diff --git a/Changes.md b/Changes.md index c7d83dff59..91bfdf2d37 100644 --- a/Changes.md +++ b/Changes.md @@ -1,3 +1,39 @@ +## 2018-09-04 release + +### New classes + + * [osteogenic neoplasm](http://purl.obolibrary.org/obo/MONDO_0045053) + * [cancer-related condition](http://purl.obolibrary.org/obo/MONDO_0045054) + * [cortical cataract](http://purl.obolibrary.org/obo/MONDO_0045051) + * [benign osteogenic neoplasm](http://purl.obolibrary.org/obo/MONDO_0045052) + * [nuclear cataract](http://purl.obolibrary.org/obo/MONDO_0045050) + * [cribriform carcinoma of breast](http://purl.obolibrary.org/obo/MONDO_0045059) + * [delirium](http://purl.obolibrary.org/obo/MONDO_0045057) + * [ACTH-producing pituitary gland neoplasm](http://purl.obolibrary.org/obo/MONDO_0045058) + * [glycogen-rich carcinoma](http://purl.obolibrary.org/obo/MONDO_0045055) + * [grade II meningioma](http://purl.obolibrary.org/obo/MONDO_0045056) + * [intraductal cribriform breast adenocarcinoma](http://purl.obolibrary.org/obo/MONDO_0045060) + * [infectious diarrheal disease](http://purl.obolibrary.org/obo/MONDO_0045031) + * [congenital secretory diarrhea](http://purl.obolibrary.org/obo/MONDO_0045032) + * [non-infectious diarrheal disease](http://purl.obolibrary.org/obo/MONDO_0045030) + * [systemic basidiobolomycosis](http://purl.obolibrary.org/obo/MONDO_0045039) + * [hyalohyphomycosis](http://purl.obolibrary.org/obo/MONDO_0045037) + * [cutaneous basidiobolomycosis](http://purl.obolibrary.org/obo/MONDO_0045038) + * [opportunistic infectious](http://purl.obolibrary.org/obo/MONDO_0045035) + * [primary infectious](http://purl.obolibrary.org/obo/MONDO_0045036) + * [opportunistic systemic mycosis](http://purl.obolibrary.org/obo/MONDO_0045033) + * [infectious disease characteristic](http://purl.obolibrary.org/obo/MONDO_0045034) + * [localized](http://purl.obolibrary.org/obo/MONDO_0045042) + * [disease of uterine broad ligament](http://purl.obolibrary.org/obo/MONDO_0045043) + * [locational disease characteristic](http://purl.obolibrary.org/obo/MONDO_0045040) + * [toxemia of pregnancy](http://purl.obolibrary.org/obo/MONDO_0045048) + * [hypermature cataract](http://purl.obolibrary.org/obo/MONDO_0045049) + * [inherited thyroid metabolism disease](http://purl.obolibrary.org/obo/MONDO_0045046) + * [neurosarcoidosis](http://purl.obolibrary.org/obo/MONDO_0045047) + * [ligament disease](http://purl.obolibrary.org/obo/MONDO_0045044) + * [selective IgG immunodeficiency](http://purl.obolibrary.org/obo/MONDO_0045045) + * [obsolete Deuteromycetes infectious disease](http://purl.obolibrary.org/obo/MONDO_0045029) + ## 2018-08-24 release ### New classes diff --git a/imports/cl_import.obo b/imports/cl_import.obo index 4de5cfd85f..c77a0ba17b 100644 --- a/imports/cl_import.obo +++ b/imports/cl_import.obo @@ -461,6 +461,20 @@ relationship: RO:0002215 GO:0097186 relationship: RO:0002220 UBERON:0001763 relationship: RO:0003000 UBERON:0001752 +[Term] +id: CL:0000062 +name: osteoblast +namespace: cell +def: "Skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell." [GO_REF:0000034, MESH:A11.329.629] +comment: non-encoded relationships from VSAO - capable_of_producing VSAO:0000020 +xref: BTO:0001593 +xref: CALOHA:TS-0720 +xref: FMA:66780 +is_a: CL:0000055 ! non-terminally differentiated cell +is_a: CL:0002320 ! connective tissue cell +relationship: RO:0002202 CL:0007010 ! preosteoblast +relationship: RO:0003000 UBERON:0008883 + [Term] id: CL:0000064 name: ciliated cell @@ -6166,6 +6180,19 @@ is_a: CL:0000055 ! non-terminally differentiated cell created_by: haendel creation_date: 2012-06-27T10:44:01Z +[Term] +id: CL:0007010 +name: preosteoblast +namespace: cell +def: "Skeletogenic cell that has the potential to transform into an osteoblast, and develops from neural crest or mesodermal cells." [GO_REF:0000034] +synonym: "osteoprogenitor cell" EXACT [] +is_a: CL:0000055 ! non-terminally differentiated cell +relationship: BFO:0000050 UBERON:0008883 +relationship: RO:0002202 CL:0000222 ! mesodermal cell +relationship: RO:0002202 CL:0000333 ! migratory neural crest cell +created_by: haendel +creation_date: 2012-06-27T10:57:21Z + [Term] id: CL:0008000 name: non-striated muscle cell diff --git a/imports/cl_import.owl b/imports/cl_import.owl index b7a7c8c453..2e0e48682d 100644 --- a/imports/cl_import.owl +++ b/imports/cl_import.owl @@ -1559,6 +1559,41 @@ + + + + + + + + + + + + + + + + + + Skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell. + BTO:0001593 + CALOHA:TS-0720 + FMA:66780 + cell + non-encoded relationships from VSAO - capable_of_producing VSAO:0000020 + osteoblast + + + + + Skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell. + GO_REF:0000034 + MESH:A11.329.629 + + + + @@ -19257,6 +19292,44 @@ + + + + + + + + + + + + + + + + + + + + + + + Skeletogenic cell that has the potential to transform into an osteoblast, and develops from neural crest or mesodermal cells. + haendel + 2012-06-27T10:57:21Z + osteoprogenitor cell + cell + preosteoblast + + + + + Skeletogenic cell that has the potential to transform into an osteoblast, and develops from neural crest or mesodermal cells. + GO_REF:0000034 + + + + @@ -21731,6 +21804,12 @@ + + + + + + diff --git a/imports/equivalencies.obo b/imports/equivalencies.obo index 5deace4be9..3c7b71de96 100644 --- a/imports/equivalencies.obo +++ b/imports/equivalencies.obo @@ -2286,10 +2286,6 @@ equivalent_to: MONDO:0009835 id: COHD:373432 equivalent_to: MONDO:0000648 -[Term] -id: COHD:373461 -equivalent_to: MONDO:0001362 - [Term] id: COHD:373472 equivalent_to: MONDO:0007639 @@ -2784,7 +2780,7 @@ equivalent_to: MONDO:0018975 [Term] id: COHD:377270 -equivalent_to: MONDO:0004589 +equivalent_to: MONDO:0019118 [Term] id: COHD:377271 @@ -2842,10 +2838,6 @@ equivalent_to: MONDO:0001037 id: COHD:377566 equivalent_to: MONDO:0001527 -[Term] -id: COHD:377568 -equivalent_to: MONDO:0001872 - [Term] id: COHD:377570 equivalent_to: MONDO:0001688 @@ -3346,10 +3338,6 @@ equivalent_to: MONDO:0009691 id: COHD:4041104 equivalent_to: MONDO:0004612 -[Term] -id: COHD:4041797 -equivalent_to: MONDO:0004632 - [Term] id: COHD:4041798 equivalent_to: MONDO:0004620 @@ -4788,7 +4776,7 @@ equivalent_to: MONDO:0001216 [Term] id: COHD:435903 -equivalent_to: MONDO:0001359 +equivalent_to: MONDO:0016086 [Term] id: COHD:435937 @@ -7330,10 +7318,6 @@ equivalent_to: MONDO:0000257 id: DOID:0050141 equivalent_to: MONDO:0015805 -[Term] -id: DOID:0050143 -equivalent_to: MONDO:0000259 - [Term] id: DOID:0050144 equivalent_to: MONDO:0016575 @@ -8648,7 +8632,7 @@ equivalent_to: MONDO:0010162 [Term] id: DOID:0050728 -equivalent_to: MONDO:0000422 +equivalent_to: MONDO:0002412 [Term] id: DOID:0050729 @@ -22560,7 +22544,7 @@ equivalent_to: MONDO:0001358 [Term] id: DOID:11760 -equivalent_to: MONDO:0001359 +equivalent_to: MONDO:0016086 [Term] id: DOID:11766 @@ -22570,10 +22554,6 @@ equivalent_to: MONDO:0001360 id: DOID:11771 equivalent_to: MONDO:0001361 -[Term] -id: DOID:11772 -equivalent_to: MONDO:0001362 - [Term] id: DOID:11776 equivalent_to: MONDO:0001363 @@ -24096,7 +24076,7 @@ equivalent_to: MONDO:0008262 [Term] id: DOID:12965 -equivalent_to: MONDO:0001605 +equivalent_to: MONDO:0003730 [Term] id: DOID:12969 @@ -25658,10 +25638,6 @@ equivalent_to: MONDO:0005625 id: DOID:1407 equivalent_to: MONDO:0006651 -[Term] -id: DOID:14070 -equivalent_to: MONDO:0001872 - [Term] id: DOID:14075 equivalent_to: MONDO:0001873 @@ -26876,7 +26852,7 @@ equivalent_to: MONDO:0002058 [Term] id: DOID:1626 -equivalent_to: MONDO:0002059 +equivalent_to: MONDO:0021097 [Term] id: DOID:1627 @@ -27406,10 +27382,6 @@ equivalent_to: MONDO:0010298 id: DOID:192 equivalent_to: MONDO:0006055 -[Term] -id: DOID:1920 -equivalent_to: MONDO:0002144 - [Term] id: DOID:1921 equivalent_to: MONDO:0006823 @@ -30992,7 +30964,7 @@ equivalent_to: MONDO:0010789 [Term] id: DOID:3688 -equivalent_to: MONDO:0002733 +equivalent_to: MONDO:0024432 [Term] id: DOID:3689 @@ -31220,7 +31192,7 @@ equivalent_to: MONDO:0002772 [Term] id: DOID:3773 -equivalent_to: MONDO:0002773 +equivalent_to: MONDO:0016706 [Term] id: DOID:3774 @@ -31508,7 +31480,7 @@ equivalent_to: MONDO:0002813 [Term] id: DOID:3946 -equivalent_to: MONDO:0006910 +equivalent_to: MONDO:0020528 [Term] id: DOID:3947 @@ -35484,7 +35456,7 @@ equivalent_to: MONDO:0005575 [Term] id: DOID:5675 -equivalent_to: MONDO:0006176 +equivalent_to: MONDO:0045059 [Term] id: DOID:5677 @@ -35908,7 +35880,7 @@ equivalent_to: MONDO:0003666 [Term] id: DOID:5834 -equivalent_to: MONDO:0003667 +equivalent_to: MONDO:0020513 [Term] id: DOID:5838 @@ -36604,7 +36576,7 @@ equivalent_to: MONDO:0003827 [Term] id: DOID:6255 -equivalent_to: MONDO:0007052 +equivalent_to: MONDO:0006238 [Term] id: DOID:6256 @@ -39720,7 +39692,7 @@ equivalent_to: MONDO:0006620 [Term] id: DOID:8256 -equivalent_to: MONDO:0004515 +equivalent_to: MONDO:0002722 [Term] id: DOID:8259 @@ -40080,7 +40052,7 @@ equivalent_to: MONDO:0005275 [Term] id: DOID:8500 -equivalent_to: MONDO:0004589 +equivalent_to: MONDO:0019118 [Term] id: DOID:8501 @@ -40366,10 +40338,6 @@ equivalent_to: MONDO:0004631 id: DOID:865 equivalent_to: MONDO:0018882 -[Term] -id: DOID:8651 -equivalent_to: MONDO:0004632 - [Term] id: DOID:8654 equivalent_to: MONDO:0004633 @@ -42116,11 +42084,11 @@ equivalent_to: MONDO:0004914 [Term] id: DOID:9893 -equivalent_to: MONDO:0004915 +equivalent_to: MONDO:0005076 [Term] id: DOID:9898 -equivalent_to: MONDO:0004916 +equivalent_to: MONDO:0006906 [Term] id: DOID:990 @@ -54656,7 +54624,7 @@ equivalent_to: MONDO:0007987 [Term] id: GARD:0006842 -equivalent_to: MONDO:0001359 +equivalent_to: MONDO:0016086 [Term] id: GARD:0006843 @@ -61640,7 +61608,7 @@ equivalent_to: MONDO:0016707 [Term] id: GARD:0010636 -equivalent_to: MONDO:0002773 +equivalent_to: MONDO:0016706 [Term] id: GARD:0010637 @@ -65618,6 +65586,10 @@ equivalent_to: MONDO:0004685 id: ICD10:C15.C26 equivalent_to: MONDO:0002516 +[Term] +id: ICD10:C16 +equivalent_to: MONDO:0001056 + [Term] id: ICD10:C19 equivalent_to: MONDO:0002425 @@ -66188,7 +66160,7 @@ equivalent_to: MONDO:0018912 [Term] id: ICD10:E24.0 -equivalent_to: MONDO:0006910 +equivalent_to: MONDO:0020528 [Term] id: ICD10:E26 @@ -67100,7 +67072,7 @@ equivalent_to: MONDO:0001451 [Term] id: ICD10:H35.5 -equivalent_to: MONDO:0004589 +equivalent_to: MONDO:0019118 [Term] id: ICD10:H35.51 @@ -67804,7 +67776,7 @@ equivalent_to: MONDO:0005593 [Term] id: ICD10:K05.4 -equivalent_to: MONDO:0004915 +equivalent_to: MONDO:0005076 [Term] id: ICD10:K06.0 @@ -68866,6 +68838,10 @@ equivalent_to: MONDO:0018326 id: ICD10:Q00.2 equivalent_to: MONDO:0018968 +[Term] +id: ICD10:Q00.Q99 +equivalent_to: MONDO:0000839 + [Term] id: ICD10:Q01.0 equivalent_to: MONDO:0016020 @@ -72558,10 +72534,6 @@ equivalent_to: MONDO:0001360 id: ICD9:360.42 equivalent_to: MONDO:0001363 -[Term] -id: ICD9:360.44 -equivalent_to: MONDO:0001362 - [Term] id: ICD9:360.81 equivalent_to: MONDO:0001523 @@ -72704,7 +72676,7 @@ equivalent_to: MONDO:0001457 [Term] id: ICD9:362.70 -equivalent_to: MONDO:0004589 +equivalent_to: MONDO:0019118 [Term] id: ICD9:362.73 @@ -73011,7 +72983,7 @@ id: ICD9:368.03 equivalent_to: MONDO:0001021 [Term] -id: ICD9:368.32 +id: ICD9:368.30 equivalent_to: MONDO:0001564 [Term] @@ -73882,10 +73854,6 @@ equivalent_to: MONDO:0005712 id: ICD9:379.53 equivalent_to: MONDO:0001361 -[Term] -id: ICD9:379.54 -equivalent_to: MONDO:0001872 - [Term] id: ICD9:379.55 equivalent_to: MONDO:0001655 @@ -76224,7 +76192,7 @@ equivalent_to: MONDO:0008410 [Term] id: ICD9:732.5 -equivalent_to: MONDO:0001359 +equivalent_to: MONDO:0016086 [Term] id: ICD9:732.7 @@ -97752,7 +97720,7 @@ equivalent_to: MONDO:0006873 [Term] id: MESH:D003693 -equivalent_to: MONDO:0004629 +equivalent_to: MONDO:0045057 [Term] id: MESH:D003699 @@ -98872,7 +98840,7 @@ equivalent_to: MONDO:0019959 [Term] id: MESH:D005953 -equivalent_to: MONDO:0018220 +equivalent_to: MONDO:0002413 [Term] id: MESH:D005955 @@ -106566,10 +106534,6 @@ equivalent_to: MONDO:0006010 id: MESH:D031954 equivalent_to: MONDO:0006871 -[Term] -id: MESH:D033461 -equivalent_to: MONDO:0002144 - [Term] id: MESH:D034062 equivalent_to: MONDO:0010808 @@ -106832,7 +106796,7 @@ equivalent_to: MONDO:0001383 [Term] id: MESH:D047748 -equivalent_to: MONDO:0006910 +equivalent_to: MONDO:0020528 [Term] id: MESH:D047808 @@ -108273,6 +108237,7 @@ equivalent_to: OMIMPS:615895 [Term] id: MONDO:0000193 equivalent_to: OMIMPS:604931 +equivalent_to: Orphanet:168588 equivalent_to: SCTID:124138004 [Term] @@ -108443,10 +108408,22 @@ equivalent_to: SCTID:230187000 id: MONDO:0000293 equivalent_to: SCTID:24360007 +[Term] +id: MONDO:0000294 +equivalent_to: SCTID:85750001 + +[Term] +id: MONDO:0000295 +equivalent_to: SCTID:105713003 + [Term] id: MONDO:0000297 equivalent_to: NCIT:C128397 +[Term] +id: MONDO:0000298 +equivalent_to: SCTID:40410004 + [Term] id: MONDO:0000299 equivalent_to: SCTID:46477004 @@ -108463,6 +108440,10 @@ equivalent_to: SCTID:4921002 id: MONDO:0000303 equivalent_to: SCTID:240783007 +[Term] +id: MONDO:0000304 +equivalent_to: SCTID:713315007 + [Term] id: MONDO:0000306 equivalent_to: SCTID:240761008 @@ -108840,7 +108821,7 @@ equivalent_to: SCTID:123596001 [Term] id: MONDO:0000471 equivalent_to: NCIT:C78649 -equivalent_to: SCTID:49699002 +equivalent_to: SCTID:20721001 [Term] id: MONDO:0000473 @@ -109416,6 +109397,11 @@ id: MONDO:0000831 equivalent_to: NCIT:C26891 equivalent_to: SCTID:439127006 +[Term] +id: MONDO:0000839 +equivalent_to: NCIT:C2849 +equivalent_to: SCTID:276654001 + [Term] id: MONDO:0000840 equivalent_to: SCTID:431591000124102 @@ -111166,6 +111152,11 @@ equivalent_to: SCTID:4510004 id: MONDO:0001317 equivalent_to: SCTID:67895005 +[Term] +id: MONDO:0001318 +equivalent_to: SCTID:150541000119104 +equivalent_to: SCTID:386211005 + [Term] id: MONDO:0001319 equivalent_to: SCTID:188241004 @@ -111306,10 +111297,6 @@ equivalent_to: EFO:1002018 equivalent_to: NCIT:C34439 equivalent_to: SCTID:41427001 -[Term] -id: MONDO:0001359 -equivalent_to: SCTID:203392007 - [Term] id: MONDO:0001360 equivalent_to: SCTID:23360000 @@ -111318,10 +111305,6 @@ equivalent_to: SCTID:23360000 id: MONDO:0001361 equivalent_to: SCTID:45339001 -[Term] -id: MONDO:0001362 -equivalent_to: SCTID:1361009 - [Term] id: MONDO:0001363 equivalent_to: SCTID:264008 @@ -111741,6 +111724,10 @@ equivalent_to: SCTID:416069001 id: MONDO:0001467 equivalent_to: SCTID:42812006 +[Term] +id: MONDO:0001468 +equivalent_to: SCTID:240171001 + [Term] id: MONDO:0001469 equivalent_to: SCTID:54051005 @@ -112117,7 +112104,7 @@ equivalent_to: SCTID:77949003 [Term] id: MONDO:0001564 equivalent_to: NCIT:C34422 -equivalent_to: SCTID:8826001 +equivalent_to: SCTID:83275001 [Term] id: MONDO:0001565 @@ -112504,6 +112491,10 @@ equivalent_to: SCTID:73363000 id: MONDO:0001667 equivalent_to: SCTID:721738002 +[Term] +id: MONDO:0001668 +equivalent_to: SCTID:52994003 + [Term] id: MONDO:0001670 equivalent_to: SCTID:70931000 @@ -112926,7 +112917,7 @@ equivalent_to: NCIT:C27250 [Term] id: MONDO:0001782 -equivalent_to: SCTID:193590000 +equivalent_to: SCTID:849000 [Term] id: MONDO:0001783 @@ -113181,7 +113172,7 @@ equivalent_to: SCTID:193589009 [Term] id: MONDO:0001848 -equivalent_to: SCTID:267626000 +equivalent_to: SCTID:264443002 [Term] id: MONDO:0001849 @@ -113272,10 +113263,6 @@ id: MONDO:0001871 equivalent_to: NCIT:C35587 equivalent_to: SCTID:197585004 -[Term] -id: MONDO:0001872 -equivalent_to: SCTID:46888001 - [Term] id: MONDO:0001873 equivalent_to: SCTID:72839009 @@ -113917,6 +113904,10 @@ id: MONDO:0002050 equivalent_to: NCIT:C2982 equivalent_to: SCTID:35489007 +[Term] +id: MONDO:0002051 +equivalent_to: SCTID:128598002 + [Term] id: MONDO:0002052 equivalent_to: NCIT:C26821 @@ -113941,10 +113932,6 @@ equivalent_to: NCIT:C40399 id: MONDO:0002058 equivalent_to: NCIT:C40382 -[Term] -id: MONDO:0002059 -equivalent_to: SCTID:254848002 - [Term] id: MONDO:0002060 equivalent_to: NCIT:C3785 @@ -114225,10 +114212,6 @@ equivalent_to: EFO:0007333 id: MONDO:0002133 equivalent_to: SCTID:78069008 -[Term] -id: MONDO:0002134 -equivalent_to: NCIT:C3347 - [Term] id: MONDO:0002135 equivalent_to: NCIT:C79698 @@ -114270,11 +114253,6 @@ id: MONDO:0002143 equivalent_to: NCIT:C6379 equivalent_to: ONCOTREE:VYST -[Term] -id: MONDO:0002144 -equivalent_to: EFO:0009104 -equivalent_to: SCTID:35885006 - [Term] id: MONDO:0002145 equivalent_to: NCIT:C103186 @@ -115313,6 +115291,7 @@ equivalent_to: SCTID:29633007 [Term] id: MONDO:0002413 equivalent_to: NCIT:C84733 +equivalent_to: Orphanet:364 equivalent_to: SCTID:7265005 [Term] @@ -115935,7 +115914,7 @@ equivalent_to: SCTID:119422004 [Term] id: MONDO:0002585 -equivalent_to: NCIT:C5204 +equivalent_to: NCIT:C6940 [Term] id: MONDO:0002586 @@ -116480,10 +116459,6 @@ equivalent_to: SCTID:429033009 id: MONDO:0002732 equivalent_to: NCIT:C4454 -[Term] -id: MONDO:0002733 -equivalent_to: NCIT:C27744 - [Term] id: MONDO:0002734 equivalent_to: NCIT:C5606 @@ -116643,11 +116618,6 @@ equivalent_to: SCTID:51615001 id: MONDO:0002772 equivalent_to: NCIT:C5273 -[Term] -id: MONDO:0002773 -equivalent_to: NCIT:C5592 -equivalent_to: ONCOTREE:CHGL - [Term] id: MONDO:0002776 equivalent_to: NCIT:C26972 @@ -117084,6 +117054,7 @@ equivalent_to: SCTID:281560004 [Term] id: MONDO:0002903 equivalent_to: NCIT:C92564 +equivalent_to: SCTID:386701004 [Term] id: MONDO:0002907 @@ -118874,7 +118845,7 @@ equivalent_to: ONCOTREE:EMYOCA [Term] id: MONDO:0003390 -equivalent_to: NCIT:C4153 +equivalent_to: NCIT:C40368 [Term] id: MONDO:0003391 @@ -123411,11 +123382,6 @@ id: MONDO:0004588 equivalent_to: NCIT:C34850 equivalent_to: SCTID:65194006 -[Term] -id: MONDO:0004589 -equivalent_to: NCIT:C35194 -equivalent_to: SCTID:41799005 - [Term] id: MONDO:0004591 equivalent_to: EFO:1000715 @@ -123585,7 +123551,6 @@ equivalent_to: SCTID:363360003 [Term] id: MONDO:0004632 equivalent_to: NCIT:C6914 -equivalent_to: SCTID:118602004 [Term] id: MONDO:0004633 @@ -125995,6 +125960,7 @@ equivalent_to: SCTID:443250000 id: MONDO:0005165 equivalent_to: EFO:0002422 equivalent_to: NCIT:C3677 +equivalent_to: SCTID:20376005 [Term] id: MONDO:0005166 @@ -126794,10 +126760,6 @@ equivalent_to: EFO:0003966 equivalent_to: NCIT:C26767 equivalent_to: SCTID:371405004 -[Term] -id: MONDO:0005332 -equivalent_to: EFO:0004125 - [Term] id: MONDO:0005333 equivalent_to: EFO:0004127 @@ -131095,8 +131057,10 @@ equivalent_to: NCIT:C35815 [Term] id: MONDO:0006238 +equivalent_to: EFO:0004125 equivalent_to: EFO:1000287 equivalent_to: NCIT:C7461 +equivalent_to: Orphanet:96256 equivalent_to: SCTID:254957009 [Term] @@ -134291,11 +134255,6 @@ id: MONDO:0006909 equivalent_to: EFO:1001109 equivalent_to: SCTID:367460001 -[Term] -id: MONDO:0006910 -equivalent_to: EFO:1001110 -equivalent_to: SCTID:190502001 - [Term] id: MONDO:0006912 equivalent_to: EFO:1001113 @@ -141799,7 +141758,6 @@ equivalent_to: OMIM:180950 [Term] id: MONDO:0008399 equivalent_to: OMIM:181000 -equivalent_to: SCTID:31541009 [Term] id: MONDO:0008400 @@ -156538,10 +156496,6 @@ equivalent_to: SCTID:718559000 id: MONDO:0011276 equivalent_to: OMIM:602966 -[Term] -id: MONDO:0011277 -equivalent_to: OMIM:602994 - [Term] id: MONDO:0011278 equivalent_to: OMIM:603003 @@ -176376,10 +176330,6 @@ id: MONDO:0015675 equivalent_to: Orphanet:1685 equivalent_to: SCTID:26089000 -[Term] -id: MONDO:0015676 -equivalent_to: Orphanet:168588 - [Term] id: MONDO:0015677 equivalent_to: Orphanet:1686 @@ -177512,6 +177462,7 @@ equivalent_to: Orphanet:182214 id: MONDO:0015938 equivalent_to: NCIT:C9229 equivalent_to: Orphanet:182222 +equivalent_to: SCTID:281867008 [Term] id: MONDO:0015939 @@ -178192,6 +178143,7 @@ equivalent_to: Orphanet:2050 [Term] id: MONDO:0016086 equivalent_to: Orphanet:2054 +equivalent_to: SCTID:203392007 [Term] id: MONDO:0016087 @@ -180926,6 +180878,8 @@ equivalent_to: Orphanet:251671 [Term] id: MONDO:0016706 +equivalent_to: NCIT:C5592 +equivalent_to: ONCOTREE:CHGL equivalent_to: Orphanet:251674 equivalent_to: SCTID:715900001 @@ -187503,10 +187457,6 @@ equivalent_to: Orphanet:363965 id: MONDO:0018218 equivalent_to: Orphanet:363969 -[Term] -id: MONDO:0018220 -equivalent_to: Orphanet:364 - [Term] id: MONDO:0018221 equivalent_to: NCIT:C111904 @@ -191482,9 +191432,11 @@ equivalent_to: Orphanet:71859 [Term] id: MONDO:0019118 +equivalent_to: NCIT:C35194 equivalent_to: NCIT:C35625 equivalent_to: Orphanet:71862 equivalent_to: SCTID:314407005 +equivalent_to: SCTID:41799005 [Term] id: MONDO:0019119 @@ -192518,6 +192470,7 @@ equivalent_to: SCTID:7231009 id: MONDO:0019338 equivalent_to: NCIT:C34995 equivalent_to: Orphanet:797 +equivalent_to: SCTID:31541009 [Term] id: MONDO:0019339 @@ -195219,7 +195172,6 @@ equivalent_to: Orphanet:96201 [Term] id: MONDO:0019927 equivalent_to: NCIT:C7911 -equivalent_to: Orphanet:96256 [Term] id: MONDO:0019928 @@ -197778,7 +197730,9 @@ equivalent_to: Orphanet:99889 [Term] id: MONDO:0020528 +equivalent_to: EFO:1001110 equivalent_to: Orphanet:99892 +equivalent_to: SCTID:190502001 equivalent_to: SCTID:237734007 [Term] @@ -198361,6 +198315,7 @@ equivalent_to: NCIT:C8429 id: MONDO:0021097 equivalent_to: EFO:1000306 equivalent_to: NCIT:C3863 +equivalent_to: SCTID:254848002 equivalent_to: SCTID:99571000119102 [Term] @@ -200100,10 +200055,6 @@ equivalent_to: NCIT:C3365 equivalent_to: Orphanet:120579 equivalent_to: SCTID:8098009 -[Term] -id: MONDO:0021698 -equivalent_to: SCTID:29212009 - [Term] id: MONDO:0021699 equivalent_to: SCTID:719848005 @@ -200617,6 +200568,7 @@ equivalent_to: SCTID:403936002 [Term] id: MONDO:0024247 equivalent_to: NCIT:C6797 +equivalent_to: SCTID:254715009 [Term] id: MONDO:0024248 @@ -201041,6 +200993,7 @@ equivalent_to: SCTID:80006005 [Term] id: MONDO:0024432 +equivalent_to: NCIT:C27744 equivalent_to: SCTID:2231001 [Term] @@ -204657,10 +204610,6 @@ equivalent_to: SCTID:430886005 id: MONDO:0045003 equivalent_to: SCTID:49701002 -[Term] -id: MONDO:0045004 -equivalent_to: SCTID:60492000 - [Term] id: MONDO:0045008 equivalent_to: SCTID:123963007 @@ -204718,8 +204667,96 @@ id: MONDO:0045023 equivalent_to: SCTID:190512008 [Term] -id: MONDO:0045027 -equivalent_to: SCTID:128598002 +id: MONDO:0045030 +equivalent_to: SCTID:69980003 + +[Term] +id: MONDO:0045031 +equivalent_to: SCTID:19213003 + +[Term] +id: MONDO:0045032 +equivalent_to: SCTID:25898005 + +[Term] +id: MONDO:0045037 +equivalent_to: SCTID:240773008 + +[Term] +id: MONDO:0045038 +equivalent_to: SCTID:240786004 + +[Term] +id: MONDO:0045039 +equivalent_to: SCTID:240787008 + +[Term] +id: MONDO:0045043 +equivalent_to: SCTID:237062006 + +[Term] +id: MONDO:0045044 +equivalent_to: SCTID:60492000 + +[Term] +id: MONDO:0045045 +equivalent_to: NCIT:C27142 + +[Term] +id: MONDO:0045046 +equivalent_to: SCTID:36985004 + +[Term] +id: MONDO:0045047 +equivalent_to: SCTID:230193008 + +[Term] +id: MONDO:0045048 +equivalent_to: NCIT:C34943 + +[Term] +id: MONDO:0045049 +equivalent_to: SCTID:267626000 + +[Term] +id: MONDO:0045050 +equivalent_to: SCTID:53889007 + +[Term] +id: MONDO:0045051 +equivalent_to: SCTID:193576003 + +[Term] +id: MONDO:0045052 +equivalent_to: NCIT:C6602 + +[Term] +id: MONDO:0045053 +equivalent_to: NCIT:C6603 + +[Term] +id: MONDO:0045054 +equivalent_to: NCIT:C8278 + +[Term] +id: MONDO:0045055 +equivalent_to: NCIT:C4153 + +[Term] +id: MONDO:0045056 +equivalent_to: NCIT:C38937 + +[Term] +id: MONDO:0045057 +equivalent_to: SCTID:2776000 + +[Term] +id: MONDO:0045058 +equivalent_to: NCIT:C7909 + +[Term] +id: MONDO:0045060 +equivalent_to: NCIT:C5138 [Term] id: MONDO:0100010 @@ -213105,10 +213142,6 @@ equivalent_to: MONDO:0001250 id: http://linkedlifedata.com/resource/umls/id/C0152456 equivalent_to: MONDO:0000987 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0152458 -equivalent_to: MONDO:0001362 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0152460 equivalent_to: MONDO:0001725 @@ -214199,7 +214232,7 @@ equivalent_to: MONDO:0001457 [Term] id: http://linkedlifedata.com/resource/umls/id/C0154860 -equivalent_to: MONDO:0004589 +equivalent_to: MONDO:0019118 [Term] id: http://linkedlifedata.com/resource/umls/id/C0154863 @@ -214825,10 +214858,6 @@ equivalent_to: MONDO:0001906 id: http://linkedlifedata.com/resource/umls/id/C0155375 equivalent_to: MONDO:0001986 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0155379 -equivalent_to: MONDO:0001872 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0155380 equivalent_to: MONDO:0001655 @@ -215515,7 +215544,7 @@ equivalent_to: MONDO:0004881 [Term] id: http://linkedlifedata.com/resource/umls/id/C0158444 -equivalent_to: MONDO:0001359 +equivalent_to: MONDO:0016086 [Term] id: http://linkedlifedata.com/resource/umls/id/C0158617 @@ -225003,7 +225032,7 @@ equivalent_to: MONDO:0002267 [Term] id: http://linkedlifedata.com/resource/umls/id/C0600298 -equivalent_to: MONDO:0004915 +equivalent_to: MONDO:0005076 [Term] id: http://linkedlifedata.com/resource/umls/id/C0600327 @@ -225393,10 +225422,6 @@ equivalent_to: MONDO:0004699 id: http://linkedlifedata.com/resource/umls/id/C0740392 equivalent_to: MONDO:0006857 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C0740394 -equivalent_to: MONDO:0002144 - [Term] id: http://linkedlifedata.com/resource/umls/id/C0740441 equivalent_to: MONDO:0000257 @@ -231627,7 +231652,7 @@ equivalent_to: MONDO:0003926 [Term] id: http://linkedlifedata.com/resource/umls/id/C1335437 -equivalent_to: MONDO:0002733 +equivalent_to: MONDO:0024432 [Term] id: http://linkedlifedata.com/resource/umls/id/C1335448 @@ -231653,10 +231678,6 @@ equivalent_to: MONDO:0004429 id: http://linkedlifedata.com/resource/umls/id/C1335483 equivalent_to: MONDO:0006223 -[Term] -id: http://linkedlifedata.com/resource/umls/id/C1335500 -equivalent_to: MONDO:0002585 - [Term] id: http://linkedlifedata.com/resource/umls/id/C1335502 equivalent_to: MONDO:0003177 @@ -260943,7 +260964,7 @@ equivalent_to: MONDO:0015665 [Term] id: http://linkedlifedata.com/resource/umls/id/CN200166 -equivalent_to: MONDO:0015676 +equivalent_to: MONDO:0000193 [Term] id: http://linkedlifedata.com/resource/umls/id/CN200175 diff --git a/imports/equivalencies.owl b/imports/equivalencies.owl index 7fdaadd46b..b74dc33f81 100644 --- a/imports/equivalencies.owl +++ b/imports/equivalencies.owl @@ -16784,14 +16784,6 @@ - - - - - - - - @@ -18971,7 +18963,7 @@ - + @@ -20224,14 +20216,6 @@ - - - - - - - - @@ -21603,7 +21587,7 @@ - + @@ -40579,7 +40563,7 @@ - + @@ -41360,14 +41344,6 @@ - - - - - - - - @@ -53827,7 +53803,7 @@ - + @@ -53880,14 +53856,6 @@ - - - - - - - - @@ -112459,7 +112427,7 @@ - + @@ -133088,14 +133056,6 @@ - - - - - - - - @@ -134083,7 +134043,7 @@ - + @@ -134200,14 +134160,6 @@ - - - - - - - - @@ -135208,14 +135160,6 @@ - - - - - - - - @@ -138091,7 +138035,7 @@ - + @@ -143176,14 +143120,6 @@ - - - - - - - - @@ -145811,7 +145747,7 @@ - + @@ -173635,7 +173571,7 @@ - + @@ -173656,14 +173592,6 @@ - - - - - - - - @@ -176707,7 +176635,7 @@ - + @@ -179832,14 +179760,6 @@ - - - - - - - - @@ -182267,7 +182187,7 @@ - + @@ -183328,14 +183248,6 @@ - - - - - - - - @@ -190499,7 +190411,7 @@ - + @@ -190955,7 +190867,7 @@ - + @@ -191531,7 +191443,7 @@ - + @@ -199483,7 +199395,7 @@ - + @@ -200331,7 +200243,7 @@ - + @@ -201723,7 +201635,7 @@ - + @@ -207955,7 +207867,7 @@ - + @@ -208675,7 +208587,7 @@ - + @@ -209248,14 +209160,6 @@ - - - - - - - - @@ -212747,7 +212651,7 @@ - + @@ -212755,7 +212659,7 @@ - + @@ -237827,7 +237731,7 @@ - + @@ -251795,7 +251699,7 @@ - + @@ -259752,6 +259656,14 @@ + + + + + + + + @@ -260891,7 +260803,7 @@ - + @@ -262715,7 +262627,7 @@ - + @@ -264123,7 +264035,7 @@ - + @@ -266248,6 +266160,14 @@ + + + + + + + + @@ -273632,14 +273552,6 @@ - - - - - - - - @@ -273923,7 +273835,7 @@ - + @@ -274536,9 +274448,9 @@ - + - + @@ -276280,14 +276192,6 @@ - - - - - - - - @@ -280963,7 +280867,7 @@ - + @@ -324019,7 +323923,7 @@ - + @@ -326259,7 +326163,7 @@ - + @@ -341648,14 +341552,6 @@ - - - - - - - - @@ -342179,7 +342075,7 @@ - + @@ -345253,6 +345149,7 @@ + @@ -345573,12 +345470,6 @@ - - - - - - @@ -345717,13 +345608,17 @@ - + + + - + + + @@ -345737,7 +345632,9 @@ - + + + @@ -345775,7 +345672,9 @@ - + + + @@ -346394,12 +346293,6 @@ - - - - - - @@ -346671,7 +346564,7 @@ - + @@ -348616,7 +348509,10 @@ - + + + + @@ -352076,7 +351972,10 @@ - + + + + @@ -352372,14 +352271,6 @@ - - - - - - - - @@ -352396,14 +352287,6 @@ - - - - - - - - @@ -353241,7 +353124,9 @@ - + + + @@ -353982,7 +353867,7 @@ - + @@ -354273,12 +354158,6 @@ - - - - - - @@ -354776,7 +354655,9 @@ - + + + @@ -355641,7 +355522,7 @@ - + @@ -356144,7 +356025,7 @@ - + @@ -356328,14 +356209,6 @@ - - - - - - - - @@ -357625,7 +357498,9 @@ - + + + @@ -357673,14 +357548,6 @@ - - - - - - - - @@ -358233,9 +358100,7 @@ - - - + @@ -358318,15 +358183,6 @@ - - - - - - - - - @@ -360315,6 +360171,7 @@ + @@ -361542,7 +361399,7 @@ - + @@ -362600,14 +362457,6 @@ - - - - - - - - @@ -362913,15 +362762,6 @@ - - - - - - - - - @@ -363819,6 +363659,7 @@ + @@ -367331,7 +367172,7 @@ - + @@ -369298,12 +369139,6 @@ - - - - - - @@ -375701,12 +375536,6 @@ - - - - - - @@ -376293,15 +376122,6 @@ - - - - - - - - - @@ -376624,7 +376444,6 @@ - @@ -378768,18 +378587,6 @@ - - - - - - - - - - - - @@ -381011,6 +380818,7 @@ + @@ -382386,14 +382194,6 @@ - - - - - - - - @@ -389878,7 +389678,9 @@ + + @@ -395445,15 +395247,6 @@ - - - - - - - - - @@ -408754,7 +408547,6 @@ - @@ -434880,14 +434672,6 @@ - - - - - - - - @@ -472122,14 +471906,6 @@ - - - - - - - - @@ -474270,6 +474046,7 @@ + @@ -475518,6 +475295,7 @@ + @@ -480645,6 +480423,8 @@ + + @@ -493093,14 +492873,6 @@ - - - - - - - - @@ -500445,8 +500217,10 @@ + + @@ -502324,6 +502098,7 @@ + @@ -507286,7 +507061,6 @@ - @@ -512145,7 +511919,9 @@ + + @@ -513225,6 +513001,7 @@ + @@ -516464,9 +516241,7 @@ - - - + @@ -520144,6 +519919,7 @@ + @@ -521056,6 +520832,7 @@ + @@ -529031,14 +528808,6 @@ - - - - - - - - @@ -529151,10 +528920,192 @@ - + - - + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + @@ -536217,6 +536168,12 @@ + + + + + + @@ -537843,6 +537800,12 @@ + + + + + + @@ -540045,12 +540008,6 @@ - - - - - - @@ -542535,6 +542492,12 @@ + + + + + + @@ -546579,6 +546542,12 @@ + + + + + + @@ -548781,6 +548750,12 @@ + + + + + + @@ -553461,6 +553436,12 @@ + + + + + + @@ -553665,12 +553646,6 @@ - - - - - - @@ -558003,6 +557978,18 @@ + + + + + + + + + + + + @@ -559035,6 +559022,12 @@ + + + + + + @@ -561435,6 +561428,12 @@ + + + + + + @@ -562167,6 +562166,12 @@ + + + + + + @@ -596799,12 +596804,6 @@ - - - - - - @@ -623487,6 +623486,12 @@ + + + + + + @@ -624591,12 +624596,6 @@ - - - - - - @@ -626685,12 +626684,6 @@ - - - - - - @@ -627009,6 +627002,12 @@ + + + + + + @@ -628947,6 +628946,12 @@ + + + + + + @@ -629217,15 +629222,15 @@ - + - + - + - + @@ -630213,6 +630218,12 @@ + + + + + + @@ -630723,6 +630734,12 @@ + + + + + + @@ -631347,6 +631364,12 @@ + + + + + + @@ -633351,6 +633374,12 @@ + + + + + + @@ -634929,6 +634958,12 @@ + + + + + + @@ -635049,12 +635084,30 @@ + + + + + + + + + + + + + + + + + + @@ -636555,6 +636608,12 @@ + + + + + + @@ -637527,6 +637586,12 @@ + + + + + + @@ -637719,6 +637784,12 @@ + + + + + + @@ -638697,6 +638768,12 @@ + + + + + + @@ -639009,6 +639086,12 @@ + + + + + + @@ -639369,6 +639452,12 @@ + + + + + + @@ -639729,12 +639818,6 @@ - - - - - - @@ -641985,12 +642068,6 @@ - - - - - - @@ -643233,6 +643310,12 @@ + + + + + + @@ -644001,6 +644084,12 @@ + + + + + + @@ -644013,6 +644102,12 @@ + + + + + + @@ -646545,6 +646640,12 @@ + + + + + + @@ -650733,12 +650834,6 @@ - - - - - - @@ -651495,12 +651590,6 @@ - - - - - - @@ -652329,6 +652418,12 @@ + + + + + + @@ -652503,6 +652598,12 @@ + + + + + + @@ -656631,6 +656732,12 @@ + + + + + + @@ -658485,6 +658592,12 @@ + + + + + + @@ -667905,6 +668018,12 @@ + + + + + + @@ -668241,6 +668360,12 @@ + + + + + + @@ -668409,6 +668534,12 @@ + + + + + + @@ -668973,12 +669104,6 @@ - - - - - - @@ -679443,12 +679568,6 @@ - - - - - - diff --git a/imports/go_import.obo b/imports/go_import.obo index 4359ee7c6f..0b1440aaba 100644 --- a/imports/go_import.obo +++ b/imports/go_import.obo @@ -63,6 +63,19 @@ synonym: "sulphur amino acid metabolism" EXACT [] is_a: GO:0006520 ! cellular amino acid metabolic process is_a: GO:0006790 ! sulfur compound metabolic process +[Term] +id: GO:0000098 +name: sulfur amino acid catabolic process +def: "The chemical reactions and pathways resulting in the breakdown of amino acids containing sulfur, comprising cysteine, methionine and selenocysteine." [] +synonym: "sulfur amino acid breakdown" EXACT [] +synonym: "sulfur amino acid catabolism" EXACT [] +synonym: "sulfur amino acid degradation" EXACT [] +synonym: "sulphur amino acid catabolic process" EXACT [] +synonym: "sulphur amino acid catabolism" EXACT [] +is_a: GO:0000096 ! sulfur amino acid metabolic process +is_a: GO:0009063 ! cellular amino acid catabolic process +is_a: GO:0044273 ! sulfur compound catabolic process + [Term] id: GO:0000122 name: negative regulation of transcription by RNA polymerase II @@ -362,6 +375,22 @@ is_a: GO:0033363 ! secretory granule organization is_a: GO:0070925 ! organelle assembly relationship: BFO:0000050 GO:0007286 ! part of spermatid development +[Term] +id: GO:0001677 +name: formation of translation initiation ternary complex +def: "Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator)." [] +synonym: "translation initiation ternary complex assembly" EXACT [] +is_a: GO:0022618 ! ribonucleoprotein complex assembly +relationship: BFO:0000050 GO:0006413 ! part of translational initiation + +[Term] +id: GO:0001678 +name: cellular glucose homeostasis +def: "A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment." [] +synonym: "cell glucose homeostasis" EXACT [] +is_a: GO:0042593 ! glucose homeostasis +is_a: GO:0055082 ! cellular chemical homeostasis + [Term] id: GO:0001755 name: neural crest cell migration @@ -748,6 +777,50 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0001909 ! positively regulates leukocyte mediated cytotoxicity relationship: RO:0002213 GO:0001909 ! positively regulates leukocyte mediated cytotoxicity +[Term] +id: GO:0001932 +name: regulation of protein phosphorylation +def: "Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein." [] +synonym: "regulation of protein amino acid phosphorylation" EXACT [] +is_a: GO:0031399 ! regulation of protein modification process +is_a: GO:0042325 ! regulation of phosphorylation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006468 ! regulates protein phosphorylation +relationship: RO:0002211 GO:0006468 ! regulates protein phosphorylation + +[Term] +id: GO:0001933 +name: negative regulation of protein phosphorylation +def: "Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein." [] +synonym: "down regulation of protein amino acid phosphorylation" EXACT [] +synonym: "down-regulation of protein amino acid phosphorylation" EXACT [] +synonym: "downregulation of protein amino acid phosphorylation" EXACT [] +synonym: "inhibition of protein amino acid phosphorylation" NARROW [] +synonym: "negative regulation of protein amino acid phosphorylation" EXACT [] +is_a: GO:0001932 ! regulation of protein phosphorylation +is_a: GO:0031400 ! negative regulation of protein modification process +is_a: GO:0042326 ! negative regulation of phosphorylation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006468 ! negatively regulates protein phosphorylation +relationship: RO:0002212 GO:0006468 ! negatively regulates protein phosphorylation + +[Term] +id: GO:0001934 +name: positive regulation of protein phosphorylation +def: "Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein." [] +synonym: "activation of protein amino acid phosphorylation" NARROW [] +synonym: "positive regulation of protein amino acid phosphorylation" EXACT [] +synonym: "stimulation of protein amino acid phosphorylation" NARROW [] +synonym: "up regulation of protein amino acid phosphorylation" EXACT [] +synonym: "up-regulation of protein amino acid phosphorylation" EXACT [] +synonym: "upregulation of protein amino acid phosphorylation" EXACT [] +is_a: GO:0001932 ! regulation of protein phosphorylation +is_a: GO:0031401 ! positive regulation of protein modification process +is_a: GO:0042327 ! positive regulation of phosphorylation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006468 ! positively regulates protein phosphorylation +relationship: RO:0002213 GO:0006468 ! positively regulates protein phosphorylation + [Term] id: GO:0001944 name: vasculature development @@ -861,6 +934,40 @@ is_a: GO:0009653 ! anatomical structure morphogenesis relationship: BFO:0000050 GO:0002088 ! part of lens development in camera-type eye relationship: BFO:0000050 GO:0048593 ! part of camera-type eye morphogenesis +[Term] +id: GO:0002181 +name: cytoplasmic translation +def: "The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein." [] +is_a: GO:0006412 ! translation + +[Term] +id: GO:0002182 +name: cytoplasmic translational elongation +def: "The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in the cytoplasm." [] +is_a: GO:0006414 ! translational elongation +intersection_of: GO:0006414 ! translational elongation +intersection_of: BFO:0000050 GO:0002181 ! part of cytoplasmic translation +relationship: BFO:0000050 GO:0002181 ! part of cytoplasmic translation + +[Term] +id: GO:0002183 +name: cytoplasmic translational initiation +def: "The process preceding formation of the peptide bond between the first two amino acids of a protein in the cytoplasm. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA." [] +is_a: GO:0006413 ! translational initiation +intersection_of: GO:0006413 ! translational initiation +intersection_of: BFO:0000050 GO:0002181 ! part of cytoplasmic translation +relationship: BFO:0000050 GO:0002181 ! part of cytoplasmic translation + +[Term] +id: GO:0002184 +name: cytoplasmic translational termination +def: "The process resulting in the release of a polypeptide chain from the ribosome in the cytoplasm, usually in response to a termination codon." [] +is_a: GO:0006415 ! translational termination +intersection_of: GO:0006415 ! translational termination +intersection_of: BFO:0000066 GO:0005829 ! occurs in cytosol +relationship: BFO:0000050 GO:0002181 ! part of cytoplasmic translation +relationship: BFO:0000066 GO:0005829 ! occurs in cytosol + [Term] id: GO:0002200 name: somatic diversification of immune receptors @@ -3184,6 +3291,18 @@ synonym: "pyrroline-5-carboxylate dehydrogenase activity" EXACT [] synonym: "pyrroline-5-carboxylic acid dehydrogenase activity" EXACT [] is_a: GO:0016646 ! oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor +[Term] +id: GO:0003845 +name: 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity +def: "Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD(P)+ = an 11-oxosteroid + NAD(P)H + H(+)." [] +synonym: "11beta-hydroxy steroid dehydrogenase" EXACT [] +synonym: "11beta-hydroxysteroid dehydrogenase" EXACT [] +synonym: "beta-hydroxysteroid dehydrogenase" BROAD [] +synonym: "corticosteroid 11-reductase" RELATED [] +synonym: "corticosteroid 11beta-dehydrogenase" RELATED [] +synonym: "dehydrogenase, 11beta-hydroxy steroid" EXACT [] +is_a: GO:0033764 ! steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor + [Term] id: GO:0003867 name: 4-aminobutyrate transaminase activity @@ -3440,6 +3559,14 @@ synonym: "Zwischenferment" RELATED [] synonym: "zwischenferment" RELATED [] is_a: GO:0016616 ! oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor +[Term] +id: GO:0004346 +name: glucose-6-phosphatase activity +def: "Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate." [] +synonym: "D-glucose-6-phosphate phosphohydrolase activity" EXACT [] +synonym: "glucose 6-phosphate phosphatase activity" EXACT [] +is_a: GO:0050309 ! sugar-terminal-phosphatase activity + [Term] id: GO:0004347 name: glucose-6-phosphate isomerase activity @@ -3795,6 +3922,83 @@ synonym: "nervous-system specific enolase" NARROW [] synonym: "phosphoenolpyruvate hydratase activity" EXACT [] is_a: GO:0016836 ! hydro-lyase activity +[Term] +id: GO:0004672 +name: protein kinase activity +def: "Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP." [] +synonym: "protamine kinase activity" NARROW [] +is_a: GO:0016301 ! kinase activity +is_a: GO:0016773 ! phosphotransferase activity, alcohol group as acceptor +is_a: GO:0140096 ! catalytic activity, acting on a protein +relationship: BFO:0000050 GO:0006468 ! part of protein phosphorylation + +[Term] +id: GO:0004674 +name: protein serine/threonine kinase activity +def: "Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate." [] +synonym: "protein kinase (phosphorylating) activity" NARROW [] +synonym: "protein phosphokinase activity" NARROW [] +synonym: "protein serine kinase activity" NARROW [] +synonym: "protein serine-threonine kinase activity" EXACT [] +synonym: "protein-serine kinase activity" NARROW [] +synonym: "serine kinase activity" NARROW [] +synonym: "serine protein kinase activity" NARROW [] +synonym: "serine(threonine) protein kinase activity" EXACT [] +synonym: "serine-specific protein kinase activity" NARROW [] +synonym: "serine/threonine protein kinase activity" EXACT [] +synonym: "threonine-specific protein kinase activity" NARROW [] +is_a: GO:0004672 ! protein kinase activity + +[Term] +id: GO:0004683 +name: calmodulin-dependent protein kinase activity +def: "Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate. These reactions require the presence of calcium-bound calmodulin." [] +synonym: "ATP:caldesmon O-phosphotransferase activity" NARROW [] +synonym: "ATP:protein phosphotransferase (Ca2+/calmodulin-dependent) activity" EXACT [] +synonym: "Ca2+/calmodulin-dependent microtubule-associated protein 2 kinase activity" NARROW [] +synonym: "Ca2+/calmodulin-dependent protein kinase 1 activity" NARROW [] +synonym: "Ca2+/calmodulin-dependent protein kinase activity" EXACT [] +synonym: "Ca2+/calmodulin-dependent protein kinase II activity" NARROW [] +synonym: "Ca2+/calmodulin-dependent protein kinase IV activity" NARROW [] +synonym: "Ca2+/calmodulin-dependent protein kinase kinase activity" NARROW [] +synonym: "Ca2+/calmodulin-dependent protein kinase kinase beta activity" NARROW [] +synonym: "Ca2+/CaM-dependent kinase activity" EXACT [] +synonym: "calcium- and calmodulin-dependent protein kinase activity" EXACT [] +synonym: "calcium/calmodulin-dependent protein kinase activity" EXACT [] +synonym: "calcium/calmodulin-dependent protein kinase type II activity" NARROW [] +synonym: "caldesmon kinase (phosphorylating) activity" NARROW [] +synonym: "calmodulin regulated protein kinase activity" EXACT [] +synonym: "calmodulin-dependent kinase II activity" NARROW [] +synonym: "calmodulin-dependent protein kinase I activity" NARROW [] +synonym: "CaM kinase activity" EXACT [] +synonym: "CaM kinase II activity" NARROW [] +synonym: "CAM PKII" RELATED [] +synonym: "CaM-regulated serine/threonine kinase activity" EXACT [] +synonym: "CaMKI" RELATED [] +synonym: "CaMKII" RELATED [] +synonym: "CaMKIV" RELATED [] +synonym: "CaMKKalpha" RELATED [] +synonym: "CaMKKbeta" RELATED [] +synonym: "microtubule-associated protein 2 kinase activity" RELATED [] +synonym: "multifunctional calcium- and calmodulin-regulated protein kinase activity" RELATED [] +synonym: "multifunctional calcium/calmodulin regulated protein kinase activity" RELATED [] +synonym: "STK20" RELATED [] +is_a: GO:0004674 ! protein serine/threonine kinase activity + +[Term] +id: GO:0004689 +name: phosphorylase kinase activity +def: "Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a." [] +synonym: "ATP:phosphorylase-b phosphotransferase activity" EXACT [] +synonym: "dephosphophosphorylase kinase activity" EXACT [] +synonym: "glycogen phosphorylase kinase activity" EXACT [] +synonym: "PHK" RELATED [] +synonym: "phosphorylase B kinase activity" EXACT [] +synonym: "phosphorylase kinase (phosphorylating) activity" EXACT [] +synonym: "phosphorylase kinase, intrinsic catalyst activity" EXACT [] +synonym: "STK17" RELATED [] +is_a: GO:0004683 ! calmodulin-dependent protein kinase activity + [Term] id: GO:0004737 name: pyruvate decarboxylase activity @@ -5014,6 +5218,99 @@ def: "Any process involved in the conversion of one or more primary RNA transcri is_a: GO:0016070 ! RNA metabolic process relationship: BFO:0000050 GO:0010467 ! part of gene expression +[Term] +id: GO:0006412 +name: translation +def: "The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome." [] +synonym: "protein anabolism" EXACT [] +synonym: "protein biosynthesis" EXACT [] +synonym: "protein biosynthetic process" EXACT [] +synonym: "protein formation" EXACT [] +synonym: "protein synthesis" EXACT [] +synonym: "protein translation" EXACT [] +is_a: GO:0034645 ! cellular macromolecule biosynthetic process +is_a: GO:0043043 ! peptide biosynthetic process +is_a: GO:0044267 ! cellular protein metabolic process +relationship: BFO:0000050 GO:0010467 ! part of gene expression +relationship: BFO:0000051 GO:0006413 ! has_part translational initiation +relationship: BFO:0000051 GO:0006414 ! has_part translational elongation +relationship: BFO:0000051 GO:0006415 ! has_part translational termination + +[Term] +id: GO:0006413 +name: translational initiation +def: "The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA." [] +synonym: "biopolymerisation" BROAD [] +synonym: "biopolymerization" BROAD [] +synonym: "protein synthesis initiation" BROAD [] +synonym: "translation initiation" EXACT [] +is_a: GO:0044237 ! cellular metabolic process +relationship: BFO:0000050 GO:0006412 ! part of translation +relationship: BFO:0000051 GO:0001677 ! has_part formation of translation initiation ternary complex + +[Term] +id: GO:0006414 +name: translational elongation +def: "The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis." [] +synonym: "protein synthesis elongation" BROAD [] +synonym: "translation elongation" EXACT [] +is_a: GO:0034645 ! cellular macromolecule biosynthetic process +relationship: BFO:0000050 GO:0006412 ! part of translation + +[Term] +id: GO:0006415 +name: translational termination +def: "The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code)." [] +synonym: "protein synthesis termination" BROAD [] +synonym: "translation termination" EXACT [] +synonym: "translational complex disassembly" EXACT [] +is_a: GO:0043624 ! cellular protein complex disassembly +relationship: BFO:0000050 GO:0006412 ! part of translation + +[Term] +id: GO:0006417 +name: regulation of translation +def: "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA." [] +synonym: "regulation of protein anabolism" EXACT [] +synonym: "regulation of protein biosynthesis" EXACT [] +synonym: "regulation of protein formation" EXACT [] +synonym: "regulation of protein synthesis" EXACT [] +is_a: GO:0010608 ! posttranscriptional regulation of gene expression +is_a: GO:0032268 ! regulation of cellular protein metabolic process +is_a: GO:0034248 ! regulation of cellular amide metabolic process +is_a: GO:2000112 ! regulation of cellular macromolecule biosynthetic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006412 ! regulates translation +relationship: RO:0002211 GO:0006412 ! regulates translation + +[Term] +id: GO:0006446 +name: regulation of translational initiation +def: "Any process that modulates the frequency, rate or extent of translational initiation." [] +is_a: GO:0006417 ! regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006413 ! regulates translational initiation +relationship: RO:0002211 GO:0006413 ! regulates translational initiation + +[Term] +id: GO:0006448 +name: regulation of translational elongation +def: "Any process that modulates the frequency, rate, extent or accuracy of translational elongation." [] +is_a: GO:0006417 ! regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006414 ! regulates translational elongation +relationship: RO:0002211 GO:0006414 ! regulates translational elongation + +[Term] +id: GO:0006449 +name: regulation of translational termination +def: "Any process that modulates the frequency, rate or extent of translational termination." [] +is_a: GO:0006417 ! regulation of translation +is_a: GO:0043244 ! regulation of protein complex disassembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006415 ! regulates translational termination +relationship: RO:0002211 GO:0006415 ! regulates translational termination + [Term] id: GO:0006464 name: cellular protein modification process @@ -5024,6 +5321,29 @@ synonym: "protein tagging activity" RELATED [] is_a: GO:0036211 ! protein modification process is_a: GO:0044267 ! cellular protein metabolic process +[Term] +id: GO:0006468 +name: protein phosphorylation +def: "The process of introducing a phosphate group on to a protein." [] +synonym: "protein amino acid phosphorylation" EXACT [] +is_a: GO:0006464 ! cellular protein modification process +is_a: GO:0016310 ! phosphorylation + +[Term] +id: GO:0006469 +name: negative regulation of protein kinase activity +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity." [] +synonym: "down regulation of protein kinase activity" EXACT [] +synonym: "down-regulation of protein kinase activity" EXACT [] +synonym: "downregulation of protein kinase activity" EXACT [] +synonym: "inhibition of protein kinase activity" NARROW [] +is_a: GO:0001933 ! negative regulation of protein phosphorylation +is_a: GO:0033673 ! negative regulation of kinase activity +is_a: GO:0045859 ! regulation of protein kinase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0004672 ! negatively regulates protein kinase activity +relationship: RO:0002212 GO:0004672 ! negatively regulates protein kinase activity + [Term] id: GO:0006486 name: protein glycosylation @@ -5159,6 +5479,16 @@ synonym: "histidine metabolism" EXACT [] is_a: GO:0052803 ! imidazole-containing compound metabolic process is_a: GO:1901605 ! alpha-amino acid metabolic process +[Term] +id: GO:0006555 +name: methionine metabolic process +def: "The chemical reactions and pathways involving methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins." [] +synonym: "methionine and threonine metabolic process" BROAD [] +synonym: "methionine and threonine metabolism" BROAD [] +synonym: "methionine metabolism" EXACT [] +is_a: GO:0000096 ! sulfur amino acid metabolic process +is_a: GO:0009066 ! aspartate family amino acid metabolic process + [Term] id: GO:0006558 name: L-phenylalanine metabolic process @@ -5920,6 +6250,13 @@ is_a: GO:0098657 ! import into cell relationship: BFO:0000051 GO:0006900 ! has_part vesicle budding from membrane relationship: BFO:0000051 GO:0010324 ! has_part membrane invagination +[Term] +id: GO:0006898 +name: receptor-mediated endocytosis +def: "An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles." [] +synonym: "receptor mediated endocytosis" EXACT [] +is_a: GO:0006897 ! endocytosis + [Term] id: GO:0006900 name: vesicle budding from membrane @@ -6439,6 +6776,15 @@ is_a: GO:0006997 ! nucleus organization is_a: GO:0022412 ! cellular process involved in reproduction in multicellular organism relationship: BFO:0000050 GO:0007286 ! part of spermatid development +[Term] +id: GO:0007320 +name: insemination +def: "The introduction of semen or sperm into the genital tract of a female." [] +is_a: GO:0044703 ! multi-organism reproductive process +is_a: GO:0044706 ! multi-multicellular organism process +is_a: GO:0048609 ! multicellular organismal reproductive process +relationship: BFO:0000050 GO:0007620 ! part of copulation + [Term] id: GO:0007346 name: regulation of mitotic cell cycle @@ -6758,6 +7104,18 @@ synonym: "establishment and maintenance of protein localization" RELATED [] synonym: "protein localisation" EXACT [] is_a: GO:0033036 ! macromolecule localization +[Term] +id: GO:0008119 +name: thiopurine S-methyltransferase activity +def: "Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether." [] +synonym: "6-thiopurine transmethylase activity" EXACT [] +synonym: "mercaptopurine methyltransferase activity" EXACT [] +synonym: "S-adenosyl-L-methionine:thiopurine S-methyltransferase activity" EXACT [] +synonym: "thiopurine methyltransferase activity" EXACT [] +synonym: "TPMT" RELATED [] +is_a: GO:0008172 ! S-methyltransferase activity +is_a: GO:0008757 ! S-adenosylmethionine-dependent methyltransferase activity + [Term] id: GO:0008144 name: drug binding @@ -6792,6 +7150,12 @@ synonym: "methylase" BROAD [] is_a: GO:0016741 ! transferase activity, transferring one-carbon groups relationship: BFO:0000050 GO:0032259 ! part of methylation +[Term] +id: GO:0008172 +name: S-methyltransferase activity +def: "Catalysis of the transfer of a methyl group to the sulfur atom of an acceptor molecule." [] +is_a: GO:0008168 ! methyltransferase activity + [Term] id: GO:0008202 name: steroid metabolic process @@ -7250,6 +7614,16 @@ def: "The chemical reactions and pathways involving amino acids of the aspartate synonym: "aspartate family amino acid metabolism" EXACT [] is_a: GO:1901605 ! alpha-amino acid metabolic process +[Term] +id: GO:0009068 +name: aspartate family amino acid catabolic process +def: "The chemical reactions and pathways resulting in the breakdown of amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine." [] +synonym: "aspartate family amino acid breakdown" EXACT [] +synonym: "aspartate family amino acid catabolism" EXACT [] +synonym: "aspartate family amino acid degradation" EXACT [] +is_a: GO:0009066 ! aspartate family amino acid metabolic process +is_a: GO:1901606 ! alpha-amino acid catabolic process + [Term] id: GO:0009069 name: serine family amino acid metabolic process @@ -7296,6 +7670,17 @@ def: "The chemical reactions and pathways involving amino acids containing a bra synonym: "branched chain family amino acid metabolism" EXACT [] is_a: GO:0006520 ! cellular amino acid metabolic process +[Term] +id: GO:0009087 +name: methionine catabolic process +def: "The chemical reactions and pathways resulting in the breakdown of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins." [] +synonym: "methionine breakdown" EXACT [] +synonym: "methionine catabolism" EXACT [] +synonym: "methionine degradation" EXACT [] +is_a: GO:0000098 ! sulfur amino acid catabolic process +is_a: GO:0006555 ! methionine metabolic process +is_a: GO:0009068 ! aspartate family amino acid catabolic process + [Term] id: GO:0009100 name: glycoprotein metabolic process @@ -7873,6 +8258,28 @@ synonym: "response to hormone stimulus" EXACT [] is_a: GO:0009719 ! response to endogenous stimulus is_a: GO:0010033 ! response to organic substance +[Term] +id: GO:0009743 +name: response to carbohydrate +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus." [] +synonym: "response to carbohydrate stimulus" EXACT [] +is_a: GO:0010033 ! response to organic substance +is_a: GO:1901700 ! response to oxygen-containing compound + +[Term] +id: GO:0009746 +name: response to hexose +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus." [] +synonym: "response to hexose stimulus" EXACT [] +is_a: GO:0034284 ! response to monosaccharide + +[Term] +id: GO:0009749 +name: response to glucose +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus." [] +synonym: "response to glucose stimulus" EXACT [] +is_a: GO:0009746 ! response to hexose + [Term] id: GO:0009755 name: hormone-mediated signaling pathway @@ -8180,6 +8587,14 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006968 ! positively regulates cellular defense response relationship: RO:0002213 GO:0006968 ! positively regulates cellular defense response +[Term] +id: GO:0010243 +name: response to organonitrogen compound +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond." [] +synonym: "response to organic nitrogen" EXACT [] +is_a: GO:0010033 ! response to organic substance +is_a: GO:1901698 ! response to nitrogen compound + [Term] id: GO:0010256 name: endomembrane system organization @@ -8432,6 +8847,12 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0043170 ! negatively regulates macromolecule metabolic process relationship: RO:0002212 GO:0043170 ! negatively regulates macromolecule metabolic process +[Term] +id: GO:0010608 +name: posttranscriptional regulation of gene expression +def: "Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript." [] +is_a: GO:0010468 ! regulation of gene expression + [Term] id: GO:0010623 name: programmed cell death involved in cell development @@ -8857,6 +9278,38 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0016853 ! positively regulates isomerase activity relationship: RO:0002213 GO:0016853 ! positively regulates isomerase activity +[Term] +id: GO:0010921 +name: regulation of phosphatase activity +def: "Any process that modulates the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate." [] +is_a: GO:0035303 ! regulation of dephosphorylation +is_a: GO:0051336 ! regulation of hydrolase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0016791 ! regulates phosphatase activity +relationship: RO:0002211 GO:0016791 ! regulates phosphatase activity + +[Term] +id: GO:0010922 +name: positive regulation of phosphatase activity +def: "Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate." [] +is_a: GO:0010921 ! regulation of phosphatase activity +is_a: GO:0035306 ! positive regulation of dephosphorylation +is_a: GO:0051345 ! positive regulation of hydrolase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0016791 ! positively regulates phosphatase activity +relationship: RO:0002213 GO:0016791 ! positively regulates phosphatase activity + +[Term] +id: GO:0010923 +name: negative regulation of phosphatase activity +def: "Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate." [] +is_a: GO:0010921 ! regulation of phosphatase activity +is_a: GO:0035305 ! negative regulation of dephosphorylation +is_a: GO:0051346 ! negative regulation of hydrolase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0016791 ! negatively regulates phosphatase activity +relationship: RO:0002212 GO:0016791 ! negatively regulates phosphatase activity + [Term] id: GO:0010927 name: cellular component assembly involved in morphogenesis @@ -8982,6 +9435,35 @@ synonym: "movement along microtubule" EXACT [] is_a: GO:0030705 ! cytoskeleton-dependent intracellular transport is_a: GO:0099111 ! microtubule-based transport +[Term] +id: GO:0010984 +name: regulation of lipoprotein particle clearance +def: "Any process that modulates the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded." [] +is_a: GO:0051239 ! regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0034381 ! regulates plasma lipoprotein particle clearance +relationship: RO:0002211 GO:0034381 ! regulates plasma lipoprotein particle clearance + +[Term] +id: GO:0010985 +name: negative regulation of lipoprotein particle clearance +def: "Any process that decreases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded." [] +is_a: GO:0010984 ! regulation of lipoprotein particle clearance +is_a: GO:0051241 ! negative regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0034381 ! negatively regulates plasma lipoprotein particle clearance +relationship: RO:0002212 GO:0034381 ! negatively regulates plasma lipoprotein particle clearance + +[Term] +id: GO:0010986 +name: positive regulation of lipoprotein particle clearance +def: "Any process that increases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded." [] +is_a: GO:0010984 ! regulation of lipoprotein particle clearance +is_a: GO:0051240 ! positive regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0034381 ! positively regulates plasma lipoprotein particle clearance +relationship: RO:0002213 GO:0034381 ! positively regulates plasma lipoprotein particle clearance + [Term] id: GO:0012501 name: programmed cell death @@ -9185,6 +9667,13 @@ is_a: GO:0046943 ! carboxylic acid transmembrane transporter activity is_a: GO:1901505 ! carbohydrate derivative transmembrane transporter activity relationship: BFO:0000050 GO:0015739 ! part of sialic acid transport +[Term] +id: GO:0015152 +name: glucose-6-phosphate transmembrane transporter activity +def: "Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6." [] +is_a: GO:0022857 ! transmembrane transporter activity +relationship: BFO:0000050 GO:0015760 ! part of glucose-6-phosphate transport + [Term] id: GO:0015238 name: drug transmembrane transporter activity @@ -9217,6 +9706,24 @@ is_a: GO:0005216 ! ion channel activity is_a: GO:0022834 ! ligand-gated channel activity is_a: GO:0022839 ! ion gated channel activity +[Term] +id: GO:0015291 +name: secondary active transmembrane transporter activity +def: "Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters." [] +synonym: "active transporter" BROAD [] +synonym: "coupled carrier" EXACT [] +synonym: "electrochemical potential-driven transporter activity" EXACT [] +synonym: "energizer of outer membrane receptor-mediated transport activity" NARROW [] +synonym: "galactose/glucose (methylgalactoside) porter activity" RELATED [] +synonym: "heavy metal ion porter activity" NARROW [] +synonym: "ion-gradient-driven energizer activity" NARROW [] +synonym: "multidrug endosomal transmembrane transporter activity" NARROW [] +synonym: "nitrite/nitrate porter activity" NARROW [] +synonym: "porter activity" EXACT [] +synonym: "porters" EXACT [] +synonym: "secondary carrier-type facilitators" EXACT [] +is_a: GO:0022804 ! active transmembrane transporter activity + [Term] id: GO:0015318 name: inorganic molecular entity transmembrane transporter activity @@ -9225,6 +9732,13 @@ synonym: "inorganic solute uptake transmembrane transporter activity" EXACT [] synonym: "inorganic uptake permease activity" EXACT [] is_a: GO:0022857 ! transmembrane transporter activity +[Term] +id: GO:0015349 +name: thyroid hormone transmembrane transporter activity +def: "Enables the transfer of thyroid hormones from one side of a membrane to the other. Thyroid hormone are any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine." [] +is_a: GO:0015291 ! secondary active transmembrane transporter activity +relationship: BFO:0000050 GO:0070327 ! part of thyroid hormone transport + [Term] id: GO:0015669 name: gas transport @@ -9272,6 +9786,13 @@ def: "The directed movement of organic anions into, out of or within a cell, or is_a: GO:0006820 ! anion transport is_a: GO:0071702 ! organic substance transport +[Term] +id: GO:0015712 +name: hexose phosphate transport +def: "The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +is_a: GO:0015748 ! organophosphate ester transport +is_a: GO:1901264 ! carbohydrate derivative transport + [Term] id: GO:0015723 name: bilirubin transport @@ -9286,6 +9807,12 @@ def: "The directed movement of sialic acid into, out of or within a cell, or bet is_a: GO:0046942 ! carboxylic acid transport is_a: GO:1901264 ! carbohydrate derivative transport +[Term] +id: GO:0015748 +name: organophosphate ester transport +def: "The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds." [] +is_a: GO:0071702 ! organic substance transport + [Term] id: GO:0015749 name: monosaccharide transmembrane transport @@ -9298,6 +9825,12 @@ id: GO:0015758 is_obsolete: true replaced_by: GO:1904659 +[Term] +id: GO:0015760 +name: glucose-6-phosphate transport +def: "The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6." [] +is_a: GO:0015712 ! hexose phosphate transport + [Term] id: GO:0015804 name: neutral amino acid transport @@ -9699,6 +10232,12 @@ name: phosphorylation def: "The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide." [] is_a: GO:0006796 ! phosphate-containing compound metabolic process +[Term] +id: GO:0016311 +name: dephosphorylation +def: "The process of removing one or more phosphoric (ester or anhydride) residues from a molecule." [] +is_a: GO:0006796 ! phosphate-containing compound metabolic process + [Term] id: GO:0016331 name: morphogenesis of embryonic epithelium @@ -10012,6 +10551,25 @@ def: "Catalysis of the hydrolysis of any ester bond." [] synonym: "esterase activity" EXACT [] is_a: GO:0016787 ! hydrolase activity +[Term] +id: GO:0016791 +name: phosphatase activity +def: "Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate." [] +synonym: "4-nitrophenylphosphatase activity" NARROW [] +synonym: "4-nitrophenylphosphate phosphohydrolase activity" NARROW [] +synonym: "ecto-p-nitrophenyl phosphatase activity" NARROW [] +synonym: "K-pNPPase activity" NARROW [] +synonym: "nitrophenyl phosphatase activity" NARROW [] +synonym: "NPPase activity" NARROW [] +synonym: "p-nitrophenylphosphatase activity" NARROW [] +synonym: "p-nitrophenylphosphate phosphohydrolase activity" NARROW [] +synonym: "para-nitrophenyl phosphatase activity" NARROW [] +synonym: "phosphatase" RELATED [] +synonym: "phosphoric monoester hydrolase activity" EXACT [] +synonym: "PNPPase activity" NARROW [] +is_a: GO:0042578 ! phosphoric ester hydrolase activity +relationship: BFO:0000050 GO:0016311 ! part of dephosphorylation + [Term] id: GO:0016798 name: hydrolase activity, acting on glycosyl bonds @@ -10094,6 +10652,19 @@ name: hydro-lyase activity def: "Catalysis of the cleavage of a carbon-oxygen bond by elimination of water." [] is_a: GO:0016835 ! carbon-oxygen lyase activity +[Term] +id: GO:0016840 +name: carbon-nitrogen lyase activity +def: "Catalysis of the release of ammonia or one of its derivatives, with the formation of a double bond or ring. Enzymes with this activity may catalyze the actual elimination of the ammonia, amine or amide, e.g. CH-CH(-NH-R) = C=CH- + NH2-R. Others, however, catalyze elimination of another component, e.g. water, which is followed by spontaneous reactions that lead to breakage of the C-N bond, e.g. L-serine ammonia-lyase (EC:4.3.1.17), so that the overall reaction is C(-OH)-CH(-NH2) = CH2-CO- + NH3, i.e. an elimination with rearrangement. The sub-subclasses of EC:4.3 are the ammonia-lyases (EC:4.3.1), lyases acting on amides, amidines, etc. (EC:4.3.2), the amine-lyases (EC:4.3.3), and other carbon-nitrogen lyases (EC:4.3.99)." [] +synonym: "other carbon-nitrogen lyase activity" NARROW [] +is_a: GO:0016829 ! lyase activity + +[Term] +id: GO:0016842 +name: amidine-lyase activity +def: "Catalysis of the release of amides or amidines by the cleavage of a carbon-nitrogen bond or the reverse reaction with an amide or amidine as a substrate." [] +is_a: GO:0016840 ! carbon-nitrogen lyase activity + [Term] id: GO:0016853 name: isomerase activity @@ -10210,6 +10781,30 @@ def: "The self-renewing division of a stem cell. A stem cell is an undifferentia synonym: "stem cell renewal" EXACT [] is_a: GO:0051301 ! cell division +[Term] +id: GO:0017148 +name: negative regulation of translation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA." [] +synonym: "down regulation of protein biosynthetic process" EXACT [] +synonym: "down-regulation of protein biosynthetic process" EXACT [] +synonym: "downregulation of protein biosynthetic process" EXACT [] +synonym: "inhibition of protein biosynthetic process" NARROW [] +synonym: "negative regulation of protein anabolism" EXACT [] +synonym: "negative regulation of protein biosynthesis" EXACT [] +synonym: "negative regulation of protein biosynthetic process" EXACT [] +synonym: "negative regulation of protein formation" EXACT [] +synonym: "negative regulation of protein synthesis" EXACT [] +synonym: "protein biosynthesis inhibitor activity" RELATED [] +synonym: "protein biosynthetic process inhibitor activity" RELATED [] +is_a: GO:0006417 ! regulation of translation +is_a: GO:0010629 ! negative regulation of gene expression +is_a: GO:0032269 ! negative regulation of cellular protein metabolic process +is_a: GO:0034249 ! negative regulation of cellular amide metabolic process +is_a: GO:2000113 ! negative regulation of cellular macromolecule biosynthetic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006412 ! negatively regulates translation +relationship: RO:0002212 GO:0006412 ! negatively regulates translation + [Term] id: GO:0017168 name: 5-oxoprolinase (ATP-hydrolyzing) activity @@ -10311,6 +10906,12 @@ def: "Catalysis of the transfer of a phosphate group, usually from ATP, to a car is_a: GO:0016301 ! kinase activity relationship: BFO:0000050 GO:0046835 ! part of carbohydrate phosphorylation +[Term] +id: GO:0019203 +name: carbohydrate phosphatase activity +def: "Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate." [] +is_a: GO:0016791 ! phosphatase activity + [Term] id: GO:0019216 name: regulation of lipid metabolic process @@ -10850,6 +11451,25 @@ name: biological adhesion def: "The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions." [] is_a: GO:0008150 ! biological_process +[Term] +id: GO:0022613 +name: ribonucleoprotein complex biogenesis +def: "A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex." [] +synonym: "ribonucleoprotein complex biogenesis and assembly" EXACT [] +synonym: "RNA-protein complex biogenesis" EXACT [] +is_a: GO:0044085 ! cellular component biogenesis + +[Term] +id: GO:0022618 +name: ribonucleoprotein complex assembly +def: "The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex." [] +synonym: "protein-RNA complex assembly" EXACT [] +synonym: "RNA-protein complex assembly" EXACT [] +synonym: "RNP complex assembly" EXACT [] +is_a: GO:0034622 ! cellular protein-containing complex assembly +is_a: GO:0071826 ! ribonucleoprotein complex subunit organization +relationship: BFO:0000050 GO:0022613 ! part of ribonucleoprotein complex biogenesis + [Term] id: GO:0022626 name: cytosolic ribosome @@ -10870,6 +11490,16 @@ synonym: "porters" BROAD [] synonym: "uniporter activity z" NARROW [] is_a: GO:0022857 ! transmembrane transporter activity +[Term] +id: GO:0022804 +name: active transmembrane transporter activity +def: "Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction." [] +synonym: "active carrier activity" EXACT [] +synonym: "carrier activity" EXACT [] +synonym: "permease activity" EXACT [] +synonym: "pump activity" EXACT [] +is_a: GO:0022857 ! transmembrane transporter activity + [Term] id: GO:0022824 name: transmitter-gated ion channel activity @@ -12177,6 +12807,36 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0044248 ! positively regulates cellular catabolic process relationship: RO:0002213 GO:0044248 ! positively regulates cellular catabolic process +[Term] +id: GO:0031333 +name: negative regulation of protein complex assembly +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly." [] +synonym: "down regulation of protein complex assembly" EXACT [] +synonym: "down-regulation of protein complex assembly" EXACT [] +synonym: "downregulation of protein complex assembly" EXACT [] +synonym: "inhibition of protein complex assembly" NARROW [] +is_a: GO:0043254 ! regulation of protein complex assembly +is_a: GO:0051129 ! negative regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0065003 ! negatively regulates protein-containing complex assembly +relationship: RO:0002212 GO:0065003 ! negatively regulates protein-containing complex assembly + +[Term] +id: GO:0031334 +name: positive regulation of protein complex assembly +def: "Any process that activates or increases the frequency, rate or extent of protein complex assembly." [] +synonym: "activation of protein complex assembly" NARROW [] +synonym: "stimulation of protein complex assembly" NARROW [] +synonym: "up regulation of protein complex assembly" EXACT [] +synonym: "up-regulation of protein complex assembly" EXACT [] +synonym: "upregulation of protein complex assembly" EXACT [] +is_a: GO:0043254 ! regulation of protein complex assembly +is_a: GO:0044089 ! positive regulation of cellular component biogenesis +is_a: GO:0051130 ! positive regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0065003 ! positively regulates protein-containing complex assembly +relationship: RO:0002213 GO:0065003 ! positively regulates protein-containing complex assembly + [Term] id: GO:0031335 name: regulation of sulfur amino acid metabolic process @@ -12853,6 +13513,24 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0031667 ! positively regulates response to nutrient levels relationship: RO:0002213 GO:0031667 ! positively regulates response to nutrient levels +[Term] +id: GO:0032113 +name: regulation of carbohydrate phosphatase activity +def: "Any process that modulates the frequency, rate or extent of carbohydrate phosphatase activity, the catalysis of the hydrolysis of phosphate from a carbohydrate phosphate." [] +is_a: GO:0010921 ! regulation of phosphatase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0019203 ! regulates carbohydrate phosphatase activity +relationship: RO:0002211 GO:0019203 ! regulates carbohydrate phosphatase activity + +[Term] +id: GO:0032114 +name: regulation of glucose-6-phosphatase activity +def: "Any process that modulates the frequency, rate or extent of glucose-6-phosphatase activity, the catalysis of the reaction: D-glucose 6-phosphate + H2O = D-glucose + phosphate." [] +is_a: GO:0032113 ! regulation of carbohydrate phosphatase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0004346 ! regulates glucose-6-phosphatase activity +relationship: RO:0002211 GO:0004346 ! regulates glucose-6-phosphatase activity + [Term] id: GO:0032217 name: riboflavin transmembrane transporter activity @@ -12922,6 +13600,57 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0044267 ! positively regulates cellular protein metabolic process relationship: RO:0002213 GO:0044267 ! positively regulates cellular protein metabolic process +[Term] +id: GO:0032274 +name: gonadotropin secretion +def: "The regulated release of a gonadotropin, any hormone that stimulates the gonads, especially follicle-stimulating hormone and luteinizing hormone." [] +synonym: "gonadotrophin secretion" EXACT [] +is_a: GO:0060986 ! endocrine hormone secretion + +[Term] +id: GO:0032276 +name: regulation of gonadotropin secretion +def: "Any process that modulates the frequency, rate or extent of the regulated release of a gonadotropin." [] +synonym: "regulation of gonadotrophin secretion" EXACT [] +is_a: GO:0044060 ! regulation of endocrine process +is_a: GO:0046883 ! regulation of hormone secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0032274 ! regulates gonadotropin secretion +relationship: RO:0002211 GO:0032274 ! regulates gonadotropin secretion + +[Term] +id: GO:0032277 +name: negative regulation of gonadotropin secretion +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a gonadotropin." [] +synonym: "down regulation of gonadotropin secretion" EXACT [] +synonym: "down-regulation of gonadotropin secretion" EXACT [] +synonym: "downregulation of gonadotropin secretion" EXACT [] +synonym: "inhibition of gonadotropin secretion" NARROW [] +synonym: "negative regulation of gonadotrophin secretion" EXACT [] +is_a: GO:0032276 ! regulation of gonadotropin secretion +is_a: GO:0046888 ! negative regulation of hormone secretion +is_a: GO:0051241 ! negative regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0032274 ! negatively regulates gonadotropin secretion +relationship: RO:0002212 GO:0032274 ! negatively regulates gonadotropin secretion + +[Term] +id: GO:0032278 +name: positive regulation of gonadotropin secretion +def: "Any process that activates or increases the frequency, rate or extent of the regulated release of a gonadotropin." [] +synonym: "activation of gonadotropin secretion" NARROW [] +synonym: "positive regulation of gonadotrophin secretion" EXACT [] +synonym: "stimulation of gonadotropin secretion" NARROW [] +synonym: "up regulation of gonadotropin secretion" EXACT [] +synonym: "up-regulation of gonadotropin secretion" EXACT [] +synonym: "upregulation of gonadotropin secretion" EXACT [] +is_a: GO:0032276 ! regulation of gonadotropin secretion +is_a: GO:0046887 ! positive regulation of hormone secretion +is_a: GO:0051240 ! positive regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0032274 ! positively regulates gonadotropin secretion +relationship: RO:0002213 GO:0032274 ! positively regulates gonadotropin secretion + [Term] id: GO:0032350 name: regulation of hormone metabolic process @@ -13179,6 +13908,21 @@ def: "The biological process in which new individuals are produced by one or two is_a: GO:0000003 ! reproduction is_a: GO:0032501 ! multicellular organismal process +[Term] +id: GO:0032543 +name: mitochondrial translation +def: "The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code." [] +synonym: "mitochondrial protein anabolism" EXACT [] +synonym: "mitochondrial protein biosynthesis" EXACT [] +synonym: "mitochondrial protein formation" EXACT [] +synonym: "mitochondrial protein synthesis" EXACT [] +synonym: "mitochondrial protein translation" EXACT [] +is_a: GO:0006412 ! translation +intersection_of: GO:0006412 ! translation +intersection_of: BFO:0000050 GO:0140053 ! part of mitochondrial gene expression +intersection_of: BFO:0000066 GO:0005739 ! occurs in mitochondrion +relationship: BFO:0000050 GO:0140053 ! part of mitochondrial gene expression + [Term] id: GO:0032592 name: integral component of mitochondrial membrane @@ -13319,6 +14063,20 @@ is_a: GO:0120038 ! plasma membrane bounded cell projection part intersection_of: GO:0005737 ! cytoplasm intersection_of: BFO:0000050 GO:0120025 ! part of plasma membrane bounded cell projection +[Term] +id: GO:0032868 +name: response to insulin +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms." [] +synonym: "response to insulin stimulus" EXACT [] +is_a: GO:0043434 ! response to peptide hormone + +[Term] +id: GO:0032869 +name: cellular response to insulin stimulus +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms." [] +is_a: GO:0032868 ! response to insulin +is_a: GO:0071375 ! cellular response to peptide hormone stimulus + [Term] id: GO:0032870 name: cellular response to hormone stimulus @@ -13421,6 +14179,23 @@ synonym: "tissue secretion" EXACT [] is_a: GO:0032501 ! multicellular organismal process is_a: GO:0046903 ! secretion +[Term] +id: GO:0032984 +name: protein-containing complex disassembly +def: "The disaggregation of a protein-containing macromolecular complex into its constituent components." [] +synonym: "cellular macromolecule complex disassembly" RELATED [] +synonym: "macromolecule complex disassembly" RELATED [] +synonym: "protein complex disassembly" EXACT [] +is_a: GO:0022411 ! cellular component disassembly +is_a: GO:0043933 ! protein-containing complex subunit organization + +[Term] +id: GO:0032987 +name: protein-lipid complex disassembly +def: "The disaggregation of a protein-lipid complex into its constituent components." [] +is_a: GO:0032984 ! protein-containing complex disassembly +is_a: GO:0071825 ! protein-lipid complex subunit organization + [Term] id: GO:0032989 name: cellular component morphogenesis @@ -13885,6 +14660,12 @@ synonym: "cholesterol formation via lathosterol" EXACT [] synonym: "cholesterol synthesis via lathosterol" EXACT [] is_a: GO:0006695 ! cholesterol biosynthetic process +[Term] +id: GO:0033500 +name: carbohydrate homeostasis +def: "A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell." [] +is_a: GO:0048878 ! chemical homeostasis + [Term] id: GO:0033554 name: cellular response to stress @@ -14151,6 +14932,13 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0019627 ! regulates urea metabolic process relationship: RO:0002211 GO:0019627 ! regulates urea metabolic process +[Term] +id: GO:0034284 +name: response to monosaccharide +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus." [] +synonym: "response to monosaccharide stimulus" EXACT [] +is_a: GO:0009743 ! response to carbohydrate + [Term] id: GO:0034311 name: diol metabolic process @@ -14159,6 +14947,16 @@ synonym: "dihydric alcohol metabolic process" RELATED [] synonym: "diol metabolism" EXACT [] is_a: GO:0019751 ! polyol metabolic process +[Term] +id: GO:0034381 +name: plasma lipoprotein particle clearance +def: "The process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded." [] +synonym: "lipoprotein particle clearance" EXACT [] +is_a: GO:0032501 ! multicellular organismal process +relationship: BFO:0000050 GO:0097006 ! part of regulation of plasma lipoprotein particle levels +relationship: BFO:0000051 GO:0006898 ! has_part receptor-mediated endocytosis +relationship: BFO:0000051 GO:0071829 ! has_part plasma lipoprotein particle disassembly + [Term] id: GO:0034399 name: nuclear periphery @@ -14194,6 +14992,14 @@ synonym: "channel localizer activity" NARROW [] is_a: GO:0008104 ! protein localization is_a: GO:0070727 ! cellular macromolecule localization +[Term] +id: GO:0034622 +name: cellular protein-containing complex assembly +def: "The aggregation, arrangement and bonding together of a set of components to form a protein complex, occurring at the level of an individual cell." [] +synonym: "cellular macromolecule complex assembly" RELATED [] +synonym: "cellular protein complex assembly" EXACT [] +is_a: GO:0065003 ! protein-containing complex assembly + [Term] id: GO:0034641 name: cellular nitrogen compound metabolic process @@ -14597,6 +15403,44 @@ name: regulation of tube diameter def: "Any process that modulates the diameter of a tube." [] is_a: GO:0035150 ! regulation of tube size +[Term] +id: GO:0035303 +name: regulation of dephosphorylation +def: "Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule." [] +is_a: GO:0019220 ! regulation of phosphate metabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0016311 ! regulates dephosphorylation +relationship: RO:0002211 GO:0016311 ! regulates dephosphorylation + +[Term] +id: GO:0035305 +name: negative regulation of dephosphorylation +def: "Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule." [] +synonym: "down regulation of dephosphorylation" EXACT [] +synonym: "down-regulation of dephosphorylation" EXACT [] +synonym: "downregulation of dephosphorylation" EXACT [] +synonym: "inhibition of dephosphorylation" NARROW [] +is_a: GO:0035303 ! regulation of dephosphorylation +is_a: GO:0045936 ! negative regulation of phosphate metabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0016311 ! negatively regulates dephosphorylation +relationship: RO:0002212 GO:0016311 ! negatively regulates dephosphorylation + +[Term] +id: GO:0035306 +name: positive regulation of dephosphorylation +def: "Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule." [] +synonym: "activation of dephosphorylation" NARROW [] +synonym: "stimulation of dephosphorylation" NARROW [] +synonym: "up regulation of dephosphorylation" EXACT [] +synonym: "up-regulation of dephosphorylation" EXACT [] +synonym: "upregulation of dephosphorylation" EXACT [] +is_a: GO:0035303 ! regulation of dephosphorylation +is_a: GO:0045937 ! positive regulation of phosphate metabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0016311 ! positively regulates dephosphorylation +relationship: RO:0002213 GO:0016311 ! positively regulates dephosphorylation + [Term] id: GO:0035369 name: pre-B cell receptor complex @@ -14658,6 +15502,29 @@ intersection_of: GO:0042073 ! intraciliary transport intersection_of: BFO:0000050 GO:0060271 ! part of cilium assembly relationship: BFO:0000050 GO:0060271 ! part of cilium assembly +[Term] +id: GO:0035773 +name: insulin secretion involved in cellular response to glucose stimulus +def: "The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus." [] +synonym: "insulin secretion involved in cellular response to glucose" EXACT [] +is_a: GO:0030073 ! insulin secretion +is_a: GO:0051649 ! establishment of localization in cell +intersection_of: GO:0030073 ! insulin secretion +intersection_of: BFO:0000050 GO:0071333 ! part of cellular response to glucose stimulus +relationship: BFO:0000050 GO:0071333 ! part of cellular response to glucose stimulus + +[Term] +id: GO:0035774 +name: positive regulation of insulin secretion involved in cellular response to glucose stimulus +def: "Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose." [] +synonym: "positive regulation of insulin secretion in response to glucose" EXACT [] +is_a: GO:0032024 ! positive regulation of insulin secretion +is_a: GO:0048584 ! positive regulation of response to stimulus +is_a: GO:0061178 ! regulation of insulin secretion involved in cellular response to glucose stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0035773 ! positively regulates insulin secretion involved in cellular response to glucose stimulus +relationship: RO:0002213 GO:0035773 ! positively regulates insulin secretion involved in cellular response to glucose stimulus + [Term] id: GO:0035898 name: parathyroid hormone secretion @@ -14694,6 +15561,12 @@ def: "The regulated release of aldosterone into the circulatory system. Aldoster is_a: GO:0015850 ! organic hydroxy compound transport is_a: GO:0035931 ! mineralocorticoid secretion +[Term] +id: GO:0035933 +name: glucocorticoid secretion +def: "The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood." [] +is_a: GO:0035930 ! corticosteroid hormone secretion + [Term] id: GO:0035935 name: androgen secretion @@ -14827,6 +15700,20 @@ synonym: "receptor activity" BROAD [] synonym: "receptor activity involved in signal transduction" EXACT [] is_a: GO:0060089 ! molecular transducer activity +[Term] +id: GO:0038024 +name: cargo receptor activity +def: "Combining selectively with an extracellular substance and delivering the substance into the cell via endocytosis." [] +synonym: "endocytic receptor activity" EXACT [] +synonym: "receptor activity" BROAD [] +synonym: "receptor activity involved in ligand uptake" EXACT [] +synonym: "receptor activity involved in receptor-mediated endocytosis" EXACT [] +synonym: "transport receptor activity" BROAD [] +is_a: GO:0003674 ! molecular_function +intersection_of: GO:0003674 ! molecular_function +intersection_of: BFO:0000050 GO:0006898 ! part of receptor-mediated endocytosis +relationship: BFO:0000050 GO:0006898 ! part of receptor-mediated endocytosis + [Term] id: GO:0038064 name: collagen receptor activity @@ -15495,6 +16382,12 @@ is_a: GO:0019814 ! immunoglobulin complex is_a: GO:0044421 ! extracellular region part relationship: BFO:0000050 GO:0005615 ! part of extracellular space +[Term] +id: GO:0042578 +name: phosphoric ester hydrolase activity +def: "Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3." [] +is_a: GO:0016788 ! hydrolase activity, acting on ester bonds + [Term] id: GO:0042579 name: microbody @@ -15535,6 +16428,12 @@ synonym: "positive regulation of homeostatic process" RELATED [] synonym: "regulation of homeostatic process" RELATED [] is_a: GO:0065008 ! regulation of biological quality +[Term] +id: GO:0042593 +name: glucose homeostasis +def: "Any process involved in the maintenance of an internal steady state of glucose within an organism or cell." [] +is_a: GO:0033500 ! carbohydrate homeostasis + [Term] id: GO:0042611 name: MHC protein complex @@ -15574,6 +16473,13 @@ synonym: "myogenesis" RELATED [] is_a: GO:0030154 ! cell differentiation relationship: BFO:0000050 GO:0061061 ! part of muscle structure development +[Term] +id: GO:0042713 +name: sperm ejaculation +def: "The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract." [] +is_a: GO:0048609 ! multicellular organismal reproductive process +relationship: BFO:0000050 GO:0007320 ! part of insemination + [Term] id: GO:0042737 name: drug catabolic process @@ -16015,6 +16921,21 @@ name: surfactant homeostasis def: "Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli." [] is_a: GO:0048875 ! chemical homeostasis within a tissue +[Term] +id: GO:0043143 +name: regulation of translation by machinery localization +def: "Any process in which proteins and protein complexes involved in translation are transported to, or maintained in, a specific location." [] +synonym: "establishment and maintenance of translational machinery localization" EXACT [] +synonym: "establishment and maintenance of translational protein localization" EXACT [] +synonym: "regulation of translation by machinery localisation" EXACT [] +synonym: "translational machinery localization" EXACT [] +synonym: "translational protein localization" EXACT [] +is_a: GO:0006417 ! regulation of translation +is_a: GO:0034613 ! cellular protein localization +intersection_of: GO:0008104 ! protein localization +intersection_of: BFO:0000050 GO:0006412 ! part of translation +relationship: BFO:0000050 GO:0006412 ! part of translation + [Term] id: GO:0043167 name: ion binding @@ -16134,6 +17055,54 @@ name: receptor complex def: "Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function." [] is_a: GO:0032991 ! protein-containing complex +[Term] +id: GO:0043242 +name: negative regulation of protein complex disassembly +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components." [] +synonym: "down regulation of protein complex disassembly" EXACT [] +synonym: "down-regulation of protein complex disassembly" EXACT [] +synonym: "downregulation of protein complex disassembly" EXACT [] +synonym: "inhibition of protein complex disassembly" NARROW [] +is_a: GO:0043244 ! regulation of protein complex disassembly +is_a: GO:0051129 ! negative regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0032984 ! negatively regulates protein-containing complex disassembly +relationship: RO:0002212 GO:0032984 ! negatively regulates protein-containing complex disassembly + +[Term] +id: GO:0043243 +name: positive regulation of protein complex disassembly +def: "Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components." [] +synonym: "activation of protein complex disassembly" NARROW [] +synonym: "stimulation of protein complex disassembly" NARROW [] +synonym: "up regulation of protein complex disassembly" EXACT [] +synonym: "up-regulation of protein complex disassembly" EXACT [] +synonym: "upregulation of protein complex disassembly" EXACT [] +is_a: GO:0043244 ! regulation of protein complex disassembly +is_a: GO:0051130 ! positive regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0032984 ! positively regulates protein-containing complex disassembly +relationship: RO:0002213 GO:0032984 ! positively regulates protein-containing complex disassembly + +[Term] +id: GO:0043244 +name: regulation of protein complex disassembly +def: "Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components." [] +is_a: GO:0051128 ! regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0032984 ! regulates protein-containing complex disassembly +relationship: RO:0002211 GO:0032984 ! regulates protein-containing complex disassembly + +[Term] +id: GO:0043254 +name: regulation of protein complex assembly +def: "Any process that modulates the frequency, rate or extent of protein complex assembly." [] +is_a: GO:0044087 ! regulation of cellular component biogenesis +is_a: GO:0051128 ! regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0065003 ! regulates protein-containing complex assembly +relationship: RO:0002211 GO:0065003 ! regulates protein-containing complex assembly + [Term] id: GO:0043255 name: regulation of carbohydrate biosynthetic process @@ -16255,6 +17224,15 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0005515 ! regulates protein binding relationship: RO:0002211 GO:0005515 ! regulates protein binding +[Term] +id: GO:0043400 +name: cortisol secretion +def: "The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland." [] +synonym: "hydrocortisone secretion" EXACT [] +is_a: GO:0015850 ! organic hydroxy compound transport +is_a: GO:0015893 ! drug transport +is_a: GO:0035933 ! glucocorticoid secretion + [Term] id: GO:0043401 name: steroid hormone mediated signaling pathway @@ -16293,6 +17271,15 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0003700 ! negatively regulates DNA binding transcription factor activity relationship: RO:0002212 GO:0003700 ! negatively regulates DNA binding transcription factor activity +[Term] +id: GO:0043434 +name: response to peptide hormone +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals." [] +synonym: "response to peptide hormone stimulus" EXACT [] +synonym: "response to polypeptide hormone stimulus" EXACT [] +is_a: GO:0009725 ! response to hormone +is_a: GO:1901652 ! response to peptide + [Term] id: GO:0043436 name: oxoacid metabolic process @@ -16399,6 +17386,12 @@ def: "The chemical reactions and pathways resulting in the formation of an amide is_a: GO:0043603 ! cellular amide metabolic process is_a: GO:0044271 ! cellular nitrogen compound biosynthetic process +[Term] +id: GO:0043624 +name: cellular protein complex disassembly +def: "The disaggregation of a protein complex into its constituent components, occurring at the level of an individual cell. Protein complexes may have other associated non-protein prosthetic groups, such as nucleic acids, metal ions or carbohydrate groups." [] +is_a: GO:0032984 ! protein-containing complex disassembly + [Term] id: GO:0043648 name: dicarboxylic acid metabolic process @@ -16458,6 +17451,20 @@ intersection_of: GO:0001503 ! ossification intersection_of: BFO:0000050 GO:0046849 ! part of bone remodeling relationship: BFO:0000050 GO:0046849 ! part of bone remodeling +[Term] +id: GO:0043933 +name: protein-containing complex subunit organization +def: "Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex." [] +synonym: "cellular macromolecular complex organization" RELATED [] +synonym: "cellular macromolecular complex subunit organisation" RELATED [] +synonym: "cellular macromolecular complex subunit organization" RELATED [] +synonym: "macromolecular complex organization" RELATED [] +synonym: "macromolecular complex subunit organisation" RELATED [] +synonym: "macromolecular complex subunit organization" RELATED [] +synonym: "protein complex subunit organisation" EXACT [] +synonym: "protein complex subunit organization" EXACT [] +is_a: GO:0016043 ! cellular component organization + [Term] id: GO:0044042 name: glucan metabolic process @@ -16705,6 +17712,18 @@ synonym: "sulfur compound synthesis" EXACT [] is_a: GO:0006790 ! sulfur compound metabolic process is_a: GO:0044249 ! cellular biosynthetic process +[Term] +id: GO:0044273 +name: sulfur compound catabolic process +def: "The chemical reactions and pathways resulting in the breakdown of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione." [] +synonym: "sulfur catabolic process" NARROW [] +synonym: "sulfur catabolism" NARROW [] +synonym: "sulfur compound breakdown" EXACT [] +synonym: "sulfur compound catabolism" EXACT [] +synonym: "sulfur compound degradation" EXACT [] +is_a: GO:0006790 ! sulfur compound metabolic process +is_a: GO:0044248 ! cellular catabolic process + [Term] id: GO:0044281 name: small molecule metabolic process @@ -16728,6 +17747,14 @@ synonym: "small molecule biosynthesis" EXACT [] is_a: GO:0009058 ! biosynthetic process is_a: GO:0044281 ! small molecule metabolic process +[Term] +id: GO:0044381 +name: glucose import in response to insulin stimulus +def: "The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus." [] +synonym: "cellular glucose import in response to insulin stimulus" EXACT [] +is_a: GO:0046323 ! glucose import +relationship: BFO:0000050 GO:0032869 ! part of cellular response to insulin stimulus + [Term] id: GO:0044420 name: extracellular matrix component @@ -17166,6 +18193,16 @@ intersection_of: GO:0007267 ! cell-cell signaling intersection_of: BFO:0000050 GO:0045165 ! part of cell fate commitment relationship: BFO:0000050 GO:0045165 ! part of cell fate commitment +[Term] +id: GO:0045182 +name: translation regulator activity +def: "Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome." [] +synonym: "translation factor activity" EXACT [] +is_a: GO:0003674 ! molecular_function +intersection_of: GO:0003674 ! molecular_function +intersection_of: BFO:0000050 GO:0006417 ! part of regulation of translation +relationship: BFO:0000050 GO:0006417 ! part of regulation of translation + [Term] id: GO:0045184 name: establishment of protein localization @@ -18285,6 +19322,30 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0060271 ! positively regulates cilium assembly relationship: RO:0002213 GO:0060271 ! positively regulates cilium assembly +[Term] +id: GO:0045727 +name: positive regulation of translation +def: "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA." [] +synonym: "activation of protein biosynthetic process" NARROW [] +synonym: "positive regulation of protein anabolism" EXACT [] +synonym: "positive regulation of protein biosynthesis" EXACT [] +synonym: "positive regulation of protein biosynthetic process" EXACT [] +synonym: "positive regulation of protein formation" EXACT [] +synonym: "positive regulation of protein synthesis" EXACT [] +synonym: "stimulation of protein biosynthetic process" NARROW [] +synonym: "up regulation of protein biosynthetic process" EXACT [] +synonym: "up-regulation of protein biosynthetic process" EXACT [] +synonym: "upregulation of protein biosynthetic process" EXACT [] +is_a: GO:0006417 ! regulation of translation +is_a: GO:0010557 ! positive regulation of macromolecule biosynthetic process +is_a: GO:0010628 ! positive regulation of gene expression +is_a: GO:0031328 ! positive regulation of cellular biosynthetic process +is_a: GO:0032270 ! positive regulation of cellular protein metabolic process +is_a: GO:0034250 ! positive regulation of cellular amide metabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006412 ! positively regulates translation +relationship: RO:0002213 GO:0006412 ! positively regulates translation + [Term] id: GO:0045738 name: negative regulation of DNA repair @@ -18795,6 +19856,31 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0014706 ! positively regulates striated muscle tissue development relationship: RO:0002213 GO:0014706 ! positively regulates striated muscle tissue development +[Term] +id: GO:0045859 +name: regulation of protein kinase activity +def: "Any process that modulates the frequency, rate or extent of protein kinase activity." [] +is_a: GO:0001932 ! regulation of protein phosphorylation +is_a: GO:0043549 ! regulation of kinase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0004672 ! regulates protein kinase activity +relationship: RO:0002211 GO:0004672 ! regulates protein kinase activity + +[Term] +id: GO:0045860 +name: positive regulation of protein kinase activity +def: "Any process that activates or increases the frequency, rate or extent of protein kinase activity." [] +synonym: "stimulation of protein kinase activity" NARROW [] +synonym: "up regulation of protein kinase activity" EXACT [] +synonym: "up-regulation of protein kinase activity" EXACT [] +synonym: "upregulation of protein kinase activity" EXACT [] +is_a: GO:0001934 ! positive regulation of protein phosphorylation +is_a: GO:0033674 ! positive regulation of kinase activity +is_a: GO:0045859 ! regulation of protein kinase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0004672 ! positively regulates protein kinase activity +relationship: RO:0002213 GO:0004672 ! positively regulates protein kinase activity + [Term] id: GO:0045861 name: negative regulation of proteolysis @@ -18908,6 +19994,66 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006351 ! positively regulates transcription, DNA-templated relationship: RO:0002213 GO:0006351 ! positively regulates transcription, DNA-templated +[Term] +id: GO:0045900 +name: negative regulation of translational elongation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation." [] +synonym: "down regulation of translational elongation" EXACT [] +synonym: "down-regulation of translational elongation" EXACT [] +synonym: "downregulation of translational elongation" EXACT [] +synonym: "inhibition of translational elongation" NARROW [] +is_a: GO:0006448 ! regulation of translational elongation +is_a: GO:0017148 ! negative regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006414 ! negatively regulates translational elongation +relationship: RO:0002212 GO:0006414 ! negatively regulates translational elongation + +[Term] +id: GO:0045901 +name: positive regulation of translational elongation +def: "Any process that activates or increases the frequency, rate or extent of translational elongation." [] +synonym: "activation of translational elongation" NARROW [] +synonym: "stimulation of translational elongation" NARROW [] +synonym: "up regulation of translational elongation" EXACT [] +synonym: "up-regulation of translational elongation" EXACT [] +synonym: "upregulation of translational elongation" EXACT [] +is_a: GO:0006448 ! regulation of translational elongation +is_a: GO:0045727 ! positive regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006414 ! positively regulates translational elongation +relationship: RO:0002213 GO:0006414 ! positively regulates translational elongation + +[Term] +id: GO:0045904 +name: negative regulation of translational termination +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of translational termination." [] +synonym: "down regulation of translational termination" EXACT [] +synonym: "down-regulation of translational termination" EXACT [] +synonym: "downregulation of translational termination" EXACT [] +synonym: "inhibition of translational termination" NARROW [] +is_a: GO:0006449 ! regulation of translational termination +is_a: GO:0017148 ! negative regulation of translation +is_a: GO:0043242 ! negative regulation of protein complex disassembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006415 ! negatively regulates translational termination +relationship: RO:0002212 GO:0006415 ! negatively regulates translational termination + +[Term] +id: GO:0045905 +name: positive regulation of translational termination +def: "Any process that activates or increases the frequency, rate or extent of translational termination." [] +synonym: "activation of translational termination" NARROW [] +synonym: "stimulation of translational termination" NARROW [] +synonym: "up regulation of translational termination" EXACT [] +synonym: "up-regulation of translational termination" EXACT [] +synonym: "upregulation of translational termination" EXACT [] +is_a: GO:0006449 ! regulation of translational termination +is_a: GO:0043243 ! positive regulation of protein complex disassembly +is_a: GO:0045727 ! positive regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006415 ! positively regulates translational termination +relationship: RO:0002213 GO:0006415 ! positively regulates translational termination + [Term] id: GO:0045906 name: negative regulation of vasoconstriction @@ -19272,6 +20418,35 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006366 ! positively regulates transcription by RNA polymerase II relationship: RO:0002213 GO:0006366 ! positively regulates transcription by RNA polymerase II +[Term] +id: GO:0045947 +name: negative regulation of translational initiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation." [] +synonym: "down regulation of translational initiation" EXACT [] +synonym: "down-regulation of translational initiation" EXACT [] +synonym: "downregulation of translational initiation" EXACT [] +synonym: "inhibition of translational initiation" NARROW [] +is_a: GO:0006446 ! regulation of translational initiation +is_a: GO:0017148 ! negative regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006413 ! negatively regulates translational initiation +relationship: RO:0002212 GO:0006413 ! negatively regulates translational initiation + +[Term] +id: GO:0045948 +name: positive regulation of translational initiation +def: "Any process that activates or increases the frequency, rate or extent of translational initiation." [] +synonym: "activation of translational initiation" NARROW [] +synonym: "stimulation of translational initiation" NARROW [] +synonym: "up regulation of translational initiation" EXACT [] +synonym: "up-regulation of translational initiation" EXACT [] +synonym: "upregulation of translational initiation" EXACT [] +is_a: GO:0006446 ! regulation of translational initiation +is_a: GO:0045727 ! positive regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006413 ! positively regulates translational initiation +relationship: RO:0002213 GO:0006413 ! positively regulates translational initiation + [Term] id: GO:0045980 name: negative regulation of nucleotide metabolic process @@ -19565,6 +20740,54 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0019395 ! negatively regulates fatty acid oxidation relationship: RO:0002212 GO:0019395 ! negatively regulates fatty acid oxidation +[Term] +id: GO:0046323 +name: glucose import +def: "The directed movement of the hexose monosaccharide glucose into a cell or organelle." [] +synonym: "glucose uptake" EXACT [] +is_a: GO:1904659 ! glucose transmembrane transport + +[Term] +id: GO:0046324 +name: regulation of glucose import +def: "Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle." [] +synonym: "regulation of glucose uptake" EXACT [] +is_a: GO:0010827 ! regulation of glucose transmembrane transport +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0046323 ! regulates glucose import +relationship: RO:0002211 GO:0046323 ! regulates glucose import + +[Term] +id: GO:0046325 +name: negative regulation of glucose import +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle." [] +synonym: "down regulation of glucose import" EXACT [] +synonym: "down-regulation of glucose import" EXACT [] +synonym: "downregulation of glucose import" EXACT [] +synonym: "inhibition of glucose import" NARROW [] +synonym: "negative regulation of glucose uptake" EXACT [] +is_a: GO:0010829 ! negative regulation of glucose transmembrane transport +is_a: GO:0046324 ! regulation of glucose import +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0046323 ! negatively regulates glucose import +relationship: RO:0002212 GO:0046323 ! negatively regulates glucose import + +[Term] +id: GO:0046326 +name: positive regulation of glucose import +def: "Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle." [] +synonym: "activation of glucose import" NARROW [] +synonym: "positive regulation of glucose uptake" EXACT [] +synonym: "stimulation of glucose import" NARROW [] +synonym: "up regulation of glucose import" EXACT [] +synonym: "up-regulation of glucose import" EXACT [] +synonym: "upregulation of glucose import" EXACT [] +is_a: GO:0010828 ! positive regulation of glucose transmembrane transport +is_a: GO:0046324 ! regulation of glucose import +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0046323 ! positively regulates glucose import +relationship: RO:0002213 GO:0046323 ! positively regulates glucose import + [Term] id: GO:0046364 name: monosaccharide biosynthetic process @@ -20182,6 +21405,47 @@ is_a: GO:0022412 ! cellular process involved in reproduction in multicellular or is_a: GO:0048469 ! cell maturation relationship: BFO:0000050 GO:0007286 ! part of spermatid development +[Term] +id: GO:0048259 +name: regulation of receptor-mediated endocytosis +def: "Any process that modulates the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport." [] +synonym: "regulation of receptor mediated endocytosis" EXACT [] +is_a: GO:0030100 ! regulation of endocytosis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006898 ! regulates receptor-mediated endocytosis +relationship: RO:0002211 GO:0006898 ! regulates receptor-mediated endocytosis + +[Term] +id: GO:0048260 +name: positive regulation of receptor-mediated endocytosis +def: "Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport." [] +synonym: "activation of receptor mediated endocytosis" NARROW [] +synonym: "positive regulation of receptor mediated endocytosis" EXACT [] +synonym: "stimulation of receptor mediated endocytosis" NARROW [] +synonym: "up regulation of receptor mediated endocytosis" EXACT [] +synonym: "up-regulation of receptor mediated endocytosis" EXACT [] +synonym: "upregulation of receptor mediated endocytosis" EXACT [] +is_a: GO:0045807 ! positive regulation of endocytosis +is_a: GO:0048259 ! regulation of receptor-mediated endocytosis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006898 ! positively regulates receptor-mediated endocytosis +relationship: RO:0002213 GO:0006898 ! positively regulates receptor-mediated endocytosis + +[Term] +id: GO:0048261 +name: negative regulation of receptor-mediated endocytosis +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport." [] +synonym: "down regulation of receptor mediated endocytosis" EXACT [] +synonym: "down-regulation of receptor mediated endocytosis" EXACT [] +synonym: "downregulation of receptor mediated endocytosis" EXACT [] +synonym: "inhibition of receptor mediated endocytosis" NARROW [] +synonym: "negative regulation of receptor mediated endocytosis" EXACT [] +is_a: GO:0045806 ! negative regulation of endocytosis +is_a: GO:0048259 ! regulation of receptor-mediated endocytosis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006898 ! negatively regulates receptor-mediated endocytosis +relationship: RO:0002212 GO:0006898 ! negatively regulates receptor-mediated endocytosis + [Term] id: GO:0048285 name: organelle fission @@ -20628,6 +21892,22 @@ name: chemical homeostasis def: "Any biological process involved in the maintenance of an internal steady state of a chemical." [] is_a: GO:0042592 ! homeostatic process +[Term] +id: GO:0050308 +name: sugar-phosphatase activity +def: "Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate." [] +synonym: "sugar-phosphate phosphatase activity" EXACT [] +synonym: "sugar-phosphate phosphohydrolase activity" EXACT [] +is_a: GO:0019203 ! carbohydrate phosphatase activity + +[Term] +id: GO:0050309 +name: sugar-terminal-phosphatase activity +def: "Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate." [] +synonym: "sugar-omega-phosphate phosphohydrolase activity" EXACT [] +synonym: "xylitol-5-phosphatase activity" NARROW [] +is_a: GO:0050308 ! sugar-phosphatase activity + [Term] id: GO:0050432 name: catecholamine secretion @@ -22959,6 +24239,47 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0051458 ! positively regulates corticotropin secretion relationship: RO:0002213 GO:0051458 ! positively regulates corticotropin secretion +[Term] +id: GO:0051462 +name: regulation of cortisol secretion +def: "Any process that modulates the frequency, rate or extent of the regulated release of cortisol from a cell." [] +is_a: GO:2000849 ! regulation of glucocorticoid secretion +is_a: GO:2001023 ! regulation of response to drug +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0043400 ! regulates cortisol secretion +relationship: RO:0002211 GO:0043400 ! regulates cortisol secretion + +[Term] +id: GO:0051463 +name: negative regulation of cortisol secretion +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of cortisol from a cell." [] +synonym: "down regulation of cortisol secretion" EXACT [] +synonym: "down-regulation of cortisol secretion" EXACT [] +synonym: "downregulation of cortisol secretion" EXACT [] +synonym: "inhibition of cortisol secretion" NARROW [] +is_a: GO:0051462 ! regulation of cortisol secretion +is_a: GO:2000850 ! negative regulation of glucocorticoid secretion +is_a: GO:2001024 ! negative regulation of response to drug +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0043400 ! negatively regulates cortisol secretion +relationship: RO:0002212 GO:0043400 ! negatively regulates cortisol secretion + +[Term] +id: GO:0051464 +name: positive regulation of cortisol secretion +def: "Any process that activates or increases the frequency, rate or extent of the regulated release of cortisol from a cell." [] +synonym: "activation of cortisol secretion" NARROW [] +synonym: "stimulation of cortisol secretion" NARROW [] +synonym: "up regulation of cortisol secretion" EXACT [] +synonym: "up-regulation of cortisol secretion" EXACT [] +synonym: "upregulation of cortisol secretion" EXACT [] +is_a: GO:0051462 ! regulation of cortisol secretion +is_a: GO:2000851 ! positive regulation of glucocorticoid secretion +is_a: GO:2001025 ! positive regulation of response to drug +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0043400 ! positively regulates cortisol secretion +relationship: RO:0002213 GO:0043400 ! positively regulates cortisol secretion + [Term] id: GO:0051493 name: regulation of cytoskeleton organization @@ -24526,6 +25847,31 @@ name: muscle structure development def: "The progression of a muscle structure over time, from its formation to its mature state. Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms." [] is_a: GO:0048856 ! anatomical structure development +[Term] +id: GO:0061178 +name: regulation of insulin secretion involved in cellular response to glucose stimulus +def: "Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose." [] +synonym: "regulation of insulin secretion in response to glucose" EXACT [] +is_a: GO:0048583 ! regulation of response to stimulus +is_a: GO:0050796 ! regulation of insulin secretion +is_a: GO:0060341 ! regulation of cellular localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0035773 ! regulates insulin secretion involved in cellular response to glucose stimulus +relationship: RO:0002211 GO:0035773 ! regulates insulin secretion involved in cellular response to glucose stimulus + +[Term] +id: GO:0061179 +name: negative regulation of insulin secretion involved in cellular response to glucose stimulus +def: "Any process that decreases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose." [] +synonym: "negative regulation of insulin secretion in response to glucose" RELATED [] +synonym: "negative regulation of insulin secretion involved in cellular response to glucose" EXACT [] +is_a: GO:0046676 ! negative regulation of insulin secretion +is_a: GO:0048585 ! negative regulation of response to stimulus +is_a: GO:0061178 ! regulation of insulin secretion involved in cellular response to glucose stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0035773 ! negatively regulates insulin secretion involved in cellular response to glucose stimulus +relationship: RO:0002212 GO:0035773 ! negatively regulates insulin secretion involved in cellular response to glucose stimulus + [Term] id: GO:0061307 name: cardiac neural crest cell differentiation involved in heart development @@ -24583,6 +25929,12 @@ name: protein localization to cilium def: "A process in which a protein is transported to, or maintained in, a location within a cilium." [] is_a: GO:0033365 ! protein localization to organelle +[Term] +id: GO:0061547 +name: glycogen synthase activity, transferring glucose-1-phosphate +def: "Catalysis of the reaction: UDP-glucose + (1,4)-alpha-D-glucosyl(n) = UMP + (1,4)-alpha-D-glucosyl(n)-glucose-1-phosphate." [] +is_a: GO:0016772 ! transferase activity, transferring phosphorus-containing groups + [Term] id: GO:0061615 name: glycolytic process through fructose-6-phosphate @@ -24645,6 +25997,18 @@ def: "A process that coontributes to the second meiotic division. The second mei synonym: "second meiotic division" EXACT [] is_a: GO:1903046 ! meiotic cell cycle process +[Term] +id: GO:0065003 +name: protein-containing complex assembly +def: "The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex." [] +synonym: "chaperone activity" RELATED [] +synonym: "macromolecular complex assembly" RELATED [] +synonym: "macromolecule complex assembly" RELATED [] +synonym: "protein complex assembly" RELATED [] +synonym: "protein complex formation" RELATED [] +is_a: GO:0022607 ! cellular component assembly +is_a: GO:0043933 ! protein-containing complex subunit organization + [Term] id: GO:0065007 name: biological regulation @@ -24749,6 +26113,112 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0070091 ! positively regulates glucagon secretion relationship: RO:0002213 GO:0070091 ! positively regulates glucagon secretion +[Term] +id: GO:0070124 +name: mitochondrial translational initiation +def: "The process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA." [] +synonym: "mitochondrial translation initiation" EXACT [] +is_a: GO:0006413 ! translational initiation +intersection_of: GO:0006413 ! translational initiation +intersection_of: BFO:0000066 GO:0005739 ! occurs in mitochondrion +relationship: BFO:0000050 GO:0032543 ! part of mitochondrial translation + +[Term] +id: GO:0070125 +name: mitochondrial translational elongation +def: "The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in a mitochondrion." [] +synonym: "mitochondrial translation elongation" EXACT [] +is_a: GO:0006414 ! translational elongation +intersection_of: GO:0006414 ! translational elongation +intersection_of: BFO:0000066 GO:0005739 ! occurs in mitochondrion +relationship: BFO:0000050 GO:0032543 ! part of mitochondrial translation + +[Term] +id: GO:0070126 +name: mitochondrial translational termination +def: "The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa)." [] +synonym: "mitochondrial translation termination" EXACT [] +is_a: GO:0006415 ! translational termination +intersection_of: GO:0006415 ! translational termination +intersection_of: BFO:0000066 GO:0005739 ! occurs in mitochondrion +relationship: BFO:0000050 GO:0032543 ! part of mitochondrial translation + +[Term] +id: GO:0070129 +name: regulation of mitochondrial translation +def: "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion." [] +synonym: "regulation of mitochondrial protein anabolism" EXACT [] +synonym: "regulation of mitochondrial protein biosynthesis" EXACT [] +synonym: "regulation of mitochondrial protein formation" EXACT [] +synonym: "regulation of mitochondrial protein synthesis" EXACT [] +is_a: GO:0006417 ! regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0032543 ! regulates mitochondrial translation +relationship: RO:0002211 GO:0032543 ! regulates mitochondrial translation + +[Term] +id: GO:0070130 +name: negative regulation of mitochondrial translation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion." [] +synonym: "negative regulation of mitochondrial protein anabolism" EXACT [] +synonym: "negative regulation of mitochondrial protein biosynthesis" EXACT [] +synonym: "negative regulation of mitochondrial protein formation" EXACT [] +synonym: "negative regulation of mitochondrial protein synthesis" EXACT [] +is_a: GO:0017148 ! negative regulation of translation +is_a: GO:0070129 ! regulation of mitochondrial translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0032543 ! negatively regulates mitochondrial translation +relationship: RO:0002212 GO:0032543 ! negatively regulates mitochondrial translation + +[Term] +id: GO:0070131 +name: positive regulation of mitochondrial translation +def: "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion." [] +synonym: "positive regulation of mitochondrial protein anabolism" EXACT [] +synonym: "positive regulation of mitochondrial protein biosynthesis" EXACT [] +synonym: "positive regulation of mitochondrial protein formation" EXACT [] +synonym: "positive regulation of mitochondrial protein synthesis" EXACT [] +is_a: GO:0045727 ! positive regulation of translation +is_a: GO:0070129 ! regulation of mitochondrial translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0032543 ! positively regulates mitochondrial translation +relationship: RO:0002213 GO:0032543 ! positively regulates mitochondrial translation + +[Term] +id: GO:0070132 +name: regulation of mitochondrial translational initiation +def: "Any process that modulates the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion." [] +synonym: "regulation of mitochondrial translation initiation" EXACT [] +is_a: GO:0006446 ! regulation of translational initiation +is_a: GO:0070129 ! regulation of mitochondrial translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0070124 ! regulates mitochondrial translational initiation +relationship: RO:0002211 GO:0070124 ! regulates mitochondrial translational initiation + +[Term] +id: GO:0070133 +name: negative regulation of mitochondrial translational initiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion." [] +synonym: "negative regulation of mitochondrial translation initiation" EXACT [] +is_a: GO:0045947 ! negative regulation of translational initiation +is_a: GO:0070130 ! negative regulation of mitochondrial translation +is_a: GO:0070132 ! regulation of mitochondrial translational initiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0070124 ! negatively regulates mitochondrial translational initiation +relationship: RO:0002212 GO:0070124 ! negatively regulates mitochondrial translational initiation + +[Term] +id: GO:0070134 +name: positive regulation of mitochondrial translational initiation +def: "Any process that activates or increases the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion." [] +synonym: "positive regulation of mitochondrial translation initiation" EXACT [] +is_a: GO:0045948 ! positive regulation of translational initiation +is_a: GO:0070131 ! positive regulation of mitochondrial translation +is_a: GO:0070132 ! regulation of mitochondrial translational initiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0070124 ! positively regulates mitochondrial translational initiation +relationship: RO:0002213 GO:0070124 ! positively regulates mitochondrial translational initiation + [Term] id: GO:0070161 name: anchoring junction @@ -24967,6 +26437,15 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0016485 ! regulates protein processing relationship: RO:0002211 GO:0016485 ! regulates protein processing +[Term] +id: GO:0070626 +name: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity +def: "Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide." [] +synonym: "adenylosuccinase activity" BROAD [] +synonym: "adenylosuccinate lyase activity" BROAD [] +synonym: "succino AMP-lyase activity" BROAD [] +is_a: GO:0016842 ! amidine-lyase activity + [Term] id: GO:0070640 name: vitamin D3 metabolic process @@ -25228,6 +26707,36 @@ def: "Any process that results in a change in state or activity of a cell (in te is_a: GO:0010033 ! response to organic substance is_a: GO:0070887 ! cellular response to chemical stimulus +[Term] +id: GO:0071322 +name: cellular response to carbohydrate stimulus +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus." [] +is_a: GO:0009743 ! response to carbohydrate +is_a: GO:0071310 ! cellular response to organic substance +is_a: GO:1901701 ! cellular response to oxygen-containing compound + +[Term] +id: GO:0071326 +name: cellular response to monosaccharide stimulus +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus." [] +is_a: GO:0034284 ! response to monosaccharide +is_a: GO:0071322 ! cellular response to carbohydrate stimulus + +[Term] +id: GO:0071331 +name: cellular response to hexose stimulus +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus." [] +is_a: GO:0009746 ! response to hexose +is_a: GO:0071326 ! cellular response to monosaccharide stimulus + +[Term] +id: GO:0071333 +name: cellular response to glucose stimulus +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus." [] +is_a: GO:0001678 ! cellular glucose homeostasis +is_a: GO:0009749 ! response to glucose +is_a: GO:0071331 ! cellular response to hexose stimulus + [Term] id: GO:0071345 name: cellular response to cytokine stimulus @@ -25235,6 +26744,15 @@ def: "Any process that results in a change in state or activity of a cell (in te is_a: GO:0034097 ! response to cytokine is_a: GO:0071310 ! cellular response to organic substance +[Term] +id: GO:0071375 +name: cellular response to peptide hormone stimulus +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals." [] +synonym: "cellular response to polypeptide hormone stimulus" EXACT [] +is_a: GO:0032870 ! cellular response to hormone stimulus +is_a: GO:0043434 ! response to peptide hormone +is_a: GO:1901653 ! cellular response to peptide + [Term] id: GO:0071383 name: cellular response to steroid hormone stimulus @@ -25259,6 +26777,16 @@ synonym: "cellular response to organic cyclic substance" EXACT [] is_a: GO:0014070 ! response to organic cyclic compound is_a: GO:0071310 ! cellular response to organic substance +[Term] +id: GO:0071417 +name: cellular response to organonitrogen compound +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond." [] +synonym: "cellular response to organic nitrogen" EXACT [] +is_a: GO:0010243 ! response to organonitrogen compound +is_a: GO:0071310 ! cellular response to organic substance +is_a: GO:0071495 ! cellular response to endogenous stimulus +is_a: GO:1901699 ! cellular response to nitrogen compound + [Term] id: GO:0071478 name: cellular response to radiation @@ -25415,6 +26943,45 @@ name: IgM immunoglobulin complex def: "A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph." [] is_a: GO:0019814 ! immunoglobulin complex +[Term] +id: GO:0071825 +name: protein-lipid complex subunit organization +def: "Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein-lipid complex." [] +synonym: "protein-lipid complex subunit organisation" EXACT [] +is_a: GO:0043933 ! protein-containing complex subunit organization + +[Term] +id: GO:0071826 +name: ribonucleoprotein complex subunit organization +def: "Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex." [] +synonym: "protein-RNA complex subunit organization" EXACT [] +synonym: "ribonucleoprotein complex subunit organisation" EXACT [] +synonym: "RNA-protein complex subunit organization" EXACT [] +is_a: GO:0043933 ! protein-containing complex subunit organization + +[Term] +id: GO:0071827 +name: plasma lipoprotein particle organization +def: "A protein-lipid complex subunit organization process that results in the formation, disassembly, or alteration of a plasma lipoprotein particle. A plasma lipoprotein particle is a spherical particle with a hydrophobic core of triglycerides and/or cholesterol esters, surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins." [] +synonym: "plasma lipoprotein particle organisation" EXACT [] +is_a: GO:0032501 ! multicellular organismal process +is_a: GO:0043062 ! extracellular structure organization +is_a: GO:0071825 ! protein-lipid complex subunit organization + +[Term] +id: GO:0071829 +name: plasma lipoprotein particle disassembly +def: "The disaggregation of a plasma lipoprotein particle into its constituent components." [] +is_a: GO:0032987 ! protein-lipid complex disassembly +is_a: GO:0071827 ! plasma lipoprotein particle organization +relationship: BFO:0000050 GO:0097006 ! part of regulation of plasma lipoprotein particle levels + +[Term] +id: GO:0071830 +name: triglyceride-rich lipoprotein particle clearance +def: "The process in which a triglyceride-rich lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded." [] +is_a: GO:0034381 ! plasma lipoprotein particle clearance + [Term] id: GO:0071840 name: cellular component organization or biogenesis @@ -25424,6 +26991,35 @@ synonym: "cellular component organisation or biogenesis at cellular level" EXACT synonym: "cellular component organization or biogenesis at cellular level" EXACT [] is_a: GO:0008150 ! biological_process +[Term] +id: GO:0071900 +name: regulation of protein serine/threonine kinase activity +def: "Any process that modulates the rate, frequency, or extent of protein serine/threonine kinase activity." [] +is_a: GO:0045859 ! regulation of protein kinase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0004674 ! regulates protein serine/threonine kinase activity +relationship: RO:0002211 GO:0004674 ! regulates protein serine/threonine kinase activity + +[Term] +id: GO:0071901 +name: negative regulation of protein serine/threonine kinase activity +def: "Any process that decreases the rate, frequency, or extent of protein serine/threonine kinase activity." [] +is_a: GO:0006469 ! negative regulation of protein kinase activity +is_a: GO:0071900 ! regulation of protein serine/threonine kinase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0004674 ! negatively regulates protein serine/threonine kinase activity +relationship: RO:0002212 GO:0004674 ! negatively regulates protein serine/threonine kinase activity + +[Term] +id: GO:0071902 +name: positive regulation of protein serine/threonine kinase activity +def: "Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity." [] +is_a: GO:0045860 ! positive regulation of protein kinase activity +is_a: GO:0071900 ! regulation of protein serine/threonine kinase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0004674 ! positively regulates protein serine/threonine kinase activity +relationship: RO:0002213 GO:0004674 ! positively regulates protein serine/threonine kinase activity + [Term] id: GO:0071941 name: nitrogen cycle metabolic process @@ -26157,6 +27753,13 @@ def: "The chemical reactions and pathways resulting in the breakdown of a storag is_a: GO:0000272 ! polysaccharide catabolic process is_a: GO:0061622 ! glycolytic process through glucose-1-phosphate +[Term] +id: GO:0097006 +name: regulation of plasma lipoprotein particle levels +def: "Any process involved in the maintenance of internal levels of plasma lipoprotein particles within an organism." [] +synonym: "plasma lipoprotein particle homeostasis" NARROW [] +is_a: GO:0050789 ! regulation of biological process + [Term] id: GO:0097014 name: ciliary plasm @@ -26725,6 +28328,16 @@ intersection_of: GO:0016192 ! vesicle-mediated transport intersection_of: BFO:0000066 GO:0045202 ! occurs in synapse relationship: BFO:0000066 GO:0045202 ! occurs in synapse +[Term] +id: GO:0099004 +name: calmodulin dependent kinase signaling pathway +def: "Any signal transduction pathway involving calmodulin dependent kinase activity." [] +synonym: "CAMK signaling pathway" EXACT [] +is_a: GO:0007165 ! signal transduction +intersection_of: GO:0007165 ! signal transduction +intersection_of: BFO:0000051 GO:0004683 ! has_part calmodulin-dependent protein kinase activity +relationship: BFO:0000051 GO:0004683 ! has_part calmodulin-dependent protein kinase activity + [Term] id: GO:0099023 name: tethering complex @@ -26900,6 +28513,17 @@ name: trans-synaptic signaling def: "Cell-cell signaling in either direction across the synaptic cleft." [] is_a: GO:0099536 ! synaptic signaling +[Term] +id: GO:0099547 +name: regulation of translation at synapse, modulating synaptic transmission +def: "Any process that modulates synaptic transmission by regulating translation occurring at the synapse." [] +is_a: GO:0006417 ! regulation of translation +is_a: GO:0050804 ! modulation of chemical synaptic transmission +intersection_of: GO:0006417 ! regulation of translation +intersection_of: BFO:0000066 GO:0045202 ! occurs in synapse +intersection_of: RO:0002211 GO:0007268 ! regulates chemical synaptic transmission +relationship: BFO:0000066 GO:0045202 ! occurs in synapse + [Term] id: GO:0099550 name: trans-synaptic signaling, modulating synaptic transmission @@ -26930,6 +28554,26 @@ is_a: GO:0044444 ! cytoplasmic part intersection_of: GO:0005737 ! cytoplasm intersection_of: BFO:0000050 GO:0005737 ! part of cytoplasm +[Term] +id: GO:0099577 +name: regulation of translation at presynapse, modulating synaptic transmission +def: "Any process that modulates synaptic transmission by regulating translation occurring at the presynapse." [] +is_a: GO:0099171 ! presynaptic modulation of chemical synaptic transmission +is_a: GO:0099547 ! regulation of translation at synapse, modulating synaptic transmission +intersection_of: GO:0006417 ! regulation of translation +intersection_of: BFO:0000066 GO:0098793 ! occurs in presynapse +intersection_of: RO:0002211 GO:0007268 ! regulates chemical synaptic transmission + +[Term] +id: GO:0099578 +name: regulation of translation at postsynapse, modulating synaptic transmission +def: "Any process that modulates synaptic transmission by regulating translation occurring at the postsynapse." [] +is_a: GO:0099170 ! postsynaptic modulation of chemical synaptic transmission +is_a: GO:0099547 ! regulation of translation at synapse, modulating synaptic transmission +intersection_of: GO:0006417 ! regulation of translation +intersection_of: BFO:0000066 GO:0098794 ! occurs in postsynapse +intersection_of: RO:0002211 GO:0007268 ! regulates chemical synaptic transmission + [Term] id: GO:0099601 name: regulation of neurotransmitter receptor activity @@ -26958,6 +28602,15 @@ is_a: GO:0099240 ! intrinsic component of synaptic membrane intersection_of: GO:0016021 ! integral component of membrane intersection_of: BFO:0000050 GO:0097060 ! part of synaptic membrane +[Term] +id: GO:0100002 +name: negative regulation of protein kinase activity by protein phosphorylation +def: "Any protein phosphorylation process that negatively_regulates protein kinase activity" [] +is_a: GO:0006468 ! protein phosphorylation +is_a: GO:0006469 ! negative regulation of protein kinase activity +intersection_of: GO:0006468 ! protein phosphorylation +intersection_of: RO:0002212 GO:0004672 ! negatively regulates protein kinase activity + [Term] id: GO:0100017 name: negative regulation of cell-cell adhesion by transcription from RNA polymerase II promoter @@ -26967,6 +28620,15 @@ is_a: GO:0022408 ! negative regulation of cell-cell adhesion intersection_of: GO:0006366 ! transcription by RNA polymerase II intersection_of: RO:0002212 GO:0098609 ! negatively regulates cell-cell adhesion +[Term] +id: GO:0100018 +name: regulation of glucose import by transcription from RNA polymerase II promoter +def: "Any transcription from RNA polymerase II promoter process that regulates glucose import" [] +is_a: GO:0046324 ! regulation of glucose import +is_a: GO:0100020 ! regulation of transport by transcription from RNA polymerase II promoter +intersection_of: GO:0006366 ! transcription by RNA polymerase II +intersection_of: RO:0002211 GO:0046323 ! regulates glucose import + [Term] id: GO:0100020 name: regulation of transport by transcription from RNA polymerase II promoter @@ -27414,6 +29076,46 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0007274 ! positively regulates neuromuscular synaptic transmission relationship: RO:0002213 GO:0007274 ! positively regulates neuromuscular synaptic transmission +[Term] +id: GO:1900076 +name: regulation of cellular response to insulin stimulus +def: "Any process that modulates the frequency, rate or extent of cellular response to insulin stimulus." [] +is_a: GO:0048583 ! regulation of response to stimulus +is_a: GO:0050794 ! regulation of cellular process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0032869 ! regulates cellular response to insulin stimulus +relationship: RO:0002211 GO:0032869 ! regulates cellular response to insulin stimulus + +[Term] +id: GO:1900077 +name: negative regulation of cellular response to insulin stimulus +def: "Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to insulin stimulus." [] +synonym: "down regulation of cellular response to insulin stimulus" EXACT [] +synonym: "down-regulation of cellular response to insulin stimulus" EXACT [] +synonym: "downregulation of cellular response to insulin stimulus" EXACT [] +synonym: "inhibition of cellular response to insulin stimulus" NARROW [] +is_a: GO:0048523 ! negative regulation of cellular process +is_a: GO:0048585 ! negative regulation of response to stimulus +is_a: GO:1900076 ! regulation of cellular response to insulin stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0032869 ! negatively regulates cellular response to insulin stimulus +relationship: RO:0002212 GO:0032869 ! negatively regulates cellular response to insulin stimulus + +[Term] +id: GO:1900078 +name: positive regulation of cellular response to insulin stimulus +def: "Any process that activates or increases the frequency, rate or extent of cellular response to insulin stimulus." [] +synonym: "activation of cellular response to insulin stimulus" NARROW [] +synonym: "up regulation of cellular response to insulin stimulus" EXACT [] +synonym: "up-regulation of cellular response to insulin stimulus" EXACT [] +synonym: "upregulation of cellular response to insulin stimulus" EXACT [] +is_a: GO:0048522 ! positive regulation of cellular process +is_a: GO:0048584 ! positive regulation of response to stimulus +is_a: GO:1900076 ! regulation of cellular response to insulin stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0032869 ! positively regulates cellular response to insulin stimulus +relationship: RO:0002213 GO:0032869 ! positively regulates cellular response to insulin stimulus + [Term] id: GO:1900115 name: extracellular regulation of signal transduction @@ -27554,6 +29256,46 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0008289 ! positively regulates lipid binding relationship: RO:0002213 GO:0008289 ! positively regulates lipid binding +[Term] +id: GO:1900247 +name: regulation of cytoplasmic translational elongation +def: "Any process that modulates the frequency, rate or extent of cytoplasmic translational elongation." [] +is_a: GO:0006448 ! regulation of translational elongation +is_a: GO:2000765 ! regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002182 ! regulates cytoplasmic translational elongation +relationship: RO:0002211 GO:0002182 ! regulates cytoplasmic translational elongation + +[Term] +id: GO:1900248 +name: negative regulation of cytoplasmic translational elongation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational elongation." [] +synonym: "down regulation of cytoplasmic translational elongation" EXACT [] +synonym: "down-regulation of cytoplasmic translational elongation" EXACT [] +synonym: "downregulation of cytoplasmic translational elongation" EXACT [] +synonym: "inhibition of cytoplasmic translational elongation" NARROW [] +is_a: GO:0045900 ! negative regulation of translational elongation +is_a: GO:1900247 ! regulation of cytoplasmic translational elongation +is_a: GO:2000766 ! negative regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002182 ! negatively regulates cytoplasmic translational elongation +relationship: RO:0002212 GO:0002182 ! negatively regulates cytoplasmic translational elongation + +[Term] +id: GO:1900249 +name: positive regulation of cytoplasmic translational elongation +def: "Any process that activates or increases the frequency, rate or extent of cytoplasmic translational elongation." [] +synonym: "activation of cytoplasmic translational elongation" NARROW [] +synonym: "up regulation of cytoplasmic translational elongation" EXACT [] +synonym: "up-regulation of cytoplasmic translational elongation" EXACT [] +synonym: "upregulation of cytoplasmic translational elongation" EXACT [] +is_a: GO:0045901 ! positive regulation of translational elongation +is_a: GO:1900247 ! regulation of cytoplasmic translational elongation +is_a: GO:2000767 ! positive regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002182 ! positively regulates cytoplasmic translational elongation +relationship: RO:0002213 GO:0002182 ! positively regulates cytoplasmic translational elongation + [Term] id: GO:1900371 name: regulation of purine nucleotide biosynthetic process @@ -27647,6 +29389,17 @@ is_a: GO:0022408 ! negative regulation of cell-cell adhesion intersection_of: GO:0000122 ! negative regulation of transcription by RNA polymerase II intersection_of: RO:0002212 GO:0098609 ! negatively regulates cell-cell adhesion +[Term] +id: GO:1900389 +name: regulation of glucose import by regulation of transcription from RNA polymerase II promoter +def: "A regulation of transcription from RNA polymerase II promoter that results in regulation of glucose import." [] +synonym: "regulation of glucose uptake by regulation of transcription from RNA polymerase II promoter" EXACT [] +is_a: GO:0006357 ! regulation of transcription by RNA polymerase II +is_a: GO:0046324 ! regulation of glucose import +intersection_of: GO:0050789 ! regulation of biological process +intersection_of: RO:0002211 GO:0100018 ! regulates regulation of glucose import by transcription from RNA polymerase II promoter +relationship: RO:0002211 GO:0100018 ! regulates regulation of glucose import by transcription from RNA polymerase II promoter + [Term] id: GO:1900392 name: regulation of transport by negative regulation of transcription from RNA polymerase II promoter @@ -28040,6 +29793,57 @@ intersection_of: GO:0010467 ! gene expression intersection_of: BFO:0000050 GO:0030198 ! part of extracellular matrix organization relationship: BFO:0000050 GO:0030198 ! part of extracellular matrix organization +[Term] +id: GO:1901190 +name: regulation of formation of translation initiation ternary complex +def: "Any process that modulates the frequency, rate or extent of formation of translation initiation ternary complex." [] +synonym: "regulation of translation initiation ternary complex assembly" EXACT [] +is_a: GO:0006446 ! regulation of translational initiation +is_a: GO:0043254 ! regulation of protein complex assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0001677 ! regulates formation of translation initiation ternary complex +relationship: RO:0002211 GO:0001677 ! regulates formation of translation initiation ternary complex + +[Term] +id: GO:1901191 +name: negative regulation of formation of translation initiation ternary complex +def: "Any process that stops, prevents or reduces the frequency, rate or extent of formation of translation initiation ternary complex." [] +synonym: "down regulation of formation of translation initiation ternary complex" EXACT [] +synonym: "down regulation of translation initiation ternary complex assembly" EXACT [] +synonym: "down-regulation of formation of translation initiation ternary complex" EXACT [] +synonym: "down-regulation of translation initiation ternary complex assembly" EXACT [] +synonym: "downregulation of formation of translation initiation ternary complex" EXACT [] +synonym: "downregulation of translation initiation ternary complex assembly" EXACT [] +synonym: "inhibition of formation of translation initiation ternary complex" NARROW [] +synonym: "inhibition of translation initiation ternary complex assembly" EXACT [] +synonym: "negative regulation of translation initiation ternary complex assembly" EXACT [] +is_a: GO:0031333 ! negative regulation of protein complex assembly +is_a: GO:0045947 ! negative regulation of translational initiation +is_a: GO:1901190 ! regulation of formation of translation initiation ternary complex +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0001677 ! negatively regulates formation of translation initiation ternary complex +relationship: RO:0002212 GO:0001677 ! negatively regulates formation of translation initiation ternary complex + +[Term] +id: GO:1901192 +name: positive regulation of formation of translation initiation ternary complex +def: "Any process that activates or increases the frequency, rate or extent of formation of translation initiation ternary complex." [] +synonym: "activation of formation of translation initiation ternary complex" NARROW [] +synonym: "activation of translation initiation ternary complex assembly" EXACT [] +synonym: "positive regulation of translation initiation ternary complex assembly" EXACT [] +synonym: "up regulation of formation of translation initiation ternary complex" EXACT [] +synonym: "up regulation of translation initiation ternary complex assembly" EXACT [] +synonym: "up-regulation of formation of translation initiation ternary complex" EXACT [] +synonym: "up-regulation of translation initiation ternary complex assembly" EXACT [] +synonym: "upregulation of formation of translation initiation ternary complex" EXACT [] +synonym: "upregulation of translation initiation ternary complex assembly" EXACT [] +is_a: GO:0031334 ! positive regulation of protein complex assembly +is_a: GO:0045948 ! positive regulation of translational initiation +is_a: GO:1901190 ! regulation of formation of translation initiation ternary complex +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0001677 ! positively regulates formation of translation initiation ternary complex +relationship: RO:0002213 GO:0001677 ! positively regulates formation of translation initiation ternary complex + [Term] id: GO:1901213 name: regulation of transcription from RNA polymerase II promoter involved in heart development @@ -28582,6 +30386,21 @@ synonym: "organic hydroxy compound synthesis" EXACT [] is_a: GO:1901576 ! organic substance biosynthetic process is_a: GO:1901615 ! organic hydroxy compound metabolic process +[Term] +id: GO:1901652 +name: response to peptide +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus." [] +is_a: GO:0010243 ! response to organonitrogen compound +is_a: GO:1901700 ! response to oxygen-containing compound + +[Term] +id: GO:1901653 +name: cellular response to peptide +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus." [] +is_a: GO:0071417 ! cellular response to organonitrogen compound +is_a: GO:1901652 ! response to peptide +is_a: GO:1901701 ! cellular response to oxygen-containing compound + [Term] id: GO:1901661 name: quinone metabolic process @@ -28609,6 +30428,21 @@ is_a: GO:0009108 ! coenzyme biosynthetic process is_a: GO:0042181 ! ketone biosynthetic process is_a: GO:1901661 ! quinone metabolic process +[Term] +id: GO:1901698 +name: response to nitrogen compound +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus." [] +synonym: "response to nitrogen molecular entity" EXACT [] +is_a: GO:0042221 ! response to chemical + +[Term] +id: GO:1901699 +name: cellular response to nitrogen compound +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus." [] +synonym: "cellular response to nitrogen molecular entity" EXACT [] +is_a: GO:0070887 ! cellular response to chemical stimulus +is_a: GO:1901698 ! response to nitrogen compound + [Term] id: GO:1901700 name: response to oxygen-containing compound @@ -32109,6 +33943,43 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0004758 ! positively regulates serine C-palmitoyltransferase activity relationship: RO:0002213 GO:0004758 ! positively regulates serine C-palmitoyltransferase activity +[Term] +id: GO:1904226 +name: regulation of glycogen synthase activity, transferring glucose-1-phosphate +def: "Any process that modulates the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate." [] +is_a: GO:0051338 ! regulation of transferase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0061547 ! regulates glycogen synthase activity, transferring glucose-1-phosphate +relationship: RO:0002211 GO:0061547 ! regulates glycogen synthase activity, transferring glucose-1-phosphate + +[Term] +id: GO:1904227 +name: negative regulation of glycogen synthase activity, transferring glucose-1-phosphate +def: "Any process that stops, prevents or reduces the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate." [] +synonym: "down regulation of glycogen synthase activity, transferring glucose-1-phosphate" EXACT [] +synonym: "down-regulation of glycogen synthase activity, transferring glucose-1-phosphate" EXACT [] +synonym: "downregulation of glycogen synthase activity, transferring glucose-1-phosphate" EXACT [] +synonym: "inhibition of glycogen synthase activity, transferring glucose-1-phosphate" NARROW [] +is_a: GO:0051348 ! negative regulation of transferase activity +is_a: GO:1904226 ! regulation of glycogen synthase activity, transferring glucose-1-phosphate +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0061547 ! negatively regulates glycogen synthase activity, transferring glucose-1-phosphate +relationship: RO:0002212 GO:0061547 ! negatively regulates glycogen synthase activity, transferring glucose-1-phosphate + +[Term] +id: GO:1904228 +name: positive regulation of glycogen synthase activity, transferring glucose-1-phosphate +def: "Any process that activates or increases the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate." [] +synonym: "activation of glycogen synthase activity, transferring glucose-1-phosphate" NARROW [] +synonym: "up regulation of glycogen synthase activity, transferring glucose-1-phosphate" EXACT [] +synonym: "up-regulation of glycogen synthase activity, transferring glucose-1-phosphate" EXACT [] +synonym: "upregulation of glycogen synthase activity, transferring glucose-1-phosphate" EXACT [] +is_a: GO:0051347 ! positive regulation of transferase activity +is_a: GO:1904226 ! regulation of glycogen synthase activity, transferring glucose-1-phosphate +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0061547 ! positively regulates glycogen synthase activity, transferring glucose-1-phosphate +relationship: RO:0002213 GO:0061547 ! positively regulates glycogen synthase activity, transferring glucose-1-phosphate + [Term] id: GO:1904251 name: regulation of bile acid metabolic process @@ -32438,6 +34309,46 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0048103 ! positively regulates somatic stem cell division relationship: RO:0002213 GO:0048103 ! positively regulates somatic stem cell division +[Term] +id: GO:1904688 +name: regulation of cytoplasmic translational initiation +def: "Any process that modulates the frequency, rate or extent of cytoplasmic translational initiation." [] +is_a: GO:0006446 ! regulation of translational initiation +is_a: GO:2000765 ! regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002183 ! regulates cytoplasmic translational initiation +relationship: RO:0002211 GO:0002183 ! regulates cytoplasmic translational initiation + +[Term] +id: GO:1904689 +name: negative regulation of cytoplasmic translational initiation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational initiation." [] +synonym: "down regulation of cytoplasmic translational initiation" EXACT [] +synonym: "down-regulation of cytoplasmic translational initiation" EXACT [] +synonym: "downregulation of cytoplasmic translational initiation" EXACT [] +synonym: "inhibition of cytoplasmic translational initiation" NARROW [] +is_a: GO:0045947 ! negative regulation of translational initiation +is_a: GO:1904688 ! regulation of cytoplasmic translational initiation +is_a: GO:2000766 ! negative regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002183 ! negatively regulates cytoplasmic translational initiation +relationship: RO:0002212 GO:0002183 ! negatively regulates cytoplasmic translational initiation + +[Term] +id: GO:1904690 +name: positive regulation of cytoplasmic translational initiation +def: "Any process that activates or increases the frequency, rate or extent of cytoplasmic translational initiation." [] +synonym: "activation of cytoplasmic translational initiation" NARROW [] +synonym: "up regulation of cytoplasmic translational initiation" EXACT [] +synonym: "up-regulation of cytoplasmic translational initiation" EXACT [] +synonym: "upregulation of cytoplasmic translational initiation" EXACT [] +is_a: GO:0045948 ! positive regulation of translational initiation +is_a: GO:1904688 ! regulation of cytoplasmic translational initiation +is_a: GO:2000767 ! positive regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002183 ! positively regulates cytoplasmic translational initiation +relationship: RO:0002213 GO:0002183 ! positively regulates cytoplasmic translational initiation + [Term] id: GO:1904729 name: regulation of intestinal lipid absorption @@ -33048,6 +34959,23 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0004972 ! positively regulates NMDA glutamate receptor activity relationship: RO:0002213 GO:0004972 ! positively regulates NMDA glutamate receptor activity +[Term] +id: GO:1904803 +name: regulation of translation involved in cellular response to UV +def: "Any regulation of translation that is involved in cellular response to UV." [] +synonym: "regulation of protein anabolism involved in cellular response to UV" EXACT [] +synonym: "regulation of protein biosynthesis involved in cellular response to UV" EXACT [] +synonym: "regulation of protein formation involved in cellular response to UV" EXACT [] +synonym: "regulation of protein synthesis involved in cellular response to UV" EXACT [] +synonym: "regulation of translation involved in cellular response to ultraviolet light stimulus" EXACT [] +synonym: "regulation of translation involved in cellular response to ultraviolet radiation stimulus" EXACT [] +synonym: "regulation of translation involved in cellular response to UV light stimulus" EXACT [] +synonym: "regulation of translation involved in cellular response to UV radiation stimulus" EXACT [] +is_a: GO:0006417 ! regulation of translation +intersection_of: GO:0006417 ! regulation of translation +intersection_of: BFO:0000050 GO:0034644 ! part of cellular response to UV +relationship: BFO:0000050 GO:0034644 ! part of cellular response to UV + [Term] id: GO:1904950 name: negative regulation of establishment of protein localization @@ -33139,6 +35067,57 @@ is_a: GO:0046942 ! carboxylic acid transport is_a: GO:0098656 ! anion transmembrane transport is_a: GO:1903825 ! organic acid transmembrane transport +[Term] +id: GO:1905082 +name: regulation of mitochondrial translational elongation +def: "Any process that modulates the frequency, rate or extent of mitochondrial translational elongation." [] +synonym: "regulation of mitochondrial translation elongation" EXACT [] +is_a: GO:0006448 ! regulation of translational elongation +is_a: GO:0070129 ! regulation of mitochondrial translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0070125 ! regulates mitochondrial translational elongation +relationship: RO:0002211 GO:0070125 ! regulates mitochondrial translational elongation + +[Term] +id: GO:1905083 +name: negative regulation of mitochondrial translational elongation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial translational elongation." [] +synonym: "down regulation of mitochondrial translation elongation" EXACT [] +synonym: "down regulation of mitochondrial translational elongation" EXACT [] +synonym: "down-regulation of mitochondrial translation elongation" EXACT [] +synonym: "down-regulation of mitochondrial translational elongation" EXACT [] +synonym: "downregulation of mitochondrial translation elongation" EXACT [] +synonym: "downregulation of mitochondrial translational elongation" EXACT [] +synonym: "inhibition of mitochondrial translation elongation" NARROW [] +synonym: "inhibition of mitochondrial translational elongation" NARROW [] +synonym: "negative regulation of mitochondrial translation elongation" EXACT [] +is_a: GO:0045900 ! negative regulation of translational elongation +is_a: GO:0070130 ! negative regulation of mitochondrial translation +is_a: GO:1905082 ! regulation of mitochondrial translational elongation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0070125 ! negatively regulates mitochondrial translational elongation +relationship: RO:0002212 GO:0070125 ! negatively regulates mitochondrial translational elongation + +[Term] +id: GO:1905084 +name: positive regulation of mitochondrial translational elongation +def: "Any process that activates or increases the frequency, rate or extent of mitochondrial translational elongation." [] +synonym: "activation of mitochondrial translation elongation" NARROW [] +synonym: "activation of mitochondrial translational elongation" NARROW [] +synonym: "positive regulation of mitochondrial translation elongation" EXACT [] +synonym: "up regulation of mitochondrial translation elongation" EXACT [] +synonym: "up regulation of mitochondrial translational elongation" EXACT [] +synonym: "up-regulation of mitochondrial translation elongation" EXACT [] +synonym: "up-regulation of mitochondrial translational elongation" EXACT [] +synonym: "upregulation of mitochondrial translation elongation" EXACT [] +synonym: "upregulation of mitochondrial translational elongation" EXACT [] +is_a: GO:0045901 ! positive regulation of translational elongation +is_a: GO:0070131 ! positive regulation of mitochondrial translation +is_a: GO:1905082 ! regulation of mitochondrial translational elongation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0070125 ! positively regulates mitochondrial translational elongation +relationship: RO:0002213 GO:0070125 ! positively regulates mitochondrial translational elongation + [Term] id: GO:1905114 name: cell surface receptor signaling pathway involved in cell-cell signaling @@ -33834,6 +35813,16 @@ def: "The process in which a solute is transported from one side of a membrane t is_a: GO:0006839 ! mitochondrial transport is_a: GO:0055085 ! transmembrane transport +[Term] +id: GO:1990580 +name: regulation of cytoplasmic translational termination +def: "Any process that modulates the frequency, rate or extent of cytoplasmic translational termination." [] +is_a: GO:0006449 ! regulation of translational termination +is_a: GO:2000765 ! regulation of cytoplasmic translation +intersection_of: GO:0050789 ! regulation of biological process +intersection_of: RO:0002211 GO:0002184 ! regulates cytoplasmic translational termination +relationship: RO:0002211 GO:0002184 ! regulates cytoplasmic translational termination + [Term] id: GO:1990731 name: UV-damage excision repair, DNA incision @@ -34487,6 +36476,35 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0048863 ! positively regulates stem cell differentiation relationship: RO:0002213 GO:0048863 ! positively regulates stem cell differentiation +[Term] +id: GO:2000765 +name: regulation of cytoplasmic translation +def: "Any process that modulates the frequency, rate or extent of cytoplasmic translation." [] +is_a: GO:0006417 ! regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002181 ! regulates cytoplasmic translation +relationship: RO:0002211 GO:0002181 ! regulates cytoplasmic translation + +[Term] +id: GO:2000766 +name: negative regulation of cytoplasmic translation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translation." [] +is_a: GO:0017148 ! negative regulation of translation +is_a: GO:2000765 ! regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002181 ! negatively regulates cytoplasmic translation +relationship: RO:0002212 GO:0002181 ! negatively regulates cytoplasmic translation + +[Term] +id: GO:2000767 +name: positive regulation of cytoplasmic translation +def: "Any process that activates or increases the frequency, rate or extent of cytoplasmic translation." [] +is_a: GO:0045727 ! positive regulation of translation +is_a: GO:2000765 ! regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002181 ! positively regulates cytoplasmic translation +relationship: RO:0002213 GO:0002181 ! positively regulates cytoplasmic translation + [Term] id: GO:2000819 name: regulation of nucleotide-excision repair @@ -34673,6 +36691,35 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0035930 ! positively regulates corticosteroid hormone secretion relationship: RO:0002213 GO:0035930 ! positively regulates corticosteroid hormone secretion +[Term] +id: GO:2000849 +name: regulation of glucocorticoid secretion +def: "Any process that modulates the frequency, rate or extent of glucocorticoid secretion." [] +is_a: GO:2000846 ! regulation of corticosteroid hormone secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0035933 ! regulates glucocorticoid secretion +relationship: RO:0002211 GO:0035933 ! regulates glucocorticoid secretion + +[Term] +id: GO:2000850 +name: negative regulation of glucocorticoid secretion +def: "Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid secretion." [] +is_a: GO:2000847 ! negative regulation of corticosteroid hormone secretion +is_a: GO:2000849 ! regulation of glucocorticoid secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0035933 ! negatively regulates glucocorticoid secretion +relationship: RO:0002212 GO:0035933 ! negatively regulates glucocorticoid secretion + +[Term] +id: GO:2000851 +name: positive regulation of glucocorticoid secretion +def: "Any process that activates or increases the frequency, rate or extent of glucocorticoid secretion." [] +is_a: GO:2000848 ! positive regulation of corticosteroid hormone secretion +is_a: GO:2000849 ! regulation of glucocorticoid secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0035933 ! positively regulates glucocorticoid secretion +relationship: RO:0002213 GO:0035933 ! positively regulates glucocorticoid secretion + [Term] id: GO:2000855 name: regulation of mineralocorticoid secretion @@ -35056,6 +37103,41 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0005261 ! positively regulates cation channel activity relationship: RO:0002213 GO:0005261 ! positively regulates cation channel activity +[Term] +id: GO:2001273 +name: regulation of glucose import in response to insulin stimulus +def: "Any process that modulates the frequency, rate or extent of glucose import in response to insulin stimulus." [] +synonym: "regulation of cellular glucose import in response to insulin stimulus" EXACT [] +is_a: GO:0046324 ! regulation of glucose import +is_a: GO:1900076 ! regulation of cellular response to insulin stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0044381 ! regulates glucose import in response to insulin stimulus +relationship: RO:0002211 GO:0044381 ! regulates glucose import in response to insulin stimulus + +[Term] +id: GO:2001274 +name: negative regulation of glucose import in response to insulin stimulus +def: "Any process that stops, prevents or reduces the frequency, rate or extent of glucose import in response to insulin stimulus." [] +synonym: "negative regulation of cellular glucose import in response to insulin stimulus" EXACT [] +is_a: GO:0046325 ! negative regulation of glucose import +is_a: GO:1900077 ! negative regulation of cellular response to insulin stimulus +is_a: GO:2001273 ! regulation of glucose import in response to insulin stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0044381 ! negatively regulates glucose import in response to insulin stimulus +relationship: RO:0002212 GO:0044381 ! negatively regulates glucose import in response to insulin stimulus + +[Term] +id: GO:2001275 +name: positive regulation of glucose import in response to insulin stimulus +def: "Any process that activates or increases the frequency, rate or extent of glucose import in response to insulin stimulus." [] +synonym: "positive regulation of cellular glucose import in response to insulin stimulus" EXACT [] +is_a: GO:0046326 ! positive regulation of glucose import +is_a: GO:1900078 ! positive regulation of cellular response to insulin stimulus +is_a: GO:2001273 ! regulation of glucose import in response to insulin stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0044381 ! positively regulates glucose import in response to insulin stimulus +relationship: RO:0002213 GO:0044381 ! positively regulates glucose import in response to insulin stimulus + [Typedef] id: BFO:0000050 name: part of diff --git a/imports/go_import.owl b/imports/go_import.owl index f14d6c41ce..a0166d97fe 100644 --- a/imports/go_import.owl +++ b/imports/go_import.owl @@ -277,6 +277,23 @@ + + + + + + + The chemical reactions and pathways resulting in the breakdown of amino acids containing sulfur, comprising cysteine, methionine and selenocysteine. + sulfur amino acid breakdown + sulfur amino acid catabolism + sulfur amino acid degradation + sulphur amino acid catabolic process + sulphur amino acid catabolism + sulfur amino acid catabolic process + + + + @@ -894,6 +911,35 @@ + + + + + + + + + + + Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). + translation initiation ternary complex assembly + formation of translation initiation ternary complex + + + + + + + + + + A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. + cell glucose homeostasis + cellular glucose homeostasis + + + + @@ -1697,6 +1743,104 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. + regulation of protein amino acid phosphorylation + regulation of protein phosphorylation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein. + down regulation of protein amino acid phosphorylation + down-regulation of protein amino acid phosphorylation + downregulation of protein amino acid phosphorylation + negative regulation of protein amino acid phosphorylation + inhibition of protein amino acid phosphorylation + negative regulation of protein phosphorylation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. + positive regulation of protein amino acid phosphorylation + up regulation of protein amino acid phosphorylation + up-regulation of protein amino acid phosphorylation + upregulation of protein amino acid phosphorylation + activation of protein amino acid phosphorylation + stimulation of protein amino acid phosphorylation + positive regulation of protein phosphorylation + + + + @@ -1940,6 +2084,103 @@ + + + + + The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein. + cytoplasmic translation + + + + + + + + + + + + + + + + + + + + + + + + + + The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in the cytoplasm. + cytoplasmic translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + The process preceding formation of the peptide bond between the first two amino acids of a protein in the cytoplasm. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. + cytoplasmic translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The process resulting in the release of a polypeptide chain from the ribosome in the cytoplasm, usually in response to a termination codon. + cytoplasmic translational termination + + + + @@ -6961,6 +7202,22 @@ + + + + + Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD(P)+ = an 11-oxosteroid + NAD(P)H + H(+). + beta-hydroxysteroid dehydrogenase + 11beta-hydroxy steroid dehydrogenase + 11beta-hydroxysteroid dehydrogenase + dehydrogenase, 11beta-hydroxy steroid + corticosteroid 11-reductase + corticosteroid 11beta-dehydrogenase + 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity + + + + @@ -7286,6 +7543,18 @@ + + + + + Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. + D-glucose-6-phosphate phosphohydrolase activity + glucose 6-phosphate phosphatase activity + glucose-6-phosphatase activity + + + + @@ -7750,6 +8019,104 @@ + + + + + + + + + + + + + Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. + protamine kinase activity + protein kinase activity + + + + + + + + + Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. + protein serine-threonine kinase activity + serine(threonine) protein kinase activity + serine/threonine protein kinase activity + protein kinase (phosphorylating) activity + protein phosphokinase activity + protein serine kinase activity + protein-serine kinase activity + serine kinase activity + serine protein kinase activity + serine-specific protein kinase activity + threonine-specific protein kinase activity + protein serine/threonine kinase activity + + + + + + + + + Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate. These reactions require the presence of calcium-bound calmodulin. + ATP:protein phosphotransferase (Ca2+/calmodulin-dependent) activity + Ca2+/CaM-dependent kinase activity + Ca2+/calmodulin-dependent protein kinase activity + CaM kinase activity + CaM-regulated serine/threonine kinase activity + calcium- and calmodulin-dependent protein kinase activity + calcium/calmodulin-dependent protein kinase activity + calmodulin regulated protein kinase activity + ATP:caldesmon O-phosphotransferase activity + Ca2+/calmodulin-dependent microtubule-associated protein 2 kinase activity + Ca2+/calmodulin-dependent protein kinase 1 activity + Ca2+/calmodulin-dependent protein kinase II activity + Ca2+/calmodulin-dependent protein kinase IV activity + Ca2+/calmodulin-dependent protein kinase kinase activity + Ca2+/calmodulin-dependent protein kinase kinase beta activity + CaM kinase II activity + calcium/calmodulin-dependent protein kinase type II activity + caldesmon kinase (phosphorylating) activity + calmodulin-dependent kinase II activity + calmodulin-dependent protein kinase I activity + CAM PKII + CaMKI + CaMKII + CaMKIV + CaMKKalpha + CaMKKbeta + STK20 + microtubule-associated protein 2 kinase activity + multifunctional calcium- and calmodulin-regulated protein kinase activity + multifunctional calcium/calmodulin regulated protein kinase activity + calmodulin-dependent protein kinase activity + + + + + + + + + Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a. + ATP:phosphorylase-b phosphotransferase activity + dephosphophosphorylase kinase activity + glycogen phosphorylase kinase activity + phosphorylase B kinase activity + phosphorylase kinase (phosphorylating) activity + phosphorylase kinase, intrinsic catalyst activity + PHK + STK17 + phosphorylase kinase activity + + + + @@ -9926,6 +10293,227 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. + protein anabolism + protein biosynthesis + protein biosynthetic process + protein formation + protein synthesis + protein translation + translation + + + + + + + + + + + + + + + + + + + + + The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. + biopolymerisation + biopolymerization + protein synthesis initiation + translation initiation + translational initiation + + + + + + + + + + + + + + + The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. + protein synthesis elongation + translation elongation + translational elongation + + + + + + + + + + + + + + + The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). + protein synthesis termination + translation termination + translational complex disassembly + translational termination + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. + regulation of protein anabolism + regulation of protein biosynthesis + regulation of protein formation + regulation of protein synthesis + regulation of translation + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of translational initiation. + regulation of translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, extent or accuracy of translational elongation. + regulation of translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of translational termination. + regulation of translational termination + + + + @@ -9940,6 +10528,51 @@ + + + + + + The process of introducing a phosphate group on to a protein. + protein amino acid phosphorylation + protein phosphorylation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. + down regulation of protein kinase activity + down-regulation of protein kinase activity + downregulation of protein kinase activity + inhibition of protein kinase activity + negative regulation of protein kinase activity + + + + @@ -10155,6 +10788,20 @@ + + + + + + The chemical reactions and pathways involving methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. + methionine and threonine metabolic process + methionine and threonine metabolism + methionine metabolism + methionine metabolic process + + + + @@ -11302,6 +11949,17 @@ + + + + + An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. + receptor mediated endocytosis + receptor-mediated endocytosis + + + + @@ -12267,6 +12925,24 @@ + + + + + + + + + + + + + The introduction of semen or sperm into the genital tract of a female. + insemination + + + + @@ -12844,6 +13520,22 @@ + + + + + + Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether. + 6-thiopurine transmethylase activity + S-adenosyl-L-methionine:thiopurine S-methyltransferase activity + mercaptopurine methyltransferase activity + thiopurine methyltransferase activity + TPMT + thiopurine S-methyltransferase activity + + + + @@ -12899,6 +13591,16 @@ + + + + + Catalysis of the transfer of a methyl group to the sulfur atom of an acceptor molecule. + S-methyltransferase activity + + + + @@ -13635,6 +14337,20 @@ + + + + + + The chemical reactions and pathways resulting in the breakdown of amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. + aspartate family amino acid breakdown + aspartate family amino acid catabolism + aspartate family amino acid degradation + aspartate family amino acid catabolic process + + + + @@ -13701,6 +14417,21 @@ + + + + + + + The chemical reactions and pathways resulting in the breakdown of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. + methionine breakdown + methionine catabolism + methionine degradation + methionine catabolic process + + + + @@ -14532,6 +15263,40 @@ + + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. + response to carbohydrate stimulus + response to carbohydrate + + + + + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. + response to hexose stimulus + response to hexose + + + + + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. + response to glucose stimulus + response to glucose + + + + @@ -15159,6 +15924,18 @@ + + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. + response to organic nitrogen + response to organonitrogen compound + + + + @@ -15823,6 +16600,16 @@ + + + + + Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. + posttranscriptional regulation of gene expression + + + + @@ -16906,6 +17693,92 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. + regulation of phosphatase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. + positive regulation of phosphatase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. + negative regulation of phosphatase activity + + + + @@ -17233,6 +18106,89 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. + regulation of lipoprotein particle clearance + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. + negative regulation of lipoprotein particle clearance + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. + positive regulation of lipoprotein particle clearance + + + + @@ -17640,6 +18596,22 @@ + + + + + + + + + + + Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. + glucose-6-phosphate transmembrane transporter activity + + + + @@ -17689,6 +18661,28 @@ + + + + + Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. + active transporter + coupled carrier + electrochemical potential-driven transporter activity + porter activity + porters + secondary carrier-type facilitators + energizer of outer membrane receptor-mediated transport activity + heavy metal ion porter activity + ion-gradient-driven energizer activity + multidrug endosomal transmembrane transporter activity + nitrite/nitrate porter activity + galactose/glucose (methylgalactoside) porter activity + secondary active transmembrane transporter activity + + + + @@ -17701,6 +18695,22 @@ + + + + + + + + + + + Enables the transfer of thyroid hormones from one side of a membrane to the other. Thyroid hormone are any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. + thyroid hormone transmembrane transporter activity + + + + @@ -17776,6 +18786,17 @@ + + + + + + The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + hexose phosphate transport + + + + @@ -17798,6 +18819,16 @@ + + + + + The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. + organophosphate ester transport + + + + @@ -17818,6 +18849,16 @@ + + + + + The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. + glucose-6-phosphate transport + + + + @@ -18455,6 +19496,16 @@ + + + + + The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. + dephosphorylation + + + + @@ -18972,6 +20023,34 @@ + + + + + + + + + + + Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. + phosphoric monoester hydrolase activity + 4-nitrophenylphosphatase activity + 4-nitrophenylphosphate phosphohydrolase activity + K-pNPPase activity + NPPase activity + PNPPase activity + ecto-p-nitrophenyl phosphatase activity + nitrophenyl phosphatase activity + p-nitrophenylphosphatase activity + p-nitrophenylphosphate phosphohydrolase activity + para-nitrophenyl phosphatase activity + phosphatase + phosphatase activity + + + + @@ -19102,6 +20181,27 @@ + + + + + Catalysis of the release of ammonia or one of its derivatives, with the formation of a double bond or ring. Enzymes with this activity may catalyze the actual elimination of the ammonia, amine or amide, e.g. CH-CH(-NH-R) = C=CH- + NH2-R. Others, however, catalyze elimination of another component, e.g. water, which is followed by spontaneous reactions that lead to breakage of the C-N bond, e.g. L-serine ammonia-lyase (EC:4.3.1.17), so that the overall reaction is C(-OH)-CH(-NH2) = CH2-CO- + NH3, i.e. an elimination with rearrangement. The sub-subclasses of EC:4.3 are the ammonia-lyases (EC:4.3.1), lyases acting on amides, amidines, etc. (EC:4.3.2), the amine-lyases (EC:4.3.3), and other carbon-nitrogen lyases (EC:4.3.99). + other carbon-nitrogen lyase activity + carbon-nitrogen lyase activity + + + + + + + + + Catalysis of the release of amides or amidines by the cleavage of a carbon-nitrogen bond or the reverse reaction with an amide or amidine as a substrate. + amidine-lyase activity + + + + @@ -19282,6 +20382,48 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. + down regulation of protein biosynthetic process + down-regulation of protein biosynthetic process + downregulation of protein biosynthetic process + negative regulation of protein anabolism + negative regulation of protein biosynthesis + negative regulation of protein biosynthetic process + negative regulation of protein formation + negative regulation of protein synthesis + inhibition of protein biosynthetic process + protein biosynthesis inhibitor activity + protein biosynthetic process inhibitor activity + negative regulation of translation + + + + @@ -19433,6 +20575,16 @@ + + + + + Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. + carbohydrate phosphatase activity + + + + @@ -20498,6 +21650,38 @@ + + + + + A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. + RNA-protein complex biogenesis + ribonucleoprotein complex biogenesis and assembly + ribonucleoprotein complex biogenesis + + + + + + + + + + + + + + + + The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. + RNA-protein complex assembly + RNP complex assembly + protein-RNA complex assembly + ribonucleoprotein complex assembly + + + + @@ -20535,6 +21719,20 @@ + + + + + Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. + active carrier activity + carrier activity + permease activity + pump activity + active transmembrane transporter activity + + + + @@ -23110,6 +24308,72 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. + down regulation of protein complex assembly + down-regulation of protein complex assembly + downregulation of protein complex assembly + inhibition of protein complex assembly + negative regulation of protein complex assembly + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of protein complex assembly. + up regulation of protein complex assembly + up-regulation of protein complex assembly + upregulation of protein complex assembly + activation of protein complex assembly + stimulation of protein complex assembly + positive regulation of protein complex assembly + + + + @@ -24599,6 +25863,60 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of carbohydrate phosphatase activity, the catalysis of the hydrolysis of phosphate from a carbohydrate phosphate. + regulation of carbohydrate phosphatase activity + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of glucose-6-phosphatase activity, the catalysis of the reaction: D-glucose 6-phosphate + H2O = D-glucose + phosphate. + regulation of glucose-6-phosphatase activity + + + + @@ -24739,6 +26057,115 @@ + + + + + The regulated release of a gonadotropin, any hormone that stimulates the gonads, especially follicle-stimulating hormone and luteinizing hormone. + gonadotrophin secretion + gonadotropin secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the regulated release of a gonadotropin. + regulation of gonadotrophin secretion + regulation of gonadotropin secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a gonadotropin. + down regulation of gonadotropin secretion + down-regulation of gonadotropin secretion + downregulation of gonadotropin secretion + negative regulation of gonadotrophin secretion + inhibition of gonadotropin secretion + negative regulation of gonadotropin secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the regulated release of a gonadotropin. + positive regulation of gonadotrophin secretion + up regulation of gonadotropin secretion + up-regulation of gonadotropin secretion + upregulation of gonadotropin secretion + activation of gonadotropin secretion + stimulation of gonadotropin secretion + positive regulation of gonadotropin secretion + + + + @@ -25314,6 +26741,42 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. + mitochondrial protein anabolism + mitochondrial protein biosynthesis + mitochondrial protein formation + mitochondrial protein synthesis + mitochondrial protein translation + mitochondrial translation + + + + @@ -25613,6 +27076,28 @@ + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. + response to insulin stimulus + response to insulin + + + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. + cellular response to insulin stimulus + + + + @@ -25853,6 +27338,31 @@ + + + + + + The disaggregation of a protein-containing macromolecular complex into its constituent components. + protein complex disassembly + cellular macromolecule complex disassembly + macromolecule complex disassembly + protein-containing complex disassembly + + + + + + + + + + The disaggregation of a protein-lipid complex into its constituent components. + protein-lipid complex disassembly + + + + @@ -26886,6 +28396,16 @@ + + + + + A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. + carbohydrate homeostasis + + + + @@ -27472,6 +28992,17 @@ + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. + response to monosaccharide stimulus + response to monosaccharide + + + + @@ -27484,6 +29015,35 @@ + + + + + + + + + + + + + + + + + + + + + + + The process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. + lipoprotein particle clearance + plasma lipoprotein particle clearance + + + + @@ -27540,6 +29100,18 @@ + + + + + The aggregation, arrangement and bonding together of a set of components to form a protein complex, occurring at the level of an individual cell. + cellular protein complex assembly + cellular macromolecule complex assembly + cellular protein-containing complex assembly + + + + @@ -28329,6 +29901,98 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule. + regulation of dephosphorylation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule. + down regulation of dephosphorylation + down-regulation of dephosphorylation + downregulation of dephosphorylation + inhibition of dephosphorylation + negative regulation of dephosphorylation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule. + up regulation of dephosphorylation + up-regulation of dephosphorylation + upregulation of dephosphorylation + activation of dephosphorylation + stimulation of dephosphorylation + positive regulation of dephosphorylation + + + + @@ -28456,6 +30120,65 @@ + + + + + + + + + + + + + + + + + + + + + + + The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. + insulin secretion involved in cellular response to glucose + insulin secretion involved in cellular response to glucose stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. + positive regulation of insulin secretion in response to glucose + positive regulation of insulin secretion involved in cellular response to glucose stimulus + + + + @@ -28512,6 +30235,16 @@ + + + + + The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. + glucocorticoid secretion + + + + @@ -28730,6 +30463,38 @@ + + + + + + + + + + + + + + + + + + + + + + Combining selectively with an extracellular substance and delivering the substance into the cell via endocytosis. + receptor activity + transport receptor activity + endocytic receptor activity + receptor activity involved in ligand uptake + receptor activity involved in receptor-mediated endocytosis + cargo receptor activity + + + + @@ -29966,6 +31731,16 @@ + + + + + Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. + phosphoric ester hydrolase activity + + + + @@ -30031,6 +31806,16 @@ + + + + + Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. + glucose homeostasis + + + + @@ -30109,6 +31894,22 @@ + + + + + + + + + + + The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract. + sperm ejaculation + + + + @@ -31001,6 +32802,39 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process in which proteins and protein complexes involved in translation are transported to, or maintained in, a specific location. + establishment and maintenance of translational machinery localization + establishment and maintenance of translational protein localization + regulation of translation by machinery localisation + translational machinery localization + translational protein localization + regulation of translation by machinery localization + + + + @@ -31225,6 +33059,126 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. + down regulation of protein complex disassembly + down-regulation of protein complex disassembly + downregulation of protein complex disassembly + inhibition of protein complex disassembly + negative regulation of protein complex disassembly + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. + up regulation of protein complex disassembly + up-regulation of protein complex disassembly + upregulation of protein complex disassembly + activation of protein complex disassembly + stimulation of protein complex disassembly + positive regulation of protein complex disassembly + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. + regulation of protein complex disassembly + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of protein complex assembly. + regulation of protein complex assembly + + + + @@ -31489,6 +33443,19 @@ + + + + + + + The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. + hydrocortisone secretion + cortisol secretion + + + + @@ -31562,6 +33529,19 @@ + + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. + response to peptide hormone stimulus + response to polypeptide hormone stimulus + response to peptide hormone + + + + @@ -31809,6 +33789,16 @@ + + + + + The disaggregation of a protein complex into its constituent components, occurring at the level of an individual cell. Protein complexes may have other associated non-protein prosthetic groups, such as nucleic acids, metal ions or carbohydrate groups. + cellular protein complex disassembly + + + + @@ -31948,6 +33938,24 @@ + + + + + Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. + protein complex subunit organisation + protein complex subunit organization + cellular macromolecular complex organization + cellular macromolecular complex subunit organisation + cellular macromolecular complex subunit organization + macromolecular complex organization + macromolecular complex subunit organisation + macromolecular complex subunit organization + protein-containing complex subunit organization + + + + @@ -32443,6 +34451,22 @@ + + + + + + The chemical reactions and pathways resulting in the breakdown of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. + sulfur compound breakdown + sulfur compound catabolism + sulfur compound degradation + sulfur catabolic process + sulfur catabolism + sulfur compound catabolic process + + + + @@ -32478,6 +34502,23 @@ + + + + + + + + + + + The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. + cellular glucose import in response to insulin stimulus + glucose import in response to insulin stimulus + + + + @@ -33537,6 +35578,34 @@ + + + + + + + + + + + + + + + + + + + + + + Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome. + translation factor activity + translation regulator activity + + + + @@ -35932,6 +38001,48 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. + positive regulation of protein anabolism + positive regulation of protein biosynthesis + positive regulation of protein biosynthetic process + positive regulation of protein formation + positive regulation of protein synthesis + up regulation of protein biosynthetic process + up-regulation of protein biosynthetic process + upregulation of protein biosynthetic process + activation of protein biosynthetic process + stimulation of protein biosynthetic process + positive regulation of translation + + + + @@ -37000,6 +39111,67 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of protein kinase activity. + regulation of protein kinase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of protein kinase activity. + up regulation of protein kinase activity + up-regulation of protein kinase activity + upregulation of protein kinase activity + stimulation of protein kinase activity + positive regulation of protein kinase activity + + + + @@ -37221,6 +39393,138 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation. + down regulation of translational elongation + down-regulation of translational elongation + downregulation of translational elongation + inhibition of translational elongation + negative regulation of translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of translational elongation. + up regulation of translational elongation + up-regulation of translational elongation + upregulation of translational elongation + activation of translational elongation + stimulation of translational elongation + positive regulation of translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of translational termination. + down regulation of translational termination + down-regulation of translational termination + downregulation of translational termination + inhibition of translational termination + negative regulation of translational termination + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of translational termination. + up regulation of translational termination + up-regulation of translational termination + upregulation of translational termination + activation of translational termination + stimulation of translational termination + positive regulation of translational termination + + + + @@ -37981,6 +40285,71 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation. + down regulation of translational initiation + down-regulation of translational initiation + downregulation of translational initiation + inhibition of translational initiation + negative regulation of translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of translational initiation. + up regulation of translational initiation + up-regulation of translational initiation + upregulation of translational initiation + activation of translational initiation + stimulation of translational initiation + positive regulation of translational initiation + + + + @@ -38558,6 +40927,112 @@ + + + + + The directed movement of the hexose monosaccharide glucose into a cell or organelle. + glucose uptake + glucose import + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. + regulation of glucose uptake + regulation of glucose import + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. + down regulation of glucose import + down-regulation of glucose import + downregulation of glucose import + negative regulation of glucose uptake + inhibition of glucose import + negative regulation of glucose import + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. + positive regulation of glucose uptake + up regulation of glucose import + up-regulation of glucose import + upregulation of glucose import + activation of glucose import + stimulation of glucose import + positive regulation of glucose import + + + + @@ -39662,6 +42137,101 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. + regulation of receptor mediated endocytosis + regulation of receptor-mediated endocytosis + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. + positive regulation of receptor mediated endocytosis + up regulation of receptor mediated endocytosis + up-regulation of receptor mediated endocytosis + upregulation of receptor mediated endocytosis + activation of receptor mediated endocytosis + stimulation of receptor mediated endocytosis + positive regulation of receptor-mediated endocytosis + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. + down regulation of receptor mediated endocytosis + down-regulation of receptor mediated endocytosis + downregulation of receptor mediated endocytosis + negative regulation of receptor mediated endocytosis + inhibition of receptor mediated endocytosis + negative regulation of receptor-mediated endocytosis + + + + @@ -40568,6 +43138,30 @@ + + + + + Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. + sugar-phosphate phosphatase activity + sugar-phosphate phosphohydrolase activity + sugar-phosphatase activity + + + + + + + + + Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. + sugar-omega-phosphate phosphohydrolase activity + xylitol-5-phosphatase activity + sugar-terminal-phosphatase activity + + + + @@ -45673,6 +48267,101 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the regulated release of cortisol from a cell. + regulation of cortisol secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of cortisol from a cell. + down regulation of cortisol secretion + down-regulation of cortisol secretion + downregulation of cortisol secretion + inhibition of cortisol secretion + negative regulation of cortisol secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the regulated release of cortisol from a cell. + up regulation of cortisol secretion + up-regulation of cortisol secretion + upregulation of cortisol secretion + activation of cortisol secretion + stimulation of cortisol secretion + positive regulation of cortisol secretion + + + + @@ -49289,6 +51978,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. + regulation of insulin secretion in response to glucose + regulation of insulin secretion involved in cellular response to glucose stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. + negative regulation of insulin secretion involved in cellular response to glucose + negative regulation of insulin secretion in response to glucose + negative regulation of insulin secretion involved in cellular response to glucose stimulus + + + + @@ -49411,6 +52161,16 @@ + + + + + Catalysis of the reaction: UDP-glucose + (1,4)-alpha-D-glucosyl(n) = UMP + (1,4)-alpha-D-glucosyl(n)-glucose-1-phosphate. + glycogen synthase activity, transferring glucose-1-phosphate + + + + @@ -49564,6 +52324,22 @@ + + + + + + The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. + chaperone activity + macromolecular complex assembly + macromolecule complex assembly + protein complex assembly + protein complex formation + protein-containing complex assembly + + + + @@ -49786,6 +52562,274 @@ + + + + + + + + + + + + + + + + + + + + + + The process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA. + mitochondrial translation initiation + mitochondrial translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in a mitochondrion. + mitochondrial translation elongation + mitochondrial translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa). + mitochondrial translation termination + mitochondrial translational termination + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. + regulation of mitochondrial protein anabolism + regulation of mitochondrial protein biosynthesis + regulation of mitochondrial protein formation + regulation of mitochondrial protein synthesis + regulation of mitochondrial translation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. + negative regulation of mitochondrial protein anabolism + negative regulation of mitochondrial protein biosynthesis + negative regulation of mitochondrial protein formation + negative regulation of mitochondrial protein synthesis + negative regulation of mitochondrial translation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. + positive regulation of mitochondrial protein anabolism + positive regulation of mitochondrial protein biosynthesis + positive regulation of mitochondrial protein formation + positive regulation of mitochondrial protein synthesis + positive regulation of mitochondrial translation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. + regulation of mitochondrial translation initiation + regulation of mitochondrial translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. + negative regulation of mitochondrial translation initiation + negative regulation of mitochondrial translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. + positive regulation of mitochondrial translation initiation + positive regulation of mitochondrial translational initiation + + + + @@ -50233,6 +53277,19 @@ + + + + + Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide. + adenylosuccinase activity + adenylosuccinate lyase activity + succino AMP-lyase activity + (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity + + + + @@ -50713,6 +53770,52 @@ + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. + cellular response to carbohydrate stimulus + + + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. + cellular response to monosaccharide stimulus + + + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. + cellular response to hexose stimulus + + + + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. + cellular response to glucose stimulus + + + + @@ -50724,6 +53827,19 @@ + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. + cellular response to polypeptide hormone stimulus + cellular response to peptide hormone stimulus + + + + @@ -50760,6 +53876,20 @@ + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. + cellular response to organic nitrogen + cellular response to organonitrogen compound + + + + @@ -51038,6 +54168,70 @@ + + + + + Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein-lipid complex. + protein-lipid complex subunit organisation + protein-lipid complex subunit organization + + + + + + + + + Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. + RNA-protein complex subunit organization + protein-RNA complex subunit organization + ribonucleoprotein complex subunit organisation + ribonucleoprotein complex subunit organization + + + + + + + + + + + A protein-lipid complex subunit organization process that results in the formation, disassembly, or alteration of a plasma lipoprotein particle. A plasma lipoprotein particle is a spherical particle with a hydrophobic core of triglycerides and/or cholesterol esters, surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins. + plasma lipoprotein particle organisation + plasma lipoprotein particle organization + + + + + + + + + + + + + + + + The disaggregation of a plasma lipoprotein particle into its constituent components. + plasma lipoprotein particle disassembly + + + + + + + + + The process in which a triglyceride-rich lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. + triglyceride-rich lipoprotein particle clearance + + + + @@ -51051,6 +54245,89 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency, or extent of protein serine/threonine kinase activity. + regulation of protein serine/threonine kinase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency, or extent of protein serine/threonine kinase activity. + negative regulation of protein serine/threonine kinase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity. + positive regulation of protein serine/threonine kinase activity + + + + @@ -52704,6 +55981,17 @@ + + + + + Any process involved in the maintenance of internal levels of plasma lipoprotein particles within an organism. + plasma lipoprotein particle homeostasis + regulation of plasma lipoprotein particle levels + + + + @@ -53881,6 +57169,34 @@ + + + + + + + + + + + + + + + + + + + + + + Any signal transduction pathway involving calmodulin dependent kinase activity. + CAMK signaling pathway + calmodulin dependent kinase signaling pathway + + + + @@ -54298,6 +57614,38 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates synaptic transmission by regulating translation occurring at the synapse. + regulation of translation at synapse, modulating synaptic transmission + + + + @@ -54380,6 +57728,58 @@ + + + + + + + + + + + + + + + + + + + + + Any process that modulates synaptic transmission by regulating translation occurring at the presynapse. + regulation of translation at presynapse, modulating synaptic transmission + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates synaptic transmission by regulating translation occurring at the postsynapse. + regulation of translation at postsynapse, modulating synaptic transmission + + + + @@ -54462,6 +57862,28 @@ + + + + + + + + + + + + + + + + + Any protein phosphorylation process that negatively_regulates protein kinase activity + negative regulation of protein kinase activity by protein phosphorylation + + + + @@ -54484,6 +57906,28 @@ + + + + + + + + + + + + + + + + + Any transcription from RNA polymerase II promoter process that regulates glucose import + regulation of glucose import by transcription from RNA polymerase II promoter + + + + @@ -55573,6 +59017,100 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cellular response to insulin stimulus. + regulation of cellular response to insulin stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to insulin stimulus. + down regulation of cellular response to insulin stimulus + down-regulation of cellular response to insulin stimulus + downregulation of cellular response to insulin stimulus + inhibition of cellular response to insulin stimulus + negative regulation of cellular response to insulin stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cellular response to insulin stimulus. + up regulation of cellular response to insulin stimulus + up-regulation of cellular response to insulin stimulus + upregulation of cellular response to insulin stimulus + activation of cellular response to insulin stimulus + positive regulation of cellular response to insulin stimulus + + + + @@ -55906,6 +59444,100 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cytoplasmic translational elongation. + regulation of cytoplasmic translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational elongation. + down regulation of cytoplasmic translational elongation + down-regulation of cytoplasmic translational elongation + downregulation of cytoplasmic translational elongation + inhibition of cytoplasmic translational elongation + negative regulation of cytoplasmic translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cytoplasmic translational elongation. + up regulation of cytoplasmic translational elongation + up-regulation of cytoplasmic translational elongation + upregulation of cytoplasmic translational elongation + activation of cytoplasmic translational elongation + positive regulation of cytoplasmic translational elongation + + + + @@ -56066,6 +59698,35 @@ + + + + + + + + + + + + + + + + + + + + + + + A regulation of transcription from RNA polymerase II promoter that results in regulation of glucose import. + regulation of glucose uptake by regulation of transcription from RNA polymerase II promoter + regulation of glucose import by regulation of transcription from RNA polymerase II promoter + + + + @@ -56807,6 +60468,111 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of formation of translation initiation ternary complex. + regulation of translation initiation ternary complex assembly + regulation of formation of translation initiation ternary complex + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of formation of translation initiation ternary complex. + down regulation of formation of translation initiation ternary complex + down regulation of translation initiation ternary complex assembly + down-regulation of formation of translation initiation ternary complex + down-regulation of translation initiation ternary complex assembly + downregulation of formation of translation initiation ternary complex + downregulation of translation initiation ternary complex assembly + inhibition of translation initiation ternary complex assembly + negative regulation of translation initiation ternary complex assembly + inhibition of formation of translation initiation ternary complex + negative regulation of formation of translation initiation ternary complex + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of formation of translation initiation ternary complex. + activation of translation initiation ternary complex assembly + positive regulation of translation initiation ternary complex assembly + up regulation of formation of translation initiation ternary complex + up regulation of translation initiation ternary complex assembly + up-regulation of formation of translation initiation ternary complex + up-regulation of translation initiation ternary complex assembly + upregulation of formation of translation initiation ternary complex + upregulation of translation initiation ternary complex assembly + activation of formation of translation initiation ternary complex + positive regulation of formation of translation initiation ternary complex + + + + @@ -57684,6 +61450,29 @@ + + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. + response to peptide + + + + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. + cellular response to peptide + + + + @@ -57719,6 +61508,29 @@ + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. + response to nitrogen molecular entity + response to nitrogen compound + + + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. + cellular response to nitrogen molecular entity + cellular response to nitrogen compound + + + + @@ -64436,6 +68248,97 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. + regulation of glycogen synthase activity, transferring glucose-1-phosphate + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. + down regulation of glycogen synthase activity, transferring glucose-1-phosphate + down-regulation of glycogen synthase activity, transferring glucose-1-phosphate + downregulation of glycogen synthase activity, transferring glucose-1-phosphate + inhibition of glycogen synthase activity, transferring glucose-1-phosphate + negative regulation of glycogen synthase activity, transferring glucose-1-phosphate + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. + up regulation of glycogen synthase activity, transferring glucose-1-phosphate + up-regulation of glycogen synthase activity, transferring glucose-1-phosphate + upregulation of glycogen synthase activity, transferring glucose-1-phosphate + activation of glycogen synthase activity, transferring glucose-1-phosphate + positive regulation of glycogen synthase activity, transferring glucose-1-phosphate + + + + @@ -65124,6 +69027,100 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cytoplasmic translational initiation. + regulation of cytoplasmic translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational initiation. + down regulation of cytoplasmic translational initiation + down-regulation of cytoplasmic translational initiation + downregulation of cytoplasmic translational initiation + inhibition of cytoplasmic translational initiation + negative regulation of cytoplasmic translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cytoplasmic translational initiation. + up regulation of cytoplasmic translational initiation + up-regulation of cytoplasmic translational initiation + upregulation of cytoplasmic translational initiation + activation of cytoplasmic translational initiation + positive regulation of cytoplasmic translational initiation + + + + @@ -65914,6 +69911,41 @@ + + + + + + + + + + + + + + + + + + + + + + Any regulation of translation that is involved in cellular response to UV. + regulation of protein anabolism involved in cellular response to UV + regulation of protein biosynthesis involved in cellular response to UV + regulation of protein formation involved in cellular response to UV + regulation of protein synthesis involved in cellular response to UV + regulation of translation involved in cellular response to UV light stimulus + regulation of translation involved in cellular response to UV radiation stimulus + regulation of translation involved in cellular response to ultraviolet light stimulus + regulation of translation involved in cellular response to ultraviolet radiation stimulus + regulation of translation involved in cellular response to UV + + + + @@ -66081,6 +70113,111 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of mitochondrial translational elongation. + regulation of mitochondrial translation elongation + regulation of mitochondrial translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial translational elongation. + down regulation of mitochondrial translation elongation + down regulation of mitochondrial translational elongation + down-regulation of mitochondrial translation elongation + down-regulation of mitochondrial translational elongation + downregulation of mitochondrial translation elongation + downregulation of mitochondrial translational elongation + negative regulation of mitochondrial translation elongation + inhibition of mitochondrial translation elongation + inhibition of mitochondrial translational elongation + negative regulation of mitochondrial translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of mitochondrial translational elongation. + positive regulation of mitochondrial translation elongation + up regulation of mitochondrial translation elongation + up regulation of mitochondrial translational elongation + up-regulation of mitochondrial translation elongation + up-regulation of mitochondrial translational elongation + upregulation of mitochondrial translation elongation + upregulation of mitochondrial translational elongation + activation of mitochondrial translation elongation + activation of mitochondrial translational elongation + positive regulation of mitochondrial translational elongation + + + + @@ -67404,6 +71541,34 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cytoplasmic translational termination. + regulation of cytoplasmic translational termination + + + + @@ -68997,6 +73162,89 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cytoplasmic translation. + regulation of cytoplasmic translation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translation. + negative regulation of cytoplasmic translation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cytoplasmic translation. + positive regulation of cytoplasmic translation + + + + @@ -69471,6 +73719,89 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of glucocorticoid secretion. + regulation of glucocorticoid secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid secretion. + negative regulation of glucocorticoid secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of glucocorticoid secretion. + positive regulation of glucocorticoid secretion + + + + @@ -70427,6 +74758,95 @@ positive regulation of nonselective cation channel activity positive regulation of cation channel activity + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of glucose import in response to insulin stimulus. + regulation of cellular glucose import in response to insulin stimulus + regulation of glucose import in response to insulin stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of glucose import in response to insulin stimulus. + negative regulation of cellular glucose import in response to insulin stimulus + negative regulation of glucose import in response to insulin stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of glucose import in response to insulin stimulus. + positive regulation of cellular glucose import in response to insulin stimulus + positive regulation of glucose import in response to insulin stimulus + diff --git a/imports/hp_import.obo b/imports/hp_import.obo index e962b36193..da48d3ecb5 100644 --- a/imports/hp_import.obo +++ b/imports/hp_import.obo @@ -2508,6 +2508,16 @@ xref: SNOMEDCT_US:3716002 xref: UMLS:C0018021 is_a: HP:0011772 ! Abnormality of thyroid morphology +[Term] +id: HP:0000855 +name: Insulin resistance +namespace: human_phenotype +def: "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels." [HPO:probinson] +xref: MSH:D007333 +xref: SNOMEDCT_US:48606007 +xref: UMLS:C0021655 +is_a: HP:0011014 ! Abnormal glucose homeostasis + [Term] id: HP:0000858 name: Menstrual irregularities @@ -8848,6 +8858,17 @@ xref: SNOMEDCT_US:20018005 xref: UMLS:C0041956 is_a: HP:0000069 ! Abnormality of the ureter +[Term] +id: HP:0006476 +name: Abnormality of the pancreatic islet cells +namespace: human_phenotype +alt_id: HP:0100567 +def: "An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin." [HPO:probinson] +xref: UMLS:C4025043 +is_a: HP:0012093 ! Abnormality of endocrine pancreas physiology +created_by: peter +creation_date: 2008-03-28T04:41:00Z + [Term] id: HP:0006483 name: Abnormal number of teeth @@ -11736,6 +11757,17 @@ is_a: HP:0001732 ! Abnormality of the pancreas created_by: peter creation_date: 2012-08-20T09:17:10Z +[Term] +id: HP:0012093 +name: Abnormality of endocrine pancreas physiology +namespace: human_phenotype +def: "A function abnormality of the endocrine pancreas." [HPO:probinson] +xref: UMLS:C4023047 +is_a: HP:0000818 ! Abnormality of the endocrine system +is_a: HP:0012091 ! Abnormality of pancreas physiology +created_by: peter +creation_date: 2012-08-20T09:18:18Z + [Term] id: HP:0012115 name: Hepatitis diff --git a/imports/hp_import.owl b/imports/hp_import.owl index 0c0361f648..31d8ffa213 100644 --- a/imports/hp_import.owl +++ b/imports/hp_import.owl @@ -6872,6 +6872,27 @@ + + + + + Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. + MSH:D007333 + SNOMEDCT_US:48606007 + UMLS:C0021655 + human_phenotype + HP:0000855 + Insulin resistance + + + + + Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. + HPO:probinson + + + + @@ -13335,6 +13356,12 @@ HP:0001974 Leukocytosis + + + + High white blood count + + @@ -13354,12 +13381,6 @@ Elevated white blood count - - - - High white blood count - - @@ -21593,6 +21614,28 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h + + + + + An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. + peter + 2008-03-28T04:41:00Z + HP:0100567 + UMLS:C4025043 + human_phenotype + HP:0006476 + Abnormality of the pancreatic islet cells + + + + + An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. + HPO:probinson + + + + @@ -27994,6 +28037,28 @@ and two otolith organs that are sensitive to linear acceleration. + + + + + + A function abnormality of the endocrine pancreas. + peter + 2012-08-20T09:18:18Z + UMLS:C4023047 + human_phenotype + HP:0012093 + Abnormality of endocrine pancreas physiology + + + + + A function abnormality of the endocrine pancreas. + HPO:probinson + + + + diff --git a/imports/ncbitaxon_import.obo b/imports/ncbitaxon_import.obo index 9cdd3f6af5..4f17e93fc6 100644 --- a/imports/ncbitaxon_import.obo +++ b/imports/ncbitaxon_import.obo @@ -77,6 +77,18 @@ xref: GC_ID:1 is_a: NCBITaxon:39107 ! Murinae property_value: has_rank NCBITaxon:genus +[Term] +id: NCBITaxon:10232 +name: Acanthocephala +namespace: ncbi_taxonomy +synonym: "acanthocephalans" EXACT common_name [] +synonym: "spiny-headed worms" EXACT common_name [] +synonym: "thorny-headed worms" EXACT genbank_common_name [] +synonym: "thorny-headed worms" RELATED blast_name [] +xref: GC_ID:1 +is_a: NCBITaxon:1206795 ! Lophotrochozoa +property_value: has_rank NCBITaxon:phylum + [Term] id: NCBITaxon:10239 name: Viruses @@ -2515,6 +2527,23 @@ xref: GC_ID:1 is_a: NCBITaxon:119088 ! Enoplea property_value: has_rank NCBITaxon:subclass +[Term] +id: NCBITaxon:1463974 +name: Cryptostroma +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:189359 ! Xylariales incertae sedis +property_value: has_rank NCBITaxon:genus + +[Term] +id: NCBITaxon:1463975 +name: Cryptostroma corticale +namespace: ncbi_taxonomy +synonym: "Coniosporium corticale" RELATED synonym [] +xref: GC_ID:1 +is_a: NCBITaxon:1463974 ! Cryptostroma +property_value: has_rank NCBITaxon:species + [Term] id: NCBITaxon:147368 name: Pooideae @@ -3744,6 +3773,14 @@ is_a: NCBITaxon:83145 ! Eleutherengona id: NCBITaxon:1891762 alt_id: NCBITaxon:10629 +[Term] +id: NCBITaxon:189359 +name: Xylariales incertae sedis +namespace: ncbi_taxonomy +alt_id: NCBITaxon:67607 +xref: GC_ID:1 +is_a: NCBITaxon:37989 ! Xylariales + [Term] id: NCBITaxon:1897064 name: Cryptococcus neoformans species complex @@ -3791,6 +3828,15 @@ xref: PMID:15264635 is_a: NCBITaxon:1056966 ! Aedini property_value: has_rank NCBITaxon:genus +[Term] +id: NCBITaxon:1913637 +name: Mucoromycota +namespace: ncbi_taxonomy +xref: GC_ID:1 +xref: PMID:27738200 +is_a: NCBITaxon:4751 ! Fungi +property_value: has_rank NCBITaxon:phylum + [Term] id: NCBITaxon:1913638 name: Zoopagomycota @@ -4386,6 +4432,14 @@ xref: GC_ID:1 is_a: NCBITaxon:147550 ! Sordariomycetes property_value: has_rank NCBITaxon:subclass +[Term] +id: NCBITaxon:222545 +name: Xylariomycetidae +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:147550 ! Sordariomycetes +property_value: has_rank NCBITaxon:subclass + [Term] id: NCBITaxon:223472 name: Psoroptidia @@ -6346,6 +6400,15 @@ xref: GC_ID:1 is_a: NCBITaxon:147553 ! Pneumocystidomycetes property_value: has_rank NCBITaxon:order +[Term] +id: NCBITaxon:37989 +name: Xylariales +namespace: ncbi_taxonomy +synonym: "Sphaeriales" RELATED synonym [] +xref: GC_ID:1 +is_a: NCBITaxon:222545 ! Xylariomycetidae +property_value: has_rank NCBITaxon:order + [Term] id: NCBITaxon:38323 name: Bartonella henselae @@ -7217,6 +7280,20 @@ xref: GC_ID:1 is_a: NCBITaxon:38820 ! Poales property_value: has_rank NCBITaxon:family +[Term] +id: NCBITaxon:451507 +name: Mucoromycotina +namespace: ncbi_taxonomy +synonym: "Zygomycota" RELATED in_part [] +xref: GC_ID:1 +xref: PMID:14715234 +xref: PMID:17010206 +xref: PMID:17051209 +xref: PMID:17572334 +xref: PMID:27738200 +is_a: NCBITaxon:1913637 ! Mucoromycota +property_value: has_rank NCBITaxon:subphylum + [Term] id: NCBITaxon:451864 name: Dikarya @@ -9251,6 +9328,14 @@ xref: GC_ID:1 is_a: NCBITaxon:6209 ! Echinococcus property_value: has_rank NCBITaxon:species +[Term] +id: NCBITaxon:6213 +name: Echinococcus vogeli +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:6209 ! Echinococcus +property_value: has_rank NCBITaxon:species + [Term] id: NCBITaxon:6231 name: Nematoda diff --git a/imports/ncbitaxon_import.owl b/imports/ncbitaxon_import.owl index 66cb33bee8..4561d62dd8 100644 --- a/imports/ncbitaxon_import.owl +++ b/imports/ncbitaxon_import.owl @@ -326,6 +326,47 @@ + + + + + + GC_ID:1 + acanthocephalans + spiny-headed worms + thorny-headed worms + ncbi_taxonomy + thorny-headed worms + NCBITaxon:10232 + Acanthocephala + + + + + acanthocephalans + + + + + + spiny-headed worms + + + + + + thorny-headed worms + + + + + + thorny-headed worms + + + + + @@ -1622,43 +1663,43 @@ - dengue virus type 1 DEN1 + Dengue virus type 1 - dengue virus type I - + Type 1 dengue virus + - dengue virus-1 DEN-1 + dengue type 1 D1 virus - type 1 dengue virus DEN-1 + dengue virus type 1 DEN1 - Dengue virus type 1 + dengue virus type I - Type 1 dengue virus - + dengue virus-1 DEN-1 + - dengue type 1 D1 virus + type 1 dengue virus DEN-1 @@ -6536,6 +6577,39 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:1463974 + Cryptostroma + + + + + + + + + + GC_ID:1 + ncbi_taxonomy + Coniosporium corticale + NCBITaxon:1463975 + Cryptostroma corticale + + + + + Coniosporium corticale + + + + + @@ -9249,6 +9323,19 @@ + + + + + NCBITaxon:67607 + GC_ID:1 + ncbi_taxonomy + NCBITaxon:189359 + Xylariales incertae sedis + + + + @@ -9345,6 +9432,20 @@ + + + + + + GC_ID:1 + PMID:27738200 + ncbi_taxonomy + NCBITaxon:1913637 + Mucoromycota + + + + @@ -10501,6 +10602,19 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:222545 + Xylariomycetidae + + + + @@ -15073,6 +15187,26 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + Sphaeriales + NCBITaxon:37989 + Xylariales + + + + + Sphaeriales + + + + + @@ -16874,6 +17008,31 @@ + + + + + + GC_ID:1 + PMID:14715234 + PMID:17010206 + PMID:17051209 + PMID:17572334 + PMID:27738200 + ncbi_taxonomy + Zygomycota + NCBITaxon:451507 + Mucoromycotina + + + + + Zygomycota + + + + + @@ -17319,13 +17478,13 @@ - Commeliniflorae + Commelinidae - Commelinidae + Commeliniflorae @@ -21294,6 +21453,19 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:6213 + Echinococcus vogeli + + + + diff --git a/imports/oba_import.obo b/imports/oba_import.obo new file mode 100644 index 0000000000..b562f3ca69 --- /dev/null +++ b/imports/oba_import.obo @@ -0,0 +1,185 @@ +format-version: 1.2 +ontology: mondo/imports/oba_import + +[Term] +id: OBA:0000001 +name: biological attribute +is_a: PATO:0000001 ! quality + +[Term] +id: OBA:0100003 +name: anatomical entity attribute +def: "The quality of a anatomical entity." [] +synonym: "quality of anatomical entity" EXACT [] +is_a: OBA:0000001 ! biological attribute +intersection_of: PATO:0000001 ! quality +intersection_of: RO:0000052 UBERON:0001062 ! inheres in anatomical entity +relationship: RO:0000052 UBERON:0001062 ! inheres in anatomical entity + +[Term] +id: OBA:1001084 +name: feces osmolality +def: "The osmolality of a feces." [] +synonym: "osmolality of feces" EXACT [] +is_a: OBA:0100003 ! anatomical entity attribute +is_a: PATO:0002027 ! osmolality +intersection_of: PATO:0002027 ! osmolality +intersection_of: RO:0000052 UBERON:0001988 ! inheres in feces +relationship: RO:0000052 UBERON:0001988 ! inheres in feces + +[Term] +id: OBA:VT0010454 +name: organism trait +def: "The quality when measured in multicellular organism." [] +synonym: "multicellular organism quality" EXACT [] +is_a: OBA:0100003 ! anatomical entity attribute +intersection_of: PATO:0000001 ! quality +intersection_of: RO:0000052 UBERON:0000468 ! inheres in multicellular organism +relationship: RO:0000052 UBERON:0000468 ! inheres in multicellular organism + +[Term] +id: PATO:0000001 +name: quality + +[Term] +id: PATO:0000033 +name: concentration of +is_a: PATO:0002182 ! molecular quality + +[Term] +id: PATO:0001241 +name: physical object quality +is_a: PATO:0000001 ! quality + +[Term] +id: PATO:0002027 +name: osmolality +is_a: PATO:0000033 ! concentration of + +[Term] +id: PATO:0002182 +name: molecular quality +is_a: PATO:0001241 ! physical object quality + +[Term] +id: UBERON:0000061 +name: anatomical structure +def: "Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome." [] +synonym: "biological structure" EXACT [] +synonym: "connected biological structure" EXACT [] +is_a: UBERON:0000465 ! material anatomical entity + +[Term] +id: UBERON:0000174 +name: excreta +def: "A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity" [] +synonym: "excreted substance" EXACT [] +synonym: "excretion" RELATED [] +synonym: "portion of excreted substance" EXACT [] +synonym: "waste substance" EXACT [] +is_a: UBERON:0000463 ! organism substance + +[Term] +id: UBERON:0000463 +name: organism substance +def: "Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body." [] +synonym: "body fluid or substance" EXACT [] +synonym: "body substance" EXACT [] +synonym: "organism substance" EXACT [] +synonym: "portion of body substance" EXACT [] +synonym: "portion of organism substance" EXACT [] +is_a: UBERON:0000465 ! material anatomical entity +relationship: BFO:0000050 UBERON:0000468 ! part_of multicellular organism + +[Term] +id: UBERON:0000465 +name: material anatomical entity +def: "Anatomical entity that has mass." [] +is_a: UBERON:0001062 ! anatomical entity + +[Term] +id: UBERON:0000468 +name: multicellular organism +def: "Anatomical structure that is an individual member of a species and consists of more than one cell." [] +synonym: "animal" NARROW [] +synonym: "body" RELATED [] +synonym: "Koerper" RELATED [] +synonym: "multi-cellular organism" EXACT [] +synonym: "organism" EXACT [] +synonym: "whole body" RELATED [] +synonym: "whole organism" EXACT [] +is_a: UBERON:0010000 ! multicellular anatomical structure + +[Term] +id: UBERON:0001062 +name: anatomical entity +def: "Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species." [] + +[Term] +id: UBERON:0001988 +name: feces +def: "Portion of semisolid bodily waste discharged through the anus[MW,modified]" [] +synonym: "cow dung" NARROW [] +synonym: "cow pat" NARROW [] +synonym: "droppings" RELATED [] +synonym: "dung" NARROW [] +synonym: "excrement" RELATED [] +synonym: "excreta" BROAD [] +synonym: "faeces" EXACT [] +synonym: "fecal material" EXACT [] +synonym: "fecal matter" EXACT [] +synonym: "fewmet" NARROW [] +synonym: "frass" NARROW [] +synonym: "guano" NARROW [] +synonym: "matières fécales@fr" EXACT [] +synonym: "merde@fr" EXACT [] +synonym: "ordure" RELATED [] +synonym: "partie de la merde@fr" EXACT [] +synonym: "piece of shit" EXACT [] +synonym: "porción de mierda@en" EXACT [] +synonym: "portion of dung" NARROW [] +synonym: "portion of excrement" EXACT [] +synonym: "portion of faeces" EXACT [] +synonym: "portion of fecal material" EXACT [] +synonym: "portion of fecal matter" EXACT [] +synonym: "portion of feces" EXACT [] +synonym: "portion of guano" NARROW [] +synonym: "portion of scat" NARROW [] +synonym: "portionem cacas" EXACT [] +synonym: "scat" NARROW [] +synonym: "spoor" RELATED [] +synonym: "spraint" NARROW [] +synonym: "stool" EXACT [] +synonym: "teil der fäkalien@de" EXACT [] +is_a: UBERON:0000174 ! excreta + +[Term] +id: UBERON:0010000 +name: multicellular anatomical structure +def: "An anatomical structure that has more than one cell as a part." [] +synonym: "multicellular structure" EXACT [] +is_a: UBERON:0000061 ! anatomical structure + +[Typedef] +id: BFO:0000050 +name: part of +name: part_of +is_transitive: true +inverse_of: BFO:0000051 ! has part + +[Typedef] +id: BFO:0000051 +name: has part +name: has_part +is_transitive: true + +[Typedef] +id: RO:0000052 +name: inheres in +is_a: RO:0002314 ! inheres in part -of + +[Typedef] +id: RO:0002314 +name: inheres in part -of +holds_over_chain: RO:0000052 BFO:0000050 + diff --git a/imports/oba_import.owl b/imports/oba_import.owl new file mode 100644 index 0000000000..113eede024 --- /dev/null +++ b/imports/oba_import.owl @@ -0,0 +1,467 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + part of + part_of + + + + + + + + + has part + has_part + + + + + + + + + inheres in + + + + + + + + + + + + inheres in part -of + + + + + + + + + + + + + + biological attribute + + + + + + + + + + + + + + + + + + + + + + + + + + The quality of a anatomical entity. + quality of anatomical entity + anatomical entity attribute + + + + + + + + + + + + + + + + + + + + + + + + + + + The osmolality of a feces. + osmolality of feces + feces osmolality + + + + + + + + + + + + + + + + + + + + + + + + + + The quality when measured in multicellular organism. + multicellular organism quality + organism trait + + + + + + + + quality + + + + + + + + + concentration of + + + + + + + + + physical object quality + + + + + + + + + osmolality + + + + + + + + + molecular quality + + + + + + + + + Material anatomical entity that is a single connected structure with inherent 3D shape generated by coordinated expression of the organism's own genome. + biological structure + connected biological structure + anatomical structure + + + + + + + + + A portion of organism substance that is the product of an excretion process that will be eliminated from the body. An excretion process is elimination by an organism of the waste products that arise as a result of metabolic activity + excreted substance + portion of excreted substance + waste substance + excretion + excreta + + + + + + + + + + + + + + + Material anatomical entity in a gaseous, liquid, semisolid or solid state; produced by anatomical structures or derived from inhaled and ingested substances that have been modified by anatomical structures as they pass through the body. + body fluid or substance + body substance + organism substance + portion of body substance + portion of organism substance + organism substance + + + + + + + + + Anatomical entity that has mass. + material anatomical entity + + + + + + + + + Anatomical structure that is an individual member of a species and consists of more than one cell. + multi-cellular organism + organism + whole organism + animal + Koerper + body + whole body + multicellular organism + + + + + + + + Biological entity that is either an individual member of a biological species or constitutes the structural organization of an individual member of a biological species. + anatomical entity + + + + + + + + + Portion of semisolid bodily waste discharged through the anus[MW,modified] + excreta + faeces + fecal material + fecal matter + matières fécales@fr + merde@fr + partie de la merde@fr + piece of shit + porción de mierda@en + portion of excrement + portion of faeces + portion of fecal material + portion of fecal matter + portion of feces + portionem cacas + stool + teil der fäkalien@de + cow dung + cow pat + dung + fewmet + frass + guano + portion of dung + portion of guano + portion of scat + scat + spraint + droppings + excrement + ordure + spoor + feces + + + + + + + + + An anatomical structure that has more than one cell as a part. + multicellular structure + multicellular anatomical structure + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/imports/uberon_import.obo b/imports/uberon_import.obo index aa2c1070a8..0621d7b829 100644 --- a/imports/uberon_import.obo +++ b/imports/uberon_import.obo @@ -1318,6 +1318,16 @@ synonym: "respiratory system organ" EXACT [] is_a: UBERON:0000062 ! organ relationship: BFO:0000050 UBERON:0001004 ! part of respiratory system +[Term] +id: UBERON:0000173 +name: amniotic fluid +def: "Amniotic fluid is a bodily fluid consisting of watery liquid surrounding and cushioning a growing fetus within the amnion. It allows the fetus to move freely without the walls of the uterus being too tight against its body. Buoyancy is also provided. The composition of the fluid changes over the course of gestation. Initially, amniotic fluid is similar to maternal plasma, mainly water with electrolytes. As the fetus develops, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid." [] +synonym: "acqua amnii" RELATED [] +synonym: "liquor amnii" RELATED [] +is_a: UBERON:0000463 ! organism substance +relationship: RO:0001025 UBERON:0000305 ! located_in amnion +relationship: RO:0002221 UBERON:0000922 ! surrounds embryo + [Term] id: UBERON:0000174 name: excreta @@ -1405,6 +1415,18 @@ synonym: "ligament organ" EXACT [] is_a: UBERON:0000062 ! organ relationship: BFO:0000051 UBERON:0002384 ! has part connective tissue +[Term] +id: UBERON:0000301 +name: amniotic cavity +def: "A closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds." [] +synonym: "cavitas amniotica" RELATED [] +is_a: UBERON:0012466 ! extraembryonic cavity +is_a: UBERON:0012467 ! enclosed anatomical space +relationship: RO:0001019 UBERON:0000173 ! contains amniotic fluid +relationship: RO:0002202 UBERON:0000087 ! develops_from inner cell mass +relationship: RO:0002202 UBERON:0009742 ! develops_from proamniotic cavity +relationship: RO:0002219 UBERON:0005971 ! surrounded_by amniotic fold + [Term] id: UBERON:0000304 name: tendon sheath @@ -1418,6 +1440,20 @@ relationship: BFO:0000051 UBERON:0011233 ! has part synovial membrane of synovia relationship: BFO:0000051 UBERON:0011234 ! has part fibrous membrane of synovial tendon sheath relationship: RO:0002007 UBERON:0000043 ! bounding layer of tendon +[Term] +id: UBERON:0000305 +name: amnion +def: "the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected" [] +synonym: "amnios" EXACT [] +is_a: UBERON:0004120 ! mesoderm-derived structure +is_a: UBERON:0005631 ! extraembryonic membrane +relationship: BFO:0000051 UBERON:0003254 ! has part amniotic ectoderm +relationship: BFO:0000051 UBERON:0003262 ! has part amniotic mesoderm +relationship: RO:0002202 UBERON:0005971 ! develops_from amniotic fold +relationship: RO:0002221 UBERON:0000922 ! surrounds embryo +relationship: RO:0002254 UBERON:0000924 ! has developmental contribution from ectoderm +relationship: RO:0002254 UBERON:0004871 ! has developmental contribution from somatic layer of lateral plate mesoderm + [Term] id: UBERON:0000307 name: blastula @@ -8291,6 +8327,21 @@ intersection_of: UBERON:0000029 ! lymph node intersection_of: BFO:0000050 UBERON:0008337 ! part of inguinal part of abdomen relationship: BFO:0000050 UBERON:0008337 ! part of inguinal part of abdomen +[Term] +id: UBERON:0001543 +name: popliteal lymph node +def: "the lymph nodes which drain the legs; contained in the popliteal fossa" [] +synonym: "popliteal glands" RELATED [] +synonym: "popliteal lymph glands" RELATED [] +synonym: "popliteal lymph node" RELATED [] +is_a: UBERON:0003968 ! peripheral lymph node +is_a: UBERON:0016398 ! lymph node of lower limb +intersection_of: UBERON:0000029 ! lymph node +intersection_of: BFO:0000050 UBERON:0001485 ! part of knee joint +intersection_of: RO:0001025 UBERON:0016400 ! located_in infrapatellar fat pad +relationship: BFO:0000050 UBERON:0001485 ! part of knee joint +relationship: RO:0001025 UBERON:0016400 ! located_in infrapatellar fat pad + [Term] id: UBERON:0001549 name: dorsal metatarsal vein @@ -16315,6 +16366,18 @@ intersection_of: RO:0002179 UBERON:0001255 ! drains urinary bladder relationship: RO:0002179 UBERON:0001255 ! drains urinary bladder relationship: RO:0002376 UBERON:0001317 ! tributary_of internal iliac vein +[Term] +id: UBERON:0002461 +name: anterior abdominal wall muscle +def: "Any skeletal muscle organ that is part of a anterior abdominal wall. Examples: the obliques, pyramidalis and transversus abdominus" [] +synonym: "muscle of anterior abdominal wall" EXACT [] +synonym: "ventral abdominal wall muscle" EXACT [] +is_a: UBERON:0002378 ! muscle of abdomen +intersection_of: UBERON:0014892 ! skeletal muscle organ +intersection_of: BFO:0000050 UBERON:0006635 ! part of anterior abdominal wall +relationship: BFO:0000050 UBERON:0006635 ! part of anterior abdominal wall +relationship: RO:0002202 UBERON:0006210 ! develops_from body-wall mesenchyme + [Term] id: UBERON:0002465 name: lymphoid system @@ -18492,6 +18555,19 @@ intersection_of: UBERON:0001560 ! neck of organ intersection_of: BFO:0000050 UBERON:0002228 ! part of rib relationship: BFO:0000050 UBERON:0010388 ! part of proximal segment of rib +[Term] +id: UBERON:0003254 +name: amniotic ectoderm +synonym: "amnion ectoderm" EXACT [] +synonym: "amnion epithelium" RELATED [] +synonym: "amnionic ectoderm" EXACT [] +is_a: UBERON:0000478 ! extraembryonic structure +is_a: UBERON:0000490 ! unilaminar epithelium +is_a: UBERON:0005292 ! extraembryonic tissue +is_a: UBERON:0012275 ! meso-epithelium +relationship: BFO:0000050 UBERON:0000305 ! part of amnion +relationship: RO:0002202 UBERON:0002532 ! develops_from epiblast (generic) + [Term] id: UBERON:0003257 name: yolk sac endoderm @@ -18552,6 +18628,24 @@ intersection_of: BFO:0000050 UBERON:0003091 ! part of thyroid primordium relationship: BFO:0000050 UBERON:0003091 ! part of thyroid primordium relationship: RO:0002202 UBERON:0007690 ! develops_from early pharyngeal endoderm +[Term] +id: UBERON:0003262 +name: amniotic mesoderm +def: "A mesenchyme that is part of a amnion." [] +synonym: "amnion mesenchyme" EXACT [] +synonym: "amnion mesoderm" EXACT [] +synonym: "amnionic mesenchyme" RELATED [] +synonym: "amnionic mesoderm" EXACT [] +synonym: "amnionic mesoderm" RELATED [] +synonym: "mesenchyme of amnion" EXACT [] +is_a: UBERON:0000478 ! extraembryonic structure +is_a: UBERON:0007524 ! dense mesenchyme tissue +is_a: UBERON:0010333 ! extraembryonic membrane mesenchyme +intersection_of: UBERON:0003104 ! mesenchyme +intersection_of: BFO:0000050 UBERON:0000305 ! part of amnion +relationship: BFO:0000050 UBERON:0000305 ! part of amnion +relationship: RO:0002202 UBERON:0005728 ! develops_from extraembryonic mesoderm + [Term] id: UBERON:0003265 name: chorionic mesenchyme @@ -20214,6 +20308,34 @@ is_a: UBERON:0003585 ! dermis connective tissue intersection_of: UBERON:0001013 ! adipose tissue intersection_of: BFO:0000050 UBERON:0002067 ! part of dermis +[Term] +id: UBERON:0003427 +name: abdominal fat pad +def: "The encapsulated adipose tissue in the abdomen." [] +synonym: "abdomen fat pad" EXACT [] +synonym: "abdominal fat depot" EXACT [] +synonym: "fat pad of abdomen" EXACT [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0007808 ! adipose tissue of abdominal region +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0000916 ! part of abdomen + +[Term] +id: UBERON:0003428 +name: gonadal fat pad +def: "The encapsulated adipose tissue associated with the ovaries or testes." [] +synonym: "fat pad of gonad" EXACT [] +synonym: "fat pad of gonads" EXACT [] +synonym: "gonad fat pad" EXACT [] +synonym: "gonad-associated fat pad" EXACT [] +synonym: "gonadal fat depot" EXACT [] +synonym: "gonadal fat pad" EXACT [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0005156 ! reproductive structure +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0000991 ! part of gonad +relationship: BFO:0000050 UBERON:0000991 ! part of gonad + [Term] id: UBERON:0003429 name: abdomen nerve @@ -24753,6 +24875,13 @@ def: "Any endothelium that has the quality of being cylindrical [Automatically g is_a: UBERON:0001986 ! endothelium is_a: UBERON:0003914 ! epithelial tube +[Term] +id: UBERON:0003916 +name: fat pad +def: "A mass of closely packed fat cells (adipose tissue) surrounded by fibrous tissue septa[TMD]." [] +synonym: "fat body" RELATED [] +is_a: UBERON:0001013 ! adipose tissue + [Term] id: UBERON:0003918 name: kidney mesenchyme @@ -39077,6 +39206,15 @@ intersection_of: UBERON:0001637 ! artery intersection_of: RO:0002176 UBERON:0001637 {minCardinality="2", maxCardinality="2"} ! connects artery relationship: RO:0002176 UBERON:0001637 ! connects artery +[Term] +id: UBERON:0006349 +name: epigastric artery +def: "An external iliac artery branch that supplies blood to the anterior abdominal wall." [] +is_a: UBERON:0001637 ! artery +intersection_of: UBERON:0001637 ! artery +intersection_of: RO:0002178 UBERON:0006635 ! supplies anterior abdominal wall +relationship: RO:0002178 UBERON:0006635 ! supplies anterior abdominal wall + [Term] id: UBERON:0006355 name: superior vesical vein @@ -39085,6 +39223,15 @@ intersection_of: UBERON:0001638 ! vein intersection_of: RO:0002179 UBERON:0000056 ! drains ureter relationship: RO:0002179 UBERON:0000056 ! drains ureter +[Term] +id: UBERON:0006356 +name: epigastric vein +def: "A vein that drains the anterior abdominal wall." [] +is_a: UBERON:0001638 ! vein +intersection_of: UBERON:0001638 ! vein +intersection_of: RO:0002179 UBERON:0006635 ! drains anterior abdominal wall +relationship: RO:0002179 UBERON:0006635 ! drains anterior abdominal wall + [Term] id: UBERON:0006435 name: os penis @@ -39586,6 +39733,14 @@ synonym: "processus coracoideus" RELATED [] is_a: UBERON:0005913 ! zone of bone organ relationship: BFO:0000050 UBERON:0006849 ! part of scapula +[Term] +id: UBERON:0006635 +name: anterior abdominal wall +def: "The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus)." [] +synonym: "ventral abdominal wall" EXACT [] +is_a: UBERON:0000475 ! organism subdivision +relationship: BFO:0000050 UBERON:0003697 ! part of abdominal wall + [Term] id: UBERON:0006642 name: muscle layer of oviduct @@ -39804,6 +39959,20 @@ relationship: BFO:0000050 UBERON:0001103 ! part of diaphragm relationship: RO:0002371 UBERON:0002359 ! attaches_to fibrous pericardium relationship: RO:0002495 UBERON:0006239 ! immediate transformation of future central tendon +[Term] +id: UBERON:0006671 +name: orbital fat pad +def: "A fat pad that is part of a orbital region." [] +synonym: "intraorbital fat pad" EXACT [] +synonym: "orbital fat" EXACT [] +synonym: "orbital fat body" EXACT [] +synonym: "retrobulbar fat" EXACT [] +is_a: UBERON:0003566 ! head connective tissue +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0004088 ! part of orbital region +relationship: BFO:0000050 UBERON:0035639 ! part of ocular adnexa + [Term] id: UBERON:0006675 name: venous valve @@ -43773,6 +43942,16 @@ synonym: "true apocrine gland" EXACT [] is_a: UBERON:0002365 ! exocrine gland disjoint_from: UBERON:0010243 ! merocrine gland +[Term] +id: UBERON:0008982 +name: fascia +def: "A dense regular connective tissue that that connects muscles together[WP, modified]." [] +synonym: "fascia cluster" EXACT [] +is_a: UBERON:0007846 ! dense regular connective tissue +relationship: BFO:0000050 UBERON:0002204 ! part of musculoskeletal system +relationship: RO:0002176 UBERON:0001630 ! connects muscle organ +relationship: RO:0002176 UBERON:0001630 {minCardinality="2", maxCardinality="2"} ! connects muscle organ + [Term] id: UBERON:0008987 name: renal parenchyma @@ -45394,6 +45573,13 @@ relationship: BFO:0000050 UBERON:0003929 ! part of digestive tract epithelium relationship: BFO:0000050 UBERON:0008814 ! part of pharyngeal arch system relationship: RO:0002202 UBERON:0000925 ! develops_from endoderm +[Term] +id: UBERON:0009742 +name: proamniotic cavity +def: "The cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds" [] +is_a: UBERON:0002553 ! anatomical cavity +relationship: BFO:0000050 UBERON:0000922 ! part of embryo + [Term] id: UBERON:0009744 name: lymph node medullary sinus @@ -47862,6 +48048,65 @@ is_a: UBERON:0004121 ! ectoderm-derived structure relationship: BFO:0000050 UBERON:0000019 ! part of camera-type eye relationship: BSPO:0000108 UBERON:0022288 ! superficial_to surface of eyeball +[Term] +id: UBERON:0010410 +name: inguinal fat pad +def: "encapsulated adipose tissue found in the groin" [] +synonym: "fat depot of inguinal region" EXACT [] +synonym: "inguinal fat depot" EXACT [] +is_a: UBERON:0003838 ! abdominal segment connective tissue +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0008337 ! part of inguinal part of abdomen +relationship: BFO:0000050 UBERON:0008337 ! part of inguinal part of abdomen + +[Term] +id: UBERON:0010411 +name: retroperitoneal fat pad +def: "encapsulated adipose tissue found on the dorsal side of the peritoneum" [] +synonym: "retroperitoneal fat depot" EXACT [] +is_a: UBERON:0003427 ! abdominal fat pad +is_a: UBERON:0004120 ! mesoderm-derived structure +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0002358 ! part of peritoneum +relationship: BFO:0000050 UBERON:0002358 ! part of peritoneum +relationship: RO:0001025 UBERON:0003693 ! located_in retroperitoneal space + +[Term] +id: UBERON:0010412 +name: epididymal fat pad +def: "encapsulated adipose tissue associated with the epididymis" [] +synonym: "periepididymal fat pad" EXACT [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0004120 ! mesoderm-derived structure +is_a: UBERON:0005156 ! reproductive structure +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0001301 ! part of epididymis +relationship: BFO:0000050 UBERON:0001301 ! part of epididymis + +[Term] +id: UBERON:0010413 +name: parametrial fat pad +def: "encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament" [] +synonym: "parametrial adipose tissue" RELATED [] +synonym: "parametrial fat" RELATED [] +synonym: "parametrial fat depot" EXACT [] +is_a: UBERON:0014394 ! uterine fat pad +is_a: UBERON:0015143 ! mesenteric fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0010391 ! part of parametrium +relationship: BFO:0000050 UBERON:0010391 ! part of parametrium + +[Term] +id: UBERON:0010414 +name: omental fat pad +def: "encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon" [] +synonym: "omental fat depot" EXACT [] +is_a: UBERON:0010411 ! retroperitoneal fat pad +intersection_of: UBERON:0003427 ! abdominal fat pad +intersection_of: BFO:0000050 UBERON:0003688 ! part of omentum +relationship: BFO:0000050 UBERON:0003688 ! part of omentum + [Term] id: UBERON:0010418 name: urethral opening @@ -51507,6 +51752,18 @@ intersection_of: BFO:0000050 UBERON:0002387 ! part of pes relationship: BFO:0000050 UBERON:0001445 ! part of skeleton of pes relationship: BFO:0000050 UBERON:0012142 ! part of pedal digitopodium region +[Term] +id: UBERON:0012167 +name: buccal fat pad +def: "The Buccal fat pad is one of several encapsulated fat masses in the cheek. It is a deep fat pad located on either side of the face between the buccinator muscle and several more superficial muscles. It should not be confused with the malar fat pad, which is directly below the skin of the cheek. It should also not be confused with jowl fat pads. It is implicated in the formation of hollow cheeks and the nasolabial fold, but not in the formation of jowls." [] +synonym: "Bichat's fat pad" EXACT [] +synonym: "cheek fat pad" EXACT [] +is_a: UBERON:0003566 ! head connective tissue +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0001567 ! part of cheek +relationship: BFO:0000050 UBERON:0001567 ! part of cheek + [Term] id: UBERON:0012168 name: umbilical cord blood @@ -51826,6 +52083,25 @@ intersection_of: BFO:0000050 UBERON:0011932 ! part of pilosebaceous unit intersection_of: BFO:0000050 UBERON:0012336 ! part of perianal skin relationship: BFO:0000050 UBERON:0012336 ! part of perianal skin +[Term] +id: UBERON:0012282 +name: mammary fat pad +def: "encapsulated adipose tissue associated with the mammary gland" [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0004180 ! mammary gland fat +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0001911 ! part of mammary gland + +[Term] +id: UBERON:0012283 +name: femoral fat pad +def: "encapsulated adipose tissue associated with the femur" [] +synonym: "femoral fat depot" EXACT [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0004266 ! upper leg connective tissue +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0000376 ! part of hindlimb stylopod + [Term] id: UBERON:0012287 name: Rathkes pouch epithelium @@ -52659,6 +52935,18 @@ intersection_of: UBERON:0000344 ! mucosa intersection_of: BFO:0000050 UBERON:0012652 ! part of colorectum relationship: BFO:0000050 UBERON:0012652 ! part of colorectum +[Term] +id: UBERON:0013069 +name: popliteal area +def: "A depression on the ventral side of the femur, at the knee joint, between the condyles." [] +synonym: "knee pit" RELATED [] +synonym: "popliteal fossa" EXACT [] +synonym: "popliteal region" RELATED [] +synonym: "popliteal space" RELATED [] +is_a: UBERON:0004120 ! mesoderm-derived structure +is_a: UBERON:0005055 ! zone of long bone +relationship: BFO:0000050 UBERON:0000981 ! part of femur + [Term] id: UBERON:0013118 name: sulcus of brain @@ -53088,6 +53376,27 @@ is_a: UBERON:0004702 ! respiratory system blood vessel endothelium intersection_of: UBERON:0004638 ! blood vessel endothelium intersection_of: BFO:0000050 UBERON:0002048 ! part of lung +[Term] +id: UBERON:0013491 +name: cervical fascia +def: "Any fascia tissue that is part of the neck region." [] +synonym: "fascia of neck" EXACT [] +is_a: UBERON:0003568 ! neck connective tissue +is_a: UBERON:0008982 ! fascia +intersection_of: UBERON:0008982 ! fascia +intersection_of: BFO:0000050 UBERON:0000974 ! part of neck + +[Term] +id: UBERON:0013493 +name: abdominal fascia +def: "A fascia that is part of a abdomen." [] +synonym: "endo-abdominopelvic fascia" EXACT [] +synonym: "fascia of abdomen" EXACT [] +is_a: UBERON:0003567 ! abdomen connective tissue +is_a: UBERON:0008982 ! fascia +intersection_of: UBERON:0008982 ! fascia +intersection_of: BFO:0000050 UBERON:0000916 ! part of abdomen + [Term] id: UBERON:0013498 name: vestibulo-cochlear VIII ganglion complex @@ -53497,6 +53806,60 @@ intersection_of: UBERON:0004111 ! anatomical conduit intersection_of: BFO:0000050 UBERON:0006268 ! part of notochordal process relationship: BFO:0000050 UBERON:0006268 ! part of notochordal process +[Term] +id: UBERON:0013705 +name: fascia of Scarpa +def: "The deep layer (fascia of Scarpa) is a layer of the anterior abdominal wall." [] +synonym: "Colles fascia" RELATED [] +synonym: "Colles' fascia" EXACT [] +synonym: "deep layer of superficial fascia of abdomen" EXACT [] +synonym: "fascia of Scarpa" RELATED [] +synonym: "membranous layer of subcutaneous tissue of abdomen" EXACT [] +synonym: "membranous layer of superficial fascia of abdomen" EXACT [] +synonym: "Scarpa's fascia" EXACT [] +synonym: "Scarpa's fascia" RELATED [] +synonym: "stratum membranosum telae subcutaneae abdominis" EXACT [] +is_a: UBERON:0003427 ! abdominal fat pad +is_a: UBERON:0003916 ! fat pad +relationship: BFO:0000050 UBERON:0006635 ! part of anterior abdominal wall + +[Term] +id: UBERON:0013718 +name: dartos muscle +def: "The dartos fascia is a fat-free layer of smooth muscular fiber outside the external spermatic fascia but below the skin. It is a continuation of Scarpa's Fascia which is a membranous layer of the subcutaneous tissue in the abdominal wall." [] +synonym: "dartos muscle" RELATED [] +synonym: "dartos tunic" RELATED [] +synonym: "tunica dartos" RELATED [] +is_a: UBERON:0008982 ! fascia +relationship: RO:0002150 UBERON:0013705 ! continuous_with fascia of Scarpa + +[Term] +id: UBERON:0013719 +name: dartos muscle of scrotum +def: "A dartos muscle that is part of a male reproductive system." [] +synonym: "dartos layer of scrotum" EXACT [] +synonym: "dartos tunic" RELATED [] +is_a: UBERON:0004120 ! mesoderm-derived structure +is_a: UBERON:0005156 ! reproductive structure +is_a: UBERON:0013718 ! dartos muscle +intersection_of: UBERON:0013718 ! dartos muscle +intersection_of: BFO:0000050 UBERON:0000079 ! part of male reproductive system +relationship: BFO:0000050 UBERON:0001300 ! part of scrotum + +[Term] +id: UBERON:0013720 +name: dartos muscle of labia majora +def: "A dartos muscle that is part of a female reproductive system." [] +synonym: "dartos layer of labia" EXACT [] +synonym: "dartos muliebris" RELATED [] +is_a: UBERON:0004120 ! mesoderm-derived structure +is_a: UBERON:0004121 ! ectoderm-derived structure +is_a: UBERON:0005156 ! reproductive structure +is_a: UBERON:0013718 ! dartos muscle +intersection_of: UBERON:0013718 ! dartos muscle +intersection_of: BFO:0000050 UBERON:0000474 ! part of female reproductive system +relationship: BFO:0000050 UBERON:0004085 ! part of labium majora + [Term] id: UBERON:0013727 name: notochordal fluid @@ -53909,6 +54272,19 @@ intersection_of: UBERON:0001089 ! sweat intersection_of: RO:0003001 UBERON:0018232 ! produced_by axillary sweat gland relationship: RO:0003001 UBERON:0018232 ! produced_by axillary sweat gland +[Term] +id: UBERON:0014394 +name: uterine fat pad +def: "Encapsulated adipose tissue associated with the uterus" [] +synonym: "peri-uterine fat pad" RELATED [] +synonym: "periuterine fat pad" RELATED [] +synonym: "uterine fat depot" EXACT [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0005156 ! reproductive structure +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0000995 ! part of uterus +relationship: BFO:0000050 UBERON:0000995 ! part of uterus + [Term] id: UBERON:0014395 name: proximal mesopodial bone @@ -54031,6 +54407,16 @@ intersection_of: UBERON:0001808 ! parasympathetic ganglion intersection_of: extends_fibers_into UBERON:0002008 ! cardiac nerve plexus relationship: extends_fibers_into UBERON:0002008 ! cardiac nerve plexus +[Term] +id: UBERON:0014464 +name: renal fat pad +def: "Encapsulated adipose tissue associated with the kidney" [] +synonym: "perirenal fat pad" RELATED [] +is_a: UBERON:0003427 ! abdominal fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0002113 ! part of kidney +relationship: BFO:0000050 UBERON:0002113 ! part of kidney + [Term] id: UBERON:0014466 name: subarachnoid fissure @@ -55638,6 +56024,31 @@ intersection_of: UBERON:0002384 ! connective tissue intersection_of: BFO:0000050 UBERON:0002367 ! part of prostate gland relationship: BFO:0000050 UBERON:0002367 ! part of prostate gland +[Term] +id: UBERON:0015142 +name: falciform fat +def: "A large fat pad that is located at the base of the abdominal wall, in the falciform ligament of the liver." [] +synonym: "falciform fat depot" RELATED [] +synonym: "falciform ligament fat pad" RELATED [] +is_a: UBERON:0000077 ! mixed endoderm/mesoderm-derived structure +is_a: UBERON:0003427 ! abdominal fat pad +is_a: UBERON:0005291 ! embryonic tissue +is_a: UBERON:0015143 ! mesenteric fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0001247 ! part of falciform ligament +relationship: BFO:0000050 UBERON:0001247 ! part of falciform ligament + +[Term] +id: UBERON:0015143 +name: mesenteric fat pad +def: "Encapsulated adipose tissue associated with the mesentery" [] +synonym: "mesenteric fat depot" EXACT [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0004120 ! mesoderm-derived structure +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0002095 ! part of mesentery +relationship: BFO:0000050 UBERON:0002095 ! part of mesentery + [Term] id: UBERON:0015144 name: autopod hair @@ -55940,6 +56351,25 @@ intersection_of: UBERON:0000029 ! lymph node intersection_of: BFO:0000050 UBERON:0002072 ! part of hypodermis relationship: BFO:0000050 UBERON:0002072 ! part of hypodermis +[Term] +id: UBERON:0015454 +name: pancreatic fat pad +def: "A fat pad that is part of a pancreas." [] +is_a: UBERON:0003586 ! trunk connective tissue +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0001264 ! part of pancreas +relationship: BFO:0000050 UBERON:0001264 ! part of pancreas + +[Term] +id: UBERON:0015458 +name: mediastinal fat pad +def: "A fat pad that is part of a mediastinum." [] +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: RO:0001025 UBERON:0003728 ! located_in mediastinum +relationship: RO:0001025 UBERON:0003728 ! located_in mediastinum + [Term] id: UBERON:0015474 name: axilla skin @@ -55963,6 +56393,15 @@ intersection_of: UBERON:0000014 ! zone of skin intersection_of: BFO:0000050 UBERON:0007827 ! part of external nose relationship: BFO:0000050 UBERON:0007827 ! part of external nose +[Term] +id: UBERON:0015477 +name: axillary fat pad +def: "A fat pad that is part of a axilla." [] +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0009472 ! part of axilla +relationship: BFO:0000050 UBERON:0009472 ! part of axilla + [Term] id: UBERON:0015479 name: scrotum skin @@ -56329,6 +56768,16 @@ intersection_of: UBERON:0000029 ! lymph node intersection_of: BFO:0000050 UBERON:0002102 ! part of forelimb relationship: BFO:0000050 UBERON:0002102 ! part of forelimb +[Term] +id: UBERON:0016400 +name: infrapatellar fat pad +def: "The infrapatellar fat pad, also known as Hoffa's fat pad, is a cylindrical piece of fat that is situated under and behind the patella bone within the knee." [] +is_a: UBERON:0003577 ! knee connective tissue +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0001465 ! part of knee +relationship: RO:0001025 UBERON:0013069 ! located_in popliteal area + [Term] id: UBERON:0016402 name: mesocolic lymph node @@ -57190,6 +57639,16 @@ intersection_of: UBERON:0001224 ! renal pelvis intersection_of: BFO:0000050 UBERON:0001222 ! part of right ureter relationship: BFO:0000050 UBERON:0001222 ! part of right ureter +[Term] +id: UBERON:0018132 +name: tail fat pad +def: "Encapsulated adipose tissue that is part of a tail." [] +synonym: "tail fat depot" EXACT [] +is_a: UBERON:0003599 ! tail connective tissue +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0007812 ! part of post-anal tail + [Term] id: UBERON:0018135 name: fibrocollagenous connective tissue @@ -59151,6 +59610,14 @@ intersection_of: UBERON:0003665 ! post-anal tail muscle intersection_of: RO:0002371 UBERON:0010742 ! attaches_to bone of pelvic complex relationship: RO:0002371 UBERON:0010742 ! attaches_to bone of pelvic complex +[Term] +id: UBERON:0035096 +name: fascia of tail +is_a: UBERON:0003599 ! tail connective tissue +is_a: UBERON:0008982 ! fascia +intersection_of: UBERON:0008982 ! fascia +intersection_of: BFO:0000050 UBERON:0007812 ! part of post-anal tail + [Term] id: UBERON:0035102 name: transverse process of caudal vertebra diff --git a/imports/uberon_import.owl b/imports/uberon_import.owl index 43fd01acb6..e974b3ad41 100644 --- a/imports/uberon_import.owl +++ b/imports/uberon_import.owl @@ -4309,6 +4309,30 @@ + + + + + + + + + + + + + + + + + Amniotic fluid is a bodily fluid consisting of watery liquid surrounding and cushioning a growing fetus within the amnion. It allows the fetus to move freely without the walls of the uterus being too tight against its body. Buoyancy is also provided. The composition of the fluid changes over the course of gestation. Initially, amniotic fluid is similar to maternal plasma, mainly water with electrolytes. As the fetus develops, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid. + acqua amnii + liquor amnii + amniotic fluid + + + + @@ -4492,6 +4516,42 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds. + cavitas amniotica + amniotic cavity + + + + @@ -4533,6 +4593,54 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected + amnios + amnion + + + + @@ -20324,6 +20432,47 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + the lymph nodes which drain the legs; contained in the popliteal fossa + popliteal glands + popliteal lymph glands + popliteal lymph node + popliteal lymph node + + + + @@ -38857,6 +39006,41 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any skeletal muscle organ that is part of a anterior abdominal wall. Examples: the obliques, pyramidalis and transversus abdominus + muscle of anterior abdominal wall + ventral abdominal wall muscle + anterior abdominal wall muscle + + + + @@ -43819,6 +44003,33 @@ + + + + + + + + + + + + + + + + + + + + amnion ectoderm + amnionic ectoderm + amnion epithelium + amniotic ectoderm + + + + @@ -43971,6 +44182,47 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A mesenchyme that is part of a amnion. + amnion mesenchyme + amnion mesoderm + amnionic mesoderm + mesenchyme of amnion + amnionic mesenchyme + amnionic mesoderm + amniotic mesoderm + + + + @@ -47775,6 +48027,65 @@ + + + + + + + + + + + + + + + + + The encapsulated adipose tissue in the abdomen. + abdomen fat pad + abdominal fat depot + fat pad of abdomen + abdominal fat pad + + + + + + + + + + + + + + + + + + + + + + + + + + + The encapsulated adipose tissue associated with the ovaries or testes. + fat pad of gonad + fat pad of gonads + gonad fat pad + gonad-associated fat pad + gonadal fat depot + gonadal fat pad + gonadal fat pad + + + + @@ -57655,6 +57966,17 @@ + + + + + A mass of closely packed fat cells (adipose tissue) surrounded by fibrous tissue septa[TMD]. + fat body + fat pad + + + + @@ -91045,6 +91367,33 @@ + + + + + + + + + + + + + + + + + + + + + + An external iliac artery branch that supplies blood to the anterior abdominal wall. + epigastric artery + + + + @@ -91071,6 +91420,33 @@ + + + + + + + + + + + + + + + + + + + + + + A vein that drains the anterior abdominal wall. + epigastric vein + + + + @@ -92355,6 +92731,23 @@ + + + + + + + + + + + The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus). + ventral abdominal wall + anterior abdominal wall + + + + @@ -92834,6 +93227,38 @@ + + + + + + + + + + + + + + + + + + + + + + + A fat pad that is part of a orbital region. + intraorbital fat pad + orbital fat + orbital fat body + retrobulbar fat + orbital fat pad + + + + @@ -102820,6 +103245,45 @@ + + + + + + + + + + 2 + + + + + 2 + + + + + + + + + + + + + + + + + + A dense regular connective tissue that that connects muscles together[WP, modified]. + fascia cluster + fascia + + + + @@ -107131,6 +107595,22 @@ + + + + + + + + + + + The cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds + proamniotic cavity + + + + @@ -113462,6 +113942,160 @@ + + + + + + + + + + + + + + + + + + + + + + + encapsulated adipose tissue found in the groin + fat depot of inguinal region + inguinal fat depot + inguinal fat pad + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + encapsulated adipose tissue found on the dorsal side of the peritoneum + retroperitoneal fat depot + retroperitoneal fat pad + + + + + + + + + + + + + + + + + + + + + + + + + + + + encapsulated adipose tissue associated with the epididymis + periepididymal fat pad + epididymal fat pad + + + + + + + + + + + + + + + + + + + + + + + + + + + encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament + parametrial fat depot + parametrial adipose tissue + parametrial fat + parametrial fat pad + + + + + + + + + + + + + + + + + + + + + + + + + + encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon + omental fat depot + omental fat pad + + + + @@ -122702,6 +123336,36 @@ + + + + + + + + + + + + + + + + + + + + + + + The Buccal fat pad is one of several encapsulated fat masses in the cheek. It is a deep fat pad located on either side of the face between the buccinator muscle and several more superficial muscles. It should not be confused with the malar fat pad, which is directly below the skin of the cheek. It should also not be confused with jowl fat pads. It is implicated in the formation of hollow cheeks and the nasolabial fold, but not in the formation of jowls. + Bichat's fat pad + cheek fat pad + buccal fat pad + + + + @@ -123510,6 +124174,51 @@ + + + + + + + + + + + + + + + + + encapsulated adipose tissue associated with the mammary gland + mammary fat pad + + + + + + + + + + + + + + + + + + + + + encapsulated adipose tissue associated with the femur + femoral fat depot + femoral fat pad + + + + @@ -125578,6 +126287,27 @@ + + + + + + + + + + + + A depression on the ventral side of the femur, at the knee joint, between the condyles. + popliteal fossa + knee pit + popliteal region + popliteal space + popliteal area + + + + @@ -126650,6 +127380,53 @@ + + + + + + + + + + + + + + + + + Any fascia tissue that is part of the neck region. + fascia of neck + cervical fascia + + + + + + + + + + + + + + + + + + + + + A fascia that is part of a abdomen. + endo-abdominopelvic fascia + fascia of abdomen + abdominal fascia + + + + @@ -127704,6 +128481,114 @@ + + + + + + + + + + + + The deep layer (fascia of Scarpa) is a layer of the anterior abdominal wall. + Colles' fascia + Scarpa's fascia + deep layer of superficial fascia of abdomen + membranous layer of subcutaneous tissue of abdomen + membranous layer of superficial fascia of abdomen + stratum membranosum telae subcutaneae abdominis + Colles fascia + Scarpa's fascia + fascia of Scarpa + fascia of Scarpa + + + + + + + + + + + + + + + The dartos fascia is a fat-free layer of smooth muscular fiber outside the external spermatic fascia but below the skin. It is a continuation of Scarpa's Fascia which is a membranous layer of the subcutaneous tissue in the abdominal wall. + dartos muscle + dartos tunic + tunica dartos + dartos muscle + + + + + + + + + + + + + + + + + + + + + + + + + + + + A dartos muscle that is part of a male reproductive system. + dartos layer of scrotum + dartos tunic + dartos muscle of scrotum + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A dartos muscle that is part of a female reproductive system. + dartos layer of labia + dartos muliebris + dartos muscle of labia majora + + + + @@ -128738,6 +129623,37 @@ + + + + + + + + + + + + + + + + + + + + + + + Encapsulated adipose tissue associated with the uterus + uterine fat depot + peri-uterine fat pad + periuterine fat pad + uterine fat pad + + + + @@ -129039,6 +129955,34 @@ + + + + + + + + + + + + + + + + + + + + + + Encapsulated adipose tissue associated with the kidney + perirenal fat pad + renal fat pad + + + + @@ -133100,6 +134044,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + A large fat pad that is located at the base of the abdominal wall, in the falciform ligament of the liver. + falciform fat depot + falciform ligament fat pad + falciform fat + + + + + + + + + + + + + + + + + + + + + + + + + + + Encapsulated adipose tissue associated with the mesentery + mesenteric fat depot + mesenteric fat pad + + + + @@ -133864,6 +134869,61 @@ + + + + + + + + + + + + + + + + + + + + + + + A fat pad that is part of a pancreas. + pancreatic fat pad + + + + + + + + + + + + + + + + + + + + + + + + + + A fat pad that is part of a mediastinum. + mediastinal fat pad + + + + @@ -133923,6 +134983,33 @@ + + + + + + + + + + + + + + + + + + + + + + A fat pad that is part of a axilla. + axillary fat pad + + + + @@ -134886,6 +135973,34 @@ + + + + + + + + + + + + + + + + + + + + + + + The infrapatellar fat pad, also known as Hoffa's fat pad, is a cylindrical piece of fat that is situated under and behind the patella bone within the knee. + infrapatellar fat pad + + + + @@ -137145,6 +138260,29 @@ + + + + + + + + + + + + + + + + + Encapsulated adipose tissue that is part of a tail. + tail fat depot + tail fat pad + + + + @@ -142491,6 +143629,27 @@ + + + + + + + + + + + + + + + + + fascia of tail + + + + diff --git a/src/ontology/Makefile b/src/ontology/Makefile index c2e7701d42..4eb600108a 100644 --- a/src/ontology/Makefile +++ b/src/ontology/Makefile @@ -54,7 +54,7 @@ all: test all_artefacts # ---------------------------------------- # Artefacts # ---------------------------------------- -ONTOLOGY_IMPORTS = uberon cl go pato ro hp mf ncbitaxon chebi envo ecto hgnc foodon +ONTOLOGY_IMPORTS = uberon cl go pato ro hp mf oba ncbitaxon chebi envo hgnc foodon IMPORT_ROOTS = $(patsubst %, imports/%_import, $(ONTOLOGY_IMPORTS)) imports/equivalencies IMPORT_FILES = $(foreach n,$(IMPORT_ROOTS), $(n).owl $(n).obo $(n).json) imports/axioms.owl IMPORT_FILES_OWL = $(foreach n,$(IMPORT_ROOTS), $(n).owl) imports/axioms.owl @@ -64,7 +64,7 @@ SUBSET_ROOTS = $(patsubst %, subsets/%, $(SUBSETS)) SUBSET_FILES = $(foreach n,$(SUBSET_ROOTS), $(n).owl $(n).obo $(n).json) -MAIN_PRODUCTS = $(ONT) $(ONT)-component +MAIN_PRODUCTS = $(ONT) $(ONT)-base MAIN_FILES = $(foreach n,$(MAIN_PRODUCTS), $(n).owl $(n).obo $(n).json) ARTEFACTS = \ $(IMPORT_FILES) \ @@ -72,6 +72,8 @@ ARTEFACTS = \ $(REPORT_FILES) \ $(SUBSET_FILES) +ASSETS = $(MAIN_FILES) $(SUBSET_FILES) + list_artefacts: echo $(ARTEFACTS) du -sh $(ARTEFACTS) @@ -87,7 +89,7 @@ all_artefacts: all_reports $(ARTEFACTS) #all: test all_imports all_reports all_equivalencies all_subsets imports/equivalencies.obo $(ONT).owl $(ONT).obo $(ONT).json pre/$(ONT).owl pre/$(ONT).obo pre/$(ONT).json extid/$(ONT).owl extid/$(ONT).obo extid/$(ONT).json $(ONT)-merged.owl -test: debug.owl mondo-edit.owl sparql_test_edit sparql_test_main_owl sparql_test_main_obo test_nomerge +test: roundtrip.obo debug.owl mondo-edit.owl sparql_test_edit sparql_test_main_owl sparql_test_main_obo test_nomerge # ---------------------------------------- @@ -106,6 +108,9 @@ osf_upload: prepare_release osf_upload_direct osf_upload_direct: cd ../.. && $(OSF_UPLOAD) -f -r target/ current/ && $(OSF_UPLOAD) -f -r target/ releases/$(ISODATE) +deploy_assets_direct: + ls -alt $(ASSETS) + ../utils/make-release-assets.py --release v$(ISODATE) $(ASSETS) # ---------------------------------------- # Main release targets @@ -195,7 +200,7 @@ $(ONT)-merged.owl: $(ONT).owl # owltools --use-catalog $< -o -f obo $(ONT).obo.tmp && mv $(ONT).obo.tmp $@ %.json: %.owl - owltools --use-catalog $< -o -f json $(ONT).json.tmp && mv $(ONT).json.tmp $@ + owltools --use-catalog $< -o -f json $@.json.tmp && mv $@.json.tmp $@ # $(ROBOT) convert -i $< -f json -o $(ONT).json.tmp && mv $(ONT).json.tmp $@ # ensure that inference including equivalencies does not result in merging any classes in MONDO. @@ -301,9 +306,15 @@ td: INF: mondo-edit.obo owltools --use-catalog mondo-edit.obo --assert-inferred-subclass-axioms --always-assert-super-classes --keepRedundant --markIsInferred --merge-axiom-annotations -o -f obo $@.tmp && grep -v ^owl-axioms $@.tmp | perl -npe 's@is_inferred="true"@source="OWLReasoner:Elk-$(ISODATE)"@' | egrep -v '^relationship:.*is_inferred' | obo-grep.pl --neg -r 'id: (UBERON|CL|ENVO|NCBITaxon|HP|PATO|CHEBI):' - > $@ +# normalize obo file +# note we use owltools-compat to ensure standard ordering NORM: mondo-edit.obo owltools-compat --use-catalog mondo-edit.obo --merge-axiom-annotations -o -f obo $@.tmp && mv $@.tmp $@ +# tests roundtripping +roundtrip.obo: mondo-edit.obo + owltools --use-catalog mondo-edit.obo -o -f obo $@.tmp && mv $@.tmp $@ + NEWAXTEST: mondo-edit.owl new.owl @@ -612,6 +623,10 @@ imports/tag-indirect.owl: mondo-edit.obo # Rewritten ext axioms # ---------------------------------------- +compare_all: compare_all_nd compare_all_d +compare_all_nd: $(patsubst %, compare/axioms-%-nd.obo, $(XD)) +compare_all_d: $(patsubst %, compare/axioms-%-d.obo, $(XD)) + # Generates synonym from labels compare/lsyns-%.owl: mirror/%.owl robot query -i $< --format ttl -c ../sparql/construct-related-synonym-from-label.sparql $@ @@ -623,31 +638,32 @@ compare/%-plus-lsyns.owl: mirror/%.owl compare/lsyns-%.owl .PRECIOUS: compare/%-plus-lsyns.owl # logical merge, no duplicate axioms -compare/axioms-%-nd.owl: compare/%-plus-lsyns.owl +compare/axioms-%-nd.owl: compare/%-plus-lsyns.owl mondo-edit.obo owltools --use-catalog mondo-edit.obo --copy-axioms -l -m imports/equivalencies.owl -s $< -n --set-ontology-id $(OBO)/mondo/$@ -o $@ .PRECIOUS: compare/axioms-%.owl # duplicate axioms, for provenance tagging -compare/axioms-%-d.owl: compare/%-plus-lsyns.owl +compare/axioms-%-d.owl: compare/%-plus-lsyns.owl mondo-edit.obo owltools --use-catalog mondo-edit.obo --copy-axioms -I -D -m imports/equivalencies.owl -s $< -n --set-ontology-id $(OBO)/mondo/$@ -o $@ .PRECIOUS: compare/axioms-%.owl # bring in strictly new literals in annotation axioms -compare/ann-axioms-%-new.owl: compare/%-plus-lsyns.owl +compare/ann-axioms-%-new.owl: compare/%-plus-lsyns.owl mondo-edit.obo owltools --use-catalog mondo-edit.obo --copy-axioms -x -m imports/equivalencies.owl -s $< -n --set-ontology-id $(OBO)/mondo/$@ -o $@ .PRECIOUS: compare/axioms-%.owl -compare/ann-axioms-ncit-disease-new.owl: mirror/ncit-disease.owl +compare/ann-axioms-ncit-disease-new.owl: mirror/ncit-disease.owl mondo-edit.obo owltools --use-catalog mondo-edit.obo --copy-axioms -x -m imports/equivalencies.owl -s $< -n --set-ontology-id $(OBO)/mondo/$@ -o $@ .PRECIOUS: compare/axioms-%.owl # all axioms -compare/axioms-%-all.owl: compare/%-plus-lsyns.owl +compare/axioms-%-all.owl: compare/%-plus-lsyns.owl mondo-edit.obo owltools --use-catalog mondo-edit.obo --copy-axioms -d -m imports/equivalencies.owl -s $< -n --set-ontology-id $(OBO)/mondo/$@ -o $@ .PRECIOUS: compare/axioms-%.owl +# tag axioms that are asserted but could be inferred compare/entailed.obo: mondo-edit.obo - owltools --use-catalog $< --remove-axiom-annotations --reasoner elk --silence-elk --tag-entailed-axioms --set-ontology-id $(OBO)/mondo/$@ -o -f obo $@ + owltools --use-catalog $< --remove-axiom-annotations --reasoner elk --silence-elk --tag-entailed-axioms --set-ontology-id $(OBO)/mondo/$@ -o -f obo $@.tmp && perl -npe 's@{source="direct"}@{source="MONDO:Redundant"}@' $@.tmp > $@ #compare/axioms-%.owl: # owltools --use-catalog mondo-edit.obo --copy-axioms -l -d -m imports/equivalencies.owl -s mirror/$*.owl -n --set-ontology-id $(OBO)/mondo/$@ -o $@ diff --git a/src/ontology/imports/cl_import.obo b/src/ontology/imports/cl_import.obo index 4de5cfd85f..c77a0ba17b 100644 --- a/src/ontology/imports/cl_import.obo +++ b/src/ontology/imports/cl_import.obo @@ -461,6 +461,20 @@ relationship: RO:0002215 GO:0097186 relationship: RO:0002220 UBERON:0001763 relationship: RO:0003000 UBERON:0001752 +[Term] +id: CL:0000062 +name: osteoblast +namespace: cell +def: "Skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell." [GO_REF:0000034, MESH:A11.329.629] +comment: non-encoded relationships from VSAO - capable_of_producing VSAO:0000020 +xref: BTO:0001593 +xref: CALOHA:TS-0720 +xref: FMA:66780 +is_a: CL:0000055 ! non-terminally differentiated cell +is_a: CL:0002320 ! connective tissue cell +relationship: RO:0002202 CL:0007010 ! preosteoblast +relationship: RO:0003000 UBERON:0008883 + [Term] id: CL:0000064 name: ciliated cell @@ -6166,6 +6180,19 @@ is_a: CL:0000055 ! non-terminally differentiated cell created_by: haendel creation_date: 2012-06-27T10:44:01Z +[Term] +id: CL:0007010 +name: preosteoblast +namespace: cell +def: "Skeletogenic cell that has the potential to transform into an osteoblast, and develops from neural crest or mesodermal cells." [GO_REF:0000034] +synonym: "osteoprogenitor cell" EXACT [] +is_a: CL:0000055 ! non-terminally differentiated cell +relationship: BFO:0000050 UBERON:0008883 +relationship: RO:0002202 CL:0000222 ! mesodermal cell +relationship: RO:0002202 CL:0000333 ! migratory neural crest cell +created_by: haendel +creation_date: 2012-06-27T10:57:21Z + [Term] id: CL:0008000 name: non-striated muscle cell diff --git a/src/ontology/imports/cl_import.owl b/src/ontology/imports/cl_import.owl index b7a7c8c453..2e0e48682d 100644 --- a/src/ontology/imports/cl_import.owl +++ b/src/ontology/imports/cl_import.owl @@ -1559,6 +1559,41 @@ + + + + + + + + + + + + + + + + + + Skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell. + BTO:0001593 + CALOHA:TS-0720 + FMA:66780 + cell + non-encoded relationships from VSAO - capable_of_producing VSAO:0000020 + osteoblast + + + + + Skeletogenic cell that secretes osteoid, is capable of producing mineralized (hydroxyapatite) matrix, is located adjacent to or within osteoid tissue, and arises from the transformation of a preosteoblast cell. + GO_REF:0000034 + MESH:A11.329.629 + + + + @@ -19257,6 +19292,44 @@ + + + + + + + + + + + + + + + + + + + + + + + Skeletogenic cell that has the potential to transform into an osteoblast, and develops from neural crest or mesodermal cells. + haendel + 2012-06-27T10:57:21Z + osteoprogenitor cell + cell + preosteoblast + + + + + Skeletogenic cell that has the potential to transform into an osteoblast, and develops from neural crest or mesodermal cells. + GO_REF:0000034 + + + + @@ -21731,6 +21804,12 @@ + + + + + + diff --git a/src/ontology/imports/cl_terms.txt b/src/ontology/imports/cl_terms.txt index a99dab4837..0320287e92 100644 --- a/src/ontology/imports/cl_terms.txt +++ b/src/ontology/imports/cl_terms.txt @@ -32,6 +32,7 @@ http://purl.obolibrary.org/obo/CL_0000056 http://purl.obolibrary.org/obo/CL_0000057 http://purl.obolibrary.org/obo/CL_0000058 http://purl.obolibrary.org/obo/CL_0000059 +http://purl.obolibrary.org/obo/CL_0000062 http://purl.obolibrary.org/obo/CL_0000064 http://purl.obolibrary.org/obo/CL_0000066 http://purl.obolibrary.org/obo/CL_0000067 @@ -435,6 +436,7 @@ http://purl.obolibrary.org/obo/CL_0005026 http://purl.obolibrary.org/obo/CL_0007000 http://purl.obolibrary.org/obo/CL_0007004 http://purl.obolibrary.org/obo/CL_0007009 +http://purl.obolibrary.org/obo/CL_0007010 http://purl.obolibrary.org/obo/CL_0008000 http://purl.obolibrary.org/obo/CL_0008001 http://purl.obolibrary.org/obo/CL_0008007 diff --git a/src/ontology/imports/ecto_import.owl b/src/ontology/imports/ecto_import.owl index 1e2a03b026..a96c4deb8a 100644 --- a/src/ontology/imports/ecto_import.owl +++ b/src/ontology/imports/ecto_import.owl @@ -48,6 +48,12 @@ + + + + + + @@ -95,6 +101,12 @@ + + + + + + + + + + + + + + + + + + + + + A exposure event arising as a result of personal behavior. + personal behavior exposure + personal behavior + personal behavior related exposure + + + + + + + + + + + + + + + + + + + + A exposure event arising as a result of alcohol consumption. + alcohol consumption exposure + alcohol consumption + alcohol consumption related exposure + + + + @@ -3082,6 +3140,29 @@ + + + + + + + + + + + + + + + + A exposure event arising as a result of behavior. + behavior exposure + behavior + behavior related exposure + + + + @@ -3110,6 +3191,32 @@ + + + + + + + + + + + + + + + + + A exposure event arising as a result of activity. + http://www.wikidata.org/entity/Q1914636 + activity exposure + activity + + activity related exposure + + + + @@ -3140,6 +3247,38 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + diff --git a/src/ontology/imports/go_import.obo b/src/ontology/imports/go_import.obo index 4359ee7c6f..0b1440aaba 100644 --- a/src/ontology/imports/go_import.obo +++ b/src/ontology/imports/go_import.obo @@ -63,6 +63,19 @@ synonym: "sulphur amino acid metabolism" EXACT [] is_a: GO:0006520 ! cellular amino acid metabolic process is_a: GO:0006790 ! sulfur compound metabolic process +[Term] +id: GO:0000098 +name: sulfur amino acid catabolic process +def: "The chemical reactions and pathways resulting in the breakdown of amino acids containing sulfur, comprising cysteine, methionine and selenocysteine." [] +synonym: "sulfur amino acid breakdown" EXACT [] +synonym: "sulfur amino acid catabolism" EXACT [] +synonym: "sulfur amino acid degradation" EXACT [] +synonym: "sulphur amino acid catabolic process" EXACT [] +synonym: "sulphur amino acid catabolism" EXACT [] +is_a: GO:0000096 ! sulfur amino acid metabolic process +is_a: GO:0009063 ! cellular amino acid catabolic process +is_a: GO:0044273 ! sulfur compound catabolic process + [Term] id: GO:0000122 name: negative regulation of transcription by RNA polymerase II @@ -362,6 +375,22 @@ is_a: GO:0033363 ! secretory granule organization is_a: GO:0070925 ! organelle assembly relationship: BFO:0000050 GO:0007286 ! part of spermatid development +[Term] +id: GO:0001677 +name: formation of translation initiation ternary complex +def: "Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator)." [] +synonym: "translation initiation ternary complex assembly" EXACT [] +is_a: GO:0022618 ! ribonucleoprotein complex assembly +relationship: BFO:0000050 GO:0006413 ! part of translational initiation + +[Term] +id: GO:0001678 +name: cellular glucose homeostasis +def: "A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment." [] +synonym: "cell glucose homeostasis" EXACT [] +is_a: GO:0042593 ! glucose homeostasis +is_a: GO:0055082 ! cellular chemical homeostasis + [Term] id: GO:0001755 name: neural crest cell migration @@ -748,6 +777,50 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0001909 ! positively regulates leukocyte mediated cytotoxicity relationship: RO:0002213 GO:0001909 ! positively regulates leukocyte mediated cytotoxicity +[Term] +id: GO:0001932 +name: regulation of protein phosphorylation +def: "Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein." [] +synonym: "regulation of protein amino acid phosphorylation" EXACT [] +is_a: GO:0031399 ! regulation of protein modification process +is_a: GO:0042325 ! regulation of phosphorylation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006468 ! regulates protein phosphorylation +relationship: RO:0002211 GO:0006468 ! regulates protein phosphorylation + +[Term] +id: GO:0001933 +name: negative regulation of protein phosphorylation +def: "Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein." [] +synonym: "down regulation of protein amino acid phosphorylation" EXACT [] +synonym: "down-regulation of protein amino acid phosphorylation" EXACT [] +synonym: "downregulation of protein amino acid phosphorylation" EXACT [] +synonym: "inhibition of protein amino acid phosphorylation" NARROW [] +synonym: "negative regulation of protein amino acid phosphorylation" EXACT [] +is_a: GO:0001932 ! regulation of protein phosphorylation +is_a: GO:0031400 ! negative regulation of protein modification process +is_a: GO:0042326 ! negative regulation of phosphorylation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006468 ! negatively regulates protein phosphorylation +relationship: RO:0002212 GO:0006468 ! negatively regulates protein phosphorylation + +[Term] +id: GO:0001934 +name: positive regulation of protein phosphorylation +def: "Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein." [] +synonym: "activation of protein amino acid phosphorylation" NARROW [] +synonym: "positive regulation of protein amino acid phosphorylation" EXACT [] +synonym: "stimulation of protein amino acid phosphorylation" NARROW [] +synonym: "up regulation of protein amino acid phosphorylation" EXACT [] +synonym: "up-regulation of protein amino acid phosphorylation" EXACT [] +synonym: "upregulation of protein amino acid phosphorylation" EXACT [] +is_a: GO:0001932 ! regulation of protein phosphorylation +is_a: GO:0031401 ! positive regulation of protein modification process +is_a: GO:0042327 ! positive regulation of phosphorylation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006468 ! positively regulates protein phosphorylation +relationship: RO:0002213 GO:0006468 ! positively regulates protein phosphorylation + [Term] id: GO:0001944 name: vasculature development @@ -861,6 +934,40 @@ is_a: GO:0009653 ! anatomical structure morphogenesis relationship: BFO:0000050 GO:0002088 ! part of lens development in camera-type eye relationship: BFO:0000050 GO:0048593 ! part of camera-type eye morphogenesis +[Term] +id: GO:0002181 +name: cytoplasmic translation +def: "The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein." [] +is_a: GO:0006412 ! translation + +[Term] +id: GO:0002182 +name: cytoplasmic translational elongation +def: "The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in the cytoplasm." [] +is_a: GO:0006414 ! translational elongation +intersection_of: GO:0006414 ! translational elongation +intersection_of: BFO:0000050 GO:0002181 ! part of cytoplasmic translation +relationship: BFO:0000050 GO:0002181 ! part of cytoplasmic translation + +[Term] +id: GO:0002183 +name: cytoplasmic translational initiation +def: "The process preceding formation of the peptide bond between the first two amino acids of a protein in the cytoplasm. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA." [] +is_a: GO:0006413 ! translational initiation +intersection_of: GO:0006413 ! translational initiation +intersection_of: BFO:0000050 GO:0002181 ! part of cytoplasmic translation +relationship: BFO:0000050 GO:0002181 ! part of cytoplasmic translation + +[Term] +id: GO:0002184 +name: cytoplasmic translational termination +def: "The process resulting in the release of a polypeptide chain from the ribosome in the cytoplasm, usually in response to a termination codon." [] +is_a: GO:0006415 ! translational termination +intersection_of: GO:0006415 ! translational termination +intersection_of: BFO:0000066 GO:0005829 ! occurs in cytosol +relationship: BFO:0000050 GO:0002181 ! part of cytoplasmic translation +relationship: BFO:0000066 GO:0005829 ! occurs in cytosol + [Term] id: GO:0002200 name: somatic diversification of immune receptors @@ -3184,6 +3291,18 @@ synonym: "pyrroline-5-carboxylate dehydrogenase activity" EXACT [] synonym: "pyrroline-5-carboxylic acid dehydrogenase activity" EXACT [] is_a: GO:0016646 ! oxidoreductase activity, acting on the CH-NH group of donors, NAD or NADP as acceptor +[Term] +id: GO:0003845 +name: 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity +def: "Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD(P)+ = an 11-oxosteroid + NAD(P)H + H(+)." [] +synonym: "11beta-hydroxy steroid dehydrogenase" EXACT [] +synonym: "11beta-hydroxysteroid dehydrogenase" EXACT [] +synonym: "beta-hydroxysteroid dehydrogenase" BROAD [] +synonym: "corticosteroid 11-reductase" RELATED [] +synonym: "corticosteroid 11beta-dehydrogenase" RELATED [] +synonym: "dehydrogenase, 11beta-hydroxy steroid" EXACT [] +is_a: GO:0033764 ! steroid dehydrogenase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor + [Term] id: GO:0003867 name: 4-aminobutyrate transaminase activity @@ -3440,6 +3559,14 @@ synonym: "Zwischenferment" RELATED [] synonym: "zwischenferment" RELATED [] is_a: GO:0016616 ! oxidoreductase activity, acting on the CH-OH group of donors, NAD or NADP as acceptor +[Term] +id: GO:0004346 +name: glucose-6-phosphatase activity +def: "Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate." [] +synonym: "D-glucose-6-phosphate phosphohydrolase activity" EXACT [] +synonym: "glucose 6-phosphate phosphatase activity" EXACT [] +is_a: GO:0050309 ! sugar-terminal-phosphatase activity + [Term] id: GO:0004347 name: glucose-6-phosphate isomerase activity @@ -3795,6 +3922,83 @@ synonym: "nervous-system specific enolase" NARROW [] synonym: "phosphoenolpyruvate hydratase activity" EXACT [] is_a: GO:0016836 ! hydro-lyase activity +[Term] +id: GO:0004672 +name: protein kinase activity +def: "Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP." [] +synonym: "protamine kinase activity" NARROW [] +is_a: GO:0016301 ! kinase activity +is_a: GO:0016773 ! phosphotransferase activity, alcohol group as acceptor +is_a: GO:0140096 ! catalytic activity, acting on a protein +relationship: BFO:0000050 GO:0006468 ! part of protein phosphorylation + +[Term] +id: GO:0004674 +name: protein serine/threonine kinase activity +def: "Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate." [] +synonym: "protein kinase (phosphorylating) activity" NARROW [] +synonym: "protein phosphokinase activity" NARROW [] +synonym: "protein serine kinase activity" NARROW [] +synonym: "protein serine-threonine kinase activity" EXACT [] +synonym: "protein-serine kinase activity" NARROW [] +synonym: "serine kinase activity" NARROW [] +synonym: "serine protein kinase activity" NARROW [] +synonym: "serine(threonine) protein kinase activity" EXACT [] +synonym: "serine-specific protein kinase activity" NARROW [] +synonym: "serine/threonine protein kinase activity" EXACT [] +synonym: "threonine-specific protein kinase activity" NARROW [] +is_a: GO:0004672 ! protein kinase activity + +[Term] +id: GO:0004683 +name: calmodulin-dependent protein kinase activity +def: "Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate. These reactions require the presence of calcium-bound calmodulin." [] +synonym: "ATP:caldesmon O-phosphotransferase activity" NARROW [] +synonym: "ATP:protein phosphotransferase (Ca2+/calmodulin-dependent) activity" EXACT [] +synonym: "Ca2+/calmodulin-dependent microtubule-associated protein 2 kinase activity" NARROW [] +synonym: "Ca2+/calmodulin-dependent protein kinase 1 activity" NARROW [] +synonym: "Ca2+/calmodulin-dependent protein kinase activity" EXACT [] +synonym: "Ca2+/calmodulin-dependent protein kinase II activity" NARROW [] +synonym: "Ca2+/calmodulin-dependent protein kinase IV activity" NARROW [] +synonym: "Ca2+/calmodulin-dependent protein kinase kinase activity" NARROW [] +synonym: "Ca2+/calmodulin-dependent protein kinase kinase beta activity" NARROW [] +synonym: "Ca2+/CaM-dependent kinase activity" EXACT [] +synonym: "calcium- and calmodulin-dependent protein kinase activity" EXACT [] +synonym: "calcium/calmodulin-dependent protein kinase activity" EXACT [] +synonym: "calcium/calmodulin-dependent protein kinase type II activity" NARROW [] +synonym: "caldesmon kinase (phosphorylating) activity" NARROW [] +synonym: "calmodulin regulated protein kinase activity" EXACT [] +synonym: "calmodulin-dependent kinase II activity" NARROW [] +synonym: "calmodulin-dependent protein kinase I activity" NARROW [] +synonym: "CaM kinase activity" EXACT [] +synonym: "CaM kinase II activity" NARROW [] +synonym: "CAM PKII" RELATED [] +synonym: "CaM-regulated serine/threonine kinase activity" EXACT [] +synonym: "CaMKI" RELATED [] +synonym: "CaMKII" RELATED [] +synonym: "CaMKIV" RELATED [] +synonym: "CaMKKalpha" RELATED [] +synonym: "CaMKKbeta" RELATED [] +synonym: "microtubule-associated protein 2 kinase activity" RELATED [] +synonym: "multifunctional calcium- and calmodulin-regulated protein kinase activity" RELATED [] +synonym: "multifunctional calcium/calmodulin regulated protein kinase activity" RELATED [] +synonym: "STK20" RELATED [] +is_a: GO:0004674 ! protein serine/threonine kinase activity + +[Term] +id: GO:0004689 +name: phosphorylase kinase activity +def: "Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a." [] +synonym: "ATP:phosphorylase-b phosphotransferase activity" EXACT [] +synonym: "dephosphophosphorylase kinase activity" EXACT [] +synonym: "glycogen phosphorylase kinase activity" EXACT [] +synonym: "PHK" RELATED [] +synonym: "phosphorylase B kinase activity" EXACT [] +synonym: "phosphorylase kinase (phosphorylating) activity" EXACT [] +synonym: "phosphorylase kinase, intrinsic catalyst activity" EXACT [] +synonym: "STK17" RELATED [] +is_a: GO:0004683 ! calmodulin-dependent protein kinase activity + [Term] id: GO:0004737 name: pyruvate decarboxylase activity @@ -5014,6 +5218,99 @@ def: "Any process involved in the conversion of one or more primary RNA transcri is_a: GO:0016070 ! RNA metabolic process relationship: BFO:0000050 GO:0010467 ! part of gene expression +[Term] +id: GO:0006412 +name: translation +def: "The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome." [] +synonym: "protein anabolism" EXACT [] +synonym: "protein biosynthesis" EXACT [] +synonym: "protein biosynthetic process" EXACT [] +synonym: "protein formation" EXACT [] +synonym: "protein synthesis" EXACT [] +synonym: "protein translation" EXACT [] +is_a: GO:0034645 ! cellular macromolecule biosynthetic process +is_a: GO:0043043 ! peptide biosynthetic process +is_a: GO:0044267 ! cellular protein metabolic process +relationship: BFO:0000050 GO:0010467 ! part of gene expression +relationship: BFO:0000051 GO:0006413 ! has_part translational initiation +relationship: BFO:0000051 GO:0006414 ! has_part translational elongation +relationship: BFO:0000051 GO:0006415 ! has_part translational termination + +[Term] +id: GO:0006413 +name: translational initiation +def: "The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA." [] +synonym: "biopolymerisation" BROAD [] +synonym: "biopolymerization" BROAD [] +synonym: "protein synthesis initiation" BROAD [] +synonym: "translation initiation" EXACT [] +is_a: GO:0044237 ! cellular metabolic process +relationship: BFO:0000050 GO:0006412 ! part of translation +relationship: BFO:0000051 GO:0001677 ! has_part formation of translation initiation ternary complex + +[Term] +id: GO:0006414 +name: translational elongation +def: "The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis." [] +synonym: "protein synthesis elongation" BROAD [] +synonym: "translation elongation" EXACT [] +is_a: GO:0034645 ! cellular macromolecule biosynthetic process +relationship: BFO:0000050 GO:0006412 ! part of translation + +[Term] +id: GO:0006415 +name: translational termination +def: "The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code)." [] +synonym: "protein synthesis termination" BROAD [] +synonym: "translation termination" EXACT [] +synonym: "translational complex disassembly" EXACT [] +is_a: GO:0043624 ! cellular protein complex disassembly +relationship: BFO:0000050 GO:0006412 ! part of translation + +[Term] +id: GO:0006417 +name: regulation of translation +def: "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA." [] +synonym: "regulation of protein anabolism" EXACT [] +synonym: "regulation of protein biosynthesis" EXACT [] +synonym: "regulation of protein formation" EXACT [] +synonym: "regulation of protein synthesis" EXACT [] +is_a: GO:0010608 ! posttranscriptional regulation of gene expression +is_a: GO:0032268 ! regulation of cellular protein metabolic process +is_a: GO:0034248 ! regulation of cellular amide metabolic process +is_a: GO:2000112 ! regulation of cellular macromolecule biosynthetic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006412 ! regulates translation +relationship: RO:0002211 GO:0006412 ! regulates translation + +[Term] +id: GO:0006446 +name: regulation of translational initiation +def: "Any process that modulates the frequency, rate or extent of translational initiation." [] +is_a: GO:0006417 ! regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006413 ! regulates translational initiation +relationship: RO:0002211 GO:0006413 ! regulates translational initiation + +[Term] +id: GO:0006448 +name: regulation of translational elongation +def: "Any process that modulates the frequency, rate, extent or accuracy of translational elongation." [] +is_a: GO:0006417 ! regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006414 ! regulates translational elongation +relationship: RO:0002211 GO:0006414 ! regulates translational elongation + +[Term] +id: GO:0006449 +name: regulation of translational termination +def: "Any process that modulates the frequency, rate or extent of translational termination." [] +is_a: GO:0006417 ! regulation of translation +is_a: GO:0043244 ! regulation of protein complex disassembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006415 ! regulates translational termination +relationship: RO:0002211 GO:0006415 ! regulates translational termination + [Term] id: GO:0006464 name: cellular protein modification process @@ -5024,6 +5321,29 @@ synonym: "protein tagging activity" RELATED [] is_a: GO:0036211 ! protein modification process is_a: GO:0044267 ! cellular protein metabolic process +[Term] +id: GO:0006468 +name: protein phosphorylation +def: "The process of introducing a phosphate group on to a protein." [] +synonym: "protein amino acid phosphorylation" EXACT [] +is_a: GO:0006464 ! cellular protein modification process +is_a: GO:0016310 ! phosphorylation + +[Term] +id: GO:0006469 +name: negative regulation of protein kinase activity +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity." [] +synonym: "down regulation of protein kinase activity" EXACT [] +synonym: "down-regulation of protein kinase activity" EXACT [] +synonym: "downregulation of protein kinase activity" EXACT [] +synonym: "inhibition of protein kinase activity" NARROW [] +is_a: GO:0001933 ! negative regulation of protein phosphorylation +is_a: GO:0033673 ! negative regulation of kinase activity +is_a: GO:0045859 ! regulation of protein kinase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0004672 ! negatively regulates protein kinase activity +relationship: RO:0002212 GO:0004672 ! negatively regulates protein kinase activity + [Term] id: GO:0006486 name: protein glycosylation @@ -5159,6 +5479,16 @@ synonym: "histidine metabolism" EXACT [] is_a: GO:0052803 ! imidazole-containing compound metabolic process is_a: GO:1901605 ! alpha-amino acid metabolic process +[Term] +id: GO:0006555 +name: methionine metabolic process +def: "The chemical reactions and pathways involving methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins." [] +synonym: "methionine and threonine metabolic process" BROAD [] +synonym: "methionine and threonine metabolism" BROAD [] +synonym: "methionine metabolism" EXACT [] +is_a: GO:0000096 ! sulfur amino acid metabolic process +is_a: GO:0009066 ! aspartate family amino acid metabolic process + [Term] id: GO:0006558 name: L-phenylalanine metabolic process @@ -5920,6 +6250,13 @@ is_a: GO:0098657 ! import into cell relationship: BFO:0000051 GO:0006900 ! has_part vesicle budding from membrane relationship: BFO:0000051 GO:0010324 ! has_part membrane invagination +[Term] +id: GO:0006898 +name: receptor-mediated endocytosis +def: "An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles." [] +synonym: "receptor mediated endocytosis" EXACT [] +is_a: GO:0006897 ! endocytosis + [Term] id: GO:0006900 name: vesicle budding from membrane @@ -6439,6 +6776,15 @@ is_a: GO:0006997 ! nucleus organization is_a: GO:0022412 ! cellular process involved in reproduction in multicellular organism relationship: BFO:0000050 GO:0007286 ! part of spermatid development +[Term] +id: GO:0007320 +name: insemination +def: "The introduction of semen or sperm into the genital tract of a female." [] +is_a: GO:0044703 ! multi-organism reproductive process +is_a: GO:0044706 ! multi-multicellular organism process +is_a: GO:0048609 ! multicellular organismal reproductive process +relationship: BFO:0000050 GO:0007620 ! part of copulation + [Term] id: GO:0007346 name: regulation of mitotic cell cycle @@ -6758,6 +7104,18 @@ synonym: "establishment and maintenance of protein localization" RELATED [] synonym: "protein localisation" EXACT [] is_a: GO:0033036 ! macromolecule localization +[Term] +id: GO:0008119 +name: thiopurine S-methyltransferase activity +def: "Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether." [] +synonym: "6-thiopurine transmethylase activity" EXACT [] +synonym: "mercaptopurine methyltransferase activity" EXACT [] +synonym: "S-adenosyl-L-methionine:thiopurine S-methyltransferase activity" EXACT [] +synonym: "thiopurine methyltransferase activity" EXACT [] +synonym: "TPMT" RELATED [] +is_a: GO:0008172 ! S-methyltransferase activity +is_a: GO:0008757 ! S-adenosylmethionine-dependent methyltransferase activity + [Term] id: GO:0008144 name: drug binding @@ -6792,6 +7150,12 @@ synonym: "methylase" BROAD [] is_a: GO:0016741 ! transferase activity, transferring one-carbon groups relationship: BFO:0000050 GO:0032259 ! part of methylation +[Term] +id: GO:0008172 +name: S-methyltransferase activity +def: "Catalysis of the transfer of a methyl group to the sulfur atom of an acceptor molecule." [] +is_a: GO:0008168 ! methyltransferase activity + [Term] id: GO:0008202 name: steroid metabolic process @@ -7250,6 +7614,16 @@ def: "The chemical reactions and pathways involving amino acids of the aspartate synonym: "aspartate family amino acid metabolism" EXACT [] is_a: GO:1901605 ! alpha-amino acid metabolic process +[Term] +id: GO:0009068 +name: aspartate family amino acid catabolic process +def: "The chemical reactions and pathways resulting in the breakdown of amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine." [] +synonym: "aspartate family amino acid breakdown" EXACT [] +synonym: "aspartate family amino acid catabolism" EXACT [] +synonym: "aspartate family amino acid degradation" EXACT [] +is_a: GO:0009066 ! aspartate family amino acid metabolic process +is_a: GO:1901606 ! alpha-amino acid catabolic process + [Term] id: GO:0009069 name: serine family amino acid metabolic process @@ -7296,6 +7670,17 @@ def: "The chemical reactions and pathways involving amino acids containing a bra synonym: "branched chain family amino acid metabolism" EXACT [] is_a: GO:0006520 ! cellular amino acid metabolic process +[Term] +id: GO:0009087 +name: methionine catabolic process +def: "The chemical reactions and pathways resulting in the breakdown of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins." [] +synonym: "methionine breakdown" EXACT [] +synonym: "methionine catabolism" EXACT [] +synonym: "methionine degradation" EXACT [] +is_a: GO:0000098 ! sulfur amino acid catabolic process +is_a: GO:0006555 ! methionine metabolic process +is_a: GO:0009068 ! aspartate family amino acid catabolic process + [Term] id: GO:0009100 name: glycoprotein metabolic process @@ -7873,6 +8258,28 @@ synonym: "response to hormone stimulus" EXACT [] is_a: GO:0009719 ! response to endogenous stimulus is_a: GO:0010033 ! response to organic substance +[Term] +id: GO:0009743 +name: response to carbohydrate +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus." [] +synonym: "response to carbohydrate stimulus" EXACT [] +is_a: GO:0010033 ! response to organic substance +is_a: GO:1901700 ! response to oxygen-containing compound + +[Term] +id: GO:0009746 +name: response to hexose +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus." [] +synonym: "response to hexose stimulus" EXACT [] +is_a: GO:0034284 ! response to monosaccharide + +[Term] +id: GO:0009749 +name: response to glucose +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus." [] +synonym: "response to glucose stimulus" EXACT [] +is_a: GO:0009746 ! response to hexose + [Term] id: GO:0009755 name: hormone-mediated signaling pathway @@ -8180,6 +8587,14 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006968 ! positively regulates cellular defense response relationship: RO:0002213 GO:0006968 ! positively regulates cellular defense response +[Term] +id: GO:0010243 +name: response to organonitrogen compound +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond." [] +synonym: "response to organic nitrogen" EXACT [] +is_a: GO:0010033 ! response to organic substance +is_a: GO:1901698 ! response to nitrogen compound + [Term] id: GO:0010256 name: endomembrane system organization @@ -8432,6 +8847,12 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0043170 ! negatively regulates macromolecule metabolic process relationship: RO:0002212 GO:0043170 ! negatively regulates macromolecule metabolic process +[Term] +id: GO:0010608 +name: posttranscriptional regulation of gene expression +def: "Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript." [] +is_a: GO:0010468 ! regulation of gene expression + [Term] id: GO:0010623 name: programmed cell death involved in cell development @@ -8857,6 +9278,38 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0016853 ! positively regulates isomerase activity relationship: RO:0002213 GO:0016853 ! positively regulates isomerase activity +[Term] +id: GO:0010921 +name: regulation of phosphatase activity +def: "Any process that modulates the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate." [] +is_a: GO:0035303 ! regulation of dephosphorylation +is_a: GO:0051336 ! regulation of hydrolase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0016791 ! regulates phosphatase activity +relationship: RO:0002211 GO:0016791 ! regulates phosphatase activity + +[Term] +id: GO:0010922 +name: positive regulation of phosphatase activity +def: "Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate." [] +is_a: GO:0010921 ! regulation of phosphatase activity +is_a: GO:0035306 ! positive regulation of dephosphorylation +is_a: GO:0051345 ! positive regulation of hydrolase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0016791 ! positively regulates phosphatase activity +relationship: RO:0002213 GO:0016791 ! positively regulates phosphatase activity + +[Term] +id: GO:0010923 +name: negative regulation of phosphatase activity +def: "Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate." [] +is_a: GO:0010921 ! regulation of phosphatase activity +is_a: GO:0035305 ! negative regulation of dephosphorylation +is_a: GO:0051346 ! negative regulation of hydrolase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0016791 ! negatively regulates phosphatase activity +relationship: RO:0002212 GO:0016791 ! negatively regulates phosphatase activity + [Term] id: GO:0010927 name: cellular component assembly involved in morphogenesis @@ -8982,6 +9435,35 @@ synonym: "movement along microtubule" EXACT [] is_a: GO:0030705 ! cytoskeleton-dependent intracellular transport is_a: GO:0099111 ! microtubule-based transport +[Term] +id: GO:0010984 +name: regulation of lipoprotein particle clearance +def: "Any process that modulates the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded." [] +is_a: GO:0051239 ! regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0034381 ! regulates plasma lipoprotein particle clearance +relationship: RO:0002211 GO:0034381 ! regulates plasma lipoprotein particle clearance + +[Term] +id: GO:0010985 +name: negative regulation of lipoprotein particle clearance +def: "Any process that decreases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded." [] +is_a: GO:0010984 ! regulation of lipoprotein particle clearance +is_a: GO:0051241 ! negative regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0034381 ! negatively regulates plasma lipoprotein particle clearance +relationship: RO:0002212 GO:0034381 ! negatively regulates plasma lipoprotein particle clearance + +[Term] +id: GO:0010986 +name: positive regulation of lipoprotein particle clearance +def: "Any process that increases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded." [] +is_a: GO:0010984 ! regulation of lipoprotein particle clearance +is_a: GO:0051240 ! positive regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0034381 ! positively regulates plasma lipoprotein particle clearance +relationship: RO:0002213 GO:0034381 ! positively regulates plasma lipoprotein particle clearance + [Term] id: GO:0012501 name: programmed cell death @@ -9185,6 +9667,13 @@ is_a: GO:0046943 ! carboxylic acid transmembrane transporter activity is_a: GO:1901505 ! carbohydrate derivative transmembrane transporter activity relationship: BFO:0000050 GO:0015739 ! part of sialic acid transport +[Term] +id: GO:0015152 +name: glucose-6-phosphate transmembrane transporter activity +def: "Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6." [] +is_a: GO:0022857 ! transmembrane transporter activity +relationship: BFO:0000050 GO:0015760 ! part of glucose-6-phosphate transport + [Term] id: GO:0015238 name: drug transmembrane transporter activity @@ -9217,6 +9706,24 @@ is_a: GO:0005216 ! ion channel activity is_a: GO:0022834 ! ligand-gated channel activity is_a: GO:0022839 ! ion gated channel activity +[Term] +id: GO:0015291 +name: secondary active transmembrane transporter activity +def: "Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters." [] +synonym: "active transporter" BROAD [] +synonym: "coupled carrier" EXACT [] +synonym: "electrochemical potential-driven transporter activity" EXACT [] +synonym: "energizer of outer membrane receptor-mediated transport activity" NARROW [] +synonym: "galactose/glucose (methylgalactoside) porter activity" RELATED [] +synonym: "heavy metal ion porter activity" NARROW [] +synonym: "ion-gradient-driven energizer activity" NARROW [] +synonym: "multidrug endosomal transmembrane transporter activity" NARROW [] +synonym: "nitrite/nitrate porter activity" NARROW [] +synonym: "porter activity" EXACT [] +synonym: "porters" EXACT [] +synonym: "secondary carrier-type facilitators" EXACT [] +is_a: GO:0022804 ! active transmembrane transporter activity + [Term] id: GO:0015318 name: inorganic molecular entity transmembrane transporter activity @@ -9225,6 +9732,13 @@ synonym: "inorganic solute uptake transmembrane transporter activity" EXACT [] synonym: "inorganic uptake permease activity" EXACT [] is_a: GO:0022857 ! transmembrane transporter activity +[Term] +id: GO:0015349 +name: thyroid hormone transmembrane transporter activity +def: "Enables the transfer of thyroid hormones from one side of a membrane to the other. Thyroid hormone are any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine." [] +is_a: GO:0015291 ! secondary active transmembrane transporter activity +relationship: BFO:0000050 GO:0070327 ! part of thyroid hormone transport + [Term] id: GO:0015669 name: gas transport @@ -9272,6 +9786,13 @@ def: "The directed movement of organic anions into, out of or within a cell, or is_a: GO:0006820 ! anion transport is_a: GO:0071702 ! organic substance transport +[Term] +id: GO:0015712 +name: hexose phosphate transport +def: "The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore." [] +is_a: GO:0015748 ! organophosphate ester transport +is_a: GO:1901264 ! carbohydrate derivative transport + [Term] id: GO:0015723 name: bilirubin transport @@ -9286,6 +9807,12 @@ def: "The directed movement of sialic acid into, out of or within a cell, or bet is_a: GO:0046942 ! carboxylic acid transport is_a: GO:1901264 ! carbohydrate derivative transport +[Term] +id: GO:0015748 +name: organophosphate ester transport +def: "The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds." [] +is_a: GO:0071702 ! organic substance transport + [Term] id: GO:0015749 name: monosaccharide transmembrane transport @@ -9298,6 +9825,12 @@ id: GO:0015758 is_obsolete: true replaced_by: GO:1904659 +[Term] +id: GO:0015760 +name: glucose-6-phosphate transport +def: "The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6." [] +is_a: GO:0015712 ! hexose phosphate transport + [Term] id: GO:0015804 name: neutral amino acid transport @@ -9699,6 +10232,12 @@ name: phosphorylation def: "The process of introducing a phosphate group into a molecule, usually with the formation of a phosphoric ester, a phosphoric anhydride or a phosphoric amide." [] is_a: GO:0006796 ! phosphate-containing compound metabolic process +[Term] +id: GO:0016311 +name: dephosphorylation +def: "The process of removing one or more phosphoric (ester or anhydride) residues from a molecule." [] +is_a: GO:0006796 ! phosphate-containing compound metabolic process + [Term] id: GO:0016331 name: morphogenesis of embryonic epithelium @@ -10012,6 +10551,25 @@ def: "Catalysis of the hydrolysis of any ester bond." [] synonym: "esterase activity" EXACT [] is_a: GO:0016787 ! hydrolase activity +[Term] +id: GO:0016791 +name: phosphatase activity +def: "Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate." [] +synonym: "4-nitrophenylphosphatase activity" NARROW [] +synonym: "4-nitrophenylphosphate phosphohydrolase activity" NARROW [] +synonym: "ecto-p-nitrophenyl phosphatase activity" NARROW [] +synonym: "K-pNPPase activity" NARROW [] +synonym: "nitrophenyl phosphatase activity" NARROW [] +synonym: "NPPase activity" NARROW [] +synonym: "p-nitrophenylphosphatase activity" NARROW [] +synonym: "p-nitrophenylphosphate phosphohydrolase activity" NARROW [] +synonym: "para-nitrophenyl phosphatase activity" NARROW [] +synonym: "phosphatase" RELATED [] +synonym: "phosphoric monoester hydrolase activity" EXACT [] +synonym: "PNPPase activity" NARROW [] +is_a: GO:0042578 ! phosphoric ester hydrolase activity +relationship: BFO:0000050 GO:0016311 ! part of dephosphorylation + [Term] id: GO:0016798 name: hydrolase activity, acting on glycosyl bonds @@ -10094,6 +10652,19 @@ name: hydro-lyase activity def: "Catalysis of the cleavage of a carbon-oxygen bond by elimination of water." [] is_a: GO:0016835 ! carbon-oxygen lyase activity +[Term] +id: GO:0016840 +name: carbon-nitrogen lyase activity +def: "Catalysis of the release of ammonia or one of its derivatives, with the formation of a double bond or ring. Enzymes with this activity may catalyze the actual elimination of the ammonia, amine or amide, e.g. CH-CH(-NH-R) = C=CH- + NH2-R. Others, however, catalyze elimination of another component, e.g. water, which is followed by spontaneous reactions that lead to breakage of the C-N bond, e.g. L-serine ammonia-lyase (EC:4.3.1.17), so that the overall reaction is C(-OH)-CH(-NH2) = CH2-CO- + NH3, i.e. an elimination with rearrangement. The sub-subclasses of EC:4.3 are the ammonia-lyases (EC:4.3.1), lyases acting on amides, amidines, etc. (EC:4.3.2), the amine-lyases (EC:4.3.3), and other carbon-nitrogen lyases (EC:4.3.99)." [] +synonym: "other carbon-nitrogen lyase activity" NARROW [] +is_a: GO:0016829 ! lyase activity + +[Term] +id: GO:0016842 +name: amidine-lyase activity +def: "Catalysis of the release of amides or amidines by the cleavage of a carbon-nitrogen bond or the reverse reaction with an amide or amidine as a substrate." [] +is_a: GO:0016840 ! carbon-nitrogen lyase activity + [Term] id: GO:0016853 name: isomerase activity @@ -10210,6 +10781,30 @@ def: "The self-renewing division of a stem cell. A stem cell is an undifferentia synonym: "stem cell renewal" EXACT [] is_a: GO:0051301 ! cell division +[Term] +id: GO:0017148 +name: negative regulation of translation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA." [] +synonym: "down regulation of protein biosynthetic process" EXACT [] +synonym: "down-regulation of protein biosynthetic process" EXACT [] +synonym: "downregulation of protein biosynthetic process" EXACT [] +synonym: "inhibition of protein biosynthetic process" NARROW [] +synonym: "negative regulation of protein anabolism" EXACT [] +synonym: "negative regulation of protein biosynthesis" EXACT [] +synonym: "negative regulation of protein biosynthetic process" EXACT [] +synonym: "negative regulation of protein formation" EXACT [] +synonym: "negative regulation of protein synthesis" EXACT [] +synonym: "protein biosynthesis inhibitor activity" RELATED [] +synonym: "protein biosynthetic process inhibitor activity" RELATED [] +is_a: GO:0006417 ! regulation of translation +is_a: GO:0010629 ! negative regulation of gene expression +is_a: GO:0032269 ! negative regulation of cellular protein metabolic process +is_a: GO:0034249 ! negative regulation of cellular amide metabolic process +is_a: GO:2000113 ! negative regulation of cellular macromolecule biosynthetic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006412 ! negatively regulates translation +relationship: RO:0002212 GO:0006412 ! negatively regulates translation + [Term] id: GO:0017168 name: 5-oxoprolinase (ATP-hydrolyzing) activity @@ -10311,6 +10906,12 @@ def: "Catalysis of the transfer of a phosphate group, usually from ATP, to a car is_a: GO:0016301 ! kinase activity relationship: BFO:0000050 GO:0046835 ! part of carbohydrate phosphorylation +[Term] +id: GO:0019203 +name: carbohydrate phosphatase activity +def: "Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate." [] +is_a: GO:0016791 ! phosphatase activity + [Term] id: GO:0019216 name: regulation of lipid metabolic process @@ -10850,6 +11451,25 @@ name: biological adhesion def: "The attachment of a cell or organism to a substrate, another cell, or other organism. Biological adhesion includes intracellular attachment between membrane regions." [] is_a: GO:0008150 ! biological_process +[Term] +id: GO:0022613 +name: ribonucleoprotein complex biogenesis +def: "A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex." [] +synonym: "ribonucleoprotein complex biogenesis and assembly" EXACT [] +synonym: "RNA-protein complex biogenesis" EXACT [] +is_a: GO:0044085 ! cellular component biogenesis + +[Term] +id: GO:0022618 +name: ribonucleoprotein complex assembly +def: "The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex." [] +synonym: "protein-RNA complex assembly" EXACT [] +synonym: "RNA-protein complex assembly" EXACT [] +synonym: "RNP complex assembly" EXACT [] +is_a: GO:0034622 ! cellular protein-containing complex assembly +is_a: GO:0071826 ! ribonucleoprotein complex subunit organization +relationship: BFO:0000050 GO:0022613 ! part of ribonucleoprotein complex biogenesis + [Term] id: GO:0022626 name: cytosolic ribosome @@ -10870,6 +11490,16 @@ synonym: "porters" BROAD [] synonym: "uniporter activity z" NARROW [] is_a: GO:0022857 ! transmembrane transporter activity +[Term] +id: GO:0022804 +name: active transmembrane transporter activity +def: "Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction." [] +synonym: "active carrier activity" EXACT [] +synonym: "carrier activity" EXACT [] +synonym: "permease activity" EXACT [] +synonym: "pump activity" EXACT [] +is_a: GO:0022857 ! transmembrane transporter activity + [Term] id: GO:0022824 name: transmitter-gated ion channel activity @@ -12177,6 +12807,36 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0044248 ! positively regulates cellular catabolic process relationship: RO:0002213 GO:0044248 ! positively regulates cellular catabolic process +[Term] +id: GO:0031333 +name: negative regulation of protein complex assembly +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly." [] +synonym: "down regulation of protein complex assembly" EXACT [] +synonym: "down-regulation of protein complex assembly" EXACT [] +synonym: "downregulation of protein complex assembly" EXACT [] +synonym: "inhibition of protein complex assembly" NARROW [] +is_a: GO:0043254 ! regulation of protein complex assembly +is_a: GO:0051129 ! negative regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0065003 ! negatively regulates protein-containing complex assembly +relationship: RO:0002212 GO:0065003 ! negatively regulates protein-containing complex assembly + +[Term] +id: GO:0031334 +name: positive regulation of protein complex assembly +def: "Any process that activates or increases the frequency, rate or extent of protein complex assembly." [] +synonym: "activation of protein complex assembly" NARROW [] +synonym: "stimulation of protein complex assembly" NARROW [] +synonym: "up regulation of protein complex assembly" EXACT [] +synonym: "up-regulation of protein complex assembly" EXACT [] +synonym: "upregulation of protein complex assembly" EXACT [] +is_a: GO:0043254 ! regulation of protein complex assembly +is_a: GO:0044089 ! positive regulation of cellular component biogenesis +is_a: GO:0051130 ! positive regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0065003 ! positively regulates protein-containing complex assembly +relationship: RO:0002213 GO:0065003 ! positively regulates protein-containing complex assembly + [Term] id: GO:0031335 name: regulation of sulfur amino acid metabolic process @@ -12853,6 +13513,24 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0031667 ! positively regulates response to nutrient levels relationship: RO:0002213 GO:0031667 ! positively regulates response to nutrient levels +[Term] +id: GO:0032113 +name: regulation of carbohydrate phosphatase activity +def: "Any process that modulates the frequency, rate or extent of carbohydrate phosphatase activity, the catalysis of the hydrolysis of phosphate from a carbohydrate phosphate." [] +is_a: GO:0010921 ! regulation of phosphatase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0019203 ! regulates carbohydrate phosphatase activity +relationship: RO:0002211 GO:0019203 ! regulates carbohydrate phosphatase activity + +[Term] +id: GO:0032114 +name: regulation of glucose-6-phosphatase activity +def: "Any process that modulates the frequency, rate or extent of glucose-6-phosphatase activity, the catalysis of the reaction: D-glucose 6-phosphate + H2O = D-glucose + phosphate." [] +is_a: GO:0032113 ! regulation of carbohydrate phosphatase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0004346 ! regulates glucose-6-phosphatase activity +relationship: RO:0002211 GO:0004346 ! regulates glucose-6-phosphatase activity + [Term] id: GO:0032217 name: riboflavin transmembrane transporter activity @@ -12922,6 +13600,57 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0044267 ! positively regulates cellular protein metabolic process relationship: RO:0002213 GO:0044267 ! positively regulates cellular protein metabolic process +[Term] +id: GO:0032274 +name: gonadotropin secretion +def: "The regulated release of a gonadotropin, any hormone that stimulates the gonads, especially follicle-stimulating hormone and luteinizing hormone." [] +synonym: "gonadotrophin secretion" EXACT [] +is_a: GO:0060986 ! endocrine hormone secretion + +[Term] +id: GO:0032276 +name: regulation of gonadotropin secretion +def: "Any process that modulates the frequency, rate or extent of the regulated release of a gonadotropin." [] +synonym: "regulation of gonadotrophin secretion" EXACT [] +is_a: GO:0044060 ! regulation of endocrine process +is_a: GO:0046883 ! regulation of hormone secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0032274 ! regulates gonadotropin secretion +relationship: RO:0002211 GO:0032274 ! regulates gonadotropin secretion + +[Term] +id: GO:0032277 +name: negative regulation of gonadotropin secretion +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a gonadotropin." [] +synonym: "down regulation of gonadotropin secretion" EXACT [] +synonym: "down-regulation of gonadotropin secretion" EXACT [] +synonym: "downregulation of gonadotropin secretion" EXACT [] +synonym: "inhibition of gonadotropin secretion" NARROW [] +synonym: "negative regulation of gonadotrophin secretion" EXACT [] +is_a: GO:0032276 ! regulation of gonadotropin secretion +is_a: GO:0046888 ! negative regulation of hormone secretion +is_a: GO:0051241 ! negative regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0032274 ! negatively regulates gonadotropin secretion +relationship: RO:0002212 GO:0032274 ! negatively regulates gonadotropin secretion + +[Term] +id: GO:0032278 +name: positive regulation of gonadotropin secretion +def: "Any process that activates or increases the frequency, rate or extent of the regulated release of a gonadotropin." [] +synonym: "activation of gonadotropin secretion" NARROW [] +synonym: "positive regulation of gonadotrophin secretion" EXACT [] +synonym: "stimulation of gonadotropin secretion" NARROW [] +synonym: "up regulation of gonadotropin secretion" EXACT [] +synonym: "up-regulation of gonadotropin secretion" EXACT [] +synonym: "upregulation of gonadotropin secretion" EXACT [] +is_a: GO:0032276 ! regulation of gonadotropin secretion +is_a: GO:0046887 ! positive regulation of hormone secretion +is_a: GO:0051240 ! positive regulation of multicellular organismal process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0032274 ! positively regulates gonadotropin secretion +relationship: RO:0002213 GO:0032274 ! positively regulates gonadotropin secretion + [Term] id: GO:0032350 name: regulation of hormone metabolic process @@ -13179,6 +13908,21 @@ def: "The biological process in which new individuals are produced by one or two is_a: GO:0000003 ! reproduction is_a: GO:0032501 ! multicellular organismal process +[Term] +id: GO:0032543 +name: mitochondrial translation +def: "The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code." [] +synonym: "mitochondrial protein anabolism" EXACT [] +synonym: "mitochondrial protein biosynthesis" EXACT [] +synonym: "mitochondrial protein formation" EXACT [] +synonym: "mitochondrial protein synthesis" EXACT [] +synonym: "mitochondrial protein translation" EXACT [] +is_a: GO:0006412 ! translation +intersection_of: GO:0006412 ! translation +intersection_of: BFO:0000050 GO:0140053 ! part of mitochondrial gene expression +intersection_of: BFO:0000066 GO:0005739 ! occurs in mitochondrion +relationship: BFO:0000050 GO:0140053 ! part of mitochondrial gene expression + [Term] id: GO:0032592 name: integral component of mitochondrial membrane @@ -13319,6 +14063,20 @@ is_a: GO:0120038 ! plasma membrane bounded cell projection part intersection_of: GO:0005737 ! cytoplasm intersection_of: BFO:0000050 GO:0120025 ! part of plasma membrane bounded cell projection +[Term] +id: GO:0032868 +name: response to insulin +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms." [] +synonym: "response to insulin stimulus" EXACT [] +is_a: GO:0043434 ! response to peptide hormone + +[Term] +id: GO:0032869 +name: cellular response to insulin stimulus +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms." [] +is_a: GO:0032868 ! response to insulin +is_a: GO:0071375 ! cellular response to peptide hormone stimulus + [Term] id: GO:0032870 name: cellular response to hormone stimulus @@ -13421,6 +14179,23 @@ synonym: "tissue secretion" EXACT [] is_a: GO:0032501 ! multicellular organismal process is_a: GO:0046903 ! secretion +[Term] +id: GO:0032984 +name: protein-containing complex disassembly +def: "The disaggregation of a protein-containing macromolecular complex into its constituent components." [] +synonym: "cellular macromolecule complex disassembly" RELATED [] +synonym: "macromolecule complex disassembly" RELATED [] +synonym: "protein complex disassembly" EXACT [] +is_a: GO:0022411 ! cellular component disassembly +is_a: GO:0043933 ! protein-containing complex subunit organization + +[Term] +id: GO:0032987 +name: protein-lipid complex disassembly +def: "The disaggregation of a protein-lipid complex into its constituent components." [] +is_a: GO:0032984 ! protein-containing complex disassembly +is_a: GO:0071825 ! protein-lipid complex subunit organization + [Term] id: GO:0032989 name: cellular component morphogenesis @@ -13885,6 +14660,12 @@ synonym: "cholesterol formation via lathosterol" EXACT [] synonym: "cholesterol synthesis via lathosterol" EXACT [] is_a: GO:0006695 ! cholesterol biosynthetic process +[Term] +id: GO:0033500 +name: carbohydrate homeostasis +def: "A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell." [] +is_a: GO:0048878 ! chemical homeostasis + [Term] id: GO:0033554 name: cellular response to stress @@ -14151,6 +14932,13 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0019627 ! regulates urea metabolic process relationship: RO:0002211 GO:0019627 ! regulates urea metabolic process +[Term] +id: GO:0034284 +name: response to monosaccharide +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus." [] +synonym: "response to monosaccharide stimulus" EXACT [] +is_a: GO:0009743 ! response to carbohydrate + [Term] id: GO:0034311 name: diol metabolic process @@ -14159,6 +14947,16 @@ synonym: "dihydric alcohol metabolic process" RELATED [] synonym: "diol metabolism" EXACT [] is_a: GO:0019751 ! polyol metabolic process +[Term] +id: GO:0034381 +name: plasma lipoprotein particle clearance +def: "The process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded." [] +synonym: "lipoprotein particle clearance" EXACT [] +is_a: GO:0032501 ! multicellular organismal process +relationship: BFO:0000050 GO:0097006 ! part of regulation of plasma lipoprotein particle levels +relationship: BFO:0000051 GO:0006898 ! has_part receptor-mediated endocytosis +relationship: BFO:0000051 GO:0071829 ! has_part plasma lipoprotein particle disassembly + [Term] id: GO:0034399 name: nuclear periphery @@ -14194,6 +14992,14 @@ synonym: "channel localizer activity" NARROW [] is_a: GO:0008104 ! protein localization is_a: GO:0070727 ! cellular macromolecule localization +[Term] +id: GO:0034622 +name: cellular protein-containing complex assembly +def: "The aggregation, arrangement and bonding together of a set of components to form a protein complex, occurring at the level of an individual cell." [] +synonym: "cellular macromolecule complex assembly" RELATED [] +synonym: "cellular protein complex assembly" EXACT [] +is_a: GO:0065003 ! protein-containing complex assembly + [Term] id: GO:0034641 name: cellular nitrogen compound metabolic process @@ -14597,6 +15403,44 @@ name: regulation of tube diameter def: "Any process that modulates the diameter of a tube." [] is_a: GO:0035150 ! regulation of tube size +[Term] +id: GO:0035303 +name: regulation of dephosphorylation +def: "Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule." [] +is_a: GO:0019220 ! regulation of phosphate metabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0016311 ! regulates dephosphorylation +relationship: RO:0002211 GO:0016311 ! regulates dephosphorylation + +[Term] +id: GO:0035305 +name: negative regulation of dephosphorylation +def: "Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule." [] +synonym: "down regulation of dephosphorylation" EXACT [] +synonym: "down-regulation of dephosphorylation" EXACT [] +synonym: "downregulation of dephosphorylation" EXACT [] +synonym: "inhibition of dephosphorylation" NARROW [] +is_a: GO:0035303 ! regulation of dephosphorylation +is_a: GO:0045936 ! negative regulation of phosphate metabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0016311 ! negatively regulates dephosphorylation +relationship: RO:0002212 GO:0016311 ! negatively regulates dephosphorylation + +[Term] +id: GO:0035306 +name: positive regulation of dephosphorylation +def: "Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule." [] +synonym: "activation of dephosphorylation" NARROW [] +synonym: "stimulation of dephosphorylation" NARROW [] +synonym: "up regulation of dephosphorylation" EXACT [] +synonym: "up-regulation of dephosphorylation" EXACT [] +synonym: "upregulation of dephosphorylation" EXACT [] +is_a: GO:0035303 ! regulation of dephosphorylation +is_a: GO:0045937 ! positive regulation of phosphate metabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0016311 ! positively regulates dephosphorylation +relationship: RO:0002213 GO:0016311 ! positively regulates dephosphorylation + [Term] id: GO:0035369 name: pre-B cell receptor complex @@ -14658,6 +15502,29 @@ intersection_of: GO:0042073 ! intraciliary transport intersection_of: BFO:0000050 GO:0060271 ! part of cilium assembly relationship: BFO:0000050 GO:0060271 ! part of cilium assembly +[Term] +id: GO:0035773 +name: insulin secretion involved in cellular response to glucose stimulus +def: "The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus." [] +synonym: "insulin secretion involved in cellular response to glucose" EXACT [] +is_a: GO:0030073 ! insulin secretion +is_a: GO:0051649 ! establishment of localization in cell +intersection_of: GO:0030073 ! insulin secretion +intersection_of: BFO:0000050 GO:0071333 ! part of cellular response to glucose stimulus +relationship: BFO:0000050 GO:0071333 ! part of cellular response to glucose stimulus + +[Term] +id: GO:0035774 +name: positive regulation of insulin secretion involved in cellular response to glucose stimulus +def: "Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose." [] +synonym: "positive regulation of insulin secretion in response to glucose" EXACT [] +is_a: GO:0032024 ! positive regulation of insulin secretion +is_a: GO:0048584 ! positive regulation of response to stimulus +is_a: GO:0061178 ! regulation of insulin secretion involved in cellular response to glucose stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0035773 ! positively regulates insulin secretion involved in cellular response to glucose stimulus +relationship: RO:0002213 GO:0035773 ! positively regulates insulin secretion involved in cellular response to glucose stimulus + [Term] id: GO:0035898 name: parathyroid hormone secretion @@ -14694,6 +15561,12 @@ def: "The regulated release of aldosterone into the circulatory system. Aldoster is_a: GO:0015850 ! organic hydroxy compound transport is_a: GO:0035931 ! mineralocorticoid secretion +[Term] +id: GO:0035933 +name: glucocorticoid secretion +def: "The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood." [] +is_a: GO:0035930 ! corticosteroid hormone secretion + [Term] id: GO:0035935 name: androgen secretion @@ -14827,6 +15700,20 @@ synonym: "receptor activity" BROAD [] synonym: "receptor activity involved in signal transduction" EXACT [] is_a: GO:0060089 ! molecular transducer activity +[Term] +id: GO:0038024 +name: cargo receptor activity +def: "Combining selectively with an extracellular substance and delivering the substance into the cell via endocytosis." [] +synonym: "endocytic receptor activity" EXACT [] +synonym: "receptor activity" BROAD [] +synonym: "receptor activity involved in ligand uptake" EXACT [] +synonym: "receptor activity involved in receptor-mediated endocytosis" EXACT [] +synonym: "transport receptor activity" BROAD [] +is_a: GO:0003674 ! molecular_function +intersection_of: GO:0003674 ! molecular_function +intersection_of: BFO:0000050 GO:0006898 ! part of receptor-mediated endocytosis +relationship: BFO:0000050 GO:0006898 ! part of receptor-mediated endocytosis + [Term] id: GO:0038064 name: collagen receptor activity @@ -15495,6 +16382,12 @@ is_a: GO:0019814 ! immunoglobulin complex is_a: GO:0044421 ! extracellular region part relationship: BFO:0000050 GO:0005615 ! part of extracellular space +[Term] +id: GO:0042578 +name: phosphoric ester hydrolase activity +def: "Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3." [] +is_a: GO:0016788 ! hydrolase activity, acting on ester bonds + [Term] id: GO:0042579 name: microbody @@ -15535,6 +16428,12 @@ synonym: "positive regulation of homeostatic process" RELATED [] synonym: "regulation of homeostatic process" RELATED [] is_a: GO:0065008 ! regulation of biological quality +[Term] +id: GO:0042593 +name: glucose homeostasis +def: "Any process involved in the maintenance of an internal steady state of glucose within an organism or cell." [] +is_a: GO:0033500 ! carbohydrate homeostasis + [Term] id: GO:0042611 name: MHC protein complex @@ -15574,6 +16473,13 @@ synonym: "myogenesis" RELATED [] is_a: GO:0030154 ! cell differentiation relationship: BFO:0000050 GO:0061061 ! part of muscle structure development +[Term] +id: GO:0042713 +name: sperm ejaculation +def: "The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract." [] +is_a: GO:0048609 ! multicellular organismal reproductive process +relationship: BFO:0000050 GO:0007320 ! part of insemination + [Term] id: GO:0042737 name: drug catabolic process @@ -16015,6 +16921,21 @@ name: surfactant homeostasis def: "Any process involved in the maintenance of a steady-state level of the surface-active lipoprotein mixture which coats the alveoli." [] is_a: GO:0048875 ! chemical homeostasis within a tissue +[Term] +id: GO:0043143 +name: regulation of translation by machinery localization +def: "Any process in which proteins and protein complexes involved in translation are transported to, or maintained in, a specific location." [] +synonym: "establishment and maintenance of translational machinery localization" EXACT [] +synonym: "establishment and maintenance of translational protein localization" EXACT [] +synonym: "regulation of translation by machinery localisation" EXACT [] +synonym: "translational machinery localization" EXACT [] +synonym: "translational protein localization" EXACT [] +is_a: GO:0006417 ! regulation of translation +is_a: GO:0034613 ! cellular protein localization +intersection_of: GO:0008104 ! protein localization +intersection_of: BFO:0000050 GO:0006412 ! part of translation +relationship: BFO:0000050 GO:0006412 ! part of translation + [Term] id: GO:0043167 name: ion binding @@ -16134,6 +17055,54 @@ name: receptor complex def: "Any protein complex that undergoes combination with a hormone, neurotransmitter, drug or intracellular messenger to initiate a change in cell function." [] is_a: GO:0032991 ! protein-containing complex +[Term] +id: GO:0043242 +name: negative regulation of protein complex disassembly +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components." [] +synonym: "down regulation of protein complex disassembly" EXACT [] +synonym: "down-regulation of protein complex disassembly" EXACT [] +synonym: "downregulation of protein complex disassembly" EXACT [] +synonym: "inhibition of protein complex disassembly" NARROW [] +is_a: GO:0043244 ! regulation of protein complex disassembly +is_a: GO:0051129 ! negative regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0032984 ! negatively regulates protein-containing complex disassembly +relationship: RO:0002212 GO:0032984 ! negatively regulates protein-containing complex disassembly + +[Term] +id: GO:0043243 +name: positive regulation of protein complex disassembly +def: "Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components." [] +synonym: "activation of protein complex disassembly" NARROW [] +synonym: "stimulation of protein complex disassembly" NARROW [] +synonym: "up regulation of protein complex disassembly" EXACT [] +synonym: "up-regulation of protein complex disassembly" EXACT [] +synonym: "upregulation of protein complex disassembly" EXACT [] +is_a: GO:0043244 ! regulation of protein complex disassembly +is_a: GO:0051130 ! positive regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0032984 ! positively regulates protein-containing complex disassembly +relationship: RO:0002213 GO:0032984 ! positively regulates protein-containing complex disassembly + +[Term] +id: GO:0043244 +name: regulation of protein complex disassembly +def: "Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components." [] +is_a: GO:0051128 ! regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0032984 ! regulates protein-containing complex disassembly +relationship: RO:0002211 GO:0032984 ! regulates protein-containing complex disassembly + +[Term] +id: GO:0043254 +name: regulation of protein complex assembly +def: "Any process that modulates the frequency, rate or extent of protein complex assembly." [] +is_a: GO:0044087 ! regulation of cellular component biogenesis +is_a: GO:0051128 ! regulation of cellular component organization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0065003 ! regulates protein-containing complex assembly +relationship: RO:0002211 GO:0065003 ! regulates protein-containing complex assembly + [Term] id: GO:0043255 name: regulation of carbohydrate biosynthetic process @@ -16255,6 +17224,15 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0005515 ! regulates protein binding relationship: RO:0002211 GO:0005515 ! regulates protein binding +[Term] +id: GO:0043400 +name: cortisol secretion +def: "The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland." [] +synonym: "hydrocortisone secretion" EXACT [] +is_a: GO:0015850 ! organic hydroxy compound transport +is_a: GO:0015893 ! drug transport +is_a: GO:0035933 ! glucocorticoid secretion + [Term] id: GO:0043401 name: steroid hormone mediated signaling pathway @@ -16293,6 +17271,15 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0003700 ! negatively regulates DNA binding transcription factor activity relationship: RO:0002212 GO:0003700 ! negatively regulates DNA binding transcription factor activity +[Term] +id: GO:0043434 +name: response to peptide hormone +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals." [] +synonym: "response to peptide hormone stimulus" EXACT [] +synonym: "response to polypeptide hormone stimulus" EXACT [] +is_a: GO:0009725 ! response to hormone +is_a: GO:1901652 ! response to peptide + [Term] id: GO:0043436 name: oxoacid metabolic process @@ -16399,6 +17386,12 @@ def: "The chemical reactions and pathways resulting in the formation of an amide is_a: GO:0043603 ! cellular amide metabolic process is_a: GO:0044271 ! cellular nitrogen compound biosynthetic process +[Term] +id: GO:0043624 +name: cellular protein complex disassembly +def: "The disaggregation of a protein complex into its constituent components, occurring at the level of an individual cell. Protein complexes may have other associated non-protein prosthetic groups, such as nucleic acids, metal ions or carbohydrate groups." [] +is_a: GO:0032984 ! protein-containing complex disassembly + [Term] id: GO:0043648 name: dicarboxylic acid metabolic process @@ -16458,6 +17451,20 @@ intersection_of: GO:0001503 ! ossification intersection_of: BFO:0000050 GO:0046849 ! part of bone remodeling relationship: BFO:0000050 GO:0046849 ! part of bone remodeling +[Term] +id: GO:0043933 +name: protein-containing complex subunit organization +def: "Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex." [] +synonym: "cellular macromolecular complex organization" RELATED [] +synonym: "cellular macromolecular complex subunit organisation" RELATED [] +synonym: "cellular macromolecular complex subunit organization" RELATED [] +synonym: "macromolecular complex organization" RELATED [] +synonym: "macromolecular complex subunit organisation" RELATED [] +synonym: "macromolecular complex subunit organization" RELATED [] +synonym: "protein complex subunit organisation" EXACT [] +synonym: "protein complex subunit organization" EXACT [] +is_a: GO:0016043 ! cellular component organization + [Term] id: GO:0044042 name: glucan metabolic process @@ -16705,6 +17712,18 @@ synonym: "sulfur compound synthesis" EXACT [] is_a: GO:0006790 ! sulfur compound metabolic process is_a: GO:0044249 ! cellular biosynthetic process +[Term] +id: GO:0044273 +name: sulfur compound catabolic process +def: "The chemical reactions and pathways resulting in the breakdown of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione." [] +synonym: "sulfur catabolic process" NARROW [] +synonym: "sulfur catabolism" NARROW [] +synonym: "sulfur compound breakdown" EXACT [] +synonym: "sulfur compound catabolism" EXACT [] +synonym: "sulfur compound degradation" EXACT [] +is_a: GO:0006790 ! sulfur compound metabolic process +is_a: GO:0044248 ! cellular catabolic process + [Term] id: GO:0044281 name: small molecule metabolic process @@ -16728,6 +17747,14 @@ synonym: "small molecule biosynthesis" EXACT [] is_a: GO:0009058 ! biosynthetic process is_a: GO:0044281 ! small molecule metabolic process +[Term] +id: GO:0044381 +name: glucose import in response to insulin stimulus +def: "The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus." [] +synonym: "cellular glucose import in response to insulin stimulus" EXACT [] +is_a: GO:0046323 ! glucose import +relationship: BFO:0000050 GO:0032869 ! part of cellular response to insulin stimulus + [Term] id: GO:0044420 name: extracellular matrix component @@ -17166,6 +18193,16 @@ intersection_of: GO:0007267 ! cell-cell signaling intersection_of: BFO:0000050 GO:0045165 ! part of cell fate commitment relationship: BFO:0000050 GO:0045165 ! part of cell fate commitment +[Term] +id: GO:0045182 +name: translation regulator activity +def: "Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome." [] +synonym: "translation factor activity" EXACT [] +is_a: GO:0003674 ! molecular_function +intersection_of: GO:0003674 ! molecular_function +intersection_of: BFO:0000050 GO:0006417 ! part of regulation of translation +relationship: BFO:0000050 GO:0006417 ! part of regulation of translation + [Term] id: GO:0045184 name: establishment of protein localization @@ -18285,6 +19322,30 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0060271 ! positively regulates cilium assembly relationship: RO:0002213 GO:0060271 ! positively regulates cilium assembly +[Term] +id: GO:0045727 +name: positive regulation of translation +def: "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA." [] +synonym: "activation of protein biosynthetic process" NARROW [] +synonym: "positive regulation of protein anabolism" EXACT [] +synonym: "positive regulation of protein biosynthesis" EXACT [] +synonym: "positive regulation of protein biosynthetic process" EXACT [] +synonym: "positive regulation of protein formation" EXACT [] +synonym: "positive regulation of protein synthesis" EXACT [] +synonym: "stimulation of protein biosynthetic process" NARROW [] +synonym: "up regulation of protein biosynthetic process" EXACT [] +synonym: "up-regulation of protein biosynthetic process" EXACT [] +synonym: "upregulation of protein biosynthetic process" EXACT [] +is_a: GO:0006417 ! regulation of translation +is_a: GO:0010557 ! positive regulation of macromolecule biosynthetic process +is_a: GO:0010628 ! positive regulation of gene expression +is_a: GO:0031328 ! positive regulation of cellular biosynthetic process +is_a: GO:0032270 ! positive regulation of cellular protein metabolic process +is_a: GO:0034250 ! positive regulation of cellular amide metabolic process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006412 ! positively regulates translation +relationship: RO:0002213 GO:0006412 ! positively regulates translation + [Term] id: GO:0045738 name: negative regulation of DNA repair @@ -18795,6 +19856,31 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0014706 ! positively regulates striated muscle tissue development relationship: RO:0002213 GO:0014706 ! positively regulates striated muscle tissue development +[Term] +id: GO:0045859 +name: regulation of protein kinase activity +def: "Any process that modulates the frequency, rate or extent of protein kinase activity." [] +is_a: GO:0001932 ! regulation of protein phosphorylation +is_a: GO:0043549 ! regulation of kinase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0004672 ! regulates protein kinase activity +relationship: RO:0002211 GO:0004672 ! regulates protein kinase activity + +[Term] +id: GO:0045860 +name: positive regulation of protein kinase activity +def: "Any process that activates or increases the frequency, rate or extent of protein kinase activity." [] +synonym: "stimulation of protein kinase activity" NARROW [] +synonym: "up regulation of protein kinase activity" EXACT [] +synonym: "up-regulation of protein kinase activity" EXACT [] +synonym: "upregulation of protein kinase activity" EXACT [] +is_a: GO:0001934 ! positive regulation of protein phosphorylation +is_a: GO:0033674 ! positive regulation of kinase activity +is_a: GO:0045859 ! regulation of protein kinase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0004672 ! positively regulates protein kinase activity +relationship: RO:0002213 GO:0004672 ! positively regulates protein kinase activity + [Term] id: GO:0045861 name: negative regulation of proteolysis @@ -18908,6 +19994,66 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006351 ! positively regulates transcription, DNA-templated relationship: RO:0002213 GO:0006351 ! positively regulates transcription, DNA-templated +[Term] +id: GO:0045900 +name: negative regulation of translational elongation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation." [] +synonym: "down regulation of translational elongation" EXACT [] +synonym: "down-regulation of translational elongation" EXACT [] +synonym: "downregulation of translational elongation" EXACT [] +synonym: "inhibition of translational elongation" NARROW [] +is_a: GO:0006448 ! regulation of translational elongation +is_a: GO:0017148 ! negative regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006414 ! negatively regulates translational elongation +relationship: RO:0002212 GO:0006414 ! negatively regulates translational elongation + +[Term] +id: GO:0045901 +name: positive regulation of translational elongation +def: "Any process that activates or increases the frequency, rate or extent of translational elongation." [] +synonym: "activation of translational elongation" NARROW [] +synonym: "stimulation of translational elongation" NARROW [] +synonym: "up regulation of translational elongation" EXACT [] +synonym: "up-regulation of translational elongation" EXACT [] +synonym: "upregulation of translational elongation" EXACT [] +is_a: GO:0006448 ! regulation of translational elongation +is_a: GO:0045727 ! positive regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006414 ! positively regulates translational elongation +relationship: RO:0002213 GO:0006414 ! positively regulates translational elongation + +[Term] +id: GO:0045904 +name: negative regulation of translational termination +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of translational termination." [] +synonym: "down regulation of translational termination" EXACT [] +synonym: "down-regulation of translational termination" EXACT [] +synonym: "downregulation of translational termination" EXACT [] +synonym: "inhibition of translational termination" NARROW [] +is_a: GO:0006449 ! regulation of translational termination +is_a: GO:0017148 ! negative regulation of translation +is_a: GO:0043242 ! negative regulation of protein complex disassembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006415 ! negatively regulates translational termination +relationship: RO:0002212 GO:0006415 ! negatively regulates translational termination + +[Term] +id: GO:0045905 +name: positive regulation of translational termination +def: "Any process that activates or increases the frequency, rate or extent of translational termination." [] +synonym: "activation of translational termination" NARROW [] +synonym: "stimulation of translational termination" NARROW [] +synonym: "up regulation of translational termination" EXACT [] +synonym: "up-regulation of translational termination" EXACT [] +synonym: "upregulation of translational termination" EXACT [] +is_a: GO:0006449 ! regulation of translational termination +is_a: GO:0043243 ! positive regulation of protein complex disassembly +is_a: GO:0045727 ! positive regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006415 ! positively regulates translational termination +relationship: RO:0002213 GO:0006415 ! positively regulates translational termination + [Term] id: GO:0045906 name: negative regulation of vasoconstriction @@ -19272,6 +20418,35 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0006366 ! positively regulates transcription by RNA polymerase II relationship: RO:0002213 GO:0006366 ! positively regulates transcription by RNA polymerase II +[Term] +id: GO:0045947 +name: negative regulation of translational initiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation." [] +synonym: "down regulation of translational initiation" EXACT [] +synonym: "down-regulation of translational initiation" EXACT [] +synonym: "downregulation of translational initiation" EXACT [] +synonym: "inhibition of translational initiation" NARROW [] +is_a: GO:0006446 ! regulation of translational initiation +is_a: GO:0017148 ! negative regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006413 ! negatively regulates translational initiation +relationship: RO:0002212 GO:0006413 ! negatively regulates translational initiation + +[Term] +id: GO:0045948 +name: positive regulation of translational initiation +def: "Any process that activates or increases the frequency, rate or extent of translational initiation." [] +synonym: "activation of translational initiation" NARROW [] +synonym: "stimulation of translational initiation" NARROW [] +synonym: "up regulation of translational initiation" EXACT [] +synonym: "up-regulation of translational initiation" EXACT [] +synonym: "upregulation of translational initiation" EXACT [] +is_a: GO:0006446 ! regulation of translational initiation +is_a: GO:0045727 ! positive regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006413 ! positively regulates translational initiation +relationship: RO:0002213 GO:0006413 ! positively regulates translational initiation + [Term] id: GO:0045980 name: negative regulation of nucleotide metabolic process @@ -19565,6 +20740,54 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002212 GO:0019395 ! negatively regulates fatty acid oxidation relationship: RO:0002212 GO:0019395 ! negatively regulates fatty acid oxidation +[Term] +id: GO:0046323 +name: glucose import +def: "The directed movement of the hexose monosaccharide glucose into a cell or organelle." [] +synonym: "glucose uptake" EXACT [] +is_a: GO:1904659 ! glucose transmembrane transport + +[Term] +id: GO:0046324 +name: regulation of glucose import +def: "Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle." [] +synonym: "regulation of glucose uptake" EXACT [] +is_a: GO:0010827 ! regulation of glucose transmembrane transport +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0046323 ! regulates glucose import +relationship: RO:0002211 GO:0046323 ! regulates glucose import + +[Term] +id: GO:0046325 +name: negative regulation of glucose import +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle." [] +synonym: "down regulation of glucose import" EXACT [] +synonym: "down-regulation of glucose import" EXACT [] +synonym: "downregulation of glucose import" EXACT [] +synonym: "inhibition of glucose import" NARROW [] +synonym: "negative regulation of glucose uptake" EXACT [] +is_a: GO:0010829 ! negative regulation of glucose transmembrane transport +is_a: GO:0046324 ! regulation of glucose import +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0046323 ! negatively regulates glucose import +relationship: RO:0002212 GO:0046323 ! negatively regulates glucose import + +[Term] +id: GO:0046326 +name: positive regulation of glucose import +def: "Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle." [] +synonym: "activation of glucose import" NARROW [] +synonym: "positive regulation of glucose uptake" EXACT [] +synonym: "stimulation of glucose import" NARROW [] +synonym: "up regulation of glucose import" EXACT [] +synonym: "up-regulation of glucose import" EXACT [] +synonym: "upregulation of glucose import" EXACT [] +is_a: GO:0010828 ! positive regulation of glucose transmembrane transport +is_a: GO:0046324 ! regulation of glucose import +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0046323 ! positively regulates glucose import +relationship: RO:0002213 GO:0046323 ! positively regulates glucose import + [Term] id: GO:0046364 name: monosaccharide biosynthetic process @@ -20182,6 +21405,47 @@ is_a: GO:0022412 ! cellular process involved in reproduction in multicellular or is_a: GO:0048469 ! cell maturation relationship: BFO:0000050 GO:0007286 ! part of spermatid development +[Term] +id: GO:0048259 +name: regulation of receptor-mediated endocytosis +def: "Any process that modulates the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport." [] +synonym: "regulation of receptor mediated endocytosis" EXACT [] +is_a: GO:0030100 ! regulation of endocytosis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0006898 ! regulates receptor-mediated endocytosis +relationship: RO:0002211 GO:0006898 ! regulates receptor-mediated endocytosis + +[Term] +id: GO:0048260 +name: positive regulation of receptor-mediated endocytosis +def: "Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport." [] +synonym: "activation of receptor mediated endocytosis" NARROW [] +synonym: "positive regulation of receptor mediated endocytosis" EXACT [] +synonym: "stimulation of receptor mediated endocytosis" NARROW [] +synonym: "up regulation of receptor mediated endocytosis" EXACT [] +synonym: "up-regulation of receptor mediated endocytosis" EXACT [] +synonym: "upregulation of receptor mediated endocytosis" EXACT [] +is_a: GO:0045807 ! positive regulation of endocytosis +is_a: GO:0048259 ! regulation of receptor-mediated endocytosis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0006898 ! positively regulates receptor-mediated endocytosis +relationship: RO:0002213 GO:0006898 ! positively regulates receptor-mediated endocytosis + +[Term] +id: GO:0048261 +name: negative regulation of receptor-mediated endocytosis +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport." [] +synonym: "down regulation of receptor mediated endocytosis" EXACT [] +synonym: "down-regulation of receptor mediated endocytosis" EXACT [] +synonym: "downregulation of receptor mediated endocytosis" EXACT [] +synonym: "inhibition of receptor mediated endocytosis" NARROW [] +synonym: "negative regulation of receptor mediated endocytosis" EXACT [] +is_a: GO:0045806 ! negative regulation of endocytosis +is_a: GO:0048259 ! regulation of receptor-mediated endocytosis +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0006898 ! negatively regulates receptor-mediated endocytosis +relationship: RO:0002212 GO:0006898 ! negatively regulates receptor-mediated endocytosis + [Term] id: GO:0048285 name: organelle fission @@ -20628,6 +21892,22 @@ name: chemical homeostasis def: "Any biological process involved in the maintenance of an internal steady state of a chemical." [] is_a: GO:0042592 ! homeostatic process +[Term] +id: GO:0050308 +name: sugar-phosphatase activity +def: "Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate." [] +synonym: "sugar-phosphate phosphatase activity" EXACT [] +synonym: "sugar-phosphate phosphohydrolase activity" EXACT [] +is_a: GO:0019203 ! carbohydrate phosphatase activity + +[Term] +id: GO:0050309 +name: sugar-terminal-phosphatase activity +def: "Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate." [] +synonym: "sugar-omega-phosphate phosphohydrolase activity" EXACT [] +synonym: "xylitol-5-phosphatase activity" NARROW [] +is_a: GO:0050308 ! sugar-phosphatase activity + [Term] id: GO:0050432 name: catecholamine secretion @@ -22959,6 +24239,47 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0051458 ! positively regulates corticotropin secretion relationship: RO:0002213 GO:0051458 ! positively regulates corticotropin secretion +[Term] +id: GO:0051462 +name: regulation of cortisol secretion +def: "Any process that modulates the frequency, rate or extent of the regulated release of cortisol from a cell." [] +is_a: GO:2000849 ! regulation of glucocorticoid secretion +is_a: GO:2001023 ! regulation of response to drug +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0043400 ! regulates cortisol secretion +relationship: RO:0002211 GO:0043400 ! regulates cortisol secretion + +[Term] +id: GO:0051463 +name: negative regulation of cortisol secretion +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of cortisol from a cell." [] +synonym: "down regulation of cortisol secretion" EXACT [] +synonym: "down-regulation of cortisol secretion" EXACT [] +synonym: "downregulation of cortisol secretion" EXACT [] +synonym: "inhibition of cortisol secretion" NARROW [] +is_a: GO:0051462 ! regulation of cortisol secretion +is_a: GO:2000850 ! negative regulation of glucocorticoid secretion +is_a: GO:2001024 ! negative regulation of response to drug +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0043400 ! negatively regulates cortisol secretion +relationship: RO:0002212 GO:0043400 ! negatively regulates cortisol secretion + +[Term] +id: GO:0051464 +name: positive regulation of cortisol secretion +def: "Any process that activates or increases the frequency, rate or extent of the regulated release of cortisol from a cell." [] +synonym: "activation of cortisol secretion" NARROW [] +synonym: "stimulation of cortisol secretion" NARROW [] +synonym: "up regulation of cortisol secretion" EXACT [] +synonym: "up-regulation of cortisol secretion" EXACT [] +synonym: "upregulation of cortisol secretion" EXACT [] +is_a: GO:0051462 ! regulation of cortisol secretion +is_a: GO:2000851 ! positive regulation of glucocorticoid secretion +is_a: GO:2001025 ! positive regulation of response to drug +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0043400 ! positively regulates cortisol secretion +relationship: RO:0002213 GO:0043400 ! positively regulates cortisol secretion + [Term] id: GO:0051493 name: regulation of cytoskeleton organization @@ -24526,6 +25847,31 @@ name: muscle structure development def: "The progression of a muscle structure over time, from its formation to its mature state. Muscle structures are contractile cells, tissues or organs that are found in multicellular organisms." [] is_a: GO:0048856 ! anatomical structure development +[Term] +id: GO:0061178 +name: regulation of insulin secretion involved in cellular response to glucose stimulus +def: "Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose." [] +synonym: "regulation of insulin secretion in response to glucose" EXACT [] +is_a: GO:0048583 ! regulation of response to stimulus +is_a: GO:0050796 ! regulation of insulin secretion +is_a: GO:0060341 ! regulation of cellular localization +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0035773 ! regulates insulin secretion involved in cellular response to glucose stimulus +relationship: RO:0002211 GO:0035773 ! regulates insulin secretion involved in cellular response to glucose stimulus + +[Term] +id: GO:0061179 +name: negative regulation of insulin secretion involved in cellular response to glucose stimulus +def: "Any process that decreases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose." [] +synonym: "negative regulation of insulin secretion in response to glucose" RELATED [] +synonym: "negative regulation of insulin secretion involved in cellular response to glucose" EXACT [] +is_a: GO:0046676 ! negative regulation of insulin secretion +is_a: GO:0048585 ! negative regulation of response to stimulus +is_a: GO:0061178 ! regulation of insulin secretion involved in cellular response to glucose stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0035773 ! negatively regulates insulin secretion involved in cellular response to glucose stimulus +relationship: RO:0002212 GO:0035773 ! negatively regulates insulin secretion involved in cellular response to glucose stimulus + [Term] id: GO:0061307 name: cardiac neural crest cell differentiation involved in heart development @@ -24583,6 +25929,12 @@ name: protein localization to cilium def: "A process in which a protein is transported to, or maintained in, a location within a cilium." [] is_a: GO:0033365 ! protein localization to organelle +[Term] +id: GO:0061547 +name: glycogen synthase activity, transferring glucose-1-phosphate +def: "Catalysis of the reaction: UDP-glucose + (1,4)-alpha-D-glucosyl(n) = UMP + (1,4)-alpha-D-glucosyl(n)-glucose-1-phosphate." [] +is_a: GO:0016772 ! transferase activity, transferring phosphorus-containing groups + [Term] id: GO:0061615 name: glycolytic process through fructose-6-phosphate @@ -24645,6 +25997,18 @@ def: "A process that coontributes to the second meiotic division. The second mei synonym: "second meiotic division" EXACT [] is_a: GO:1903046 ! meiotic cell cycle process +[Term] +id: GO:0065003 +name: protein-containing complex assembly +def: "The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex." [] +synonym: "chaperone activity" RELATED [] +synonym: "macromolecular complex assembly" RELATED [] +synonym: "macromolecule complex assembly" RELATED [] +synonym: "protein complex assembly" RELATED [] +synonym: "protein complex formation" RELATED [] +is_a: GO:0022607 ! cellular component assembly +is_a: GO:0043933 ! protein-containing complex subunit organization + [Term] id: GO:0065007 name: biological regulation @@ -24749,6 +26113,112 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0070091 ! positively regulates glucagon secretion relationship: RO:0002213 GO:0070091 ! positively regulates glucagon secretion +[Term] +id: GO:0070124 +name: mitochondrial translational initiation +def: "The process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA." [] +synonym: "mitochondrial translation initiation" EXACT [] +is_a: GO:0006413 ! translational initiation +intersection_of: GO:0006413 ! translational initiation +intersection_of: BFO:0000066 GO:0005739 ! occurs in mitochondrion +relationship: BFO:0000050 GO:0032543 ! part of mitochondrial translation + +[Term] +id: GO:0070125 +name: mitochondrial translational elongation +def: "The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in a mitochondrion." [] +synonym: "mitochondrial translation elongation" EXACT [] +is_a: GO:0006414 ! translational elongation +intersection_of: GO:0006414 ! translational elongation +intersection_of: BFO:0000066 GO:0005739 ! occurs in mitochondrion +relationship: BFO:0000050 GO:0032543 ! part of mitochondrial translation + +[Term] +id: GO:0070126 +name: mitochondrial translational termination +def: "The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa)." [] +synonym: "mitochondrial translation termination" EXACT [] +is_a: GO:0006415 ! translational termination +intersection_of: GO:0006415 ! translational termination +intersection_of: BFO:0000066 GO:0005739 ! occurs in mitochondrion +relationship: BFO:0000050 GO:0032543 ! part of mitochondrial translation + +[Term] +id: GO:0070129 +name: regulation of mitochondrial translation +def: "Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion." [] +synonym: "regulation of mitochondrial protein anabolism" EXACT [] +synonym: "regulation of mitochondrial protein biosynthesis" EXACT [] +synonym: "regulation of mitochondrial protein formation" EXACT [] +synonym: "regulation of mitochondrial protein synthesis" EXACT [] +is_a: GO:0006417 ! regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0032543 ! regulates mitochondrial translation +relationship: RO:0002211 GO:0032543 ! regulates mitochondrial translation + +[Term] +id: GO:0070130 +name: negative regulation of mitochondrial translation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion." [] +synonym: "negative regulation of mitochondrial protein anabolism" EXACT [] +synonym: "negative regulation of mitochondrial protein biosynthesis" EXACT [] +synonym: "negative regulation of mitochondrial protein formation" EXACT [] +synonym: "negative regulation of mitochondrial protein synthesis" EXACT [] +is_a: GO:0017148 ! negative regulation of translation +is_a: GO:0070129 ! regulation of mitochondrial translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0032543 ! negatively regulates mitochondrial translation +relationship: RO:0002212 GO:0032543 ! negatively regulates mitochondrial translation + +[Term] +id: GO:0070131 +name: positive regulation of mitochondrial translation +def: "Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion." [] +synonym: "positive regulation of mitochondrial protein anabolism" EXACT [] +synonym: "positive regulation of mitochondrial protein biosynthesis" EXACT [] +synonym: "positive regulation of mitochondrial protein formation" EXACT [] +synonym: "positive regulation of mitochondrial protein synthesis" EXACT [] +is_a: GO:0045727 ! positive regulation of translation +is_a: GO:0070129 ! regulation of mitochondrial translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0032543 ! positively regulates mitochondrial translation +relationship: RO:0002213 GO:0032543 ! positively regulates mitochondrial translation + +[Term] +id: GO:0070132 +name: regulation of mitochondrial translational initiation +def: "Any process that modulates the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion." [] +synonym: "regulation of mitochondrial translation initiation" EXACT [] +is_a: GO:0006446 ! regulation of translational initiation +is_a: GO:0070129 ! regulation of mitochondrial translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0070124 ! regulates mitochondrial translational initiation +relationship: RO:0002211 GO:0070124 ! regulates mitochondrial translational initiation + +[Term] +id: GO:0070133 +name: negative regulation of mitochondrial translational initiation +def: "Any process that stops, prevents, or reduces the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion." [] +synonym: "negative regulation of mitochondrial translation initiation" EXACT [] +is_a: GO:0045947 ! negative regulation of translational initiation +is_a: GO:0070130 ! negative regulation of mitochondrial translation +is_a: GO:0070132 ! regulation of mitochondrial translational initiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0070124 ! negatively regulates mitochondrial translational initiation +relationship: RO:0002212 GO:0070124 ! negatively regulates mitochondrial translational initiation + +[Term] +id: GO:0070134 +name: positive regulation of mitochondrial translational initiation +def: "Any process that activates or increases the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion." [] +synonym: "positive regulation of mitochondrial translation initiation" EXACT [] +is_a: GO:0045948 ! positive regulation of translational initiation +is_a: GO:0070131 ! positive regulation of mitochondrial translation +is_a: GO:0070132 ! regulation of mitochondrial translational initiation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0070124 ! positively regulates mitochondrial translational initiation +relationship: RO:0002213 GO:0070124 ! positively regulates mitochondrial translational initiation + [Term] id: GO:0070161 name: anchoring junction @@ -24967,6 +26437,15 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002211 GO:0016485 ! regulates protein processing relationship: RO:0002211 GO:0016485 ! regulates protein processing +[Term] +id: GO:0070626 +name: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity +def: "Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide." [] +synonym: "adenylosuccinase activity" BROAD [] +synonym: "adenylosuccinate lyase activity" BROAD [] +synonym: "succino AMP-lyase activity" BROAD [] +is_a: GO:0016842 ! amidine-lyase activity + [Term] id: GO:0070640 name: vitamin D3 metabolic process @@ -25228,6 +26707,36 @@ def: "Any process that results in a change in state or activity of a cell (in te is_a: GO:0010033 ! response to organic substance is_a: GO:0070887 ! cellular response to chemical stimulus +[Term] +id: GO:0071322 +name: cellular response to carbohydrate stimulus +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus." [] +is_a: GO:0009743 ! response to carbohydrate +is_a: GO:0071310 ! cellular response to organic substance +is_a: GO:1901701 ! cellular response to oxygen-containing compound + +[Term] +id: GO:0071326 +name: cellular response to monosaccharide stimulus +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus." [] +is_a: GO:0034284 ! response to monosaccharide +is_a: GO:0071322 ! cellular response to carbohydrate stimulus + +[Term] +id: GO:0071331 +name: cellular response to hexose stimulus +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus." [] +is_a: GO:0009746 ! response to hexose +is_a: GO:0071326 ! cellular response to monosaccharide stimulus + +[Term] +id: GO:0071333 +name: cellular response to glucose stimulus +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus." [] +is_a: GO:0001678 ! cellular glucose homeostasis +is_a: GO:0009749 ! response to glucose +is_a: GO:0071331 ! cellular response to hexose stimulus + [Term] id: GO:0071345 name: cellular response to cytokine stimulus @@ -25235,6 +26744,15 @@ def: "Any process that results in a change in state or activity of a cell (in te is_a: GO:0034097 ! response to cytokine is_a: GO:0071310 ! cellular response to organic substance +[Term] +id: GO:0071375 +name: cellular response to peptide hormone stimulus +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals." [] +synonym: "cellular response to polypeptide hormone stimulus" EXACT [] +is_a: GO:0032870 ! cellular response to hormone stimulus +is_a: GO:0043434 ! response to peptide hormone +is_a: GO:1901653 ! cellular response to peptide + [Term] id: GO:0071383 name: cellular response to steroid hormone stimulus @@ -25259,6 +26777,16 @@ synonym: "cellular response to organic cyclic substance" EXACT [] is_a: GO:0014070 ! response to organic cyclic compound is_a: GO:0071310 ! cellular response to organic substance +[Term] +id: GO:0071417 +name: cellular response to organonitrogen compound +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond." [] +synonym: "cellular response to organic nitrogen" EXACT [] +is_a: GO:0010243 ! response to organonitrogen compound +is_a: GO:0071310 ! cellular response to organic substance +is_a: GO:0071495 ! cellular response to endogenous stimulus +is_a: GO:1901699 ! cellular response to nitrogen compound + [Term] id: GO:0071478 name: cellular response to radiation @@ -25415,6 +26943,45 @@ name: IgM immunoglobulin complex def: "A protein complex composed of two identical immunoglobulin heavy chains of the IgM isotype and two identical immunoglobulin light chains, held together by disulfide bonds, and in its circulating form complexed with J chain in polymeric forms. An IgM immunoglobulin complex may be embedded in the plasma membrane or present in the extracellular space, in mucosal areas or other tissues, or circulating in the blood or lymph." [] is_a: GO:0019814 ! immunoglobulin complex +[Term] +id: GO:0071825 +name: protein-lipid complex subunit organization +def: "Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein-lipid complex." [] +synonym: "protein-lipid complex subunit organisation" EXACT [] +is_a: GO:0043933 ! protein-containing complex subunit organization + +[Term] +id: GO:0071826 +name: ribonucleoprotein complex subunit organization +def: "Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex." [] +synonym: "protein-RNA complex subunit organization" EXACT [] +synonym: "ribonucleoprotein complex subunit organisation" EXACT [] +synonym: "RNA-protein complex subunit organization" EXACT [] +is_a: GO:0043933 ! protein-containing complex subunit organization + +[Term] +id: GO:0071827 +name: plasma lipoprotein particle organization +def: "A protein-lipid complex subunit organization process that results in the formation, disassembly, or alteration of a plasma lipoprotein particle. A plasma lipoprotein particle is a spherical particle with a hydrophobic core of triglycerides and/or cholesterol esters, surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins." [] +synonym: "plasma lipoprotein particle organisation" EXACT [] +is_a: GO:0032501 ! multicellular organismal process +is_a: GO:0043062 ! extracellular structure organization +is_a: GO:0071825 ! protein-lipid complex subunit organization + +[Term] +id: GO:0071829 +name: plasma lipoprotein particle disassembly +def: "The disaggregation of a plasma lipoprotein particle into its constituent components." [] +is_a: GO:0032987 ! protein-lipid complex disassembly +is_a: GO:0071827 ! plasma lipoprotein particle organization +relationship: BFO:0000050 GO:0097006 ! part of regulation of plasma lipoprotein particle levels + +[Term] +id: GO:0071830 +name: triglyceride-rich lipoprotein particle clearance +def: "The process in which a triglyceride-rich lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded." [] +is_a: GO:0034381 ! plasma lipoprotein particle clearance + [Term] id: GO:0071840 name: cellular component organization or biogenesis @@ -25424,6 +26991,35 @@ synonym: "cellular component organisation or biogenesis at cellular level" EXACT synonym: "cellular component organization or biogenesis at cellular level" EXACT [] is_a: GO:0008150 ! biological_process +[Term] +id: GO:0071900 +name: regulation of protein serine/threonine kinase activity +def: "Any process that modulates the rate, frequency, or extent of protein serine/threonine kinase activity." [] +is_a: GO:0045859 ! regulation of protein kinase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0004674 ! regulates protein serine/threonine kinase activity +relationship: RO:0002211 GO:0004674 ! regulates protein serine/threonine kinase activity + +[Term] +id: GO:0071901 +name: negative regulation of protein serine/threonine kinase activity +def: "Any process that decreases the rate, frequency, or extent of protein serine/threonine kinase activity." [] +is_a: GO:0006469 ! negative regulation of protein kinase activity +is_a: GO:0071900 ! regulation of protein serine/threonine kinase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0004674 ! negatively regulates protein serine/threonine kinase activity +relationship: RO:0002212 GO:0004674 ! negatively regulates protein serine/threonine kinase activity + +[Term] +id: GO:0071902 +name: positive regulation of protein serine/threonine kinase activity +def: "Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity." [] +is_a: GO:0045860 ! positive regulation of protein kinase activity +is_a: GO:0071900 ! regulation of protein serine/threonine kinase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0004674 ! positively regulates protein serine/threonine kinase activity +relationship: RO:0002213 GO:0004674 ! positively regulates protein serine/threonine kinase activity + [Term] id: GO:0071941 name: nitrogen cycle metabolic process @@ -26157,6 +27753,13 @@ def: "The chemical reactions and pathways resulting in the breakdown of a storag is_a: GO:0000272 ! polysaccharide catabolic process is_a: GO:0061622 ! glycolytic process through glucose-1-phosphate +[Term] +id: GO:0097006 +name: regulation of plasma lipoprotein particle levels +def: "Any process involved in the maintenance of internal levels of plasma lipoprotein particles within an organism." [] +synonym: "plasma lipoprotein particle homeostasis" NARROW [] +is_a: GO:0050789 ! regulation of biological process + [Term] id: GO:0097014 name: ciliary plasm @@ -26725,6 +28328,16 @@ intersection_of: GO:0016192 ! vesicle-mediated transport intersection_of: BFO:0000066 GO:0045202 ! occurs in synapse relationship: BFO:0000066 GO:0045202 ! occurs in synapse +[Term] +id: GO:0099004 +name: calmodulin dependent kinase signaling pathway +def: "Any signal transduction pathway involving calmodulin dependent kinase activity." [] +synonym: "CAMK signaling pathway" EXACT [] +is_a: GO:0007165 ! signal transduction +intersection_of: GO:0007165 ! signal transduction +intersection_of: BFO:0000051 GO:0004683 ! has_part calmodulin-dependent protein kinase activity +relationship: BFO:0000051 GO:0004683 ! has_part calmodulin-dependent protein kinase activity + [Term] id: GO:0099023 name: tethering complex @@ -26900,6 +28513,17 @@ name: trans-synaptic signaling def: "Cell-cell signaling in either direction across the synaptic cleft." [] is_a: GO:0099536 ! synaptic signaling +[Term] +id: GO:0099547 +name: regulation of translation at synapse, modulating synaptic transmission +def: "Any process that modulates synaptic transmission by regulating translation occurring at the synapse." [] +is_a: GO:0006417 ! regulation of translation +is_a: GO:0050804 ! modulation of chemical synaptic transmission +intersection_of: GO:0006417 ! regulation of translation +intersection_of: BFO:0000066 GO:0045202 ! occurs in synapse +intersection_of: RO:0002211 GO:0007268 ! regulates chemical synaptic transmission +relationship: BFO:0000066 GO:0045202 ! occurs in synapse + [Term] id: GO:0099550 name: trans-synaptic signaling, modulating synaptic transmission @@ -26930,6 +28554,26 @@ is_a: GO:0044444 ! cytoplasmic part intersection_of: GO:0005737 ! cytoplasm intersection_of: BFO:0000050 GO:0005737 ! part of cytoplasm +[Term] +id: GO:0099577 +name: regulation of translation at presynapse, modulating synaptic transmission +def: "Any process that modulates synaptic transmission by regulating translation occurring at the presynapse." [] +is_a: GO:0099171 ! presynaptic modulation of chemical synaptic transmission +is_a: GO:0099547 ! regulation of translation at synapse, modulating synaptic transmission +intersection_of: GO:0006417 ! regulation of translation +intersection_of: BFO:0000066 GO:0098793 ! occurs in presynapse +intersection_of: RO:0002211 GO:0007268 ! regulates chemical synaptic transmission + +[Term] +id: GO:0099578 +name: regulation of translation at postsynapse, modulating synaptic transmission +def: "Any process that modulates synaptic transmission by regulating translation occurring at the postsynapse." [] +is_a: GO:0099170 ! postsynaptic modulation of chemical synaptic transmission +is_a: GO:0099547 ! regulation of translation at synapse, modulating synaptic transmission +intersection_of: GO:0006417 ! regulation of translation +intersection_of: BFO:0000066 GO:0098794 ! occurs in postsynapse +intersection_of: RO:0002211 GO:0007268 ! regulates chemical synaptic transmission + [Term] id: GO:0099601 name: regulation of neurotransmitter receptor activity @@ -26958,6 +28602,15 @@ is_a: GO:0099240 ! intrinsic component of synaptic membrane intersection_of: GO:0016021 ! integral component of membrane intersection_of: BFO:0000050 GO:0097060 ! part of synaptic membrane +[Term] +id: GO:0100002 +name: negative regulation of protein kinase activity by protein phosphorylation +def: "Any protein phosphorylation process that negatively_regulates protein kinase activity" [] +is_a: GO:0006468 ! protein phosphorylation +is_a: GO:0006469 ! negative regulation of protein kinase activity +intersection_of: GO:0006468 ! protein phosphorylation +intersection_of: RO:0002212 GO:0004672 ! negatively regulates protein kinase activity + [Term] id: GO:0100017 name: negative regulation of cell-cell adhesion by transcription from RNA polymerase II promoter @@ -26967,6 +28620,15 @@ is_a: GO:0022408 ! negative regulation of cell-cell adhesion intersection_of: GO:0006366 ! transcription by RNA polymerase II intersection_of: RO:0002212 GO:0098609 ! negatively regulates cell-cell adhesion +[Term] +id: GO:0100018 +name: regulation of glucose import by transcription from RNA polymerase II promoter +def: "Any transcription from RNA polymerase II promoter process that regulates glucose import" [] +is_a: GO:0046324 ! regulation of glucose import +is_a: GO:0100020 ! regulation of transport by transcription from RNA polymerase II promoter +intersection_of: GO:0006366 ! transcription by RNA polymerase II +intersection_of: RO:0002211 GO:0046323 ! regulates glucose import + [Term] id: GO:0100020 name: regulation of transport by transcription from RNA polymerase II promoter @@ -27414,6 +29076,46 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0007274 ! positively regulates neuromuscular synaptic transmission relationship: RO:0002213 GO:0007274 ! positively regulates neuromuscular synaptic transmission +[Term] +id: GO:1900076 +name: regulation of cellular response to insulin stimulus +def: "Any process that modulates the frequency, rate or extent of cellular response to insulin stimulus." [] +is_a: GO:0048583 ! regulation of response to stimulus +is_a: GO:0050794 ! regulation of cellular process +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0032869 ! regulates cellular response to insulin stimulus +relationship: RO:0002211 GO:0032869 ! regulates cellular response to insulin stimulus + +[Term] +id: GO:1900077 +name: negative regulation of cellular response to insulin stimulus +def: "Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to insulin stimulus." [] +synonym: "down regulation of cellular response to insulin stimulus" EXACT [] +synonym: "down-regulation of cellular response to insulin stimulus" EXACT [] +synonym: "downregulation of cellular response to insulin stimulus" EXACT [] +synonym: "inhibition of cellular response to insulin stimulus" NARROW [] +is_a: GO:0048523 ! negative regulation of cellular process +is_a: GO:0048585 ! negative regulation of response to stimulus +is_a: GO:1900076 ! regulation of cellular response to insulin stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0032869 ! negatively regulates cellular response to insulin stimulus +relationship: RO:0002212 GO:0032869 ! negatively regulates cellular response to insulin stimulus + +[Term] +id: GO:1900078 +name: positive regulation of cellular response to insulin stimulus +def: "Any process that activates or increases the frequency, rate or extent of cellular response to insulin stimulus." [] +synonym: "activation of cellular response to insulin stimulus" NARROW [] +synonym: "up regulation of cellular response to insulin stimulus" EXACT [] +synonym: "up-regulation of cellular response to insulin stimulus" EXACT [] +synonym: "upregulation of cellular response to insulin stimulus" EXACT [] +is_a: GO:0048522 ! positive regulation of cellular process +is_a: GO:0048584 ! positive regulation of response to stimulus +is_a: GO:1900076 ! regulation of cellular response to insulin stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0032869 ! positively regulates cellular response to insulin stimulus +relationship: RO:0002213 GO:0032869 ! positively regulates cellular response to insulin stimulus + [Term] id: GO:1900115 name: extracellular regulation of signal transduction @@ -27554,6 +29256,46 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0008289 ! positively regulates lipid binding relationship: RO:0002213 GO:0008289 ! positively regulates lipid binding +[Term] +id: GO:1900247 +name: regulation of cytoplasmic translational elongation +def: "Any process that modulates the frequency, rate or extent of cytoplasmic translational elongation." [] +is_a: GO:0006448 ! regulation of translational elongation +is_a: GO:2000765 ! regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002182 ! regulates cytoplasmic translational elongation +relationship: RO:0002211 GO:0002182 ! regulates cytoplasmic translational elongation + +[Term] +id: GO:1900248 +name: negative regulation of cytoplasmic translational elongation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational elongation." [] +synonym: "down regulation of cytoplasmic translational elongation" EXACT [] +synonym: "down-regulation of cytoplasmic translational elongation" EXACT [] +synonym: "downregulation of cytoplasmic translational elongation" EXACT [] +synonym: "inhibition of cytoplasmic translational elongation" NARROW [] +is_a: GO:0045900 ! negative regulation of translational elongation +is_a: GO:1900247 ! regulation of cytoplasmic translational elongation +is_a: GO:2000766 ! negative regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002182 ! negatively regulates cytoplasmic translational elongation +relationship: RO:0002212 GO:0002182 ! negatively regulates cytoplasmic translational elongation + +[Term] +id: GO:1900249 +name: positive regulation of cytoplasmic translational elongation +def: "Any process that activates or increases the frequency, rate or extent of cytoplasmic translational elongation." [] +synonym: "activation of cytoplasmic translational elongation" NARROW [] +synonym: "up regulation of cytoplasmic translational elongation" EXACT [] +synonym: "up-regulation of cytoplasmic translational elongation" EXACT [] +synonym: "upregulation of cytoplasmic translational elongation" EXACT [] +is_a: GO:0045901 ! positive regulation of translational elongation +is_a: GO:1900247 ! regulation of cytoplasmic translational elongation +is_a: GO:2000767 ! positive regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002182 ! positively regulates cytoplasmic translational elongation +relationship: RO:0002213 GO:0002182 ! positively regulates cytoplasmic translational elongation + [Term] id: GO:1900371 name: regulation of purine nucleotide biosynthetic process @@ -27647,6 +29389,17 @@ is_a: GO:0022408 ! negative regulation of cell-cell adhesion intersection_of: GO:0000122 ! negative regulation of transcription by RNA polymerase II intersection_of: RO:0002212 GO:0098609 ! negatively regulates cell-cell adhesion +[Term] +id: GO:1900389 +name: regulation of glucose import by regulation of transcription from RNA polymerase II promoter +def: "A regulation of transcription from RNA polymerase II promoter that results in regulation of glucose import." [] +synonym: "regulation of glucose uptake by regulation of transcription from RNA polymerase II promoter" EXACT [] +is_a: GO:0006357 ! regulation of transcription by RNA polymerase II +is_a: GO:0046324 ! regulation of glucose import +intersection_of: GO:0050789 ! regulation of biological process +intersection_of: RO:0002211 GO:0100018 ! regulates regulation of glucose import by transcription from RNA polymerase II promoter +relationship: RO:0002211 GO:0100018 ! regulates regulation of glucose import by transcription from RNA polymerase II promoter + [Term] id: GO:1900392 name: regulation of transport by negative regulation of transcription from RNA polymerase II promoter @@ -28040,6 +29793,57 @@ intersection_of: GO:0010467 ! gene expression intersection_of: BFO:0000050 GO:0030198 ! part of extracellular matrix organization relationship: BFO:0000050 GO:0030198 ! part of extracellular matrix organization +[Term] +id: GO:1901190 +name: regulation of formation of translation initiation ternary complex +def: "Any process that modulates the frequency, rate or extent of formation of translation initiation ternary complex." [] +synonym: "regulation of translation initiation ternary complex assembly" EXACT [] +is_a: GO:0006446 ! regulation of translational initiation +is_a: GO:0043254 ! regulation of protein complex assembly +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0001677 ! regulates formation of translation initiation ternary complex +relationship: RO:0002211 GO:0001677 ! regulates formation of translation initiation ternary complex + +[Term] +id: GO:1901191 +name: negative regulation of formation of translation initiation ternary complex +def: "Any process that stops, prevents or reduces the frequency, rate or extent of formation of translation initiation ternary complex." [] +synonym: "down regulation of formation of translation initiation ternary complex" EXACT [] +synonym: "down regulation of translation initiation ternary complex assembly" EXACT [] +synonym: "down-regulation of formation of translation initiation ternary complex" EXACT [] +synonym: "down-regulation of translation initiation ternary complex assembly" EXACT [] +synonym: "downregulation of formation of translation initiation ternary complex" EXACT [] +synonym: "downregulation of translation initiation ternary complex assembly" EXACT [] +synonym: "inhibition of formation of translation initiation ternary complex" NARROW [] +synonym: "inhibition of translation initiation ternary complex assembly" EXACT [] +synonym: "negative regulation of translation initiation ternary complex assembly" EXACT [] +is_a: GO:0031333 ! negative regulation of protein complex assembly +is_a: GO:0045947 ! negative regulation of translational initiation +is_a: GO:1901190 ! regulation of formation of translation initiation ternary complex +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0001677 ! negatively regulates formation of translation initiation ternary complex +relationship: RO:0002212 GO:0001677 ! negatively regulates formation of translation initiation ternary complex + +[Term] +id: GO:1901192 +name: positive regulation of formation of translation initiation ternary complex +def: "Any process that activates or increases the frequency, rate or extent of formation of translation initiation ternary complex." [] +synonym: "activation of formation of translation initiation ternary complex" NARROW [] +synonym: "activation of translation initiation ternary complex assembly" EXACT [] +synonym: "positive regulation of translation initiation ternary complex assembly" EXACT [] +synonym: "up regulation of formation of translation initiation ternary complex" EXACT [] +synonym: "up regulation of translation initiation ternary complex assembly" EXACT [] +synonym: "up-regulation of formation of translation initiation ternary complex" EXACT [] +synonym: "up-regulation of translation initiation ternary complex assembly" EXACT [] +synonym: "upregulation of formation of translation initiation ternary complex" EXACT [] +synonym: "upregulation of translation initiation ternary complex assembly" EXACT [] +is_a: GO:0031334 ! positive regulation of protein complex assembly +is_a: GO:0045948 ! positive regulation of translational initiation +is_a: GO:1901190 ! regulation of formation of translation initiation ternary complex +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0001677 ! positively regulates formation of translation initiation ternary complex +relationship: RO:0002213 GO:0001677 ! positively regulates formation of translation initiation ternary complex + [Term] id: GO:1901213 name: regulation of transcription from RNA polymerase II promoter involved in heart development @@ -28582,6 +30386,21 @@ synonym: "organic hydroxy compound synthesis" EXACT [] is_a: GO:1901576 ! organic substance biosynthetic process is_a: GO:1901615 ! organic hydroxy compound metabolic process +[Term] +id: GO:1901652 +name: response to peptide +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus." [] +is_a: GO:0010243 ! response to organonitrogen compound +is_a: GO:1901700 ! response to oxygen-containing compound + +[Term] +id: GO:1901653 +name: cellular response to peptide +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus." [] +is_a: GO:0071417 ! cellular response to organonitrogen compound +is_a: GO:1901652 ! response to peptide +is_a: GO:1901701 ! cellular response to oxygen-containing compound + [Term] id: GO:1901661 name: quinone metabolic process @@ -28609,6 +30428,21 @@ is_a: GO:0009108 ! coenzyme biosynthetic process is_a: GO:0042181 ! ketone biosynthetic process is_a: GO:1901661 ! quinone metabolic process +[Term] +id: GO:1901698 +name: response to nitrogen compound +def: "Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus." [] +synonym: "response to nitrogen molecular entity" EXACT [] +is_a: GO:0042221 ! response to chemical + +[Term] +id: GO:1901699 +name: cellular response to nitrogen compound +def: "Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus." [] +synonym: "cellular response to nitrogen molecular entity" EXACT [] +is_a: GO:0070887 ! cellular response to chemical stimulus +is_a: GO:1901698 ! response to nitrogen compound + [Term] id: GO:1901700 name: response to oxygen-containing compound @@ -32109,6 +33943,43 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0004758 ! positively regulates serine C-palmitoyltransferase activity relationship: RO:0002213 GO:0004758 ! positively regulates serine C-palmitoyltransferase activity +[Term] +id: GO:1904226 +name: regulation of glycogen synthase activity, transferring glucose-1-phosphate +def: "Any process that modulates the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate." [] +is_a: GO:0051338 ! regulation of transferase activity +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0061547 ! regulates glycogen synthase activity, transferring glucose-1-phosphate +relationship: RO:0002211 GO:0061547 ! regulates glycogen synthase activity, transferring glucose-1-phosphate + +[Term] +id: GO:1904227 +name: negative regulation of glycogen synthase activity, transferring glucose-1-phosphate +def: "Any process that stops, prevents or reduces the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate." [] +synonym: "down regulation of glycogen synthase activity, transferring glucose-1-phosphate" EXACT [] +synonym: "down-regulation of glycogen synthase activity, transferring glucose-1-phosphate" EXACT [] +synonym: "downregulation of glycogen synthase activity, transferring glucose-1-phosphate" EXACT [] +synonym: "inhibition of glycogen synthase activity, transferring glucose-1-phosphate" NARROW [] +is_a: GO:0051348 ! negative regulation of transferase activity +is_a: GO:1904226 ! regulation of glycogen synthase activity, transferring glucose-1-phosphate +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0061547 ! negatively regulates glycogen synthase activity, transferring glucose-1-phosphate +relationship: RO:0002212 GO:0061547 ! negatively regulates glycogen synthase activity, transferring glucose-1-phosphate + +[Term] +id: GO:1904228 +name: positive regulation of glycogen synthase activity, transferring glucose-1-phosphate +def: "Any process that activates or increases the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate." [] +synonym: "activation of glycogen synthase activity, transferring glucose-1-phosphate" NARROW [] +synonym: "up regulation of glycogen synthase activity, transferring glucose-1-phosphate" EXACT [] +synonym: "up-regulation of glycogen synthase activity, transferring glucose-1-phosphate" EXACT [] +synonym: "upregulation of glycogen synthase activity, transferring glucose-1-phosphate" EXACT [] +is_a: GO:0051347 ! positive regulation of transferase activity +is_a: GO:1904226 ! regulation of glycogen synthase activity, transferring glucose-1-phosphate +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0061547 ! positively regulates glycogen synthase activity, transferring glucose-1-phosphate +relationship: RO:0002213 GO:0061547 ! positively regulates glycogen synthase activity, transferring glucose-1-phosphate + [Term] id: GO:1904251 name: regulation of bile acid metabolic process @@ -32438,6 +34309,46 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0048103 ! positively regulates somatic stem cell division relationship: RO:0002213 GO:0048103 ! positively regulates somatic stem cell division +[Term] +id: GO:1904688 +name: regulation of cytoplasmic translational initiation +def: "Any process that modulates the frequency, rate or extent of cytoplasmic translational initiation." [] +is_a: GO:0006446 ! regulation of translational initiation +is_a: GO:2000765 ! regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002183 ! regulates cytoplasmic translational initiation +relationship: RO:0002211 GO:0002183 ! regulates cytoplasmic translational initiation + +[Term] +id: GO:1904689 +name: negative regulation of cytoplasmic translational initiation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational initiation." [] +synonym: "down regulation of cytoplasmic translational initiation" EXACT [] +synonym: "down-regulation of cytoplasmic translational initiation" EXACT [] +synonym: "downregulation of cytoplasmic translational initiation" EXACT [] +synonym: "inhibition of cytoplasmic translational initiation" NARROW [] +is_a: GO:0045947 ! negative regulation of translational initiation +is_a: GO:1904688 ! regulation of cytoplasmic translational initiation +is_a: GO:2000766 ! negative regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002183 ! negatively regulates cytoplasmic translational initiation +relationship: RO:0002212 GO:0002183 ! negatively regulates cytoplasmic translational initiation + +[Term] +id: GO:1904690 +name: positive regulation of cytoplasmic translational initiation +def: "Any process that activates or increases the frequency, rate or extent of cytoplasmic translational initiation." [] +synonym: "activation of cytoplasmic translational initiation" NARROW [] +synonym: "up regulation of cytoplasmic translational initiation" EXACT [] +synonym: "up-regulation of cytoplasmic translational initiation" EXACT [] +synonym: "upregulation of cytoplasmic translational initiation" EXACT [] +is_a: GO:0045948 ! positive regulation of translational initiation +is_a: GO:1904688 ! regulation of cytoplasmic translational initiation +is_a: GO:2000767 ! positive regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002183 ! positively regulates cytoplasmic translational initiation +relationship: RO:0002213 GO:0002183 ! positively regulates cytoplasmic translational initiation + [Term] id: GO:1904729 name: regulation of intestinal lipid absorption @@ -33048,6 +34959,23 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0004972 ! positively regulates NMDA glutamate receptor activity relationship: RO:0002213 GO:0004972 ! positively regulates NMDA glutamate receptor activity +[Term] +id: GO:1904803 +name: regulation of translation involved in cellular response to UV +def: "Any regulation of translation that is involved in cellular response to UV." [] +synonym: "regulation of protein anabolism involved in cellular response to UV" EXACT [] +synonym: "regulation of protein biosynthesis involved in cellular response to UV" EXACT [] +synonym: "regulation of protein formation involved in cellular response to UV" EXACT [] +synonym: "regulation of protein synthesis involved in cellular response to UV" EXACT [] +synonym: "regulation of translation involved in cellular response to ultraviolet light stimulus" EXACT [] +synonym: "regulation of translation involved in cellular response to ultraviolet radiation stimulus" EXACT [] +synonym: "regulation of translation involved in cellular response to UV light stimulus" EXACT [] +synonym: "regulation of translation involved in cellular response to UV radiation stimulus" EXACT [] +is_a: GO:0006417 ! regulation of translation +intersection_of: GO:0006417 ! regulation of translation +intersection_of: BFO:0000050 GO:0034644 ! part of cellular response to UV +relationship: BFO:0000050 GO:0034644 ! part of cellular response to UV + [Term] id: GO:1904950 name: negative regulation of establishment of protein localization @@ -33139,6 +35067,57 @@ is_a: GO:0046942 ! carboxylic acid transport is_a: GO:0098656 ! anion transmembrane transport is_a: GO:1903825 ! organic acid transmembrane transport +[Term] +id: GO:1905082 +name: regulation of mitochondrial translational elongation +def: "Any process that modulates the frequency, rate or extent of mitochondrial translational elongation." [] +synonym: "regulation of mitochondrial translation elongation" EXACT [] +is_a: GO:0006448 ! regulation of translational elongation +is_a: GO:0070129 ! regulation of mitochondrial translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0070125 ! regulates mitochondrial translational elongation +relationship: RO:0002211 GO:0070125 ! regulates mitochondrial translational elongation + +[Term] +id: GO:1905083 +name: negative regulation of mitochondrial translational elongation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial translational elongation." [] +synonym: "down regulation of mitochondrial translation elongation" EXACT [] +synonym: "down regulation of mitochondrial translational elongation" EXACT [] +synonym: "down-regulation of mitochondrial translation elongation" EXACT [] +synonym: "down-regulation of mitochondrial translational elongation" EXACT [] +synonym: "downregulation of mitochondrial translation elongation" EXACT [] +synonym: "downregulation of mitochondrial translational elongation" EXACT [] +synonym: "inhibition of mitochondrial translation elongation" NARROW [] +synonym: "inhibition of mitochondrial translational elongation" NARROW [] +synonym: "negative regulation of mitochondrial translation elongation" EXACT [] +is_a: GO:0045900 ! negative regulation of translational elongation +is_a: GO:0070130 ! negative regulation of mitochondrial translation +is_a: GO:1905082 ! regulation of mitochondrial translational elongation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0070125 ! negatively regulates mitochondrial translational elongation +relationship: RO:0002212 GO:0070125 ! negatively regulates mitochondrial translational elongation + +[Term] +id: GO:1905084 +name: positive regulation of mitochondrial translational elongation +def: "Any process that activates or increases the frequency, rate or extent of mitochondrial translational elongation." [] +synonym: "activation of mitochondrial translation elongation" NARROW [] +synonym: "activation of mitochondrial translational elongation" NARROW [] +synonym: "positive regulation of mitochondrial translation elongation" EXACT [] +synonym: "up regulation of mitochondrial translation elongation" EXACT [] +synonym: "up regulation of mitochondrial translational elongation" EXACT [] +synonym: "up-regulation of mitochondrial translation elongation" EXACT [] +synonym: "up-regulation of mitochondrial translational elongation" EXACT [] +synonym: "upregulation of mitochondrial translation elongation" EXACT [] +synonym: "upregulation of mitochondrial translational elongation" EXACT [] +is_a: GO:0045901 ! positive regulation of translational elongation +is_a: GO:0070131 ! positive regulation of mitochondrial translation +is_a: GO:1905082 ! regulation of mitochondrial translational elongation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0070125 ! positively regulates mitochondrial translational elongation +relationship: RO:0002213 GO:0070125 ! positively regulates mitochondrial translational elongation + [Term] id: GO:1905114 name: cell surface receptor signaling pathway involved in cell-cell signaling @@ -33834,6 +35813,16 @@ def: "The process in which a solute is transported from one side of a membrane t is_a: GO:0006839 ! mitochondrial transport is_a: GO:0055085 ! transmembrane transport +[Term] +id: GO:1990580 +name: regulation of cytoplasmic translational termination +def: "Any process that modulates the frequency, rate or extent of cytoplasmic translational termination." [] +is_a: GO:0006449 ! regulation of translational termination +is_a: GO:2000765 ! regulation of cytoplasmic translation +intersection_of: GO:0050789 ! regulation of biological process +intersection_of: RO:0002211 GO:0002184 ! regulates cytoplasmic translational termination +relationship: RO:0002211 GO:0002184 ! regulates cytoplasmic translational termination + [Term] id: GO:1990731 name: UV-damage excision repair, DNA incision @@ -34487,6 +36476,35 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0048863 ! positively regulates stem cell differentiation relationship: RO:0002213 GO:0048863 ! positively regulates stem cell differentiation +[Term] +id: GO:2000765 +name: regulation of cytoplasmic translation +def: "Any process that modulates the frequency, rate or extent of cytoplasmic translation." [] +is_a: GO:0006417 ! regulation of translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0002181 ! regulates cytoplasmic translation +relationship: RO:0002211 GO:0002181 ! regulates cytoplasmic translation + +[Term] +id: GO:2000766 +name: negative regulation of cytoplasmic translation +def: "Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translation." [] +is_a: GO:0017148 ! negative regulation of translation +is_a: GO:2000765 ! regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0002181 ! negatively regulates cytoplasmic translation +relationship: RO:0002212 GO:0002181 ! negatively regulates cytoplasmic translation + +[Term] +id: GO:2000767 +name: positive regulation of cytoplasmic translation +def: "Any process that activates or increases the frequency, rate or extent of cytoplasmic translation." [] +is_a: GO:0045727 ! positive regulation of translation +is_a: GO:2000765 ! regulation of cytoplasmic translation +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0002181 ! positively regulates cytoplasmic translation +relationship: RO:0002213 GO:0002181 ! positively regulates cytoplasmic translation + [Term] id: GO:2000819 name: regulation of nucleotide-excision repair @@ -34673,6 +36691,35 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0035930 ! positively regulates corticosteroid hormone secretion relationship: RO:0002213 GO:0035930 ! positively regulates corticosteroid hormone secretion +[Term] +id: GO:2000849 +name: regulation of glucocorticoid secretion +def: "Any process that modulates the frequency, rate or extent of glucocorticoid secretion." [] +is_a: GO:2000846 ! regulation of corticosteroid hormone secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0035933 ! regulates glucocorticoid secretion +relationship: RO:0002211 GO:0035933 ! regulates glucocorticoid secretion + +[Term] +id: GO:2000850 +name: negative regulation of glucocorticoid secretion +def: "Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid secretion." [] +is_a: GO:2000847 ! negative regulation of corticosteroid hormone secretion +is_a: GO:2000849 ! regulation of glucocorticoid secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0035933 ! negatively regulates glucocorticoid secretion +relationship: RO:0002212 GO:0035933 ! negatively regulates glucocorticoid secretion + +[Term] +id: GO:2000851 +name: positive regulation of glucocorticoid secretion +def: "Any process that activates or increases the frequency, rate or extent of glucocorticoid secretion." [] +is_a: GO:2000848 ! positive regulation of corticosteroid hormone secretion +is_a: GO:2000849 ! regulation of glucocorticoid secretion +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0035933 ! positively regulates glucocorticoid secretion +relationship: RO:0002213 GO:0035933 ! positively regulates glucocorticoid secretion + [Term] id: GO:2000855 name: regulation of mineralocorticoid secretion @@ -35056,6 +37103,41 @@ intersection_of: GO:0008150 ! biological_process intersection_of: RO:0002213 GO:0005261 ! positively regulates cation channel activity relationship: RO:0002213 GO:0005261 ! positively regulates cation channel activity +[Term] +id: GO:2001273 +name: regulation of glucose import in response to insulin stimulus +def: "Any process that modulates the frequency, rate or extent of glucose import in response to insulin stimulus." [] +synonym: "regulation of cellular glucose import in response to insulin stimulus" EXACT [] +is_a: GO:0046324 ! regulation of glucose import +is_a: GO:1900076 ! regulation of cellular response to insulin stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002211 GO:0044381 ! regulates glucose import in response to insulin stimulus +relationship: RO:0002211 GO:0044381 ! regulates glucose import in response to insulin stimulus + +[Term] +id: GO:2001274 +name: negative regulation of glucose import in response to insulin stimulus +def: "Any process that stops, prevents or reduces the frequency, rate or extent of glucose import in response to insulin stimulus." [] +synonym: "negative regulation of cellular glucose import in response to insulin stimulus" EXACT [] +is_a: GO:0046325 ! negative regulation of glucose import +is_a: GO:1900077 ! negative regulation of cellular response to insulin stimulus +is_a: GO:2001273 ! regulation of glucose import in response to insulin stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002212 GO:0044381 ! negatively regulates glucose import in response to insulin stimulus +relationship: RO:0002212 GO:0044381 ! negatively regulates glucose import in response to insulin stimulus + +[Term] +id: GO:2001275 +name: positive regulation of glucose import in response to insulin stimulus +def: "Any process that activates or increases the frequency, rate or extent of glucose import in response to insulin stimulus." [] +synonym: "positive regulation of cellular glucose import in response to insulin stimulus" EXACT [] +is_a: GO:0046326 ! positive regulation of glucose import +is_a: GO:1900078 ! positive regulation of cellular response to insulin stimulus +is_a: GO:2001273 ! regulation of glucose import in response to insulin stimulus +intersection_of: GO:0008150 ! biological_process +intersection_of: RO:0002213 GO:0044381 ! positively regulates glucose import in response to insulin stimulus +relationship: RO:0002213 GO:0044381 ! positively regulates glucose import in response to insulin stimulus + [Typedef] id: BFO:0000050 name: part of diff --git a/src/ontology/imports/go_import.owl b/src/ontology/imports/go_import.owl index f14d6c41ce..a0166d97fe 100644 --- a/src/ontology/imports/go_import.owl +++ b/src/ontology/imports/go_import.owl @@ -277,6 +277,23 @@ + + + + + + + The chemical reactions and pathways resulting in the breakdown of amino acids containing sulfur, comprising cysteine, methionine and selenocysteine. + sulfur amino acid breakdown + sulfur amino acid catabolism + sulfur amino acid degradation + sulphur amino acid catabolic process + sulphur amino acid catabolism + sulfur amino acid catabolic process + + + + @@ -894,6 +911,35 @@ + + + + + + + + + + + Formation of a complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2 (either eIF2 in eukaryotes, or IF2 in prokaryotes). In prokaryotes, fMet-tRNA (initiator) is used rather than Met-tRNA (initiator). + translation initiation ternary complex assembly + formation of translation initiation ternary complex + + + + + + + + + + A cellular homeostatic process involved in the maintenance of an internal steady state of glucose within a cell or between a cell and its external environment. + cell glucose homeostasis + cellular glucose homeostasis + + + + @@ -1697,6 +1743,104 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of addition of phosphate groups into an amino acid in a protein. + regulation of protein amino acid phosphorylation + regulation of protein phosphorylation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the rate of addition of phosphate groups to amino acids within a protein. + down regulation of protein amino acid phosphorylation + down-regulation of protein amino acid phosphorylation + downregulation of protein amino acid phosphorylation + negative regulation of protein amino acid phosphorylation + inhibition of protein amino acid phosphorylation + negative regulation of protein phosphorylation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of addition of phosphate groups to amino acids within a protein. + positive regulation of protein amino acid phosphorylation + up regulation of protein amino acid phosphorylation + up-regulation of protein amino acid phosphorylation + upregulation of protein amino acid phosphorylation + activation of protein amino acid phosphorylation + stimulation of protein amino acid phosphorylation + positive regulation of protein phosphorylation + + + + @@ -1940,6 +2084,103 @@ + + + + + The chemical reactions and pathways resulting in the formation of a protein in the cytoplasm. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein. + cytoplasmic translation + + + + + + + + + + + + + + + + + + + + + + + + + + The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in the cytoplasm. + cytoplasmic translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + The process preceding formation of the peptide bond between the first two amino acids of a protein in the cytoplasm. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. + cytoplasmic translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The process resulting in the release of a polypeptide chain from the ribosome in the cytoplasm, usually in response to a termination codon. + cytoplasmic translational termination + + + + @@ -6961,6 +7202,22 @@ + + + + + Catalysis of the reaction: an 11-beta-hydroxysteroid + NAD(P)+ = an 11-oxosteroid + NAD(P)H + H(+). + beta-hydroxysteroid dehydrogenase + 11beta-hydroxy steroid dehydrogenase + 11beta-hydroxysteroid dehydrogenase + dehydrogenase, 11beta-hydroxy steroid + corticosteroid 11-reductase + corticosteroid 11beta-dehydrogenase + 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity + + + + @@ -7286,6 +7543,18 @@ + + + + + Catalysis of the reaction: D-glucopyranose 6-phosphate + H2O = D-glucose + phosphate. D-glucopyranose is also known as D-glucose 6-phosphate. + D-glucose-6-phosphate phosphohydrolase activity + glucose 6-phosphate phosphatase activity + glucose-6-phosphatase activity + + + + @@ -7750,6 +8019,104 @@ + + + + + + + + + + + + + Catalysis of the phosphorylation of an amino acid residue in a protein, usually according to the reaction: a protein + ATP = a phosphoprotein + ADP. + protamine kinase activity + protein kinase activity + + + + + + + + + Catalysis of the reactions: ATP + protein serine = ADP + protein serine phosphate, and ATP + protein threonine = ADP + protein threonine phosphate. + protein serine-threonine kinase activity + serine(threonine) protein kinase activity + serine/threonine protein kinase activity + protein kinase (phosphorylating) activity + protein phosphokinase activity + protein serine kinase activity + protein-serine kinase activity + serine kinase activity + serine protein kinase activity + serine-specific protein kinase activity + threonine-specific protein kinase activity + protein serine/threonine kinase activity + + + + + + + + + Catalysis of the reactions: ATP + a protein serine = ADP + protein serine phosphate; and ATP + a protein threonine = ADP + protein threonine phosphate. These reactions require the presence of calcium-bound calmodulin. + ATP:protein phosphotransferase (Ca2+/calmodulin-dependent) activity + Ca2+/CaM-dependent kinase activity + Ca2+/calmodulin-dependent protein kinase activity + CaM kinase activity + CaM-regulated serine/threonine kinase activity + calcium- and calmodulin-dependent protein kinase activity + calcium/calmodulin-dependent protein kinase activity + calmodulin regulated protein kinase activity + ATP:caldesmon O-phosphotransferase activity + Ca2+/calmodulin-dependent microtubule-associated protein 2 kinase activity + Ca2+/calmodulin-dependent protein kinase 1 activity + Ca2+/calmodulin-dependent protein kinase II activity + Ca2+/calmodulin-dependent protein kinase IV activity + Ca2+/calmodulin-dependent protein kinase kinase activity + Ca2+/calmodulin-dependent protein kinase kinase beta activity + CaM kinase II activity + calcium/calmodulin-dependent protein kinase type II activity + caldesmon kinase (phosphorylating) activity + calmodulin-dependent kinase II activity + calmodulin-dependent protein kinase I activity + CAM PKII + CaMKI + CaMKII + CaMKIV + CaMKKalpha + CaMKKbeta + STK20 + microtubule-associated protein 2 kinase activity + multifunctional calcium- and calmodulin-regulated protein kinase activity + multifunctional calcium/calmodulin regulated protein kinase activity + calmodulin-dependent protein kinase activity + + + + + + + + + Catalysis of the reaction: 4 ATP + 2 phosphorylase b = 4 ADP + phosphorylase a. + ATP:phosphorylase-b phosphotransferase activity + dephosphophosphorylase kinase activity + glycogen phosphorylase kinase activity + phosphorylase B kinase activity + phosphorylase kinase (phosphorylating) activity + phosphorylase kinase, intrinsic catalyst activity + PHK + STK17 + phosphorylase kinase activity + + + + @@ -9926,6 +10293,227 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome. + protein anabolism + protein biosynthesis + protein biosynthetic process + protein formation + protein synthesis + protein translation + translation + + + + + + + + + + + + + + + + + + + + + The process preceding formation of the peptide bond between the first two amino acids of a protein. This includes the formation of a complex of the ribosome, mRNA or circRNA, and an initiation complex that contains the first aminoacyl-tRNA. + biopolymerisation + biopolymerization + protein synthesis initiation + translation initiation + translational initiation + + + + + + + + + + + + + + + The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis. + protein synthesis elongation + translation elongation + translational elongation + + + + + + + + + + + + + + + The process resulting in the release of a polypeptide chain from the ribosome, usually in response to a termination codon (UAA, UAG, or UGA in the universal genetic code). + protein synthesis termination + translation termination + translational complex disassembly + translational termination + + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. + regulation of protein anabolism + regulation of protein biosynthesis + regulation of protein formation + regulation of protein synthesis + regulation of translation + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of translational initiation. + regulation of translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate, extent or accuracy of translational elongation. + regulation of translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of translational termination. + regulation of translational termination + + + + @@ -9940,6 +10528,51 @@ + + + + + + The process of introducing a phosphate group on to a protein. + protein amino acid phosphorylation + protein phosphorylation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of protein kinase activity. + down regulation of protein kinase activity + down-regulation of protein kinase activity + downregulation of protein kinase activity + inhibition of protein kinase activity + negative regulation of protein kinase activity + + + + @@ -10155,6 +10788,20 @@ + + + + + + The chemical reactions and pathways involving methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. + methionine and threonine metabolic process + methionine and threonine metabolism + methionine metabolism + methionine metabolic process + + + + @@ -11302,6 +11949,17 @@ + + + + + An endocytosis process in which cell surface receptors ensure specificity of transport. A specific receptor on the cell surface binds tightly to the extracellular macromolecule (the ligand) that it recognizes; the plasma-membrane region containing the receptor-ligand complex then undergoes endocytosis, forming a transport vesicle containing the receptor-ligand complex and excluding most other plasma-membrane proteins. Receptor-mediated endocytosis generally occurs via clathrin-coated pits and vesicles. + receptor mediated endocytosis + receptor-mediated endocytosis + + + + @@ -12267,6 +12925,24 @@ + + + + + + + + + + + + + The introduction of semen or sperm into the genital tract of a female. + insemination + + + + @@ -12844,6 +13520,22 @@ + + + + + + Catalysis of the reaction: S-adenosyl-L-methionine + a thiopurine = S-adenosyl-L-homocysteine + a thiopurine S-methylether. + 6-thiopurine transmethylase activity + S-adenosyl-L-methionine:thiopurine S-methyltransferase activity + mercaptopurine methyltransferase activity + thiopurine methyltransferase activity + TPMT + thiopurine S-methyltransferase activity + + + + @@ -12899,6 +13591,16 @@ + + + + + Catalysis of the transfer of a methyl group to the sulfur atom of an acceptor molecule. + S-methyltransferase activity + + + + @@ -13635,6 +14337,20 @@ + + + + + + The chemical reactions and pathways resulting in the breakdown of amino acids of the aspartate family, comprising asparagine, aspartate, lysine, methionine and threonine. + aspartate family amino acid breakdown + aspartate family amino acid catabolism + aspartate family amino acid degradation + aspartate family amino acid catabolic process + + + + @@ -13701,6 +14417,21 @@ + + + + + + + The chemical reactions and pathways resulting in the breakdown of methionine (2-amino-4-(methylthio)butanoic acid), a sulfur-containing, essential amino acid found in peptide linkage in proteins. + methionine breakdown + methionine catabolism + methionine degradation + methionine catabolic process + + + + @@ -14532,6 +15263,40 @@ + + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. + response to carbohydrate stimulus + response to carbohydrate + + + + + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. + response to hexose stimulus + response to hexose + + + + + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. + response to glucose stimulus + response to glucose + + + + @@ -15159,6 +15924,18 @@ + + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. + response to organic nitrogen + response to organonitrogen compound + + + + @@ -15823,6 +16600,16 @@ + + + + + Any process that modulates the frequency, rate or extent of gene expression after the production of an RNA transcript. + posttranscriptional regulation of gene expression + + + + @@ -16906,6 +17693,92 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. + regulation of phosphatase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. + positive regulation of phosphatase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate or frequency of phosphatase activity. Phosphatases catalyze the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. + negative regulation of phosphatase activity + + + + @@ -17233,6 +18106,89 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. + regulation of lipoprotein particle clearance + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. + negative regulation of lipoprotein particle clearance + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate, frequency, or extent of lipoprotein particle clearance. Lipoprotein particle clearance is the process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. + positive regulation of lipoprotein particle clearance + + + + @@ -17640,6 +18596,22 @@ + + + + + + + + + + + Enables the transfer of glucose-6-phosphate from one side of a membrane to the other. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. + glucose-6-phosphate transmembrane transporter activity + + + + @@ -17689,6 +18661,28 @@ + + + + + Enables the transfer of a solute from one side of a membrane to the other, up its concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction and is driven by a chemiosmotic source of energy, not direct ATP coupling. Secondary active transporters include symporters and antiporters. + active transporter + coupled carrier + electrochemical potential-driven transporter activity + porter activity + porters + secondary carrier-type facilitators + energizer of outer membrane receptor-mediated transport activity + heavy metal ion porter activity + ion-gradient-driven energizer activity + multidrug endosomal transmembrane transporter activity + nitrite/nitrate porter activity + galactose/glucose (methylgalactoside) porter activity + secondary active transmembrane transporter activity + + + + @@ -17701,6 +18695,22 @@ + + + + + + + + + + + Enables the transfer of thyroid hormones from one side of a membrane to the other. Thyroid hormone are any of the compounds secreted by the thyroid gland, largely thyroxine and triiodothyronine. + thyroid hormone transmembrane transporter activity + + + + @@ -17776,6 +18786,17 @@ + + + + + + The directed movement of hexose phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. + hexose phosphate transport + + + + @@ -17798,6 +18819,16 @@ + + + + + The directed movement of organophosphate esters into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Organophosphate esters are small organic molecules containing phosphate ester bonds. + organophosphate ester transport + + + + @@ -17818,6 +18849,16 @@ + + + + + The directed movement of glucose-6-phosphate into, out of or within a cell, or between cells, by means of some agent such as a transporter or pore. Glucose-6-phosphate is a monophosphorylated derivative of glucose with the phosphate group attached to C-6. + glucose-6-phosphate transport + + + + @@ -18455,6 +19496,16 @@ + + + + + The process of removing one or more phosphoric (ester or anhydride) residues from a molecule. + dephosphorylation + + + + @@ -18972,6 +20023,34 @@ + + + + + + + + + + + Catalysis of the hydrolysis of phosphoric monoesters, releasing inorganic phosphate. + phosphoric monoester hydrolase activity + 4-nitrophenylphosphatase activity + 4-nitrophenylphosphate phosphohydrolase activity + K-pNPPase activity + NPPase activity + PNPPase activity + ecto-p-nitrophenyl phosphatase activity + nitrophenyl phosphatase activity + p-nitrophenylphosphatase activity + p-nitrophenylphosphate phosphohydrolase activity + para-nitrophenyl phosphatase activity + phosphatase + phosphatase activity + + + + @@ -19102,6 +20181,27 @@ + + + + + Catalysis of the release of ammonia or one of its derivatives, with the formation of a double bond or ring. Enzymes with this activity may catalyze the actual elimination of the ammonia, amine or amide, e.g. CH-CH(-NH-R) = C=CH- + NH2-R. Others, however, catalyze elimination of another component, e.g. water, which is followed by spontaneous reactions that lead to breakage of the C-N bond, e.g. L-serine ammonia-lyase (EC:4.3.1.17), so that the overall reaction is C(-OH)-CH(-NH2) = CH2-CO- + NH3, i.e. an elimination with rearrangement. The sub-subclasses of EC:4.3 are the ammonia-lyases (EC:4.3.1), lyases acting on amides, amidines, etc. (EC:4.3.2), the amine-lyases (EC:4.3.3), and other carbon-nitrogen lyases (EC:4.3.99). + other carbon-nitrogen lyase activity + carbon-nitrogen lyase activity + + + + + + + + + Catalysis of the release of amides or amidines by the cleavage of a carbon-nitrogen bond or the reverse reaction with an amide or amidine as a substrate. + amidine-lyase activity + + + + @@ -19282,6 +20382,48 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. + down regulation of protein biosynthetic process + down-regulation of protein biosynthetic process + downregulation of protein biosynthetic process + negative regulation of protein anabolism + negative regulation of protein biosynthesis + negative regulation of protein biosynthetic process + negative regulation of protein formation + negative regulation of protein synthesis + inhibition of protein biosynthetic process + protein biosynthesis inhibitor activity + protein biosynthetic process inhibitor activity + negative regulation of translation + + + + @@ -19433,6 +20575,16 @@ + + + + + Catalysis of the reaction: carbohydrate phosphate + H2O = carbohydrate + phosphate. + carbohydrate phosphatase activity + + + + @@ -20498,6 +21650,38 @@ + + + + + A cellular process that results in the biosynthesis of constituent macromolecules, assembly, and arrangement of constituent parts of a complex containing RNA and proteins. Includes the biosynthesis of the constituent RNA and protein molecules, and those macromolecular modifications that are involved in synthesis or assembly of the ribonucleoprotein complex. + RNA-protein complex biogenesis + ribonucleoprotein complex biogenesis and assembly + ribonucleoprotein complex biogenesis + + + + + + + + + + + + + + + + The aggregation, arrangement and bonding together of proteins and RNA molecules to form a ribonucleoprotein complex. + RNA-protein complex assembly + RNP complex assembly + protein-RNA complex assembly + ribonucleoprotein complex assembly + + + + @@ -20535,6 +21719,20 @@ + + + + + Enables the transfer of a specific substance or related group of substances from one side of a membrane to the other, up the solute's concentration gradient. The transporter binds the solute and undergoes a series of conformational changes. Transport works equally well in either direction. + active carrier activity + carrier activity + permease activity + pump activity + active transmembrane transporter activity + + + + @@ -23110,6 +24308,72 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex assembly. + down regulation of protein complex assembly + down-regulation of protein complex assembly + downregulation of protein complex assembly + inhibition of protein complex assembly + negative regulation of protein complex assembly + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of protein complex assembly. + up regulation of protein complex assembly + up-regulation of protein complex assembly + upregulation of protein complex assembly + activation of protein complex assembly + stimulation of protein complex assembly + positive regulation of protein complex assembly + + + + @@ -24599,6 +25863,60 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of carbohydrate phosphatase activity, the catalysis of the hydrolysis of phosphate from a carbohydrate phosphate. + regulation of carbohydrate phosphatase activity + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of glucose-6-phosphatase activity, the catalysis of the reaction: D-glucose 6-phosphate + H2O = D-glucose + phosphate. + regulation of glucose-6-phosphatase activity + + + + @@ -24739,6 +26057,115 @@ + + + + + The regulated release of a gonadotropin, any hormone that stimulates the gonads, especially follicle-stimulating hormone and luteinizing hormone. + gonadotrophin secretion + gonadotropin secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the regulated release of a gonadotropin. + regulation of gonadotrophin secretion + regulation of gonadotropin secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of a gonadotropin. + down regulation of gonadotropin secretion + down-regulation of gonadotropin secretion + downregulation of gonadotropin secretion + negative regulation of gonadotrophin secretion + inhibition of gonadotropin secretion + negative regulation of gonadotropin secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the regulated release of a gonadotropin. + positive regulation of gonadotrophin secretion + up regulation of gonadotropin secretion + up-regulation of gonadotropin secretion + upregulation of gonadotropin secretion + activation of gonadotropin secretion + stimulation of gonadotropin secretion + positive regulation of gonadotropin secretion + + + + @@ -25314,6 +26741,42 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + The chemical reactions and pathways resulting in the formation of a protein in a mitochondrion. This is a ribosome-mediated process in which the information in messenger RNA (mRNA) is used to specify the sequence of amino acids in the protein; the mitochondrion has its own ribosomes and transfer RNAs, and uses a genetic code that differs from the nuclear code. + mitochondrial protein anabolism + mitochondrial protein biosynthesis + mitochondrial protein formation + mitochondrial protein synthesis + mitochondrial protein translation + mitochondrial translation + + + + @@ -25613,6 +27076,28 @@ + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. + response to insulin stimulus + response to insulin + + + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an insulin stimulus. Insulin is a polypeptide hormone produced by the islets of Langerhans of the pancreas in mammals, and by the homologous organs of other organisms. + cellular response to insulin stimulus + + + + @@ -25853,6 +27338,31 @@ + + + + + + The disaggregation of a protein-containing macromolecular complex into its constituent components. + protein complex disassembly + cellular macromolecule complex disassembly + macromolecule complex disassembly + protein-containing complex disassembly + + + + + + + + + + The disaggregation of a protein-lipid complex into its constituent components. + protein-lipid complex disassembly + + + + @@ -26886,6 +28396,16 @@ + + + + + A homeostatic process involved in the maintenance of an internal steady state of a carbohydrate within an organism or cell. + carbohydrate homeostasis + + + + @@ -27472,6 +28992,17 @@ + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. + response to monosaccharide stimulus + response to monosaccharide + + + + @@ -27484,6 +29015,35 @@ + + + + + + + + + + + + + + + + + + + + + + + The process in which a lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. + lipoprotein particle clearance + plasma lipoprotein particle clearance + + + + @@ -27540,6 +29100,18 @@ + + + + + The aggregation, arrangement and bonding together of a set of components to form a protein complex, occurring at the level of an individual cell. + cellular protein complex assembly + cellular macromolecule complex assembly + cellular protein-containing complex assembly + + + + @@ -28329,6 +29901,98 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of removal of phosphate groups from a molecule. + regulation of dephosphorylation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process the stops, prevents, or reduces the frequency, rate or extent of removal of phosphate groups from a molecule. + down regulation of dephosphorylation + down-regulation of dephosphorylation + downregulation of dephosphorylation + inhibition of dephosphorylation + negative regulation of dephosphorylation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of removal of phosphate groups from a molecule. + up regulation of dephosphorylation + up-regulation of dephosphorylation + upregulation of dephosphorylation + activation of dephosphorylation + stimulation of dephosphorylation + positive regulation of dephosphorylation + + + + @@ -28456,6 +30120,65 @@ + + + + + + + + + + + + + + + + + + + + + + + The regulated release of proinsulin from secretory granules (B granules) in the B cells of the pancreas; accompanied by cleavage of proinsulin to form mature insulin, in response to a glucose stimulus. + insulin secretion involved in cellular response to glucose + insulin secretion involved in cellular response to glucose stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. + positive regulation of insulin secretion in response to glucose + positive regulation of insulin secretion involved in cellular response to glucose stimulus + + + + @@ -28512,6 +30235,16 @@ + + + + + The regulated release of any glucocorticoid hormone into the circulatory system. Glucocorticoids are a class of steroid hormones that regulate a variety of physiological processes, in particular control of the concentration of glucose in blood. + glucocorticoid secretion + + + + @@ -28730,6 +30463,38 @@ + + + + + + + + + + + + + + + + + + + + + + Combining selectively with an extracellular substance and delivering the substance into the cell via endocytosis. + receptor activity + transport receptor activity + endocytic receptor activity + receptor activity involved in ligand uptake + receptor activity involved in receptor-mediated endocytosis + cargo receptor activity + + + + @@ -29966,6 +31731,16 @@ + + + + + Catalysis of the reaction: RPO-R' + H2O = RPOOH + R'H. This reaction is the hydrolysis of any phosphoric ester bond, any ester formed from orthophosphoric acid, O=P(OH)3. + phosphoric ester hydrolase activity + + + + @@ -30031,6 +31806,16 @@ + + + + + Any process involved in the maintenance of an internal steady state of glucose within an organism or cell. + glucose homeostasis + + + + @@ -30109,6 +31894,22 @@ + + + + + + + + + + + The expulsion of seminal fluid, thick white fluid containing spermatozoa, from the male genital tract. + sperm ejaculation + + + + @@ -31001,6 +32802,39 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process in which proteins and protein complexes involved in translation are transported to, or maintained in, a specific location. + establishment and maintenance of translational machinery localization + establishment and maintenance of translational protein localization + regulation of translation by machinery localisation + translational machinery localization + translational protein localization + regulation of translation by machinery localization + + + + @@ -31225,6 +33059,126 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. + down regulation of protein complex disassembly + down-regulation of protein complex disassembly + downregulation of protein complex disassembly + inhibition of protein complex disassembly + negative regulation of protein complex disassembly + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. + up regulation of protein complex disassembly + up-regulation of protein complex disassembly + upregulation of protein complex disassembly + activation of protein complex disassembly + stimulation of protein complex disassembly + positive regulation of protein complex disassembly + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of protein complex disassembly, the disaggregation of a protein complex into its constituent components. + regulation of protein complex disassembly + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of protein complex assembly. + regulation of protein complex assembly + + + + @@ -31489,6 +33443,19 @@ + + + + + + + The regulated release of cortisol, a steroid hormone that in humans is the major circulating hormone of the cortex, or outer layer, of the adrenal gland. + hydrocortisone secretion + cortisol secretion + + + + @@ -31562,6 +33529,19 @@ + + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. + response to peptide hormone stimulus + response to polypeptide hormone stimulus + response to peptide hormone + + + + @@ -31809,6 +33789,16 @@ + + + + + The disaggregation of a protein complex into its constituent components, occurring at the level of an individual cell. Protein complexes may have other associated non-protein prosthetic groups, such as nucleic acids, metal ions or carbohydrate groups. + cellular protein complex disassembly + + + + @@ -31948,6 +33938,24 @@ + + + + + Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein complex. + protein complex subunit organisation + protein complex subunit organization + cellular macromolecular complex organization + cellular macromolecular complex subunit organisation + cellular macromolecular complex subunit organization + macromolecular complex organization + macromolecular complex subunit organisation + macromolecular complex subunit organization + protein-containing complex subunit organization + + + + @@ -32443,6 +34451,22 @@ + + + + + + The chemical reactions and pathways resulting in the breakdown of compounds that contain sulfur, such as the amino acids methionine and cysteine or the tripeptide glutathione. + sulfur compound breakdown + sulfur compound catabolism + sulfur compound degradation + sulfur catabolic process + sulfur catabolism + sulfur compound catabolic process + + + + @@ -32478,6 +34502,23 @@ + + + + + + + + + + + The directed movement of the hexose monosaccharide glucose into a cell as a result of an insulin stimulus. + cellular glucose import in response to insulin stimulus + glucose import in response to insulin stimulus + + + + @@ -33537,6 +35578,34 @@ + + + + + + + + + + + + + + + + + + + + + + Any molecular function involved in the initiation, activation, perpetuation, repression or termination of polypeptide synthesis at the ribosome. + translation factor activity + translation regulator activity + + + + @@ -35932,6 +38001,48 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA or circRNA. + positive regulation of protein anabolism + positive regulation of protein biosynthesis + positive regulation of protein biosynthetic process + positive regulation of protein formation + positive regulation of protein synthesis + up regulation of protein biosynthetic process + up-regulation of protein biosynthetic process + upregulation of protein biosynthetic process + activation of protein biosynthetic process + stimulation of protein biosynthetic process + positive regulation of translation + + + + @@ -37000,6 +39111,67 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of protein kinase activity. + regulation of protein kinase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of protein kinase activity. + up regulation of protein kinase activity + up-regulation of protein kinase activity + upregulation of protein kinase activity + stimulation of protein kinase activity + positive regulation of protein kinase activity + + + + @@ -37221,6 +39393,138 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of translational elongation. + down regulation of translational elongation + down-regulation of translational elongation + downregulation of translational elongation + inhibition of translational elongation + negative regulation of translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of translational elongation. + up regulation of translational elongation + up-regulation of translational elongation + upregulation of translational elongation + activation of translational elongation + stimulation of translational elongation + positive regulation of translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of translational termination. + down regulation of translational termination + down-regulation of translational termination + downregulation of translational termination + inhibition of translational termination + negative regulation of translational termination + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of translational termination. + up regulation of translational termination + up-regulation of translational termination + upregulation of translational termination + activation of translational termination + stimulation of translational termination + positive regulation of translational termination + + + + @@ -37981,6 +40285,71 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of translational initiation. + down regulation of translational initiation + down-regulation of translational initiation + downregulation of translational initiation + inhibition of translational initiation + negative regulation of translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of translational initiation. + up regulation of translational initiation + up-regulation of translational initiation + upregulation of translational initiation + activation of translational initiation + stimulation of translational initiation + positive regulation of translational initiation + + + + @@ -38558,6 +40927,112 @@ + + + + + The directed movement of the hexose monosaccharide glucose into a cell or organelle. + glucose uptake + glucose import + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. + regulation of glucose uptake + regulation of glucose import + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. + down regulation of glucose import + down-regulation of glucose import + downregulation of glucose import + negative regulation of glucose uptake + inhibition of glucose import + negative regulation of glucose import + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the import of the hexose monosaccharide glucose into a cell or organelle. + positive regulation of glucose uptake + up regulation of glucose import + up-regulation of glucose import + upregulation of glucose import + activation of glucose import + stimulation of glucose import + positive regulation of glucose import + + + + @@ -39662,6 +42137,101 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. + regulation of receptor mediated endocytosis + regulation of receptor-mediated endocytosis + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. + positive regulation of receptor mediated endocytosis + up regulation of receptor mediated endocytosis + up-regulation of receptor mediated endocytosis + upregulation of receptor mediated endocytosis + activation of receptor mediated endocytosis + stimulation of receptor mediated endocytosis + positive regulation of receptor-mediated endocytosis + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of receptor mediated endocytosis, the uptake of external materials by cells, utilizing receptors to ensure specificity of transport. + down regulation of receptor mediated endocytosis + down-regulation of receptor mediated endocytosis + downregulation of receptor mediated endocytosis + negative regulation of receptor mediated endocytosis + inhibition of receptor mediated endocytosis + negative regulation of receptor-mediated endocytosis + + + + @@ -40568,6 +43138,30 @@ + + + + + Catalysis of the reaction: sugar phosphate + H2O = sugar + phosphate. + sugar-phosphate phosphatase activity + sugar-phosphate phosphohydrolase activity + sugar-phosphatase activity + + + + + + + + + Catalysis of the reaction: H2O + sugar phosphorylated on the terminal carbon = a sugar + phosphate. + sugar-omega-phosphate phosphohydrolase activity + xylitol-5-phosphatase activity + sugar-terminal-phosphatase activity + + + + @@ -45673,6 +48267,101 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the regulated release of cortisol from a cell. + regulation of cortisol secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the regulated release of cortisol from a cell. + down regulation of cortisol secretion + down-regulation of cortisol secretion + downregulation of cortisol secretion + inhibition of cortisol secretion + negative regulation of cortisol secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the regulated release of cortisol from a cell. + up regulation of cortisol secretion + up-regulation of cortisol secretion + upregulation of cortisol secretion + activation of cortisol secretion + stimulation of cortisol secretion + positive regulation of cortisol secretion + + + + @@ -49289,6 +51978,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. + regulation of insulin secretion in response to glucose + regulation of insulin secretion involved in cellular response to glucose stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the frequency, rate or extent of the regulated release of insulin that contributes to the response of a cell to glucose. + negative regulation of insulin secretion involved in cellular response to glucose + negative regulation of insulin secretion in response to glucose + negative regulation of insulin secretion involved in cellular response to glucose stimulus + + + + @@ -49411,6 +52161,16 @@ + + + + + Catalysis of the reaction: UDP-glucose + (1,4)-alpha-D-glucosyl(n) = UMP + (1,4)-alpha-D-glucosyl(n)-glucose-1-phosphate. + glycogen synthase activity, transferring glucose-1-phosphate + + + + @@ -49564,6 +52324,22 @@ + + + + + + The aggregation, arrangement and bonding together of a set of macromolecules to form a protein-containing complex. + chaperone activity + macromolecular complex assembly + macromolecule complex assembly + protein complex assembly + protein complex formation + protein-containing complex assembly + + + + @@ -49786,6 +52562,274 @@ + + + + + + + + + + + + + + + + + + + + + + The process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. This includes the formation of a complex of the ribosome, mRNA, and an initiation complex that contains the first aminoacyl-tRNA. + mitochondrial translation initiation + mitochondrial translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + The successive addition of amino acid residues to a nascent polypeptide chain during protein biosynthesis in a mitochondrion. + mitochondrial translation elongation + mitochondrial translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + The process resulting in the release of a polypeptide chain from the ribosome in a mitochondrion, usually in response to a termination codon (note that mitochondria use variants of the universal genetic code that differ between different taxa). + mitochondrial translation termination + mitochondrial translational termination + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. + regulation of mitochondrial protein anabolism + regulation of mitochondrial protein biosynthesis + regulation of mitochondrial protein formation + regulation of mitochondrial protein synthesis + regulation of mitochondrial translation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. + negative regulation of mitochondrial protein anabolism + negative regulation of mitochondrial protein biosynthesis + negative regulation of mitochondrial protein formation + negative regulation of mitochondrial protein synthesis + negative regulation of mitochondrial translation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the chemical reactions and pathways resulting in the formation of proteins by the translation of mRNA in a mitochondrion. + positive regulation of mitochondrial protein anabolism + positive regulation of mitochondrial protein biosynthesis + positive regulation of mitochondrial protein formation + positive regulation of mitochondrial protein synthesis + positive regulation of mitochondrial translation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. + regulation of mitochondrial translation initiation + regulation of mitochondrial translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents, or reduces the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. + negative regulation of mitochondrial translation initiation + negative regulation of mitochondrial translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of the process preceding formation of the peptide bond between the first two amino acids of a protein in a mitochondrion. + positive regulation of mitochondrial translation initiation + positive regulation of mitochondrial translational initiation + + + + @@ -50233,6 +53277,19 @@ + + + + + Catalysis of the reaction: (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate = fumarate + 5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamide. + adenylosuccinase activity + adenylosuccinate lyase activity + succino AMP-lyase activity + (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity + + + + @@ -50713,6 +53770,52 @@ + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a carbohydrate stimulus. + cellular response to carbohydrate stimulus + + + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a monosaccharide stimulus. + cellular response to monosaccharide stimulus + + + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a hexose stimulus. + cellular response to hexose stimulus + + + + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a glucose stimulus. + cellular response to glucose stimulus + + + + @@ -50724,6 +53827,19 @@ + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide hormone stimulus. A peptide hormone is any of a class of peptides that are secreted into the blood stream and have endocrine functions in living animals. + cellular response to polypeptide hormone stimulus + cellular response to peptide hormone stimulus + + + + @@ -50760,6 +53876,20 @@ + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of an organonitrogen stimulus. An organonitrogen compound is formally a compound containing at least one carbon-nitrogen bond. + cellular response to organic nitrogen + cellular response to organonitrogen compound + + + + @@ -51038,6 +54168,70 @@ + + + + + Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a protein-lipid complex. + protein-lipid complex subunit organisation + protein-lipid complex subunit organization + + + + + + + + + Any process in which macromolecules aggregate, disaggregate, or are modified, resulting in the formation, disassembly, or alteration of a ribonucleoprotein complex. + RNA-protein complex subunit organization + protein-RNA complex subunit organization + ribonucleoprotein complex subunit organisation + ribonucleoprotein complex subunit organization + + + + + + + + + + + A protein-lipid complex subunit organization process that results in the formation, disassembly, or alteration of a plasma lipoprotein particle. A plasma lipoprotein particle is a spherical particle with a hydrophobic core of triglycerides and/or cholesterol esters, surrounded by an amphipathic monolayer of phospholipids, cholesterol and apolipoproteins. + plasma lipoprotein particle organisation + plasma lipoprotein particle organization + + + + + + + + + + + + + + + + The disaggregation of a plasma lipoprotein particle into its constituent components. + plasma lipoprotein particle disassembly + + + + + + + + + The process in which a triglyceride-rich lipoprotein particle is removed from the blood via receptor-mediated endocytosis and its constituent parts degraded. + triglyceride-rich lipoprotein particle clearance + + + + @@ -51051,6 +54245,89 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the rate, frequency, or extent of protein serine/threonine kinase activity. + regulation of protein serine/threonine kinase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that decreases the rate, frequency, or extent of protein serine/threonine kinase activity. + negative regulation of protein serine/threonine kinase activity + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that increases the rate, frequency, or extent of protein serine/threonine kinase activity. + positive regulation of protein serine/threonine kinase activity + + + + @@ -52704,6 +55981,17 @@ + + + + + Any process involved in the maintenance of internal levels of plasma lipoprotein particles within an organism. + plasma lipoprotein particle homeostasis + regulation of plasma lipoprotein particle levels + + + + @@ -53881,6 +57169,34 @@ + + + + + + + + + + + + + + + + + + + + + + Any signal transduction pathway involving calmodulin dependent kinase activity. + CAMK signaling pathway + calmodulin dependent kinase signaling pathway + + + + @@ -54298,6 +57614,38 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates synaptic transmission by regulating translation occurring at the synapse. + regulation of translation at synapse, modulating synaptic transmission + + + + @@ -54380,6 +57728,58 @@ + + + + + + + + + + + + + + + + + + + + + Any process that modulates synaptic transmission by regulating translation occurring at the presynapse. + regulation of translation at presynapse, modulating synaptic transmission + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates synaptic transmission by regulating translation occurring at the postsynapse. + regulation of translation at postsynapse, modulating synaptic transmission + + + + @@ -54462,6 +57862,28 @@ + + + + + + + + + + + + + + + + + Any protein phosphorylation process that negatively_regulates protein kinase activity + negative regulation of protein kinase activity by protein phosphorylation + + + + @@ -54484,6 +57906,28 @@ + + + + + + + + + + + + + + + + + Any transcription from RNA polymerase II promoter process that regulates glucose import + regulation of glucose import by transcription from RNA polymerase II promoter + + + + @@ -55573,6 +59017,100 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cellular response to insulin stimulus. + regulation of cellular response to insulin stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of cellular response to insulin stimulus. + down regulation of cellular response to insulin stimulus + down-regulation of cellular response to insulin stimulus + downregulation of cellular response to insulin stimulus + inhibition of cellular response to insulin stimulus + negative regulation of cellular response to insulin stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cellular response to insulin stimulus. + up regulation of cellular response to insulin stimulus + up-regulation of cellular response to insulin stimulus + upregulation of cellular response to insulin stimulus + activation of cellular response to insulin stimulus + positive regulation of cellular response to insulin stimulus + + + + @@ -55906,6 +59444,100 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cytoplasmic translational elongation. + regulation of cytoplasmic translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational elongation. + down regulation of cytoplasmic translational elongation + down-regulation of cytoplasmic translational elongation + downregulation of cytoplasmic translational elongation + inhibition of cytoplasmic translational elongation + negative regulation of cytoplasmic translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cytoplasmic translational elongation. + up regulation of cytoplasmic translational elongation + up-regulation of cytoplasmic translational elongation + upregulation of cytoplasmic translational elongation + activation of cytoplasmic translational elongation + positive regulation of cytoplasmic translational elongation + + + + @@ -56066,6 +59698,35 @@ + + + + + + + + + + + + + + + + + + + + + + + A regulation of transcription from RNA polymerase II promoter that results in regulation of glucose import. + regulation of glucose uptake by regulation of transcription from RNA polymerase II promoter + regulation of glucose import by regulation of transcription from RNA polymerase II promoter + + + + @@ -56807,6 +60468,111 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of formation of translation initiation ternary complex. + regulation of translation initiation ternary complex assembly + regulation of formation of translation initiation ternary complex + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of formation of translation initiation ternary complex. + down regulation of formation of translation initiation ternary complex + down regulation of translation initiation ternary complex assembly + down-regulation of formation of translation initiation ternary complex + down-regulation of translation initiation ternary complex assembly + downregulation of formation of translation initiation ternary complex + downregulation of translation initiation ternary complex assembly + inhibition of translation initiation ternary complex assembly + negative regulation of translation initiation ternary complex assembly + inhibition of formation of translation initiation ternary complex + negative regulation of formation of translation initiation ternary complex + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of formation of translation initiation ternary complex. + activation of translation initiation ternary complex assembly + positive regulation of translation initiation ternary complex assembly + up regulation of formation of translation initiation ternary complex + up regulation of translation initiation ternary complex assembly + up-regulation of formation of translation initiation ternary complex + up-regulation of translation initiation ternary complex assembly + upregulation of formation of translation initiation ternary complex + upregulation of translation initiation ternary complex assembly + activation of formation of translation initiation ternary complex + positive regulation of formation of translation initiation ternary complex + + + + @@ -57684,6 +61450,29 @@ + + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. + response to peptide + + + + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a peptide stimulus. + cellular response to peptide + + + + @@ -57719,6 +61508,29 @@ + + + + + Any process that results in a change in state or activity of a cell or an organism (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. + response to nitrogen molecular entity + response to nitrogen compound + + + + + + + + + + Any process that results in a change in state or activity of a cell (in terms of movement, secretion, enzyme production, gene expression, etc.) as a result of a nitrogen compound stimulus. + cellular response to nitrogen molecular entity + cellular response to nitrogen compound + + + + @@ -64436,6 +68248,97 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. + regulation of glycogen synthase activity, transferring glucose-1-phosphate + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. + down regulation of glycogen synthase activity, transferring glucose-1-phosphate + down-regulation of glycogen synthase activity, transferring glucose-1-phosphate + downregulation of glycogen synthase activity, transferring glucose-1-phosphate + inhibition of glycogen synthase activity, transferring glucose-1-phosphate + negative regulation of glycogen synthase activity, transferring glucose-1-phosphate + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of glycogen synthase activity, transferring glucose-1-phosphate. + up regulation of glycogen synthase activity, transferring glucose-1-phosphate + up-regulation of glycogen synthase activity, transferring glucose-1-phosphate + upregulation of glycogen synthase activity, transferring glucose-1-phosphate + activation of glycogen synthase activity, transferring glucose-1-phosphate + positive regulation of glycogen synthase activity, transferring glucose-1-phosphate + + + + @@ -65124,6 +69027,100 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cytoplasmic translational initiation. + regulation of cytoplasmic translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translational initiation. + down regulation of cytoplasmic translational initiation + down-regulation of cytoplasmic translational initiation + downregulation of cytoplasmic translational initiation + inhibition of cytoplasmic translational initiation + negative regulation of cytoplasmic translational initiation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cytoplasmic translational initiation. + up regulation of cytoplasmic translational initiation + up-regulation of cytoplasmic translational initiation + upregulation of cytoplasmic translational initiation + activation of cytoplasmic translational initiation + positive regulation of cytoplasmic translational initiation + + + + @@ -65914,6 +69911,41 @@ + + + + + + + + + + + + + + + + + + + + + + Any regulation of translation that is involved in cellular response to UV. + regulation of protein anabolism involved in cellular response to UV + regulation of protein biosynthesis involved in cellular response to UV + regulation of protein formation involved in cellular response to UV + regulation of protein synthesis involved in cellular response to UV + regulation of translation involved in cellular response to UV light stimulus + regulation of translation involved in cellular response to UV radiation stimulus + regulation of translation involved in cellular response to ultraviolet light stimulus + regulation of translation involved in cellular response to ultraviolet radiation stimulus + regulation of translation involved in cellular response to UV + + + + @@ -66081,6 +70113,111 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of mitochondrial translational elongation. + regulation of mitochondrial translation elongation + regulation of mitochondrial translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of mitochondrial translational elongation. + down regulation of mitochondrial translation elongation + down regulation of mitochondrial translational elongation + down-regulation of mitochondrial translation elongation + down-regulation of mitochondrial translational elongation + downregulation of mitochondrial translation elongation + downregulation of mitochondrial translational elongation + negative regulation of mitochondrial translation elongation + inhibition of mitochondrial translation elongation + inhibition of mitochondrial translational elongation + negative regulation of mitochondrial translational elongation + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of mitochondrial translational elongation. + positive regulation of mitochondrial translation elongation + up regulation of mitochondrial translation elongation + up regulation of mitochondrial translational elongation + up-regulation of mitochondrial translation elongation + up-regulation of mitochondrial translational elongation + upregulation of mitochondrial translation elongation + upregulation of mitochondrial translational elongation + activation of mitochondrial translation elongation + activation of mitochondrial translational elongation + positive regulation of mitochondrial translational elongation + + + + @@ -67404,6 +71541,34 @@ + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cytoplasmic translational termination. + regulation of cytoplasmic translational termination + + + + @@ -68997,6 +73162,89 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of cytoplasmic translation. + regulation of cytoplasmic translation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of cytoplasmic translation. + negative regulation of cytoplasmic translation + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of cytoplasmic translation. + positive regulation of cytoplasmic translation + + + + @@ -69471,6 +73719,89 @@ + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of glucocorticoid secretion. + regulation of glucocorticoid secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of glucocorticoid secretion. + negative regulation of glucocorticoid secretion + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of glucocorticoid secretion. + positive regulation of glucocorticoid secretion + + + + @@ -70427,6 +74758,95 @@ positive regulation of nonselective cation channel activity positive regulation of cation channel activity + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that modulates the frequency, rate or extent of glucose import in response to insulin stimulus. + regulation of cellular glucose import in response to insulin stimulus + regulation of glucose import in response to insulin stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that stops, prevents or reduces the frequency, rate or extent of glucose import in response to insulin stimulus. + negative regulation of cellular glucose import in response to insulin stimulus + negative regulation of glucose import in response to insulin stimulus + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any process that activates or increases the frequency, rate or extent of glucose import in response to insulin stimulus. + positive regulation of cellular glucose import in response to insulin stimulus + positive regulation of glucose import in response to insulin stimulus + diff --git a/src/ontology/imports/go_terms.txt b/src/ontology/imports/go_terms.txt index 4abe420d5f..0c5c5e0841 100644 --- a/src/ontology/imports/go_terms.txt +++ b/src/ontology/imports/go_terms.txt @@ -5,6 +5,7 @@ http://purl.obolibrary.org/obo/GO_0000041 http://purl.obolibrary.org/obo/GO_0000050 http://purl.obolibrary.org/obo/GO_0000070 http://purl.obolibrary.org/obo/GO_0000096 +http://purl.obolibrary.org/obo/GO_0000098 http://purl.obolibrary.org/obo/GO_0000122 http://purl.obolibrary.org/obo/GO_0000226 http://purl.obolibrary.org/obo/GO_0000228 @@ -38,6 +39,7 @@ http://purl.obolibrary.org/obo/GO_0001649 http://purl.obolibrary.org/obo/GO_0001654 http://purl.obolibrary.org/obo/GO_0001667 http://purl.obolibrary.org/obo/GO_0001675 +http://purl.obolibrary.org/obo/GO_0001677 http://purl.obolibrary.org/obo/GO_0001755 http://purl.obolibrary.org/obo/GO_0001773 http://purl.obolibrary.org/obo/GO_0001775 @@ -73,6 +75,9 @@ http://purl.obolibrary.org/obo/GO_0001909 http://purl.obolibrary.org/obo/GO_0001910 http://purl.obolibrary.org/obo/GO_0001911 http://purl.obolibrary.org/obo/GO_0001912 +http://purl.obolibrary.org/obo/GO_0001932 +http://purl.obolibrary.org/obo/GO_0001933 +http://purl.obolibrary.org/obo/GO_0001934 http://purl.obolibrary.org/obo/GO_0001944 http://purl.obolibrary.org/obo/GO_0001959 http://purl.obolibrary.org/obo/GO_0001960 @@ -83,6 +88,10 @@ http://purl.obolibrary.org/obo/GO_0002082 http://purl.obolibrary.org/obo/GO_0002087 http://purl.obolibrary.org/obo/GO_0002088 http://purl.obolibrary.org/obo/GO_0002089 +http://purl.obolibrary.org/obo/GO_0002181 +http://purl.obolibrary.org/obo/GO_0002182 +http://purl.obolibrary.org/obo/GO_0002183 +http://purl.obolibrary.org/obo/GO_0002184 http://purl.obolibrary.org/obo/GO_0002200 http://purl.obolibrary.org/obo/GO_0002204 http://purl.obolibrary.org/obo/GO_0002208 @@ -284,6 +293,7 @@ http://purl.obolibrary.org/obo/GO_0003723 http://purl.obolibrary.org/obo/GO_0003810 http://purl.obolibrary.org/obo/GO_0003824 http://purl.obolibrary.org/obo/GO_0003842 +http://purl.obolibrary.org/obo/GO_0003845 http://purl.obolibrary.org/obo/GO_0003867 http://purl.obolibrary.org/obo/GO_0003872 http://purl.obolibrary.org/obo/GO_0003940 @@ -300,6 +310,7 @@ http://purl.obolibrary.org/obo/GO_0004332 http://purl.obolibrary.org/obo/GO_0004336 http://purl.obolibrary.org/obo/GO_0004339 http://purl.obolibrary.org/obo/GO_0004345 +http://purl.obolibrary.org/obo/GO_0004346 http://purl.obolibrary.org/obo/GO_0004347 http://purl.obolibrary.org/obo/GO_0004348 http://purl.obolibrary.org/obo/GO_0004351 @@ -326,6 +337,10 @@ http://purl.obolibrary.org/obo/GO_0004614 http://purl.obolibrary.org/obo/GO_0004618 http://purl.obolibrary.org/obo/GO_0004619 http://purl.obolibrary.org/obo/GO_0004634 +http://purl.obolibrary.org/obo/GO_0004672 +http://purl.obolibrary.org/obo/GO_0004674 +http://purl.obolibrary.org/obo/GO_0004683 +http://purl.obolibrary.org/obo/GO_0004689 http://purl.obolibrary.org/obo/GO_0004737 http://purl.obolibrary.org/obo/GO_0004743 http://purl.obolibrary.org/obo/GO_0004749 @@ -454,7 +469,17 @@ http://purl.obolibrary.org/obo/GO_0006357 http://purl.obolibrary.org/obo/GO_0006366 http://purl.obolibrary.org/obo/GO_0006390 http://purl.obolibrary.org/obo/GO_0006396 +http://purl.obolibrary.org/obo/GO_0006412 +http://purl.obolibrary.org/obo/GO_0006413 +http://purl.obolibrary.org/obo/GO_0006414 +http://purl.obolibrary.org/obo/GO_0006415 +http://purl.obolibrary.org/obo/GO_0006417 +http://purl.obolibrary.org/obo/GO_0006446 +http://purl.obolibrary.org/obo/GO_0006448 +http://purl.obolibrary.org/obo/GO_0006449 http://purl.obolibrary.org/obo/GO_0006464 +http://purl.obolibrary.org/obo/GO_0006468 +http://purl.obolibrary.org/obo/GO_0006469 http://purl.obolibrary.org/obo/GO_0006486 http://purl.obolibrary.org/obo/GO_0006487 http://purl.obolibrary.org/obo/GO_0006493 @@ -469,6 +494,7 @@ http://purl.obolibrary.org/obo/GO_0006521 http://purl.obolibrary.org/obo/GO_0006541 http://purl.obolibrary.org/obo/GO_0006544 http://purl.obolibrary.org/obo/GO_0006547 +http://purl.obolibrary.org/obo/GO_0006555 http://purl.obolibrary.org/obo/GO_0006558 http://purl.obolibrary.org/obo/GO_0006560 http://purl.obolibrary.org/obo/GO_0006563 @@ -549,6 +575,7 @@ http://purl.obolibrary.org/obo/GO_0006879 http://purl.obolibrary.org/obo/GO_0006885 http://purl.obolibrary.org/obo/GO_0006886 http://purl.obolibrary.org/obo/GO_0006897 +http://purl.obolibrary.org/obo/GO_0006898 http://purl.obolibrary.org/obo/GO_0006900 http://purl.obolibrary.org/obo/GO_0006903 http://purl.obolibrary.org/obo/GO_0006909 @@ -605,6 +632,7 @@ http://purl.obolibrary.org/obo/GO_0007283 http://purl.obolibrary.org/obo/GO_0007286 http://purl.obolibrary.org/obo/GO_0007288 http://purl.obolibrary.org/obo/GO_0007289 +http://purl.obolibrary.org/obo/GO_0007320 http://purl.obolibrary.org/obo/GO_0007346 http://purl.obolibrary.org/obo/GO_0007399 http://purl.obolibrary.org/obo/GO_0007417 @@ -644,10 +672,12 @@ http://purl.obolibrary.org/obo/GO_0008016 http://purl.obolibrary.org/obo/GO_0008066 http://purl.obolibrary.org/obo/GO_0008080 http://purl.obolibrary.org/obo/GO_0008104 +http://purl.obolibrary.org/obo/GO_0008119 http://purl.obolibrary.org/obo/GO_0008144 http://purl.obolibrary.org/obo/GO_0008150 http://purl.obolibrary.org/obo/GO_0008152 http://purl.obolibrary.org/obo/GO_0008168 +http://purl.obolibrary.org/obo/GO_0008172 http://purl.obolibrary.org/obo/GO_0008202 http://purl.obolibrary.org/obo/GO_0008203 http://purl.obolibrary.org/obo/GO_0008206 @@ -697,11 +727,13 @@ http://purl.obolibrary.org/obo/GO_0009060 http://purl.obolibrary.org/obo/GO_0009063 http://purl.obolibrary.org/obo/GO_0009064 http://purl.obolibrary.org/obo/GO_0009066 +http://purl.obolibrary.org/obo/GO_0009068 http://purl.obolibrary.org/obo/GO_0009069 http://purl.obolibrary.org/obo/GO_0009070 http://purl.obolibrary.org/obo/GO_0009072 http://purl.obolibrary.org/obo/GO_0009074 http://purl.obolibrary.org/obo/GO_0009081 +http://purl.obolibrary.org/obo/GO_0009087 http://purl.obolibrary.org/obo/GO_0009100 http://purl.obolibrary.org/obo/GO_0009101 http://purl.obolibrary.org/obo/GO_0009106 @@ -814,6 +846,7 @@ http://purl.obolibrary.org/obo/GO_0010565 http://purl.obolibrary.org/obo/GO_0010566 http://purl.obolibrary.org/obo/GO_0010604 http://purl.obolibrary.org/obo/GO_0010605 +http://purl.obolibrary.org/obo/GO_0010608 http://purl.obolibrary.org/obo/GO_0010623 http://purl.obolibrary.org/obo/GO_0010628 http://purl.obolibrary.org/obo/GO_0010629 @@ -854,6 +887,9 @@ http://purl.obolibrary.org/obo/GO_0010906 http://purl.obolibrary.org/obo/GO_0010907 http://purl.obolibrary.org/obo/GO_0010911 http://purl.obolibrary.org/obo/GO_0010912 +http://purl.obolibrary.org/obo/GO_0010921 +http://purl.obolibrary.org/obo/GO_0010922 +http://purl.obolibrary.org/obo/GO_0010923 http://purl.obolibrary.org/obo/GO_0010927 http://purl.obolibrary.org/obo/GO_0010941 http://purl.obolibrary.org/obo/GO_0010942 @@ -866,6 +902,9 @@ http://purl.obolibrary.org/obo/GO_0010955 http://purl.obolibrary.org/obo/GO_0010957 http://purl.obolibrary.org/obo/GO_0010959 http://purl.obolibrary.org/obo/GO_0010970 +http://purl.obolibrary.org/obo/GO_0010984 +http://purl.obolibrary.org/obo/GO_0010985 +http://purl.obolibrary.org/obo/GO_0010986 http://purl.obolibrary.org/obo/GO_0012501 http://purl.obolibrary.org/obo/GO_0012505 http://purl.obolibrary.org/obo/GO_0012506 @@ -888,10 +927,13 @@ http://purl.obolibrary.org/obo/GO_0015085 http://purl.obolibrary.org/obo/GO_0015103 http://purl.obolibrary.org/obo/GO_0015108 http://purl.obolibrary.org/obo/GO_0015136 +http://purl.obolibrary.org/obo/GO_0015152 http://purl.obolibrary.org/obo/GO_0015238 http://purl.obolibrary.org/obo/GO_0015267 http://purl.obolibrary.org/obo/GO_0015276 +http://purl.obolibrary.org/obo/GO_0015291 http://purl.obolibrary.org/obo/GO_0015318 +http://purl.obolibrary.org/obo/GO_0015349 http://purl.obolibrary.org/obo/GO_0015669 http://purl.obolibrary.org/obo/GO_0015671 http://purl.obolibrary.org/obo/GO_0015672 @@ -899,10 +941,13 @@ http://purl.obolibrary.org/obo/GO_0015693 http://purl.obolibrary.org/obo/GO_0015696 http://purl.obolibrary.org/obo/GO_0015698 http://purl.obolibrary.org/obo/GO_0015711 +http://purl.obolibrary.org/obo/GO_0015712 http://purl.obolibrary.org/obo/GO_0015723 http://purl.obolibrary.org/obo/GO_0015739 +http://purl.obolibrary.org/obo/GO_0015748 http://purl.obolibrary.org/obo/GO_0015749 http://purl.obolibrary.org/obo/GO_0015758 +http://purl.obolibrary.org/obo/GO_0015760 http://purl.obolibrary.org/obo/GO_0015804 http://purl.obolibrary.org/obo/GO_0015833 http://purl.obolibrary.org/obo/GO_0015837 @@ -950,6 +995,7 @@ http://purl.obolibrary.org/obo/GO_0016229 http://purl.obolibrary.org/obo/GO_0016250 http://purl.obolibrary.org/obo/GO_0016301 http://purl.obolibrary.org/obo/GO_0016310 +http://purl.obolibrary.org/obo/GO_0016311 http://purl.obolibrary.org/obo/GO_0016331 http://purl.obolibrary.org/obo/GO_0016406 http://purl.obolibrary.org/obo/GO_0016407 @@ -995,6 +1041,7 @@ http://purl.obolibrary.org/obo/GO_0016774 http://purl.obolibrary.org/obo/GO_0016778 http://purl.obolibrary.org/obo/GO_0016787 http://purl.obolibrary.org/obo/GO_0016788 +http://purl.obolibrary.org/obo/GO_0016791 http://purl.obolibrary.org/obo/GO_0016798 http://purl.obolibrary.org/obo/GO_0016810 http://purl.obolibrary.org/obo/GO_0016811 @@ -1007,6 +1054,8 @@ http://purl.obolibrary.org/obo/GO_0016831 http://purl.obolibrary.org/obo/GO_0016832 http://purl.obolibrary.org/obo/GO_0016835 http://purl.obolibrary.org/obo/GO_0016836 +http://purl.obolibrary.org/obo/GO_0016840 +http://purl.obolibrary.org/obo/GO_0016842 http://purl.obolibrary.org/obo/GO_0016853 http://purl.obolibrary.org/obo/GO_0016860 http://purl.obolibrary.org/obo/GO_0016861 @@ -1023,6 +1072,7 @@ http://purl.obolibrary.org/obo/GO_0017099 http://purl.obolibrary.org/obo/GO_0017119 http://purl.obolibrary.org/obo/GO_0017144 http://purl.obolibrary.org/obo/GO_0017145 +http://purl.obolibrary.org/obo/GO_0017148 http://purl.obolibrary.org/obo/GO_0017168 http://purl.obolibrary.org/obo/GO_0017171 http://purl.obolibrary.org/obo/GO_0018130 @@ -1032,6 +1082,7 @@ http://purl.obolibrary.org/obo/GO_0018958 http://purl.obolibrary.org/obo/GO_0019098 http://purl.obolibrary.org/obo/GO_0019184 http://purl.obolibrary.org/obo/GO_0019200 +http://purl.obolibrary.org/obo/GO_0019203 http://purl.obolibrary.org/obo/GO_0019216 http://purl.obolibrary.org/obo/GO_0019217 http://purl.obolibrary.org/obo/GO_0019218 @@ -1089,8 +1140,11 @@ http://purl.obolibrary.org/obo/GO_0022600 http://purl.obolibrary.org/obo/GO_0022603 http://purl.obolibrary.org/obo/GO_0022607 http://purl.obolibrary.org/obo/GO_0022610 +http://purl.obolibrary.org/obo/GO_0022613 +http://purl.obolibrary.org/obo/GO_0022618 http://purl.obolibrary.org/obo/GO_0022626 http://purl.obolibrary.org/obo/GO_0022803 +http://purl.obolibrary.org/obo/GO_0022804 http://purl.obolibrary.org/obo/GO_0022824 http://purl.obolibrary.org/obo/GO_0022829 http://purl.obolibrary.org/obo/GO_0022832 @@ -1218,6 +1272,8 @@ http://purl.obolibrary.org/obo/GO_0031328 http://purl.obolibrary.org/obo/GO_0031329 http://purl.obolibrary.org/obo/GO_0031330 http://purl.obolibrary.org/obo/GO_0031331 +http://purl.obolibrary.org/obo/GO_0031333 +http://purl.obolibrary.org/obo/GO_0031334 http://purl.obolibrary.org/obo/GO_0031335 http://purl.obolibrary.org/obo/GO_0031336 http://purl.obolibrary.org/obo/GO_0031337 @@ -1274,12 +1330,18 @@ http://purl.obolibrary.org/obo/GO_0032106 http://purl.obolibrary.org/obo/GO_0032107 http://purl.obolibrary.org/obo/GO_0032108 http://purl.obolibrary.org/obo/GO_0032109 +http://purl.obolibrary.org/obo/GO_0032113 +http://purl.obolibrary.org/obo/GO_0032114 http://purl.obolibrary.org/obo/GO_0032217 http://purl.obolibrary.org/obo/GO_0032218 http://purl.obolibrary.org/obo/GO_0032259 http://purl.obolibrary.org/obo/GO_0032268 http://purl.obolibrary.org/obo/GO_0032269 http://purl.obolibrary.org/obo/GO_0032270 +http://purl.obolibrary.org/obo/GO_0032274 +http://purl.obolibrary.org/obo/GO_0032276 +http://purl.obolibrary.org/obo/GO_0032277 +http://purl.obolibrary.org/obo/GO_0032278 http://purl.obolibrary.org/obo/GO_0032350 http://purl.obolibrary.org/obo/GO_0032351 http://purl.obolibrary.org/obo/GO_0032352 @@ -1300,6 +1362,7 @@ http://purl.obolibrary.org/obo/GO_0032468 http://purl.obolibrary.org/obo/GO_0032501 http://purl.obolibrary.org/obo/GO_0032502 http://purl.obolibrary.org/obo/GO_0032504 +http://purl.obolibrary.org/obo/GO_0032543 http://purl.obolibrary.org/obo/GO_0032592 http://purl.obolibrary.org/obo/GO_0032594 http://purl.obolibrary.org/obo/GO_0032609 @@ -1322,6 +1385,8 @@ http://purl.obolibrary.org/obo/GO_0032891 http://purl.obolibrary.org/obo/GO_0032892 http://purl.obolibrary.org/obo/GO_0032940 http://purl.obolibrary.org/obo/GO_0032941 +http://purl.obolibrary.org/obo/GO_0032984 +http://purl.obolibrary.org/obo/GO_0032987 http://purl.obolibrary.org/obo/GO_0032989 http://purl.obolibrary.org/obo/GO_0032991 http://purl.obolibrary.org/obo/GO_0032997 @@ -1390,10 +1455,12 @@ http://purl.obolibrary.org/obo/GO_0034249 http://purl.obolibrary.org/obo/GO_0034250 http://purl.obolibrary.org/obo/GO_0034255 http://purl.obolibrary.org/obo/GO_0034311 +http://purl.obolibrary.org/obo/GO_0034381 http://purl.obolibrary.org/obo/GO_0034399 http://purl.obolibrary.org/obo/GO_0034404 http://purl.obolibrary.org/obo/GO_0034440 http://purl.obolibrary.org/obo/GO_0034613 +http://purl.obolibrary.org/obo/GO_0034622 http://purl.obolibrary.org/obo/GO_0034641 http://purl.obolibrary.org/obo/GO_0034644 http://purl.obolibrary.org/obo/GO_0034645 @@ -1427,17 +1494,22 @@ http://purl.obolibrary.org/obo/GO_0035235 http://purl.obolibrary.org/obo/GO_0035239 http://purl.obolibrary.org/obo/GO_0035295 http://purl.obolibrary.org/obo/GO_0035296 +http://purl.obolibrary.org/obo/GO_0035303 +http://purl.obolibrary.org/obo/GO_0035305 +http://purl.obolibrary.org/obo/GO_0035306 http://purl.obolibrary.org/obo/GO_0035369 http://purl.obolibrary.org/obo/GO_0035441 http://purl.obolibrary.org/obo/GO_0035461 http://purl.obolibrary.org/obo/GO_0035556 http://purl.obolibrary.org/obo/GO_0035637 http://purl.obolibrary.org/obo/GO_0035735 +http://purl.obolibrary.org/obo/GO_0035773 http://purl.obolibrary.org/obo/GO_0035898 http://purl.obolibrary.org/obo/GO_0035929 http://purl.obolibrary.org/obo/GO_0035930 http://purl.obolibrary.org/obo/GO_0035931 http://purl.obolibrary.org/obo/GO_0035932 +http://purl.obolibrary.org/obo/GO_0035933 http://purl.obolibrary.org/obo/GO_0035935 http://purl.obolibrary.org/obo/GO_0035947 http://purl.obolibrary.org/obo/GO_0035948 @@ -1449,6 +1521,7 @@ http://purl.obolibrary.org/obo/GO_0036374 http://purl.obolibrary.org/obo/GO_0036378 http://purl.obolibrary.org/obo/GO_0036385 http://purl.obolibrary.org/obo/GO_0038023 +http://purl.obolibrary.org/obo/GO_0038024 http://purl.obolibrary.org/obo/GO_0038064 http://purl.obolibrary.org/obo/GO_0038065 http://purl.obolibrary.org/obo/GO_0040011 @@ -1510,6 +1583,7 @@ http://purl.obolibrary.org/obo/GO_0042552 http://purl.obolibrary.org/obo/GO_0042558 http://purl.obolibrary.org/obo/GO_0042562 http://purl.obolibrary.org/obo/GO_0042571 +http://purl.obolibrary.org/obo/GO_0042578 http://purl.obolibrary.org/obo/GO_0042579 http://purl.obolibrary.org/obo/GO_0042582 http://purl.obolibrary.org/obo/GO_0042588 @@ -1520,6 +1594,7 @@ http://purl.obolibrary.org/obo/GO_0042613 http://purl.obolibrary.org/obo/GO_0042632 http://purl.obolibrary.org/obo/GO_0042645 http://purl.obolibrary.org/obo/GO_0042692 +http://purl.obolibrary.org/obo/GO_0042713 http://purl.obolibrary.org/obo/GO_0042737 http://purl.obolibrary.org/obo/GO_0042742 http://purl.obolibrary.org/obo/GO_0042745 @@ -1559,6 +1634,7 @@ http://purl.obolibrary.org/obo/GO_0043122 http://purl.obolibrary.org/obo/GO_0043123 http://purl.obolibrary.org/obo/GO_0043124 http://purl.obolibrary.org/obo/GO_0043129 +http://purl.obolibrary.org/obo/GO_0043143 http://purl.obolibrary.org/obo/GO_0043167 http://purl.obolibrary.org/obo/GO_0043168 http://purl.obolibrary.org/obo/GO_0043170 @@ -1575,6 +1651,10 @@ http://purl.obolibrary.org/obo/GO_0043232 http://purl.obolibrary.org/obo/GO_0043233 http://purl.obolibrary.org/obo/GO_0043234 http://purl.obolibrary.org/obo/GO_0043235 +http://purl.obolibrary.org/obo/GO_0043242 +http://purl.obolibrary.org/obo/GO_0043243 +http://purl.obolibrary.org/obo/GO_0043244 +http://purl.obolibrary.org/obo/GO_0043254 http://purl.obolibrary.org/obo/GO_0043255 http://purl.obolibrary.org/obo/GO_0043269 http://purl.obolibrary.org/obo/GO_0043270 @@ -1585,6 +1665,7 @@ http://purl.obolibrary.org/obo/GO_0043384 http://purl.obolibrary.org/obo/GO_0043388 http://purl.obolibrary.org/obo/GO_0043392 http://purl.obolibrary.org/obo/GO_0043393 +http://purl.obolibrary.org/obo/GO_0043400 http://purl.obolibrary.org/obo/GO_0043401 http://purl.obolibrary.org/obo/GO_0043412 http://purl.obolibrary.org/obo/GO_0043413 @@ -1601,12 +1682,14 @@ http://purl.obolibrary.org/obo/GO_0043576 http://purl.obolibrary.org/obo/GO_0043588 http://purl.obolibrary.org/obo/GO_0043603 http://purl.obolibrary.org/obo/GO_0043604 +http://purl.obolibrary.org/obo/GO_0043624 http://purl.obolibrary.org/obo/GO_0043648 http://purl.obolibrary.org/obo/GO_0043891 http://purl.obolibrary.org/obo/GO_0043900 http://purl.obolibrary.org/obo/GO_0043901 http://purl.obolibrary.org/obo/GO_0043902 http://purl.obolibrary.org/obo/GO_0043932 +http://purl.obolibrary.org/obo/GO_0043933 http://purl.obolibrary.org/obo/GO_0044042 http://purl.obolibrary.org/obo/GO_0044057 http://purl.obolibrary.org/obo/GO_0044058 @@ -1634,9 +1717,11 @@ http://purl.obolibrary.org/obo/GO_0044267 http://purl.obolibrary.org/obo/GO_0044270 http://purl.obolibrary.org/obo/GO_0044271 http://purl.obolibrary.org/obo/GO_0044272 +http://purl.obolibrary.org/obo/GO_0044273 http://purl.obolibrary.org/obo/GO_0044281 http://purl.obolibrary.org/obo/GO_0044282 http://purl.obolibrary.org/obo/GO_0044283 +http://purl.obolibrary.org/obo/GO_0044381 http://purl.obolibrary.org/obo/GO_0044420 http://purl.obolibrary.org/obo/GO_0044421 http://purl.obolibrary.org/obo/GO_0044422 @@ -1680,6 +1765,7 @@ http://purl.obolibrary.org/obo/GO_0045132 http://purl.obolibrary.org/obo/GO_0045144 http://purl.obolibrary.org/obo/GO_0045165 http://purl.obolibrary.org/obo/GO_0045168 +http://purl.obolibrary.org/obo/GO_0045182 http://purl.obolibrary.org/obo/GO_0045184 http://purl.obolibrary.org/obo/GO_0045187 http://purl.obolibrary.org/obo/GO_0045190 @@ -1761,6 +1847,7 @@ http://purl.obolibrary.org/obo/GO_0045721 http://purl.obolibrary.org/obo/GO_0045722 http://purl.obolibrary.org/obo/GO_0045723 http://purl.obolibrary.org/obo/GO_0045724 +http://purl.obolibrary.org/obo/GO_0045727 http://purl.obolibrary.org/obo/GO_0045738 http://purl.obolibrary.org/obo/GO_0045739 http://purl.obolibrary.org/obo/GO_0045759 @@ -1792,12 +1879,18 @@ http://purl.obolibrary.org/obo/GO_0045839 http://purl.obolibrary.org/obo/GO_0045840 http://purl.obolibrary.org/obo/GO_0045843 http://purl.obolibrary.org/obo/GO_0045844 +http://purl.obolibrary.org/obo/GO_0045859 +http://purl.obolibrary.org/obo/GO_0045860 http://purl.obolibrary.org/obo/GO_0045861 http://purl.obolibrary.org/obo/GO_0045862 http://purl.obolibrary.org/obo/GO_0045863 http://purl.obolibrary.org/obo/GO_0045864 http://purl.obolibrary.org/obo/GO_0045892 http://purl.obolibrary.org/obo/GO_0045893 +http://purl.obolibrary.org/obo/GO_0045900 +http://purl.obolibrary.org/obo/GO_0045901 +http://purl.obolibrary.org/obo/GO_0045904 +http://purl.obolibrary.org/obo/GO_0045905 http://purl.obolibrary.org/obo/GO_0045906 http://purl.obolibrary.org/obo/GO_0045907 http://purl.obolibrary.org/obo/GO_0045910 @@ -1820,6 +1913,8 @@ http://purl.obolibrary.org/obo/GO_0045938 http://purl.obolibrary.org/obo/GO_0045939 http://purl.obolibrary.org/obo/GO_0045940 http://purl.obolibrary.org/obo/GO_0045944 +http://purl.obolibrary.org/obo/GO_0045947 +http://purl.obolibrary.org/obo/GO_0045948 http://purl.obolibrary.org/obo/GO_0045980 http://purl.obolibrary.org/obo/GO_0045981 http://purl.obolibrary.org/obo/GO_0045982 @@ -1899,6 +1994,9 @@ http://purl.obolibrary.org/obo/GO_0048199 http://purl.obolibrary.org/obo/GO_0048209 http://purl.obolibrary.org/obo/GO_0048232 http://purl.obolibrary.org/obo/GO_0048240 +http://purl.obolibrary.org/obo/GO_0048259 +http://purl.obolibrary.org/obo/GO_0048260 +http://purl.obolibrary.org/obo/GO_0048261 http://purl.obolibrary.org/obo/GO_0048285 http://purl.obolibrary.org/obo/GO_0048468 http://purl.obolibrary.org/obo/GO_0048469 @@ -1947,6 +2045,8 @@ http://purl.obolibrary.org/obo/GO_0048872 http://purl.obolibrary.org/obo/GO_0048873 http://purl.obolibrary.org/obo/GO_0048875 http://purl.obolibrary.org/obo/GO_0048878 +http://purl.obolibrary.org/obo/GO_0050308 +http://purl.obolibrary.org/obo/GO_0050309 http://purl.obolibrary.org/obo/GO_0050432 http://purl.obolibrary.org/obo/GO_0050433 http://purl.obolibrary.org/obo/GO_0050664 @@ -2127,6 +2227,9 @@ http://purl.obolibrary.org/obo/GO_0051458 http://purl.obolibrary.org/obo/GO_0051459 http://purl.obolibrary.org/obo/GO_0051460 http://purl.obolibrary.org/obo/GO_0051461 +http://purl.obolibrary.org/obo/GO_0051462 +http://purl.obolibrary.org/obo/GO_0051463 +http://purl.obolibrary.org/obo/GO_0051464 http://purl.obolibrary.org/obo/GO_0051493 http://purl.obolibrary.org/obo/GO_0051494 http://purl.obolibrary.org/obo/GO_0051495 @@ -2288,6 +2391,7 @@ http://purl.obolibrary.org/obo/GO_0061337 http://purl.obolibrary.org/obo/GO_0061370 http://purl.obolibrary.org/obo/GO_0061448 http://purl.obolibrary.org/obo/GO_0061512 +http://purl.obolibrary.org/obo/GO_0061547 http://purl.obolibrary.org/obo/GO_0061615 http://purl.obolibrary.org/obo/GO_0061620 http://purl.obolibrary.org/obo/GO_0061622 @@ -2295,6 +2399,7 @@ http://purl.obolibrary.org/obo/GO_0061626 http://purl.obolibrary.org/obo/GO_0061702 http://purl.obolibrary.org/obo/GO_0061844 http://purl.obolibrary.org/obo/GO_0061983 +http://purl.obolibrary.org/obo/GO_0065003 http://purl.obolibrary.org/obo/GO_0065007 http://purl.obolibrary.org/obo/GO_0065008 http://purl.obolibrary.org/obo/GO_0065009 @@ -2307,6 +2412,15 @@ http://purl.obolibrary.org/obo/GO_0070091 http://purl.obolibrary.org/obo/GO_0070092 http://purl.obolibrary.org/obo/GO_0070093 http://purl.obolibrary.org/obo/GO_0070094 +http://purl.obolibrary.org/obo/GO_0070124 +http://purl.obolibrary.org/obo/GO_0070125 +http://purl.obolibrary.org/obo/GO_0070126 +http://purl.obolibrary.org/obo/GO_0070129 +http://purl.obolibrary.org/obo/GO_0070130 +http://purl.obolibrary.org/obo/GO_0070131 +http://purl.obolibrary.org/obo/GO_0070132 +http://purl.obolibrary.org/obo/GO_0070133 +http://purl.obolibrary.org/obo/GO_0070134 http://purl.obolibrary.org/obo/GO_0070161 http://purl.obolibrary.org/obo/GO_0070192 http://purl.obolibrary.org/obo/GO_0070201 @@ -2328,6 +2442,7 @@ http://purl.obolibrary.org/obo/GO_0070563 http://purl.obolibrary.org/obo/GO_0070564 http://purl.obolibrary.org/obo/GO_0070588 http://purl.obolibrary.org/obo/GO_0070613 +http://purl.obolibrary.org/obo/GO_0070626 http://purl.obolibrary.org/obo/GO_0070640 http://purl.obolibrary.org/obo/GO_0070643 http://purl.obolibrary.org/obo/GO_0070727 @@ -2374,7 +2489,15 @@ http://purl.obolibrary.org/obo/GO_0071738 http://purl.obolibrary.org/obo/GO_0071742 http://purl.obolibrary.org/obo/GO_0071745 http://purl.obolibrary.org/obo/GO_0071753 +http://purl.obolibrary.org/obo/GO_0071825 +http://purl.obolibrary.org/obo/GO_0071826 +http://purl.obolibrary.org/obo/GO_0071827 +http://purl.obolibrary.org/obo/GO_0071829 +http://purl.obolibrary.org/obo/GO_0071830 http://purl.obolibrary.org/obo/GO_0071840 +http://purl.obolibrary.org/obo/GO_0071900 +http://purl.obolibrary.org/obo/GO_0071901 +http://purl.obolibrary.org/obo/GO_0071902 http://purl.obolibrary.org/obo/GO_0071941 http://purl.obolibrary.org/obo/GO_0071944 http://purl.obolibrary.org/obo/GO_0071971 @@ -2452,6 +2575,7 @@ http://purl.obolibrary.org/obo/GO_0090594 http://purl.obolibrary.org/obo/GO_0090596 http://purl.obolibrary.org/obo/GO_0090665 http://purl.obolibrary.org/obo/GO_0093001 +http://purl.obolibrary.org/obo/GO_0097006 http://purl.obolibrary.org/obo/GO_0097014 http://purl.obolibrary.org/obo/GO_0097028 http://purl.obolibrary.org/obo/GO_0097060 @@ -2520,6 +2644,7 @@ http://purl.obolibrary.org/obo/GO_0098962 http://purl.obolibrary.org/obo/GO_0098975 http://purl.obolibrary.org/obo/GO_0098976 http://purl.obolibrary.org/obo/GO_0099003 +http://purl.obolibrary.org/obo/GO_0099004 http://purl.obolibrary.org/obo/GO_0099023 http://purl.obolibrary.org/obo/GO_0099024 http://purl.obolibrary.org/obo/GO_0099055 @@ -2541,12 +2666,16 @@ http://purl.obolibrary.org/obo/GO_0099529 http://purl.obolibrary.org/obo/GO_0099531 http://purl.obolibrary.org/obo/GO_0099536 http://purl.obolibrary.org/obo/GO_0099537 +http://purl.obolibrary.org/obo/GO_0099547 http://purl.obolibrary.org/obo/GO_0099550 http://purl.obolibrary.org/obo/GO_0099565 http://purl.obolibrary.org/obo/GO_0099568 +http://purl.obolibrary.org/obo/GO_0099577 +http://purl.obolibrary.org/obo/GO_0099578 http://purl.obolibrary.org/obo/GO_0099601 http://purl.obolibrary.org/obo/GO_0099643 http://purl.obolibrary.org/obo/GO_0099699 +http://purl.obolibrary.org/obo/GO_0100002 http://purl.obolibrary.org/obo/GO_0100017 http://purl.obolibrary.org/obo/GO_0100020 http://purl.obolibrary.org/obo/GO_0100021 @@ -2605,6 +2734,9 @@ http://purl.obolibrary.org/obo/GO_1900122 http://purl.obolibrary.org/obo/GO_1900130 http://purl.obolibrary.org/obo/GO_1900131 http://purl.obolibrary.org/obo/GO_1900132 +http://purl.obolibrary.org/obo/GO_1900247 +http://purl.obolibrary.org/obo/GO_1900248 +http://purl.obolibrary.org/obo/GO_1900249 http://purl.obolibrary.org/obo/GO_1900371 http://purl.obolibrary.org/obo/GO_1900372 http://purl.obolibrary.org/obo/GO_1900373 @@ -2631,6 +2763,9 @@ http://purl.obolibrary.org/obo/GO_1901021 http://purl.obolibrary.org/obo/GO_1901135 http://purl.obolibrary.org/obo/GO_1901137 http://purl.obolibrary.org/obo/GO_1901148 +http://purl.obolibrary.org/obo/GO_1901190 +http://purl.obolibrary.org/obo/GO_1901191 +http://purl.obolibrary.org/obo/GO_1901192 http://purl.obolibrary.org/obo/GO_1901213 http://purl.obolibrary.org/obo/GO_1901227 http://purl.obolibrary.org/obo/GO_1901228 @@ -2861,6 +2996,9 @@ http://purl.obolibrary.org/obo/GO_1904172 http://purl.obolibrary.org/obo/GO_1904220 http://purl.obolibrary.org/obo/GO_1904221 http://purl.obolibrary.org/obo/GO_1904222 +http://purl.obolibrary.org/obo/GO_1904226 +http://purl.obolibrary.org/obo/GO_1904227 +http://purl.obolibrary.org/obo/GO_1904228 http://purl.obolibrary.org/obo/GO_1904251 http://purl.obolibrary.org/obo/GO_1904252 http://purl.obolibrary.org/obo/GO_1904253 @@ -2882,6 +3020,9 @@ http://purl.obolibrary.org/obo/GO_1904659 http://purl.obolibrary.org/obo/GO_1904675 http://purl.obolibrary.org/obo/GO_1904676 http://purl.obolibrary.org/obo/GO_1904677 +http://purl.obolibrary.org/obo/GO_1904688 +http://purl.obolibrary.org/obo/GO_1904689 +http://purl.obolibrary.org/obo/GO_1904690 http://purl.obolibrary.org/obo/GO_1904729 http://purl.obolibrary.org/obo/GO_1904730 http://purl.obolibrary.org/obo/GO_1904731 @@ -2892,11 +3033,15 @@ http://purl.obolibrary.org/obo/GO_1904774 http://purl.obolibrary.org/obo/GO_1904775 http://purl.obolibrary.org/obo/GO_1904782 http://purl.obolibrary.org/obo/GO_1904783 +http://purl.obolibrary.org/obo/GO_1904803 http://purl.obolibrary.org/obo/GO_1904950 http://purl.obolibrary.org/obo/GO_1904951 http://purl.obolibrary.org/obo/GO_1905030 http://purl.obolibrary.org/obo/GO_1905038 http://purl.obolibrary.org/obo/GO_1905039 +http://purl.obolibrary.org/obo/GO_1905082 +http://purl.obolibrary.org/obo/GO_1905083 +http://purl.obolibrary.org/obo/GO_1905084 http://purl.obolibrary.org/obo/GO_1905114 http://purl.obolibrary.org/obo/GO_1905123 http://purl.obolibrary.org/obo/GO_1905124 @@ -2935,6 +3080,7 @@ http://purl.obolibrary.org/obo/GO_1905954 http://purl.obolibrary.org/obo/GO_1990204 http://purl.obolibrary.org/obo/GO_1990266 http://purl.obolibrary.org/obo/GO_1990542 +http://purl.obolibrary.org/obo/GO_1990580 http://purl.obolibrary.org/obo/GO_1990731 http://purl.obolibrary.org/obo/GO_1990748 http://purl.obolibrary.org/obo/GO_1990904 @@ -2989,6 +3135,9 @@ http://purl.obolibrary.org/obo/GO_2000727 http://purl.obolibrary.org/obo/GO_2000736 http://purl.obolibrary.org/obo/GO_2000737 http://purl.obolibrary.org/obo/GO_2000738 +http://purl.obolibrary.org/obo/GO_2000765 +http://purl.obolibrary.org/obo/GO_2000766 +http://purl.obolibrary.org/obo/GO_2000767 http://purl.obolibrary.org/obo/GO_2000819 http://purl.obolibrary.org/obo/GO_2000823 http://purl.obolibrary.org/obo/GO_2000824 @@ -3005,6 +3154,9 @@ http://purl.obolibrary.org/obo/GO_2000836 http://purl.obolibrary.org/obo/GO_2000846 http://purl.obolibrary.org/obo/GO_2000847 http://purl.obolibrary.org/obo/GO_2000848 +http://purl.obolibrary.org/obo/GO_2000849 +http://purl.obolibrary.org/obo/GO_2000850 +http://purl.obolibrary.org/obo/GO_2000851 http://purl.obolibrary.org/obo/GO_2000855 http://purl.obolibrary.org/obo/GO_2000856 http://purl.obolibrary.org/obo/GO_2000857 diff --git a/src/ontology/imports/hp_import.obo b/src/ontology/imports/hp_import.obo index e962b36193..da48d3ecb5 100644 --- a/src/ontology/imports/hp_import.obo +++ b/src/ontology/imports/hp_import.obo @@ -2508,6 +2508,16 @@ xref: SNOMEDCT_US:3716002 xref: UMLS:C0018021 is_a: HP:0011772 ! Abnormality of thyroid morphology +[Term] +id: HP:0000855 +name: Insulin resistance +namespace: human_phenotype +def: "Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels." [HPO:probinson] +xref: MSH:D007333 +xref: SNOMEDCT_US:48606007 +xref: UMLS:C0021655 +is_a: HP:0011014 ! Abnormal glucose homeostasis + [Term] id: HP:0000858 name: Menstrual irregularities @@ -8848,6 +8858,17 @@ xref: SNOMEDCT_US:20018005 xref: UMLS:C0041956 is_a: HP:0000069 ! Abnormality of the ureter +[Term] +id: HP:0006476 +name: Abnormality of the pancreatic islet cells +namespace: human_phenotype +alt_id: HP:0100567 +def: "An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin." [HPO:probinson] +xref: UMLS:C4025043 +is_a: HP:0012093 ! Abnormality of endocrine pancreas physiology +created_by: peter +creation_date: 2008-03-28T04:41:00Z + [Term] id: HP:0006483 name: Abnormal number of teeth @@ -11736,6 +11757,17 @@ is_a: HP:0001732 ! Abnormality of the pancreas created_by: peter creation_date: 2012-08-20T09:17:10Z +[Term] +id: HP:0012093 +name: Abnormality of endocrine pancreas physiology +namespace: human_phenotype +def: "A function abnormality of the endocrine pancreas." [HPO:probinson] +xref: UMLS:C4023047 +is_a: HP:0000818 ! Abnormality of the endocrine system +is_a: HP:0012091 ! Abnormality of pancreas physiology +created_by: peter +creation_date: 2012-08-20T09:18:18Z + [Term] id: HP:0012115 name: Hepatitis diff --git a/src/ontology/imports/hp_import.owl b/src/ontology/imports/hp_import.owl index 0c0361f648..31d8ffa213 100644 --- a/src/ontology/imports/hp_import.owl +++ b/src/ontology/imports/hp_import.owl @@ -6872,6 +6872,27 @@ + + + + + Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. + MSH:D007333 + SNOMEDCT_US:48606007 + UMLS:C0021655 + human_phenotype + HP:0000855 + Insulin resistance + + + + + Increased resistance towards insulin, that is, diminished effectiveness of insulin in reducing blood glucose levels. + HPO:probinson + + + + @@ -13335,6 +13356,12 @@ HP:0001974 Leukocytosis + + + + High white blood count + + @@ -13354,12 +13381,6 @@ Elevated white blood count - - - - High white blood count - - @@ -21593,6 +21614,28 @@ Dysfunction leads to weakness, impairment of fine motor movements, spasticity, h + + + + + An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. + peter + 2008-03-28T04:41:00Z + HP:0100567 + UMLS:C4025043 + human_phenotype + HP:0006476 + Abnormality of the pancreatic islet cells + + + + + An abnormality of the islet of Langerhans, i.e., of the regions of the pancreas that contain its endocrine cells. These are the alpha cells, which produce glucagon, the beta cells, which produce insulin and amylin, the delta cells, which produce somatostatin, the PP cells, which produce pancreatic polypeptide, and the epsilon cells, which produce ghrelin. + HPO:probinson + + + + @@ -27994,6 +28037,28 @@ and two otolith organs that are sensitive to linear acceleration. + + + + + + A function abnormality of the endocrine pancreas. + peter + 2012-08-20T09:18:18Z + UMLS:C4023047 + human_phenotype + HP:0012093 + Abnormality of endocrine pancreas physiology + + + + + A function abnormality of the endocrine pancreas. + HPO:probinson + + + + diff --git a/src/ontology/imports/hp_terms.txt b/src/ontology/imports/hp_terms.txt index acb7d2f4a5..351a041b1c 100644 --- a/src/ontology/imports/hp_terms.txt +++ b/src/ontology/imports/hp_terms.txt @@ -168,6 +168,7 @@ http://purl.obolibrary.org/obo/HP_0000843 http://purl.obolibrary.org/obo/HP_0000846 http://purl.obolibrary.org/obo/HP_0000847 http://purl.obolibrary.org/obo/HP_0000853 +http://purl.obolibrary.org/obo/HP_0000855 http://purl.obolibrary.org/obo/HP_0000858 http://purl.obolibrary.org/obo/HP_0000859 http://purl.obolibrary.org/obo/HP_0000864 @@ -629,6 +630,7 @@ http://purl.obolibrary.org/obo/HP_0005607 http://purl.obolibrary.org/obo/HP_0005656 http://purl.obolibrary.org/obo/HP_0005832 http://purl.obolibrary.org/obo/HP_0006000 +http://purl.obolibrary.org/obo/HP_0006476 http://purl.obolibrary.org/obo/HP_0006483 http://purl.obolibrary.org/obo/HP_0006487 http://purl.obolibrary.org/obo/HP_0006504 diff --git a/src/ontology/imports/ncbitaxon_import.obo b/src/ontology/imports/ncbitaxon_import.obo index 9cdd3f6af5..4f17e93fc6 100644 --- a/src/ontology/imports/ncbitaxon_import.obo +++ b/src/ontology/imports/ncbitaxon_import.obo @@ -77,6 +77,18 @@ xref: GC_ID:1 is_a: NCBITaxon:39107 ! Murinae property_value: has_rank NCBITaxon:genus +[Term] +id: NCBITaxon:10232 +name: Acanthocephala +namespace: ncbi_taxonomy +synonym: "acanthocephalans" EXACT common_name [] +synonym: "spiny-headed worms" EXACT common_name [] +synonym: "thorny-headed worms" EXACT genbank_common_name [] +synonym: "thorny-headed worms" RELATED blast_name [] +xref: GC_ID:1 +is_a: NCBITaxon:1206795 ! Lophotrochozoa +property_value: has_rank NCBITaxon:phylum + [Term] id: NCBITaxon:10239 name: Viruses @@ -2515,6 +2527,23 @@ xref: GC_ID:1 is_a: NCBITaxon:119088 ! Enoplea property_value: has_rank NCBITaxon:subclass +[Term] +id: NCBITaxon:1463974 +name: Cryptostroma +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:189359 ! Xylariales incertae sedis +property_value: has_rank NCBITaxon:genus + +[Term] +id: NCBITaxon:1463975 +name: Cryptostroma corticale +namespace: ncbi_taxonomy +synonym: "Coniosporium corticale" RELATED synonym [] +xref: GC_ID:1 +is_a: NCBITaxon:1463974 ! Cryptostroma +property_value: has_rank NCBITaxon:species + [Term] id: NCBITaxon:147368 name: Pooideae @@ -3744,6 +3773,14 @@ is_a: NCBITaxon:83145 ! Eleutherengona id: NCBITaxon:1891762 alt_id: NCBITaxon:10629 +[Term] +id: NCBITaxon:189359 +name: Xylariales incertae sedis +namespace: ncbi_taxonomy +alt_id: NCBITaxon:67607 +xref: GC_ID:1 +is_a: NCBITaxon:37989 ! Xylariales + [Term] id: NCBITaxon:1897064 name: Cryptococcus neoformans species complex @@ -3791,6 +3828,15 @@ xref: PMID:15264635 is_a: NCBITaxon:1056966 ! Aedini property_value: has_rank NCBITaxon:genus +[Term] +id: NCBITaxon:1913637 +name: Mucoromycota +namespace: ncbi_taxonomy +xref: GC_ID:1 +xref: PMID:27738200 +is_a: NCBITaxon:4751 ! Fungi +property_value: has_rank NCBITaxon:phylum + [Term] id: NCBITaxon:1913638 name: Zoopagomycota @@ -4386,6 +4432,14 @@ xref: GC_ID:1 is_a: NCBITaxon:147550 ! Sordariomycetes property_value: has_rank NCBITaxon:subclass +[Term] +id: NCBITaxon:222545 +name: Xylariomycetidae +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:147550 ! Sordariomycetes +property_value: has_rank NCBITaxon:subclass + [Term] id: NCBITaxon:223472 name: Psoroptidia @@ -6346,6 +6400,15 @@ xref: GC_ID:1 is_a: NCBITaxon:147553 ! Pneumocystidomycetes property_value: has_rank NCBITaxon:order +[Term] +id: NCBITaxon:37989 +name: Xylariales +namespace: ncbi_taxonomy +synonym: "Sphaeriales" RELATED synonym [] +xref: GC_ID:1 +is_a: NCBITaxon:222545 ! Xylariomycetidae +property_value: has_rank NCBITaxon:order + [Term] id: NCBITaxon:38323 name: Bartonella henselae @@ -7217,6 +7280,20 @@ xref: GC_ID:1 is_a: NCBITaxon:38820 ! Poales property_value: has_rank NCBITaxon:family +[Term] +id: NCBITaxon:451507 +name: Mucoromycotina +namespace: ncbi_taxonomy +synonym: "Zygomycota" RELATED in_part [] +xref: GC_ID:1 +xref: PMID:14715234 +xref: PMID:17010206 +xref: PMID:17051209 +xref: PMID:17572334 +xref: PMID:27738200 +is_a: NCBITaxon:1913637 ! Mucoromycota +property_value: has_rank NCBITaxon:subphylum + [Term] id: NCBITaxon:451864 name: Dikarya @@ -9251,6 +9328,14 @@ xref: GC_ID:1 is_a: NCBITaxon:6209 ! Echinococcus property_value: has_rank NCBITaxon:species +[Term] +id: NCBITaxon:6213 +name: Echinococcus vogeli +namespace: ncbi_taxonomy +xref: GC_ID:1 +is_a: NCBITaxon:6209 ! Echinococcus +property_value: has_rank NCBITaxon:species + [Term] id: NCBITaxon:6231 name: Nematoda diff --git a/src/ontology/imports/ncbitaxon_import.owl b/src/ontology/imports/ncbitaxon_import.owl index 66cb33bee8..4561d62dd8 100644 --- a/src/ontology/imports/ncbitaxon_import.owl +++ b/src/ontology/imports/ncbitaxon_import.owl @@ -326,6 +326,47 @@ + + + + + + GC_ID:1 + acanthocephalans + spiny-headed worms + thorny-headed worms + ncbi_taxonomy + thorny-headed worms + NCBITaxon:10232 + Acanthocephala + + + + + acanthocephalans + + + + + + spiny-headed worms + + + + + + thorny-headed worms + + + + + + thorny-headed worms + + + + + @@ -1622,43 +1663,43 @@ - dengue virus type 1 DEN1 + Dengue virus type 1 - dengue virus type I - + Type 1 dengue virus + - dengue virus-1 DEN-1 + dengue type 1 D1 virus - type 1 dengue virus DEN-1 + dengue virus type 1 DEN1 - Dengue virus type 1 + dengue virus type I - Type 1 dengue virus - + dengue virus-1 DEN-1 + - dengue type 1 D1 virus + type 1 dengue virus DEN-1 @@ -6536,6 +6577,39 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:1463974 + Cryptostroma + + + + + + + + + + GC_ID:1 + ncbi_taxonomy + Coniosporium corticale + NCBITaxon:1463975 + Cryptostroma corticale + + + + + Coniosporium corticale + + + + + @@ -9249,6 +9323,19 @@ + + + + + NCBITaxon:67607 + GC_ID:1 + ncbi_taxonomy + NCBITaxon:189359 + Xylariales incertae sedis + + + + @@ -9345,6 +9432,20 @@ + + + + + + GC_ID:1 + PMID:27738200 + ncbi_taxonomy + NCBITaxon:1913637 + Mucoromycota + + + + @@ -10501,6 +10602,19 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:222545 + Xylariomycetidae + + + + @@ -15073,6 +15187,26 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + Sphaeriales + NCBITaxon:37989 + Xylariales + + + + + Sphaeriales + + + + + @@ -16874,6 +17008,31 @@ + + + + + + GC_ID:1 + PMID:14715234 + PMID:17010206 + PMID:17051209 + PMID:17572334 + PMID:27738200 + ncbi_taxonomy + Zygomycota + NCBITaxon:451507 + Mucoromycotina + + + + + Zygomycota + + + + + @@ -17319,13 +17478,13 @@ - Commeliniflorae + Commelinidae - Commelinidae + Commeliniflorae @@ -21294,6 +21453,19 @@ + + + + + + GC_ID:1 + ncbi_taxonomy + NCBITaxon:6213 + Echinococcus vogeli + + + + diff --git a/src/ontology/imports/ro_terms.txt b/src/ontology/imports/ro_terms.txt index 9cdf91763d..49f4ad883f 100644 --- a/src/ontology/imports/ro_terms.txt +++ b/src/ontology/imports/ro_terms.txt @@ -205,6 +205,7 @@ http://purl.obolibrary.org/obo/UBERON_0000167 http://purl.obolibrary.org/obo/UBERON_0000168 http://purl.obolibrary.org/obo/UBERON_0000170 http://purl.obolibrary.org/obo/UBERON_0000171 +http://purl.obolibrary.org/obo/UBERON_0000173 http://purl.obolibrary.org/obo/UBERON_0000174 http://purl.obolibrary.org/obo/UBERON_0000178 http://purl.obolibrary.org/obo/UBERON_0000179 @@ -212,7 +213,9 @@ http://purl.obolibrary.org/obo/UBERON_0000199 http://purl.obolibrary.org/obo/UBERON_0000200 http://purl.obolibrary.org/obo/UBERON_0000203 http://purl.obolibrary.org/obo/UBERON_0000211 +http://purl.obolibrary.org/obo/UBERON_0000301 http://purl.obolibrary.org/obo/UBERON_0000304 +http://purl.obolibrary.org/obo/UBERON_0000305 http://purl.obolibrary.org/obo/UBERON_0000307 http://purl.obolibrary.org/obo/UBERON_0000309 http://purl.obolibrary.org/obo/UBERON_0000310 @@ -675,6 +678,7 @@ http://purl.obolibrary.org/obo/UBERON_0001534 http://purl.obolibrary.org/obo/UBERON_0001535 http://purl.obolibrary.org/obo/UBERON_0001536 http://purl.obolibrary.org/obo/UBERON_0001542 +http://purl.obolibrary.org/obo/UBERON_0001543 http://purl.obolibrary.org/obo/UBERON_0001549 http://purl.obolibrary.org/obo/UBERON_0001554 http://purl.obolibrary.org/obo/UBERON_0001555 @@ -1204,6 +1208,7 @@ http://purl.obolibrary.org/obo/UBERON_0002457 http://purl.obolibrary.org/obo/UBERON_0002458 http://purl.obolibrary.org/obo/UBERON_0002459 http://purl.obolibrary.org/obo/UBERON_0002460 +http://purl.obolibrary.org/obo/UBERON_0002461 http://purl.obolibrary.org/obo/UBERON_0002465 http://purl.obolibrary.org/obo/UBERON_0002466 http://purl.obolibrary.org/obo/UBERON_0002469 @@ -1359,11 +1364,13 @@ http://purl.obolibrary.org/obo/UBERON_0003248 http://purl.obolibrary.org/obo/UBERON_0003249 http://purl.obolibrary.org/obo/UBERON_0003252 http://purl.obolibrary.org/obo/UBERON_0003253 +http://purl.obolibrary.org/obo/UBERON_0003254 http://purl.obolibrary.org/obo/UBERON_0003257 http://purl.obolibrary.org/obo/UBERON_0003258 http://purl.obolibrary.org/obo/UBERON_0003259 http://purl.obolibrary.org/obo/UBERON_0003260 http://purl.obolibrary.org/obo/UBERON_0003261 +http://purl.obolibrary.org/obo/UBERON_0003262 http://purl.obolibrary.org/obo/UBERON_0003265 http://purl.obolibrary.org/obo/UBERON_0003267 http://purl.obolibrary.org/obo/UBERON_0003268 @@ -1475,6 +1482,8 @@ http://purl.obolibrary.org/obo/UBERON_0003422 http://purl.obolibrary.org/obo/UBERON_0003424 http://purl.obolibrary.org/obo/UBERON_0003425 http://purl.obolibrary.org/obo/UBERON_0003426 +http://purl.obolibrary.org/obo/UBERON_0003427 +http://purl.obolibrary.org/obo/UBERON_0003428 http://purl.obolibrary.org/obo/UBERON_0003429 http://purl.obolibrary.org/obo/UBERON_0003430 http://purl.obolibrary.org/obo/UBERON_0003431 @@ -1767,6 +1776,7 @@ http://purl.obolibrary.org/obo/UBERON_0003911 http://purl.obolibrary.org/obo/UBERON_0003913 http://purl.obolibrary.org/obo/UBERON_0003914 http://purl.obolibrary.org/obo/UBERON_0003915 +http://purl.obolibrary.org/obo/UBERON_0003916 http://purl.obolibrary.org/obo/UBERON_0003918 http://purl.obolibrary.org/obo/UBERON_0003920 http://purl.obolibrary.org/obo/UBERON_0003921 @@ -2813,7 +2823,9 @@ http://purl.obolibrary.org/obo/UBERON_0006338 http://purl.obolibrary.org/obo/UBERON_0006339 http://purl.obolibrary.org/obo/UBERON_0006340 http://purl.obolibrary.org/obo/UBERON_0006347 +http://purl.obolibrary.org/obo/UBERON_0006349 http://purl.obolibrary.org/obo/UBERON_0006355 +http://purl.obolibrary.org/obo/UBERON_0006356 http://purl.obolibrary.org/obo/UBERON_0006435 http://purl.obolibrary.org/obo/UBERON_0006440 http://purl.obolibrary.org/obo/UBERON_0006444 @@ -2860,6 +2872,7 @@ http://purl.obolibrary.org/obo/UBERON_0006616 http://purl.obolibrary.org/obo/UBERON_0006617 http://purl.obolibrary.org/obo/UBERON_0006632 http://purl.obolibrary.org/obo/UBERON_0006633 +http://purl.obolibrary.org/obo/UBERON_0006635 http://purl.obolibrary.org/obo/UBERON_0006642 http://purl.obolibrary.org/obo/UBERON_0006645 http://purl.obolibrary.org/obo/UBERON_0006646 @@ -2875,6 +2888,7 @@ http://purl.obolibrary.org/obo/UBERON_0006661 http://purl.obolibrary.org/obo/UBERON_0006666 http://purl.obolibrary.org/obo/UBERON_0006668 http://purl.obolibrary.org/obo/UBERON_0006670 +http://purl.obolibrary.org/obo/UBERON_0006671 http://purl.obolibrary.org/obo/UBERON_0006675 http://purl.obolibrary.org/obo/UBERON_0006677 http://purl.obolibrary.org/obo/UBERON_0006682 @@ -3217,6 +3231,7 @@ http://purl.obolibrary.org/obo/UBERON_0008962 http://purl.obolibrary.org/obo/UBERON_0008969 http://purl.obolibrary.org/obo/UBERON_0008971 http://purl.obolibrary.org/obo/UBERON_0008974 +http://purl.obolibrary.org/obo/UBERON_0008982 http://purl.obolibrary.org/obo/UBERON_0008987 http://purl.obolibrary.org/obo/UBERON_0008989 http://purl.obolibrary.org/obo/UBERON_0008998 @@ -3358,6 +3373,7 @@ http://purl.obolibrary.org/obo/UBERON_0009712 http://purl.obolibrary.org/obo/UBERON_0009713 http://purl.obolibrary.org/obo/UBERON_0009715 http://purl.obolibrary.org/obo/UBERON_0009722 +http://purl.obolibrary.org/obo/UBERON_0009742 http://purl.obolibrary.org/obo/UBERON_0009744 http://purl.obolibrary.org/obo/UBERON_0009745 http://purl.obolibrary.org/obo/UBERON_0009749 @@ -3562,6 +3578,11 @@ http://purl.obolibrary.org/obo/UBERON_0010399 http://purl.obolibrary.org/obo/UBERON_0010400 http://purl.obolibrary.org/obo/UBERON_0010402 http://purl.obolibrary.org/obo/UBERON_0010409 +http://purl.obolibrary.org/obo/UBERON_0010410 +http://purl.obolibrary.org/obo/UBERON_0010411 +http://purl.obolibrary.org/obo/UBERON_0010412 +http://purl.obolibrary.org/obo/UBERON_0010413 +http://purl.obolibrary.org/obo/UBERON_0010414 http://purl.obolibrary.org/obo/UBERON_0010418 http://purl.obolibrary.org/obo/UBERON_0010424 http://purl.obolibrary.org/obo/UBERON_0010425 @@ -3868,6 +3889,7 @@ http://purl.obolibrary.org/obo/UBERON_0012142 http://purl.obolibrary.org/obo/UBERON_0012150 http://purl.obolibrary.org/obo/UBERON_0012151 http://purl.obolibrary.org/obo/UBERON_0012152 +http://purl.obolibrary.org/obo/UBERON_0012167 http://purl.obolibrary.org/obo/UBERON_0012168 http://purl.obolibrary.org/obo/UBERON_0012172 http://purl.obolibrary.org/obo/UBERON_0012175 @@ -3893,6 +3915,8 @@ http://purl.obolibrary.org/obo/UBERON_0012275 http://purl.obolibrary.org/obo/UBERON_0012276 http://purl.obolibrary.org/obo/UBERON_0012278 http://purl.obolibrary.org/obo/UBERON_0012281 +http://purl.obolibrary.org/obo/UBERON_0012282 +http://purl.obolibrary.org/obo/UBERON_0012283 http://purl.obolibrary.org/obo/UBERON_0012287 http://purl.obolibrary.org/obo/UBERON_0012292 http://purl.obolibrary.org/obo/UBERON_0012299 @@ -3961,6 +3985,7 @@ http://purl.obolibrary.org/obo/UBERON_0012650 http://purl.obolibrary.org/obo/UBERON_0012651 http://purl.obolibrary.org/obo/UBERON_0012652 http://purl.obolibrary.org/obo/UBERON_0013067 +http://purl.obolibrary.org/obo/UBERON_0013069 http://purl.obolibrary.org/obo/UBERON_0013118 http://purl.obolibrary.org/obo/UBERON_0013121 http://purl.obolibrary.org/obo/UBERON_0013122 @@ -3997,6 +4022,8 @@ http://purl.obolibrary.org/obo/UBERON_0013455 http://purl.obolibrary.org/obo/UBERON_0013472 http://purl.obolibrary.org/obo/UBERON_0013478 http://purl.obolibrary.org/obo/UBERON_0013479 +http://purl.obolibrary.org/obo/UBERON_0013491 +http://purl.obolibrary.org/obo/UBERON_0013493 http://purl.obolibrary.org/obo/UBERON_0013498 http://purl.obolibrary.org/obo/UBERON_0013501 http://purl.obolibrary.org/obo/UBERON_0013503 @@ -4034,6 +4061,10 @@ http://purl.obolibrary.org/obo/UBERON_0013701 http://purl.obolibrary.org/obo/UBERON_0013702 http://purl.obolibrary.org/obo/UBERON_0013703 http://purl.obolibrary.org/obo/UBERON_0013704 +http://purl.obolibrary.org/obo/UBERON_0013705 +http://purl.obolibrary.org/obo/UBERON_0013718 +http://purl.obolibrary.org/obo/UBERON_0013719 +http://purl.obolibrary.org/obo/UBERON_0013720 http://purl.obolibrary.org/obo/UBERON_0013727 http://purl.obolibrary.org/obo/UBERON_0013748 http://purl.obolibrary.org/obo/UBERON_0013749 @@ -4068,6 +4099,7 @@ http://purl.obolibrary.org/obo/UBERON_0014390 http://purl.obolibrary.org/obo/UBERON_0014391 http://purl.obolibrary.org/obo/UBERON_0014392 http://purl.obolibrary.org/obo/UBERON_0014393 +http://purl.obolibrary.org/obo/UBERON_0014394 http://purl.obolibrary.org/obo/UBERON_0014395 http://purl.obolibrary.org/obo/UBERON_0014399 http://purl.obolibrary.org/obo/UBERON_0014400 @@ -4078,6 +4110,7 @@ http://purl.obolibrary.org/obo/UBERON_0014453 http://purl.obolibrary.org/obo/UBERON_0014454 http://purl.obolibrary.org/obo/UBERON_0014455 http://purl.obolibrary.org/obo/UBERON_0014463 +http://purl.obolibrary.org/obo/UBERON_0014464 http://purl.obolibrary.org/obo/UBERON_0014466 http://purl.obolibrary.org/obo/UBERON_0014477 http://purl.obolibrary.org/obo/UBERON_0014478 @@ -4204,6 +4237,8 @@ http://purl.obolibrary.org/obo/UBERON_0015083 http://purl.obolibrary.org/obo/UBERON_0015128 http://purl.obolibrary.org/obo/UBERON_0015129 http://purl.obolibrary.org/obo/UBERON_0015130 +http://purl.obolibrary.org/obo/UBERON_0015142 +http://purl.obolibrary.org/obo/UBERON_0015143 http://purl.obolibrary.org/obo/UBERON_0015144 http://purl.obolibrary.org/obo/UBERON_0015145 http://purl.obolibrary.org/obo/UBERON_0015146 @@ -4233,8 +4268,11 @@ http://purl.obolibrary.org/obo/UBERON_0015418 http://purl.obolibrary.org/obo/UBERON_0015420 http://purl.obolibrary.org/obo/UBERON_0015423 http://purl.obolibrary.org/obo/UBERON_0015453 +http://purl.obolibrary.org/obo/UBERON_0015454 +http://purl.obolibrary.org/obo/UBERON_0015458 http://purl.obolibrary.org/obo/UBERON_0015474 http://purl.obolibrary.org/obo/UBERON_0015476 +http://purl.obolibrary.org/obo/UBERON_0015477 http://purl.obolibrary.org/obo/UBERON_0015479 http://purl.obolibrary.org/obo/UBERON_0015481 http://purl.obolibrary.org/obo/UBERON_0015482 @@ -4271,6 +4309,7 @@ http://purl.obolibrary.org/obo/UBERON_0015918 http://purl.obolibrary.org/obo/UBERON_0016392 http://purl.obolibrary.org/obo/UBERON_0016398 http://purl.obolibrary.org/obo/UBERON_0016399 +http://purl.obolibrary.org/obo/UBERON_0016400 http://purl.obolibrary.org/obo/UBERON_0016402 http://purl.obolibrary.org/obo/UBERON_0016405 http://purl.obolibrary.org/obo/UBERON_0016410 @@ -4350,6 +4389,7 @@ http://purl.obolibrary.org/obo/UBERON_0018111 http://purl.obolibrary.org/obo/UBERON_0018112 http://purl.obolibrary.org/obo/UBERON_0018115 http://purl.obolibrary.org/obo/UBERON_0018116 +http://purl.obolibrary.org/obo/UBERON_0018132 http://purl.obolibrary.org/obo/UBERON_0018135 http://purl.obolibrary.org/obo/UBERON_0018140 http://purl.obolibrary.org/obo/UBERON_0018142 @@ -4543,6 +4583,7 @@ http://purl.obolibrary.org/obo/UBERON_0035075 http://purl.obolibrary.org/obo/UBERON_0035078 http://purl.obolibrary.org/obo/UBERON_0035083 http://purl.obolibrary.org/obo/UBERON_0035091 +http://purl.obolibrary.org/obo/UBERON_0035096 http://purl.obolibrary.org/obo/UBERON_0035102 http://purl.obolibrary.org/obo/UBERON_0035109 http://purl.obolibrary.org/obo/UBERON_0035110 diff --git a/src/ontology/imports/uberon_import.obo b/src/ontology/imports/uberon_import.obo index aa2c1070a8..0621d7b829 100644 --- a/src/ontology/imports/uberon_import.obo +++ b/src/ontology/imports/uberon_import.obo @@ -1318,6 +1318,16 @@ synonym: "respiratory system organ" EXACT [] is_a: UBERON:0000062 ! organ relationship: BFO:0000050 UBERON:0001004 ! part of respiratory system +[Term] +id: UBERON:0000173 +name: amniotic fluid +def: "Amniotic fluid is a bodily fluid consisting of watery liquid surrounding and cushioning a growing fetus within the amnion. It allows the fetus to move freely without the walls of the uterus being too tight against its body. Buoyancy is also provided. The composition of the fluid changes over the course of gestation. Initially, amniotic fluid is similar to maternal plasma, mainly water with electrolytes. As the fetus develops, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid." [] +synonym: "acqua amnii" RELATED [] +synonym: "liquor amnii" RELATED [] +is_a: UBERON:0000463 ! organism substance +relationship: RO:0001025 UBERON:0000305 ! located_in amnion +relationship: RO:0002221 UBERON:0000922 ! surrounds embryo + [Term] id: UBERON:0000174 name: excreta @@ -1405,6 +1415,18 @@ synonym: "ligament organ" EXACT [] is_a: UBERON:0000062 ! organ relationship: BFO:0000051 UBERON:0002384 ! has part connective tissue +[Term] +id: UBERON:0000301 +name: amniotic cavity +def: "A closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds." [] +synonym: "cavitas amniotica" RELATED [] +is_a: UBERON:0012466 ! extraembryonic cavity +is_a: UBERON:0012467 ! enclosed anatomical space +relationship: RO:0001019 UBERON:0000173 ! contains amniotic fluid +relationship: RO:0002202 UBERON:0000087 ! develops_from inner cell mass +relationship: RO:0002202 UBERON:0009742 ! develops_from proamniotic cavity +relationship: RO:0002219 UBERON:0005971 ! surrounded_by amniotic fold + [Term] id: UBERON:0000304 name: tendon sheath @@ -1418,6 +1440,20 @@ relationship: BFO:0000051 UBERON:0011233 ! has part synovial membrane of synovia relationship: BFO:0000051 UBERON:0011234 ! has part fibrous membrane of synovial tendon sheath relationship: RO:0002007 UBERON:0000043 ! bounding layer of tendon +[Term] +id: UBERON:0000305 +name: amnion +def: "the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected" [] +synonym: "amnios" EXACT [] +is_a: UBERON:0004120 ! mesoderm-derived structure +is_a: UBERON:0005631 ! extraembryonic membrane +relationship: BFO:0000051 UBERON:0003254 ! has part amniotic ectoderm +relationship: BFO:0000051 UBERON:0003262 ! has part amniotic mesoderm +relationship: RO:0002202 UBERON:0005971 ! develops_from amniotic fold +relationship: RO:0002221 UBERON:0000922 ! surrounds embryo +relationship: RO:0002254 UBERON:0000924 ! has developmental contribution from ectoderm +relationship: RO:0002254 UBERON:0004871 ! has developmental contribution from somatic layer of lateral plate mesoderm + [Term] id: UBERON:0000307 name: blastula @@ -8291,6 +8327,21 @@ intersection_of: UBERON:0000029 ! lymph node intersection_of: BFO:0000050 UBERON:0008337 ! part of inguinal part of abdomen relationship: BFO:0000050 UBERON:0008337 ! part of inguinal part of abdomen +[Term] +id: UBERON:0001543 +name: popliteal lymph node +def: "the lymph nodes which drain the legs; contained in the popliteal fossa" [] +synonym: "popliteal glands" RELATED [] +synonym: "popliteal lymph glands" RELATED [] +synonym: "popliteal lymph node" RELATED [] +is_a: UBERON:0003968 ! peripheral lymph node +is_a: UBERON:0016398 ! lymph node of lower limb +intersection_of: UBERON:0000029 ! lymph node +intersection_of: BFO:0000050 UBERON:0001485 ! part of knee joint +intersection_of: RO:0001025 UBERON:0016400 ! located_in infrapatellar fat pad +relationship: BFO:0000050 UBERON:0001485 ! part of knee joint +relationship: RO:0001025 UBERON:0016400 ! located_in infrapatellar fat pad + [Term] id: UBERON:0001549 name: dorsal metatarsal vein @@ -16315,6 +16366,18 @@ intersection_of: RO:0002179 UBERON:0001255 ! drains urinary bladder relationship: RO:0002179 UBERON:0001255 ! drains urinary bladder relationship: RO:0002376 UBERON:0001317 ! tributary_of internal iliac vein +[Term] +id: UBERON:0002461 +name: anterior abdominal wall muscle +def: "Any skeletal muscle organ that is part of a anterior abdominal wall. Examples: the obliques, pyramidalis and transversus abdominus" [] +synonym: "muscle of anterior abdominal wall" EXACT [] +synonym: "ventral abdominal wall muscle" EXACT [] +is_a: UBERON:0002378 ! muscle of abdomen +intersection_of: UBERON:0014892 ! skeletal muscle organ +intersection_of: BFO:0000050 UBERON:0006635 ! part of anterior abdominal wall +relationship: BFO:0000050 UBERON:0006635 ! part of anterior abdominal wall +relationship: RO:0002202 UBERON:0006210 ! develops_from body-wall mesenchyme + [Term] id: UBERON:0002465 name: lymphoid system @@ -18492,6 +18555,19 @@ intersection_of: UBERON:0001560 ! neck of organ intersection_of: BFO:0000050 UBERON:0002228 ! part of rib relationship: BFO:0000050 UBERON:0010388 ! part of proximal segment of rib +[Term] +id: UBERON:0003254 +name: amniotic ectoderm +synonym: "amnion ectoderm" EXACT [] +synonym: "amnion epithelium" RELATED [] +synonym: "amnionic ectoderm" EXACT [] +is_a: UBERON:0000478 ! extraembryonic structure +is_a: UBERON:0000490 ! unilaminar epithelium +is_a: UBERON:0005292 ! extraembryonic tissue +is_a: UBERON:0012275 ! meso-epithelium +relationship: BFO:0000050 UBERON:0000305 ! part of amnion +relationship: RO:0002202 UBERON:0002532 ! develops_from epiblast (generic) + [Term] id: UBERON:0003257 name: yolk sac endoderm @@ -18552,6 +18628,24 @@ intersection_of: BFO:0000050 UBERON:0003091 ! part of thyroid primordium relationship: BFO:0000050 UBERON:0003091 ! part of thyroid primordium relationship: RO:0002202 UBERON:0007690 ! develops_from early pharyngeal endoderm +[Term] +id: UBERON:0003262 +name: amniotic mesoderm +def: "A mesenchyme that is part of a amnion." [] +synonym: "amnion mesenchyme" EXACT [] +synonym: "amnion mesoderm" EXACT [] +synonym: "amnionic mesenchyme" RELATED [] +synonym: "amnionic mesoderm" EXACT [] +synonym: "amnionic mesoderm" RELATED [] +synonym: "mesenchyme of amnion" EXACT [] +is_a: UBERON:0000478 ! extraembryonic structure +is_a: UBERON:0007524 ! dense mesenchyme tissue +is_a: UBERON:0010333 ! extraembryonic membrane mesenchyme +intersection_of: UBERON:0003104 ! mesenchyme +intersection_of: BFO:0000050 UBERON:0000305 ! part of amnion +relationship: BFO:0000050 UBERON:0000305 ! part of amnion +relationship: RO:0002202 UBERON:0005728 ! develops_from extraembryonic mesoderm + [Term] id: UBERON:0003265 name: chorionic mesenchyme @@ -20214,6 +20308,34 @@ is_a: UBERON:0003585 ! dermis connective tissue intersection_of: UBERON:0001013 ! adipose tissue intersection_of: BFO:0000050 UBERON:0002067 ! part of dermis +[Term] +id: UBERON:0003427 +name: abdominal fat pad +def: "The encapsulated adipose tissue in the abdomen." [] +synonym: "abdomen fat pad" EXACT [] +synonym: "abdominal fat depot" EXACT [] +synonym: "fat pad of abdomen" EXACT [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0007808 ! adipose tissue of abdominal region +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0000916 ! part of abdomen + +[Term] +id: UBERON:0003428 +name: gonadal fat pad +def: "The encapsulated adipose tissue associated with the ovaries or testes." [] +synonym: "fat pad of gonad" EXACT [] +synonym: "fat pad of gonads" EXACT [] +synonym: "gonad fat pad" EXACT [] +synonym: "gonad-associated fat pad" EXACT [] +synonym: "gonadal fat depot" EXACT [] +synonym: "gonadal fat pad" EXACT [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0005156 ! reproductive structure +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0000991 ! part of gonad +relationship: BFO:0000050 UBERON:0000991 ! part of gonad + [Term] id: UBERON:0003429 name: abdomen nerve @@ -24753,6 +24875,13 @@ def: "Any endothelium that has the quality of being cylindrical [Automatically g is_a: UBERON:0001986 ! endothelium is_a: UBERON:0003914 ! epithelial tube +[Term] +id: UBERON:0003916 +name: fat pad +def: "A mass of closely packed fat cells (adipose tissue) surrounded by fibrous tissue septa[TMD]." [] +synonym: "fat body" RELATED [] +is_a: UBERON:0001013 ! adipose tissue + [Term] id: UBERON:0003918 name: kidney mesenchyme @@ -39077,6 +39206,15 @@ intersection_of: UBERON:0001637 ! artery intersection_of: RO:0002176 UBERON:0001637 {minCardinality="2", maxCardinality="2"} ! connects artery relationship: RO:0002176 UBERON:0001637 ! connects artery +[Term] +id: UBERON:0006349 +name: epigastric artery +def: "An external iliac artery branch that supplies blood to the anterior abdominal wall." [] +is_a: UBERON:0001637 ! artery +intersection_of: UBERON:0001637 ! artery +intersection_of: RO:0002178 UBERON:0006635 ! supplies anterior abdominal wall +relationship: RO:0002178 UBERON:0006635 ! supplies anterior abdominal wall + [Term] id: UBERON:0006355 name: superior vesical vein @@ -39085,6 +39223,15 @@ intersection_of: UBERON:0001638 ! vein intersection_of: RO:0002179 UBERON:0000056 ! drains ureter relationship: RO:0002179 UBERON:0000056 ! drains ureter +[Term] +id: UBERON:0006356 +name: epigastric vein +def: "A vein that drains the anterior abdominal wall." [] +is_a: UBERON:0001638 ! vein +intersection_of: UBERON:0001638 ! vein +intersection_of: RO:0002179 UBERON:0006635 ! drains anterior abdominal wall +relationship: RO:0002179 UBERON:0006635 ! drains anterior abdominal wall + [Term] id: UBERON:0006435 name: os penis @@ -39586,6 +39733,14 @@ synonym: "processus coracoideus" RELATED [] is_a: UBERON:0005913 ! zone of bone organ relationship: BFO:0000050 UBERON:0006849 ! part of scapula +[Term] +id: UBERON:0006635 +name: anterior abdominal wall +def: "The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus)." [] +synonym: "ventral abdominal wall" EXACT [] +is_a: UBERON:0000475 ! organism subdivision +relationship: BFO:0000050 UBERON:0003697 ! part of abdominal wall + [Term] id: UBERON:0006642 name: muscle layer of oviduct @@ -39804,6 +39959,20 @@ relationship: BFO:0000050 UBERON:0001103 ! part of diaphragm relationship: RO:0002371 UBERON:0002359 ! attaches_to fibrous pericardium relationship: RO:0002495 UBERON:0006239 ! immediate transformation of future central tendon +[Term] +id: UBERON:0006671 +name: orbital fat pad +def: "A fat pad that is part of a orbital region." [] +synonym: "intraorbital fat pad" EXACT [] +synonym: "orbital fat" EXACT [] +synonym: "orbital fat body" EXACT [] +synonym: "retrobulbar fat" EXACT [] +is_a: UBERON:0003566 ! head connective tissue +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0004088 ! part of orbital region +relationship: BFO:0000050 UBERON:0035639 ! part of ocular adnexa + [Term] id: UBERON:0006675 name: venous valve @@ -43773,6 +43942,16 @@ synonym: "true apocrine gland" EXACT [] is_a: UBERON:0002365 ! exocrine gland disjoint_from: UBERON:0010243 ! merocrine gland +[Term] +id: UBERON:0008982 +name: fascia +def: "A dense regular connective tissue that that connects muscles together[WP, modified]." [] +synonym: "fascia cluster" EXACT [] +is_a: UBERON:0007846 ! dense regular connective tissue +relationship: BFO:0000050 UBERON:0002204 ! part of musculoskeletal system +relationship: RO:0002176 UBERON:0001630 ! connects muscle organ +relationship: RO:0002176 UBERON:0001630 {minCardinality="2", maxCardinality="2"} ! connects muscle organ + [Term] id: UBERON:0008987 name: renal parenchyma @@ -45394,6 +45573,13 @@ relationship: BFO:0000050 UBERON:0003929 ! part of digestive tract epithelium relationship: BFO:0000050 UBERON:0008814 ! part of pharyngeal arch system relationship: RO:0002202 UBERON:0000925 ! develops_from endoderm +[Term] +id: UBERON:0009742 +name: proamniotic cavity +def: "The cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds" [] +is_a: UBERON:0002553 ! anatomical cavity +relationship: BFO:0000050 UBERON:0000922 ! part of embryo + [Term] id: UBERON:0009744 name: lymph node medullary sinus @@ -47862,6 +48048,65 @@ is_a: UBERON:0004121 ! ectoderm-derived structure relationship: BFO:0000050 UBERON:0000019 ! part of camera-type eye relationship: BSPO:0000108 UBERON:0022288 ! superficial_to surface of eyeball +[Term] +id: UBERON:0010410 +name: inguinal fat pad +def: "encapsulated adipose tissue found in the groin" [] +synonym: "fat depot of inguinal region" EXACT [] +synonym: "inguinal fat depot" EXACT [] +is_a: UBERON:0003838 ! abdominal segment connective tissue +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0008337 ! part of inguinal part of abdomen +relationship: BFO:0000050 UBERON:0008337 ! part of inguinal part of abdomen + +[Term] +id: UBERON:0010411 +name: retroperitoneal fat pad +def: "encapsulated adipose tissue found on the dorsal side of the peritoneum" [] +synonym: "retroperitoneal fat depot" EXACT [] +is_a: UBERON:0003427 ! abdominal fat pad +is_a: UBERON:0004120 ! mesoderm-derived structure +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0002358 ! part of peritoneum +relationship: BFO:0000050 UBERON:0002358 ! part of peritoneum +relationship: RO:0001025 UBERON:0003693 ! located_in retroperitoneal space + +[Term] +id: UBERON:0010412 +name: epididymal fat pad +def: "encapsulated adipose tissue associated with the epididymis" [] +synonym: "periepididymal fat pad" EXACT [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0004120 ! mesoderm-derived structure +is_a: UBERON:0005156 ! reproductive structure +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0001301 ! part of epididymis +relationship: BFO:0000050 UBERON:0001301 ! part of epididymis + +[Term] +id: UBERON:0010413 +name: parametrial fat pad +def: "encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament" [] +synonym: "parametrial adipose tissue" RELATED [] +synonym: "parametrial fat" RELATED [] +synonym: "parametrial fat depot" EXACT [] +is_a: UBERON:0014394 ! uterine fat pad +is_a: UBERON:0015143 ! mesenteric fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0010391 ! part of parametrium +relationship: BFO:0000050 UBERON:0010391 ! part of parametrium + +[Term] +id: UBERON:0010414 +name: omental fat pad +def: "encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon" [] +synonym: "omental fat depot" EXACT [] +is_a: UBERON:0010411 ! retroperitoneal fat pad +intersection_of: UBERON:0003427 ! abdominal fat pad +intersection_of: BFO:0000050 UBERON:0003688 ! part of omentum +relationship: BFO:0000050 UBERON:0003688 ! part of omentum + [Term] id: UBERON:0010418 name: urethral opening @@ -51507,6 +51752,18 @@ intersection_of: BFO:0000050 UBERON:0002387 ! part of pes relationship: BFO:0000050 UBERON:0001445 ! part of skeleton of pes relationship: BFO:0000050 UBERON:0012142 ! part of pedal digitopodium region +[Term] +id: UBERON:0012167 +name: buccal fat pad +def: "The Buccal fat pad is one of several encapsulated fat masses in the cheek. It is a deep fat pad located on either side of the face between the buccinator muscle and several more superficial muscles. It should not be confused with the malar fat pad, which is directly below the skin of the cheek. It should also not be confused with jowl fat pads. It is implicated in the formation of hollow cheeks and the nasolabial fold, but not in the formation of jowls." [] +synonym: "Bichat's fat pad" EXACT [] +synonym: "cheek fat pad" EXACT [] +is_a: UBERON:0003566 ! head connective tissue +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0001567 ! part of cheek +relationship: BFO:0000050 UBERON:0001567 ! part of cheek + [Term] id: UBERON:0012168 name: umbilical cord blood @@ -51826,6 +52083,25 @@ intersection_of: BFO:0000050 UBERON:0011932 ! part of pilosebaceous unit intersection_of: BFO:0000050 UBERON:0012336 ! part of perianal skin relationship: BFO:0000050 UBERON:0012336 ! part of perianal skin +[Term] +id: UBERON:0012282 +name: mammary fat pad +def: "encapsulated adipose tissue associated with the mammary gland" [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0004180 ! mammary gland fat +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0001911 ! part of mammary gland + +[Term] +id: UBERON:0012283 +name: femoral fat pad +def: "encapsulated adipose tissue associated with the femur" [] +synonym: "femoral fat depot" EXACT [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0004266 ! upper leg connective tissue +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0000376 ! part of hindlimb stylopod + [Term] id: UBERON:0012287 name: Rathkes pouch epithelium @@ -52659,6 +52935,18 @@ intersection_of: UBERON:0000344 ! mucosa intersection_of: BFO:0000050 UBERON:0012652 ! part of colorectum relationship: BFO:0000050 UBERON:0012652 ! part of colorectum +[Term] +id: UBERON:0013069 +name: popliteal area +def: "A depression on the ventral side of the femur, at the knee joint, between the condyles." [] +synonym: "knee pit" RELATED [] +synonym: "popliteal fossa" EXACT [] +synonym: "popliteal region" RELATED [] +synonym: "popliteal space" RELATED [] +is_a: UBERON:0004120 ! mesoderm-derived structure +is_a: UBERON:0005055 ! zone of long bone +relationship: BFO:0000050 UBERON:0000981 ! part of femur + [Term] id: UBERON:0013118 name: sulcus of brain @@ -53088,6 +53376,27 @@ is_a: UBERON:0004702 ! respiratory system blood vessel endothelium intersection_of: UBERON:0004638 ! blood vessel endothelium intersection_of: BFO:0000050 UBERON:0002048 ! part of lung +[Term] +id: UBERON:0013491 +name: cervical fascia +def: "Any fascia tissue that is part of the neck region." [] +synonym: "fascia of neck" EXACT [] +is_a: UBERON:0003568 ! neck connective tissue +is_a: UBERON:0008982 ! fascia +intersection_of: UBERON:0008982 ! fascia +intersection_of: BFO:0000050 UBERON:0000974 ! part of neck + +[Term] +id: UBERON:0013493 +name: abdominal fascia +def: "A fascia that is part of a abdomen." [] +synonym: "endo-abdominopelvic fascia" EXACT [] +synonym: "fascia of abdomen" EXACT [] +is_a: UBERON:0003567 ! abdomen connective tissue +is_a: UBERON:0008982 ! fascia +intersection_of: UBERON:0008982 ! fascia +intersection_of: BFO:0000050 UBERON:0000916 ! part of abdomen + [Term] id: UBERON:0013498 name: vestibulo-cochlear VIII ganglion complex @@ -53497,6 +53806,60 @@ intersection_of: UBERON:0004111 ! anatomical conduit intersection_of: BFO:0000050 UBERON:0006268 ! part of notochordal process relationship: BFO:0000050 UBERON:0006268 ! part of notochordal process +[Term] +id: UBERON:0013705 +name: fascia of Scarpa +def: "The deep layer (fascia of Scarpa) is a layer of the anterior abdominal wall." [] +synonym: "Colles fascia" RELATED [] +synonym: "Colles' fascia" EXACT [] +synonym: "deep layer of superficial fascia of abdomen" EXACT [] +synonym: "fascia of Scarpa" RELATED [] +synonym: "membranous layer of subcutaneous tissue of abdomen" EXACT [] +synonym: "membranous layer of superficial fascia of abdomen" EXACT [] +synonym: "Scarpa's fascia" EXACT [] +synonym: "Scarpa's fascia" RELATED [] +synonym: "stratum membranosum telae subcutaneae abdominis" EXACT [] +is_a: UBERON:0003427 ! abdominal fat pad +is_a: UBERON:0003916 ! fat pad +relationship: BFO:0000050 UBERON:0006635 ! part of anterior abdominal wall + +[Term] +id: UBERON:0013718 +name: dartos muscle +def: "The dartos fascia is a fat-free layer of smooth muscular fiber outside the external spermatic fascia but below the skin. It is a continuation of Scarpa's Fascia which is a membranous layer of the subcutaneous tissue in the abdominal wall." [] +synonym: "dartos muscle" RELATED [] +synonym: "dartos tunic" RELATED [] +synonym: "tunica dartos" RELATED [] +is_a: UBERON:0008982 ! fascia +relationship: RO:0002150 UBERON:0013705 ! continuous_with fascia of Scarpa + +[Term] +id: UBERON:0013719 +name: dartos muscle of scrotum +def: "A dartos muscle that is part of a male reproductive system." [] +synonym: "dartos layer of scrotum" EXACT [] +synonym: "dartos tunic" RELATED [] +is_a: UBERON:0004120 ! mesoderm-derived structure +is_a: UBERON:0005156 ! reproductive structure +is_a: UBERON:0013718 ! dartos muscle +intersection_of: UBERON:0013718 ! dartos muscle +intersection_of: BFO:0000050 UBERON:0000079 ! part of male reproductive system +relationship: BFO:0000050 UBERON:0001300 ! part of scrotum + +[Term] +id: UBERON:0013720 +name: dartos muscle of labia majora +def: "A dartos muscle that is part of a female reproductive system." [] +synonym: "dartos layer of labia" EXACT [] +synonym: "dartos muliebris" RELATED [] +is_a: UBERON:0004120 ! mesoderm-derived structure +is_a: UBERON:0004121 ! ectoderm-derived structure +is_a: UBERON:0005156 ! reproductive structure +is_a: UBERON:0013718 ! dartos muscle +intersection_of: UBERON:0013718 ! dartos muscle +intersection_of: BFO:0000050 UBERON:0000474 ! part of female reproductive system +relationship: BFO:0000050 UBERON:0004085 ! part of labium majora + [Term] id: UBERON:0013727 name: notochordal fluid @@ -53909,6 +54272,19 @@ intersection_of: UBERON:0001089 ! sweat intersection_of: RO:0003001 UBERON:0018232 ! produced_by axillary sweat gland relationship: RO:0003001 UBERON:0018232 ! produced_by axillary sweat gland +[Term] +id: UBERON:0014394 +name: uterine fat pad +def: "Encapsulated adipose tissue associated with the uterus" [] +synonym: "peri-uterine fat pad" RELATED [] +synonym: "periuterine fat pad" RELATED [] +synonym: "uterine fat depot" EXACT [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0005156 ! reproductive structure +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0000995 ! part of uterus +relationship: BFO:0000050 UBERON:0000995 ! part of uterus + [Term] id: UBERON:0014395 name: proximal mesopodial bone @@ -54031,6 +54407,16 @@ intersection_of: UBERON:0001808 ! parasympathetic ganglion intersection_of: extends_fibers_into UBERON:0002008 ! cardiac nerve plexus relationship: extends_fibers_into UBERON:0002008 ! cardiac nerve plexus +[Term] +id: UBERON:0014464 +name: renal fat pad +def: "Encapsulated adipose tissue associated with the kidney" [] +synonym: "perirenal fat pad" RELATED [] +is_a: UBERON:0003427 ! abdominal fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0002113 ! part of kidney +relationship: BFO:0000050 UBERON:0002113 ! part of kidney + [Term] id: UBERON:0014466 name: subarachnoid fissure @@ -55638,6 +56024,31 @@ intersection_of: UBERON:0002384 ! connective tissue intersection_of: BFO:0000050 UBERON:0002367 ! part of prostate gland relationship: BFO:0000050 UBERON:0002367 ! part of prostate gland +[Term] +id: UBERON:0015142 +name: falciform fat +def: "A large fat pad that is located at the base of the abdominal wall, in the falciform ligament of the liver." [] +synonym: "falciform fat depot" RELATED [] +synonym: "falciform ligament fat pad" RELATED [] +is_a: UBERON:0000077 ! mixed endoderm/mesoderm-derived structure +is_a: UBERON:0003427 ! abdominal fat pad +is_a: UBERON:0005291 ! embryonic tissue +is_a: UBERON:0015143 ! mesenteric fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0001247 ! part of falciform ligament +relationship: BFO:0000050 UBERON:0001247 ! part of falciform ligament + +[Term] +id: UBERON:0015143 +name: mesenteric fat pad +def: "Encapsulated adipose tissue associated with the mesentery" [] +synonym: "mesenteric fat depot" EXACT [] +is_a: UBERON:0003916 ! fat pad +is_a: UBERON:0004120 ! mesoderm-derived structure +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0002095 ! part of mesentery +relationship: BFO:0000050 UBERON:0002095 ! part of mesentery + [Term] id: UBERON:0015144 name: autopod hair @@ -55940,6 +56351,25 @@ intersection_of: UBERON:0000029 ! lymph node intersection_of: BFO:0000050 UBERON:0002072 ! part of hypodermis relationship: BFO:0000050 UBERON:0002072 ! part of hypodermis +[Term] +id: UBERON:0015454 +name: pancreatic fat pad +def: "A fat pad that is part of a pancreas." [] +is_a: UBERON:0003586 ! trunk connective tissue +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0001264 ! part of pancreas +relationship: BFO:0000050 UBERON:0001264 ! part of pancreas + +[Term] +id: UBERON:0015458 +name: mediastinal fat pad +def: "A fat pad that is part of a mediastinum." [] +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: RO:0001025 UBERON:0003728 ! located_in mediastinum +relationship: RO:0001025 UBERON:0003728 ! located_in mediastinum + [Term] id: UBERON:0015474 name: axilla skin @@ -55963,6 +56393,15 @@ intersection_of: UBERON:0000014 ! zone of skin intersection_of: BFO:0000050 UBERON:0007827 ! part of external nose relationship: BFO:0000050 UBERON:0007827 ! part of external nose +[Term] +id: UBERON:0015477 +name: axillary fat pad +def: "A fat pad that is part of a axilla." [] +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0009472 ! part of axilla +relationship: BFO:0000050 UBERON:0009472 ! part of axilla + [Term] id: UBERON:0015479 name: scrotum skin @@ -56329,6 +56768,16 @@ intersection_of: UBERON:0000029 ! lymph node intersection_of: BFO:0000050 UBERON:0002102 ! part of forelimb relationship: BFO:0000050 UBERON:0002102 ! part of forelimb +[Term] +id: UBERON:0016400 +name: infrapatellar fat pad +def: "The infrapatellar fat pad, also known as Hoffa's fat pad, is a cylindrical piece of fat that is situated under and behind the patella bone within the knee." [] +is_a: UBERON:0003577 ! knee connective tissue +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0001465 ! part of knee +relationship: RO:0001025 UBERON:0013069 ! located_in popliteal area + [Term] id: UBERON:0016402 name: mesocolic lymph node @@ -57190,6 +57639,16 @@ intersection_of: UBERON:0001224 ! renal pelvis intersection_of: BFO:0000050 UBERON:0001222 ! part of right ureter relationship: BFO:0000050 UBERON:0001222 ! part of right ureter +[Term] +id: UBERON:0018132 +name: tail fat pad +def: "Encapsulated adipose tissue that is part of a tail." [] +synonym: "tail fat depot" EXACT [] +is_a: UBERON:0003599 ! tail connective tissue +is_a: UBERON:0003916 ! fat pad +intersection_of: UBERON:0003916 ! fat pad +intersection_of: BFO:0000050 UBERON:0007812 ! part of post-anal tail + [Term] id: UBERON:0018135 name: fibrocollagenous connective tissue @@ -59151,6 +59610,14 @@ intersection_of: UBERON:0003665 ! post-anal tail muscle intersection_of: RO:0002371 UBERON:0010742 ! attaches_to bone of pelvic complex relationship: RO:0002371 UBERON:0010742 ! attaches_to bone of pelvic complex +[Term] +id: UBERON:0035096 +name: fascia of tail +is_a: UBERON:0003599 ! tail connective tissue +is_a: UBERON:0008982 ! fascia +intersection_of: UBERON:0008982 ! fascia +intersection_of: BFO:0000050 UBERON:0007812 ! part of post-anal tail + [Term] id: UBERON:0035102 name: transverse process of caudal vertebra diff --git a/src/ontology/imports/uberon_import.owl b/src/ontology/imports/uberon_import.owl index 43fd01acb6..e974b3ad41 100644 --- a/src/ontology/imports/uberon_import.owl +++ b/src/ontology/imports/uberon_import.owl @@ -4309,6 +4309,30 @@ + + + + + + + + + + + + + + + + + Amniotic fluid is a bodily fluid consisting of watery liquid surrounding and cushioning a growing fetus within the amnion. It allows the fetus to move freely without the walls of the uterus being too tight against its body. Buoyancy is also provided. The composition of the fluid changes over the course of gestation. Initially, amniotic fluid is similar to maternal plasma, mainly water with electrolytes. As the fetus develops, proteins, carbohydrates, lipids, phospholipids originating from the lungs, fetal cells, and urea are deposited in the fluid. + acqua amnii + liquor amnii + amniotic fluid + + + + @@ -4492,6 +4516,42 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A closed space between the embryo and the amnion which contains the amniotic fluid and is formed by the fusion of the parts of the anterior and posterior amniotic folds. + cavitas amniotica + amniotic cavity + + + + @@ -4533,6 +4593,54 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + the thin innermost layer of the extraembryonic membranes that contains the amniotic fluid; the membrane forms a closed sac in which the embryo and later, the fetus, is suspended and protected + amnios + amnion + + + + @@ -20324,6 +20432,47 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + the lymph nodes which drain the legs; contained in the popliteal fossa + popliteal glands + popliteal lymph glands + popliteal lymph node + popliteal lymph node + + + + @@ -38857,6 +39006,41 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + Any skeletal muscle organ that is part of a anterior abdominal wall. Examples: the obliques, pyramidalis and transversus abdominus + muscle of anterior abdominal wall + ventral abdominal wall muscle + anterior abdominal wall muscle + + + + @@ -43819,6 +44003,33 @@ + + + + + + + + + + + + + + + + + + + + amnion ectoderm + amnionic ectoderm + amnion epithelium + amniotic ectoderm + + + + @@ -43971,6 +44182,47 @@ + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A mesenchyme that is part of a amnion. + amnion mesenchyme + amnion mesoderm + amnionic mesoderm + mesenchyme of amnion + amnionic mesenchyme + amnionic mesoderm + amniotic mesoderm + + + + @@ -47775,6 +48027,65 @@ + + + + + + + + + + + + + + + + + The encapsulated adipose tissue in the abdomen. + abdomen fat pad + abdominal fat depot + fat pad of abdomen + abdominal fat pad + + + + + + + + + + + + + + + + + + + + + + + + + + + The encapsulated adipose tissue associated with the ovaries or testes. + fat pad of gonad + fat pad of gonads + gonad fat pad + gonad-associated fat pad + gonadal fat depot + gonadal fat pad + gonadal fat pad + + + + @@ -57655,6 +57966,17 @@ + + + + + A mass of closely packed fat cells (adipose tissue) surrounded by fibrous tissue septa[TMD]. + fat body + fat pad + + + + @@ -91045,6 +91367,33 @@ + + + + + + + + + + + + + + + + + + + + + + An external iliac artery branch that supplies blood to the anterior abdominal wall. + epigastric artery + + + + @@ -91071,6 +91420,33 @@ + + + + + + + + + + + + + + + + + + + + + + A vein that drains the anterior abdominal wall. + epigastric vein + + + + @@ -92355,6 +92731,23 @@ + + + + + + + + + + + The abdominal wall represents the boundaries of the abdominal cavity. The abdominal wall is split into the posterior (back), lateral (sides) and anterior (front) walls. There is a common set of layers covering and forming all the walls: the deepest being the extraperitoneal fat, the parietal peritoneum, and a layer of fascia which has different names over where it covers (eg transversalis, psoas fascia). Superficial to these, but not present in the posterior wall are the three layers of muscle, the transversus abdominis (transverse abdominal muscle), the internal (obliquus internus) and the external oblique (obliquus externus). + ventral abdominal wall + anterior abdominal wall + + + + @@ -92834,6 +93227,38 @@ + + + + + + + + + + + + + + + + + + + + + + + A fat pad that is part of a orbital region. + intraorbital fat pad + orbital fat + orbital fat body + retrobulbar fat + orbital fat pad + + + + @@ -102820,6 +103245,45 @@ + + + + + + + + + + 2 + + + + + 2 + + + + + + + + + + + + + + + + + + A dense regular connective tissue that that connects muscles together[WP, modified]. + fascia cluster + fascia + + + + @@ -107131,6 +107595,22 @@ + + + + + + + + + + + The cavity of the developing embryo that is formed within the epiblast tissue prior to the closing of the proamniotic canal by the amniotic folds + proamniotic cavity + + + + @@ -113462,6 +113942,160 @@ + + + + + + + + + + + + + + + + + + + + + + + encapsulated adipose tissue found in the groin + fat depot of inguinal region + inguinal fat depot + inguinal fat pad + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + + encapsulated adipose tissue found on the dorsal side of the peritoneum + retroperitoneal fat depot + retroperitoneal fat pad + + + + + + + + + + + + + + + + + + + + + + + + + + + + encapsulated adipose tissue associated with the epididymis + periepididymal fat pad + epididymal fat pad + + + + + + + + + + + + + + + + + + + + + + + + + + + encapsulated adipose tissue associated with the extension of the subserous coat of the uterus laterally between the layers of the broad ligament + parametrial fat depot + parametrial adipose tissue + parametrial fat + parametrial fat pad + + + + + + + + + + + + + + + + + + + + + + + + + + encapsulated adipose tissue associated with the fold of peritoneal tissue that extends from the stomach to the posterior abdominal wall after associating with the transverse colon + omental fat depot + omental fat pad + + + + @@ -122702,6 +123336,36 @@ + + + + + + + + + + + + + + + + + + + + + + + The Buccal fat pad is one of several encapsulated fat masses in the cheek. It is a deep fat pad located on either side of the face between the buccinator muscle and several more superficial muscles. It should not be confused with the malar fat pad, which is directly below the skin of the cheek. It should also not be confused with jowl fat pads. It is implicated in the formation of hollow cheeks and the nasolabial fold, but not in the formation of jowls. + Bichat's fat pad + cheek fat pad + buccal fat pad + + + + @@ -123510,6 +124174,51 @@ + + + + + + + + + + + + + + + + + encapsulated adipose tissue associated with the mammary gland + mammary fat pad + + + + + + + + + + + + + + + + + + + + + encapsulated adipose tissue associated with the femur + femoral fat depot + femoral fat pad + + + + @@ -125578,6 +126287,27 @@ + + + + + + + + + + + + A depression on the ventral side of the femur, at the knee joint, between the condyles. + popliteal fossa + knee pit + popliteal region + popliteal space + popliteal area + + + + @@ -126650,6 +127380,53 @@ + + + + + + + + + + + + + + + + + Any fascia tissue that is part of the neck region. + fascia of neck + cervical fascia + + + + + + + + + + + + + + + + + + + + + A fascia that is part of a abdomen. + endo-abdominopelvic fascia + fascia of abdomen + abdominal fascia + + + + @@ -127704,6 +128481,114 @@ + + + + + + + + + + + + The deep layer (fascia of Scarpa) is a layer of the anterior abdominal wall. + Colles' fascia + Scarpa's fascia + deep layer of superficial fascia of abdomen + membranous layer of subcutaneous tissue of abdomen + membranous layer of superficial fascia of abdomen + stratum membranosum telae subcutaneae abdominis + Colles fascia + Scarpa's fascia + fascia of Scarpa + fascia of Scarpa + + + + + + + + + + + + + + + The dartos fascia is a fat-free layer of smooth muscular fiber outside the external spermatic fascia but below the skin. It is a continuation of Scarpa's Fascia which is a membranous layer of the subcutaneous tissue in the abdominal wall. + dartos muscle + dartos tunic + tunica dartos + dartos muscle + + + + + + + + + + + + + + + + + + + + + + + + + + + + A dartos muscle that is part of a male reproductive system. + dartos layer of scrotum + dartos tunic + dartos muscle of scrotum + + + + + + + + + + + + + + + + + + + + + + + + + + + + + A dartos muscle that is part of a female reproductive system. + dartos layer of labia + dartos muliebris + dartos muscle of labia majora + + + + @@ -128738,6 +129623,37 @@ + + + + + + + + + + + + + + + + + + + + + + + Encapsulated adipose tissue associated with the uterus + uterine fat depot + peri-uterine fat pad + periuterine fat pad + uterine fat pad + + + + @@ -129039,6 +129955,34 @@ + + + + + + + + + + + + + + + + + + + + + + Encapsulated adipose tissue associated with the kidney + perirenal fat pad + renal fat pad + + + + @@ -133100,6 +134044,67 @@ + + + + + + + + + + + + + + + + + + + + + + + + + A large fat pad that is located at the base of the abdominal wall, in the falciform ligament of the liver. + falciform fat depot + falciform ligament fat pad + falciform fat + + + + + + + + + + + + + + + + + + + + + + + + + + + Encapsulated adipose tissue associated with the mesentery + mesenteric fat depot + mesenteric fat pad + + + + @@ -133864,6 +134869,61 @@ + + + + + + + + + + + + + + + + + + + + + + + A fat pad that is part of a pancreas. + pancreatic fat pad + + + + + + + + + + + + + + + + + + + + + + + + + + A fat pad that is part of a mediastinum. + mediastinal fat pad + + + + @@ -133923,6 +134983,33 @@ + + + + + + + + + + + + + + + + + + + + + + A fat pad that is part of a axilla. + axillary fat pad + + + + @@ -134886,6 +135973,34 @@ + + + + + + + + + + + + + + + + + + + + + + + The infrapatellar fat pad, also known as Hoffa's fat pad, is a cylindrical piece of fat that is situated under and behind the patella bone within the knee. + infrapatellar fat pad + + + + @@ -137145,6 +138260,29 @@ + + + + + + + + + + + + + + + + + Encapsulated adipose tissue that is part of a tail. + tail fat depot + tail fat pad + + + + @@ -142491,6 +143629,27 @@ + + + + + + + + + + + + + + + + + fascia of tail + + + + diff --git a/src/ontology/mondo-edit.obo b/src/ontology/mondo-edit.obo index ee9cdf3c40..fec05f8d19 100644 --- a/src/ontology/mondo-edit.obo +++ b/src/ontology/mondo-edit.obo @@ -125,7 +125,7 @@ xref: SCTID:386584007 {source="DOID:10493", source="MONDO:kboom-pr-1.00/0.74/6.3 xref: SCTID:68588005 {source="DOID:10493"} xref: UMLS:C0001623 {source="NCIT:C26691"} xref: UMLS:C0405580 {source="DOID:10493", source="MONDO:equivalentTo"} -is_a: MONDO:0002816 {source="DOID:10493", source="MONDO:Inferred", source="linkedlife"} ! adrenal cortex disease +is_a: MONDO:0002816 {source="DOID:10493", source="MONDO:Inferred", source="linkedlifedata"} ! adrenal cortex disease relationship: disease_disrupts GO:0034651 ! cortisol biosynthetic process relationship: disease_has_location UBERON:0001235 ! adrenal cortex @@ -158,6 +158,7 @@ is_obsolete: true id: MONDO:0000009 name: inherited bleeding disorder, platelet-type synonym: "bleeding disorder, platelet-type" RELATED [OMIMPS:231200] +synonym: "blood platelet disease" RELATED [DOID:2218] synonym: "platelet disorder" BROAD [CSP2005:0446-1413, DOID:2218] synonym: "Thrombocytopathy" EXACT [DOID:2218, MTHICD9_2006:287.1] xref: DC:0000057 {source="MONDO:equivalentTo"} @@ -478,7 +479,7 @@ xref: Orphanet:631 {source="DOID:0060870", source="MONDO:equivalentTo"} xref: SCTID:2109003 {source="MONDO:kboom-pr-1.00/0.80/9.54", source="MONDO:equivalentTo"} xref: UMLS:C0013338 {source="ORDO:631/e", source="Orphanet:631", source="DOID:0060870", source="MONDO:relatedTo"} xref: UMLS:C0271561 {source="Orphanet:631"} -is_a: MONDO:0005152 {source="DOID:0060870", source="MONDO:Redundant", source="linkedlifedata"} ! hypopituitarism +is_a: MONDO:0005152 {source="DOID:0060870", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypopituitarism is_a: MONDO:0019824 {source="MONDO:Redundant", source="Orphanet:631"} ! non-acquired pituitary hormone deficiency [Term] @@ -502,7 +503,6 @@ is_obsolete: true id: MONDO:0000054 name: obsolete macular dystrophy (disease) is_obsolete: true -consider: MONDO:0019118 consider: MONDO:0020242 [Term] @@ -672,7 +672,7 @@ synonym: "ACPS" EXACT [https://en.wikipedia.org/wiki/Acrocephalosyndactylia] xref: DC:0000331 {source="MONDO:equivalentTo"} xref: SCTID:205260006 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0687154 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0019796 {source="https://en.wikipedia.org/wiki/Acrocephalosyndactylia"} ! acrocephalosyndactyly +is_a: MONDO:0019796 {source="https://en.wikipedia.org/wiki/Acrocephalosyndactylia", source="linkedlifedata"} ! acrocephalosyndactyly [Term] id: MONDO:0000079 @@ -704,7 +704,7 @@ xref: DC:0000354 {source="MONDO:equivalentTo"} xref: EFO:0004710 {source="MONDO:equivalentTo"} xref: MESH:D056887 {source="MONDO:ontobio", source="EFO:0004710", source="MONDO:equivalentTo"} xref: SCTID:237113009 {source="EFO:0004710", source="MONDO:equivalentTo"} -is_a: MONDO:0005039 {source="EFO:0004710"} ! reproductive system disease +is_a: MONDO:0005039 {source="EFO:0004710", source="linkedlifedata/inferred"} ! reproductive system disease [Term] id: MONDO:0000083 @@ -744,7 +744,7 @@ xref: NCIT:C116936 {source="MONDO:kboom-pr-1.00/0.86/15.87", source="MONDO:equiv xref: Orphanet:35981 {source="MONDO:equivalentTo"} xref: SCTID:4945003 {source="MONDO:equivalentTo"} xref: UMLS:C0266464 {source="Orphanet:35981", source="ORDO:35981/e", source="NCIT:C116936", source="MONDO:equivalentTo"} -is_a: MONDO:0002320 {source="NCIT:C116936"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="NCIT:C116936"} ! congenital nervous system disorder is_a: MONDO:0015572 {source="Orphanet:35981"} ! cerebral malformation due to abnormal neuronal migration is_a: MONDO:0015983 {source="Orphanet:35981"} ! rare genetic syndromic intellectual disability @@ -1101,7 +1101,7 @@ xref: OMIMPS:256850 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:128207002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1850386 {source="NCIT:C84728"} is_a: MONDO:0004183 {source="DC:0000525", source="MONDOLEX:0000128", source="linkedlifedata"} ! axonal neuropathy -is_a: MONDO:0005244 {source="MONDO:0000128/inferred", source="MONDO:Redundant", source="MONDOLEX:0000128/inferred", source="NCIT:C84728", source="linkedlifedata"} ! peripheral neuropathy +is_a: MONDO:0005244 {source="MONDO:0000128/inferred", source="MONDO:Redundant", source="MONDOLEX:0000128/inferred", source="NCIT:C84728", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy [Term] id: MONDO:0000129 @@ -1114,7 +1114,7 @@ xref: HP:0003150 {source="MONDO:otherHierarchy", source="ontobio"} xref: ICD9:270.8 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:28987007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0268594 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005066 {source="linkedlifedata"} ! metabolic disease +is_a: MONDO:0005066 {source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease [Term] id: MONDO:0000130 @@ -1152,7 +1152,7 @@ xref: OMIM:616911 {source="ORDO:2268/btnt", source="Orphanet:2268", source="MOND xref: OMIMPS:242860 {source="DC:0000544", source="DOID:0090007", source="MONDO:equivalentTo"} xref: Orphanet:2268 {source="DOID:0090007", source="MONDO:equivalentTo"} xref: UMLS:CN201349 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006025 {source="DOID:0090007"} ! autosomal recessive disease +is_a: MONDO:0006025 {source="DOID:0090007", source="Orphanet:2268"} ! autosomal recessive disease is_a: MONDO:0015707 {source="Orphanet:2268"} ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies [Term] @@ -1234,7 +1234,7 @@ xref: UMLS:C1850343 {source="Orphanet:1052", source="ORDO:1052/e", source="NCIT: xref: UMLS:C2931286 {source="Orphanet:1052"} is_a: MONDO:0015356 {source="MONDO:Redundant", source="MONDO:cjm", source="Orphanet:1052/inferred", source="linkedlifedata"} ! hereditary neoplastic syndrome is_a: MONDO:0015945 {source="Orphanet:1052"} ! polymalformative genetic syndrome with increased risk of developing cancer -is_a: MONDO:0019040 {source="MESH:C536987", source="Orphanet:1052", source="linkedlifedata"} ! chromosomal anomaly +is_a: MONDO:0019040 {source="MESH:C536987", source="Orphanet:1052", source="linkedlifedata", source="linkedlifedata/inferred"} ! chromosomal anomaly is_a: MONDO:0021058 {source="MONDO:Redundant", source="NCIT:C128192"} ! neoplastic syndrome [Term] @@ -1386,7 +1386,7 @@ xref: NCIT:C119752 {source="MONDO:otherHierarchy", source="EFO:1000648"} xref: OMIMPS:142700 {source="DC:0000618", source="MONDO:equivalentTo"} xref: SCTID:52781008 {source="MONDO:kboom-pr-0.65/0.29/0.06", source="MONDO:equivalentTo"} xref: UMLS:C1840555 {source="MONDO:equivalentTo"} -is_a: MONDO:0005497 {source="EFO:1000648"} ! bone development disease +is_a: MONDO:0005497 {source="EFO:1000648", source="linkedlifedata/inferred"} ! bone development disease relationship: disease_has_major_feature HP:0001384 ! Abnormality of the hip joint [Term] @@ -1397,7 +1397,7 @@ xref: DC:0000621 {source="MONDO:equivalentTo"} xref: MESH:C536572 {source="MONDO:equivalentTo"} xref: OMIMPS:614675 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: UMLS:C2931245 {source="MEDGEN:kboom-pr79-c91", source="MONDO:equivalentTo"} -is_a: MONDO:0003225 {source="DC:0000621"} ! bone marrow disease +is_a: MONDO:0003225 {source="DC:0000621", source="MESH:C536572/inferred"} ! bone marrow disease [Term] id: MONDO:0000160 @@ -1650,7 +1650,7 @@ xref: MESH:D014693 {source="EFO:0004287", source="MONDO:ontobio", source="MONDO: xref: NCIT:C50799 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:0004287", source="MONDO:equivalentTo"} xref: SCTID:71908006 {source="EFO:0004287", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0042510 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C50799", source="MONDO:equivalentTo"} -is_a: MONDO:0007263 {source="EFO:0004287", source="NCIT:C50799", source="linkedlifedata"} ! cardiac rhythm disease +is_a: MONDO:0007263 {source="EFO:0004287", source="NCIT:C50799", source="linkedlifedata", source="linkedlifedata/inferred"} ! cardiac rhythm disease [Term] id: MONDO:0000191 @@ -1668,21 +1668,33 @@ is_a: MONDO:0005336 {source="MONDO:cjm"} ! myopathy [Term] id: MONDO:0000193 name: cortisone reductase deficiency +def: "A disorder in which there is a failure to regenerate the active glucocorticoid cortisol from cortisone via 11beta-HSD1. The resulting lack of cortisol regeneration stimulates ACTH-mediated adrenal hyperandrogenism, with males manifesting in childhood with precocious pseudopuberty and females presenting in adolescence and early adulthood with hirsutism, oligoamenorrhea, and infertility." [PMID:21325058] subset: gard_rare {source="GARD:0009882"} +subset: ordo_malformation_syndrome {source="Orphanet:168588"} synonym: "11-alpha beta-hydroxysteroid dehydrogenase type I deficiency of" RELATED [GARD:0009882] +synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 1" EXACT [Orphanet:168588] synonym: "CORTRD" EXACT [DOID:0090139] synonym: "deficiency of (R)-20-hydroxysteroid dehydrogenase" EXACT [MONDO:cjm] -synonym: "deficiency of cortisone reductase" RELATED [MONDO:cjm] -synonym: "HSD 11b1 deficiency" RELATED [GARD:0009882] +synonym: "deficiency of cortisone reductase" EXACT [MONDO:cjm] +synonym: "HSD 11B1 deficiency" NARROW [GARD:0009882] +synonym: "hyperandrogenism due to cortisone reductase deficiency" EXACT [] xref: DC:0000697 {source="MONDO:equivalentTo"} xref: DOID:0090139 {source="MONDO:equivalentTo"} xref: GARD:0009882 {source="MONDO:equivalentTo"} +xref: ICD10:E25.8 {source="ORDO:168588/ntbt", source="ORDO:168588/attributed", source="Orphanet:168588"} xref: ICD9:277.6 {source="i2s", source="MONDO:relatedTo"} -xref: OMIM:604931 {source="GARD:0009882", source="MONDO:superClassOf"} +xref: OMIM:604931 {source="Orphanet:168588", source="GARD:0009882", source="ORDO:168588/btnt", source="MONDO:superClassOf"} +xref: OMIM:614662 {source="Orphanet:168588", source="ORDO:168588/btnt", source="MONDO:superClassOf"} xref: OMIMPS:604931 {source="DC:0000697", source="DOID:0090139", source="MONDO:equivalentTo"} +xref: Orphanet:168588 {source="MONDO:equivalentTo"} xref: SCTID:124138004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.61"} -xref: UMLS:C1291245 {source="GARD:0009882"} -is_a: MONDO:0005151 {source="DOID:0090139"} ! endocrine system disease +xref: UMLS:C1291245 {source="Orphanet:168588", source="GARD:0009882"} +xref: UMLS:CN200166 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} +is_a: MONDO:0005151 {source="DOID:0090139", source="Orphanet:168588/inferred"} ! endocrine system disease +is_a: MONDO:0015860 {source="MONDO:Redundant", source="Orphanet:168588"} ! anomaly of puberty or/and menstrual cycle +is_a: MONDO:0015898 {source="Orphanet:168588"} ! adrenogenital syndrome +is_a: MONDO:0016072 {source="MONDO:Entailed", source="Orphanet:168588"} ! anomaly of puberty or/and menstrual cycle of genetic origin +relationship: disease_disrupts GO:0003845 {source="MONDO:cjm", source="PMID:21325058"} ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9882/cortisone-reductase-deficiency xsd:anyURI {source="GARD:0009882"} [Term] @@ -1848,11 +1860,15 @@ is_a: MONDO:0003122 ! striatonigral degeneration [Term] id: MONDO:0000212 name: hypercalcemia, infantile +def: "A hypercalcemia disease that occurs between 28 days to one year of life.." [MONDO:design_pattern] +synonym: "hypercalcemia disease of infancy" EXACT [MONDO:design_pattern] synonym: "infantile hypercalcemia" EXACT [MONDO:cjm] +synonym: "infantile hypercalcemia disease" EXACT [MONDO:design_pattern] +synonym: "infantile onset hypercalcemia disease" EXACT [MONDO:design_pattern] xref: DC:0000724 {source="MONDO:equivalentTo"} xref: OMIMPS:143880 {source="DC:0000724", source="MONDO:equivalentTo"} xref: SCTID:276645004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.61"} -is_a: MONDO:0005066 {source="linkedlife/inferred"} ! metabolic disease +is_a: MONDO:0005066 {source="linkedlife/inferred", source="linkedlifedata/inferred"} ! metabolic disease intersection_of: MONDO:0001566 ! hypercalcemia disease intersection_of: has_modifier HP:0003593 ! Infantile onset @@ -1934,7 +1950,7 @@ xref: DOID:0050004 {source="MONDO:equivalentTo"} xref: SCTID:301990003 {source="DOID:0050004", source="MONDO:subClassOf"} xref: UMLS:C0153194 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:C0578661 {source="DOID:0050004", source="MONDO:subClassOf"} -is_a: MONDO:0001027 {source="DOID:0050004", source="MONDO:Entailed", source="MONDOLEX:0000222", source="linkedlife"} ! gonococcal seminal vesiculitis +is_a: MONDO:0001027 {source="DOID:0050004", source="MONDO:Entailed", source="MONDOLEX:0000222", source="linkedlifedata"} ! gonococcal seminal vesiculitis intersection_of: MONDO:0001027 ! gonococcal seminal vesiculitis intersection_of: has_modifier PATO:0000389 ! acute @@ -1968,7 +1984,7 @@ xref: GARD:0000072 {source="https://rarediseases.org/rare-diseases/human-monocyt xref: ICD9:082.41 {source="i2s", source="MONDO:equivalentTo"} xref: SCTID:359747000 {source="MONDO:equivalentTo"} xref: UMLS:C1282983 {source="MONDO:equivalentTo"} -is_a: MONDO:0016003 {source="DOID:0050026", source="MONDO:Entailed", source="linkedlife"} ! ehrlichiosis +is_a: MONDO:0016003 {source="DOID:0050026", source="MONDO:Entailed", source="linkedlifedata"} ! ehrlichiosis intersection_of: MONDO:0016003 ! ehrlichiosis intersection_of: realized_in_response_to_stimulus NCBITaxon:945 ! Ehrlichia chaffeensis relationship: disease_has_location CL:0000766 {source="MONDO:cjm"} ! myeloid leukocyte @@ -2112,7 +2128,7 @@ xref: ICD10:A26 {source="MONDO:equivalentTo"} xref: MESH:D004887 {source="DOID:0050061", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:400105005 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C1276801 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006751 {source="MESH:D004887"} ! Erysipelothrix infectious disease +is_a: MONDO:0006751 {source="MESH:D004887", source="linkedlifedata"} ! Erysipelothrix infectious disease is_a: MONDO:0006752 ! Erysipelothrix rhusiopathiae infectious disease relationship: excluded_subClassOf MONDO:0000314 {source="DOID:0050061"} ! primary bacterial infectious disease @@ -2139,11 +2155,12 @@ relationship: disease_has_feature HP:0002840 ! Lymphadenitis [Term] id: MONDO:0000239 -name: pulmonary adiaspiromycosis +name: adiaspiromycosis def: "Adiaspiromycosis is a rare fungal infection in the lung and is caused by inhalation of spores of the saprophytic soil fungus Chrysosporium parvum var crescens (previously known as Emmonsia crescens)." [https://doi.org/10.1016/j.rmedc.2011.04.004] -synonym: "adiaspiromycosis" RELATED [MONDO:cjm] -synonym: "adiaspirosis" RELATED [MONDO:cjm] -synonym: "haplosporangiosis" RELATED [MONDO:cjm] +synonym: "adiaspiromycosis" EXACT [MONDO:cjm] +synonym: "adiaspirosis" EXACT [MONDO:cjm] +synonym: "haplosporangiosis" EXACT [MONDO:cjm] +synonym: "pulmonary adiaspiromycosis" EXACT [MONDO:cjm] xref: DOID:0050072 {source="MONDO:equivalentTo"} xref: ICD9:117.9 {source="i2s", source="MONDO:relatedTo"} xref: MEDGEN:537148 {source="UMLS:C0259737"} @@ -2151,8 +2168,8 @@ xref: SCTID:23892008 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="UMLS:C025 xref: UMLS:C0259737 {source="MONDO:equivalentTo"} is_a: MONDO:0000308 {source="DOID:0050072"} ! primary systemic mycosis intersection_of: MONDO:0005550 ! infectious disease -intersection_of: disease_has_location UBERON:0002048 ! lung intersection_of: realized_in_response_to_stimulus NCBITaxon:41283 ! Chrysosporium parvum +relationship: disease_has_location UBERON:0002048 ! lung [Term] id: MONDO:0000240 @@ -2179,10 +2196,11 @@ xref: ICD9:269.3 {source="i2s", source="MONDO:relatedTo"} xref: MESH:C536166 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:46939000 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0268095 {source="GARD:0008761", source="MONDO:equivalentTo"} -is_a: MONDO:0004994 {source="MESH:C536166", source="linkedlifedata"} ! cardiomyopathy -is_a: MONDO:0006873 {source="DOID:0050083"} ! nutritional deficiency disease -relationship: disease_disrupts GO:0001887 ! selenium compound metabolic process -relationship: realized_in_response_to_stimulus NCBITaxon:12066 ! Coxsackievirus +is_a: MONDO:0004994 {source="MESH:C536166", source="linkedlifedata", source="linkedlifedata/inferred"} ! cardiomyopathy +is_a: MONDO:0006873 {source="DOID:0050083", source="linkedlifedata"} ! nutritional deficiency disease +intersection_of: MONDO:0006873 ! nutritional deficiency disease +intersection_of: disease_disrupts GO:0001887 ! selenium compound metabolic process +intersection_of: realized_in_response_to_stimulus NCBITaxon:12066 ! Coxsackievirus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8761/keshan-disease xsd:anyURI {source="GARD:0008761"} [Term] @@ -2194,7 +2212,7 @@ synonym: "dermatophytosis of beard" RELATED [DOID:0050096] xref: DOID:0050096 {source="MONDO:equivalentTo"} xref: SCTID:399329002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C2349994 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004678 {source="DOID:0050096", source="MONDO:Entailed", source="linkedlife", source="linkedlifedata"} ! dermatophytosis +is_a: MONDO:0004678 {source="DOID:0050096", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! dermatophytosis intersection_of: MONDO:0004678 ! dermatophytosis intersection_of: disease_has_location UBERON:0010167 ! beard relationship: realized_in_response_to_stimulus NCBITaxon:523103 ! Trichophyton mentagrophytes @@ -2205,14 +2223,14 @@ id: MONDO:0000243 name: ectothrix infectious disease def: "A dermatophyte infection of the hair that infects the hair surface." [https://en.wikipedia.org/wiki/Exothrix] xref: DOID:0050097 {source="MONDO:equivalentTo"} -is_a: MONDO:0004678 {source="https://en.wikipedia.org/wiki/Exothrix"} ! dermatophytosis +is_a: MONDO:0004678 {source="DOID:0050097/inferred", source="https://en.wikipedia.org/wiki/Exothrix"} ! dermatophytosis [Term] id: MONDO:0000244 name: endothrix infectious disease def: "A dermatophyte infection of the hair that nvade the hair shaft and internalize into the hair cell." [https://en.wikipedia.org/wiki/Endothrix] xref: DOID:0050105 {source="MONDO:equivalentTo"} -is_a: MONDO:0004678 {source="https://en.wikipedia.org/wiki/Endothrix"} ! dermatophytosis +is_a: MONDO:0004678 {source="DOID:0050105/inferred", source="https://en.wikipedia.org/wiki/Endothrix"} ! dermatophytosis relationship: disease_has_location UBERON:0002074 ! hair shaft [Term] @@ -2223,7 +2241,7 @@ xref: DOID:0050116 {source="MONDO:equivalentTo"} xref: ICD10:B35.5 {source="MONDO:equivalentTo"} xref: SCTID:240699006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0040255 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001461 {source="DOID:0050116", source="linkedlife", source="linkedlifedata"} ! tinea corporis +is_a: MONDO:0001461 {source="DOID:0050116", source="linkedlifedata", source="linkedlifedata/inferred"} ! tinea corporis intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:63419 ! Trichophyton concentricum @@ -2250,7 +2268,7 @@ xref: OMIM:614371 {source="DOID:0050125", source="MONDO:relatedTo"} xref: SCTID:409671005 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0376300 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0005358 {source="MONDO:cjm", source="linkedlifedata"} ! dengue hemorrhagic fever -is_a: MONDO:0005502 {source="DOID:0050125", source="MONDO:Redundant", source="linkedlifedata"} ! dengue disease +is_a: MONDO:0005502 {source="DOID:0050125", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! dengue disease relationship: disease_has_feature HP:0000978 ! Bruising susceptibility relationship: disease_has_feature HP:0002615 ! Hypotension @@ -2262,7 +2280,7 @@ xref: DOID:0050129 {source="MONDO:equivalentTo"} xref: HP:0005208 {source="MONDO:otherHierarchy"} xref: SCTID:15699003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0267557 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001673 {source="DOID:0050129", source="HP:0005208"} ! diarrheal disease +is_a: MONDO:0001673 {source="DOID:0050129", source="HP:0005208", source="linkedlifedata"} ! diarrheal disease [Term] id: MONDO:0000250 @@ -2274,7 +2292,8 @@ xref: DOID:0050130 {source="MONDO:equivalentTo"} xref: MEDGEN:540779 {source="UMLS:C0267556"} xref: SCTID:2946003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="UMLS:C0267556", source="MONDO:equivalentTo"} xref: UMLS:C0267556 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001673 {source="DOID:0050130"} ! diarrheal disease +is_a: MONDO:0001673 {source="DOID:0050130", source="linkedlifedata/inferred"} ! diarrheal disease +is_a: MONDO:0045030 {source="linkedlifedata"} ! non-infectious diarrheal disease relationship: disease_has_feature HP:0004789 ! Lactose intolerance relationship: disease_has_feature OBA:1001084 @@ -2316,11 +2335,12 @@ synonym: "White Piedras" NARROW [MESH:D010854] xref: MESH:D010854 {source="MONDO:equivalentTo"} xref: SCTID:402135006 {source="MONDO:equivalentTo"} xref: UMLS:C0031898 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002041 {source="MESH:D010854", source="MONDO:Redundant", source="linkedlifedata"} ! fungal infectious disease +is_a: MONDO:0002041 {source="MESH:D010854", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! fungal infectious disease is_a: MONDO:0002917 {source="MESH:D010854", source="MONDO:Entailed"} ! disease of pilosebaceous unit -is_a: MONDO:0024268 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902", source="linkedlifedata"} ! superficial mycosis +is_a: MONDO:0024268 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902", source="linkedlifedata", source="linkedlifedata/inferred"} ! superficial mycosis intersection_of: MONDO:0002041 ! fungal infectious disease intersection_of: disease_has_location UBERON:0002074 ! hair shaft +relationship: disease_has_location UBERON:0002027 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! stratum corneum of epidermis [Term] id: MONDO:0000254 @@ -2330,18 +2350,18 @@ xref: DOID:0050134 {source="MONDO:equivalentTo"} is_a: MONDO:0002041 {source="DOID:0050134", source="MONDO:Entailed", source="MONDOLEX:0000254"} ! fungal infectious disease intersection_of: MONDO:0002041 ! fungal infectious disease intersection_of: disease_has_location UBERON:0002416 ! integumental system -relationship: realized_in_response_to_stimulus NCBITaxon:4751 ! Fungi +relationship: has_modifier MONDO:0045042 ! localized [Term] id: MONDO:0000255 name: subcutaneous mycosis -def: "A fungal infectious disease that involves the hypodermis." [MONDO:patterns/location] +def: "A mycosis that involves subcutaneous tissue. There are three general types of subcutaneous mycoses: chromoblastomycosis, mycetoma, and sporotrichosis." [https://www.ncbi.nlm.nih.gov/books/NBK7902] synonym: "subcutaneous mycosis" EXACT [] xref: DOID:0050135 {source="MONDO:equivalentTo"} is_a: MONDO:0002041 {source="DOID:0050135", source="MONDO:0000255/inferred", source="MONDO:Redundant", source="MONDOLEX:0000255/inferred"} ! fungal infectious disease intersection_of: MONDO:0002041 ! fungal infectious disease intersection_of: disease_has_location UBERON:0002072 ! hypodermis -relationship: realized_in_response_to_stimulus NCBITaxon:4751 ! Fungi +relationship: has_modifier MONDO:0045042 ! localized [Term] id: MONDO:0000256 @@ -2353,17 +2373,21 @@ xref: ICD9:117.9 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:399314004 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0553576 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002041 {source="DOID:0050136", source="MONDOLEX:0000256", source="linkedlifedata"} ! fungal infectious disease +intersection_of: MONDO:0002041 ! fungal infectious disease +intersection_of: has_modifier MONDO:0022202 ! disseminated [Term] id: MONDO:0000257 name: acute diarrhea def: "Acute form of diarrhea." [MONDO:patterns/acute] +synonym: "acute diarrheal disease" EXACT [MONDO:design_pattern] synonym: "diarrhea (disease), acute" EXACT [MONDO:patterns/acute] synonym: "diarrhea, acute" EXACT [MONDO:patterns/acute] +synonym: "diarrheal disease, acute" EXACT [MONDO:design_pattern] xref: DOID:0050140 {source="MONDO:equivalentTo"} xref: SCTID:409966000 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0740441 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001673 {source="DOID:0050140", source="MONDO:Entailed"} ! diarrheal disease +is_a: MONDO:0001673 {source="DOID:0050140", source="MONDO:Entailed", source="linkedlifedata"} ! diarrheal disease intersection_of: MONDO:0001673 ! diarrheal disease intersection_of: has_modifier PATO:0000389 ! acute @@ -2375,12 +2399,9 @@ replaced_by: MONDO:0015805 [Term] id: MONDO:0000259 -name: asymptomatic dengue -def: "A dengue disease that results_in infection, has_material_basis_in Dengue virus [NCBITaxon:12637] with four serotypes (Dengue virus 1, 2, 3 and 4), which are transmitted_by Aedes mosquito bite. The infection has no manifestations of symptoms." [DOID:0050143, http://www3.interscience.wiley.com/journal/120121377/abstract?CRETRY=1&SRETRY=0] -xref: DOID:0050143 {source="MONDO:equivalentTo"} -is_a: MONDO:0005502 {source="DOID:0050143"} ! dengue disease -relationship: realized_in_response_to_stimulus NCBITaxon:11053 ! Dengue virus 1 -relationship: realized_in_response_to_stimulus NCBITaxon:12637 ! Dengue virus +name: obsolete asymptomatic dengue +xref: DOID:0050143 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true [Term] id: MONDO:0000260 @@ -2419,9 +2440,9 @@ xref: ICD9:111.8 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D059249 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:53316003 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0029895 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002041 {source="MESH:D059249", source="MONDO:Redundant", source="linkedlifedata"} ! fungal infectious disease -is_a: MONDO:0004795 {source="DOID:0050147", source="linkedlifedata"} ! otitis externa -is_a: MONDO:0005093 {source="DOID:0050147", source="MONDO:Redundant", source="linkedlifedata"} ! skin disease +is_a: MONDO:0002041 {source="MESH:D059249", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! fungal infectious disease +is_a: MONDO:0004795 {source="DOID:0050147", source="linkedlifedata", source="linkedlifedata/inferred"} ! otitis externa +is_a: MONDO:0005093 {source="DOID:0050147", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease intersection_of: MONDO:0002041 ! fungal infectious disease intersection_of: disease_has_location UBERON:0001691 ! external ear relationship: disease_has_feature HP:0000989 ! Pruritus @@ -2487,7 +2508,7 @@ xref: SCTID:422588002 {source="DOID:0050152", source="MONDO:kboom-pr-0.89/0.76/0 xref: SCTID:47839005 {source="DOID:0050152"} xref: UMLS:C0032290 {source="MEDGEN:kboom-pr96-c96", source="DOID:0050152", source="MONDO:equivalentTo"} xref: UMLS:C0085740 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} -is_a: MONDO:0005249 {source="MESH:D011015", source="linkedlifedata"} ! pneumonia +is_a: MONDO:0005249 {source="DOID:0050152/inferred", source="MESH:D011015", source="linkedlifedata"} ! pneumonia [Term] id: MONDO:0000266 @@ -2525,6 +2546,7 @@ synonym: "disease of lower respiratory tract" EXACT [MONDO:patterns/location_top synonym: "disorder of lower respiratory system" EXACT [] synonym: "disorder of lower respiratory tract" RELATED [MONDO:patterns/location_top] synonym: "lower respiratory tract disease" EXACT [MONDO:patterns/location] +synonym: "lower respiratory tract disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:0050161 {source="MONDO:equivalentTo"} xref: ICD9:478.1 {source="DOID:0050161"} xref: ICD9:478.19 {source="DOID:0050161"} @@ -2533,7 +2555,7 @@ xref: SCTID:195823002 {source="DOID:0050161"} xref: SCTID:266346007 {source="DOID:0050161"} xref: UMLS:C0029581 {source="DOID:0050161"} xref: UMLS:C1290325 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005087 {source="DOID:0050161", source="MONDO:Entailed", source="linkedlife"} ! respiratory system disease +is_a: MONDO:0005087 {source="DOID:0050161", source="MONDO:Entailed", source="linkedlifedata"} ! respiratory system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001558 ! lower respiratory tract @@ -2551,8 +2573,8 @@ xref: SCTID:186243007 {source="DOID:0050166"} xref: SCTID:49558004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0152828 {source="DOID:0050166"} xref: UMLS:C0275933 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003619 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! salpingitis -is_a: MONDO:0006002 {source="DOID:0050166", source="MONDO:Entailed", source="linkedlifedata"} ! urogenital tuberculosis +is_a: MONDO:0003619 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! salpingitis +is_a: MONDO:0006002 {source="DOID:0050166", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! urogenital tuberculosis intersection_of: MONDO:0018076 ! tuberculosis intersection_of: disease_has_inflammation_site UBERON:0003889 ! fallopian tube @@ -2564,13 +2586,14 @@ replaced_by: MONDO:0010012 [Term] id: MONDO:0000273 -name: Kunjin encephalitis -def: "A West Nile encephalitis that results_in infection located_in brain, has_material_basis_in Kunjin virus, a subtype of West Nile Virus, which is transmitted_by Culex annulirostris mosquito bite. The infection has_symptom fever, has_symptom rigor, has_symptom headache, has_symptom confusion, and has_symptom lethargy." [DOID:0050174, http://www.health.gov.au/internet/main/publishing.nsf/Content/health-arbovirus-pdf-fskunjin.htm, http://www.ncbi.nlm.nih.gov/sites/entrez/2552010] +name: Kunjin virus infectous disease +synonym: "Kunjin encephalitis" EXACT [DOID:0050174] xref: DOID:0050174 {source="MONDO:equivalentTo"} is_a: MONDO:0019376 {source="DOID:0050174"} ! West-Nile encephalitis +intersection_of: MONDO:0005550 ! infectious disease +intersection_of: realized_in_response_to_stimulus NCBITaxon:11077 ! Kunjin virus relationship: disease_has_feature HP:0001254 ! Lethargy relationship: disease_has_feature HP:0001289 ! Confusion -relationship: realized_in_response_to_stimulus NCBITaxon:11077 ! Kunjin virus relationship: transmitted_by NCBITaxon:162997 ! Culex annulirostris [Term] @@ -2583,6 +2606,7 @@ replaced_by: MONDO:0017572 id: MONDO:0000275 name: monogenic disease def: "A genetic disease that is the result of one or more abnormal alleles and may be dominant (a single copy of the abnormal allele is sufficient to give rise to the disease), semi-dominant, or recessive (requiring both copies of the gene to have an abnormal allele)." [DO:wk\,ls, DOID:0050177] +comment: Editor notes: consider obsoleting xref: DOID:0050177 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="DOID:0050177"} ! inherited genetic disease @@ -2648,25 +2672,28 @@ relationship: transmitted_by NCBITaxon:42408 ! Neotoma albigula [Term] id: MONDO:0000283 -name: Korean hemorrhagic fever -def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Hantaan virus, which is transmitted_by the eurasian field mouse, Apodemus agrarius, or has_material_basis_in Seoul virus, which is transmitted_by norwegian rat, Rattus norvegicus. The infection has_symptom headache, has_symptom back pain, has_symptom abdominal pain, has_symptom fever, has_symptom chills, has_symptom nausea, has_symptom blurred vision, has_symptom flushing of the face, has_symptom redness of the eyes, has_symptom rash, has_symptom low blood pressure, has_symptom acute shock, has_symptom vascular leakage, and has_symptom acute kidney failure, which can cause severe fluid overload." [DOID:0050200, http://books.google.com/books?id=VS5bqBQ9RWoC&pg=PR65&lpg=PR65&dq#v=onepage&q&f=false, http://www.cdc.gov/mmwr/preview/mmwrhtml/00051521.htm, PMID:1349231] +name: Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type +synonym: "Korean hemorrhagic fever" RELATED [DOID:0050200] xref: DOID:0050200 {source="MONDO:equivalentTo"} is_a: MONDO:0005784 {source="DOID:0050200"} ! hantavirus hemorrhagic fever with renal syndrome +intersection_of: MONDO:0005784 ! hantavirus hemorrhagic fever with renal syndrome +intersection_of: realized_in_response_to_stimulus NCBITaxon:11608 relationship: disease_has_feature HP:0000622 ! Blurred vision relationship: disease_has_feature HP:0002615 ! Hypotension relationship: disease_has_feature HP:0003418 ! Back pain -relationship: realized_in_response_to_stimulus NCBITaxon:11599 -relationship: realized_in_response_to_stimulus NCBITaxon:11608 relationship: transmitted_by NCBITaxon:10116 ! Rattus norvegicus relationship: transmitted_by NCBITaxon:39030 ! Apodemus agrarius [Term] id: MONDO:0000284 -name: nephropathia epidemica -def: "A hemorrhagic fever with renal syndrome that results_in infection located_in kidney, has_material_basis_in Puumala virus, which is transmitted_by bank vole, Myodes glareolus [NCBITaxon:447135]. The infection has_symptom headache, has_symptom nausea, has_symptom back pain, has_symptom vomiting, has_symptom myalgia, has_symptom abdominal pain, has_symptom internal hemorrhage, and has_symptom renal failure." [DOID:0050201, PMID:1349231, PMID:2574903, PMID:2902106] +name: Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type +synonym: "nephropathia epidemica" RELATED [DOID:0050201] +synonym: "nephropathis epidemica" EXACT [https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome] xref: DOID:0050201 {source="MONDO:equivalentTo"} xref: UMLS:C0242993 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0005784 {source="DOID:0050201"} ! hantavirus hemorrhagic fever with renal syndrome +intersection_of: MONDO:0005784 ! hantavirus hemorrhagic fever with renal syndrome +intersection_of: realized_in_response_to_stimulus NCBITaxon:11604 relationship: disease_has_feature HP:0000083 ! Renal insufficiency relationship: disease_has_feature HP:0003418 ! Back pain relationship: disease_has_feature HP:0011029 ! Internal hemorrhage @@ -2702,10 +2729,12 @@ replaced_by: MONDO:0018556 [Term] id: MONDO:0000288 name: polycystic echinococcosis -synonym: "human polycystic hydatid disease" EXACT [DOID:0050218] -synonym: "Neotropical echinococcosis" EXACT [DOID:0050218] +synonym: "human polycystic hydatid disease" EXACT [DOID:0050218, https://en.wikipedia.org/wiki/Echinococcosis] +synonym: "neotropical echinococcosis" EXACT [DOID:0050218, https://en.wikipedia.org/wiki/Echinococcosis] xref: DOID:0050218 {source="MONDO:equivalentTo"} is_a: MONDO:0005738 {source="DOID:0050218"} ! echinococcosis +intersection_of: MONDO:0005738 ! echinococcosis +intersection_of: realized_in_response_to_stimulus NCBITaxon:6213 ! Echinococcus vogeli relationship: disease_has_location UBERON:0002107 ! liver [Term] @@ -2748,7 +2777,7 @@ xref: ICD9:323.2 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:230187000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0338428 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002428 {source="DOID:0050246"} ! protozoa infectious disease -is_a: MONDO:0019956 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! encephalitis +is_a: MONDO:0019956 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata", source="linkedlifedata/inferred"} ! encephalitis relationship: realized_in_response_to_stimulus NCBITaxon:5754 {source="GARD:0012651"} ! Acanthamoeba property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12651/granulomatous-amebic-encephalitis xsd:anyURI {source="GARD:0012651"} @@ -2774,24 +2803,36 @@ synonym: "sturdy" RELATED [https://en.wikipedia.org/wiki/Coenurosis] xref: DOID:0050251 {source="MONDO:equivalentTo"} xref: ICD9:123.8 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:24360007 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} -is_a: MONDO:0004664 {source="DOID:0050251", source="MONDO:Redundant", source="linkedlife/inferred"} ! helminthiasis -is_a: MONDO:0005135 {source="MONDO:Redundant", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0004664 {source="DOID:0050251", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! helminthiasis +is_a: MONDO:0005135 {source="DOID:0050251/inferred", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection relationship: realized_in_response_to_stimulus NCBITaxon:6202 ! Taenia [Term] id: MONDO:0000294 name: mesocestoidiasis +synonym: "infection by Mesocestoides" EXACT [] +synonym: "infection caused by Mesocestoides" RELATED [] +synonym: "Mesocestoides infectious disease" EXACT [] xref: DOID:0050253 {source="MONDO:equivalentTo"} -is_a: MONDO:0004664 {source="DOID:0050253"} ! helminthiasis +xref: SCTID:85750001 {source="MONDO:equivalentTo"} +is_a: MONDO:0004664 {source="DOID:0050253", source="linkedlifedata/inferred"} ! helminthiasis intersection_of: MONDO:0000001 ! disease or disorder -intersection_of: realized_in_response_to_stimulus NCBITaxon:160008 ! Mesocestoides lineatus +intersection_of: realized_in_response_to_stimulus NCBITaxon:53467 ! Mesocestoides [Term] id: MONDO:0000295 name: acanthocephaliasis -def: "A parasitic helminthiasis infectious disease that involves infection of the intestine caused by thorny-headed worms Macracanthorhynchus or Moniliformis moniliformis. The infection has_symptom abdominal pain, has_symptom distension, has_symptom fever, has_symptom decreased appetite, has_symptom nausea, has_symptom vomiting, has_symptom weight loss, has_symptom diarrhea, and has_symptom constipation or has_symptom bloody stools." [DOID:0050254, http://www.dpd.cdc.gov/dpdx/HTML/Acanthocephaliasis.htm] +synonym: "acanthocephala infectious disease" EXACT [] +synonym: "disease caused by acanthocephala" EXACT [] +synonym: "disease due to acanthocephala" EXACT [] +synonym: "infection by acanthocephala" EXACT [] +synonym: "infection by thorny-headed worm" EXACT [] xref: DOID:0050254 {source="MONDO:equivalentTo"} +xref: SCTID:105713003 {source="MONDO:equivalentTo"} is_a: MONDO:0004664 {source="DOID:0050254"} ! helminthiasis +is_a: MONDO:0005135 {source="DOID:0050254/inferred", source="linkedlifedata"} ! parasitic infection +intersection_of: MONDO:0000001 ! disease or disorder +intersection_of: realized_in_response_to_stimulus NCBITaxon:10232 ! Acanthocephala [Term] id: MONDO:0000296 @@ -2807,7 +2848,7 @@ synonym: "raccoon roundworm infection" EXACT [NCIT:C128397] xref: DOID:0050259 {source="MONDO:equivalentTo"} xref: NCIT:C128397 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} is_a: MONDO:0004664 {source="DOID:0050259"} ! helminthiasis -is_a: MONDO:0005135 {source="MONDO:Redundant", source="NCIT:C128397"} ! parasitic infection +is_a: MONDO:0005135 {source="DOID:0050259/inferred", source="MONDO:Redundant", source="NCIT:C128397"} ! parasitic infection intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:6259 ! Baylisascaris procyonis relationship: disease_has_feature HP:0000618 ! Blindness @@ -2816,8 +2857,13 @@ relationship: disease_has_feature HP:0000618 ! Blindness id: MONDO:0000298 name: dioctophymiasis def: "A disease caused by infection with Dioctophyme renale." [MONDO:patterns/infectious_disease_by_agent] +synonym: "dioctophyma renale infection" RELATED [] +synonym: "dioctophyme renale infection" EXACT [] +synonym: "dioctophymosis" RELATED [] +synonym: "giant kidney worm disease" RELATED [] xref: DOID:0050260 {source="MONDO:equivalentTo"} -is_a: MONDO:0004664 {source="DOID:0050260"} ! helminthiasis +xref: SCTID:40410004 {source="MONDO:equivalentTo"} +is_a: MONDO:0004664 {source="DOID:0050260", source="linkedlifedata/inferred"} ! helminthiasis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:513045 ! Dioctophyme renale @@ -2835,7 +2881,7 @@ xref: DOID:0050261 {source="MONDO:equivalentTo"} xref: ICD9:128.8 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:46477004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.55"} xref: UMLS:C0344058 {source="MONDO:equivalentTo"} -is_a: MONDO:0004664 {source="DOID:0050261", source="linkedlifedata"} ! helminthiasis +is_a: MONDO:0004664 {source="DOID:0050261", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:103826 ! Thelazia @@ -2869,17 +2915,18 @@ xref: DOID:0050278 {source="MONDO:equivalentTo"} xref: MEDGEN:575966 {source="UMLS:C0343965"} xref: SCTID:4921002 {source="UMLS:C0343965", source="MONDO:kboom-pr-1.00/0.74/6.08", source="MONDO:equivalentTo"} xref: UMLS:C0343965 {source="MONDO:equivalentTo"} -is_a: MONDO:0000255 {source="DOID:0050278"} ! subcutaneous mycosis -is_a: MONDO:0005093 {source="DOID:0050278", source="MONDO:Redundant"} ! skin disease -is_a: MONDO:0019136 {source="linkedlife"} ! zygomycosis +is_a: MONDO:0019136 {source="https://en.wikipedia.org/wiki/Basidiobolomycosis", source="linkedlifedata"} ! Zygomycosis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:4859 ! Basidiobolus -relationship: disease_has_feature HP:0001482 ! Subcutaneous nodule +relationship: excluded_subClassOf MONDO:0000255 {source="DOID:0050278"} ! subcutaneous mycosis +relationship: excluded_subClassOf MONDO:0005093 {source="DOID:0050278"} ! skin disease [Term] id: MONDO:0000303 name: conidiobolomycosis -def: "An subcutaneous mycosis that is a chronic inflammatory or granulomatous fungal infection caused by Conidiobolus species, which is restricted to the nasal submucosa and characterized by polyps or palpable restricted subcutaneous masses. Symptoms include nasal obstruction, drainage and sinus pain. Subcutaneous nodules develop in the nasal and perinasal regions." [DOID:0050279, http://mycology.adelaide.edu.au/Mycoses/Subcutaneous/Zygomycosis/] +synonym: "Conidiobolus infectious disease" EXACT [] +synonym: "infection by Conidiobolus" EXACT [] +synonym: "rhinoentomophthoromycosis" RELATED [] xref: DOID:0050279 {source="MONDO:equivalentTo"} xref: ICD9:111.8 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:240783007 {source="MONDO:kboom-pr-1.00/0.74/6.08", source="MONDO:equivalentTo"} @@ -2895,6 +2942,8 @@ id: MONDO:0000304 name: penicilliosis def: "A disease caused by infection with Talaromyces marneffei." [MONDO:patterns/infectious_disease_by_agent] xref: DOID:0050288 {source="MONDO:equivalentTo"} +xref: SCTID:713315007 {source="MONDO:equivalentTo"} +is_a: MONDO:0000256 {source="DOID:0050288/inferred", source="linkedlifedata"} ! systemic mycosis is_a: MONDO:0002312 {source="DOID:0050288"} ! opportunistic mycosis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:37727 ! Talaromyces marneffei @@ -2916,6 +2965,7 @@ def: "Fungal infections caused by trichosporon that may become systemic especial xref: DOID:0050290 {source="MONDO:equivalentTo"} xref: MESH:D060586 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:240761008 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} +is_a: MONDO:0000256 {source="DOID:0050290/inferred", source="linkedlifedata"} ! systemic mycosis is_a: MONDO:0002312 {source="DOID:0050290"} ! opportunistic mycosis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:5552 ! Trichosporon @@ -2935,6 +2985,9 @@ name: primary systemic mycosis def: "A systemic mycosis that arises from infection in an immunologically normal host." [https://www.ncbi.nlm.nih.gov/books/NBK7902] xref: DOID:0050292 {source="MONDO:equivalentTo"} is_a: MONDO:0000256 {source="DOID:0050292", source="MONDOLEX:0000308"} ! systemic mycosis +intersection_of: MONDO:0000256 ! systemic mycosis +intersection_of: has_modifier MONDO:0045036 ! primary infectious +disjoint_from: MONDO:0002312 ! opportunistic mycosis relationship: realized_in_response_to_stimulus NCBITaxon:4751 ! Fungi [Term] @@ -2991,24 +3044,27 @@ intersection_of: disease_has_feature HP:0002148 ! Hypophosphatemia [Term] id: MONDO:0000314 name: primary bacterial infectious disease -def: "A bacterial infectious disease that results_in infection by bacteria as a result of their presence or activity within the normal, healthy host, and their intrinsic virulence is, in part, a necessary consequence of their need to reproduce and spread." [DOID:0050338, http://en.wikipedia.org/wiki/Infectious_disease] -comment: Editor note: TODO DP to infer this. xref: DOID:0050338 {source="MONDO:equivalentTo"} is_a: MONDO:0005113 {source="DOID:0050338", source="MONDOLEX:0000314"} ! bacterial infectious disease +intersection_of: MONDO:0005113 ! bacterial infectious disease +intersection_of: has_modifier MONDO:0045036 ! primary infectious [Term] id: MONDO:0000315 name: commensal bacterial infectious disease def: "A bacterial infectious disease that results_in infection by bacteria which are part of the normal human flora when one or more of the defense mechanisms designed to restrict them from the usually sterile internal tissues are breached by accident, by intent (surgery), or by an underlying metabolic or an infectious disorder." [DOID:0050339, http://books.google.com/books?id=mgmataMQjMwC&pg=PA388&lpg#v=onepage&q&f=false] +comment: Editor note: TODO +synonym: "opportunistic bacterial infectious disease" EXACT [] xref: DOID:0050339 {source="MONDO:equivalentTo"} is_a: MONDO:0005113 {source="DOID:0050339", source="MONDOLEX:0000315"} ! bacterial infectious disease [Term] id: MONDO:0000316 name: opportunistic bacterial infectious disease -def: "A bacterial infectious disease that results_in infection by bacteria in individuals whose host defense mechanisms have been compromised." [DOID:0050340, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A545] xref: DOID:0050340 {source="MONDO:equivalentTo"} is_a: MONDO:0005113 {source="DOID:0050340", source="MONDOLEX:0000316"} ! bacterial infectious disease +intersection_of: MONDO:0005113 ! bacterial infectious disease +intersection_of: has_modifier MONDO:0045035 ! opportunistic infectious [Term] id: MONDO:0000317 @@ -3272,7 +3328,7 @@ xref: SCTID:402902002 {source="DOID:0050495"} xref: SCTID:54385001 {source="DOID:0050495", source="MONDO:kboom-pr-1.00/0.80/10.23", source="MONDO:equivalentTo"} xref: UMLS:C0015231 {source="DOID:0050495", source="MONDO:equivalentTo"} xref: UMLS:C0595993 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C128420", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="EFO:1001320", source="MESH:D005077/inferred", source="MONDO:Redundant", source="NCIT:C128420", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:0050495", source="EFO:1001320", source="MESH:D005077/inferred", source="MONDO:Redundant", source="NCIT:C128420", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease is_a: MONDO:0006547 {source="MESH:D005077", source="MONDO:cjm", source="linkedlifedata"} ! exanthem (disease) relationship: realized_in_response_to_stimulus NCBITaxon:10368 {source="Wikidata"} ! Human herpesvirus 6 relationship: realized_in_response_to_stimulus NCBITaxon:10372 ! Human betaherpesvirus 7 @@ -3326,7 +3382,7 @@ xref: ICD10:A92.1 {source="MONDO:equivalentTo"} xref: MEDGEN:547234 {source="UMLS:C0276286"} xref: SCTID:85579005 {source="MONDO:kboom-pr-0.78/0.39/0.84", source="UMLS:C0276286", source="MONDO:equivalentTo"} xref: UMLS:C0276286 {source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="DOID:0050516", source="MONDO:Redundant", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:0050516", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:11027 ! O'nyong-nyong virus relationship: disease_has_feature HP:0000988 {source="Wikidata"} ! Skin rash @@ -3355,7 +3411,7 @@ synonym: "Ross River virus disease" EXACT [DOID:0050518] xref: DOID:0050518 {source="MONDO:equivalentTo"} xref: SCTID:602001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0035865 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="DOID:0050518", source="MONDO:Redundant", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:0050518", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:11029 ! Ross River virus relationship: disease_has_feature HP:0002829 ! Arthralgia @@ -3369,7 +3425,7 @@ xref: DOID:0050521 {source="MONDO:equivalentTo"} xref: MEDGEN:547314 {source="UMLS:C0276386"} xref: SCTID:72880002 {source="UMLS:C0276386", source="MONDO:kboom-pr-1.00/0.80/10.23", source="MONDO:equivalentTo"} xref: UMLS:C0276386 {source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="DOID:0050521", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:0050521", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:118655 ! Oropouche virus relationship: disease_has_feature HP:0002829 ! Arthralgia @@ -3377,11 +3433,11 @@ relationship: transmitted_by NCBITaxon:41820 ! Culicoides [Term] id: MONDO:0000346 -name: Balkan hemorrhagic fever -def: "A disease caused by infection with Dobrava-Belgrade hantavirus." [MONDO:patterns/infectious_disease_by_agent] +name: Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type +synonym: "Balkan hemorrhagic fever" EXACT [https://en.wikipedia.org/wiki/Hantavirus_hemorrhagic_fever_with_renal_syndrome] xref: DOID:0050522 {source="MONDO:equivalentTo"} is_a: MONDO:0005784 {source="DOID:0050522", source="MONDO:Entailed"} ! hantavirus hemorrhagic fever with renal syndrome -intersection_of: MONDO:0000001 ! disease or disorder +intersection_of: MONDO:0005784 ! hantavirus hemorrhagic fever with renal syndrome intersection_of: realized_in_response_to_stimulus NCBITaxon:12506 ! Dobrava-Belgrade hantavirus relationship: disease_has_feature HP:0000083 ! Renal insufficiency relationship: disease_has_feature HP:0000093 ! Proteinuria @@ -3416,14 +3472,16 @@ replaced_by: MONDO:0018778 [Term] id: MONDO:0000351 -name: hypermethioninemia (disease) -def: "An amino acid metabolic disorder that involves an excess of the amino acid methionine, in the blood. This condition can occur when methionine is not broken down properly in the body." [DOID:0050544, http://en.wikipedia.org/wiki/Hypermethioninemia] +name: disorder of methionine catabolism synonym: "hypermethioninemia" EXACT [MONDO:ambiguous] xref: DOID:0050544 {source="MONDO:equivalentTo"} xref: HP:0003235 {source="MONDO:otherHierarchy", source="ontobio"} xref: SCTID:43123004 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C4048705 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0004736 {source="DOID:0050544"} ! inherited amino acid metabolic disorder +is_a: MONDO:0019222 {source="linkedlifedata"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism +intersection_of: MONDO:0019052 ! inborn errors of metabolism +intersection_of: disease_has_basis_in_disruption_of GO:0009087 ! methionine catabolic process [Term] id: MONDO:0000352 @@ -3472,7 +3530,7 @@ xref: SCTID:240062007 {source="MONDO:kboom-pr-0.94/0.75/1.80", source="MONDO:equ xref: UMLS:C0410179 {source="NCIT:C123438", source="Orphanet:75840", source="GARD:0004769", source="MEDGEN:kboom-pr98-c99", source="OMIM:254090", source="MONDO:equivalentTo"} is_a: MONDO:0016148 {source="Orphanet:75840"} ! qualitative or quantitative defects of collagen 6 is_a: MONDO:0019950 {source="DOID:0050558", source="MONDOLEX:0000355", source="Orphanet:75840", source="linkedlifedata"} ! congenital muscular dystrophy -is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C123438", source="Orphanet:75840/inferred", source="linkedlifedata"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:0050558/inferred", source="MONDO:Redundant", source="NCIT:C123438", source="Orphanet:75840/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy [Term] id: MONDO:0000356 @@ -3489,6 +3547,7 @@ replaced_by: MONDO:0018097 [Term] id: MONDO:0000358 name: orofacial cleft +comment: Editor notes: most subtypes are isolated subset: clingen xref: DOID:0050567 {source="MONDO:equivalentTo"} xref: OMIM:119530 {source="DOID:0050567", source="MONDO:superClassOf"} @@ -3506,7 +3565,11 @@ xref: OMIM:615892 {source="DOID:0050567", source="MONDO:superClassOf"} xref: OMIMPS:119530 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:449790007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:CN221583 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000839 {source="DOID:0050567"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:0050567"} ! congenital abnormality +is_a: MONDO:0044987 ! face disease +relationship: disease_has_basis_in_development_of UBERON:0012314 ! embryonic facial prominence +relationship: disease_has_location UBERON:0001456 ! face +relationship: disease_has_major_feature HP:0000202 ! Oral cleft [Term] id: MONDO:0000359 @@ -3571,8 +3634,8 @@ xref: NCIT:C150251 {source="MONDO:equivalentTo"} xref: OMIM:613085 {source="DOID:0050593", source="MONDO:superClassOf"} xref: OMIM:613086 {source="DOID:0050593", source="MONDO:superClassOf"} xref: SCTID:415176004 {source="MONDO:kboom-pr-0.93/0.83/0.40", source="MONDO:equivalentTo"} -is_a: MONDO:0005041 {source="DOID:0050593", source="MONDO:Redundant", source="linkedlifedata"} ! glaucoma (disease) -is_a: MONDO:0020366 {source="MONDO:cjm", source="linkedlifedata"} ! congenital glaucoma +is_a: MONDO:0005041 {source="DOID:0050593", source="MONDO:Redundant", source="NCIT:C150251/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! glaucoma (disease) +is_a: MONDO:0020366 {source="MONDO:cjm", source="NCIT:C150251", source="linkedlifedata"} ! congenital glaucoma [Term] id: MONDO:0000366 @@ -3584,7 +3647,8 @@ xref: DOID:0050594 {source="MONDO:equivalentTo"} xref: NCIT:C122662 {source="MONDO:kboom-pr-0.93/0.85/0.08", source="MONDO:equivalentTo"} xref: SCTID:235908005 {source="MONDO:kboom-pr-0.69/0.35/0.09", source="MONDO:equivalentTo"} xref: UMLS:C0268147 {source="NCIT:C122662"} -is_a: MONDO:0002412 {source="DOID:0050594", source="NCIT:C122662", source="linkedlifedata"} ! glycogen storage disease +is_a: MONDO:0002412 {source="DOID:0050594", source="DOID:0050594/inferred", source="NCIT:C122662", source="linkedlifedata"} ! glycogen storage disease +relationship: disease_disrupts GO:0004689 ! phosphorylase kinase activity [Term] id: MONDO:0000367 @@ -3608,9 +3672,9 @@ xref: NCIT:C85180 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equiva xref: SCTID:69163003 {source="MONDO:kboom-pr-1.00/0.79/8.07", source="DOID:0050596", source="MONDO:equivalentTo"} xref: UMLS:C0039254 {source="NCIT:C85180"} xref: UMLS:C0152073 {source="DOID:0050596", source="MONDO:equivalentTo"} -is_a: MONDO:0004664 {source="DOID:0050596", source="ICD10:B68", source="MESH:D013622/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! helminthiasis +is_a: MONDO:0004664 {source="DOID:0050596", source="ICD10:B68", source="MESH:D013622/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis is_a: MONDO:0005020 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! intestinal disease -is_a: MONDO:0005135 {source="EFO:1001433", source="MESH:D013622/inferred", source="MONDO:Redundant", source="NCIT:C85180", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0005135 {source="DOID:0050596/inferred", source="EFO:1001433", source="MESH:D013622/inferred", source="MONDO:Redundant", source="NCIT:C85180", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:6202 ! Taenia @@ -3630,7 +3694,7 @@ name: abdominal tuberculosis def: "An extrapulmonary tuberculosis that is located_in gastrointestinal tract, located_in peritoneum, located_in omentum, located_in mesentery, located_in liver, located_in spleen or located_in pancreas." [DOID:0050599, http://www.pneumonologia.gr/articlefiles/20070307_EXTRAPULMONARY_tbc.pdf] synonym: "tuberculosis of abdomen" EXACT [] xref: DOID:0050599 {source="MONDO:equivalentTo"} -xref: ICD9:014.80 {source="linkedlife"} +xref: ICD9:014.80 {source="linkedlifedata"} xref: SCTID:447330002 {source="MONDO:equivalentTo"} xref: UMLS:C0740652 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000368 {source="DOID:0050599"} ! extrapulmonary tuberculosis @@ -3669,7 +3733,7 @@ xref: NCIT:C4587 {source="kboom:pr0.91-conf29.65", source="MONDO:equivalentTo"} xref: SCTID:92660005 {source="MONDO:kboom-pr-0.76/0.38/0.65", source="MONDO:equivalentTo"} xref: UMLS:C0347073 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4587", source="MONDO:equivalentTo"} is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C4587/inferred", source="OWLReasoner:Elk-2018-03-06"} ! head and neck carcinoma -is_a: MONDO:0004647 {source="DOID:0050610", source="MONDO:Entailed", source="MONDOLEX:0000371", source="NCIT:C4587/inferred", source="linkedlife", source="linkedlifedata"} ! in situ carcinoma +is_a: MONDO:0004647 {source="DOID:0050610", source="MONDO:Entailed", source="MONDOLEX:0000371", source="NCIT:C4587/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma is_a: MONDO:0005515 {source="MONDO:Entailed", source="MONDOLEX:0000371", source="NCIT:C4587/inferred", source="OWLReasoner:Elk-2018-01-05"} ! oral cavity cancer intersection_of: MONDO:0004647 ! in situ carcinoma intersection_of: disease_has_location UBERON:0000167 ! oral cavity @@ -3694,7 +3758,7 @@ xref: DOID:0050611 {source="MONDO:equivalentTo"} xref: NCIT:C4942 {source="MONDO:equivalentTo"} xref: SCTID:92681005 {source="MONDO:kboom-pr-0.75/0.37/0.60", source="MONDO:equivalentTo"} xref: UMLS:C0347098 {source="NCIT:C4942", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004647 {source="DOID:0050611", source="MONDO:Entailed", source="MONDOLEX:0000372", source="NCIT:C4942", source="linkedlifedata"} ! in situ carcinoma +is_a: MONDO:0004647 {source="DOID:0050611", source="MONDO:Entailed", source="MONDOLEX:0000372", source="NCIT:C4942", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma is_a: MONDO:0021345 {source="MONDO:Entailed", source="NCIT:C4942", source="OWLReasoner:Elk-2018-01-09"} ! carcinoma of pharynx intersection_of: MONDO:0004647 ! in situ carcinoma intersection_of: disease_has_location UBERON:0006562 ! pharynx @@ -3733,7 +3797,7 @@ synonym: "stage 0 bronchus carcinoma" EXACT [MONDO:patterns/carcinoma_in_situ] xref: DOID:0050614 {source="MONDO:equivalentTo"} xref: SCTID:92557009 {source="MONDO:kboom-pr-0.75/0.37/0.59", source="MONDO:equivalentTo"} xref: UMLS:C2939445 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0004647 {source="DOID:0050614", source="MONDO:Redundant", source="linkedlifedata"} ! in situ carcinoma +is_a: MONDO:0004647 {source="DOID:0050614", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma intersection_of: MONDO:0004647 ! in situ carcinoma intersection_of: disease_has_location UBERON:0002185 ! bronchus @@ -3750,8 +3814,8 @@ xref: ICD9:165.8 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:165.9 {source="i2s", source="MONDO:equivalentTo"} xref: SCTID:449096009 {source="MONDO:kboom-pr-0.78/0.39/0.86", source="MONDO:equivalentTo"} xref: UMLS:C3164456 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004992 {source="DOID:0050615", source="MONDO:Entailed", source="MONDOLEX:0000376", source="linkedlife"} ! cancer -is_a: MONDO:0005087 {source="DOID:0050615", source="MONDO:Entailed", source="linkedlife", source="linkedlifedata"} ! respiratory system disease +is_a: MONDO:0004992 {source="DOID:0050615", source="DOID:0050615/inferred", source="MONDO:Entailed", source="MONDOLEX:0000376", source="linkedlifedata"} ! cancer +is_a: MONDO:0005087 {source="DOID:0050615", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system disease intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001004 ! respiratory system @@ -3808,6 +3872,8 @@ name: paranasal sinus carcinoma def: "A malignant epithelial neoplasm arising in the paranasal sinus." [NCIT:C6014] synonym: "accessory sinus cancer" EXACT [NCIT:C6014] synonym: "accessory sinus carcinoma" EXACT [NCIT:C6014] +synonym: "adenoid cystic carcinoma of Accessory sinus" EXACT [DOID:0050619] +synonym: "adenoid cystic carcinoma of paranasal sinus" RELATED [DOID:0050619] synonym: "cancer of paranasal sinus" EXACT [MONDO:patterns/cancer] synonym: "carcinoma of accessory sinus" EXACT [NCIT:C6014] synonym: "carcinoma of paranasal sinus" EXACT [NCIT:C6014] @@ -3818,6 +3884,7 @@ synonym: "malignant neoplasm of paranasal sinus" EXACT [MONDO:patterns/cancer] synonym: "malignant paranasal sinus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "mucoepidermoid carcinoma of accessory sinus" RELATED [DOID:0050619] synonym: "paranasal sinus adenocarcinoma" RELATED [DOID:0050619] +synonym: "paranasal sinus adenoid cystic carcinoma" EXACT [DOID:0050619] synonym: "paranasal sinus cancer" EXACT [MONDO:patterns/location, NCIT:C6014] synonym: "paranasal sinus carcinoma" EXACT [NCIT:C6014] synonym: "paranasal sinus mucoepidermoid carcinoma" RELATED [DOID:0050619] @@ -3856,8 +3923,8 @@ synonym: "respiratory system benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0050621 {source="MONDO:equivalentTo"} xref: SCTID:255166003 {source="MONDO:kboom-pr-0.75/0.37/0.59", source="MONDO:equivalentTo"} xref: UMLS:C0497556 {source="MONDO:equivalentTo"} -is_a: MONDO:0005087 {source="DOID:0050621", source="MONDO:Entailed", source="linkedlife", source="linkedlifedata"} ! respiratory system disease -is_a: MONDO:0005165 {source="DOID:0050621", source="MONDO:Entailed", source="MONDOLEX:0000382"} ! benign neoplasm +is_a: MONDO:0005087 {source="DOID:0050621", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system disease +is_a: MONDO:0005165 {source="DOID:0050621", source="DOID:0050621/inferred", source="MONDO:Entailed", source="MONDOLEX:0000382"} ! benign neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001004 ! respiratory system @@ -3870,7 +3937,7 @@ synonym: "reproductive organ benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0050622 {source="MONDO:equivalentTo"} xref: NCIT:C7617 {source="MONDO:equivalentTo"} xref: UMLS:C1332536 {source="NCIT:C7617", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005165 {source="DOID:0050622", source="MONDO:Entailed", source="MONDOLEX:0000383"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:0050622", source="DOID:0050622/inferred", source="MONDO:Entailed", source="MONDOLEX:0000383"} ! benign neoplasm is_a: MONDO:0006054 {source="NCIT:C7617"} ! reproductive system neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000990 ! reproductive system @@ -3930,7 +3997,7 @@ xref: DOID:0050624 {source="MONDO:equivalentTo"} xref: NCIT:C4787 {source="MONDO:equivalentTo"} xref: UMLS:C0497538 {source="NCIT:C4787", source="MONDO:equivalentTo"} is_a: MONDO:0004335 {source="DOID:0050624", source="MONDO:Entailed", source="NCIT:C4787/inferred"} ! digestive system disease -is_a: MONDO:0005165 {source="DOID:0050624", source="MONDO:Entailed", source="MONDO:Inferred", source="MONDOLEX:0000385"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:0050624", source="DOID:0050624/inferred", source="MONDO:Entailed", source="MONDO:Inferred", source="MONDOLEX:0000385"} ! benign neoplasm is_a: MONDO:0021223 {source="MONDO:Entailed", source="MONDOLEX:0000385", source="NCIT:C4787", source="OWLReasoner:Elk-2018-01-09"} ! digestive system neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0005409 ! alimentary part of gastrointestinal system @@ -3953,7 +4020,7 @@ xref: DOID:0050626 {source="MONDO:equivalentTo"} xref: NCIT:C95404 {source="MONDO:equivalentTo"} xref: ONCOTREE:GINET {source="MONDO:equivalentTo"} xref: UMLS:C2987127 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C95404", source="MONDO:equivalentTo"} -is_a: MONDO:0004335 {source="MONDO:Redundant", source="NCIT:C95404/inferred", source="OWLReasoner:Elk-2018-01-05"} ! digestive system disease +is_a: MONDO:0004335 {source="DOID:0050626/inferred", source="MONDO:Redundant", source="NCIT:C95404/inferred", source="OWLReasoner:Elk-2018-01-05"} ! digestive system disease is_a: MONDO:0019496 {source="MONDO:Redundant", source="NCIT:C95404/inferred", source="OWLReasoner:2017"} ! neuroendocrine neoplasm is_a: MONDO:0021223 {source="MONDO:Redundant", source="NCIT:C95404/inferred", source="OWLReasoner:Elk-2018-01-09"} ! digestive system neoplasm intersection_of: MONDO:0019496 ! neuroendocrine neoplasm @@ -4052,6 +4119,7 @@ xref: DOID:0050668 {source="MONDO:equivalentTo"} xref: NCIT:C92727 {source="MONDO:equivalentTo"} xref: UMLS:C3146244 {source="NCIT:C92727"} is_a: MONDO:0000408 {source="DOID:0050668", source="https://www.cdc.gov/ncbddd/fasd/facts.html"} ! fetal alcohol spectrum disorder +relationship: realized_in_response_to ECTO:0001082 ! alcohol consumption related exposure [Term] id: MONDO:0000396 @@ -4074,7 +4142,7 @@ xref: ICD9:343.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C97168 {source="MONDO:equivalentTo"} xref: SCTID:192958009 {source="MONDO:kboom-pr-0.93/0.85/0.11", source="MONDO:equivalentTo"} xref: UMLS:C0394005 {source="NCIT:C97168"} -is_a: MONDO:0006497 {source="DOID:0050670", source="MONDOLEX:0000397", source="NCIT:C97168", source="linkedlifedata"} ! cerebral palsy +is_a: MONDO:0006497 {source="DOID:0050670", source="MONDOLEX:0000397", source="NCIT:C97168", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebral palsy relationship: disease_has_feature HP:0001252 ! Muscular hypotonia relationship: disease_has_feature MONDO:0006497 ! cerebral palsy @@ -4091,7 +4159,7 @@ def: "A cerebral palsy that is caused by damage to the extrapyramidal motor syst synonym: "athetoid dyskinetic cerebral palsy" EXACT [DOID:0050672] xref: DOID:0050672 {source="MONDO:equivalentTo"} xref: SCTID:230780007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} -is_a: MONDO:0006497 {source="DOID:0050672", source="MONDOLEX:0000399", source="linkedlifedata"} ! cerebral palsy +is_a: MONDO:0006497 {source="DOID:0050672", source="MONDOLEX:0000399", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebral palsy relationship: disease_has_feature HP:0001252 ! Muscular hypotonia relationship: disease_has_feature HP:0001276 ! Hypertonia relationship: disease_has_feature MONDO:0006497 ! cerebral palsy @@ -4210,9 +4278,9 @@ xref: DOID:0050697 {source="MONDO:equivalentTo"} xref: NCIT:C26720 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} xref: SCTID:11612004 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0008495 {source="NCIT:C26720"} -is_a: MONDO:0005113 {source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0005917 {source="DOID:0050697", source="NCIT:C26720/inferred"} ! placenta disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C26720/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C26720/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0005630 ! fetal membrane relationship: realized_in_response_to_stimulus NCBITaxon:2 ! Bacteria @@ -4257,7 +4325,9 @@ is_a: MONDO:0000411 {source="DOID:0050703"} ! electroclinical syndrome [Term] id: MONDO:0000414 name: childhood electroclinical syndrome -def: "An electroclinical syndrome with onset in childhood between one and 12 years of age." [DOID:0050704, PMID:20196795] +def: "A electroclinical syndrome that occurs during childhood." [MONDO:design_pattern] +synonym: "electroclinical syndrome of childhood" EXACT [MONDO:design_pattern] +synonym: "pediatric electroclinical syndrome" EXACT [MONDO:design_pattern] xref: DOID:0050704 {source="MONDO:equivalentTo"} is_a: MONDO:0000411 {source="DOID:0050704"} ! electroclinical syndrome intersection_of: MONDO:0000411 ! electroclinical syndrome @@ -4314,15 +4384,9 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006564 ! L-serine biosyn [Term] id: MONDO:0000422 -name: inborn glycogen metabolism disorder -def: "An acquired metabolic disease that is has its basis in the disruption of glycogen metabolic process." [MONDO:patterns/inborn_metabolic] -synonym: "glycogen metabolism disorder" RELATED [DOID:0050728] -synonym: "inborn error of glycogen metabolic process" EXACT [MONDO:patterns/inborn_metabolic] -synonym: "rare inborn error of glycogen metabolic process" RELATED [MONDO:patterns/inborn_metabolic] -xref: DOID:0050728 {source="MONDO:equivalentTo"} -is_a: MONDO:0019214 {source="DOID:0050728", source="MONDO:Entailed"} ! inborn carbohydrate metabolic disorder -intersection_of: MONDO:0019052 ! inborn errors of metabolism -intersection_of: disease_has_basis_in_disruption_of GO:0005977 ! glycogen metabolic process +name: obsolete inborn glycogen metabolism disorder +is_obsolete: true +replaced_by: MONDO:0002412 [Term] id: MONDO:0000423 @@ -4348,7 +4412,7 @@ xref: NCIT:C131684 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equiv xref: SCTID:190634004 {source="MONDO:kboom-pr-1.00/0.77/6.14", source="MONDO:equivalentTo"} xref: UMLS:C0042847 {source="NCIT:C131684", source="MONDO:equivalentTo"} is_a: MONDO:0005528 {source="DOID:0050731", source="HP:0100502", source="MONDO:Entailed"} ! inborn vitamin metabolic disorder -is_a: MONDO:0042976 {source="NCIT:C131684"} ! vitamin B deficiency +is_a: MONDO:0042976 {source="MESH:D014806", source="NCIT:C131684", source="linkedlifedata"} ! vitamin B deficiency intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0009235 ! cobalamin metabolic process @@ -4364,6 +4428,7 @@ synonym: "genetic diseases, X chromosome linked" RELATED [MESH:D040181] synonym: "genetic diseases, X linked" RELATED [MESH:D040181] synonym: "genetic diseases, X-chromosome linked" RELATED [MESH:D040181] synonym: "X linked genetic diseases" RELATED [MESH:D040181] +synonym: "X-linked disease or disorder" EXACT [MONDO:design_pattern] synonym: "X-linked genetic disease" RELATED [MESH:D040181] synonym: "X-linked genetic diseases" RELATED [MESH:D040181] synonym: "X-linked hereditary disease" EXACT [] @@ -4377,7 +4442,7 @@ xref: NCIT:C85865 {source="MONDO:equivalentTo"} xref: SCTID:128430005 {source="MONDO:equivalentTo"} xref: UMLS:C2828000 {source="NCIT:C85865"} is_a: MONDO:0000275 {source="DOID:0050735"} ! monogenic disease -is_a: MONDO:0003847 {source="MESH:D040181", source="MONDO:Redundant", source="NCIT:C85865", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="DOID:0050735/inferred", source="MESH:D040181", source="MONDO:Redundant", source="NCIT:C85865", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: has_modifier HP:0001417 ! X-linked inheritance disjoint_from: MONDO:0000426 ! autosomal dominant disease @@ -4387,6 +4452,7 @@ disjoint_from: MONDO:0006025 ! autosomal recessive disease id: MONDO:0000426 name: autosomal dominant disease def: "Autosomal dominant form of disease." [MONDO:patterns/autosomal_dominant] +synonym: "autosomal dominant disease or disorder" EXACT [MONDO:design_pattern] synonym: "autosomal dominant hereditary disorder" EXACT [] synonym: "autosomal dominant inherited disorder" EXACT [] synonym: "disease, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] @@ -4417,13 +4483,14 @@ synonym: "genetic diseases, Y chromosome linked" RELATED [MESH:D050174] synonym: "genetic diseases, Y linked" RELATED [MESH:D050174] synonym: "genetic diseases, Y-chromosome linked" RELATED [MESH:D050174] synonym: "Y linked genetic diseases" RELATED [MESH:D050174] +synonym: "Y-linked disease or disorder" EXACT [MONDO:design_pattern] synonym: "Y-linked genetic disease" RELATED [MESH:D050174] synonym: "Y-linked genetic diseases" RELATED [MESH:D050174] xref: DOID:0050738 {source="MONDO:equivalentTo"} xref: MESH:D050174 {source="MONDO:equivalentTo"} xref: UMLS:C1563751 {source="MONDO:equivalentTo"} is_a: MONDO:0000275 {source="DOID:0050738"} ! monogenic disease -is_a: MONDO:0003847 {source="MESH:D050174"} ! inherited genetic disease +is_a: MONDO:0003847 {source="DOID:0050738/inferred", source="MESH:D050174"} ! inherited genetic disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: has_modifier HP:0001450 ! Y-linked inheritance @@ -4467,8 +4534,8 @@ xref: NCIT:C3468 {source="MONDO:equivalentTo"} xref: SCTID:109977009 {source="MONDO:equivalentTo"} xref: UMLS:C0079774 {source="NCIT:C3468", source="GARD:0007368"} is_a: MONDO:0005169 {source="NCIT:C3468"} ! neoplasm of mature T-cells or NK-cells -is_a: MONDO:0015760 {source="MONDOLEX:0000430", source="NCIT:C3468"} ! T-cell non-Hodgkin lymphoma -is_a: MONDO:0018908 {source="DOID:0050743", source="MONDO:0000430/inferred", source="MONDOLEX:0000430/inferred", source="NCIT:C3468/inferred"} ! non-Hodgkin lymphoma +is_a: MONDO:0015760 {source="MESH:D016411", source="MONDOLEX:0000430", source="NCIT:C3468", source="linkedlifedata/inferred"} ! T-cell non-Hodgkin lymphoma +is_a: MONDO:0018908 {source="DOID:0050743", source="DOID:0050749/inferred", source="MESH:D016411/inferred", source="MONDO:0000430/inferred", source="MONDOLEX:0000430/inferred", source="NCIT:C3468/inferred"} ! non-Hodgkin lymphoma intersection_of: MONDO:0005169 {source="NCIT:C3468"} ! neoplasm of mature T-cells or NK-cells intersection_of: MONDO:0015760 {source="NCIT:C3468"} ! T-cell non-Hodgkin lymphoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7368/peripheral-t-cell-lymphoma xsd:anyURI {source="GARD:0007368"} @@ -4564,8 +4631,8 @@ xref: MESH:D002524 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C82341 {source="MONDO:equivalentTo"} xref: Orphanet:102002 {source="MONDO:equivalentTo"} xref: SCTID:85102008 {source="MONDO:kboom-pr-1.00/0.91/25.72", source="MONDO:equivalentTo"} -is_a: MONDO:0002427 {source="DOID:0050753", source="MESH:D002524", source="linkedlife"} ! cerebellar disease -is_a: MONDO:0005071 {source="MESH:D002524/inferred", source="https://bestpractice.bmj.com/topics/en-gb/1097", source="linkedlife/inferred"} ! nervous system disorder +is_a: MONDO:0002427 {source="DOID:0050753", source="MESH:D002524", source="linkedlifedata"} ! cerebellar disease +is_a: MONDO:0005071 {source="DOID:0050753/inferred", source="MESH:D002524/inferred", source="https://bestpractice.bmj.com/topics/en-gb/1097", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! nervous system disorder is_a: MONDO:0005395 {source="MESH:D002524/inferred", source="https://bestpractice.bmj.com/topics/en-gb/1097"} ! movement disorder is_a: MONDO:0020009 {source="Orphanet:102002"} ! rare neurologic disease intersection_of: MONDO:0002254 ! syndromic disease @@ -4591,7 +4658,7 @@ id: MONDO:0000440 name: metabolic acidosis xref: DOID:0050758 {source="MONDO:equivalentTo"} xref: SCTID:59455009 {source="MONDO:equivalentTo"} -is_a: MONDO:0006022 {source="linkedlife"} ! acidosis disorder +is_a: MONDO:0006022 {source="linkedlifedata"} ! acidosis disorder relationship: excluded_subClassOf MONDO:0006040 {source="DOID:0050758"} ! lactic acidosis [Term] @@ -4645,7 +4712,7 @@ xref: OMIMPS:174050 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:72925005 {source="MONDO:kboom-pr-1.00/0.79/7.72", source="MONDO:equivalentTo"} xref: UMLS:C0158683 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C82833", source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0050770"} ! autosomal dominant disease -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0003847 {source="DOID:0050770/inferred"} ! inherited genetic disease relationship: disease_has_location UBERON:0002107 ! liver [Term] @@ -4786,8 +4853,9 @@ xref: Orphanet:1871 {source="MONDO:equivalentTo"} xref: SCTID:312917007 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0271092 {source="ORDO:1871/e", source="Orphanet:1871"} xref: UMLS:C0730290 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004589 {source="MONDO:cjm", source="linkedlifedata"} ! hereditary retinal dystrophy -is_a: MONDO:0005283 {source="DOID:0050795", source="MONDO:Redundant", source="linkedlifedata"} ! retinal disease +is_a: MONDO:0004589 {source="linkedlifedata"} ! obsolete hereditary retinal dystrophy +is_a: MONDO:0005283 {source="DOID:0050795", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinal disease +is_a: MONDO:0019118 {source="MONDO:cjm", source="linkedlifedata"} ! inherited retinal dystrophy is_a: MONDO:0020242 {source="Orphanet:1871"} ! genetic macular dystrophy [Term] @@ -4865,8 +4933,8 @@ synonym: "biotin deficiency disease" BROAD [] xref: DOID:0050810 {source="MONDO:equivalentTo"} xref: MESH:C531633 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:49607006 {source="MONDO:equivalentTo"} -is_a: MONDO:0006873 {source="DOID:0050810"} ! nutritional deficiency disease -is_a: MONDO:0024298 {source="linkedlife"} ! vitamin deficiency disorder +is_a: MONDO:0006873 {source="DOID:0050810", source="linkedlifedata/inferred"} ! nutritional deficiency disease +is_a: MONDO:0024298 {source="linkedlifedata"} ! vitamin deficiency disorder intersection_of: MONDO:0006873 ! nutritional deficiency disease intersection_of: disease_has_basis_in_disruption_of GO:0006768 ! biotin metabolic process @@ -4877,11 +4945,12 @@ def: "A disease involving the ocular adnexa." [MONDO:patterns/location_top] synonym: "disease of ocular adnexa" EXACT [MONDO:patterns/location_top] synonym: "disorder of ocular adnexa" EXACT [MONDO:patterns/location_top] synonym: "ocular adnexa disease" EXACT [MONDO:patterns/location] +synonym: "ocular adnexa disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:0050815 {source="MONDO:equivalentTo"} xref: ICD10:H00.H06 {source="MONDO:equivalentTo"} xref: SCTID:118941004 {source="MONDO:equivalentTo"} xref: UMLS:C1290855 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002022 {source="DOID:0050815", source="ICD10:H00.H06"} ! disease of orbital region +is_a: MONDO:0002022 {source="DOID:0050815", source="ICD10:H00.H06", source="linkedlifedata"} ! disease of orbital region intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0035639 ! ocular adnexa @@ -4961,8 +5030,8 @@ xref: ICD9:426.11 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C62015 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"} xref: SCTID:270492004 {source="MONDO:kboom-pr-0.78/0.38/0.83", source="MONDO:equivalentTo"} xref: UMLS:C0085614 {source="NCIT:C62015", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000465 {source="DOID:0050821", source="linkedlifedata"} ! atrioventricular block (disease) -is_a: MONDO:0007263 {source="MONDO:Redundant", source="NCIT:C62015", source="linkedlifedata"} ! cardiac rhythm disease +is_a: MONDO:0000465 {source="DOID:0050821", source="linkedlifedata", source="linkedlifedata/inferred"} ! atrioventricular block (disease) +is_a: MONDO:0007263 {source="MONDO:Redundant", source="NCIT:C62015", source="linkedlifedata", source="linkedlifedata/inferred"} ! cardiac rhythm disease [Term] id: MONDO:0000467 @@ -4980,8 +5049,8 @@ xref: ICD9:426.13 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C111119 {source="MONDO:kboom-pr-0.77/0.38/0.76", source="MONDO:equivalentTo"} xref: SCTID:195042002 {source="MONDO:kboom-pr-0.78/0.39/0.84", source="MONDO:equivalentTo"} xref: UMLS:C0264906 {source="NCIT:C111119"} -is_a: MONDO:0000465 {source="DOID:0050822", source="linkedlifedata"} ! atrioventricular block (disease) -is_a: MONDO:0007263 {source="MONDO:Redundant", source="NCIT:C111119", source="linkedlifedata"} ! cardiac rhythm disease +is_a: MONDO:0000465 {source="DOID:0050822", source="linkedlifedata", source="linkedlifedata/inferred"} ! atrioventricular block (disease) +is_a: MONDO:0007263 {source="MONDO:Redundant", source="NCIT:C111119", source="linkedlifedata", source="linkedlifedata/inferred"} ! cardiac rhythm disease [Term] id: MONDO:0000468 @@ -5001,8 +5070,8 @@ xref: ICD9:426.0 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C50501 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:27885002 {source="MONDO:kboom-pr-0.78/0.38/0.83", source="MONDO:equivalentTo"} xref: UMLS:C0151517 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C50501", source="MONDO:equivalentTo"} -is_a: MONDO:0000465 {source="DOID:0050823", source="SCTID:27885002", source="linkedlifedata"} ! atrioventricular block (disease) -is_a: MONDO:0007263 {source="MONDO:Redundant", source="NCIT:C50501", source="linkedlifedata"} ! cardiac rhythm disease +is_a: MONDO:0000465 {source="DOID:0050823", source="linkedlifedata"} ! atrioventricular block (disease) +is_a: MONDO:0007263 {source="MONDO:Redundant", source="NCIT:C50501", source="linkedlifedata", source="linkedlifedata/inferred"} ! cardiac rhythm disease [Term] id: MONDO:0000469 @@ -5012,6 +5081,7 @@ synonym: "disease of sinoatrial node" EXACT [MONDO:patterns/location_top] synonym: "disorder of sinoatrial node" RELATED [MONDO:patterns/location_top] synonym: "SA node" RELATED [DOID:0050824] synonym: "sinoatrial node disease" EXACT [MONDO:patterns/location] +synonym: "sinoatrial node disease or disorder" EXACT [MONDO:design_pattern] synonym: "sinuatrial node" RELATED [DOID:0050824] xref: DOID:0050824 {source="MONDO:equivalentTo"} is_a: MONDO:0000992 {source="DOID:0050824"} ! heart conduction disease @@ -5027,10 +5097,11 @@ synonym: "disorder of endocardium" RELATED [MONDO:patterns/location_top] synonym: "endocardial disease" EXACT [] synonym: "endocardiopathy" RELATED [] synonym: "endocardium disease" EXACT [MONDO:patterns/location] +synonym: "endocardium disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:0050825 {source="MONDO:equivalentTo"} xref: SCTID:123596001 {source="MONDO:equivalentTo"} xref: UMLS:C0854140 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0005267 {source="DOID:0050825", source="MONDO:Entailed", source="linkedlife"} ! heart disease +is_a: MONDO:0005267 {source="DOID:0050825", source="MONDO:Entailed", source="linkedlifedata"} ! heart disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002165 ! endocardium @@ -5040,26 +5111,28 @@ name: tricuspid valve disease def: "A disease involving the tricuspid valve." [MONDO:DesignPattern] synonym: "disease of tricuspid valve" EXACT [DOID:0050826, ICD9CM_2006:397.0, MONDO:patterns/location_top] synonym: "disorder of tricuspid valve" RELATED [MONDO:patterns/location_top] -synonym: "RH. tricuspid valve disease" RELATED [DOID:0050826, SCTID:155289000, SCTID:266282000] -synonym: "rheumatic disease of tricuspid valve" EXACT [DOID:0050826] -synonym: "rheumatic disease of tricuspid valve (disorder)" RELATED [DOID:0050826, SCTID:49699002] -synonym: "rheumatic tricuspid valve disease" RELATED [DOID:0050826] -synonym: "rheumatic tricuspid valve disease NOS (disorder)" RELATED [DOID:0050826, SCTID:194745002] +synonym: "RH. tricuspid valve disease" NARROW [DOID:0050826, SCTID:155289000, SCTID:266282000] +synonym: "rheumatic disease of tricuspid valve" NARROW [DOID:0050826] +synonym: "rheumatic disease of tricuspid valve (disorder)" NARROW [DOID:0050826, SCTID:49699002] +synonym: "rheumatic tricuspid valve disease" NARROW [DOID:0050826] +synonym: "rheumatic tricuspid valve disease NOS (disorder)" NARROW [DOID:0050826, SCTID:194745002] synonym: "tricuspid disease" EXACT [DOID:0050826, MTHICD9_2006:397.0] synonym: "tricuspid valve disease" EXACT [MONDO:patterns/location] +synonym: "tricuspid valve disease or disorder" EXACT [MONDO:design_pattern] synonym: "tricuspid valve disorder" EXACT [NCIT:C78649] xref: DOID:0050826 {source="MONDO:equivalentTo"} xref: ICD10:I07 {source="DOID:0050826"} xref: ICD10:I07.9 {source="DOID:0050826"} -xref: ICD9:397.0 {source="DOID:0050826"} +xref: ICD9:397.0 {source="DOID:0050826", source="linkedlifedata"} xref: NCIT:C78649 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:155289000 {source="DOID:0050826"} xref: SCTID:194745002 {source="DOID:0050826"} +xref: SCTID:20721001 {source="MONDO:equivalentTo"} xref: SCTID:266282000 {source="DOID:0050826"} -xref: SCTID:49699002 {source="DOID:0050826", source="MONDO:kboom-pr-0.69/0.37/0.09", source="MONDO:equivalentTo"} +xref: SCTID:49699002 {source="DOID:0050826"} xref: UMLS:C0264776 {source="DOID:0050826", source="MONDO:equivalentTo"} xref: UMLS:C0264882 {source="NCIT:C78649", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"} -is_a: MONDO:0002869 {source="DOID:0050826", source="MONDO:Entailed", source="NCIT:C78649", source="linkedlifedata"} ! heart valve disease +is_a: MONDO:0002869 {source="DOID:0050826", source="MONDO:Entailed", source="NCIT:C78649", source="linkedlifedata", source="linkedlifedata/inferred"} ! heart valve disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002134 ! tricuspid valve @@ -5078,15 +5151,16 @@ synonym: "arterial disease" RELATED [] synonym: "arterial disorder" EXACT [NCIT:C35317] synonym: "arteriopathy" EXACT [NCIT:C35317] synonym: "artery disease" EXACT [MONDO:patterns/location] +synonym: "artery disease or disorder" EXACT [MONDO:design_pattern] synonym: "disease of artery" EXACT [MONDO:patterns/location_top] synonym: "disorder of artery" EXACT [MONDO:patterns/location_top] xref: DOID:0050828 {source="MONDO:equivalentTo"} -xref: ICD9:447.8 {source="linkedlife"} -xref: ICD9:447.9 {source="linkedlife"} +xref: ICD9:447.8 {source="linkedlifedata"} +xref: ICD9:447.9 {source="linkedlifedata"} xref: NCIT:C35317 {source="MONDO:equivalentTo"} xref: SCTID:359557001 {source="MONDO:equivalentTo"} xref: UMLS:C0852949 {source="NCIT:C35317"} -is_a: MONDO:0005385 {source="DOID:0050828", source="MONDO:Entailed", source="linkedlife"} ! vascular disease +is_a: MONDO:0005385 {source="DOID:0050828", source="MONDO:Entailed", source="NCIT:C35317/inferred", source="linkedlifedata"} ! vascular disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001637 ! artery @@ -5097,12 +5171,13 @@ def: "A disease involving the pericardium." [MONDO:DesignPattern] synonym: "disease of pericardium" EXACT [MONDO:patterns/location_top] synonym: "disorder of pericardium" RELATED [MONDO:patterns/location_top] synonym: "pericardium disease" EXACT [MONDO:patterns/location] +synonym: "pericardium disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:0050829 {source="MONDO:equivalentTo"} xref: ICD9:423.8 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:423.9 {source="i2s", source="MONDO:equivalentTo"} xref: SCTID:55855009 {source="MONDO:equivalentTo"} xref: UMLS:C0265122 {source="MONDO:equivalentTo"} -is_a: MONDO:0004995 {source="DOID:0050829", source="MONDO:Entailed", source="linkedlife"} ! cardiovascular disease +is_a: MONDO:0004995 {source="DOID:0050829", source="MONDO:Entailed", source="linkedlifedata"} ! cardiovascular disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002407 ! pericardium @@ -5117,6 +5192,7 @@ id: MONDO:0000476 name: generalized dystonia comment: Editor note: TODO synonym: "childhood torsion disease" RELATED [MESH:D004422] +synonym: "Dystonia 12" RELATED [DOID:0050835] synonym: "Dystonia deformans musculorum" RELATED [MESH:D004422] synonym: "Dystonia deformans progressiva" RELATED [MESH:D004422] synonym: "dystonia deformans progressiva" EXACT [CSP2005:2057-3370, DOID:0050835] @@ -5205,8 +5281,10 @@ is_a: MONDO:0003441 {source="DOID:0050838", source="linkedlifedata"} ! dystonic id: MONDO:0000480 name: anismus def: "A focal dystonia of the pelvic floor muscles during attempted defecation." [https://en.wikipedia.org/wiki/Anismus] +synonym: "anal region skeletal muscle focal dystonia" EXACT [MONDO:design_pattern] synonym: "dyskinetic puborectalis" RELATED [https://en.wikipedia.org/wiki/Anismus] synonym: "dyssynergic defecation" RELATED [https://en.wikipedia.org/wiki/Anismus] +synonym: "focal dystonia of anal region skeletal muscle" EXACT [MONDO:design_pattern] synonym: "puborectalis syndrome" RELATED [https://en.wikipedia.org/wiki/Anismus] synonym: "rectosphincteric dyssynergia" RELATED [] synonym: "spastic pelvic floor syndrome" RELATED [] @@ -5235,7 +5313,7 @@ xref: Orphanet:93962 {source="MONDO:equivalentTo"} xref: SCTID:74333002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.54"} xref: UMLS:C0152116 {source="NCIT:C85072"} xref: UMLS:C0949445 {source="GARD:0010668"} -is_a: MONDO:0000477 {source="DOID:0050840", source="https://en.wikipedia.org/wiki/Dystonia", source="linkedlifedata"} ! focal dystonia +is_a: MONDO:0000477 {source="DOID:0050840", source="https://en.wikipedia.org/wiki/Dystonia", source="linkedlifedata", source="linkedlifedata/inferred"} ! focal dystonia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10668/cervical-dystonia xsd:anyURI {source="GARD:0010668"} [Term] @@ -5310,7 +5388,7 @@ xref: ICD9:333.99 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:427232004 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C1960561 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000478 {source="DOID:0050846"} ! multifocal dystonia -is_a: MONDO:0003441 {source="MONDO:Redundant", source="linkedlife"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0050846/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! dystonic disorder [Term] id: MONDO:0000488 @@ -5351,12 +5429,13 @@ relationship: disease_has_location UBERON:0000074 ! renal glomerulus id: MONDO:0000491 name: limb ischemia def: "A ischemia that involves the limb." [MONDO:patterns/location] +synonym: "ischemic disease of limb" EXACT [MONDO:design_pattern] synonym: "limb ischemia" EXACT [MONDO:patterns/location] synonym: "limb ischemic disease" EXACT [MONDO:patterns/location] xref: DOID:0050852 {source="MONDO:equivalentTo"} xref: SCTID:21631000119105 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C2945695 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005053 {source="DOID:0050852", source="MONDO:Entailed", source="linkedlifedata"} ! ischemic disease +is_a: MONDO:0005053 {source="DOID:0050852", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! ischemic disease intersection_of: MONDO:0005053 ! ischemic disease intersection_of: disease_has_location UBERON:0002101 ! limb @@ -5386,7 +5465,7 @@ xref: EFO:1001517 {source="MONDO:equivalentTo"} xref: SCTID:197660000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0151650 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000490 {source="MONDO:cjm", source="linkedlifedata"} ! glomerulosclerosis -is_a: MONDO:0005240 {source="DOID:0050855", source="EFO:1001517", source="EFO:1001517/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! kidney disease +is_a: MONDO:0005240 {source="DOID:0050855", source="EFO:1001517", source="EFO:1001517/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease relationship: disease_has_feature MONDO:0000490 ! glomerulosclerosis [Term] @@ -5429,8 +5508,8 @@ xref: NCIT:C121207 {source="MONDO:equivalentTo"} xref: SCTID:88981003 {source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo"} xref: UMLS:C0034215 {source="NCIT:C121207", source="MONDO:equivalentTo"} xref: UMLS:C0686163 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002654 {source="DOID:0050862", source="MONDO:Entailed", source="linkedlifedata"} ! uterine disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C121207/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0002654 {source="DOID:0050862", source="MESH:D055112", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! uterine disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C121207/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001296 ! myometrium @@ -5477,7 +5556,7 @@ xref: SCTID:402815007 {source="MONDO:subClassOf", source="DOID:0050865"} xref: UMLS:C0007137 {source="MONDO:subClassOf", source="DOID:0050865"} xref: UMLS:C0349566 {source="NCIT:C4648", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0004631 {source="DOID:0050865", source="MONDO:Entailed", source="NCIT:C4648/inferred"} ! tongue cancer -is_a: MONDO:0004958 {source="DOID:0050865", source="MONDO:Entailed", source="NCIT:C4648", source="linkedlife", source="linkedlifedata"} ! oral cavity squamous cell carcinoma +is_a: MONDO:0004958 {source="DOID:0050865", source="MONDO:Entailed", source="NCIT:C4648", source="linkedlifedata", source="linkedlifedata/inferred"} ! oral cavity squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0001723 ! tongue @@ -5524,6 +5603,7 @@ synonym: "adenosquamous cell carcinoma in situ of lung" EXACT [NCIT:C8748] synonym: "adenosquamous cell carcinoma in situ of the lung" EXACT [NCIT:C8748] synonym: "bronchioalveolar carcinoma" EXACT [DOID:0050870] synonym: "Bronchioloalveolar Carcinoma" EXACT [NCIT:C136486] +synonym: "in situ pulmonary adenocarcinoma" RELATED [DOID:0050870] synonym: "Lung Adenocarcinoma In Situ" EXACT [NCIT:C136486] synonym: "lung adenosquamous cell carcinoma in situ" EXACT [NCIT:C8748] synonym: "stage 0 adenosquamous cell carcinoma of lung" EXACT [NCIT:C8748] @@ -5599,7 +5679,7 @@ xref: OMIM:300486 {source="DOID:0050888", source="MONDO:relatedTo", source="MOND xref: OMIM:300860 {source="DOID:0050888", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: OMIM:309583 {source="DOID:0050888", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: UMLS:CN225415 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001071 {source="MONDO:Entailed"} ! intellectual disability +is_a: MONDO:0001071 {source="DOID:0050888", source="MONDO:Entailed"} ! intellectual disability intersection_of: MONDO:0001071 ! intellectual disability intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation @@ -5612,7 +5692,7 @@ synonym: "nonsyndromic intellectual disability" EXACT [MONDO:DesignPattern, MOND xref: DOID:0050889 {source="MONDO:equivalentTo"} xref: OMIM:613192 {source="DOID:0050889", source="MONDO:relatedTo"} xref: OMIM:614202 {source="DOID:0050889", source="MONDO:relatedTo", source="MONDO:superClassOf"} -is_a: MONDO:0001071 {source="MONDO:Entailed"} ! intellectual disability +is_a: MONDO:0001071 {source="DOID:0050889", source="MONDO:Entailed"} ! intellectual disability intersection_of: MONDO:0001071 ! intellectual disability intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation @@ -5643,6 +5723,7 @@ replaced_by: MONDO:0017795 id: MONDO:0000513 name: bone ameloblastoma def: "A ameloblastoma that involves the bone tissue." [MONDO:patterns/location] +synonym: "ameloblastoma of bone tissue" EXACT [MONDO:design_pattern] synonym: "bone tissue ameloblastoma" EXACT [MONDO:patterns/location] xref: DOID:0050895 {source="MONDO:equivalentTo"} is_a: MONDO:0000631 {source="DOID:0050895", source="MONDO:Entailed"} ! bone benign neoplasm @@ -5685,6 +5766,7 @@ id: MONDO:0000517 name: brain stem medulloblastoma def: "A medulloblastoma that involves the brainstem." [MONDO:patterns/location] synonym: "brainstem medulloblastoma" EXACT [MONDO:patterns/location] +synonym: "medulloblastoma of brainstem" EXACT [MONDO:design_pattern] xref: DOID:0050899 {source="MONDO:equivalentTo"} is_a: MONDO:0007959 {source="DOID:0050899", source="MONDO:Entailed"} ! medulloblastoma intersection_of: MONDO:0007959 ! medulloblastoma @@ -5708,6 +5790,7 @@ id: MONDO:0000519 name: corpus callosum oligodendroglioma def: "A oligodendroglioma that involves the corpus callosum." [MONDO:patterns/location] synonym: "corpus callosum oligodendroglioma" EXACT [MONDO:patterns/location] +synonym: "oligodendroglioma of corpus callosum" EXACT [MONDO:design_pattern] xref: DOID:0050901 {source="MONDO:equivalentTo"} is_a: MONDO:0002544 {source="DOID:0050901", source="MONDO:Entailed"} ! brain oligodendroglioma intersection_of: MONDO:0016695 ! oligodendroglioma @@ -5717,6 +5800,7 @@ intersection_of: disease_has_location UBERON:0002336 ! corpus callosum id: MONDO:0000520 name: parietal lobe ependymal tumor def: "An ependymal tumor affecting the parietal lobe of the brain." [NCIT:C131575] +synonym: "ependymal tumor of parietal lobe" EXACT [MONDO:design_pattern] synonym: "parietal lobe ependymal tumor" EXACT [MONDO:patterns/location, NCIT:C131575] synonym: "parietal lobe ependymoma" RELATED [DOID:0050903] xref: DOID:0050903 {source="MONDO:equivalentTo"} @@ -5743,7 +5827,7 @@ xref: NCIT:C9272 {source="MONDO:equivalentTo"} xref: ONCOTREE:SACA {source="MONDO:equivalentTo"} xref: UMLS:C0948750 {source="NCIT:C9272", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C9272"} ! head and neck carcinoma -is_a: MONDO:0004669 {source="DOID:0050904", source="MONDO:Entailed", source="MONDOLEX:0000521"} ! salivary gland cancer +is_a: MONDO:0004669 {source="DOID:0050904", source="MONDO:Entailed", source="MONDOLEX:0000521", source="NCIT:C9272"} ! salivary gland cancer intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland @@ -5827,7 +5911,7 @@ xref: DOID:0050915 {source="MONDO:equivalentTo"} xref: NCIT:C5546 {source="MONDO:equivalentTo"} xref: SCTID:399730005 {source="MONDO:kboom-pr-0.78/0.39/0.84", source="MONDO:equivalentTo"} xref: UMLS:C1302652 {source="NCIT:C5546", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002165 {source="DOID:0050915", source="MONDO:Redundant", source="NCIT:C5546", source="linkedlifedata"} ! rectal neoplasm +is_a: MONDO:0002165 {source="DOID:0050915", source="MONDO:Redundant", source="NCIT:C5546", source="linkedlifedata", source="linkedlifedata/inferred"} ! rectal neoplasm is_a: MONDO:0005484 {source="MONDO:Entailed", source="NCIT:C5546", source="linkedlifedata"} ! colorectal adenoma intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0001052 ! rectum @@ -5896,9 +5980,9 @@ xref: EFO:1001965 {source="MONDO:equivalentTo"} xref: NCIT:C102872 {source="MONDO:equivalentTo"} xref: SCTID:408649007 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"} xref: UMLS:C1319317 {source="MONDO:equivalentTo"} -is_a: MONDO:0005096 {source="DOID:0050921", source="MONDO:Entailed", source="linkedlifedata"} ! squamous cell carcinoma -is_a: MONDO:0005517 {source="DOID:0050921", source="MONDO:Redundant"} ! pharynx cancer -is_a: MONDO:0010150 {source="NCIT:C102872"} ! head and neck squamous cell carcinoma +is_a: MONDO:0005096 {source="DOID:0050921", source="MONDO:Entailed", source="NCIT:C102872/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! squamous cell carcinoma +is_a: MONDO:0005517 {source="DOID:0050921", source="EFO:1001965", source="MONDO:Redundant", source="NCIT:C102872/inferred"} ! pharynx cancer +is_a: MONDO:0010150 {source="NCIT:C102872", source="linkedlifedata"} ! head and neck squamous cell carcinoma is_a: MONDO:0021345 {source="NCIT:C102872"} ! carcinoma of pharynx intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0001042 ! chordate pharynx @@ -6023,13 +6107,15 @@ synonym: "ovarian clear cell carcinoma" RELATED [DOID:0050934] xref: DOID:0050934 {source="MONDO:generalized-by-cjm", source="MONDO:equivalentTo"} xref: NCIT:C40077 {source="MONDO:equivalentTo"} xref: UMLS:C1518230 {source="NCIT:C40077", source="MONDO:equivalentTo"} -is_a: MONDO:0018364 {source="NCIT:C40077"} ! malignant epithelial tumor of ovary +is_a: MONDO:0018364 {source="DOID:0050934/inferred", source="NCIT:C40077"} ! malignant epithelial tumor of ovary is_a: MONDO:0021144 {source="NCIT:C40077"} ! ovarian clear cell tumor [Term] id: MONDO:0000549 name: cervical neuroblastoma def: "A relatively uncommon neuroblastoma that is found in the neck." [PMID:23120455] +synonym: "neck neuroblastoma" EXACT [MONDO:design_pattern] +synonym: "neuroblastoma of neck" EXACT [MONDO:design_pattern] xref: DOID:0050935 {source="MONDO:equivalentTo"} is_a: MONDO:0002749 {source="DOID:0050935"} ! extracranial neuroblastoma intersection_of: MONDO:0005072 ! neuroblastoma @@ -6114,7 +6200,7 @@ xref: UMLS:C1263762 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo" xref: UMLS:C1299237 {source="ONCOTREE:ECAD"} xref: UMLS:C4289591 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"} is_a: MONDO:0004259 {source="DOID:0050940", source="MONDO:Entailed", source="MONDOLEX:0000554", source="NCIT:C127907"} ! endocervical carcinoma -is_a: MONDO:0005153 {source="MONDOLEX:0000554", source="NCIT:C127907", source="ONCOTREE:ECAD", source="linkedlife"} ! cervical adenocarcinoma +is_a: MONDO:0005153 {source="MONDOLEX:0000554", source="NCIT:C127907", source="ONCOTREE:ECAD", source="linkedlifedata"} ! cervical adenocarcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0000458 ! endocervix @@ -6225,6 +6311,7 @@ replaced_by: MONDO:0007361 id: MONDO:0000568 name: autoimmune disease of central nervous system def: "A hypersensitivity reaction type II disease that involves the central nervous system." [MONDO:patterns/location] +synonym: "central nervous system autoimmune disease" EXACT [MONDO:design_pattern] synonym: "central nervous system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060004 {source="MONDO:equivalentTo"} is_a: MONDO:0002602 {source="DOID:0060004", source="MONDO:Entailed", source="MONDOLEX:0000568"} ! central nervous system disease @@ -6236,6 +6323,7 @@ intersection_of: disease_has_location UBERON:0001017 ! central nervous system id: MONDO:0000569 name: autoimmune disease of endocrine system def: "A hypersensitivity reaction type II disease that involves the endocrine system." [MONDO:patterns/location] +synonym: "endocrine system autoimmune disease" EXACT [MONDO:design_pattern] synonym: "endocrine system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060005 {source="MONDO:equivalentTo"} xref: ICD9:279.49 {source="i2s", source="MONDO:relatedTo"} @@ -6346,6 +6434,7 @@ replaced_by: MONDO:0015696 id: MONDO:0000586 name: autoimmune disease of exocrine system def: "A hypersensitivity reaction type II disease that involves the exocrine system." [MONDO:patterns/location] +synonym: "exocrine system autoimmune disease" EXACT [MONDO:design_pattern] synonym: "exocrine system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060029 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="DOID:0060029", source="MONDO:Entailed"} ! autoimmune disease @@ -6367,7 +6456,9 @@ intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity id: MONDO:0000588 name: autoimmune disease of gastrointestinal tract def: "A hypersensitivity reaction type II disease that involves the alimentary part of gastrointestinal system." [MONDO:patterns/location] +synonym: "alimentary part of gastrointestinal system autoimmune disease" EXACT [MONDO:design_pattern] synonym: "alimentary part of gastrointestinal system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] +synonym: "autoimmune disease of alimentary part of gastrointestinal system" EXACT [MONDO:design_pattern] xref: DOID:0060031 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="DOID:0060031", source="MONDO:Entailed"} ! autoimmune disease intersection_of: MONDO:0007179 ! autoimmune disease @@ -6377,6 +6468,7 @@ intersection_of: disease_has_location UBERON:0005409 ! alimentary part of gastro id: MONDO:0000589 name: autoimmune disease of musculoskeletal system def: "A hypersensitivity reaction type II disease that involves the musculoskeletal system." [MONDO:patterns/location] +synonym: "musculoskeletal system autoimmune disease" EXACT [MONDO:design_pattern] synonym: "musculoskeletal system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060032 {source="MONDO:equivalentTo"} is_a: MONDO:0002081 {source="DOID:0060032", source="MONDO:Entailed"} ! musculoskeletal system disease @@ -6388,6 +6480,7 @@ intersection_of: disease_has_location UBERON:0002204 ! musculoskeletal system id: MONDO:0000590 name: autoimmune disease of peripheral nervous system def: "A hypersensitivity reaction type II disease that involves the peripheral nervous system." [MONDO:patterns/location] +synonym: "peripheral nervous system autoimmune disease" EXACT [MONDO:design_pattern] synonym: "peripheral nervous system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060033 {source="MONDO:equivalentTo"} is_a: MONDO:0002977 {source="DOID:0060033", source="MONDO:Entailed", source="MONDOLEX:0000590"} ! autoimmune disease of the nervous system @@ -6467,7 +6560,7 @@ synonym: "Sex Deviations" RELATED [MESH:D010262] xref: DOID:0060044 {source="MONDO:equivalentTo"} xref: MESH:D010262 {source="MONDO:equivalentTo"} xref: SCTID:50299009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.73"} -is_a: MONDO:0000595 {source="DOID:0060044", source="MONDO:Redundant", source="linkedlifedata"} ! sexual disorder +is_a: MONDO:0000595 {source="DOID:0060044", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! sexual disorder is_a: MONDO:0000947 {source="MONDO:cjm", source="linkedlifedata"} ! psychosexual disorder is_a: MONDO:0002025 {source="MESH:D010262", source="MONDO:Redundant"} ! psychiatric disorder @@ -6483,7 +6576,7 @@ xref: GARD:0007117 {source="MONDO:equivalentTo"} xref: MESH:D016735 {source="MONDO:equivalentTo"} xref: SCTID:95637005 {source="MONDO:equivalentTo"} xref: UMLS:C0085277 {source="GARD:0007117"} -is_a: MONDO:0002103 {source="DOID:0060045"} ! factitious disorder +is_a: MONDO:0002103 {source="DOID:0060045", source="linkedlifedata"} ! factitious disorder property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7117/munchausen-by-proxy-syndrome xsd:anyURI {source="GARD:0007117"} [Term] @@ -6516,6 +6609,8 @@ is_a: MONDO:0012000 {source="DOID:0060048", source="EFO:1001903"} ! specific pho id: MONDO:0000601 name: autoimmune disease of urogenital tract def: "A hypersensitivity reaction type II disease that involves the genitourinary system." [MONDO:patterns/location] +synonym: "autoimmune disease of genitourinary system" EXACT [MONDO:design_pattern] +synonym: "genitourinary system autoimmune disease" EXACT [MONDO:design_pattern] synonym: "genitourinary system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060049 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="DOID:0060049", source="MONDO:Entailed"} ! autoimmune disease @@ -6526,6 +6621,7 @@ intersection_of: disease_has_location UBERON:0004122 ! genitourinary system id: MONDO:0000602 name: autoimmune disease of blood def: "A hypersensitivity reaction type II disease that involves the blood." [MONDO:patterns/location] +synonym: "blood autoimmune disease" EXACT [MONDO:design_pattern] synonym: "blood hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060050 {source="MONDO:equivalentTo"} is_a: MONDO:0007179 {source="DOID:0060050", source="MONDO:Entailed"} ! autoimmune disease @@ -6536,6 +6632,7 @@ intersection_of: disease_has_location UBERON:0000178 ! blood id: MONDO:0000603 name: autoimmune disease of cardiovascular system def: "A hypersensitivity reaction type II disease that involves the cardiovascular system." [MONDO:patterns/location] +synonym: "cardiovascular system autoimmune disease" EXACT [MONDO:design_pattern] synonym: "cardiovascular system hypersensitivity reaction type II disease" EXACT [MONDO:patterns/location] xref: DOID:0060051 {source="MONDO:equivalentTo"} is_a: MONDO:0004995 {source="DOID:0060051", source="MONDO:Entailed"} ! cardiovascular disease @@ -6559,7 +6656,7 @@ xref: EFO:1002003 {source="MONDO:equivalentTo"} xref: NCIT:C3114 {source="MONDO:equivalentTo"} xref: SCTID:473010000 {source="MONDO:equivalentTo"} xref: UMLS:C0020517 {source="NCIT:C3114"} -is_a: MONDO:0005046 {source="NCIT:C3114"} ! immune system disease +is_a: MONDO:0005046 {source="DOID:0060056", source="EFO:1002003", source="NCIT:C3114"} ! immune system disease intersection_of: MONDO:0005046 ! immune system disease intersection_of: disease_has_basis_in_disruption_of GO:0002524 ! hypersensitivity @@ -6625,7 +6722,7 @@ xref: Orphanet:209886 {source="DOID:0060062", source="MONDO:superClassOf"} xref: Orphanet:217330 {source="DOID:0060062", source="MONDO:superClassOf"} xref: SCTID:46785007 {source="MONDO:kboom-pr-1.00/0.79/8.63", source="MONDO:equivalentTo"} xref: UMLS:C0268113 {source="GARD:0000067"} -is_a: MONDO:0005240 {source="DOID:0060062"} ! kidney disease +is_a: MONDO:0005240 {source="DOID:0060062", source="MESH:C537696", source="linkedlifedata/inferred"} ! kidney disease relationship: disease_has_feature HP:0001997 ! Gout relationship: disease_has_feature HP:0002149 ! Hyperuricemia @@ -6685,18 +6782,22 @@ replaced_by: MONDO:0006513 [Term] id: MONDO:0000615 name: progesterone-receptor positive breast cancer -comment: Editor note: check why not in NCIT; not also that triple-positive should be classified here +comment: Editor note: check why not in NCIT; note also that triple-positive should be classified here xref: DOID:0060077 {source="MONDO:equivalentTo"} is_a: MONDO:0006116 {source="MONDO:cjm"} ! breast carcinoma by gene expression profile is_a: MONDO:0007254 {source="DOID:0060077"} ! breast cancer +intersection_of: MONDO:0007254 ! breast cancer +intersection_of: disease_has_feature NCIT:C15496 [Term] id: MONDO:0000616 name: progesterone-receptor negative breast cancer -comment: Editor note: check why not in NCIT; not also that triple-negative should be classified here +comment: Editor note: check why not in NCIT; note also that triple-negative should be classified here xref: DOID:0060078 {source="MONDO:equivalentTo"} is_a: MONDO:0006116 {source="MONDO:cjm"} ! breast carcinoma by gene expression profile is_a: MONDO:0007254 {source="DOID:0060078"} ! breast cancer +intersection_of: MONDO:0007254 ! breast cancer +intersection_of: disease_has_feature NCIT:C15497 [Term] id: MONDO:0000617 @@ -6707,9 +6808,12 @@ replaced_by: MONDO:0006244 [Term] id: MONDO:0000618 name: Her2-receptor negative breast cancer +comment: Editor note: check why not in NCIT; note also that triple-negative should be classified here xref: DOID:0060080 {source="MONDO:equivalentTo"} is_a: MONDO:0006116 {source="MONDO:cjm"} ! breast carcinoma by gene expression profile is_a: MONDO:0007254 {source="DOID:0060080"} ! breast cancer +intersection_of: MONDO:0007254 ! breast cancer +intersection_of: disease_has_feature NCIT:C68749 [Term] id: MONDO:0000619 @@ -6748,7 +6852,7 @@ synonym: "immune system cancer" EXACT [MONDO:patterns/location] synonym: "malignant immune system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of immune system" EXACT [MONDO:patterns/cancer] xref: DOID:0060083 {source="MONDO:equivalentTo"} -is_a: MONDO:0004992 {source="DOID:0060083", source="MONDO:Entailed", source="MONDOLEX:0000621"} ! cancer +is_a: MONDO:0004992 {source="DOID:0060083", source="DOID:0060083/inferred", source="MONDO:Entailed", source="MONDOLEX:0000621"} ! cancer is_a: MONDO:0005046 {source="DOID:0060083", source="MONDO:Entailed"} ! immune system disease intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002405 ! immune system @@ -6827,8 +6931,8 @@ xref: ICD9:227.9 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C4621 {source="MONDO:equivalentTo"} xref: SCTID:92085000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0347524 {source="NCIT:C4621", source="MONDO:equivalentTo"} -is_a: MONDO:0002082 {source="MONDO:Entailed", source="MONDOLEX:0000627", source="NCIT:C4621", source="linkedlife"} ! endocrine gland neoplasm -is_a: MONDO:0005165 {source="DOID:0060089", source="MONDO:Entailed", source="MONDOLEX:0000627"} ! benign neoplasm +is_a: MONDO:0002082 {source="MONDO:Entailed", source="MONDOLEX:0000627", source="NCIT:C4621", source="linkedlifedata"} ! endocrine gland neoplasm +is_a: MONDO:0005165 {source="DOID:0060089", source="DOID:0060089/inferred", source="MONDO:Entailed", source="MONDOLEX:0000627"} ! benign neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002368 ! endocrine gland @@ -6848,7 +6952,7 @@ name: cardiovascular organ benign neoplasm def: "A benign neoplasm that involves the cardiovascular system." [MONDO:patterns/location] synonym: "cardiovascular system benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060091 {source="MONDO:equivalentTo"} -is_a: MONDO:0005165 {source="DOID:0060091", source="MONDO:Entailed", source="MONDOLEX:0000629"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:0060091", source="DOID:0060091/inferred", source="MONDO:Entailed", source="MONDOLEX:0000629"} ! benign neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0004535 ! cardiovascular system @@ -6858,7 +6962,7 @@ name: immune system organ benign neoplasm def: "A benign neoplasm that involves the immune organ." [MONDO:patterns/location] synonym: "immune organ benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060092 {source="MONDO:equivalentTo"} -is_a: MONDO:0005165 {source="DOID:0060092", source="MONDO:Entailed", source="MONDOLEX:0000630"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:0060092", source="DOID:0060092/inferred", source="MONDO:Entailed", source="MONDOLEX:0000630"} ! benign neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0005057 ! immune organ @@ -6881,8 +6985,8 @@ xref: ICD9:213.9 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C4880 {source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:92027006 {source="MONDO:kboom-pr-0.74/0.37/0.53", source="MONDO:equivalentTo"} xref: UMLS:C0153959 {source="NCIT:C4880"} -is_a: MONDO:0000654 {source="DOID:0060094", source="MONDO:Entailed"} ! benign connective and soft tissue neoplasm -is_a: MONDO:0005381 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! bone disease +is_a: MONDO:0000654 {source="DOID:0060094", source="MONDO:Entailed", source="NCIT:C4880"} ! benign connective and soft tissue neoplasm +is_a: MONDO:0005381 {source="DOID:0060094", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone disease intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002481 ! bone tissue @@ -6947,7 +7051,7 @@ xref: ICD9:229.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4565 {source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:255059002 {source="MONDO:equivalentTo"} xref: UMLS:C0346440 {source="NCIT:C4565", source="MONDO:equivalentTo"} -is_a: MONDO:0005165 {source="DOID:0060097", source="MONDO:Entailed", source="MONDOLEX:0000634"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:0060097", source="DOID:0060097/inferred", source="MONDO:Entailed", source="MONDOLEX:0000634"} ! benign neoplasm is_a: MONDO:0021350 {source="MONDO:Entailed", source="MONDOLEX:0000634", source="NCIT:C4565", source="linkedlifedata"} ! neoplasm of thorax intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000915 ! thoracic segment of trunk @@ -6965,7 +7069,7 @@ def: "A benign neoplasm that involves the musculoskeletal system." [MONDO:patter synonym: "musculoskeletal system benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060099 {source="MONDO:equivalentTo"} is_a: MONDO:0002081 {source="DOID:0060099", source="MONDO:Entailed"} ! musculoskeletal system disease -is_a: MONDO:0005165 {source="DOID:0060099", source="MONDO:Entailed", source="MONDOLEX:0000636"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:0060099", source="DOID:0060099/inferred", source="MONDO:Entailed", source="MONDOLEX:0000636"} ! benign neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002204 ! musculoskeletal system @@ -6980,7 +7084,7 @@ synonym: "musculoskeletal system cancer" EXACT [MONDO:patterns/location] synonym: "skeletal system cancer" EXACT [DOID:0060100] xref: DOID:0060100 {source="MONDO:equivalentTo"} is_a: MONDO:0002081 {source="DOID:0060100", source="MONDO:Entailed"} ! musculoskeletal system disease -is_a: MONDO:0004992 {source="DOID:0060100", source="MONDO:Entailed", source="MONDOLEX:0000637"} ! cancer +is_a: MONDO:0004992 {source="DOID:0060100", source="DOID:0060100/inferred", source="MONDO:Entailed", source="MONDOLEX:0000637"} ! cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002204 ! musculoskeletal system @@ -7028,6 +7132,7 @@ synonym: "CNS embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5 synonym: "CNS PNET" EXACT [NCIT:C5398] synonym: "CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5398] synonym: "CNS primitive neuroectodermal tumor" EXACT [NCIT:C5398] +synonym: "primitive neuroectodermal tumor of central nervous system" EXACT [MONDO:design_pattern] xref: DOID:0060103 {source="MONDO:equivalentTo"} xref: NCIT:C5398 {source="MONDO:equivalentTo"} xref: UMLS:C3887678 {source="NCIT:C5398"} @@ -7076,7 +7181,7 @@ xref: NCIT:C3611 {source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:92486005 {source="MONDO:equivalentTo"} xref: UMLS:C0154003 {source="NCIT:C3611", source="MONDO:equivalentTo"} is_a: MONDO:0000624 {source="DOID:0060109", source="MONDO:Entailed", source="NCIT:C3611"} ! benign female reproductive system neoplasm -is_a: MONDO:0021049 {source="MONDO:Entailed", source="NCIT:C3611", source="OWLReasoner:2017"} ! vulvar neoplasm +is_a: MONDO:0021049 {source="MONDO:Entailed", source="NCIT:C3611", source="OWLReasoner:2017", source="linkedlifedata"} ! vulvar neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva @@ -7105,7 +7210,7 @@ xref: NCIT:C3607 {source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:92056006 {source="MONDO:equivalentTo"} xref: UMLS:C0153997 {source="NCIT:C3607", source="MONDO:equivalentTo"} is_a: MONDO:0000624 {source="DOID:0060110", source="MONDO:Redundant", source="NCIT:C3607/inferred"} ! benign female reproductive system neoplasm -is_a: MONDO:0000632 {source="MONDO:Entailed", source="NCIT:C3607"} ! uterine benign neoplasm +is_a: MONDO:0000632 {source="MONDO:Entailed", source="NCIT:C3607", source="linkedlifedata"} ! uterine benign neoplasm is_a: MONDO:0021230 {source="MONDO:Entailed", source="NCIT:C3607", source="OWLReasoner:Elk-2018-01-09"} ! uterine cervix neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -7156,7 +7261,7 @@ xref: NCIT:C2895 {source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:92260003 {source="MONDO:equivalentTo"} xref: UMLS:C0004997 {source="NCIT:C2895"} is_a: MONDO:0000624 {source="DOID:0060112", source="MONDO:Entailed", source="NCIT:C2895"} ! benign female reproductive system neoplasm -is_a: MONDO:0021068 {source="MONDO:Entailed", source="NCIT:C2895", source="OWLReasoner:2017"} ! ovarian neoplasm +is_a: MONDO:0021068 {source="MONDO:Entailed", source="NCIT:C2895", source="OWLReasoner:2017", source="linkedlifedata"} ! ovarian neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -7204,8 +7309,8 @@ xref: ICD9:225.9 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C4789 {source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:92247009 {source="MONDO:kboom-pr-0.71/0.37/0.22", source="MONDO:equivalentTo"} xref: UMLS:C0497550 {source="NCIT:C4789", source="MONDO:equivalentTo"} -is_a: MONDO:0005071 {source="MONDO:Redundant", source="NCIT:C4789/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! nervous system disorder -is_a: MONDO:0005165 {source="DOID:0060115", source="MONDO:Entailed", source="MONDOLEX:0000648"} ! benign neoplasm +is_a: MONDO:0005071 {source="DOID:0060115", source="MONDO:Redundant", source="NCIT:C4789/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! nervous system disorder +is_a: MONDO:0005165 {source="DOID:0060115", source="DOID:0060115/inferred", source="MONDO:Entailed", source="MONDOLEX:0000648"} ! benign neoplasm is_a: MONDO:0021248 {source="MONDO:Entailed", source="MONDOLEX:0000648", source="NCIT:C4789", source="OWLReasoner:Elk-2018-01-09"} ! nervous system neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001016 ! nervous system @@ -7233,7 +7338,7 @@ synonym: "peritoneum benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060117 {source="MONDO:equivalentTo"} xref: NCIT:C8612 {source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C0496874 {source="NCIT:C8612", source="MONDO:equivalentTo"} -is_a: MONDO:0005165 {source="DOID:0060117", source="MONDO:Entailed", source="MONDOLEX:0000650"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:0060117", source="DOID:0060117/inferred", source="MONDO:Entailed", source="MONDOLEX:0000650"} ! benign neoplasm is_a: MONDO:0006901 {source="MONDO:Entailed", source="MONDOLEX:0000650", source="NCIT:C8612"} ! peritoneal neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002358 ! peritoneum @@ -7248,6 +7353,7 @@ synonym: "disorder of thorax" EXACT [] synonym: "thoracic disease" EXACT [NCIT:C35742] synonym: "thoracic disorder" EXACT [NCIT:C35742] synonym: "thoracic segment of trunk disease" EXACT [MONDO:patterns/location] +synonym: "thoracic segment of trunk disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:0060118 {source="MONDO:equivalentTo"} xref: MESH:D013896 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C35742 {source="NCIT:C35742", source="MONDO:equivalentTo"} @@ -7255,7 +7361,7 @@ xref: SCTID:118946009 {source="MONDO:equivalentTo"} xref: SCTID:609622007 {source="MONDO:equivalentTo"} xref: UMLS:C0039978 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C35742", source="MONDO:equivalentTo"} xref: UMLS:C3661979 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0024505 {source="MONDO:metaclass"} ! disorder by anatomical region +is_a: MONDO:0024505 {source="MONDO:metaclass", source="linkedlifedata", source="linkedlifedata/inferred"} ! disorder by anatomical region intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000915 ! thoracic segment of trunk @@ -7266,7 +7372,7 @@ def: "A benign neoplasm that involves the integumental system." [MONDO:patterns/ synonym: "integumental system benign neoplasm" EXACT [MONDO:patterns/location] xref: DOID:0060121 {source="MONDO:equivalentTo"} is_a: MONDO:0002051 {source="DOID:0060121", source="MONDO:Entailed"} ! integumentary system disease -is_a: MONDO:0005165 {source="DOID:0060121", source="MONDO:Entailed", source="MONDOLEX:0000652"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:0060121", source="DOID:0060121/inferred", source="MONDO:Entailed", source="MONDOLEX:0000652"} ! benign neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002416 ! integumental system @@ -7280,7 +7386,7 @@ synonym: "malignant integumental system neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of integumental system" EXACT [MONDO:patterns/cancer] xref: DOID:0060122 {source="MONDO:equivalentTo"} is_a: MONDO:0002051 {source="DOID:0060122", source="MONDO:Entailed"} ! integumentary system disease -is_a: MONDO:0004992 {source="DOID:0060122", source="MONDO:Entailed", source="MONDOLEX:0000653"} ! cancer +is_a: MONDO:0004992 {source="DOID:0060122", source="DOID:0060122/inferred", source="MONDO:Entailed", source="MONDOLEX:0000653"} ! cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002416 ! integumental system @@ -7589,7 +7695,7 @@ xref: SCTID:25762009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0 xref: UMLS:C0234502 {source="NCIT:C35276"} xref: UMLS:C2930796 {source="DOID:0060155"} is_a: MONDO:0005638 {source="DOID:0060155", source="MONDO:Entailed"} ! agnosia -is_a: MONDO:0021084 {source="MONDO:Entailed", source="NCIT:C35276/inferred", source="NCIT:C53534", source="linkedlife/inferred"} ! vision disorder +is_a: MONDO:0021084 {source="MONDO:Entailed", source="NCIT:C35276/inferred", source="NCIT:C53534", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! vision disorder intersection_of: MONDO:0005638 ! agnosia intersection_of: disease_has_basis_in_disruption_of GO:0007601 ! visual perception relationship: disease_has_major_feature HP:0030222 ! Visual agnosia @@ -7667,7 +7773,7 @@ xref: NCIT:C101334 {source="MONDO:kboom-pr-1.00/0.80/9.79", source="MONDO:equiva xref: Orphanet:289899 {source="MONDO:equivalentTo"} xref: UMLS:C1263739 {source="NCIT:C101334", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C1829844 {source="GARD:0009433"} -is_a: MONDO:0019052 {source="MONDO:Redundant", source="NCIT:C101334", source="Orphanet:289899/inferred"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:0060159/inferred", source="MONDO:Redundant", source="NCIT:C101334", source="Orphanet:289899/inferred"} ! inborn errors of metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0006082 ! organic acid metabolic process property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9433/organic-acidemia xsd:anyURI {source="GARD:0009433"} @@ -7689,7 +7795,7 @@ xref: DOID:0060163 {source="MONDO:equivalentTo"} xref: ICD10:F45.22 {source="MONDO:equivalentTo"} xref: MESH:D057215 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:83482000 {source="MONDO:kboom-pr-0.92/0.83/0.20", source="MONDO:equivalentTo"} -is_a: MONDO:0003117 {source="DOID:0060163", source="MESH:D057215", source="linkedlifedata"} ! somatoform disorder +is_a: MONDO:0003117 {source="DOID:0060163", source="MESH:D057215", source="linkedlifedata", source="linkedlifedata/inferred"} ! somatoform disorder [Term] id: MONDO:0000691 @@ -7713,7 +7819,7 @@ synonym: "bipolar ll disorder" RELATED [DOID:0060166] xref: DOID:0060166 {source="MONDO:equivalentTo"} xref: ICD9:296.89 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:83225003 {source="MONDO:equivalentTo"} -is_a: MONDO:0004985 {source="DOID:0060166", source="linkedlife"} ! bipolar disorder +is_a: MONDO:0004985 {source="DOID:0060166", source="linkedlifedata"} ! bipolar disorder [Term] id: MONDO:0000694 @@ -7730,7 +7836,7 @@ xref: GARD:0009434 {source="MONDO:equivalentTo"} xref: ICD9:296.99 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D016574 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:247803002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} -is_a: MONDO:0002050 {source="DOID:0060167", source="MESH:D016574", source="linkedlife/inferred"} ! depressive disorder +is_a: MONDO:0002050 {source="DOID:0060167", source="MESH:D016574", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! depressive disorder [Term] id: MONDO:0000695 @@ -7788,8 +7894,8 @@ xref: SCTID:194493009 {source="DOID:0060178"} xref: SCTID:95656000 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0338484 {source="NCIT:C117009"} xref: UMLS:C0477373 {source="DOID:0060178"} -is_a: MONDO:0005277 {source="NCIT:C117009"} ! migraine disorder -is_a: MONDO:0005475 {source="DOID:0060178", source="MONDO:Redundant", source="linkedlifedata"} ! migraine with aura +is_a: MONDO:0005277 {source="DOID:0060178/inferred", source="NCIT:C117009"} ! migraine disorder +is_a: MONDO:0005475 {source="DOID:0060178", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! migraine with aura is_a: MONDO:0023310 {source="MONDO:cjm", source="linkedlifedata"} ! hemiplegic migraine intersection_of: MONDO:0023310 ! hemiplegic migraine intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -7893,8 +7999,8 @@ xref: UMLS:C0343386 {source="NCIT:C35286"} xref: UMLS:C1257843 {source="DOID:0060185"} xref: UMLS:C1257844 {source="DOID:0060185"} xref: UMLS:C1257845 {source="DOID:0060185"} -is_a: MONDO:0005113 {source="MESH:D004761/inferred", source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata"} ! bacterial infectious disease -is_a: MONDO:0005292 {source="DOID:0060185", source="MONDO:Entailed", source="NCIT:C35286/inferred", source="linkedlifedata"} ! colitis (disease) +is_a: MONDO:0005113 {source="EFO:0009130", source="MESH:D004761/inferred", source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0005292 {source="DOID:0060185", source="MONDO:Entailed", source="NCIT:C35286/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! colitis (disease) intersection_of: MONDO:0005292 ! colitis (disease) intersection_of: realized_in_response_to_stimulus NCBITaxon:1496 ! Clostridioides difficile relationship: realized_in_response_to_stimulus NCBITaxon:1496 {source="OWLReasoner:Elk-2018", source="Wikidata"} ! Clostridioides difficile @@ -7954,8 +8060,8 @@ xref: NCIT:C84782 {source="DOID:0060189"} xref: NDFRT:N0000001662 {source="DOID:0060189"} xref: SCTID:52457000 {source="DOID:0060189", source="MONDO:kboom-pr-0.92/0.66/1.65", source="MONDO:equivalentTo"} xref: UMLS:C0020877 {source="DOID:0060189", source="MONDO:equivalentTo"} -is_a: MONDO:0005011 {source="DOID:0060189", source="MONDO:Redundant"} ! Crohn disease -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0005011 {source="DOID:0060189", source="MONDO:Redundant", source="NCIT:C35329/inferred"} ! Crohn disease +is_a: MONDO:0021166 {source="MONDO:Redundant", source="NCIT:C35329/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0005011 ! Crohn disease intersection_of: disease_has_inflammation_site UBERON:0002116 ! ileum @@ -8049,7 +8155,7 @@ def: "A metabolic metabolic disorder characterized by excess urinary excretion o xref: ICD9:277.2 {source="i2s", source="MONDO:relatedTo"} xref: OMIMPS:278300 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:190919008 {source="MONDO:kboom-pr-0.88/0.76/0.06", source="MONDO:equivalentTo"} -is_a: MONDO:0005066 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! metabolic disease +is_a: MONDO:0005066 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease intersection_of: MONDO:0005066 ! metabolic disease intersection_of: disease_disrupts GO:0046110 ! xanthine metabolic process @@ -8058,6 +8164,8 @@ id: MONDO:0000722 name: non-syndromic synpolydactyly def: "A synpolydactyly that is not part of a larger syndrome." [MONDO:patterns/isolated] synonym: "isolated synpolydactyly" EXACT [] +synonym: "syndactyly type 2" EXACT [DOID:0060242] +synonym: "synpolydactyly" RELATED [DOID:0060242] xref: DOID:0060242 {source="MONDO:equivalentTo"} xref: MESH:C538153 {source="DOID:0060242", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: NCIT:C75003 {source="DOID:0060242", source="MONDO:subClassOf", source="MONDO:relatedTo"} @@ -8105,8 +8213,9 @@ xref: UMLS:C0751527 {source="DOID:0060243"} xref: UMLS:C0751528 {source="DOID:0060243"} xref: UMLS:C0751529 {source="DOID:0060243"} xref: UMLS:C3489627 {source="DOID:0060243"} -is_a: MONDO:0002903 {source="DOID:0060243"} ! articulation disorder +is_a: MONDO:0004730 {source="DOID:0060243/inferred"} ! speech disorder is_a: MONDO:0004750 {source="MONDO:Redundant", source="NCIT:C35043"} ! language disorder +relationship: excluded_subClassOf MONDO:0002903 {source="DOID:0060243"} ! articulation disorder [Term] id: MONDO:0000724 @@ -8224,12 +8333,13 @@ xref: OMIM:217300 {source="DOID:0060287", source="MONDO:superClassOf"} xref: OMIMPS:121400 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:53691 {source="DOID:0060287", source="MONDO:superClassOf"} xref: SCTID:204145006 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} -is_a: MONDO:0000942 {source="DOID:0060287", source="linkedlife/inferred"} ! corneal disease +is_a: MONDO:0000942 {source="DOID:0060287", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease [Term] id: MONDO:0000734 name: Ohdo syndrome and variants synonym: "Ohdo blepharophimosis syndrome" NARROW [DOID:0060289] +synonym: "Ohdo syndrome" RELATED [DOID:0060289] xref: DOID:0060289 {source="MONDO:equivalentTo"} xref: MESH:C536232 {source="DOID:0060289"} xref: OMIM:249620 {source="DOID:0060289", source="MONDO:superClassOf"} @@ -8265,8 +8375,8 @@ xref: Orphanet:241 {source="DOID:0060304", source="MONDO:equivalentTo", source=" xref: SCTID:239082002 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C1306229 {source="ORDO:241/e", source="Orphanet:241", source="MONDO:equivalentTo"} xref: UMLS:C2930995 {source="DOID:0060304", source="MONDO:equivalentTo"} -is_a: MONDO:0006600 {source="DOID:0060304", source="MESH:C535730"} ! pigmentation disease -is_a: MONDO:0019289 {source="Orphanet:241", source="linkedlifedata"} ! hyperpigmentation of the skin +is_a: MONDO:0006600 {source="DOID:0060304", source="MESH:C535730", source="linkedlifedata/inferred"} ! pigmentation disease +is_a: MONDO:0019289 {source="Orphanet:241", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin property_value: confidence "0.588235294117647" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1996/dyschromatosis-universalis-hereditaria xsd:anyURI {source="GARD:0001996"} @@ -8296,9 +8406,9 @@ xref: MedDRA:10051962 {source="DOID:0060310"} xref: NCIT:C128385 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} xref: SCTID:300932000 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0042174 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C128385"} -is_a: MONDO:0004867 {source="DOID:0060310", source="linkedlifedata"} ! upper respiratory tract disease -is_a: MONDO:0006858 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! mouth disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0004867 {source="DOID:0060310", source="linkedlifedata", source="linkedlifedata/inferred"} ! upper respiratory tract disease +is_a: MONDO:0006858 {source="MONDO:Entailed", source="NCIT:C128385/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001734 ! palatine uvula @@ -8315,7 +8425,7 @@ xref: MedDRA:10001229 {source="DOID:0060311"} xref: SCTID:111591002 {source="DOID:0060311", source="MONDO:kboom-pr-1.00/0.75/6.62", source="MONDO:equivalentTo"} xref: SCTID:195795005 {source="DOID:0060311"} xref: UMLS:C0149825 {source="DOID:0060311", source="MONDO:equivalentTo"} -is_a: MONDO:0004867 {source="DOID:0060311", source="linkedlifedata"} ! upper respiratory tract disease +is_a: MONDO:0004867 {source="DOID:0060311", source="linkedlifedata", source="linkedlifedata/inferred"} ! upper respiratory tract disease relationship: disease_has_location UBERON:0001734 ! palatine uvula [Term] @@ -8325,6 +8435,7 @@ def: "An inflammatory process affecting the lip." [NCIT:P378] synonym: "angle of oral opening cheilitis" EXACT [MONDO:patterns/location] synonym: "angular cheilosis" EXACT [DOID:0060312] synonym: "angular stomatitis" EXACT [DOID:0060312] +synonym: "cheilitis of angle of oral opening" EXACT [MONDO:design_pattern] synonym: "cheilosis" EXACT [DOID:0060312] synonym: "commissural cheilitis" EXACT [DOID:0060312] synonym: "Perleche" EXACT [NCIT:C112198] @@ -8368,7 +8479,7 @@ xref: SCTID:196569003 {source="DOID:0060315"} xref: SCTID:414952002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:0060315", source="MONDO:equivalentTo"} xref: SCTID:58918007 {source="DOID:0060315"} xref: UMLS:C0206186 {source="DOID:0060315", source="MONDO:equivalentTo"} -is_a: MONDO:0006858 {source="DOID:0060315", source="MESH:D017733/inferred", source="linkedlifedata"} ! mouth disease +is_a: MONDO:0006858 {source="DOID:0060315", source="MESH:D017733/inferred", source="NCIT:C3722/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease relationship: disease_arises_from_feature MONDO:0012268 ! AIDS [Term] @@ -8388,8 +8499,8 @@ xref: SCTID:155618005 {source="DOID:0060317"} xref: SCTID:196113000 {source="DOID:0060317"} xref: SCTID:73452002 {source="DOID:0060317", source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"} xref: UMLS:C0024110 {source="DOID:0060317", source="NCIT:C99090", source="MONDO:equivalentTo"} -is_a: MONDO:0005227 {source="EFO:1001362", source="MESH:D008169", source="NCIT:C99090", source="linkedlifedata"} ! abscess -is_a: MONDO:0005275 {source="DOID:0060317", source="MESH:D008169", source="linkedlife"} ! lung disease +is_a: MONDO:0005227 {source="EFO:1001362", source="MESH:D008169", source="NCIT:C99090", source="linkedlifedata", source="linkedlifedata/inferred"} ! abscess +is_a: MONDO:0005275 {source="DOID:0060317", source="MESH:D008169", source="NCIT:C99090/inferred", source="linkedlifedata"} ! lung disease [Term] id: MONDO:0000745 @@ -8418,8 +8529,8 @@ xref: SCTID:410430005 {source="DOID:0060319"} xref: UMLS:C0018790 {source="DOID:0060319", source="MONDO:equivalentTo"} xref: UMLS:C0444720 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C0600228 {source="DOID:0060319"} -is_a: MONDO:0005267 {source="MESH:D006323", source="linkedlife/inferred"} ! heart disease -is_a: MONDO:0007263 {source="linkedlife"} ! cardiac rhythm disease +is_a: MONDO:0005267 {source="DOID:0060319/inferred", source="MESH:D006323", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! heart disease +is_a: MONDO:0007263 {source="linkedlifedata"} ! cardiac rhythm disease relationship: excluded_subClassOf MONDO:0005009 {source="DOID:0060319"} ! congestive heart failure [Term] @@ -8511,8 +8622,8 @@ xref: SCTID:155230007 {source="DOID:0060322"} xref: SCTID:194309002 {source="DOID:0060322"} xref: SCTID:52404001 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:0060322", source="MONDO:equivalentTo"} xref: UMLS:C0024904 {source="DOID:0060322", source="NCIT:C128368", source="MONDO:equivalentTo"} -is_a: MONDO:0002614 {source="DOID:0060322", source="linkedlifedata"} ! bone inflammation disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C128368", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0002614 {source="DOID:0060322", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone inflammation disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C128368", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0011220 ! mastoid process of temporal bone @@ -8523,7 +8634,7 @@ def: "A breast disease characterized by a collection of pus in the breast." [DOI xref: DOID:0060323 {source="MONDO:equivalentTo"} xref: SCTID:28432003 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"} xref: UMLS:C0151463 {source="MONDO:equivalentTo"} -is_a: MONDO:0002657 {source="DOID:0060323", source="linkedlifedata"} ! breast disease +is_a: MONDO:0002657 {source="DOID:0060323", source="linkedlifedata", source="linkedlifedata/inferred"} ! breast disease [Term] id: MONDO:0000750 @@ -8569,7 +8680,7 @@ xref: SCTID:65576009 {source="MONDO:kboom-pr-1.00/0.76/7.65", source="MONDO:equi xref: UMLS:C0007855 {source="NCIT:C2939", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C0153996 {source="DOID:0060325"} xref: UMLS:C0347493 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002256 {source="DOID:0060325", source="MONDO:Redundant", source="linkedlifedata"} ! cervix disease +is_a: MONDO:0002256 {source="DOID:0060325", source="MONDO:Redundant", source="NCIT:C2939", source="linkedlifedata"} ! cervix disease is_a: MONDO:0004701 {source="MONDO:Entailed", source="NCIT:C2939"} ! uterine polyp intersection_of: MONDO:0005079 ! polyp intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -8671,7 +8782,7 @@ xref: SCTID:58213005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:0060 xref: UMLS:C0085434 {source="NCIT:C3477", source="DOID:0060345", source="MONDO:equivalentTo"} is_a: MONDO:0005664 {source="DOID:0060345", source="MESH:D016917", source="MONDO:Entailed"} ! bartonellosis is_a: MONDO:0024295 {source="MESH:D016917"} ! skin disease caused by bacterial infection -is_a: MONDO:0024461 {source="MESH:D016917", source="MONDO:Entailed", source="NCIT:C3477"} ! angiomatosis +is_a: MONDO:0024461 {source="MESH:D016917", source="MONDO:Entailed", source="NCIT:C3477", source="linkedlifedata"} ! angiomatosis intersection_of: MONDO:0024461 ! angiomatosis intersection_of: realized_in_response_to_stimulus NCBITaxon:773 ! Bartonella relationship: realized_in_response_to_stimulus NCBITaxon:773 ! Bartonella @@ -8715,10 +8826,12 @@ is_a: MONDO:0018102 {source="DOID:0060440"} ! corneal dystrophy (disease) [Term] id: MONDO:0000764 -name: epithelial-stromal TGFB1 dystrophy -synonym: "epithelial-stromal TGFBI dystrophy" RELATED [DOID:0060441] +name: epithelial-stromal TGFBI dystrophy +def: "Any corneal dystrophy (disease) in which the cause of the disease is a mutation in the MGAT2 gene." [MONDO:design_pattern] xref: DOID:0060441 {source="MONDO:equivalentTo"} is_a: MONDO:0018102 {source="DOID:0060441"} ! corneal dystrophy (disease) +intersection_of: MONDO:0018102 ! corneal dystrophy (disease) +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7045 ! MGAT2 [Term] id: MONDO:0000765 @@ -8729,12 +8842,13 @@ replaced_by: MONDO:0020213 [Term] id: MONDO:0000766 name: corneal endothelial dystrophy +def: "A corneal dystrophy (disease) that involves the corneal epithelium." [MONDO:design_pattern] synonym: "endothelial dystrophy" EXACT [DOID:0060443] xref: COHD:443740 {source="MONDO:equivalentTo"} xref: DOID:0060443 {source="MONDO:equivalentTo"} xref: ICD9:371.57 {source="i2s", source="MONDO:equivalentTo"} xref: SCTID:416960004 {source="MONDO:kboom-pr-0.92/0.83/0.23", source="MONDO:equivalentTo"} -is_a: MONDO:0018102 {source="DOID:0060443", source="linkedlife", source="linkedlifedata"} ! corneal dystrophy (disease) +is_a: MONDO:0018102 {source="DOID:0060443", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal dystrophy (disease) intersection_of: MONDO:0018102 ! corneal dystrophy (disease) intersection_of: disease_has_location UBERON:0001772 ! corneal epithelium @@ -8766,7 +8880,7 @@ xref: DOID:0060495 {source="MONDO:equivalentTo"} xref: MESH:D000067208 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:300913006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0577625 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002497 {source="DOID:0060495", source="MESH:D000067208", source="linkedlifedata"} ! food allergy +is_a: MONDO:0002497 {source="DOID:0060495", source="MESH:D000067208", source="linkedlifedata", source="linkedlifedata/inferred"} ! food allergy relationship: realized_in_response_to_stimulus FOODON:03315468 ! shellfish (whole or flesh) [Term] @@ -8833,7 +8947,7 @@ xref: DOID:0060501 {source="MONDO:equivalentTo"} xref: ICD9:995.3 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:300915004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0577627 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005271 {source="DOID:0060501", source="MONDO:Entailed", source="linkedlifedata"} ! allergic disease +is_a: MONDO:0005271 {source="DOID:0060501", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! allergic disease intersection_of: MONDO:0005271 ! allergic disease intersection_of: realized_in_response_to_stimulus CHEBI:88184 ! metal allergen @@ -8841,6 +8955,8 @@ intersection_of: realized_in_response_to_stimulus CHEBI:88184 ! metal allergen id: MONDO:0000777 name: gastrointestinal allergy def: "A allergic disease that involves the digestive tract." [MONDO:patterns/location] +synonym: "allergic disease of digestive tract" EXACT [MONDO:design_pattern] +synonym: "digestive tract allergic disease" EXACT [MONDO:design_pattern] xref: DOID:0060502 {source="MONDO:equivalentTo"} is_a: MONDO:0005271 {source="DOID:0060502", source="MONDO:Entailed"} ! allergic disease intersection_of: MONDO:0005271 ! allergic disease @@ -9145,7 +9261,7 @@ xref: ICD9:995.3 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:V15.07 {source="i2s", source="MONDO:equivalentTo"} xref: MESH:D020315 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:300916003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} -is_a: MONDO:0005271 {source="DOID:0060532", source="MESH:D020315", source="linkedlifedata"} ! allergic disease +is_a: MONDO:0005271 {source="DOID:0060532", source="MESH:D020315", source="linkedlifedata", source="linkedlifedata/inferred"} ! allergic disease [Term] id: MONDO:0000808 @@ -9165,7 +9281,7 @@ xref: ICD10:D65 {source="DOID:0060538"} xref: MESH:D055665 {source="DOID:0060538", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:13507004 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} is_a: MONDO:0001243 {source="MONDO:cjm", source="linkedlifedata"} ! disseminated intravascular coagulation -is_a: MONDO:0002610 {source="DOID:0060538", source="MESH:D055665", source="linkedlifedata"} ! purpura (disease) +is_a: MONDO:0002610 {source="DOID:0060538", source="MESH:D055665", source="linkedlifedata", source="linkedlifedata/inferred"} ! purpura (disease) [Term] id: MONDO:0000810 @@ -9197,12 +9313,13 @@ synonym: "disease of vertebral column" EXACT [MONDO:patterns/location_top] synonym: "disorder of vertebral column" EXACT [MONDO:patterns/location_top] synonym: "spinal disease" RELATED [DOID:0060564] synonym: "vertebral column disease" EXACT [MONDO:patterns/location] +synonym: "vertebral column disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:0060564 {source="MONDO:equivalentTo"} -xref: ICD9:724.9 {source="linkedlife"} +xref: ICD9:724.9 {source="linkedlifedata"} xref: MESH:D013122 {source="MONDO:equivalentTo"} xref: SCTID:699699005 {source="MONDO:equivalentTo"} xref: UMLS:C0037933 {source="MONDO:equivalentTo"} -is_a: MONDO:0002081 {source="linkedlife"} ! musculoskeletal system disease +is_a: MONDO:0002081 {source="DOID:0060564", source="MESH:D013122/inferred", source="linkedlifedata"} ! musculoskeletal system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001130 ! vertebral column @@ -9215,7 +9332,7 @@ xref: DOID:0060570 {source="MONDO:equivalentTo"} xref: EFO:1001442 {source="MONDO:equivalentTo"} xref: MESH:D014381 {source="MONDO:ontobio", source="DOID:0060570", source="MONDO:equivalentTo"} xref: UMLS:C0041308 {source="MONDO:equivalentTo"} -is_a: MONDO:0018076 {source="DOID:0060570", source="MESH:D014381"} ! tuberculosis +is_a: MONDO:0018076 {source="DOID:0060570", source="EFO:1001442", source="MESH:D014381"} ! tuberculosis intersection_of: MONDO:0018076 ! tuberculosis intersection_of: disease_has_inflammation_site UBERON:0000948 ! heart @@ -9230,6 +9347,7 @@ synonym: "adult B cell ALL" EXACT [NCIT:C9143] synonym: "adult B-cell acute lymphoblastic leukemia" EXACT [DOID:0060592] synonym: "adult B-cell acute Lymphocytic leukemia" EXACT [NCIT:C9143] synonym: "adult B-cell ALL" EXACT [NCIT:C9143] +synonym: "adult B-cell childhood acute lymphoblastic leukemia" EXACT [MONDO:design_pattern] synonym: "adult B-cell lymphocytic leukemia" EXACT [DOID:0060592] synonym: "adult B-lymphoblastic leukemia" EXACT [DOID:0060592] synonym: "adult precursor B-lymphoblastic leukemia" EXACT [NCIT:C9143] @@ -9239,6 +9357,7 @@ synonym: "B cell adult acute Lymphocytic leukemia" EXACT [NCIT:C9143] synonym: "B cell adult ALL" EXACT [NCIT:C9143] synonym: "B-cell adult acute lymphoblastic leukemia" EXACT [NCIT:C9143] synonym: "B-cell adult ALL" EXACT [NCIT:C9143] +synonym: "B-cell childhood acute lymphoblastic leukemia of adults" EXACT [MONDO:design_pattern] xref: DOID:0060592 {source="MONDO:equivalentTo"} xref: EFO:1001935 {source="MONDO:equivalentTo"} xref: NCIT:C9143 {source="DOID:0060592", source="MONDO:kboom-pr-0.96/0.91/0.26", source="MONDO:equivalentTo"} @@ -9281,7 +9400,7 @@ xref: NCIT:C84560 {source="MONDO:kboom-pr-0.92/0.70/1.45", source="MONDO:equival xref: OMIM:206500 {source="DOID:0060668", source="MONDO:superClassOf"} xref: Orphanet:1048 {source="DOID:0060668", source="MONDO:superClassOf"} xref: UMLS:C0002902 {source="NCIT:C84560"} -is_a: MONDO:0002320 {source="DOID:0060668"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="DOID:0060668"} ! congenital nervous system disorder [Term] id: MONDO:0000820 @@ -9294,7 +9413,7 @@ synonym: "familial cavernous angioma" EXACT [DOID:0060669] xref: DOID:0060669 {source="MONDO:equivalentTo"} xref: NCIT:C84626 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equivalentTo"} xref: UMLS:C2919945 {source="NCIT:C84626"} -is_a: MONDO:0002320 {source="NCIT:C4976", source="NCIT:C84626/inferred"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="NCIT:C4976", source="NCIT:C84626/inferred"} ! congenital nervous system disorder relationship: excluded_subClassOf MONDO:0003241 {source="DOID:0060669"} ! central nervous system hemangioma [Term] @@ -9453,10 +9572,39 @@ replaced_by: MONDO:0019040 [Term] id: MONDO:0000839 -name: physical disorder -def: "A disease that has_material_basis_in a genetic abnormality, error with embryonic development, infection or compromised intrauterine environment." [DOID:0080015, http://en.wikipedia.org/wiki/Congenital_disorder] +name: congenital abnormality +def: "Any abnormality, anatomical or biochemical, evident at birth or during the neonatal period." [NCIT:C2849] +synonym: "Birth Defect" EXACT [NCIT:C2849] +synonym: "CM - congenital malformation" RELATED [] +synonym: "Congenital Abnormality" EXACT [NCIT:C2849] +synonym: "congenital abnormality" RELATED [] +synonym: "Congenital Anatomic Abnormality" EXACT [NCIT:C2849] +synonym: "Congenital Anatomical Abnormality" EXACT [NCIT:C2849] +synonym: "Congenital Anomalies of Fetus" EXACT [NCIT:C2849] +synonym: "Congenital Anomaly" EXACT [NCIT:C2849] +synonym: "congenital anomaly" RELATED [] +synonym: "Congenital Anomaly or Birth Defect" EXACT [NCIT:C2849] +synonym: "Congenital Defect" EXACT [NCIT:C2849] +synonym: "CONGENITAL DEFECT/DEFORMITY" EXACT [NCIT:C2849] +synonym: "Congenital Defect/Deformity" EXACT [NCIT:C2849] +synonym: "Congenital Deformity" EXACT [NCIT:C2849] +synonym: "Congenital Malformation" EXACT [NCIT:C2849] +synonym: "congenital malformation" EXACT [] +synonym: "DEFECT/DEFORMITY, CONGENITAL" EXACT [NCIT:C2849] +synonym: "Defect/Deformity, Congenital" EXACT [NCIT:C2849] +synonym: "Deformity/Defect, Congenital" EXACT [NCIT:C2849] +synonym: "fetal developmental abnormality" RELATED [] +synonym: "fetal malformation" RELATED [] +synonym: "foetal malformation" RELATED [] +synonym: "physical disorder" EXACT [] xref: DOID:0080015 {source="MONDO:equivalentTo"} -is_a: MONDO:0000001 {source="DOID:0080015"} ! disease or disorder +xref: ICD10:Q00.Q99 {source="MONDO:equivalentTo"} +xref: ICD9:759.89 {source="linkedlifedata"} +xref: ICD9:759.9 {source="linkedlifedata"} +xref: NCIT:C2849 {source="MONDO:equivalentTo"} +xref: SCTID:276654001 {source="MONDO:equivalentTo"} +is_a: MONDO:0000001 {source="DOID:0080015", source="NCIT:C2849/inferred", source="linkedlifedata"} ! disease or disorder +relationship: has_modifier MONDO:0021140 ! congenital [Term] id: MONDO:0000840 @@ -9466,7 +9614,7 @@ synonym: "caisson disease of bone" EXACT [DOID:0080018] synonym: "DON" EXACT [DOID:0080018] xref: DOID:0080018 {source="MONDO:equivalentTo"} xref: SCTID:431591000124102 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} -is_a: MONDO:0005380 {source="DOID:0080018"} ! osteonecrosis +is_a: MONDO:0005380 {source="DOID:0080018", source="linkedlifedata/inferred"} ! osteonecrosis is_a: MONDO:0018373 {source="https://en.wikipedia.org/wiki/Dysbaric_osteonecrosis"} ! avascular necrosis [Term] @@ -9784,7 +9932,7 @@ xref: NCIT:C9360 {source="MONDO:kboom-pr-0.85/0.69/0.05", source="MONDO:equivale xref: SCTID:109965004 {source="MONDO:kboom-pr-1.00/0.74/6.05", source="MONDO:equivalentTo"} xref: UMLS:C0079748 {source="NCIT:C9360", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0003538 {source="NCIT:C9360"} ! precursor lymphoblastic lymphoma/leukemia -is_a: MONDO:0005062 {source="DOID:0080147", source="MONDO:Redundant", source="NCIT:C9360/inferred", source="linkedlifedata"} ! lymphoma +is_a: MONDO:0005062 {source="DOID:0080147", source="MONDO:Redundant", source="NCIT:C9360/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymphoma is_a: MONDO:0018908 {source="NCIT:C9360"} ! non-Hodgkin lymphoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3329/lymphoblastic-lymphoma xsd:anyURI {source="GARD:0003329"} @@ -9805,8 +9953,9 @@ is_a: MONDO:0004403 {source="NCIT:C7210"} ! childhood precursor T-lymphoblastic [Term] id: MONDO:0000875 name: adult acute monocytic leukemia -def: "An acute monocytic leukemia occurring in adults." [DOID:0080149, https://ncit.nci.nih.gov/ncitbrowser/pages/concept_details.jsf] +def: "A acute monocytic leukemia that occurs in an adult." [MONDO:design_pattern] synonym: "acute monocytic leukemia" EXACT [NCIT:C8263] +synonym: "acute monocytic leukemia of adults" EXACT [MONDO:design_pattern] synonym: "adult acute differentiated monocytic leukemia (M5b)" EXACT [NCIT:C8263] synonym: "adult acute monocytic leukemia" EXACT [NCIT:C8263] synonym: "M5b adult acute differentiated monocytic leukemia" EXACT [NCIT:C8263] @@ -9843,8 +9992,8 @@ xref: MESH:D017726 {source="MONDO:ontobio", source="DOID:0080160", source="MONDO xref: NCIT:C50521 {source="MONDO:equivalentTo"} xref: SCTID:22455005 {source="MONDO:kboom-pr-1.00/0.74/6.16", source="MONDO:equivalentTo"} xref: UMLS:C0206178 {source="GARD:0009531", source="MONDO:equivalentTo"} -is_a: MONDO:0002708 {source="DOID:0080160", source="MESH:D017726", source="MONDO:Entailed", source="linkedlifedata"} ! retinitis -is_a: MONDO:0005132 {source="NCIT:C50521"} ! cytomegalovirus infection +is_a: MONDO:0002708 {source="DOID:0080160", source="MESH:D017726", source="MONDO:Entailed", source="NCIT:C50521", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinitis +is_a: MONDO:0005132 {source="MESH:D017726", source="NCIT:C50521", source="linkedlifedata"} ! cytomegalovirus infection intersection_of: MONDO:0002708 ! retinitis intersection_of: realized_in_response_to_stimulus NCBITaxon:10358 ! Cytomegalovirus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9531/cytomegalovirus-retinitis xsd:anyURI {source="GARD:0009531"} @@ -9857,7 +10006,7 @@ synonym: "zone of skin candidiasis" EXACT [MONDO:patterns/location] xref: DOID:0080161 {source="MONDO:equivalentTo"} xref: MESH:D002179 {source="MONDO:ontobio", source="DOID:0080161", source="MONDO:equivalentTo"} xref: UMLS:C0006846 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002026 {source="MESH:D002179", source="MONDO:Entailed", source="OWLReasoner:2017"} ! candidiasis +is_a: MONDO:0002026 {source="DOID:0080161", source="MESH:D002179", source="MONDO:Entailed", source="OWLReasoner:2017"} ! candidiasis is_a: MONDO:0005093 {source="MESH:D002179/inferred", source="MONDO:Redundant", source="OWLReasoner:Elk-2018-03-06"} ! skin disease intersection_of: MONDO:0002026 ! candidiasis intersection_of: disease_has_location UBERON:0000014 ! zone of skin @@ -9879,7 +10028,7 @@ synonym: "myeloid/lymphoid neoplasms with eosinophilia and rearrangement of PDGF xref: DOID:0080164 {source="MONDO:equivalentTo"} xref: NCIT:C84270 {source="DOID:0080164", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C2827356 {source="DOID:0080164", source="NCIT:C84270", source="MONDO:equivalentTo"} -is_a: MONDO:0044881 ! hematopoietic and lymphoid cell neoplasm +is_a: MONDO:0044881 {source="NCIT:C84270"} ! hematopoietic and lymphoid cell neoplasm relationship: disease_has_major_feature HP:0001880 ! Eosinophilia relationship: excluded_subClassOf MONDO:0005170 {source="DOID:0080164"} ! myeloid neoplasm @@ -9948,8 +10097,8 @@ xref: MESH:D052016 {source="DOID:0080178", source="MONDO:ontobio", source="MONDO xref: NCIT:C3853 {source="MONDO:kboom-pr-0.85/0.69/0.10", source="MONDO:equivalentTo"} xref: SCTID:95518006 {source="MONDO:kboom-pr-1.00/0.84/15.16", source="MONDO:equivalentTo"} xref: UMLS:C0521585 {source="NCIT:C3853", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004335 {source="DOID:0080178", source="MESH:D052016/inferred", source="MONDO:Entailed", source="linkedlifedata"} ! digestive system disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C3853/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0004335 {source="DOID:0080178", source="MESH:D052016/inferred", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! digestive system disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C3853/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0004786 ! gastrointestinal system mucosa @@ -9963,8 +10112,8 @@ xref: ICD10:G00.0 {source="DOID:0080179"} xref: ICD9:320.0 {source="DOID:0080179", source="i2s", source="MONDO:equivalentTo"} xref: MESH:D008583 {source="DOID:0080179", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:192643004 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="MESH:D008583/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! bacterial infectious disease -is_a: MONDO:0006670 {source="DOID:0080179", source="MESH:D008583", source="MONDO:Entailed", source="linkedlifedata"} ! bacterial meningitis +is_a: MONDO:0005113 {source="MESH:D008583/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0006670 {source="DOID:0080179", source="MESH:D008583", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial meningitis intersection_of: MONDO:0006670 ! bacterial meningitis intersection_of: realized_in_response_to_stimulus NCBITaxon:727 ! Haemophilus influenzae @@ -10136,7 +10285,7 @@ xref: OMIM:159900 {source="MEDIC:C536096", source="ORDO:36899/e", source="MONDO: xref: Orphanet:36899 {source="DOID:0090034", source="MONDO:equivalentTo", source="OMIM:159900"} xref: SCTID:439732004 {source="MONDO:kboom-pr-0.95/0.75/1.92", source="MONDO:equivalentTo"} xref: UMLS:C1834570 {source="ORDO:36899/e", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003441 {source="MESH:C536096"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090033", source="MESH:C536096", source="linkedlifedata"} ! dystonic disorder is_a: MONDO:0017651 {source="Orphanet:36899"} ! primary myoclonus is_a: MONDO:0018329 {source="Orphanet:36899"} ! persistent combined dystonia @@ -10147,7 +10296,7 @@ synonym: "CDCBM" EXACT [DOID:0090131] synonym: "cortical dysplasia, complex, with other brain malformations" RELATED [OMIMPS:614039] xref: DOID:0090131 {source="MONDO:equivalentTo"} xref: OMIMPS:614039 {source="DOID:0090131", source="DC:0000498", source="MONDO:equivalentTo"} -is_a: MONDO:0005560 ! brain disease +is_a: MONDO:0005560 {source="DOID:0090131"} ! brain disease relationship: excluded_subClassOf MONDO:0005560 {source="DOID:0090131"} ! brain disease [Term] @@ -10175,6 +10324,7 @@ name: arrhythmogenic right ventricular dysplasia 13 def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the CTNNA3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "arrhythmogenic right ventricular cardiomyopathy 13" EXACT [DOID:0110084] synonym: "arrhythmogenic right ventricular cardiomyopathy 13" RELATED [OMIM:615616] +synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in CTNNA3" EXACT [MONDO:design_pattern] synonym: "arrhythmogenic right ventricular dysplasia type 13" EXACT [DOID:0110084, MONDORULE:2] synonym: "arrhythmogenic right ventricular dysplasia, familial, 13" EXACT [MONDO:0014279] synonym: "arrhythmogenic right ventricular dysplasia, familial, 13" RELATED [MONDO:Lexical, OMIM:615616] @@ -10182,6 +10332,7 @@ synonym: "arrhythmogenic right ventricular dysplasia, familial, 13; ARVD13" RELA synonym: "arrhythmogenic right ventricular dysplasia, familial, type 13" EXACT [MONDORULE:2, OMIM:615616] synonym: "ARVC13" EXACT [DOID:0110084] synonym: "ARVD13" EXACT [DOID:0110084, MONDO:Lexical, OMIM:615616] +synonym: "CTNNA3 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "familial arrhythmogenic right ventricular dysplasia 13" EXACT [DOID:0110084] xref: DOID:0110084 {source="MONDO:equivalentTo"} xref: ICD10:I42.8 {source="DOID:0110084"} @@ -10189,7 +10340,7 @@ xref: OMIM:615616 {source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="OMIM:615616", source="MONDO:subClassOf"} xref: UMLS:C3810138 {source="NCBI:mim2gene_medline", source="OMIM:615616", source="MONDO:equivalentTo"} is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia -is_a: MONDO:0016587 {source="MONDO:Redundant", source="OMIM:615616"} ! arrhythmogenic right ventricular cardiomyopathy +is_a: MONDO:0016587 {source="DOID:0110084", source="MONDO:Redundant", source="OMIM:615616"} ! arrhythmogenic right ventricular cardiomyopathy intersection_of: MONDO:0016587 ! arrhythmogenic right ventricular cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2511 ! CTNNA3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2511 {source="mim2gene_medgen"} ! CTNNA3 @@ -10211,7 +10362,7 @@ xref: OMIM:613090 {source="DOID:0110146", source="MONDO:subClassOf", source="MON xref: Orphanet:112 {source="OMIM:613090", source="MONDO:subClassOf"} xref: Orphanet:89938 {source="OMIM:613090", source="MONDO:subClassOf"} xref: UMLS:C2751312 {source="OMIM:613090", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015231 {source="MONDO:0000909/inferred", source="MONDO:Redundant", source="MONDOLEX:0000909/inferred", source="OMIM:613090"} ! Bartter syndrome +is_a: MONDO:0015231 {source="DOID:0110146", source="MONDO:0000909/inferred", source="MONDO:Redundant", source="MONDOLEX:0000909/inferred", source="OMIM:613090"} ! Bartter syndrome is_a: MONDO:0019524 {source="MONDOLEX:0000909", source="Orphanet:xref"} ! infantile Bartter syndrome with sensorineural deafness relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2026 {source="mim2gene_medgen"} ! CLCNKA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2027 {source="mim2gene_medgen"} ! CLCNKB @@ -10247,8 +10398,10 @@ synonym: "cardiomyopathy, dilated, 1T; CMD1T" RELATED [OMIM:613740] synonym: "cardiomyopathy, dilated, type 1T" EXACT [MONDORULE:4, OMIM:613740] synonym: "CMD1T" EXACT [DOID:0110452, MONDO:Lexical, OMIM:613740] synonym: "dilated cardiomyopathy type 1T" EXACT [DOID:0110452, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in TMPO" EXACT [MONDO:design_pattern] synonym: "MOVED to 115200" RELATED [OMIM:613740] synonym: "Moved to 115200" RELATED [OMIM:613740] +synonym: "TMPO familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110452 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110452", source="MONDO:subClassOf"} xref: MESH:C566052 {source="MONDO:equivalentTo"} @@ -10282,12 +10435,14 @@ id: MONDO:0000913 name: hereditary spherocytosis type 2 def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTB gene." [MONDO:patterns/disease_series_by_gene] synonym: "hereditary spherocytosis 2" EXACT [DOID:0110917] +synonym: "hereditary spherocytosis caused by mutation in SPTB" EXACT [MONDO:design_pattern] synonym: "hereditary spherocytosis type 2" EXACT [MONDO:0014721] synonym: "HS2" EXACT [DOID:0110917] synonym: "SPH2" EXACT [DOID:0110917, OMIM:616649] synonym: "spherocytosis, hereditary, 2" RELATED [OMIM:616649] synonym: "spherocytosis, type 2" EXACT [OMIM:616649] synonym: "spherocytosis, type 2; SPH2" RELATED [OMIM:616649] +synonym: "SPTB hereditary spherocytosis" EXACT [MONDO:design_pattern] xref: DOID:0110917 {source="MONDO:equivalentTo"} xref: OMIM:616649 {source="MONDO:equivalentTo"} xref: UMLS:C2674219 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -10338,7 +10493,7 @@ xref: SCTID:266180003 {source="DOID:100"} xref: UMLS:C0152516 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:C0178238 {source="DOID:100", source="MONDO:equivalentTo"} is_a: MONDO:0005020 {source="DOID:100", source="MONDO:Redundant", source="linkedlifedata"} ! intestinal disease -is_a: MONDO:0005550 {source="ICD10:A00.A09", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! infectious disease +is_a: MONDO:0005550 {source="ICD10:A00.A09", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_inflammation_site UBERON:0001242 ! intestinal mucosa @@ -10365,8 +10520,8 @@ xref: SCTID:266652001 {source="DOID:1002"} xref: SCTID:266653006 {source="DOID:1002"} xref: SCTID:78623009 {source="DOID:1002", source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0014179 {source="DOID:1002", source="NCIT:C26764", source="MONDO:equivalentTo"} -is_a: MONDO:0000931 {source="DOID:1002", source="MONDO:Entailed"} ! endometrial disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C26764/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0000931 {source="DOID:1002", source="MONDO:Entailed", source="NCIT:C26764", source="linkedlifedata"} ! endometrial disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C26764/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001295 ! endometrium @@ -10392,9 +10547,9 @@ xref: NCIT:C3536 {source="DOID:10020", source="MONDO:equivalentTo"} xref: SCTID:363417006 {source="DOID:10020", source="MONDO:equivalentTo"} xref: SCTID:93668007 {source="DOID:10020"} xref: UMLS:C0153454 {source="NCIT:C3536", source="DOID:10020", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000920 {source="DOID:10020", source="MONDO:Entailed"} ! duodenum cancer -is_a: MONDO:0000921 {source="NCIT:C3536"} ! ampulla of vater neoplasm -is_a: MONDO:0002516 {source="NCIT:C3536"} ! digestive system cancer +is_a: MONDO:0000920 {source="DOID:10020", source="MONDO:Entailed", source="linkedlifedata"} ! duodenum cancer +is_a: MONDO:0000921 {source="NCIT:C3536", source="linkedlifedata"} ! ampulla of vater neoplasm +is_a: MONDO:0002516 {source="DOID:10020/inferred", source="NCIT:C3536"} ! digestive system cancer is_a: MONDO:0003059 {source="DOID:10020", source="MONDO:Redundant"} ! bile duct cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0004913 ! hepatopancreatic ampulla @@ -10427,7 +10582,7 @@ xref: SCTID:363403002 {source="MONDO:kboom-pr-1.00/0.81/10.73", source="DOID:100 xref: UMLS:C0153426 {source="NCIT:C9328", source="DOID:10021"} xref: UMLS:C0541912 {source="DOID:10021"} is_a: MONDO:0000956 {source="DOID:10021", source="MONDO:Entailed", source="NCIT:C9328"} ! small intestine cancer -is_a: MONDO:0002866 {source="MESH:D004379", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! duodenal disease +is_a: MONDO:0002866 {source="MESH:D004379", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! duodenal disease is_a: MONDO:0021375 {source="MONDO:Entailed", source="NCIT:C9328", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! tumor of duodenum intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002114 ! duodenum @@ -10453,12 +10608,12 @@ xref: ONCOTREE:AMPULLAOFVATER {source="MONDO:equivalentTo"} xref: SCTID:126858004 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="DOID:10022", source="MONDO:equivalentTo"} xref: UMLS:C0042425 {source="ONCOTREE:AMPULLAOFVATER"} xref: UMLS:C0345916 {source="NCIT:C4443", source="DOID:10022", source="MONDO:equivalentTo"} -is_a: MONDO:0002866 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! duodenal disease -is_a: MONDO:0004251 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! small intestine neoplasm +is_a: MONDO:0002866 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! duodenal disease +is_a: MONDO:0004251 {source="DOID:10022/inferred", source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata", source="linkedlifedata/inferred"} ! small intestine neoplasm is_a: MONDO:0006709 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-10", source="linkedlifedata"} ! common bile duct neoplasm -is_a: MONDO:0021118 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! intestinal neoplasm +is_a: MONDO:0021118 {source="DOID:10022/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal neoplasm is_a: MONDO:0021375 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! tumor of duodenum -is_a: MONDO:0021385 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! extrahepatic bile duct neoplasm +is_a: MONDO:0021385 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! extrahepatic bile duct neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0004913 ! hepatopancreatic ampulla @@ -10514,7 +10669,7 @@ xref: SCTID:11211003 {source="DOID:10030"} xref: SCTID:390898003 {source="DOID:10030"} xref: SCTID:77690003 {source="DOID:10030", source="MONDO:equivalentTo"} xref: UMLS:C1370824 {source="DOID:10030", source="MONDO:equivalentTo"} -is_a: MONDO:0004849 {source="DOID:10030"} ! pulmonary emphysema +is_a: MONDO:0004849 {source="DOID:10030", source="NCIT:C34571", source="linkedlifedata"} ! pulmonary emphysema [Term] id: MONDO:0000924 @@ -10560,7 +10715,7 @@ xref: ICD9:094.3 {source="i2s", source="DOID:10035", source="MONDO:equivalentTo" xref: MESH:D009494 {source="DOID:10035"} xref: SCTID:37754005 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10035", source="MONDO:equivalentTo"} xref: UMLS:C0153167 {source="DOID:10035", source="MONDO:equivalentTo"} -is_a: MONDO:0004944 {source="DOID:10035"} ! neurosyphilis +is_a: MONDO:0004944 {source="DOID:10035", source="linkedlifedata/inferred"} ! neurosyphilis relationship: disease_has_feature HP:0001287 ! Meningitis [Term] @@ -10630,11 +10785,12 @@ synonym: "disease of endometrium" EXACT [MONDO:patterns/location_top] synonym: "disorder of endometrium" RELATED [MONDO:patterns/location_top] synonym: "endometrial disorder" EXACT [] synonym: "endometrium disease" EXACT [MONDO:patterns/location] +synonym: "endometrium disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:1005 {source="MONDO:equivalentTo"} xref: NCIT:C3504 {source="DOID:1005", source="MONDO:equivalentTo"} xref: SCTID:418632009 {source="DOID:1005", source="MONDO:equivalentTo"} xref: UMLS:C0151622 {source="DOID:1005"} -is_a: MONDO:0002654 {source="DOID:1005", source="MONDO:Entailed", source="linkedlife"} ! uterine disease +is_a: MONDO:0002654 {source="DOID:1005", source="MONDO:Entailed", source="NCIT:C3504", source="linkedlifedata"} ! uterine disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001295 ! endometrium @@ -10717,8 +10873,8 @@ xref: SCTID:14968007 {source="DOID:10073"} xref: SCTID:186887006 {source="DOID:10073"} xref: SCTID:301086002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10073", source="MONDO:equivalentTo"} xref: UMLS:C0153166 {source="DOID:10073", source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="MESH:C536775/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! bacterial infectious disease -is_a: MONDO:0006670 {source="DOID:10073", source="MONDO:Entailed", source="linkedlifedata"} ! bacterial meningitis +is_a: MONDO:0005113 {source="MESH:C536775/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0006670 {source="DOID:10073", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial meningitis intersection_of: MONDO:0004796 ! infectious meningitis intersection_of: realized_in_response_to_stimulus NCBITaxon:157 ! Treponema @@ -10732,8 +10888,8 @@ xref: SCTID:192699001 {source="DOID:10081"} xref: SCTID:192700000 {source="DOID:10081"} xref: SCTID:26135000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10081", source="MONDO:equivalentTo"} xref: UMLS:C0153168 {source="DOID:10081", source="MONDO:equivalentTo"} -is_a: MONDO:0019956 {source="DOID:10081", source="MONDO:Redundant", source="linkedlifedata"} ! encephalitis -is_a: MONDO:0020067 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata"} ! infectious encephalitis +is_a: MONDO:0019956 {source="DOID:10081", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! encephalitis +is_a: MONDO:0020067 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious encephalitis intersection_of: MONDO:0019956 ! encephalitis intersection_of: realized_in_response_to_stimulus NCBITaxon:157 ! Treponema @@ -10767,7 +10923,7 @@ xref: SCTID:192738001 {source="DOID:10095"} xref: SCTID:192746000 {source="DOID:10095"} xref: SCTID:27614006 {source="DOID:10095", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0021874 {source="DOID:10095", source="MONDO:equivalentTo", source="NCIT:C34734"} -is_a: MONDO:0002602 {source="DOID:10095", source="MONDO:Redundant", source="linkedlife/inferred"} ! central nervous system disease +is_a: MONDO:0002602 {source="DOID:10095", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! central nervous system disease is_a: MONDO:0005227 {source="NCIT:C34734", source="linkedlifedata"} ! abscess [Term] @@ -10795,12 +10951,13 @@ id: MONDO:0000941 name: eyelid degenerative disease def: "A neurodegenerative disease that involves the eyelid." [MONDO:patterns/location] synonym: "eyelid neurodegenerative disease" EXACT [MONDO:patterns/location] +synonym: "neurodegenerative disease of eyelid" EXACT [MONDO:design_pattern] xref: DOID:10120 {source="MONDO:equivalentTo"} xref: ICD9:374.50 {source="DOID:10120"} xref: SCTID:1112003 {source="DOID:10120", source="MONDO:equivalentTo"} xref: SCTID:193957009 {source="DOID:10120"} xref: UMLS:C0155209 {source="DOID:10120", source="MONDO:equivalentTo"} -is_a: MONDO:0003382 {source="DOID:10120", source="MONDO:Entailed"} ! eyelid disease +is_a: MONDO:0003382 {source="DOID:10120", source="MONDO:Entailed", source="linkedlifedata"} ! eyelid disease intersection_of: MONDO:0005559 ! neurodegenerative disease intersection_of: disease_has_location UBERON:0001711 ! eyelid @@ -10809,6 +10966,7 @@ id: MONDO:0000942 name: corneal disease def: "A non-neoplastic or neoplastic disorder that affects the cornea. Representative examples include keratitis, bullous keratopathy, and squamous cell carcinoma." [NCIT:P378] synonym: "cornea disease" EXACT [MONDO:patterns/location] +synonym: "cornea disease or disorder" EXACT [MONDO:design_pattern] synonym: "corneal disease" EXACT [NCIT:C26731] synonym: "corneal disorder" EXACT [NCIT:C26731] synonym: "disease of cornea" EXACT [MONDO:patterns/location_top] @@ -10826,7 +10984,7 @@ xref: SCTID:193794007 {source="DOID:10124"} xref: SCTID:193856004 {source="DOID:10124"} xref: SCTID:267733008 {source="DOID:10124"} xref: UMLS:C0010034 {source="NCIT:C26731", source="DOID:10124", source="MONDO:equivalentTo"} -is_a: MONDO:0005328 {source="DOID:10124", source="MESH:D003316", source="MONDO:Entailed", source="NCIT:C26731", source="linkedlife/inferred"} ! eye disease +is_a: MONDO:0005328 {source="DOID:10124", source="MESH:D003316", source="MONDO:Entailed", source="NCIT:C26731", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! eye disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000964 ! cornea @@ -10909,6 +11067,7 @@ is_a: MONDO:0000595 {source="DOID:10132", source="MONDO:Entailed", source="linke is_a: MONDO:0005084 {source="MONDO:Entailed", source="linkedlifedata"} ! mental disorder intersection_of: MONDO:0000595 ! sexual disorder intersection_of: disease_has_basis_in_disruption_of MF:0000020 ! mental process +disjoint_from: MONDO:0002134 ! physiological sexual disorder [Term] id: MONDO:0000948 @@ -10942,7 +11101,7 @@ xref: ICD9:372.50 {source="DOID:10139", source="i2s", source="MONDO:equivalentTo xref: SCTID:193886006 {source="DOID:10139"} xref: SCTID:40787005 {source="DOID:10139", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0155160 {source="DOID:10139", source="MONDO:equivalentTo"} -is_a: MONDO:0002932 {source="DOID:10139"} ! conjunctival disease +is_a: MONDO:0002932 {source="DOID:10139", source="linkedlifedata"} ! conjunctival disease [Term] id: MONDO:0000950 @@ -10993,7 +11152,7 @@ xref: SCTID:187963003 {source="DOID:10149"} xref: SCTID:449627008 {source="MONDO:equivalentTo"} xref: UMLS:C0153517 {source="DOID:10149"} xref: UMLS:C3265932 {source="MONDO:equivalentTo"} -is_a: MONDO:0002129 {source="DOID:10149", source="MONDO:Redundant", source="linkedlifedata"} ! bone cancer +is_a: MONDO:0002129 {source="DOID:10149", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0003608 ! hindlimb long bone @@ -11105,7 +11264,7 @@ xref: SCTID:194001006 {source="DOID:10174"} xref: SCTID:417563003 {source="DOID:10174", source="MONDO:kboom-pr-1.00/0.79/7.53", source="MONDO:equivalentTo"} xref: SCTID:82836006 {source="DOID:10174"} xref: UMLS:C0155253 {source="DOID:10174", source="MONDO:equivalentTo"} -is_a: MONDO:0001854 {source="DOID:10174", source="linkedlife", source="linkedlifedata"} ! lacrimal apparatus disease +is_a: MONDO:0001854 {source="DOID:10174", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease relationship: disease_has_location UBERON:0001850 ! lacrimal drainage system [Term] @@ -11122,7 +11281,7 @@ xref: ICD9:363.05 {source="http://eyewiki.aao.org/Neuroretinitis"} xref: MESH:D012173 {source="DOID:10176", source="MONDO:relatedTo"} xref: SCTID:410471004 {source="DOID:10176"} xref: UMLS:C0154874 {source="DOID:10176", source="MONDO:equivalentTo"} -is_a: MONDO:0006879 {source="linkedlife"} ! optic papillitis +is_a: MONDO:0006879 {source="linkedlifedata"} ! optic papillitis intersection_of: MONDO:0002122 ! neuritis intersection_of: disease_has_inflammation_site UBERON:0000941 ! cranial nerve II intersection_of: disease_has_inflammation_site UBERON:0001793 ! nerve fiber layer of retina @@ -11204,7 +11363,7 @@ xref: DOID:10187 {source="MONDO:equivalentTo"} xref: NCIT:C5701 {source="DOID:10187", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1333455 {source="NCIT:C5701", source="DOID:10187", source="MONDO:equivalentTo"} is_a: MONDO:0000385 {source="DOID:10187", source="MONDO:Redundant", source="NCIT:C5701/inferred"} ! benign digestive system neoplasm -is_a: MONDO:0003749 {source="DOID:10187", source="MONDO:Redundant"} ! esophageal disease +is_a: MONDO:0003749 {source="DOID:10187", source="MONDO:Redundant", source="NCIT:C5701/inferred"} ! esophageal disease is_a: MONDO:0005106 {source="DOID:10187", source="MONDO:Entailed", source="MONDOLEX:0000963", source="NCIT:C5701"} ! lipoma is_a: MONDO:0021459 {source="MONDO:Entailed", source="NCIT:C5701", source="OWLReasoner:Elk-2018-01-09"} ! benign neoplasm of esophagus intersection_of: MONDO:0005106 ! lipoma @@ -11219,6 +11378,7 @@ synonym: "cutaneous lipomatous tumor" EXACT [DOID:10188] synonym: "lipoma of face" NARROW [DOID:10188] synonym: "lipoma of skin" EXACT [DOID:10188, NCIT:C4616, SCTID:255187008] synonym: "lipoma of the skin" EXACT [NCIT:C4616] +synonym: "lipoma of zone of skin" EXACT [MONDO:design_pattern] synonym: "skin lipoma" EXACT [NCIT:C4616] synonym: "zone of skin lipoma" EXACT [MONDO:patterns/location] xref: DOID:10188 {source="MONDO:equivalentTo"} @@ -11232,7 +11392,7 @@ xref: SCTID:93159009 {source="DOID:10188", source="MONDO:relatedTo"} xref: UMLS:C0153968 {source="DOID:10188"} xref: UMLS:C0347394 {source="NCIT:C4616", source="DOID:10188"} xref: UMLS:C1333174 {source="DOID:10188"} -is_a: MONDO:0002531 {source="DOID:10188", source="MONDO:Redundant", source="NCIT:C4616/inferred", source="linkedlifedata"} ! skin neoplasm +is_a: MONDO:0002531 {source="DOID:10188", source="MONDO:Redundant", source="NCIT:C4616/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin neoplasm is_a: MONDO:0005106 {source="DOID:10188", source="MONDO:Entailed", source="MONDOLEX:0000964", source="NCIT:C4616"} ! lipoma is_a: MONDO:0021440 {source="MONDO:Entailed", source="NCIT:C4616/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of skin intersection_of: MONDO:0005106 ! lipoma @@ -11251,7 +11411,7 @@ xref: NCIT:C5750 {source="DOID:10190", source="exact-label-match", source="MONDO xref: UMLS:C1333970 {source="DOID:10190", source="NCIT:C5750", source="MONDO:equivalentTo"} is_a: MONDO:0004721 {source="DOID:10190", source="MONDO:Entailed"} ! liver neoplasm is_a: MONDO:0005106 {source="DOID:10190", source="MONDO:Entailed", source="MONDOLEX:0000965", source="NCIT:C5750"} ! lipoma -is_a: MONDO:0005154 {source="DOID:10190", source="MONDO:Redundant"} ! liver disease +is_a: MONDO:0005154 {source="DOID:10190", source="DOID:10190/inferred", source="MONDO:Redundant", source="NCIT:C5750/inferred"} ! liver disease intersection_of: MONDO:0005106 ! lipoma intersection_of: disease_has_location UBERON:0002107 ! liver @@ -11311,8 +11471,8 @@ xref: DOID:10195 {source="MONDO:equivalentTo"} xref: NCIT:C6644 {source="DOID:10195", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:2460001000004103 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10195", source="MONDO:equivalentTo"} xref: UMLS:C1335434 {source="DOID:10195", source="NCIT:C6644", source="MONDO:equivalentTo"} -is_a: MONDO:0000382 {source="DOID:10195", source="MONDO:Redundant", source="linkedlifedata"} ! respiratory system benign neoplasm -is_a: MONDO:0002037 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! pleural disease +is_a: MONDO:0000382 {source="DOID:10195", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm +is_a: MONDO:0002037 {source="DOID:10195", source="MONDO:Redundant", source="NCIT:C6644/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! pleural disease is_a: MONDO:0005106 {source="DOID:10195", source="MONDO:Entailed", source="MONDOLEX:0000969", source="NCIT:C6644"} ! lipoma is_a: MONDO:0021457 {source="MONDO:Entailed", source="NCIT:C6644", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of pleura intersection_of: MONDO:0005106 ! lipoma @@ -11347,8 +11507,8 @@ xref: ICD9:214.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C6719 {source="DOID:10200", source="MONDO:equivalentTo"} xref: SCTID:448270009 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="DOID:10200", source="MONDO:equivalentTo"} xref: UMLS:C1332932 {source="DOID:10200", source="NCIT:C6719", source="MONDO:equivalentTo"} -is_a: MONDO:0000634 {source="DOID:10200", source="MONDO:Redundant", source="NCIT:C6719/inferred", source="linkedlifedata"} ! thoracic benign neoplasm -is_a: MONDO:0000651 {source="MONDO:Redundant", source="NCIT:C6719/inferred", source="OWLReasoner:2017"} ! thoracic disease +is_a: MONDO:0000634 {source="DOID:10200", source="MONDO:Redundant", source="NCIT:C6719/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic benign neoplasm +is_a: MONDO:0000651 {source="DOID:10200/inferred", source="MONDO:Redundant", source="NCIT:C6719/inferred", source="OWLReasoner:2017", source="linkedlifedata/inferred"} ! thoracic disease is_a: MONDO:0005106 {source="DOID:10200", source="MONDO:Entailed", source="MONDOLEX:0000971", source="NCIT:C6719"} ! lipoma is_a: MONDO:0021529 {source="MONDO:Entailed", source="NCIT:C6719", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of chest wall intersection_of: MONDO:0005106 ! lipoma @@ -11360,12 +11520,13 @@ name: gallbladder lipoma def: "A benign adipose tissue neoplasm involving the gallbladder wall." [NCIT:C5835] synonym: "gall bladder lipoma" EXACT [MONDO:patterns/location] synonym: "gallbladder lipoma" EXACT [NCIT:C5835] +synonym: "lipoma of gall bladder" EXACT [MONDO:design_pattern] synonym: "lipoma of gallbladder" EXACT [NCIT:C5835] synonym: "lipoma of the gallbladder" EXACT [DOID:10201, NCIT:C5835] xref: DOID:10201 {source="MONDO:equivalentTo"} xref: NCIT:C5835 {source="exact-label-match", source="DOID:10201", source="MONDO:equivalentTo"} xref: UMLS:C1333747 {source="NCIT:C5835", source="DOID:10201", source="MONDO:equivalentTo"} -is_a: MONDO:0005106 {source="MONDO:Redundant", source="MONDOLEX:0000972", source="NCIT:C5835"} ! lipoma +is_a: MONDO:0005106 {source="DOID:10201", source="MONDO:Redundant", source="MONDOLEX:0000972", source="NCIT:C5835"} ! lipoma is_a: MONDO:0005281 {source="DOID:10201", source="MONDO:Redundant", source="NCIT:C5835/inferred"} ! gallbladder disease is_a: MONDO:0021503 {source="MONDO:Entailed", source="NCIT:C5835/inferred", source="OWLReasoner:Elk-2018-01-09"} ! benign neoplasm of gallbladder intersection_of: MONDO:0005106 ! lipoma @@ -11392,8 +11553,8 @@ xref: SCTID:188988008 {source="DOID:10203", source="MONDO:kboom-pr-1.00/0.91/29. xref: UMLS:C0347423 {source="DOID:10203", source="NCIT:C4618", source="MONDO:equivalentTo"} is_a: MONDO:0000633 {source="DOID:10203", source="MONDO:Redundant"} ! sensory organ benign neoplasm is_a: MONDO:0005106 {source="MONDO:Entailed", source="MONDOLEX:0000973", source="NCIT:C4618"} ! lipoma -is_a: MONDO:0021235 {source="MONDO:Entailed", source="NCIT:C4618/inferred", source="OWLReasoner:Elk-2018-01-14"} ! external ear neoplasm -is_a: MONDO:0021474 {source="MONDO:Entailed", source="NCIT:C4618/inferred", source="OWLReasoner:Elk-2018-01-14", source="linkedlifedata"} ! benign neoplasm of ear +is_a: MONDO:0021235 {source="MONDO:Entailed", source="NCIT:C4618/inferred", source="OWLReasoner:Elk-2018-01-14", source="linkedlifedata/inferred"} ! external ear neoplasm +is_a: MONDO:0021474 {source="MONDO:Entailed", source="NCIT:C4618/inferred", source="OWLReasoner:Elk-2018-01-14", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of ear intersection_of: MONDO:0005106 ! lipoma intersection_of: disease_has_location UBERON:0001691 ! external ear @@ -11409,7 +11570,7 @@ xref: ICD9:214.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C35419 {source="MONDO:equivalentTo"} xref: SCTID:188993006 {source="DOID:10205", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0347429 {source="DOID:10205", source="NCIT:C35419", source="MONDO:equivalentTo"} -is_a: MONDO:0000634 {source="DOID:10205", source="NCIT:C35419/inferred", source="linkedlifedata"} ! thoracic benign neoplasm +is_a: MONDO:0000634 {source="DOID:10205", source="NCIT:C35419/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic benign neoplasm is_a: MONDO:0005106 {source="MONDO:Entailed", source="MONDOLEX:0000974", source="NCIT:C35419", source="OWLReasoner:2017"} ! lipoma is_a: MONDO:0036781 {source="NCIT:C35419"} ! benign axillary neoplasm intersection_of: MONDO:0005106 ! lipoma @@ -11468,7 +11629,7 @@ xref: DOID:10209 {source="MONDO:equivalentTo"} xref: NCIT:C5854 {source="DOID:10209", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1333509 {source="NCIT:C5854", source="DOID:10209", source="MONDO:equivalentTo"} is_a: MONDO:0002887 {source="DOID:10209", source="MONDO:Redundant", source="NCIT:C5854/inferred"} ! bile duct disease -is_a: MONDO:0005106 {source="MONDO:Redundant", source="NCIT:C5854"} ! lipoma +is_a: MONDO:0005106 {source="DOID:10209", source="MONDO:Redundant", source="NCIT:C5854"} ! lipoma is_a: MONDO:0005304 {source="DOID:10209", source="MONDO:Redundant"} ! biliary tract neoplasm (disease) is_a: MONDO:0021385 {source="MONDO:Entailed", source="NCIT:C5854/inferred", source="OWLReasoner:Elk-2018-01-09"} ! extrahepatic bile duct neoplasm intersection_of: MONDO:0005106 ! lipoma @@ -11521,7 +11682,7 @@ xref: UMLS:C0153242 {source="DOID:1022"} xref: UMLS:C0153243 {source="DOID:1022"} xref: UMLS:C0153244 {source="DOID:1022"} is_a: MONDO:0000314 {source="DOID:1022"} ! primary bacterial infectious disease -is_a: MONDO:0005113 {source="NCIT:C85011", source="linkedlife/inferred"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="DOID:1022/inferred", source="MESH:D010874/inferred", source="NCIT:C85011", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0007000 {source="MESH:D010874"} ! Treponema infectious disease is_a: MONDO:0024295 {source="MESH:D010874"} ! skin disease caused by bacterial infection @@ -11529,6 +11690,7 @@ is_a: MONDO:0024295 {source="MESH:D010874"} ! skin disease caused by bacterial i id: MONDO:0000980 name: aortic atherosclerosis (disease) def: "A atherosclerosis that involves the aorta." [MONDO:patterns/location] +synonym: "aorta atherosclerosis" EXACT [MONDO:design_pattern] synonym: "aortic atherosclerosis" EXACT [DOID:10230, MONDO:ambiguous, SCTID:155415000, SCTID:195252007] synonym: "atherosclerosis of aorta" EXACT [DOID:10230] synonym: "atherosclerosis of aorta (disorder)" EXACT [DOID:10230, SCTID:81817003] @@ -11540,8 +11702,8 @@ xref: SCTID:155415000 {source="DOID:10230"} xref: SCTID:195252007 {source="DOID:10230"} xref: SCTID:81817003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10230", source="MONDO:equivalentTo"} xref: UMLS:C0155733 {source="DOID:10230", source="MONDO:equivalentTo"} -is_a: MONDO:0005311 {source="DOID:10230", source="linkedlife"} ! atherosclerosis -is_a: MONDO:0005561 {source="linkedlife"} ! aortic disease +is_a: MONDO:0005311 {source="DOID:10230", source="linkedlifedata"} ! atherosclerosis +is_a: MONDO:0005561 {source="linkedlifedata"} ! aortic disease intersection_of: MONDO:0005311 ! atherosclerosis intersection_of: disease_has_location UBERON:0000947 ! aorta @@ -11556,7 +11718,7 @@ xref: DOID:10234 {source="MONDO:equivalentTo"} xref: ICD9:115.93 {source="i2s", source="DOID:10234", source="MONDO:equivalentTo"} xref: SCTID:187059008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10234", source="MONDO:equivalentTo"} xref: UMLS:C0153279 {source="DOID:10234", source="MONDO:equivalentTo"} -is_a: MONDO:0005904 {source="DOID:10234", source="MONDO:Entailed", source="linkedlifedata"} ! pericarditis (disease) +is_a: MONDO:0005904 {source="DOID:10234", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! pericarditis (disease) is_a: MONDO:0018312 {source="MONDO:Entailed", source="MONDO:cjm", source="linkedlifedata"} ! histoplasmosis intersection_of: MONDO:0005904 ! pericarditis (disease) intersection_of: realized_in_response_to_stimulus NCBITaxon:5036 ! Histoplasma @@ -11652,7 +11814,7 @@ xref: NCIT:C26860 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equiva xref: SCTID:196075003 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0029799 {source="DOID:10247"} xref: UMLS:C0032231 {source="NCIT:C26860", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002037 {source="DOID:10247", source="MESH:D010998", source="MONDO:Entailed", source="linkedlifedata"} ! pleural disease +is_a: MONDO:0002037 {source="DOID:10247", source="MESH:D010998", source="MONDO:Entailed", source="NCIT:C26860", source="linkedlifedata"} ! pleural disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000977 ! pleura intersection_of: realized_in_response_to GO:0006954 ! inflammatory response @@ -11724,7 +11886,7 @@ xref: SCTID:186652008 {source="DOID:10264"} xref: SCTID:240526004 {source="DOID:10264"} xref: SCTID:36989005 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10264", source="MONDO:equivalentTo"} xref: UMLS:C0026780 {source="NCIT:C29888", source="DOID:10264", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="DOID:10264", source="EFO:0007383", source="MESH:D009107/inferred", source="NCIT:C29888", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:10264", source="EFO:0007383", source="MESH:D009107/inferred", source="MESH:D019351/inferred", source="NCIT:C29888", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:11161 ! Mumps virus relationship: realized_in_response_to_stimulus NCBITaxon:11161 {source="Wikidata"} ! Mumps virus @@ -11747,7 +11909,7 @@ xref: SCTID:70422006 {source="MONDO:equivalentTo"} xref: UMLS:C0155655 {source="DOID:10266"} xref: UMLS:C0264710 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} is_a: MONDO:0003674 {source="MONDO:Entailed", source="MONDO:cjm", source="MONDOLEX:0000990"} ! subendocardial myocardial infarction -is_a: MONDO:0004781 {source="DOID:10266", source="MONDO:Entailed", source="MONDOLEX:0000990", source="linkedlife"} ! acute myocardial infarction +is_a: MONDO:0004781 {source="DOID:10266", source="MONDO:Entailed", source="MONDOLEX:0000990", source="linkedlifedata"} ! acute myocardial infarction intersection_of: MONDO:0003674 ! subendocardial myocardial infarction intersection_of: has_modifier PATO:0000389 ! acute @@ -11856,7 +12018,7 @@ xref: SCTID:54696002 {source="DOID:1029"} xref: UMLS:C0030443 {source="NCIT:C84709", source="DOID:1029"} is_a: MONDO:0004689 {source="DOID:1029", source="MESH:D010245"} ! inborn metal metabolism disorder is_a: MONDO:0005218 {source="MESH:D010245", source="Orphanet:371433/inferred"} ! muscular disease -is_a: MONDO:0020123 {source="linkedlife"} ! metabolic myopathy +is_a: MONDO:0020123 {source="linkedlifedata"} ! metabolic myopathy intersection_of: MONDO:0016122 ! periodic paralysis (disease) intersection_of: has_modifier MONDO:0021152 ! genetic and inherited property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6422/familial-periodic-paralysis xsd:anyURI {source="GARD:0006422"} @@ -11866,6 +12028,7 @@ id: MONDO:0000996 name: prostate lymphoma def: "A rare non-Hodgkin or Hodgkin lymphoma that arises from the prostate gland." [NCIT:C5533] synonym: "lymphoma of prostate" EXACT [DOID:10290, NCIT:C5533] +synonym: "lymphoma of prostate gland" EXACT [MONDO:design_pattern] synonym: "lymphoma of the prostate" EXACT [DOID:10290, NCIT:C5533] synonym: "primary prostate lymphoma" EXACT [NCIT:C5533] synonym: "prostate gland lymphoma" EXACT [MONDO:patterns/location] @@ -11916,7 +12079,7 @@ xref: ICD9:503 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C27559 {source="DOID:10319", source="MONDO:equivalentTo"} xref: SCTID:233759002 {source="DOID:10319", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0340184 {source="DOID:10319", source="MONDO:equivalentTo", source="NCIT:C27559"} -is_a: MONDO:0015926 {source="DOID:10319", source="MONDO:Entailed", source="NCIT:C27559", source="linkedlifedata"} ! pneumoconiosis +is_a: MONDO:0015926 {source="DOID:10319", source="MONDO:Entailed", source="NCIT:C27559", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis intersection_of: MONDO:0015926 ! pneumoconiosis intersection_of: realized_in_response_to_stimulus ENVO:02000100 ! mineral dust @@ -11935,7 +12098,7 @@ xref: MESH:C537080 {source="MONDO:ontobio", source="DOID:10321", source="MONDO:e xref: NCIT:C34410 {source="DOID:10321", source="MONDO:equivalentTo"} xref: SCTID:50076003 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10321", source="MONDO:equivalentTo"} xref: UMLS:C0340177 {source="NCIT:C34410", source="DOID:10321", source="MONDO:equivalentTo"} -is_a: MONDO:0015926 {source="DOID:10321", source="MESH:C537080", source="MONDO:Entailed", source="NCIT:C34410", source="linkedlife", source="linkedlifedata"} ! pneumoconiosis +is_a: MONDO:0015926 {source="DOID:10321", source="MESH:C537080", source="MONDO:Entailed", source="NCIT:C34410", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis intersection_of: MONDO:0015926 ! pneumoconiosis intersection_of: realized_in_response_to_stimulus ENVO:01001284 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8371/baritosis xsd:anyURI {source="GARD:0008371"} @@ -11957,7 +12120,7 @@ xref: ICD9:502 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C27026 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10329", source="MONDO:equivalentTo"} xref: SCTID:73144008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10329", source="MONDO:equivalentTo"} xref: UMLS:C0238377 {source="NCIT:C27026", source="DOID:10329", source="MONDO:equivalentTo"} -is_a: MONDO:0015926 {source="DOID:10329", source="MONDO:Entailed", source="NCIT:C27026", source="linkedlifedata"} ! pneumoconiosis +is_a: MONDO:0015926 {source="DOID:10329", source="MONDO:Entailed", source="NCIT:C27026", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis intersection_of: MONDO:0015926 ! pneumoconiosis intersection_of: realized_in_response_to_stimulus ENVO:01001285 @@ -11971,7 +12134,7 @@ xref: ICD9:502 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C35397 {source="DOID:10330", source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equivalentTo"} xref: SCTID:1259003 {source="MONDO:kboom-pr-1.00/0.80/8.72", source="DOID:10330", source="MONDO:equivalentTo"} xref: UMLS:C0340186 {source="NCIT:C35397", source="DOID:10330", source="MONDO:equivalentTo"} -is_a: MONDO:0015926 {source="DOID:10330", source="MONDO:Entailed", source="NCIT:C35397", source="linkedlifedata"} ! pneumoconiosis +is_a: MONDO:0015926 {source="DOID:10330", source="MONDO:Entailed", source="NCIT:C35397", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis intersection_of: MONDO:0015926 ! pneumoconiosis intersection_of: realized_in_response_to_stimulus ENVO:01001286 @@ -11988,7 +12151,7 @@ xref: ICD9:502 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C35315 {source="DOID:10331", source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} xref: SCTID:36696005 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10331", source="MONDO:equivalentTo"} xref: UMLS:C0264435 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C35315", source="DOID:10331", source="MONDO:equivalentTo"} -is_a: MONDO:0015926 {source="DOID:10331", source="MONDO:Entailed", source="NCIT:C35315", source="linkedlifedata"} ! pneumoconiosis +is_a: MONDO:0015926 {source="DOID:10331", source="MONDO:Entailed", source="NCIT:C35315", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis intersection_of: MONDO:0015926 ! pneumoconiosis intersection_of: realized_in_response_to_stimulus ENVO:01001288 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8355/kaolin-pneumoconiosis xsd:anyURI {source="GARD:0008355"} @@ -12003,7 +12166,7 @@ xref: ICD10:H47.23 {source="DOID:10337"} xref: ICD9:377.14 {source="DOID:10337", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:1207009 {source="DOID:10337", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0271342 {source="DOID:10337", source="MONDO:equivalentTo"} -is_a: MONDO:0003608 {source="DOID:10337", source="linkedlifedata"} ! optic atrophy +is_a: MONDO:0003608 {source="DOID:10337", source="linkedlifedata", source="linkedlifedata/inferred"} ! optic atrophy is_a: MONDO:0005041 {source="DOID:10337", source="linkedlifedata"} ! glaucoma (disease) [Term] @@ -12130,7 +12293,7 @@ xref: NCIT:C128374 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equiv xref: SCTID:25671008 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10361", source="MONDO:equivalentTo"} xref: UMLS:C0154652 {source="DOID:10361", source="MONDO:equivalentTo", source="NCIT:C128374"} is_a: MONDO:0001007 {source="DOID:10361", source="linkedlifedata"} ! chronic meningitis -is_a: MONDO:0021108 {source="MONDO:Redundant", source="NCIT:C128374", source="linkedlifedata"} ! meningitis (disease) +is_a: MONDO:0021108 {source="MONDO:Redundant", source="NCIT:C128374", source="linkedlifedata", source="linkedlifedata/inferred"} ! meningitis (disease) [Term] id: MONDO:0001016 @@ -12229,7 +12392,7 @@ xref: SCTID:267627009 {source="DOID:10376"} xref: SCTID:267726008 {source="DOID:10376"} xref: SCTID:387742006 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10376", source="MONDO:equivalentTo"} xref: UMLS:C0002418 {source="NCIT:C118764", source="DOID:10376", source="MONDO:equivalentTo"} -is_a: MONDO:0021084 {source="NCIT:C118764", source="NCIT:C118764/inferred", source="linkedlife"} ! vision disorder +is_a: MONDO:0021084 {source="NCIT:C118764", source="NCIT:C118764/inferred", source="linkedlifedata"} ! vision disorder [Term] id: MONDO:0001021 @@ -12273,8 +12436,8 @@ xref: SCTID:10300002 {source="DOID:1039"} xref: SCTID:110006004 {source="DOID:1039", source="MONDO:kboom-pr-1.00/0.79/8.32", source="MONDO:equivalentTo"} xref: SCTID:128923008 {source="DOID:1039"} xref: UMLS:C0023486 {source="NCIT:C3181", source="DOID:1039", source="MONDO:equivalentTo"} -is_a: MONDO:0001014 {source="NCIT:C3181", source="linkedlifedata"} ! chronic leukemia -is_a: MONDO:0001018 {source="MONDO:Redundant", source="NCIT:C3181"} ! lymphoblastic leukemia +is_a: MONDO:0001014 {source="NCIT:C3181", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic leukemia +is_a: MONDO:0001018 {source="DOID:1039/inferred", source="MONDO:Redundant", source="NCIT:C3181"} ! lymphoblastic leukemia is_a: MONDO:0005402 {source="MESH:D015463", source="NCIT:C3181"} ! lymphoid leukemia (disease) [Term] @@ -12296,7 +12459,7 @@ xref: SCTID:67525007 {source="DOID:10398"} xref: UMLS:C0152937 {source="DOID:10398"} xref: UMLS:C0152938 {source="DOID:10398"} xref: UMLS:C0524688 {source="DOID:10398", source="MONDO:equivalentTo"} -is_a: MONDO:0019095 {source="DOID:10398", source="ICD10:A20.2", source="MONDOLEX:0001024", source="linkedlifedata"} ! plague +is_a: MONDO:0019095 {source="DOID:10398", source="ICD10:A20.2", source="MONDOLEX:0001024", source="linkedlifedata", source="linkedlifedata/inferred"} ! plague intersection_of: MONDO:0019095 ! plague intersection_of: disease_has_location UBERON:0002048 ! lung @@ -12304,6 +12467,7 @@ intersection_of: disease_has_location UBERON:0002048 ! lung id: MONDO:0001025 name: seminal vesicle chronic gonorrhea def: "Chronic form of gonococcal seminal vesiculitis." [MONDO:patterns/chronic] +synonym: "chronic gonococcal seminal vesiculitis" EXACT [MONDO:design_pattern] synonym: "gonococcal seminal vesiculitis, chronic" EXACT [DOID:10399, ICD9CM_2006:098.34, MONDO:patterns/chronic] xref: DOID:10399 {source="MONDO:equivalentTo"} xref: ICD9:098.34 {source="i2s", source="DOID:10399", source="MONDO:equivalentTo"} @@ -12357,7 +12521,7 @@ xref: SCTID:196362006 {source="DOID:10423"} xref: SCTID:196364007 {source="DOID:10423"} xref: SCTID:21638000 {source="DOID:10423"} xref: UMLS:C0001342 {source="DOID:10423", source="NCIT:C34354", source="MONDO:equivalentTo"} -is_a: MONDO:0005076 {source="MONDO:Entailed", source="NCIT:C34354", source="OWLReasoner:2017"} ! periodontitis +is_a: MONDO:0005076 {source="DOID:10423", source="MONDO:Entailed", source="NCIT:C34354", source="OWLReasoner:2017"} ! periodontitis intersection_of: MONDO:0005076 ! periodontitis intersection_of: has_modifier PATO:0000389 ! acute @@ -12392,7 +12556,7 @@ xref: SCTID:268349005 {source="DOID:10426"} xref: SCTID:388981000 {source="DOID:10426"} xref: SCTID:5601008 {source="DOID:10426", source="MONDO:equivalentTo"} xref: UMLS:C0022738 {source="DOID:10426", source="NCIT:C98967"} -is_a: MONDO:0000839 {source="DOID:10426"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:10426", source="ICD10:Q76.1/inferred"} ! congenital abnormality is_a: MONDO:0019711 {source="MONDO:cjm"} ! dysostosis with predominant vertebral and costal involvement property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10280/klippel-feil-syndrome xsd:anyURI {source="GARD:0010280"} @@ -12413,6 +12577,7 @@ is_a: MONDO:0015486 {source="DOID:10428", source="linkedlifedata"} ! keratoconus id: MONDO:0001031 name: purulent acute otitis media def: "Acute form of suppurative otitis media." [MONDO:patterns/acute] +synonym: "acute suppurative otitis media" EXACT [MONDO:design_pattern] synonym: "suppurative otitis media, acute" EXACT [MONDO:patterns/acute] xref: COHD:439264 {source="MONDO:equivalentTo"} xref: DOID:10435 {source="MONDO:equivalentTo"} @@ -12433,7 +12598,7 @@ xref: ICD10:H16.05 {source="DOID:10439"} xref: ICD9:370.07 {source="DOID:10439", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:22440001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10439", source="MONDO:equivalentTo"} xref: UMLS:C0155072 {source="DOID:10439", source="MONDO:equivalentTo"} -is_a: MONDO:0004577 {source="DOID:10439", source="linkedlifedata"} ! corneal ulcer +is_a: MONDO:0004577 {source="DOID:10439", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal ulcer [Term] id: MONDO:0001033 @@ -12444,7 +12609,7 @@ xref: ICD9:370.05 {source="i2s", source="DOID:10440", source="MONDO:equivalentTo xref: SCTID:397977001 {source="DOID:10440", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: SCTID:59939007 {source="DOID:10440"} xref: UMLS:C0155071 {source="DOID:10440", source="MONDO:equivalentTo"} -is_a: MONDO:0004577 {source="DOID:10440", source="linkedlifedata"} ! corneal ulcer +is_a: MONDO:0004577 {source="DOID:10440", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal ulcer [Term] id: MONDO:0001034 @@ -12455,7 +12620,7 @@ xref: ICD10:H16.04 {source="DOID:10441"} xref: ICD9:370.01 {source="i2s", source="DOID:10441", source="MONDO:equivalentTo"} xref: SCTID:47398006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10441", source="MONDO:equivalentTo"} xref: UMLS:C0155067 {source="DOID:10441", source="MONDO:equivalentTo"} -is_a: MONDO:0004577 {source="DOID:10441", source="linkedlifedata"} ! corneal ulcer +is_a: MONDO:0004577 {source="DOID:10441", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal ulcer [Term] id: MONDO:0001035 @@ -12527,8 +12692,8 @@ xref: SCTID:90176007 {source="DOID:10456"} xref: SCTID:90979004 {source="DOID:10456", source="MONDO:kboom-pr-0.85/0.68/0.11", source="MONDO:equivalentTo"} xref: UMLS:C0040425 {source="DOID:10456", source="NCIT:C116006", source="MONDO:equivalentTo"} xref: UMLS:C0149517 {source="DOID:10456", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0004867 {source="DOID:10456", source="linkedlifedata"} ! upper respiratory tract disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0004867 {source="DOID:10456", source="linkedlifedata", source="linkedlifedata/inferred"} ! upper respiratory tract disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0002372 ! tonsil relationship: disease_has_feature HP:0011110 ! Tonsillitis @@ -12552,8 +12717,8 @@ xref: SCTID:47841006 {source="MONDO:kboom-pr-0.86/0.69/0.23", source="DOID:10460 xref: SCTID:51476001 {source="DOID:10460"} xref: UMLS:C0027441 {source="NCIT:C34837", source="DOID:10460", source="MONDO:equivalentTo"} xref: UMLS:C0155826 {source="DOID:10460", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0004821 {source="DOID:10460", source="MESH:D009304", source="MONDO:Entailed"} ! nasopharyngeal disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0004821 {source="DOID:10460", source="MESH:D009304", source="MONDO:Entailed", source="NCIT:C34837", source="linkedlifedata", source="linkedlifedata/inferred"} ! nasopharyngeal disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001728 ! nasopharynx @@ -12564,6 +12729,7 @@ def: "A dental caries that involves the dentine." [MONDO:patterns/location] synonym: "compound dental caries" EXACT [DOID:10461] synonym: "compound dental caries (disorder)" EXACT [DOID:10461, SCTID:50047001] synonym: "dental caries extending into dentine" EXACT [DOID:10461, ICD9CM_2006:521.02] +synonym: "dental caries of dentine" EXACT [MONDO:design_pattern] synonym: "dentin caries, NOS" RELATED EXCLUDE [DOID:10461, SCTID:44828002] synonym: "dentine dental caries" EXACT [MONDO:patterns/location] xref: DOID:10461 {source="MONDO:equivalentTo"} @@ -12584,6 +12750,7 @@ def: "A tendinitis that involves the patella." [MONDO:patterns/location] synonym: "patella tendinitis" EXACT [MONDO:patterns/location] synonym: "patellar tendonitis" EXACT [DOID:10471] synonym: "patellar tendonitis (disorder)" EXACT [DOID:10471, SCTID:37785001] +synonym: "tendinitis of patella" EXACT [MONDO:design_pattern] xref: DOID:10471 {source="MONDO:equivalentTo"} xref: ICD10:M76.5 {source="DOID:10471", source="MONDO:equivalentTo"} xref: ICD10:M76.50 {source="DOID:10471"} @@ -12622,7 +12789,7 @@ xref: SCTID:156947007 {source="DOID:10485"} xref: SCTID:204656005 {source="DOID:10485"} xref: SCTID:26179002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:10485", source="MONDO:equivalentTo"} xref: UMLS:C0014850 {source="NCIT:C87072", source="DOID:10485"} -is_a: MONDO:0003749 {source="DOID:10485", source="MESH:D004933"} ! esophageal disease +is_a: MONDO:0003749 {source="DOID:10485", source="MESH:D004933", source="NCIT:C87072/inferred", source="linkedlifedata/inferred"} ! esophageal disease [Term] id: MONDO:0001045 @@ -12660,7 +12827,7 @@ xref: SCTID:204712000 {source="DOID:10488"} xref: SCTID:204731006 {source="MONDO:kboom-pr-0.89/0.77/0.06", source="MONDO:equivalentTo", source="DOID:10488"} xref: SCTID:204733009 {source="DOID:10488"} xref: UMLS:C0003466 {source="NCIT:C84784", source="DOID:10488"} -is_a: MONDO:0000839 {source="DOID:10488"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:10488"} ! congenital abnormality relationship: disease_has_feature HP:0002023 ! Anal atresia relationship: disease_has_location UBERON:0001245 ! anus @@ -12718,6 +12885,7 @@ is_a: MONDO:0004795 {source="DOID:10516", source="ICD10:H60.2", source="MONDOLEX [Term] id: MONDO:0001051 name: acute otitis externa +def: "Acute form of otitis externa." [MONDO:design_pattern] synonym: "acute bacterial inflammation of external ear" EXACT [DOID:10518] synonym: "acute bacterial inflammation of external ear (disorder)" EXACT [DOID:10518, SCTID:39149004] synonym: "Acute otitis externa" RELATED [UMLS:C0149948] @@ -12726,6 +12894,7 @@ synonym: "acute swimmer's ear" EXACT [DOID:10518, SCTID:30250000] synonym: "acute swimmer's ear (disorder)" EXACT [DOID:10518, SCTID:194201001] synonym: "acute swimmers' ear" EXACT [DOID:10518, ICD9CM_2006:380.12] synonym: "beach ear" EXACT [DOID:10518] +synonym: "otitis externa, acute" EXACT [MONDO:design_pattern] synonym: "tank ear" EXACT [DOID:10518, MTHICD9_2006:380.12] xref: DOID:10518 {source="MONDO:equivalentTo"} xref: ICD9:380.12 {source="DOID:10518"} @@ -12735,7 +12904,7 @@ xref: SCTID:30250000 {source="DOID:10518", source="UMLS:C0149948", source="MONDO xref: SCTID:39149004 {source="DOID:10518"} xref: UMLS:C0149948 {source="MONDO:equivalentTo"} xref: UMLS:C0155393 {source="DOID:10518"} -is_a: MONDO:0004795 {source="DOID:10518", source="MONDOLEX:0001051"} ! otitis externa +is_a: MONDO:0004795 {source="DOID:10518", source="MONDOLEX:0001051", source="linkedlifedata"} ! otitis externa intersection_of: MONDO:0004795 ! otitis externa intersection_of: has_modifier PATO:0000389 ! acute @@ -12746,6 +12915,8 @@ def: "Chronic form of otomycosis." [MONDO:patterns/chronic] synonym: "chronic mycotic otitis externa" EXACT [DOID:10519, ICD9CM_2006:380.15] synonym: "chronic mycotic otitis externa (disorder)" EXACT [DOID:10519, SCTID:111898002] synonym: "chronic mycotic otitis externa NOS (disorder)" EXACT [DOID:10519, SCTID:194209004] +synonym: "chronic otomycosis" EXACT [MONDO:design_pattern] +synonym: "otomycosis, chronic" EXACT [MONDO:design_pattern] xref: COHD:373200 {source="MONDO:equivalentTo"} xref: DOID:10519 {source="MONDO:equivalentTo"} xref: ICD9:380.15 {source="DOID:10519", source="i2s", source="MONDO:equivalentTo"} @@ -12819,7 +12990,7 @@ synonym: "stomach cancer" EXACT [MONDO:patterns/location] xref: COHD:443387 {source="MONDO:equivalentTo"} xref: DC:0000523 {source="MONDO:equivalentTo"} xref: DOID:10534 {source="MONDO:equivalentTo"} -xref: ICD10:C16 {source="DOID:10534"} +xref: ICD10:C16 {source="DOID:10534", source="MONDO:equivalentTo"} xref: ICD10:C16.2 {source="DOID:10534"} xref: ICD10:C16.5 {source="DOID:10534"} xref: ICD10:C16.6 {source="DOID:10534"} @@ -12864,7 +13035,7 @@ xref: UMLS:C0153422 {source="DOID:10534"} xref: UMLS:C0153423 {source="DOID:10534"} xref: UMLS:C0699791 {source="OMIM:613659", source="MONDO:superClassOf"} xref: UMLS:C3150911 {source="OMIM:613659"} -is_a: MONDO:0002516 {source="DOID:10534", source="MONDO:Entailed", source="NCIT:C9331"} ! digestive system cancer +is_a: MONDO:0002516 {source="DOID:10534", source="ICD10:C16", source="MONDO:Entailed", source="NCIT:C9331"} ! digestive system cancer is_a: MONDO:0021085 {source="MONDO:Entailed", source="NCIT:C9331"} ! gastric neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000945 ! stomach @@ -13031,6 +13202,8 @@ id: MONDO:0001064 name: acute eustachian salpingitis def: "Acute form of otosalpingitis." [MONDO:patterns/acute] synonym: "acute eustachian tube salpingitis" EXACT [DOID:10550, SCTID:194268005] +synonym: "acute otosalpingitis" EXACT [MONDO:design_pattern] +synonym: "otosalpingitis, acute" EXACT [MONDO:design_pattern] xref: DOID:10550 {source="MONDO:equivalentTo"} xref: ICD10:H68.01 {source="DOID:10550"} xref: ICD10:H68.019 {source="DOID:10550"} @@ -13113,7 +13286,7 @@ xref: SCTID:77912009 {source="DOID:10568"} xref: UMLS:C0275990 {source="DOID:10568"} xref: UMLS:C0275998 {source="DOID:10568", source="NCIT:C41352", source="MONDO:equivalentTo"} xref: UMLS:C0343834 {source="DOID:10568"} -is_a: MONDO:0006019 {source="DOID:10568", source="NCIT:C41352", source="linkedlifedata"} ! yaws +is_a: MONDO:0006019 {source="DOID:10568", source="NCIT:C41352", source="linkedlifedata", source="linkedlifedata/inferred"} ! yaws [Term] id: MONDO:0001068 @@ -13154,6 +13327,7 @@ name: intellectual disability def: "A broad category of disorders characterized by an impairment to the intelligence an individual possesses. These impairments can result from trauma, birth, or disease and are not restricted to any particular age group." [NCIT:C97250] synonym: "intellectual disabilities" EXACT [NCIT:C97250] synonym: "mental retardation" RELATED DEPRECATED [ICD10:F70.F79] +synonym: "MENTAL RETARDATION, AUTOSOMAL RECESSIVE 15" EXACT [DOID:1059] xref: DOID:1059 {source="MONDO:equivalentTo"} xref: EFO:0003847 {source="MONDO:equivalentTo"} xref: GARD:0011963 {source="MONDO:equivalentTo"} @@ -13169,7 +13343,7 @@ xref: SCTID:268732001 {source="DOID:1059"} xref: SCTID:91138005 {source="DOID:1059", source="MONDO:equivalentTo"} xref: UMLS:C0025362 {source="DOID:1059"} xref: UMLS:C3714756 {source="NCIT:C97250"} -is_a: MONDO:0005503 {source="linkedlifedata"} ! developmental disorder of mental health +is_a: MONDO:0005503 {source="DOID:1059/inferred", source="linkedlifedata"} ! developmental disorder of mental health [Term] id: MONDO:0001072 @@ -13184,7 +13358,7 @@ xref: ICD9:642.43 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:642.44 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:41114007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0156664 {source="DOID:10590"} -is_a: MONDO:0005081 {source="DOID:10590", source="MONDOLEX:0001072", source="linkedlife"} ! preeclampsia +is_a: MONDO:0005081 {source="DOID:10590", source="MONDOLEX:0001072", source="linkedlifedata"} ! preeclampsia [Term] id: MONDO:0001073 @@ -13254,9 +13428,9 @@ xref: SCTID:190752008 {source="DOID:10603"} xref: SCTID:267426009 {source="DOID:10603", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: SCTID:9414007 {source="DOID:10603"} xref: UMLS:C0271650 {source="DOID:10603", source="MONDO:equivalentTo", source="NCIT:C34646"} -is_a: MONDO:0002908 {source="MESH:D018149/inferred", source="MONDO:Redundant", source="NCIT:C34646"} ! glucose metabolism disease -is_a: MONDO:0011731 {source="linkedlife"} ! glucose-galactose malabsorption -is_a: MONDO:0045015 {source="linkedlife"} ! carbohydrate transport disease +is_a: MONDO:0002908 {source="DOID:10603/inferred", source="MESH:D018149/inferred", source="MONDO:Redundant", source="NCIT:C34646"} ! glucose metabolism disease +is_a: MONDO:0011731 {source="linkedlifedata"} ! glucose-galactose malabsorption +is_a: MONDO:0045015 {source="linkedlifedata"} ! carbohydrate transport disease relationship: disease_has_feature MONDO:0002909 {source="DOID:10603-modified", source="MESH:D018149-modifier", source="NCIT:C34646-textdef"} ! hyperglycemia [Term] @@ -13286,7 +13460,7 @@ xref: SCTID:155846005 {source="DOID:10607"} xref: SCTID:266547002 {source="DOID:10607"} xref: SCTID:47384003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10607", source="MONDO:equivalentTo"} xref: UMLS:C0038054 {source="DOID:10607", source="MONDO:equivalentTo", source="NCIT:C45428"} -is_a: MONDO:0005020 {source="DOID:10607", source="MESH:D013182/inferred", source="NCIT:C45428/inferred", source="linkedlifedata"} ! intestinal disease +is_a: MONDO:0005020 {source="DOID:10607", source="MESH:D013182/inferred", source="NCIT:C45428/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7824/tropical-sprue xsd:anyURI {source="GARD:0007824"} [Term] @@ -13304,7 +13478,7 @@ xref: SCTID:155845009 {source="DOID:10610"} xref: SCTID:197487009 {source="DOID:10610"} xref: SCTID:54576000 {source="DOID:10610", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0152166 {source="DOID:10610", source="MONDO:equivalentTo"} -is_a: MONDO:0002356 {source="DOID:10610"} ! pancreas disease +is_a: MONDO:0002356 {source="DOID:10610", source="linkedlifedata/inferred"} ! pancreas disease relationship: disease_has_location UBERON:0001264 ! pancreas [Term] @@ -13312,7 +13486,9 @@ id: MONDO:0001080 name: acute gonococcal cervicitis def: "Acute form of gonococcal cervicitis." [MONDO:patterns/acute] synonym: "acute gonorrhea of cervix" EXACT [DOID:10615, MTHICD9_2006:098.15] +synonym: "Gonococcal cervicitis" EXACT [DOID:10615] synonym: "gonococcal cervicitis (acute)" EXACT [DOID:10615, ICD9CM_2006:098.15] +synonym: "gonococcal cervicitis, acute" EXACT [MONDO:design_pattern] xref: COHD:193136 {source="MONDO:equivalentTo"} xref: DOID:10615 {source="MONDO:equivalentTo"} xref: ICD9:098.15 {source="DOID:10615", source="i2s", source="MONDO:equivalentTo"} @@ -13410,7 +13586,7 @@ xref: ICD10:H47.21 {source="DOID:10627"} xref: ICD9:377.11 {source="DOID:10627", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:21098003 {source="DOID:10627", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155291 {source="DOID:10627", source="MONDO:equivalentTo"} -is_a: MONDO:0003608 {source="DOID:10627", source="linkedlife"} ! optic atrophy +is_a: MONDO:0003608 {source="DOID:10627", source="linkedlifedata"} ! optic atrophy [Term] id: MONDO:0001085 @@ -13439,7 +13615,7 @@ xref: ICD9:377.15 {source="i2s", source="MONDO:equivalentTo", source="DOID:10631 xref: SCTID:111527005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:10631"} xref: SCTID:194044005 {source="DOID:10631"} xref: UMLS:C0155295 {source="MONDO:equivalentTo", source="DOID:10631"} -is_a: MONDO:0003608 {source="DOID:10631", source="linkedlife"} ! optic atrophy +is_a: MONDO:0003608 {source="DOID:10631", source="linkedlifedata"} ! optic atrophy [Term] id: MONDO:0001087 @@ -13454,7 +13630,7 @@ xref: NCIT:C92632 {source="DOID:10646", source="MONDO:kboom-pr-1.00/0.93/31.20", xref: SCTID:231486008 {source="DOID:10646"} xref: SCTID:31027006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10646", source="MONDO:equivalentTo"} xref: UMLS:C0036363 {source="DOID:10646", source="NCIT:C92632"} -is_a: MONDO:0002028 {source="DOID:10646", source="NCIT:C92632", source="linkedlifedata"} ! personality disorder (disease) +is_a: MONDO:0002028 {source="DOID:10646", source="NCIT:C92632", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease) [Term] id: MONDO:0001088 @@ -13470,7 +13646,7 @@ xref: ICD9:410.32 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:76593002 {source="MONDO:kboom-pr-1.00/0.80/10.23", source="MONDO:equivalentTo"} xref: UMLS:C0155640 {source="DOID:10648"} xref: UMLS:C0340304 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0004781 {source="DOID:10648", source="MONDOLEX:0001088", source="linkedlifedata"} ! acute myocardial infarction +is_a: MONDO:0004781 {source="DOID:10648", source="MONDOLEX:0001088", source="linkedlifedata", source="linkedlifedata/inferred"} ! acute myocardial infarction [Term] id: MONDO:0001089 @@ -13584,7 +13760,7 @@ xref: NCIT:C6628 {source="NCIT:C6628", source="EFO:1000367", source="DOID:10660" xref: UMLS:C1334673 {source="NCIT:C6628", source="DOID:10660", source="MONDO:equivalentTo"} is_a: MONDO:0003098 {source="DOID:10660", source="NCIT:C6628"} ! mediastinal neural neoplasm is_a: MONDO:0005072 {source="DOID:10660", source="EFO:1000367", source="MONDO:Entailed", source="NCIT:C6628/inferred"} ! neuroblastoma -is_a: MONDO:0005843 {source="NCIT:C6628", source="OWLReasoner:Elk-2018-01-13"} ! mediastinal cancer +is_a: MONDO:0005843 {source="DOID:10660/inferred", source="NCIT:C6628", source="OWLReasoner:Elk-2018-01-13"} ! mediastinal cancer intersection_of: MONDO:0005072 ! neuroblastoma intersection_of: disease_has_location UBERON:0003728 ! mediastinum @@ -13600,7 +13776,7 @@ xref: DOID:10661 {source="MONDO:equivalentTo"} xref: NCIT:C6627 {source="DOID:10661", source="MONDO:equivalentTo"} xref: UMLS:C1334653 {source="NCIT:C6627", source="DOID:10661", source="MONDO:equivalentTo"} is_a: MONDO:0001095 {source="DOID:10661", source="MONDOLEX:0001096"} ! mediastinum neuroblastoma -is_a: MONDO:0003098 {source="NCIT:C6627"} ! mediastinal neural neoplasm +is_a: MONDO:0003098 {source="DOID:10661", source="NCIT:C6627"} ! mediastinal neural neoplasm is_a: MONDO:0003327 {source="NCIT:C6627"} ! peripheral ganglioneuroblastoma is_a: MONDO:0005035 {source="DOID:10661", source="MONDO:Redundant", source="NCIT:C6627/inferred"} ! ganglioneuroblastoma (disease) intersection_of: MONDO:0005035 ! ganglioneuroblastoma (disease) @@ -13623,7 +13799,7 @@ xref: MESH:D001010 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C35014 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equivalentTo"} xref: SCTID:11806006 {source="MONDO:kboom-pr-0.69/0.37/0.09", source="MONDO:equivalentTo"} xref: UMLS:C1527281 {source="NCIT:C35014"} -is_a: MONDO:0005618 {source="DOID:10685", source="EFO:1001916", source="MESH:D001010", source="linkedlifedata"} ! anxiety disorder +is_a: MONDO:0005618 {source="DOID:10685", source="EFO:1001916", source="MESH:D001010", source="linkedlifedata", source="linkedlifedata/inferred"} ! anxiety disorder [Term] id: MONDO:0001099 @@ -13735,7 +13911,7 @@ xref: DOID:10719 {source="MONDO:equivalentTo"} xref: ICD9:242.00 {source="DOID:10719"} xref: SCTID:267374005 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0154138 {source="DOID:10719"} -is_a: MONDO:0004425 {source="DOID:10719", source="linkedlifedata"} ! hyperthyroidism +is_a: MONDO:0004425 {source="DOID:10719", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperthyroidism property_value: confidence "0.5" xsd:double [Term] @@ -13778,7 +13954,7 @@ xref: SCTID:266616000 {source="DOID:1074"} xref: SCTID:42399005 {source="MONDO:kboom-pr-1.00/0.78/6.89", source="DOID:1074", source="MONDO:equivalentTo"} xref: UMLS:C0035078 {source="NCIT:C4376", source="DOID:1074", source="MONDO:equivalentTo"} xref: UMLS:C1565489 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} -is_a: MONDO:0005240 {source="DOID:1074", source="MESH:D051437", source="linkedlifedata"} ! kidney disease +is_a: MONDO:0005240 {source="DOID:1074", source="MESH:D051437", source="NCIT:C4376/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease [Term] id: MONDO:0001107 @@ -13840,7 +14016,7 @@ xref: UMLS:C0155448 {source="DOID:10755", source="MONDO:equivalentTo"} xref: UMLS:C0155449 {source="DOID:10755"} xref: UMLS:C0155450 {source="DOID:10755"} is_a: MONDO:0005246 {source="DOID:10755", source="MESH:D059270"} ! osteomyelitis (disease) -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001694 ! petrous part of temporal bone relationship: disease_has_feature HP:0002754 ! Osteomyelitis @@ -13907,7 +14083,7 @@ xref: SCTID:194955008 {source="DOID:10778"} xref: SCTID:266238009 {source="DOID:10778", source="MONDO:kboom-pr-0.93/0.84/0.21", source="MONDO:equivalentTo"} xref: SCTID:91025000 {source="DOID:10778"} xref: UMLS:C0155689 {source="DOID:10778", source="MONDO:equivalentTo"} -is_a: MONDO:0004496 {source="ICD10:I40.1", source="MONDOLEX:0001113"} ! myocarditis +is_a: MONDO:0004496 {source="DOID:10778/inferred", source="ICD10:I40.1", source="MONDOLEX:0001113", source="linkedlifedata"} ! myocarditis relationship: excluded_subClassOf MONDO:0002815 {source="DOID:10778"} ! acute myocarditis relationship: has_modifier MONDO:0021128 ! has an isolated presentation @@ -13924,7 +14100,7 @@ xref: SCTID:194959002 {source="DOID:10779"} xref: SCTID:64043005 {source="MONDO:kboom-pr-1.00/0.79/8.40", source="DOID:10779", source="MONDO:equivalentTo"} xref: UMLS:C0155690 {source="DOID:10779", source="MONDO:equivalentTo"} xref: UMLS:C1384588 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004496 {source="ICD10:I40.0", source="MONDOLEX:0001114"} ! myocarditis +is_a: MONDO:0004496 {source="DOID:10779/inferred", source="ICD10:I40.0", source="MONDOLEX:0001114", source="NCIT:C128380", source="linkedlifedata/inferred"} ! myocarditis relationship: excluded_subClassOf MONDO:0002815 {source="DOID:10779"} ! acute myocarditis [Term] @@ -13946,7 +14122,7 @@ xref: SCTID:154840005 {source="DOID:10780"} xref: SCTID:17342003 {source="DOID:10780", source="MONDO:superClassOf"} xref: SCTID:267571003 {source="DOID:10780"} xref: UMLS:C0152264 {source="DOID:10780", source="NCIT:C26955"} -is_a: MONDO:0005571 {source="DOID:10780"} ! polycythemia (disease) +is_a: MONDO:0005571 {source="DOID:10780", source="NCIT:C26955/inferred"} ! polycythemia (disease) intersection_of: MONDO:0005571 ! polycythemia (disease) intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -13992,7 +14168,7 @@ xref: SCTID:191393006 {source="DOID:10783"} xref: SCTID:267549008 {source="DOID:10783"} xref: SCTID:38959009 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:10783", source="MONDO:equivalentTo"} xref: UMLS:C0025637 {source="NCIT:C34817", source="DOID:10783", source="MONDO:equivalentTo"} -is_a: MONDO:0044348 ! hemoglobinopathy +is_a: MONDO:0044348 {source="linkedlifedata"} ! hemoglobinopathy [Term] id: MONDO:0001118 @@ -14027,7 +14203,7 @@ xref: DOID:10787 {source="MONDO:equivalentTo"} xref: ICD10:E28.31 {source="DOID:10787"} xref: ICD10:E28.319 {source="DOID:10787"} xref: ICD9:256.31 {source="DOID:10787"} -xref: ICD9:256.39 {source="linkedlife"} +xref: ICD9:256.39 {source="linkedlifedata"} xref: MESH:D008594 {source="DOID:10787", source="MONDO:equivalentTo"} xref: NCIT:C80099 {source="DOID:10787", source="MONDO:kboom-pr-0.93/0.87/0.08", source="MONDO:equivalentTo"} xref: SCTID:154713003 {source="DOID:10787"} @@ -14038,8 +14214,8 @@ xref: SCTID:267486007 {source="DOID:10787"} xref: SCTID:373717006 {source="DOID:10787"} xref: SCTID:74296006 {source="DOID:10787"} xref: UMLS:C0025322 {source="DOID:10787", source="NCIT:C80099", source="MONDO:equivalentTo"} -is_a: MONDO:0001889 {source="DOID:10787", source="NCIT:C80099"} ! ovarian dysfunction -is_a: MONDO:0005387 {source="linkedlife"} ! primary ovarian failure +is_a: MONDO:0001889 {source="DOID:10787", source="NCIT:C80099", source="linkedlifedata/inferred"} ! ovarian dysfunction +is_a: MONDO:0005387 {source="linkedlifedata", source="linkedlifedata/inferred"} ! primary ovarian failure [Term] id: MONDO:0001120 @@ -14056,7 +14232,7 @@ xref: SCTID:195786002 {source="DOID:10790"} xref: SCTID:60130002 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10790", source="MONDO:equivalentTo"} xref: UMLS:C0008683 {source="NCIT:C34473", source="DOID:10790", source="MONDO:equivalentTo"} is_a: MONDO:0001121 {source="DOID:10790", source="MONDO:Entailed", source="MONDOLEX:0001120", source="NCIT:C34473", source="linkedlifedata"} ! frontal sinusitis -is_a: MONDO:0006031 {source="NCIT:C34473"} ! chronic rhinosinusitis +is_a: MONDO:0006031 {source="NCIT:C34473", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic rhinosinusitis intersection_of: MONDO:0001121 ! frontal sinusitis intersection_of: has_modifier PATO:0001863 ! chronic @@ -14100,6 +14276,7 @@ intersection_of: has_modifier PATO:0001863 ! chronic id: MONDO:0001123 name: chronic sphenoidal sinusitis def: "Inflammation of the sphenoid sinus that typically lasts beyond eight weeks. It is caused by infections, allergies, and the presence of sinus polyps or a deviated septum. Signs and symptoms include headache, nasal discharge, swelling in the face, dizziness, and breathing difficulties." [NCIT:P378] +synonym: "chronic sphenoid sinusitis" EXACT [MONDO:design_pattern] synonym: "sphenoid sinusitis, chronic" EXACT [MONDO:patterns/chronic] synonym: "sphenoidal sinus-chr." EXACT [DOID:10793, SCTID:266384001] xref: COHD:134661 {source="MONDO:equivalentTo"} @@ -14125,6 +14302,7 @@ replaced_by: MONDO:0016075 id: MONDO:0001125 name: acute gonococcal epididymo-orchitis def: "Acute form of gonococcal epididymo-orchitis." [MONDO:patterns/acute] +synonym: "Gonococcal epididymo-orchitis" EXACT [DOID:10802] synonym: "gonococcal epididymo-orchitis (acute)" EXACT [DOID:10802, ICD9CM_2006:098.13] synonym: "gonococcal epididymo-orchitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:10802 {source="MONDO:equivalentTo"} @@ -14159,6 +14337,7 @@ synonym: "chronic gastric ulcer without hemorrhage and without perforation" NARR synonym: "chronic gastric ulcer without hemorrhage and without perforation but with obstruction" NARROW [DOID:10808] synonym: "chronic gastric ulcer without mention of hemorrhage or perforation, with obstruction" NARROW [DOID:10808] synonym: "gastric ulcer" EXACT [MONDO:ambiguous] +synonym: "peptic ulcer disease of stomach" EXACT [MONDO:design_pattern] synonym: "stomach peptic ulcer disease" EXACT [MONDO:patterns/location] xref: COHD:4265600 {source="MONDO:equivalentTo"} xref: DOID:10808 {source="MONDO:equivalentTo"} @@ -14177,7 +14356,7 @@ xref: SCTID:266436006 {source="DOID:10808"} xref: SCTID:397825006 {source="MONDO:kboom-pr-1.00/0.85/6.48", source="DOID:10808", source="MONDO:equivalentTo"} xref: SCTID:6034002 {source="DOID:10808"} xref: UMLS:C0038358 {source="DOID:10808", source="NCIT:C3388", source="MONDO:equivalentTo"} -is_a: MONDO:0004247 {source="DOID:10808", source="MONDO:Entailed", source="NCIT:C3388"} ! peptic ulcer disease +is_a: MONDO:0004247 {source="DOID:10808", source="MESH:D013276", source="MONDO:Entailed", source="NCIT:C3388"} ! peptic ulcer disease is_a: MONDO:0004298 {source="MESH:D013276/inferred", source="MONDO:Entailed", source="NCIT:C3388/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! stomach disease intersection_of: MONDO:0004247 ! peptic ulcer disease intersection_of: disease_has_location UBERON:0000945 ! stomach @@ -14186,6 +14365,7 @@ intersection_of: disease_has_location UBERON:0000945 ! stomach id: MONDO:0001127 name: tibialis tendinitis def: "A tendinitis that involves the tibialis." [MONDO:patterns/location] +synonym: "tendinitis of tibialis" EXACT [MONDO:design_pattern] synonym: "tibialis tendinitis" EXACT [MONDO:patterns/location] synonym: "tibialis tendinitis (disorder)" EXACT [DOID:10810, SCTID:50127006] xref: COHD:77081 {source="MONDO:equivalentTo"} @@ -14219,8 +14399,8 @@ xref: SCTID:187832001 {source="DOID:10811"} xref: SCTID:363422006 {source="DOID:10811", source="MONDO:kboom-pr-1.00/0.80/9.06", source="MONDO:equivalentTo"} xref: SCTID:93917007 {source="DOID:10811"} xref: UMLS:C0728864 {source="DOID:10811", source="MONDO:equivalentTo", source="NCIT:C4918"} -is_a: MONDO:0000376 {source="DOID:10811", source="MONDO:Entailed", source="linkedlifedata"} ! respiratory system cancer -is_a: MONDO:0002232 {source="DOID:10811", source="MONDO:Redundant", source="NCIT:C4918/inferred"} ! nasal cavity disease +is_a: MONDO:0000376 {source="DOID:10811", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system cancer +is_a: MONDO:0002232 {source="DOID:10811", source="MONDO:Redundant", source="NCIT:C4918/inferred", source="linkedlifedata/inferred"} ! nasal cavity disease is_a: MONDO:0004756 {source="MONDO:Entailed", source="NCIT:C4918", source="linkedlifedata"} ! nasal cavity neoplasm is_a: MONDO:0005627 {source="MONDO:Entailed", source="NCIT:C4918", source="OWLReasoner:Elk-2018-01-05"} ! head and neck cancer intersection_of: MONDO:0004992 ! cancer @@ -14275,7 +14455,7 @@ xref: MESH:D012448 {source="MONDO:ontobio", source="DOID:10817", source="MONDO:e xref: NCIT:C94358 {source="DOID:10817", source="MONDO:equivalentTo"} xref: SCTID:59394009 {source="DOID:10817", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.73"} xref: UMLS:C0036913 {source="NCIT:C94358", source="DOID:10817"} -is_a: MONDO:0000595 {source="DOID:10817", source="NCIT:C94358", source="linkedlifedata"} ! sexual disorder +is_a: MONDO:0000595 {source="DOID:10817", source="NCIT:C94358", source="linkedlifedata", source="linkedlifedata/inferred"} ! sexual disorder [Term] id: MONDO:0001133 @@ -14348,7 +14528,7 @@ xref: DOID:10835 {source="MONDO:equivalentTo"} xref: ICD9:608.84 {source="DOID:10835", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:7864001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10835", source="MONDO:equivalentTo"} xref: UMLS:C0156315 {source="DOID:10835", source="MONDO:equivalentTo"} -is_a: MONDO:0003150 {source="DOID:10835"} ! male reproductive system disease +is_a: MONDO:0003150 {source="DOID:10835", source="linkedlifedata/inferred"} ! male reproductive system disease relationship: disease_has_location UBERON:0006650 ! tunica vaginalis testis [Term] @@ -14362,7 +14542,7 @@ xref: ICD10:A83.4 {source="DOID:10842", source="MONDO:equivalentTo"} xref: ICD9:062.4 {source="DOID:10842"} xref: SCTID:66454007 {source="DOID:10842", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0153066 {source="DOID:10842", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="DOID:10842", source="MONDO:Redundant", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:10842", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:11079 ! Murray Valley encephalitis virus relationship: disease_has_feature HP:0001289 ! Confusion @@ -14400,7 +14580,7 @@ xref: NCIT:C94356 {source="DOID:10849", source="MONDO:equivalentTo"} xref: SCTID:248104007 {source="DOID:10849"} xref: SCTID:51239001 {source="DOID:10849", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.73"} xref: UMLS:C0036908 {source="DOID:10849", source="NCIT:C94356"} -is_a: MONDO:0000595 {source="DOID:10849", source="NCIT:C94356", source="linkedlifedata"} ! sexual disorder +is_a: MONDO:0000595 {source="DOID:10849", source="NCIT:C94356", source="linkedlifedata", source="linkedlifedata/inferred"} ! sexual disorder [Term] id: MONDO:0001140 @@ -14429,6 +14609,7 @@ synonym: "disease of saliva-secreting gland" EXACT [MONDO:patterns/location_top] synonym: "disorder of saliva-secreting gland" RELATED [MONDO:patterns/location_top] synonym: "non-neoplastic salivary gland disease" EXACT [DOID:10854, NCIT:C27662] synonym: "saliva-secreting gland disease" EXACT [MONDO:patterns/location] +synonym: "saliva-secreting gland disease or disorder" EXACT [MONDO:design_pattern] synonym: "salivary gland disease" EXACT [DOID:10854, NCIT:C26879] synonym: "salivary gland disorder" EXACT [NCIT:C26879] xref: COHD:25572 {source="MONDO:equivalentTo"} @@ -14441,18 +14622,19 @@ xref: NCIT:C26879 {source="MONDO:equivalentTo"} xref: SCTID:10890000 {source="MONDO:kboom-pr-1.00/0.81/10.62", source="MONDO:equivalentTo"} xref: UMLS:C0029773 {source="DOID:10854"} xref: UMLS:C0036093 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C26879", source="MONDO:equivalentTo"} -is_a: MONDO:0006858 {source="DOID:10854", source="EFO:0008581", source="MESH:D012466", source="MONDO:Entailed", source="linkedlifedata"} ! mouth disease +is_a: MONDO:0006858 {source="DOID:10854", source="EFO:0008581", source="MESH:D012466", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease is_a: MONDO:0021059 {source="MONDO:Redundant", source="NCIT:C26879"} ! head or neck disease/disorder intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland [Term] id: MONDO:0001143 -name: paralytic squint +name: paralytic strabismus synonym: "incomitant dissociation" EXACT [DOID:10863, SCTID:155195008] -synonym: "paralytic strabismus" EXACT [DOID:10863, ICD9CM_2006:378.5] +synonym: "paralytic squint" EXACT DEPRECATED [DOID:10863] xref: COHD:381862 {source="MONDO:equivalentTo"} xref: DOID:10863 {source="MONDO:equivalentTo"} +xref: HP:0031775 xref: ICD10:H49 {source="DOID:10863"} xref: ICD10:H49.9 {source="DOID:10863"} xref: ICD9:378.5 {source="DOID:10863"} @@ -14477,8 +14659,8 @@ xref: SCTID:194118007 {source="DOID:10864", source="MONDO:kboom-pr-0.74/0.37/0.5 xref: SCTID:3171005 {source="DOID:10864"} xref: SCTID:420289002 {source="DOID:10864"} xref: UMLS:C0271370 {source="DOID:10864", source="MONDO:equivalentTo"} -is_a: MONDO:0001143 {source="DOID:10864"} ! paralytic squint -is_a: MONDO:0001309 {source="MONDO:cjm", source="linkedlife"} ! oculomotor nerve paralysis +is_a: MONDO:0001309 {source="MONDO:cjm", source="linkedlifedata"} ! oculomotor nerve paralysis +relationship: excluded_subClassOf MONDO:0001143 {source="DOID:10864"} ! paralytic strabismus [Term] id: MONDO:0001145 @@ -14492,8 +14674,8 @@ xref: MESH:D015840 {source="DOID:10866", source="MONDO:subClassOf"} xref: SCTID:194119004 {source="MONDO:kboom-pr-1.00/0.78/7.03", source="DOID:10866", source="MONDO:equivalentTo"} xref: SCTID:85522003 {source="DOID:10866"} xref: UMLS:C0271371 {source="DOID:10866", source="MONDO:equivalentTo"} -is_a: MONDO:0001143 {source="DOID:10866"} ! paralytic squint -is_a: MONDO:0001309 {source="MONDO:cjm", source="linkedlife"} ! oculomotor nerve paralysis +is_a: MONDO:0001309 {source="MONDO:cjm", source="linkedlifedata"} ! oculomotor nerve paralysis +relationship: excluded_subClassOf MONDO:0001143 {source="DOID:10866"} ! paralytic strabismus [Term] id: MONDO:0001146 @@ -14506,9 +14688,9 @@ xref: COHD:378439 {source="MONDO:equivalentTo"} xref: DOID:10869 {source="MONDO:equivalentTo"} xref: ICD9:378.53 {source="i2s", source="MONDO:equivalentTo"} xref: SCTID:20610004 {source="MONDO:kboom-pr-1.00/0.79/7.35", source="MONDO:equivalentTo"} -is_a: MONDO:0001143 {source="DOID:10869"} ! paralytic squint intersection_of: MONDO:0002782 ! cranial nerve palsy intersection_of: disease_has_location UBERON:0001644 ! trochlear nerve +relationship: excluded_subClassOf MONDO:0001143 {source="DOID:10869"} ! paralytic strabismus [Term] id: MONDO:0001147 @@ -14533,7 +14715,7 @@ xref: SCTID:32941003 {source="DOID:1088"} xref: UMLS:C0009730 {source="NCIT:C101209"} xref: UMLS:C0025299 {source="DOID:1088", source="MONDO:equivalentTo"} xref: UMLS:C1261470 {source="NCIT:C105595"} -is_a: MONDO:0002320 {source="NCIT:C105595"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="NCIT:C105595"} ! congenital nervous system disorder relationship: excluded_subClassOf MONDO:0008449 {source="DOID:1088"} ! spina bifida (disease) [Term] @@ -14543,6 +14725,7 @@ def: "A thrombophlebitis that involves the iliac vein." [MONDO:patterns/location synonym: "iliac vein thrombophlebitis" EXACT [MONDO:patterns/location] synonym: "phlebitis and thrombophlebitis of the iliac vein" EXACT [DOID:10880] synonym: "phlebitis and thrombophlebitis of the iliac vein NOS (disorder)" EXACT [DOID:10880, SCTID:195429006] +synonym: "thrombophlebitis of iliac vein" EXACT [MONDO:design_pattern] xref: DOID:10880 {source="MONDO:equivalentTo"} xref: ICD10:I80.21 {source="DOID:10880"} xref: ICD9:451.81 {source="DOID:10880"} @@ -14581,7 +14764,7 @@ xref: SCTID:1829003 {source="DOID:10907", source="MONDO:equivalentTo", source="M xref: SCTID:204030002 {source="DOID:10907"} xref: SCTID:204031003 {source="DOID:10907"} xref: UMLS:C0025958 {source="NCIT:C85874", source="GARD:0003603", source="DOID:10907"} -is_a: MONDO:0002320 {source="DOID:10907"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="DOID:10907"} ! congenital nervous system disorder [Term] id: MONDO:0001150 @@ -14662,7 +14845,7 @@ xref: MESH:D000068116 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:191782007 {source="DOID:10919"} xref: SCTID:93461009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0040630 {source="DOID:10919"} -is_a: MONDO:0001500 {source="DOID:10919", source="linkedlifedata"} ! gender identity disorder +is_a: MONDO:0001500 {source="DOID:10919", source="linkedlifedata", source="linkedlifedata/inferred"} ! gender identity disorder [Term] id: MONDO:0001154 @@ -14743,7 +14926,7 @@ xref: NCIT:C92633 {source="DOID:10930", source="MONDO:kboom-pr-0.94/0.84/0.77", xref: SCTID:192488005 {source="DOID:10930"} xref: SCTID:20010003 {source="DOID:10930", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0006012 {source="DOID:10930", source="NCIT:C92633"} -is_a: MONDO:0002028 {source="DOID:10930", source="NCIT:C92633", source="linkedlifedata"} ! personality disorder (disease) +is_a: MONDO:0002028 {source="DOID:10930", source="NCIT:C92633", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease) [Term] id: MONDO:0001157 @@ -14783,7 +14966,7 @@ xref: SCTID:191762008 {source="DOID:10932"} xref: SCTID:192490006 {source="DOID:10932"} xref: SCTID:271200007 {source="DOID:10932"} xref: UMLS:C0009595 {source="NCIT:C92638", source="DOID:10932"} -is_a: MONDO:0002028 {source="DOID:10932", source="NCIT:C92638", source="linkedlifedata"} ! personality disorder (disease) +is_a: MONDO:0002028 {source="DOID:10932", source="NCIT:C92638", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease) relationship: realized_in MFOMD:0000107 relationship: realized_in MFOMD:0000109 @@ -14840,7 +15023,7 @@ xref: SCTID:191758002 {source="DOID:10936"} xref: SCTID:192486009 {source="DOID:10936"} xref: SCTID:52954000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10936", source="MONDO:equivalentTo"} xref: UMLS:C0036339 {source="NCIT:C92631", source="DOID:10936"} -is_a: MONDO:0002028 {source="DOID:10936", source="NCIT:C92631", source="linkedlifedata"} ! personality disorder (disease) +is_a: MONDO:0002028 {source="DOID:10936", source="NCIT:C92631", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease) relationship: disease_has_feature HP:0000741 ! Apathy [Term] @@ -14878,7 +15061,7 @@ xref: SCTID:191750009 {source="DOID:10938"} xref: SCTID:192485008 {source="DOID:10938"} xref: SCTID:270529002 {source="DOID:10938"} xref: UMLS:C0030477 {source="DOID:10938", source="NCIT:C92630"} -is_a: MONDO:0002028 {source="DOID:10938", source="NCIT:C92630", source="linkedlifedata"} ! personality disorder (disease) +is_a: MONDO:0002028 {source="DOID:10938", source="NCIT:C92630", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease) [Term] id: MONDO:0001164 @@ -14904,7 +15087,7 @@ xref: SCTID:192487000 {source="DOID:10939"} xref: SCTID:26665006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10939", source="MONDO:equivalentTo"} xref: SCTID:268759009 {source="DOID:10939"} xref: UMLS:C0003431 {source="NCIT:C88413", source="DOID:10939"} -is_a: MONDO:0002028 {source="DOID:10939", source="NCIT:C88413", source="linkedlifedata"} ! personality disorder (disease) +is_a: MONDO:0002028 {source="DOID:10939", source="NCIT:C88413", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease) [Term] id: MONDO:0001165 @@ -14913,6 +15096,7 @@ def: "A disease involving the tongue." [MONDO:DesignPattern] synonym: "disease of tongue" EXACT [MONDO:patterns/location_top] synonym: "disorder of tongue" RELATED [MONDO:patterns/location_top] synonym: "tongue disease" EXACT [MONDO:patterns/location] +synonym: "tongue disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:10944 {source="MONDO:equivalentTo"} xref: ICD10:K14 {source="DOID:10944"} xref: ICD10:K14.9 {source="DOID:10944"} @@ -14926,7 +15110,7 @@ xref: SCTID:196595001 {source="DOID:10944"} xref: SCTID:266496009 {source="DOID:10944"} xref: SCTID:69244009 {source="DOID:10944", source="MONDO:kboom-pr-1.00/0.81/10.81", source="MONDO:equivalentTo"} xref: UMLS:C0040409 {source="DOID:10944", source="MONDO:equivalentTo"} -is_a: MONDO:0006858 {source="DOID:10944", source="MESH:D014060", source="MONDO:Entailed", source="linkedlife", source="linkedlifedata"} ! mouth disease +is_a: MONDO:0006858 {source="DOID:10944", source="MESH:D014060", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001723 ! tongue @@ -14950,8 +15134,8 @@ xref: SCTID:266615001 {source="DOID:10952"} xref: SCTID:274107001 {source="DOID:10952"} xref: SCTID:52845002 {source="DOID:10952", source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0027697 {source="DOID:10952", source="MONDO:equivalentTo", source="NCIT:C26833"} -is_a: MONDO:0005240 {source="DOID:10952", source="MESH:D009393", source="MONDO:Entailed", source="linkedlifedata"} ! kidney disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0005240 {source="DOID:10952", source="MESH:D009393", source="MONDO:Entailed", source="NCIT:C26833/inferred", source="linkedlifedata"} ! kidney disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0002113 ! kidney @@ -14977,7 +15161,7 @@ xref: SCTID:281411007 {source="DOID:10965", source="MONDO:kboom-pr-0.93/0.83/0.5 xref: UMLS:C0023882 {source="DOID:10965", source="NCIT:C34781"} xref: UMLS:C0154695 {source="DOID:10965"} is_a: MONDO:0000396 {source="DOID:10965", source="MONDOLEX:0001167"} ! spastic cerebral palsy -is_a: MONDO:0006497 {source="MONDO:0001167/inferred", source="MONDO:Redundant", source="MONDOLEX:0001167/inferred", source="NCIT:C34781"} ! cerebral palsy +is_a: MONDO:0006497 {source="DOID:10965/inferred", source="MONDO:0001167/inferred", source="MONDO:Redundant", source="MONDOLEX:0001167/inferred", source="NCIT:C34781"} ! cerebral palsy [Term] id: MONDO:0001168 @@ -14998,7 +15182,7 @@ xref: SCTID:79633009 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equi xref: UMLS:C0154694 {source="NCIT:C116905"} xref: UMLS:C0270805 {source="DOID:10967", source="MONDO:equivalentTo"} is_a: MONDO:0000396 {source="DOID:10967"} ! spastic cerebral palsy -is_a: MONDO:0006497 {source="MONDO:Redundant", source="NCIT:C116905"} ! cerebral palsy +is_a: MONDO:0006497 {source="DOID:10967/inferred", source="MONDO:Redundant", source="NCIT:C116905"} ! cerebral palsy [Term] id: MONDO:0001169 @@ -15034,7 +15218,7 @@ xref: SCTID:192955007 {source="DOID:10969"} xref: SCTID:267696006 {source="DOID:10969"} xref: UMLS:C0018991 {source="GARD:0006583"} xref: UMLS:C0392550 {source="DOID:10969"} -is_a: MONDO:0002602 {source="DOID:10969", source="linkedlife/inferred"} ! central nervous system disease +is_a: MONDO:0002602 {source="DOID:10969", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! central nervous system disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6583/hemiplegia xsd:anyURI {source="GARD:0006583"} [Term] @@ -15103,6 +15287,7 @@ name: conjunctival vascular disease def: "A disorder of the vasculature of the cornea." [NCIT:P378] synonym: "conjunctival vascular abnormality" EXACT [DOID:10989, SCTID:193900004] synonym: "conjunctival vasculature disease" EXACT [MONDO:patterns/location] +synonym: "conjunctival vasculature disease or disorder" EXACT [MONDO:design_pattern] synonym: "disease of conjunctival vasculature" EXACT [MONDO:patterns/location_top] synonym: "disorder of conjunctival vasculature" RELATED [MONDO:patterns/location_top] synonym: "vascular abnormalities of conjunctiva" EXACT [DOID:10989, ICD9CM_2006:372.74] @@ -15113,7 +15298,7 @@ xref: NCIT:C35116 {source="DOID:10989", source="MONDO:equivalentTo"} xref: SCTID:193900004 {source="DOID:10989"} xref: SCTID:74100001 {source="DOID:10989", source="MONDO:kboom-pr-1.00/0.79/8.31", source="MONDO:equivalentTo"} xref: UMLS:C0042370 {source="DOID:10989"} -is_a: MONDO:0002932 {source="DOID:10989", source="MONDO:Entailed"} ! conjunctival disease +is_a: MONDO:0002932 {source="DOID:10989", source="MONDO:Entailed", source="linkedlifedata"} ! conjunctival disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0010366 ! conjunctival vasculature @@ -15133,7 +15318,7 @@ xref: SCTID:52421005 {source="DOID:10997"} xref: UMLS:C0271163 {source="DOID:10997", source="MONDO:equivalentTo"} xref: UMLS:C2939157 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C2960113 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="MONDO:cjm", source="linkedlife"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID:10997/inferred", source="MONDO:cjm", source="linkedlifedata"} ! cataract (disease) relationship: excluded_subClassOf MONDO:0004847 {source="DOID:10997"} ! senile cataract [Term] @@ -15145,6 +15330,7 @@ synonym: "disease of lens of camera-type eye" EXACT [MONDO:patterns/location_top synonym: "disorder of lens of camera-type eye" RELATED [MONDO:patterns/location_top] synonym: "lens disorder" EXACT [NCIT:C26812] synonym: "lens of camera-type eye disease" EXACT [MONDO:patterns/location] +synonym: "lens of camera-type eye disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:110 {source="MONDO:equivalentTo"} xref: ICD10:H25-H28 {source="DOID:110"} xref: ICD10:H27.9 {source="DOID:110"} @@ -15155,7 +15341,7 @@ xref: SCTID:10810001 {source="DOID:110", source="MONDO:equivalentTo"} xref: SCTID:194158009 {source="DOID:110"} xref: SCTID:194613002 {source="DOID:110"} xref: UMLS:C0023308 {source="NCIT:C26812", source="DOID:110", source="MONDO:equivalentTo"} -is_a: MONDO:0005328 {source="DOID:110", source="MESH:D007905", source="MONDO:Entailed", source="NCIT:C26812", source="linkedlife", source="linkedlife/inferred"} ! eye disease +is_a: MONDO:0005328 {source="DOID:110", source="MESH:D007905", source="MONDO:Entailed", source="NCIT:C26812", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000965 ! lens of camera-type eye @@ -15176,7 +15362,7 @@ xref: SCTID:197216007 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:1101 xref: SCTID:197218008 {source="DOID:11014"} xref: SCTID:68627009 {source="DOID:11014"} xref: UMLS:C0156183 {source="DOID:11014"} -is_a: MONDO:0002519 {source="DOID:11014"} ! anus disease +is_a: MONDO:0002519 {source="DOID:11014", source="linkedlifedata"} ! anus disease [Term] id: MONDO:0001178 @@ -15185,7 +15371,7 @@ xref: DOID:11028 {source="MONDO:equivalentTo"} xref: ICD9:372.52 {source="DOID:11028", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:66139007 {source="DOID:11028", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0155161 {source="DOID:11028", source="MONDO:equivalentTo"} -is_a: MONDO:0000942 {source="DOID:11028", source="linkedlife/inferred"} ! corneal disease +is_a: MONDO:0000942 {source="DOID:11028", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease is_a: MONDO:0000949 {source="DOID:11028"} ! conjunctival degeneration [Term] @@ -15251,7 +15437,7 @@ xref: ICD9:371.24 {source="i2s", source="DOID:11034", source="MONDO:equivalentTo xref: SCTID:193816001 {source="DOID:11034"} xref: SCTID:49362009 {source="MONDO:kboom-pr-1.00/0.80/9.39", source="DOID:11034", source="MONDO:equivalentTo"} xref: UMLS:C0474442 {source="DOID:11034", source="MONDO:equivalentTo"} -is_a: MONDO:0006712 {source="DOID:11034", source="linkedlifedata"} ! corneal edema +is_a: MONDO:0006712 {source="DOID:11034", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal edema [Term] id: MONDO:0001184 @@ -15282,7 +15468,7 @@ xref: SCTID:191716000 {source="DOID:11037"} xref: SCTID:192420000 {source="DOID:11037"} xref: SCTID:84209002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11037", source="MONDO:equivalentTo"} xref: UMLS:C0236795 {source="NCIT:C94328", source="DOID:11037"} -is_a: MONDO:0001160 {source="MONDO:Entailed", source="NCIT:C94328", source="OWLReasoner:2017"} ! dissociative disorder +is_a: MONDO:0001160 {source="DOID:11037", source="MONDO:Entailed", source="NCIT:C94328", source="OWLReasoner:2017"} ! dissociative disorder intersection_of: MONDO:0001160 ! dissociative disorder intersection_of: disease_disrupts GO:0007613 ! memory @@ -15487,7 +15673,7 @@ xref: SCTID:186771002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: SCTID:186773004 {source="DOID:11104"} xref: SCTID:187385002 {source="DOID:11104"} xref: UMLS:C0038041 {source="MONDO:equivalentTo", source="DOID:11104"} -is_a: MONDO:0006956 {source="Orphanet:102022", source="linkedlife", source="linkedlife/inferred"} ! rickettsiosis +is_a: MONDO:0006956 {source="Orphanet:102022", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! rickettsiosis relationship: realized_in_response_to_stimulus NCBITaxon:780 ! Rickettsia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4998/spotted-fever xsd:anyURI {source="GARD:0004998"} @@ -15561,7 +15747,7 @@ xref: DOID:11129 {source="MONDO:equivalentTo"} xref: ICD9:385.23 {source="DOID:11129", source="i2s", source="MONDO:relatedTo"} xref: SCTID:87040007 {source="MONDO:equivalentTo"} xref: UMLS:C0155487 {source="DOID:11129"} -is_a: MONDO:0002409 {source="DOID:11129"} ! auditory system disease +is_a: MONDO:0002409 {source="DOID:11129", source="linkedlifedata/inferred"} ! auditory system disease [Term] id: MONDO:0001200 @@ -15594,7 +15780,7 @@ xref: ICD9:599.89 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:600.3 {source="i2s", source="DOID:11133", source="MONDO:equivalentTo"} xref: SCTID:409658007 {source="DOID:11133", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1443972 {source="DOID:11133", source="MONDO:equivalentTo"} -is_a: MONDO:0003105 ! prostate disease +is_a: MONDO:0003105 {source="DOID:11133/inferred", source="linkedlifedata"} ! prostate disease relationship: excluded_subClassOf MONDO:0001201 {source="DOID:11133"} [Term] @@ -15607,7 +15793,7 @@ xref: ICD10:H04.16 {source="DOID:11134"} xref: ICD9:375.16 {source="i2s", source="DOID:11134", source="MONDO:equivalentTo"} xref: SCTID:84777002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:11134", source="MONDO:equivalentTo"} xref: UMLS:C0155231 {source="DOID:11134", source="MONDO:equivalentTo"} -is_a: MONDO:0001854 {source="DOID:11134", source="MONDO:Redundant", source="linkedlifedata"} ! lacrimal apparatus disease +is_a: MONDO:0001854 {source="DOID:11134", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease relationship: disease_has_location UBERON:0001817 ! lacrimal gland [Term] @@ -15705,7 +15891,7 @@ xref: SCTID:367507002 {source="DOID:11165"} xref: SCTID:57019003 {source="DOID:11165", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.98"} xref: SCTID:75003008 {source="DOID:11165"} xref: UMLS:C0043037 {source="NCIT:C27087", source="DOID:11165", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="DOID:11165", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:11165", source="MESH:D014860/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease is_a: MONDO:0024666 {source="NCIT:C27087"} ! benign epithelial skin neoplasm relationship: realized_in_response_to_stimulus NCBITaxon:169495 ! This relationship: realized_in_response_to_stimulus NCBITaxon:173087 ! Human papillomavirus types @@ -15739,9 +15925,9 @@ xref: ICD9:367.52 {source="i2s", source="DOID:11177", source="MONDO:equivalentTo xref: SCTID:193630009 {source="DOID:11177"} xref: SCTID:86266009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11177", source="MONDO:equivalentTo"} xref: UMLS:C0152197 {source="DOID:11177", source="MONDO:equivalentTo"} -is_a: MONDO:0000926 {source="DOID:11177", source="linkedlifedata"} ! eye accommodation disease -is_a: MONDO:0001309 {source="SCTID:86266009", source="linkedlifedata"} ! oculomotor nerve paralysis -is_a: MONDO:0002285 {source="DOID:11177", source="SCTID:86266009", source="linkedlifedata"} ! pupil disease +is_a: MONDO:0000926 {source="DOID:11177", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye accommodation disease +is_a: MONDO:0001309 {source="linkedlifedata"} ! oculomotor nerve paralysis +is_a: MONDO:0002285 {source="DOID:11177", source="linkedlifedata"} ! pupil disease [Term] id: MONDO:0001212 @@ -15760,7 +15946,7 @@ xref: SCTID:267753007 {source="DOID:11180"} xref: SCTID:275481002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11180", source="MONDO:equivalentTo"} xref: SCTID:45935001 {source="DOID:11180"} xref: UMLS:C0271446 {source="DOID:11180", source="MONDO:equivalentTo"} -is_a: MONDO:0005441 {source="DOID:11180", source="SCTID:275481002", source="linkedlifedata"} ! otitis media (disease) +is_a: MONDO:0005441 {source="DOID:11180", source="linkedlifedata"} ! otitis media (disease) [Term] id: MONDO:0001213 @@ -15781,7 +15967,7 @@ xref: SCTID:194245001 {source="DOID:11181"} xref: SCTID:194250007 {source="DOID:11181"} xref: SCTID:81564005 {source="DOID:11181", source="MONDO:kboom-pr-0.76/0.38/0.67", source="MONDO:equivalentTo"} xref: UMLS:C0155421 {source="DOID:11181", source="MONDO:equivalentTo"} -is_a: MONDO:0001212 {source="DOID:11181", source="MONDO:Redundant", source="linkedlifedata"} ! non-suppurative otitis media +is_a: MONDO:0001212 {source="DOID:11181", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! non-suppurative otitis media is_a: MONDO:0021203 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! serous otitis media is_a: MONDO:0021206 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! chronic non-suppurative otitis media intersection_of: MONDO:0021203 ! serous otitis media @@ -15854,7 +16040,6 @@ is_a: MONDO:0001214 {source="DOID:11190"} ! acute conjunctivitis is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0006668 {source="MONDO:Entailed", source="NCIT:C35196"} ! bacterial conjunctivitis relationship: disease_has_feature MONDO:0003799 ! conjunctivitis (disease) -relationship: realized_in_response_to_stimulus NCBITaxon:1717 {source="Wikidata"} ! Corynebacterium diphtheriae property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8446/conjunctivitis-with-pseudomembrane xsd:anyURI {source="GARD:0008446"} [Term] @@ -15867,7 +16052,7 @@ xref: ICD10:J06.0 {source="DOID:11195", source="MONDO:equivalentTo"} xref: ICD9:465.0 {source="DOID:11195", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:55355000 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11195", source="MONDO:equivalentTo"} xref: UMLS:C0155817 {source="DOID:11195", source="MONDO:equivalentTo"} -is_a: MONDO:0004867 {source="DOID:11195", source="linkedlifedata"} ! upper respiratory tract disease +is_a: MONDO:0004867 {source="DOID:11195", source="linkedlifedata", source="linkedlifedata/inferred"} ! upper respiratory tract disease [Term] id: MONDO:0001219 @@ -15916,10 +16101,13 @@ synonym: "bleeding esophageal varices (disorder)" NARROW [DOID:112] synonym: "bleeding oesophageal varices" NARROW [DOID:112] synonym: "esophageal varices" EXACT [DOID:112, NCIT:C53506] synonym: "esophageal varices in disease classified elsewhere, with bleeding" EXACT [DOID:112] +synonym: "esophageal varices with bleeding" EXACT [DOID:112] synonym: "esophageal varices with bleeding in disease EC" EXACT [DOID:112] +synonym: "esophageal varices without bleeding" EXACT [DOID:112] synonym: "esophageal varices without mention of bleeding" EXACT [DOID:112] synonym: "esophageal varix" EXACT [NCIT:C53506] synonym: "esophagus varicose disease" EXACT [MONDO:patterns/location] +synonym: "varicose disease of esophagus" EXACT [MONDO:design_pattern] xref: DOID:112 {source="MONDO:equivalentTo"} xref: GARD:0006384 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICD10:I85 {source="MONDO:equivalentTo"} @@ -15941,8 +16129,8 @@ xref: UMLS:C0014867 {source="NCIT:C53506"} xref: UMLS:C0155789 {source="DOID:112"} xref: UMLS:C0155791 {source="DOID:112"} xref: UMLS:C0155792 {source="DOID:112"} -is_a: MONDO:0003749 {source="MESH:D004932", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-16"} ! esophageal disease -is_a: MONDO:0004634 {source="DOID:112", source="MONDO:Redundant", source="linkedlifedata"} ! vein disease +is_a: MONDO:0003749 {source="DOID:112", source="MESH:D004932", source="MONDO:Entailed", source="NCIT:C53506/inferred", source="OWLReasoner:Elk-2018-01-16"} ! esophageal disease +is_a: MONDO:0004634 {source="DOID:112", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! vein disease intersection_of: MONDO:0008638 ! varicose disease intersection_of: disease_has_location UBERON:0001043 ! esophagus @@ -15955,9 +16143,10 @@ synonym: "T cell deficiency" RELATED [DOID:11200] xref: DOID:11200 {source="MONDO:equivalentTo"} xref: NCIT:C27872 {source="NCIT:C27872", source="DOID:11200", source="MONDO:equivalentTo"} xref: UMLS:C1333147 {source="NCIT:C27872", source="DOID:11200", source="MONDO:equivalentTo"} -is_a: MONDO:0003778 {source="DOID:11200"} ! primary immunodeficiency disease is_a: MONDO:0003780 {source="MONDOLEX:0001222", source="NCIT:C27872"} ! T-cell immunodeficiency is_a: MONDO:0003847 {source="NCIT:C27872"} ! inherited genetic disease +relationship: excluded_subClassOf MONDO:0003778 {source="DOID:11200"} ! primary immunodeficiency disease +relationship: has_modifier MONDO:0021140 ! congenital [Term] id: MONDO:0001223 @@ -15968,6 +16157,7 @@ synonym: "disease of parathyroid glands" EXACT [DOID:11201] synonym: "disorder of parathyroid gland" RELATED [MONDO:patterns/location_top] synonym: "parathyroid disease" EXACT [MONDO:0005553] synonym: "parathyroid gland disease" EXACT [MONDO:patterns/location, NCIT:C26844] +synonym: "parathyroid gland disease or disorder" EXACT [MONDO:design_pattern] synonym: "parathyroid gland diseases" EXACT [NCIT:C26844] synonym: "parathyroid gland disorder" EXACT [NCIT:C26844] synonym: "parathyroid gland disorders" EXACT [NCIT:C26844] @@ -16004,7 +16194,7 @@ xref: SCTID:193863004 {source="DOID:11203"} xref: SCTID:67678004 {source="MONDO:kboom-pr-1.00/0.80/8.72", source="MONDO:equivalentTo", source="DOID:11203"} xref: UMLS:C0001309 {source="NCIT:C34353", source="MONDO:equivalentTo", source="DOID:11203"} is_a: MONDO:0001214 {source="NCIT:C34353", source="linkedlifedata"} ! acute conjunctivitis -is_a: MONDO:0005642 {source="DOID:11203", source="NCIT:C34353", source="linkedlifedata"} ! atopic conjunctivitis +is_a: MONDO:0005642 {source="DOID:11203", source="NCIT:C34353", source="linkedlifedata", source="linkedlifedata/inferred"} ! atopic conjunctivitis [Term] id: MONDO:0001225 @@ -16015,7 +16205,7 @@ xref: ICD10:F11.1 {source="DOID:11206"} xref: ICD9:305.5 {source="DOID:11206"} xref: SCTID:5602001 {source="DOID:11206", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0029095 {source="DOID:11206"} -is_a: MONDO:0002491 {source="DOID:11206", source="linkedlifedata"} ! substance abuse +is_a: MONDO:0002491 {source="DOID:11206", source="linkedlifedata", source="linkedlifedata/inferred"} ! substance abuse [Term] id: MONDO:0001226 @@ -16041,6 +16231,7 @@ is_a: MONDO:0001214 {source="DOID:11213", source="NCIT:C35704"} ! acute conjunct id: MONDO:0001227ub name: chronic tympanitis def: "Chronic form of tympanitis." [MONDO:patterns/chronic] +synonym: "tympanitis, chronic" EXACT [MONDO:0001227ub] xref: COHD:372652 {source="MONDO:equivalentTo"} xref: DOID:11217 {source="MONDO:equivalentTo"} xref: ICD10:H73.1 {source="DOID:11217"} @@ -16048,7 +16239,7 @@ xref: ICD10:H73.10 {source="DOID:11217"} xref: ICD9:384.1 {source="DOID:11217", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:89723004 {source="DOID:11217", source="MONDO:kboom-pr-1.00/0.84/15.07", source="MONDO:equivalentTo"} xref: UMLS:C0395849 {source="DOID:11217", source="MONDO:equivalentTo"} -is_a: MONDO:0003648 {source="DOID:11217", source="linkedlife/inferred"} ! tympanic membrane disease +is_a: MONDO:0003648 {source="DOID:11217", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! tympanic membrane disease intersection_of: MONDO:0024616 ! tympanitis intersection_of: has_modifier PATO:0001863 ! chronic @@ -16068,6 +16259,7 @@ is_a: MONDO:0001214 {source="DOID:11219", source="linkedlifedata"} ! acute conju id: MONDO:0001229 name: small intestine diverticulitis def: "A diverticulitis that involves the small intestine." [MONDO:patterns/location] +synonym: "diverticulitis of small intestine" EXACT [MONDO:design_pattern] synonym: "diverticulosis of small intestine with hemorrhage" EXACT [DOID:11223] synonym: "small intestine diverticulitis" EXACT [MONDO:patterns/location] xref: COHD:193239 {source="MONDO:equivalentTo"} @@ -16077,7 +16269,7 @@ xref: ICD9:562.02 {source="DOID:11223"} xref: SCTID:435061000124102 {source="DOID:11223"} xref: SCTID:56165008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.73"} xref: UMLS:C0156164 {source="DOID:11223", source="MONDO:equivalentTo"} -is_a: MONDO:0004235 {source="DOID:11223", source="MONDO:Entailed", source="linkedlifedata"} ! diverticulitis +is_a: MONDO:0004235 {source="DOID:11223", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! diverticulitis intersection_of: MONDO:0004235 ! diverticulitis intersection_of: disease_has_location UBERON:0002108 ! small intestine @@ -16148,7 +16340,7 @@ xref: SCTID:194330006 {source="DOID:11235"} xref: SCTID:194331005 {source="DOID:11235"} xref: SCTID:7699004 {source="MONDO:kboom-pr-1.00/0.78/6.97", source="DOID:11235", source="MONDO:equivalentTo"} xref: UMLS:C0155478 {source="DOID:11235", source="MONDO:equivalentTo"} -is_a: MONDO:0002409 {source="DOID:11235"} ! auditory system disease +is_a: MONDO:0002409 {source="DOID:11235", source="linkedlifedata/inferred"} ! auditory system disease [Term] id: MONDO:0001235 @@ -16177,7 +16369,7 @@ xref: SCTID:363411007 {source="DOID:11239", source="MONDO:kboom-pr-1.00/0.92/29. xref: SCTID:93679002 {source="DOID:11239"} xref: UMLS:C0496779 {source="DOID:11239", source="MONDO:equivalentTo", source="NCIT:C9333"} is_a: MONDO:0001236 {source="MONDO:Entailed", source="NCIT:C9333", source="OWLReasoner:2017", source="linkedlifedata"} ! appendiceal neoplasm -is_a: MONDO:0002516 {source="MONDO:Redundant", source="NCIT:C9333"} ! digestive system cancer +is_a: MONDO:0002516 {source="DOID:11239/inferred", source="MONDO:Redundant", source="NCIT:C9333"} ! digestive system cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix @@ -16215,6 +16407,7 @@ synonym: "appendiceal lymphoma" EXACT [DOID:11241, NCIT:C5513] synonym: "appendix lymphoma" EXACT [NCIT:C5513] synonym: "lymphoma of appendix" EXACT [NCIT:C5513] synonym: "lymphoma of the appendix" EXACT [NCIT:C5513] +synonym: "lymphoma of vermiform appendix" EXACT [MONDO:design_pattern] synonym: "primary appendix lymphoma" EXACT [NCIT:C5513] synonym: "vermiform appendix lymphoma" EXACT [MONDO:patterns/location] xref: DOID:11241 {source="MONDO:equivalentTo"} @@ -16259,7 +16452,7 @@ xref: NCIT:C97167 {source="DOID:11243", source="MONDO:kboom-pr-1.00/0.93/31.20", xref: SCTID:47100003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11243", source="MONDO:equivalentTo"} xref: UMLS:C0158996 {source="NCIT:C97167", source="DOID:11243", source="MONDO:equivalentTo"} is_a: MONDO:0001240 {source="DOID:11243"} ! neonatal anemia -is_a: MONDO:0002280 {source="MONDO:Redundant", source="NCIT:C97167", source="linkedlifedata"} ! anemia (disease) +is_a: MONDO:0002280 {source="DOID:11243/inferred", source="MONDO:Redundant", source="NCIT:C97167", source="linkedlifedata"} ! anemia (disease) [Term] id: MONDO:0001240 @@ -16330,7 +16523,7 @@ xref: SCTID:267563002 {source="DOID:11247"} xref: SCTID:67406007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:11247"} xref: UMLS:C0012739 {source="NCIT:C2992", source="MONDO:equivalentTo", source="DOID:11247"} xref: UMLS:C4321305 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0001531 {source="MESH:D004211", source="MONDO:Redundant", source="NCIT:C2992", source="linkedlife"} ! blood coagulation disease +is_a: MONDO:0001531 {source="DOID:11247/inferred", source="MESH:D004211", source="MONDO:Redundant", source="NCIT:C2992", source="linkedlifedata"} ! blood coagulation disease is_a: MONDO:0002305 {source="DOID:11247", source="MESH:D004211"} ! thrombophilia relationship: has_modifier MONDO:0022202 ! disseminated @@ -16354,7 +16547,7 @@ xref: SCTID:124892003 {source="DOID:11249"} xref: SCTID:52675005 {source="DOID:11249", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0042880 {source="DOID:11249", source="NCIT:C99108", source="MONDO:equivalentTo"} xref: UMLS:C0272348 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0006873 {source="DOID:11249", source="MESH:D014813/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! nutritional deficiency disease +is_a: MONDO:0006873 {source="DOID:11249", source="MESH:D014813/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease is_a: MONDO:0024298 {source="MESH:D014813", source="NCIT:C99108", source="linkedlifedata"} ! vitamin deficiency disorder [Term] @@ -16449,7 +16642,7 @@ xref: SCTID:191720001 {source="DOID:11257"} xref: SCTID:192395002 {source="DOID:11257"} xref: SCTID:25501002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:11257", source="MONDO:equivalentTo"} xref: UMLS:C0031572 {source="NCIT:C34927", source="DOID:11257"} -is_a: MONDO:0003699 {source="DOID:11257", source="EFO:1001917", source="linkedlifedata"} ! phobic disorder +is_a: MONDO:0003699 {source="DOID:11257", source="EFO:1001917", source="NCIT:C34927", source="linkedlifedata"} ! phobic disorder relationship: disease_disrupts GO:0035176 ! social behavior [Term] @@ -16489,7 +16682,7 @@ xref: UMLS:C0040592 {source="DOID:11265", source="MONDO:equivalentTo"} xref: UMLS:C0153107 {source="DOID:11265"} xref: UMLS:C0153108 {source="DOID:11265"} is_a: MONDO:0000315 {source="DOID:11265", source="MONDO:Redundant"} ! commensal bacterial infectious disease -is_a: MONDO:0005701 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata"} ! chlamydia trachomatis infectious disease +is_a: MONDO:0005701 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata", source="linkedlifedata/inferred"} ! chlamydia trachomatis infectious disease relationship: realized_in_response_to_stimulus NCBITaxon:813 ! Chlamydia trachomatis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10374/trachoma xsd:anyURI {source="GARD:0010374"} @@ -16504,7 +16697,7 @@ xref: MESH:C536156 {source="MONDO:ontobio", source="DOID:11267", source="MONDO:e xref: SCTID:193827004 {source="DOID:11267"} xref: SCTID:85149007 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11267", source="MONDO:equivalentTo"} xref: UMLS:C0152455 {source="DOID:11267", source="MONDO:equivalentTo"} -is_a: MONDO:0005328 {source="https://en.wikipedia.org/wiki/Keratomalacia"} ! eye disease +is_a: MONDO:0005328 {source="DOID:11267/inferred", source="https://en.wikipedia.org/wiki/Keratomalacia", source="linkedlifedata/inferred"} ! eye disease relationship: disease_arises_from_feature HP:0004905 {source="MESH:C536156-modified"} ! Vitamin A deficiency relationship: disease_has_basis_in_disruption_of GO:0010669 {source="https://en.wikipedia.org/wiki/Keratomalacia"} ! epithelial structure maintenance relationship: disease_has_feature HP:0007957 {source="https://en.wikipedia.org/wiki/Keratomalacia"} ! Corneal opacity @@ -16516,6 +16709,8 @@ name: chronic apical periodontitis def: "Chronic form of periapical periodontitis." [MONDO:patterns/chronic] synonym: "chronic apical periodontitis (disorder)" EXACT [DOID:11269, SCTID:87782002] synonym: "chronic apical periodontitis NOS (disorder)" EXACT [DOID:11269, SCTID:196345001] +synonym: "chronic periapical periodontitis" EXACT [MONDO:design_pattern] +synonym: "periapical periodontitis, chronic" EXACT [MONDO:design_pattern] xref: COHD:137591 {source="MONDO:equivalentTo"} xref: DOID:11269 {source="MONDO:equivalentTo"} xref: ICD10:K04.5 {source="MONDO:equivalentTo", source="DOID:11269"} @@ -16550,7 +16745,7 @@ xref: SCTID:190250001 {source="DOID:11277"} xref: SCTID:190254005 {source="DOID:11277"} xref: SCTID:57777000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11277", source="MONDO:equivalentTo"} xref: UMLS:C0342127 {source="DOID:11277", source="MONDO:equivalentTo"} -is_a: MONDO:0004425 {source="DOID:11277", source="linkedlifedata"} ! hyperthyroidism +is_a: MONDO:0004425 {source="DOID:11277", source="EFO:0009191", source="NCIT:C35171", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperthyroidism [Term] id: MONDO:0001253 @@ -16627,7 +16822,7 @@ xref: ICD9:362.14 {source="DOID:11295", source="i2s", source="MONDO:equivalentTo xref: SCTID:193363005 {source="DOID:11295"} xref: SCTID:34037000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11295", source="MONDO:equivalentTo"} xref: UMLS:C0154834 {source="DOID:11295", source="MONDO:equivalentTo"} -is_a: MONDO:0002311 {source="DOID:11295", source="linkedlife", source="linkedlifedata"} ! retinal vascular disease +is_a: MONDO:0002311 {source="DOID:11295", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinal vascular disease [Term] id: MONDO:0001258 @@ -16723,8 +16918,8 @@ xref: ICD9:115.10 {source="DOID:11315", source="i2s", source="MONDO:equivalentTo xref: SCTID:78511005 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0153270 {source="DOID:11315"} xref: UMLS:C0220977 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002099 {source="linkedlife"} ! Histoplasma capsulatum infectious disease -is_a: MONDO:0018312 {source="DOID:11315", source="linkedlife", source="linkedlifedata"} ! histoplasmosis +is_a: MONDO:0002099 {source="linkedlifedata"} ! Histoplasma capsulatum infectious disease +is_a: MONDO:0018312 {source="DOID:11315", source="linkedlifedata", source="linkedlifedata/inferred"} ! histoplasmosis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:149546 ! Histoplasma capsulatum var. duboisii @@ -16737,7 +16932,7 @@ xref: ICD9:115.92 {source="DOID:11316", source="i2s", source="MONDO:equivalentTo xref: SCTID:187058000 {source="DOID:11316", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0153278 {source="DOID:11316", source="MONDO:equivalentTo"} is_a: MONDO:0002708 {source="DOID:11316", source="MONDO:Entailed"} ! retinitis -is_a: MONDO:0018312 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-23", source="linkedlife", source="linkedlifedata"} ! histoplasmosis +is_a: MONDO:0018312 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-23", source="linkedlifedata", source="linkedlifedata/inferred"} ! histoplasmosis intersection_of: MONDO:0002708 ! retinitis intersection_of: realized_in_response_to_stimulus NCBITaxon:5037 ! Histoplasma capsulatum @@ -16759,7 +16954,7 @@ xref: MESH:D011618 {source="DOID:11328"} xref: NCIT:C94376 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:11328", source="MONDO:equivalentTo"} xref: SCTID:88975006 {source="DOID:11328", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0036358 {source="DOID:11328", source="NCIT:C94376"} -is_a: MONDO:0005485 {source="MONDO:cjm", source="linkedlifedata"} ! psychotic disorder +is_a: MONDO:0005485 {source="DOID:11328", source="MONDO:cjm", source="linkedlifedata", source="linkedlifedata/inferred"} ! psychotic disorder [Term] id: MONDO:0001266 @@ -16823,7 +17018,7 @@ xref: UMLS:C0266916 {source="DOID:1134", source="MEDGEN:kboom-pr97-c98", source= xref: UMLS:C1456171 {source="DOID:1134"} xref: UMLS:C1456172 {source="DOID:1134"} xref: UMLS:C1456173 {source="DOID:1134"} -is_a: MONDO:0002021 {source="DOID:1134", source="MESH:D005889", source="linkedlifedata"} ! gingival disease +is_a: MONDO:0002021 {source="DOID:1134", source="MESH:D005889", source="linkedlifedata", source="linkedlifedata/inferred"} ! gingival disease [Term] id: MONDO:0001269 @@ -16832,15 +17027,16 @@ def: "A disorder affecting the sclera. Examples include inflammatory processes ( synonym: "disease of sclera" EXACT [MONDO:patterns/location_top] synonym: "disorder of sclera" EXACT [MONDO:patterns/location_top] synonym: "sclera disease" EXACT [MONDO:patterns/location] +synonym: "sclera disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:11343 {source="MONDO:equivalentTo"} xref: ICD10:H15 {source="DOID:11343"} xref: ICD10:H15.9 {source="DOID:11343"} -xref: ICD9:379.19 {source="linkedlife"} +xref: ICD9:379.19 {source="linkedlifedata"} xref: MESH:D015422 {source="MONDO:ontobio", source="DOID:11343", source="MONDO:equivalentTo"} xref: NCIT:C79717 {source="DOID:11343", source="MONDO:equivalentTo"} xref: SCTID:33064008 {source="DOID:11343", source="MONDO:equivalentTo"} xref: UMLS:C0036412 {source="DOID:11343", source="MONDO:equivalentTo"} -is_a: MONDO:0005328 {source="DOID:11343", source="MESH:D015422", source="MONDO:Entailed", source="linkedlife"} ! eye disease +is_a: MONDO:0005328 {source="DOID:11343", source="MESH:D015422", source="MONDO:Entailed", source="NCIT:C79717", source="linkedlifedata"} ! eye disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001773 ! sclera @@ -16874,7 +17070,7 @@ xref: SCTID:155203002 {source="DOID:11364"} xref: SCTID:267748002 {source="DOID:11364"} xref: SCTID:65814009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11364", source="MONDO:equivalentTo"} xref: UMLS:C0023316 {source="NCIT:C34772", source="DOID:11364", source="MONDO:equivalentTo"} -is_a: MONDO:0001176 {source="DOID:11364", source="MESH:D007906", source="NCIT:C34772", source="linkedlife"} ! lens disease +is_a: MONDO:0001176 {source="DOID:11364", source="MESH:D007906", source="NCIT:C34772", source="linkedlifedata"} ! lens disease [Term] id: MONDO:0001272 @@ -16902,7 +17098,7 @@ xref: SCTID:197138002 {source="DOID:11372"} xref: SCTID:197144003 {source="DOID:11372"} xref: SCTID:33995003 {source="MONDO:kboom-pr-1.00/0.79/8.17", source="DOID:11372", source="MONDO:equivalentTo"} xref: UMLS:C0025160 {source="DOID:11372", source="NCIT:C34810"} -is_a: MONDO:0003409 {source="DOID:11372", source="MESH:D008531", source="linkedlifedata"} ! colonic disease +is_a: MONDO:0003409 {source="DOID:11372", source="MESH:D008531", source="linkedlifedata", source="linkedlifedata/inferred"} ! colonic disease [Term] id: MONDO:0001274 @@ -16915,7 +17111,7 @@ xref: SCTID:17440005 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:1137 xref: SCTID:197136003 {source="DOID:11374"} xref: SCTID:197137007 {source="DOID:11374"} xref: UMLS:C0152167 {source="DOID:11374", source="MONDO:equivalentTo"} -is_a: MONDO:0002519 {source="DOID:11374"} ! anus disease +is_a: MONDO:0002519 {source="DOID:11374", source="linkedlifedata"} ! anus disease [Term] id: MONDO:0001275 @@ -16970,8 +17166,8 @@ xref: DOID:11390 {source="MONDO:equivalentTo"} xref: ICD9:437.4 {source="DOID:11390", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:28366008 {source="DOID:11390", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0007773 {source="DOID:11390", source="MONDO:equivalentTo"} -is_a: MONDO:0011057 {source="DOID:11390", source="linkedlife", source="linkedlifedata"} ! cerebrovascular disorder -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0011057 {source="DOID:11390", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebrovascular disorder +is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0004449 ! cerebral artery @@ -17022,8 +17218,8 @@ xref: SCTID:16553002 {source="DOID:11406", source="MONDO:equivalentTo", source=" xref: SCTID:193449000 {source="DOID:11406"} xref: UMLS:C0008526 {source="DOID:11406", source="Orphanet:280892", source="MONDO:equivalentTo"} xref: UMLS:C0042167 {source="ORDO:280892/e", source="Orphanet:280892", source="NCIT:C35111", source="MONDO:equivalentTo"} -is_a: MONDO:0001898 {source="DOID:11406", source="MESH:D002833", source="MONDO:Entailed", source="linkedlife"} ! optic choroid disease -is_a: MONDO:0020283 {source="MESH:D002833/inferred", source="MONDO:Redundant", source="NCIT:C35111", source="Orphanet:280892", source="UBERON:0001776", source="linkedlife", source="linkedlifedata"} ! uveitis (disease) +is_a: MONDO:0001898 {source="DOID:11406", source="MESH:D002833", source="MONDO:Entailed", source="linkedlifedata"} ! optic choroid disease +is_a: MONDO:0020283 {source="MESH:D002833/inferred", source="MONDO:Redundant", source="NCIT:C35111", source="Orphanet:280892", source="UBERON:0001776", source="linkedlifedata", source="linkedlifedata/inferred"} ! uveitis (disease) intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001776 ! optic choroid @@ -17055,8 +17251,8 @@ xref: ICD9:617.2 {source="DOID:11424", source="i2s", source="MONDO:equivalentTo" xref: NCIT:C26763 {source="DOID:11424", source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equivalentTo"} xref: SCTID:22611009 {source="DOID:11424", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0014177 {source="DOID:11424", source="NCIT:C26763", source="MONDO:equivalentTo"} -is_a: MONDO:0002156 {source="DOID:11424", source="MONDO:Entailed", source="NCIT:C26763/inferred", source="linkedlife", source="linkedlifedata"} ! fallopian tube disease -is_a: MONDO:0005133 {source="DOID:11424", source="ICD10:N80.2", source="MONDO:Entailed", source="NCIT:C26763", source="linkedlifedata"} ! endometriosis (disease) +is_a: MONDO:0002156 {source="DOID:11424", source="MONDO:Entailed", source="NCIT:C26763/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! fallopian tube disease +is_a: MONDO:0005133 {source="DOID:11424", source="ICD10:N80.2", source="MONDO:Entailed", source="NCIT:C26763", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease) intersection_of: MONDO:0005133 ! endometriosis (disease) intersection_of: disease_has_location UBERON:0003889 ! fallopian tube @@ -17069,7 +17265,7 @@ xref: DOID:11427 {source="MONDO:equivalentTo"} xref: NCIT:C40121 {source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:11427", source="MONDO:equivalentTo"} xref: SCTID:55850004 {source="DOID:11427", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0269106 {source="DOID:11427", source="NCIT:C40121", source="MONDO:equivalentTo"} -is_a: MONDO:0002263 {source="NCIT:C40121/inferred", source="OWLReasoner:Elk-2018-03-06"} ! female reproductive system disease +is_a: MONDO:0002263 {source="DOID:11427/inferred", source="NCIT:C40121/inferred", source="OWLReasoner:Elk-2018-03-06"} ! female reproductive system disease disjoint_from: MONDO:0005133 {source="PMID:22819185"} ! endometriosis (disease) relationship: disease_has_location UBERON:0000474 ! female reproductive system relationship: disease_shares_features_of MONDO:0005133 ! endometriosis (disease) @@ -17102,7 +17298,7 @@ xref: ICD9:617.3 {source="DOID:11429", source="i2s", source="MONDO:equivalentTo" xref: SCTID:198251001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11429", source="MONDO:equivalentTo"} xref: SCTID:198252008 {source="DOID:11429"} xref: UMLS:C0156345 {source="DOID:11429", source="MONDO:equivalentTo"} -is_a: MONDO:0005133 {source="DOID:11429", source="ICD10:N80.3", source="MONDO:Entailed", source="linkedlifedata"} ! endometriosis (disease) +is_a: MONDO:0005133 {source="DOID:11429", source="ICD10:N80.3", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease) intersection_of: MONDO:0005133 ! endometriosis (disease) intersection_of: disease_has_location UBERON:0002355 ! pelvic region of trunk intersection_of: disease_has_location UBERON:0002358 ! peritoneum @@ -17128,7 +17324,7 @@ xref: SCTID:399054005 {source="DOID:1143"} xref: SCTID:399252000 {source="DOID:1143", source="MONDO:kboom-pr-0.92/0.77/0.82", source="MONDO:equivalentTo"} xref: SCTID:75400001 {source="DOID:1143"} xref: UMLS:C0015310 {source="DOID:1143", source="NCIT:C34601", source="MONDO:equivalentTo"} -is_a: MONDO:0003432 {source="DOID:1143", source="NCIT:C34601", source="linkedlifedata"} ! strabismus +is_a: MONDO:0003432 {source="DOID:1143", source="NCIT:C34601", source="linkedlifedata", source="linkedlifedata/inferred"} ! strabismus [Term] id: MONDO:0001287 @@ -17141,7 +17337,7 @@ xref: ICD10:N80.6 {source="DOID:11430", source="MONDO:equivalentTo"} xref: ICD9:617.6 {source="i2s", source="DOID:11430", source="MONDO:equivalentTo"} xref: SCTID:53913001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11430", source="MONDO:equivalentTo"} xref: UMLS:C0156348 {source="DOID:11430", source="MONDO:equivalentTo"} -is_a: MONDO:0005133 {source="DOID:11430", source="ICD10:N80.6", source="linkedlifedata"} ! endometriosis (disease) +is_a: MONDO:0005133 {source="DOID:11430", source="ICD10:N80.6", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease) [Term] id: MONDO:0001288 @@ -17155,7 +17351,7 @@ xref: NCIT:C128064 {source="MONDO:equivalentTo"} xref: SCTID:198253003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11431", source="MONDO:equivalentTo"} xref: SCTID:198254009 {source="DOID:11431"} xref: UMLS:C0156346 {source="DOID:11431", source="MONDO:equivalentTo"} -is_a: MONDO:0005133 {source="DOID:11431", source="ICD10:N80.4", source="linkedlifedata"} ! endometriosis (disease) +is_a: MONDO:0005133 {source="DOID:11431", source="ICD10:N80.4", source="NCIT:C128064", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease) [Term] id: MONDO:0001289 @@ -17204,6 +17400,7 @@ synonym: "autonomic dysfunction, segmental" RELATED [MESH:D001342] synonym: "autonomic dysfunctions, segmental" RELATED [MESH:D001342] synonym: "autonomic nervous disease" EXACT [DOID:11465] synonym: "autonomic nervous system disease" EXACT [MONDO:patterns/location] +synonym: "autonomic nervous system disease or disorder" EXACT [MONDO:design_pattern] synonym: "autonomic nervous system disorder" EXACT [DOID:11465] synonym: "autonomic nervous system disorders" RELATED [MESH:D001342] synonym: "autonomic peripheral nervous system diseases" NARROW [MESH:D001342] @@ -17225,7 +17422,7 @@ xref: MESH:D001342 {source="MONDO:equivalentTo"} xref: SCTID:15241006 {source="MONDO:kboom-pr-0.73/0.37/0.47", source="MONDO:equivalentTo"} xref: UMLS:C0154691 {source="DOID:11465"} is_a: MONDO:0003620 {source="DOID:11465", source="MONDO:Entailed", source="MONDOLEX:0001292"} ! peripheral nervous system disease -is_a: MONDO:0005071 {source="MESH:D001342", source="MONDO:Redundant", source="linkedlifedata"} ! nervous system disorder +is_a: MONDO:0005071 {source="DOID:11465/inferred", source="MESH:D001342", source="MONDO:Redundant", source="linkedlifedata"} ! nervous system disorder intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002410 ! autonomic nervous system relationship: disease_has_major_feature HP:0002459 ! Dysautonomia @@ -17271,7 +17468,7 @@ synonym: "Bernard-Horner syndrome" RELATED [GARD:0006670] synonym: "cervical sympathetic paralysis" EXACT [DOID:11486, SCTID:12731000] synonym: "Horner syndrome" EXACT [DOID:11486] synonym: "Horner's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -synonym: "Oculosympathetic palsy" RELATED [GARD:0006670] +synonym: "oculosympathetic palsy" RELATED [GARD:0006670] xref: DOID:11486 {source="MONDO:equivalentTo"} xref: GARD:0006670 {source="MONDO:equivalentTo"} xref: ICD10:G90.2 {source="DOID:11486"} @@ -17284,8 +17481,8 @@ xref: SCTID:192915005 {source="MONDO:kboom-pr-0.92/0.83/0.21", source="DOID:1148 xref: SCTID:192922002 {source="DOID:11486"} xref: SCTID:271730003 {source="DOID:11486"} xref: UMLS:C0019937 {source="NCIT:C28155", source="DOID:11486"} -is_a: MONDO:0001300 {source="DOID:11486", source="linkedlifedata"} ! autonomic neuropathy -is_a: MONDO:0005244 {source="MONDO:Redundant", source="NCIT:C28155", source="linkedlifedata"} ! peripheral neuropathy +is_a: MONDO:0001300 {source="DOID:11486", source="linkedlifedata", source="linkedlifedata/inferred"} ! autonomic neuropathy +is_a: MONDO:0005244 {source="MONDO:Redundant", source="NCIT:C28155", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6670/horners-syndrome xsd:anyURI {source="GARD:0006670"} [Term] @@ -17303,7 +17500,7 @@ xref: SCTID:192914009 {source="DOID:11488"} xref: SCTID:192916006 {source="DOID:11488"} xref: SCTID:86489003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11488", source="MONDO:equivalentTo"} xref: UMLS:C0154690 {source="DOID:11488", source="MONDO:equivalentTo"} -is_a: MONDO:0001292 {source="DOID:11488", source="linkedlifedata"} ! autonomic nervous system disease +is_a: MONDO:0001292 {source="DOID:11488", source="linkedlifedata", source="linkedlifedata/inferred"} ! autonomic nervous system disease [Term] id: MONDO:0001296 @@ -17371,8 +17568,8 @@ xref: SCTID:48724000 {source="DOID:11502"} xref: UMLS:C0026266 {source="DOID:11502", source="NCIT:C50888"} xref: UMLS:C0158619 {source="DOID:11502", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} xref: UMLS:C0264774 {source="DOID:11502"} -is_a: MONDO:0002869 {source="MESH:D008944", source="NCIT:C50888/inferred", source="linkedlife/inferred"} ! heart valve disease -is_a: MONDO:0003767 {source="DOID:11502", source="NCIT:C50888"} ! mitral valve disease +is_a: MONDO:0002869 {source="DOID:11502/inferred", source="MESH:D008944", source="NCIT:C50888/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! heart valve disease +is_a: MONDO:0003767 {source="DOID:11502", source="NCIT:C50888", source="linkedlifedata/inferred"} ! mitral valve disease [Term] id: MONDO:0001299 @@ -17396,6 +17593,7 @@ name: autonomic neuropathy def: "An inherited or acquired peripheral neuropathy affecting the autonomic nervous system. It results in disruption of the involuntary body functions. Inherited causes include Fabry disease and porphyrias. Acquired causes include diabetes, uremia, hepatic disorders, vitamin deficiencies, toxins, and drug toxicities." [NCIT:C27033] synonym: "autonomic nervous system peripheral neuropathy" EXACT [MONDO:patterns/location] synonym: "autonomic peripheral neuropathy" EXACT [MONDO:0000604] +synonym: "peripheral neuropathy of autonomic nervous system" EXACT [MONDO:design_pattern] xref: CSP:2042-2001 {source="DOID:11504"} xref: CSP:2049-9000 {source="DOID:11504"} xref: DOID:0060054 {source="MONDO:equivalentTo"} @@ -17404,7 +17602,7 @@ xref: NCIT:C27033 {source="DOID:11504", source="MONDO:kboom-pr-1.00/0.87/15.87", xref: SCTID:277879009 {source="DOID:11504", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0259749 {source="DOID:11504", source="NCIT:C27033", source="MONDO:equivalentTo"} is_a: MONDO:0001292 {source="DOID:11504", source="MONDO:Redundant"} ! autonomic nervous system disease -is_a: MONDO:0005244 {source="MONDO:Redundant", source="MONDOLEX:0001300", source="NCIT:C27033", source="linkedlifedata"} ! peripheral neuropathy +is_a: MONDO:0005244 {source="DOID:0060054", source="MONDO:Redundant", source="MONDOLEX:0001300", source="NCIT:C27033", source="linkedlifedata"} ! peripheral neuropathy intersection_of: MONDO:0005244 ! peripheral neuropathy intersection_of: disease_has_location UBERON:0002410 ! autonomic nervous system @@ -17448,7 +17646,7 @@ xref: SCTID:194769003 {source="DOID:11516"} xref: SCTID:194772005 {source="DOID:11516"} xref: SCTID:64715009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11516", source="MONDO:equivalentTo"} xref: UMLS:C0152105 {source="DOID:11516", source="MONDO:equivalentTo"} -is_a: MONDO:0005267 {source="DOID:11516", source="linkedlifedata"} ! heart disease +is_a: MONDO:0005267 {source="DOID:11516", source="NCIT:C4907/inferred", source="linkedlifedata"} ! heart disease intersection_of: MONDO:0005267 ! heart disease intersection_of: disease_arises_from_feature MONDO:0005044 ! hypertensive disorder @@ -17478,7 +17676,7 @@ xref: ICD9:403.1 {source="DOID:11520"} xref: ICD9:403.10 {source="i2s", source="DOID:11520", source="MONDO:equivalentTo"} xref: SCTID:193003 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:11520", source="MONDO:equivalentTo"} xref: UMLS:C0155596 {source="DOID:11520", source="MONDO:equivalentTo"} -is_a: MONDO:0024633 {source="linkedlife"} ! hypertensive renal disease +is_a: MONDO:0024633 {source="linkedlifedata"} ! hypertensive renal disease relationship: excluded_subClassOf MONDO:0001105 {source="DOID:11520"} ! renal hypertension [Term] @@ -17496,7 +17694,7 @@ xref: NCIT:C79608 {source="MONDO:otherHierarchy", source="DOID:11527"} xref: SCTID:195864007 {source="DOID:11527"} xref: SCTID:75547007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11527", source="MONDO:equivalentTo"} xref: UMLS:C0023075 {source="DOID:11527", source="MONDO:equivalentTo"} -is_a: MONDO:0004382 {source="DOID:11527", source="MESH:D007829"} ! laryngeal disease +is_a: MONDO:0004382 {source="DOID:11527", source="MESH:D007829", source="linkedlifedata", source="linkedlifedata/inferred"} ! laryngeal disease [Term] id: MONDO:0001306 @@ -17527,7 +17725,7 @@ xref: NCIT:C26969 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:11543", xref: SCTID:64366002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:11543", source="MONDO:equivalentTo"} xref: UMLS:C0155091 {source="NCIT:C26969", source="DOID:11543", source="MONDO:equivalentTo"} is_a: MONDO:0004903 {source="DOID:11543"} ! deep keratitis -is_a: MONDO:0005227 {source="NCIT:C26969", source="linkedlifedata"} ! abscess +is_a: MONDO:0005227 {source="NCIT:C26969", source="linkedlifedata", source="linkedlifedata/inferred"} ! abscess [Term] id: MONDO:0001308 @@ -17543,13 +17741,14 @@ xref: SCTID:193803001 {source="DOID:11547"} xref: SCTID:193804007 {source="DOID:11547"} xref: SCTID:74460005 {source="DOID:11547", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0162281 {source="DOID:11547", source="MONDO:equivalentTo"} -is_a: MONDO:0000942 {source="DOID:11547", source="linkedlife", source="linkedlife/inferred"} ! corneal disease +is_a: MONDO:0000942 {source="DOID:11547", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal disease [Term] id: MONDO:0001309 name: oculomotor nerve paralysis def: "Paralysis of the oculomotor nerve." [NCIT:C27597] subset: ordo_group_of_disorders {source="Orphanet:98685"} +synonym: "cranial nerve palsy of oculomotor nerve" EXACT [MONDO:design_pattern] synonym: "III nerve palsy" EXACT [DOID:11550, SCTID:12900003, SCTID:388980004] synonym: "IIIrd nerve paralysis" EXACT [DOID:11550, NCIT:C27597] synonym: "oculomotor nerve cranial nerve palsy" EXACT [MONDO:patterns/location] @@ -17583,7 +17782,7 @@ xref: ICD9:371.31 {source="i2s", source="DOID:11552", source="MONDO:equivalentTo xref: SCTID:193820002 {source="DOID:11552"} xref: SCTID:45382000 {source="DOID:11552", source="MONDO:equivalentTo"} xref: UMLS:C0155115 {source="DOID:11552", source="MONDO:equivalentTo"} -is_a: MONDO:0000942 {source="DOID:11552", source="linkedlife"} ! corneal disease +is_a: MONDO:0000942 {source="DOID:11552", source="linkedlifedata"} ! corneal disease relationship: disease_has_location UBERON:0004370 ! anterior limiting lamina of cornea [Term] @@ -17617,8 +17816,8 @@ xref: ICD9:381.04 {source="DOID:11558", source="i2s", source="MONDO:equivalentTo xref: SCTID:194241005 {source="DOID:11558"} xref: SCTID:59275002 {source="DOID:11558", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155418 {source="DOID:11558", source="MONDO:equivalentTo"} -is_a: MONDO:0001312 {source="DOID:11558", source="SCTID:59275002", source="linkedlifedata"} ! acute serous otitis media -is_a: MONDO:0021202 {source="SCTID:59275002", source="linkedlifedata"} ! allergic otitis media +is_a: MONDO:0001312 {source="DOID:11558", source="linkedlifedata"} ! acute serous otitis media +is_a: MONDO:0021202 {source="linkedlifedata"} ! allergic otitis media [Term] id: MONDO:0001314 @@ -17672,7 +17871,7 @@ xref: SCTID:192434000 {source="DOID:11569"} xref: SCTID:46219009 {source="DOID:11569"} xref: SCTID:72994002 {source="DOID:11569"} xref: UMLS:C0027821 {source="DOID:11569"} -is_a: MONDO:0003117 {source="DOID:11569", source="linkedlifedata"} ! somatoform disorder +is_a: MONDO:0003117 {source="DOID:11569", source="linkedlifedata", source="linkedlifedata/inferred"} ! somatoform disorder is_a: MONDO:0005618 {source="MESH:D009449"} ! anxiety disorder [Term] @@ -17706,10 +17905,21 @@ is_a: MONDO:0004768 {source="DOID:11581", source="MONDOLEX:0001317", source="lin [Term] id: MONDO:0001318 name: functional gastric disease +synonym: "disorder of function of stomach" EXACT [] +synonym: "disorder of gastric function" RELATED [] +synonym: "disorder of stomach function" RELATED [] +synonym: "functional gastric disorder" RELATED [] +synonym: "functional gastric disturbance" RELATED [] xref: DOID:1159 {source="MONDO:equivalentTo"} -xref: ICD9:536.8 {source="DOID:1159"} +xref: ICD9:306.4 {source="linkedlifedata"} +xref: ICD9:536.8 {source="linkedlifedata", source="DOID:1159"} +xref: ICD9:536.9 {source="linkedlifedata"} +xref: SCTID:150541000119104 {source="MONDO:equivalentTo"} +xref: SCTID:386211005 {source="MONDO:equivalentTo"} xref: UMLS:C0013396 {source="DOID:1159"} -is_a: MONDO:0004298 {source="DOID:1159"} ! stomach disease +is_a: MONDO:0000001 {source="DOID:1159/inferred"} ! disease or disorder +is_a: MONDO:0004298 {source="DOID:1159", source="linkedlifedata"} ! stomach disease +relationship: disease_has_location UBERON:0000945 ! stomach [Term] id: MONDO:0001319 @@ -17736,7 +17946,7 @@ xref: ICD10:H15.85 {source="DOID:11594"} xref: ICD9:379.15 {source="DOID:11594", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:5299007 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11594", source="MONDO:equivalentTo"} xref: UMLS:C0155363 {source="DOID:11594", source="MONDO:equivalentTo"} -is_a: MONDO:0001321 {source="DOID:11594", source="linkedlifedata"} ! scleral staphyloma (disease) +is_a: MONDO:0001321 {source="DOID:11594", source="linkedlifedata", source="linkedlifedata/inferred"} ! scleral staphyloma (disease) [Term] id: MONDO:0001321 @@ -17751,7 +17961,7 @@ xref: ICD10:H15.84 {source="DOID:11595"} xref: ICD9:379.11 {source="i2s", source="DOID:11595", source="MONDO:equivalentTo"} xref: SCTID:111534007 {source="MONDO:kboom-pr-1.00/0.81/10.38", source="DOID:11595", source="MONDO:equivalentTo"} xref: UMLS:C0155359 {source="DOID:11595", source="MONDO:equivalentTo"} -is_a: MONDO:0001269 {source="DOID:11595"} ! scleral disease +is_a: MONDO:0001269 {source="DOID:11595", source="linkedlifedata"} ! scleral disease [Term] id: MONDO:0001322 @@ -17811,7 +18021,7 @@ xref: EFO:0009006 {source="MONDO:equivalentTo"} xref: MESH:D017588 {source="DOID:11613", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:237793004 {source="DOID:11613", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0206081 {source="DOID:11613", source="MONDO:equivalentTo"} -is_a: MONDO:0002145 {source="DOID:11613"} ! sex differentiation disease +is_a: MONDO:0002145 {source="DOID:11613", source="MESH:D017588/inferred"} ! sex differentiation disease is_a: MONDO:0015898 {source="MESH:D017588"} ! adrenogenital syndrome intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_major_feature HP:0030348 ! Increased circulating androgen level @@ -17897,9 +18107,10 @@ is_a: MONDO:0001592 {source="DOID:11629", source="ICD10:N81.84", source="ICD10:N [Term] id: MONDO:0001328 name: thyroid hormone resistance syndrome -def: "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormoneS and the resulting elevation in serum levels of thyroxine and triiodothyronine. This syndrome is caused by mutations of gene THRB encoding the thyroid hormone receptors beta in target cells. hypothyroidism in these patients is partly overcome by the increased thyroid hormone levels." [MESH:D018382] +def: "An inherited autosomal recessive trait, characterized by peripheral resistance to thyroid hormones and the resulting elevation in serum levels of thyroxine and triiodothyronine." [MESH:D018382-modified] synonym: "generalized thyroid hormone resistance" EXACT [DOID:11633] synonym: "generalized thyroid hormone resistance (disorder)" NARROW [DOID:11633, SCTID:237560005] +synonym: "Refetoff syndrome" EXACT [DOID:11633] synonym: "Refetoff syndrome (disorder)" NARROW [DOID:11633, SCTID:111567006] synonym: "resistance to thyroid stimulating hormone" RELATED [] synonym: "resistance to thyrotropin" RELATED [] @@ -17921,11 +18132,12 @@ xref: SCTID:237559000 {source="DOID:11633"} xref: SCTID:237560005 {source="DOID:11633"} xref: SCTID:50375007 {source="DOID:11633"} xref: UMLS:C2940786 {source="DOID:11633"} -is_a: MONDO:0005420 {source="DOID:11633"} ! hypothyroidism +is_a: MONDO:0045046 {source="linkedlifedata"} ! inherited thyroid metabolism disease relationship: disease_has_basis_in_disruption_of GO:0004887 ! thyroid hormone receptor activity relationship: disease_has_feature MONDO:0005333 {source="MESH:D018382"} ! hyperthyroxinemia relationship: disease_has_location UBERON:0002046 ! thyroid gland relationship: disease_has_major_feature HP:0031097 ! Abnormal thyroid-stimulating hormone level +relationship: excluded_subClassOf MONDO:0005420 {source="DOID:11633"} ! hypothyroidism [Term] id: MONDO:0001329 @@ -17936,7 +18148,7 @@ xref: ICD10:H52.53 {source="DOID:11637"} xref: ICD9:367.53 {source="DOID:11637", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:30069002 {source="DOID:11637", source="MONDO:kboom-pr-1.00/0.80/9.13", source="MONDO:equivalentTo"} xref: UMLS:C0152196 {source="DOID:11637", source="MONDO:equivalentTo"} -is_a: MONDO:0000926 {source="DOID:11637", source="linkedlifedata"} ! eye accommodation disease +is_a: MONDO:0000926 {source="DOID:11637", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye accommodation disease [Term] id: MONDO:0001330 @@ -17961,7 +18173,7 @@ xref: ICD10:H11.11 {source="DOID:11653"} xref: ICD9:372.56 {source="i2s", source="MONDO:equivalentTo", source="DOID:11653"} xref: SCTID:62660000 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo", source="DOID:11653"} xref: UMLS:C0162280 {source="MONDO:equivalentTo", source="DOID:11653"} -is_a: MONDO:0002932 {source="DOID:11653"} ! conjunctival disease +is_a: MONDO:0002932 {source="DOID:11653", source="linkedlifedata"} ! conjunctival disease [Term] id: MONDO:0001332 @@ -17990,8 +18202,8 @@ xref: SCTID:50442003 {source="MONDO:kboom-pr-1.00/0.80/9.85", source="DOID:1166" xref: UMLS:C0085574 {source="DOID:1166", source="MONDO:equivalentTo"} xref: UMLS:C0158178 {source="DOID:1166"} is_a: MONDO:0002254 {source="DOID:1166", source="MONDOLEX:0001332"} ! syndromic disease -is_a: MONDO:0003366 {source="linkedlife"} ! hydrarthrosis -is_a: MONDO:0005554 {source="MONDOLEX:0001332", source="linkedlife"} ! rheumatologic disorder +is_a: MONDO:0003366 {source="linkedlifedata"} ! hydrarthrosis +is_a: MONDO:0005554 {source="MESH:C538103/inferred", source="MONDOLEX:0001332", source="linkedlifedata"} ! rheumatologic disorder relationship: disease_has_feature HP:0001369 ! Arthritis [Term] @@ -18019,7 +18231,7 @@ xref: SCTID:268357008 {source="DOID:11665"} xref: UMLS:C0152095 {source="NCIT:C101223", source="MEDGEN:kboom-pr98-c99", source="DOID:11665", source="MONDO:equivalentTo"} xref: UMLS:CN204386 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0001333", source="NCIT:C101223"} ! syndromic disease -is_a: MONDO:0019040 {source="DOID:11665", source="MESH:C536305", source="linkedlife/inferred"} ! chromosomal anomaly +is_a: MONDO:0019040 {source="DOID:11665", source="MESH:C536305", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! chromosomal anomaly [Term] id: MONDO:0001334 @@ -18112,6 +18324,7 @@ id: MONDO:0001339 name: portal vein thrombosis def: "The formation of a blood clot (thrombus) in the portal vein." [NCIT:P378] synonym: "portal vein thrombotic disease" EXACT [MONDO:patterns/location] +synonym: "thrombotic disease of portal vein" EXACT [MONDO:design_pattern] xref: COHD:199837 {source="MONDO:equivalentTo"} xref: DOID:11695 {source="MONDO:equivalentTo"} xref: ICD10:I81 {source="DOID:11695", source="MONDO:equivalentTo"} @@ -18120,9 +18333,9 @@ xref: NCIT:C78565 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:11695", xref: SCTID:155455003 {source="DOID:11695"} xref: SCTID:17920008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11695", source="MONDO:equivalentTo"} xref: UMLS:C0155773 {source="NCIT:C78565", source="MEDGEN:kboom-pr98-c99", source="DOID:11695", source="MONDO:equivalentTo"} -is_a: MONDO:0000831 {source="DOID:11695", source="MONDO:Entailed", source="NCIT:C78565/inferred", source="linkedlifedata"} ! thrombotic disease +is_a: MONDO:0000831 {source="DOID:11695", source="MONDO:Entailed", source="NCIT:C78565/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! thrombotic disease is_a: MONDO:0002405 {source="DOID:11695", source="linkedlifedata"} ! hepatic vascular disease -is_a: MONDO:0004634 {source="DOID:11695", source="MONDO:Entailed", source="linkedlifedata"} ! vein disease +is_a: MONDO:0004634 {source="DOID:11695", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! vein disease intersection_of: MONDO:0000831 ! thrombotic disease intersection_of: disease_has_location UBERON:0002017 ! portal vein @@ -18193,7 +18406,7 @@ xref: SCTID:29260007 {source="DOID:11701", source="DOID:0060025", source="MONDO: xref: UMLS:C0162538 {source="MEDGEN:kboom-pr96-c98", source="DOID:11701", source="DOID:0060025", source="MONDO:equivalentTo"} xref: UMLS:C4049006 {source="MONDO:equivalentTo", source="NCIT:C26964", source="MEDGEN:kboom-pr95-c98"} is_a: MONDO:0001342 {source="DOID:11701", source="MESH:D017098"} ! dysgammaglobulinemia (disease) -is_a: MONDO:0003739 {source="NCIT:C26964"} ! selective immunoglobulin deficiency disease +is_a: MONDO:0003739 {source="DOID:11701/inferred", source="NCIT:C26964"} ! selective immunoglobulin deficiency disease relationship: excluded_subClassOf MONDO:0002211 {source="DOID:0060025"} ! B cell deficiency [Term] @@ -18276,7 +18489,7 @@ xref: SCTID:399091004 {source="DOID:11727"} xref: SCTID:56096001 {source="DOID:11727"} xref: UMLS:C0238288 {source="DOID:11727", source="ORDO:269/e", source="NCIT:C84704", source="Orphanet:269"} is_a: MONDO:0016106 {source="Orphanet:269"} ! progressive muscular dystrophy -is_a: MONDO:0020121 {source="DOID:11727", source="MESH:D020391", source="NCIT:C84704"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:11727", source="MESH:D020391", source="NCIT:C84704", source="Orphanet:269/inferred"} ! muscular dystrophy [Term] id: MONDO:0001348 @@ -18363,10 +18576,10 @@ synonym: "infection caused by Bordetella parapertussis" RELATED [] synonym: "infection due to Bordetella parapertussis" EXACT [] xref: DOID:11750 {source="MONDO:equivalentTo"} xref: ICD10:A37.1 {source="DOID:11750", source="MONDO:equivalentTo"} -xref: ICD9:033.1 {source="linkedlife", source="DOID:11750"} +xref: ICD9:033.1 {source="linkedlifedata", source="DOID:11750"} xref: SCTID:77116006 {source="DOID:11750", source="MONDO:equivalentTo"} xref: UMLS:C0275742 {source="DOID:11750", source="MONDO:equivalentTo"} -is_a: MONDO:0037872 {source="linkedlife"} ! bordetellosis +is_a: MONDO:0037872 {source="linkedlifedata"} ! bordetellosis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:519 ! Bordetella parapertussis disjoint_from: MONDO:0005077 ! pertussis @@ -18384,6 +18597,7 @@ id: MONDO:0001355 name: ocular siderosis def: "A hemosiderosis that involves the camera-type eye." [MONDO:patterns/location] synonym: "camera-type eye hemosiderosis" EXACT [MONDO:patterns/location] +synonym: "hemosiderosis of camera-type eye" EXACT [MONDO:design_pattern] synonym: "siderosis bulbi" EXACT [MONDO:cjm] synonym: "siderosis of eye" EXACT [DOID:11754] synonym: "siderosis of globe" EXACT [DOID:11754, ICD9CM_2006:360.23] @@ -18392,7 +18606,7 @@ xref: ICD10:H44.32 {source="DOID:11754"} xref: ICD9:360.23 {source="DOID:11754", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:25277000 {source="DOID:11754", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0271001 {source="DOID:11754", source="MONDO:equivalentTo"} -is_a: MONDO:0005328 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! eye disease +is_a: MONDO:0005328 {source="DOID:11754/inferred", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease intersection_of: MONDO:0001436 ! hemosiderosis intersection_of: disease_has_location UBERON:0000019 ! camera-type eye @@ -18415,7 +18629,7 @@ xref: UMLS:C0029810 {source="DOID:11758"} xref: UMLS:C0162316 {source="NCIT:C84484", source="MONDO:equivalentTo"} is_a: MONDO:0001245 {source="DOID:11758"} ! microcytic anemia is_a: MONDO:0001357 {source="NCIT:C84484"} ! hypochromic anemia (disease) -is_a: MONDO:0006873 {source="DOID:11758"} ! nutritional deficiency disease +is_a: MONDO:0006873 {source="DOID:11758", source="linkedlifedata"} ! nutritional deficiency disease intersection_of: MONDO:0002280 ! anemia (disease) intersection_of: disease_disrupts GO:0006879 ! cellular iron ion homeostasis @@ -18442,50 +18656,28 @@ def: "A disease involving the bronchus." [MONDO:patterns/location_top] synonym: "bronchial disorder" RELATED [] synonym: "bronchospasm" EXACT [DOID:1176, NCIT:C34439, SCTID:140179000, SCTID:196175000, SCTID:269012003] synonym: "bronchus disease" EXACT [MONDO:patterns/location] +synonym: "bronchus disease or disorder" EXACT [MONDO:design_pattern] synonym: "disease of bronchus" EXACT [MONDO:patterns/location_top] synonym: "disorder of bronchus" EXACT [MONDO:patterns/location_top] xref: COHD:256717 {source="MONDO:equivalentTo"} xref: DOID:1176 {source="MONDO:equivalentTo"} xref: EFO:1002018 {source="MONDO:equivalentTo"} -xref: ICD9:519.19 {source="linkedlife"} +xref: ICD9:519.19 {source="linkedlifedata"} xref: MESH:D001982 {source="DOID:1176", source="MONDO:equivalentTo"} xref: NCIT:C34439 {source="MONDO:equivalentTo"} xref: SCTID:41427001 {source="DOID:1176", source="MONDO:equivalentTo"} xref: UMLS:C0006261 {source="DOID:1176", source="MONDO:equivalentTo"} -is_a: MONDO:0000270 {source="DOID:1176", source="MONDO:Entailed"} ! lower respiratory tract disease -is_a: MONDO:0000651 {source="linkedlife"} ! thoracic disease -is_a: MONDO:0005087 {source="EFO:1002018", source="linkedlife"} ! respiratory system disease +is_a: MONDO:0000270 {source="DOID:1176", source="MONDO:Entailed", source="linkedlifedata/inferred"} ! lower respiratory tract disease +is_a: MONDO:0000651 {source="NCIT:C34439/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic disease +is_a: MONDO:0005087 {source="DOID:1176/inferred", source="EFO:1002018", source="MESH:D001982", source="NCIT:C34439/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002185 ! bronchus [Term] id: MONDO:0001359 -name: Kohler disease -def: "Kohler disease is a condition that affects a bone at the arch of the foot called the tarsal navicular bone. X-rays show that this bone is initially compressed and later breaks into pieces before healing and hardening back into bone.It occurs most frequently in children between the ages of 5 and 10 years. Signs and symptoms of the condition include swelling, redness and/or tenderness of the affected foot which can lead to a limp or abnormal gait (style of walking). Although the exact underlying cause of Kohler disease is unknown, some scientists suspect that it may be caused by excessive strain on the tarsal navicular bone and its associated blood vessels before the bone is completely ossified (hardened). The condition typically resolves on its own with or without treatment; however, pain relievers, rest, avoidance of weight-bearing activities, and/or casting may be recommended to help manage symptoms." [GARD:0006842] -comment: Editor note: merge into MONDO:0016086 -subset: gard_rare -synonym: "aseptic necrosis of the tarsal bone" RELATED [GARD:0006842] -synonym: "juvenile osteochondrosis of foot" EXACT [DOID:11760, ICD9CM_2006:732.5] -synonym: "Kohler disease" EXACT [DOID:11760] -synonym: "Kohler's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, GARD:0006842, MONDO:LexicalVariant] -synonym: "Kohler's disease of the tarsal navicular" RELATED [GARD:0006842] -synonym: "Kohler's Osteochondrosis of the tarsal navicular" RELATED [GARD:0006842] -synonym: "navicular Osteochondrosis" RELATED [GARD:0006842] -synonym: "osteochondritis of tarsal/metatarsal bone" RELATED [GARD:0006842] -synonym: "Osteochondrosis of the tarsal bone" RELATED [GARD:0006842] -xref: COHD:435903 {source="MONDO:equivalentTo"} -xref: DOID:11760 {source="MONDO:equivalentTo"} -xref: GARD:0006842 {source="MONDO:equivalentTo"} -xref: ICD9:732.5 {source="DOID:11760", source="i2s", source="MONDO:equivalentTo"} -xref: Orphanet:2054 {source="GARD:0006842", source="MONDO:directSiblingOf"} -xref: SCTID:203392007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11760", source="MONDO:equivalentTo"} -xref: SCTID:203393002 {source="DOID:11760"} -xref: SCTID:203397001 {source="DOID:11760"} -xref: SCTID:32491009 {source="DOID:11760"} -xref: UMLS:C0158444 {source="DOID:11760", source="MONDO:equivalentTo"} -is_a: MONDO:0018381 {source="DOID:11760"} ! osteochondrosis -relationship: disease_has_feature HP:0010885 ! Aseptic necrosis -property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6842/kohler-disease xsd:anyURI {source="GARD:0006842"} +name: obsolete Kohler disease +is_obsolete: true +replaced_by: MONDO:0016086 [Term] id: MONDO:0001360 @@ -18519,16 +18711,19 @@ is_a: MONDO:0004843 {source="DOID:11771"} ! pathologic nystagmus [Term] id: MONDO:0001362 -name: leukocoria -synonym: "Leucocoria" EXACT [DOID:11772, ICD9CM_2006:360.44] -xref: COHD:373461 {source="MONDO:equivalentTo"} -xref: DOID:11772 {source="MONDO:equivalentTo"} +name: obsolete leukocoria +def: "an abnormal white reflection from the retina of the eye." [https://en.wikipedia.org/wiki/Leukocoria] +comment: Obsoleted as it represents a feature/finding +xref: COHD:373461 {source="MONDO:obsoleteEquivalent"} +xref: DOID:11772 {source="MONDO:obsoleteEquivalent"} xref: ICD10:H44.53 {source="DOID:11772"} -xref: ICD9:360.44 {source="i2s", source="DOID:11772", source="MONDO:equivalentTo"} -xref: SCTID:1361009 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11772", source="MONDO:equivalentTo"} +xref: ICD9:360.44 {source="MONDO:obsoleteEquivalent", source="i2s", source="DOID:11772"} +xref: SCTID:1361009 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:obsoleteEquivalent", source="DOID:11772"} xref: SCTID:193288000 {source="DOID:11772"} -xref: UMLS:C0152458 {source="DOID:11772", source="MONDO:equivalentTo"} -is_a: MONDO:0004884 {source="DOID:11772"} ! eye degenerative disease +xref: UMLS:C0152458 {source="MONDO:obsoleteEquivalent", source="DOID:11772"} +relationship: excluded_subClassOf MONDO:0004884 {source="DOID:11772"} ! eye degenerative disease +is_obsolete: true +replaced_by: HP:0000555 [Term] id: MONDO:0001363 @@ -18539,7 +18734,7 @@ xref: ICD9:360.42 {source="DOID:11776", source="i2s", source="MONDO:equivalentTo xref: SCTID:193286001 {source="DOID:11776"} xref: SCTID:264008 {source="DOID:11776", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0154789 {source="DOID:11776", source="MONDO:equivalentTo"} -is_a: MONDO:0004884 {source="DOID:11776", source="linkedlife/inferred"} ! eye degenerative disease +is_a: MONDO:0004884 {source="DOID:11776", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! eye degenerative disease [Term] id: MONDO:0001364 @@ -18577,13 +18772,14 @@ id: MONDO:0001367 name: chronic congestive splenomegaly def: "Chronic form of congestive splenomegaly." [MONDO:patterns/chronic] synonym: "chronic congestive splenomegaly (disorder)" EXACT [DOID:11787, SCTID:191382009] +synonym: "congestive splenomegaly, chronic" EXACT [MONDO:design_pattern] xref: COHD:196951 {source="MONDO:equivalentTo"} xref: DOID:11787 {source="MONDO:equivalentTo"} xref: ICD10:D73.2 {source="DOID:11787", source="MONDO:equivalentTo"} xref: ICD9:289.51 {source="DOID:11787", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:191382009 {source="DOID:11787", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0398661 {source="DOID:11787", source="MONDO:equivalentTo"} -is_a: MONDO:0002332 {source="DOID:11787", source="ICD10:D73.2"} ! splenic disease +is_a: MONDO:0002332 {source="DOID:11787", source="ICD10:D73.2", source="linkedlifedata/inferred"} ! splenic disease intersection_of: MONDO:0037251 ! congestive splenomegaly intersection_of: has_modifier PATO:0001863 ! chronic @@ -18629,7 +18825,7 @@ xref: NCIT:C3319 {source="MONDO:kboom-pr-1.00/0.91/26.29", source="MONDO:otherHi xref: SCTID:373945007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:118", source="MONDO:equivalentTo"} xref: SCTID:70370001 {source="DOID:118"} xref: UMLS:C0031039 {source="DOID:118", source="MONDO:equivalentTo"} -is_a: MONDO:0000474 {source="DOID:118", source="linkedlife"} ! pericardium disease +is_a: MONDO:0000474 {source="DOID:118", source="linkedlifedata"} ! pericardium disease [Term] id: MONDO:0001371 @@ -18648,7 +18844,7 @@ xref: SCTID:238107002 {source="DOID:11801", source="MONDO:kboom-pr-1.00/0.81/10. xref: SCTID:267411007 {source="DOID:11801"} xref: SCTID:72608005 {source="DOID:11801"} xref: UMLS:C0033677 {source="DOID:11801", source="NCIT:C34952"} -is_a: MONDO:0006873 {source="DOID:11801", source="MESH:D011502/inferred", source="linkedlifedata"} ! nutritional deficiency disease +is_a: MONDO:0006873 {source="DOID:11801", source="MESH:D011502/inferred", source="NCIT:C34952", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease [Term] id: MONDO:0001372 @@ -18700,7 +18896,7 @@ xref: NCIT:C4669 {source="DOID:11812", source="exact-label-match", source="MONDO xref: SCTID:278046008 {source="DOID:11812", source="MONDO:kboom-pr-0.97/0.92/0.83", source="MONDO:equivalentTo"} xref: UMLS:C0349666 {source="NCIT:C4669", source="DOID:11812", source="MONDO:equivalentTo"} is_a: MONDO:0001187 {source="DOID:11812", source="MONDO:Entailed", source="NCIT:C4669", source="linkedlifedata"} ! urinary bladder cancer -is_a: MONDO:0005089 {source="DOID:11812", source="MONDO:Redundant", source="NCIT:C4669/inferred", source="linkedlifedata"} ! sarcoma +is_a: MONDO:0005089 {source="DOID:11812", source="MONDO:Redundant", source="NCIT:C4669/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! sarcoma is_a: MONDO:0018078 {source="NCIT:C4669"} ! soft tissue sarcoma intersection_of: MONDO:0005089 ! sarcoma intersection_of: disease_has_location UBERON:0001255 ! urinary bladder @@ -18751,7 +18947,7 @@ xref: SCTID:247090008 {source="DOID:11816"} xref: SCTID:60189009 {source="DOID:11816", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155366 {source="DOID:11816", source="MONDO:equivalentTo"} is_a: MONDO:0004860 {source="DOID:11816"} ! vitreous disease -is_a: MONDO:0004884 {source="DOID:11816", source="linkedlife"} ! eye degenerative disease +is_a: MONDO:0004884 {source="DOID:11816", source="linkedlifedata"} ! eye degenerative disease [Term] id: MONDO:0001378 @@ -18854,7 +19050,7 @@ xref: NCIT:C113400 {source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:11823" xref: SCTID:51292008 {source="DOID:11823", source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0019212 {source="DOID:11823", source="NCIT:C113400", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0001382", source="NCIT:C113400"} ! syndromic disease -is_a: MONDO:0005154 {source="DOID:11823", source="MESH:D006530", source="linkedlifedata"} ! liver disease +is_a: MONDO:0005154 {source="DOID:11823", source="MESH:D006530", source="linkedlifedata", source="linkedlifedata/inferred"} ! liver disease relationship: disease_has_feature MONDO:0001106 ! kidney failure relationship: excluded_subClassOf MONDO:0002492 {source="DOID:11823"} ! acute kidney failure property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6610/hepatorenal-syndrome xsd:anyURI {source="GARD:0006610"} @@ -18878,8 +19074,8 @@ xref: SCTID:193278001 {source="DOID:11829"} xref: SCTID:193625005 {source="DOID:11829"} xref: SCTID:32022003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11829", source="MONDO:equivalentTo"} xref: UMLS:C0154778 {source="DOID:11829", source="MONDO:equivalentTo"} -is_a: MONDO:0001384 {source="DOID:11829", source="MESH:D047728", source="linkedlifedata"} ! myopia (disease) -is_a: MONDO:0004884 {source="DOID:11829", source="linkedlife"} ! eye degenerative disease +is_a: MONDO:0001384 {source="DOID:11829", source="MESH:D047728", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopia (disease) +is_a: MONDO:0004884 {source="DOID:11829", source="linkedlifedata"} ! eye degenerative disease [Term] id: MONDO:0001384 @@ -18915,8 +19111,8 @@ xref: MESH:D019575 {source="DOID:11831", source="MONDO:ontobio", source="MONDO:e xref: NCIT:C118707 {source="DOID:11831", source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equivalentTo"} xref: SCTID:68574006 {source="DOID:11831", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155320 {source="DOID:11831", source="NCIT:C118707", source="MONDO:equivalentTo"} -is_a: MONDO:0001941 {source="MESH:D019575", source="NCIT:C118707", source="linkedlife"} ! blindness (disorder) -is_a: MONDO:0003584 {source="DOID:11831"} ! visual cortex disease +is_a: MONDO:0001941 {source="MESH:D019575", source="NCIT:C118707", source="linkedlifedata"} ! blindness (disorder) +is_a: MONDO:0003584 {source="DOID:11831", source="linkedlifedata"} ! visual cortex disease intersection_of: MONDO:0001941 ! blindness (disorder) intersection_of: disease_has_basis_in_dysfunction_of UBERON:0000411 ! visual cortex @@ -18930,8 +19126,8 @@ xref: MESH:D012640 {source="DOID:11832", source="MONDO:equivalentTo"} xref: NCIT:C3980 {source="DOID:11832", source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equivalentTo"} xref: SCTID:39194005 {source="DOID:11832", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0270824 {source="DOID:11832", source="NCIT:C3980", source="MONDO:equivalentTo"} -is_a: MONDO:0003584 {source="DOID:11832"} ! visual cortex disease -is_a: MONDO:0005027 {source="DOID:11832", source="MONDO:Redundant", source="NCIT:C3980/inferred", source="linkedlifedata"} ! epilepsy +is_a: MONDO:0003584 {source="DOID:11832", source="linkedlifedata"} ! visual cortex disease +is_a: MONDO:0005027 {source="DOID:11832", source="MESH:D012640", source="MONDO:Redundant", source="NCIT:C3980/inferred", source="linkedlifedata"} ! epilepsy is_a: MONDO:0017768 {source="NCIT:C3980"} ! reflex epilepsy [Term] @@ -18992,8 +19188,8 @@ xref: SCTID:204380003 {source="DOID:11843"} xref: SCTID:28574005 {source="DOID:11843", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:361215006 {source="DOID:11843"} xref: UMLS:C0158623 {source="DOID:11843"} -is_a: MONDO:0005010 {source="DOID:11843"} ! coronary artery disease -is_a: MONDO:0005453 {source="SCTID:28574005"} ! congenital heart disease +is_a: MONDO:0005010 {source="DOID:11843", source="linkedlifedata"} ! coronary artery disease +is_a: MONDO:0005453 {source="linkedlifedata"} ! congenital heart disease [Term] id: MONDO:0001390 @@ -19089,7 +19285,7 @@ xref: MESH:D020422 {source="DOID:1188", source="MONDO:equivalentTo"} xref: SCTID:128189008 {source="DOID:1188", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: SCTID:304595001 {source="DOID:1188"} xref: UMLS:C0494491 {source="DOID:1188", source="MONDO:equivalentTo"} -is_a: MONDO:0005244 {source="DOID:1188", source="MONDOLEX:0001397", source="linkedlifedata"} ! peripheral neuropathy +is_a: MONDO:0005244 {source="DOID:1188", source="MONDOLEX:0001397", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy [Term] id: MONDO:0001398 @@ -19105,6 +19301,7 @@ synonym: "benign ureteral neoplasm" EXACT [NCIT:C3617] synonym: "benign ureteral tumor" EXACT [NCIT:C3617] synonym: "benign ureteric neoplasm" EXACT [NCIT:C3617] synonym: "benign ureteric neoplasm NOS" RELATED EXCLUDE [NCIT:C3617] +synonym: "neoplasm of ureter" EXACT [DOID:11885] synonym: "neoplasm of ureter (disorder)" BROAD [DOID:11885, SCTID:126882009] synonym: "ureter benign neoplasm" EXACT [MONDO:patterns/location] synonym: "ureteral benign neoplasm" RELATED [DOID:11885] @@ -19153,7 +19350,7 @@ synonym: "ureteral schwannoma" EXACT [DOID:11888, NCIT:C6162] xref: DOID:11888 {source="MONDO:equivalentTo"} xref: NCIT:C6162 {source="DOID:11888", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1336877 {source="DOID:11888", source="NCIT:C6162", source="MONDO:equivalentTo"} -is_a: MONDO:0001398 {source="MONDO:Entailed", source="NCIT:C6162", source="OWLReasoner:Elk-2018-01-05"} ! ureter benign neoplasm +is_a: MONDO:0001398 {source="DOID:11888", source="MONDO:Entailed", source="NCIT:C6162", source="OWLReasoner:Elk-2018-01-05"} ! ureter benign neoplasm is_a: MONDO:0004820 {source="DOID:11888", source="NCIT:C6162"} ! peripheral nerve schwannoma intersection_of: MONDO:0002546 ! schwannoma intersection_of: disease_has_location UBERON:0000056 ! ureter @@ -19187,6 +19384,7 @@ synonym: "malignant vagina neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C7410] synonym: "malignant vagina tumor" EXACT [NCIT:C7410] synonym: "malignant vaginal neoplasm" EXACT [NCIT:C7410] synonym: "malignant vaginal tumor" EXACT [DOID:119, NCIT:C7410] +synonym: "neoplasm of vagina" EXACT [DOID:119] synonym: "neoplasm of vagina (disorder)" BROAD [DOID:119, SCTID:126921000] synonym: "vagina cancer" EXACT [MONDO:patterns/location] synonym: "vagina neoplasm" BROAD [CSP2005:2016-2004, DOID:119] @@ -19204,7 +19402,7 @@ xref: SCTID:188210000 {source="DOID:119"} xref: SCTID:363445000 {source="DOID:119", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.76/3.46"} xref: UMLS:C0042237 {source="DOID:119", source="NCIT:C7410"} xref: UMLS:C0042258 {source="DOID:119"} -is_a: MONDO:0001416 {source="DOID:119", source="MONDO:Entailed", source="NCIT:C7410"} ! female reproductive organ cancer +is_a: MONDO:0001416 {source="DOID:119", source="MONDO:Entailed", source="NCIT:C7410", source="linkedlifedata/inferred"} ! female reproductive organ cancer is_a: MONDO:0021050 {source="MONDO:Entailed", source="NCIT:C7410", source="OWLReasoner:2017", source="linkedlifedata"} ! vaginal neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000996 ! vagina @@ -19272,7 +19470,7 @@ xref: SCTID:266150008 {source="DOID:11917"} xref: SCTID:399029005 {source="MONDO:equivalentTo"} xref: SCTID:59089002 {source="DOID:11917"} xref: UMLS:C0011638 {source="DOID:11917", source="NCIT:C34535", source="MONDO:equivalentTo"} -is_a: MONDO:0004678 {source="DOID:11917", source="NCIT:C34535"} ! dermatophytosis +is_a: MONDO:0004678 {source="DOID:11917", source="NCIT:C34535", source="linkedlifedata", source="linkedlifedata/inferred"} ! dermatophytosis [Term] id: MONDO:0001406 @@ -19323,8 +19521,8 @@ xref: SCTID:189953001 {source="DOID:1192"} xref: UMLS:C0031118 {source="DOID:1192", source="NCIT:C3321", source="MONDO:equivalentTo"} xref: UMLS:C0206417 {source="ONCOTREE:PNS"} xref: UMLS:C0206727 {source="DOID:1192"} -is_a: MONDO:0003620 {source="MESH:D010524", source="MONDO:Entailed", source="NCIT:C3321", source="OWLReasoner:2017", source="linkedlifedata"} ! peripheral nervous system disease -is_a: MONDO:0005070 {source="MESH:D010524/inferred", source="MONDO:0001406/inferred", source="MONDO:Redundant", source="MONDOLEX:0001406/inferred", source="NCIT:C3321/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0003620 {source="MESH:D010524", source="MONDO:Entailed", source="NCIT:C3321", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral nervous system disease +is_a: MONDO:0005070 {source="DOID:1192/inferred", source="MESH:D010524/inferred", source="MONDO:0001406/inferred", source="MONDO:Redundant", source="MONDOLEX:0001406/inferred", source="NCIT:C3321/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) is_a: MONDO:0021248 {source="MONDO:Entailed", source="MONDOLEX:0001406", source="NCIT:C3321", source="OWLReasoner:Elk-2018-01-09"} ! nervous system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000010 ! peripheral nervous system @@ -19355,8 +19553,8 @@ xref: SCTID:187855003 {source="DOID:11920"} xref: SCTID:269562004 {source="DOID:11920"} xref: SCTID:363432004 {source="DOID:11920", source="MONDO:kboom-pr-0.99/0.92/3.06", source="MONDO:equivalentTo"} xref: UMLS:C0153489 {source="DOID:11920", source="NCIT:C9346", source="MONDO:equivalentTo"} -is_a: MONDO:0000376 {source="DOID:11920", source="MONDO:Entailed", source="linkedlifedata"} ! respiratory system cancer -is_a: MONDO:0002567 {source="MONDO:Redundant", source="NCIT:C9346/inferred", source="OWLReasoner:2017"} ! tracheal disease +is_a: MONDO:0000376 {source="DOID:11920", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system cancer +is_a: MONDO:0002567 {source="DOID:11920", source="MONDO:Redundant", source="NCIT:C9346/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! tracheal disease is_a: MONDO:0021210 {source="MONDO:Entailed", source="MONDOLEX:0001407", source="NCIT:C9346", source="OWLReasoner:Elk-2018-01-09"} ! trachea neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0003126 ! trachea @@ -19372,7 +19570,7 @@ xref: NCIT:C27025 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="DOID:1195", xref: SCTID:129611009 {source="MONDO:kboom-pr-0.93/0.85/0.20", source="DOID:1195", source="MONDO:equivalentTo"} xref: SCTID:230599000 {source="DOID:1195"} xref: UMLS:C0238309 {source="NCIT:C27025", source="DOID:1195", source="MONDO:equivalentTo"} -is_a: MONDO:0005244 {source="DOID:1195", source="MONDOLEX:0001408", source="NCIT:C27025", source="linkedlifedata"} ! peripheral neuropathy +is_a: MONDO:0005244 {source="DOID:1195", source="MONDOLEX:0001408", source="NCIT:C27025", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy [Term] id: MONDO:0001409 @@ -19396,7 +19594,7 @@ xref: SCTID:266498005 {source="DOID:11963"} xref: SCTID:409656006 {source="MONDO:kboom-pr-0.85/0.68/0.23", source="MONDO:equivalentTo"} xref: UMLS:C0014868 {source="DOID:11963", source="NCIT:C9224", source="MONDO:equivalentTo"} xref: UMLS:C0149882 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0003749 {source="MESH:D004941", source="MONDO:Entailed", source="OWLReasoner:2017"} ! esophageal disease +is_a: MONDO:0003749 {source="DOID:11963", source="MESH:D004941", source="MONDO:Entailed", source="NCIT:C9224/inferred", source="OWLReasoner:2017", source="linkedlifedata/inferred"} ! esophageal disease intersection_of: MONDO:0003749 {source="DOID:11963"} ! esophageal disease intersection_of: realized_in_response_to GO:0006954 {source="DOID:11963"} ! inflammatory response @@ -19448,7 +19646,7 @@ xref: ICD10:A21.0 {source="DOID:11990", source="MONDO:equivalentTo"} xref: ICD9:021.0 {source="i2s", source="DOID:11990", source="MONDO:equivalentTo"} xref: SCTID:37722001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11990", source="MONDO:equivalentTo"} xref: UMLS:C0152941 {source="DOID:11990", source="MONDO:equivalentTo"} -is_a: MONDO:0018077 {source="DOID:11990", source="ICD10:A21.0", source="linkedlifedata"} ! tularemia +is_a: MONDO:0018077 {source="DOID:11990", source="ICD10:A21.0", source="linkedlifedata", source="linkedlifedata/inferred"} ! tularemia [Term] id: MONDO:0001414 @@ -19483,7 +19681,7 @@ xref: SCTID:155938008 {source="DOID:11994"} xref: SCTID:17585008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:11994"} xref: SCTID:249242001 {source="DOID:11994"} xref: UMLS:C0156312 {source="MONDO:equivalentTo", source="DOID:11994"} -is_a: MONDO:0002329 {source="DOID:11994", source="linkedlifedata"} ! testicular disease +is_a: MONDO:0002329 {source="DOID:11994", source="NCIT:C123259/inferred", source="linkedlifedata"} ! testicular disease [Term] id: MONDO:0001416 @@ -19609,7 +19807,7 @@ xref: ICD9:239.7 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C5122 {source="DOID:1201", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:126971002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1201", source="MONDO:equivalentTo"} xref: UMLS:C1263897 {source="DOID:1201", source="MONDO:equivalentTo", source="NCIT:C5122"} -is_a: MONDO:0002633 {source="MONDO:Entailed", source="NCIT:C5122", source="linkedlifedata"} ! cranial nerve neoplasm +is_a: MONDO:0002633 {source="DOID:1201", source="MONDO:Entailed", source="NCIT:C5122", source="linkedlifedata"} ! cranial nerve neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001645 ! trigeminal nerve @@ -19635,7 +19833,7 @@ xref: SCTID:363467004 {source="DOID:12016"} xref: SCTID:93807001 {source="DOID:12016"} xref: UMLS:C0153635 {source="DOID:12016"} xref: UMLS:C1263886 {source="MONDO:equivalentTo", source="DOID:12016", source="NCIT:C5572"} -is_a: MONDO:0005560 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! brain disease +is_a: MONDO:0005560 {source="DOID:12016/inferred", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease is_a: MONDO:0021374 {source="MONDO:Entailed", source="NCIT:C5572", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of cerebral hemisphere intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0016525 ! frontal lobe @@ -19663,7 +19861,7 @@ xref: SCTID:190507007 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:120 xref: SCTID:258117004 {source="DOID:12028"} xref: SCTID:267484005 {source="DOID:12028"} xref: UMLS:C1384514 {source="NCIT:C34510", source="DOID:12028"} -is_a: MONDO:0000001 {source="NCIT:C34510/inferred", source="linkedlife/inferred"} ! disease or disorder +is_a: MONDO:0000001 {source="DOID:12028/inferred", source="NCIT:C34510/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! disease or disorder relationship: disease_has_basis_in_disruption_of GO:0035932 ! aldosterone secretion relationship: disease_has_feature HP:0003351 ! Decreased circulating renin level relationship: disease_has_feature HP:0030852 ! High pulse pressure @@ -19693,7 +19891,8 @@ xref: ICD9:321.4 {source="DOID:12055", source="i2s", source="MONDO:equivalentTo" xref: SCTID:192673008 {source="DOID:12055", source="MONDO:kboom-pr-1.00/0.91/27.81", source="MONDO:equivalentTo"} xref: UMLS:C0154648 {source="DOID:12055", source="MONDO:equivalentTo"} is_a: MONDO:0019338 {source="DOID:12055"} ! sarcoidosis -is_a: MONDO:0024891 {source="linkedlife"} ! non-infective meningitis +is_a: MONDO:0024891 {source="linkedlifedata"} ! non-infective meningitis +is_a: MONDO:0045047 {source="linkedlifedata"} ! neurosarcoidosis relationship: excluded_subClassOf MONDO:0004796 {source="DOID:12055"} ! infectious meningitis [Term] @@ -19769,7 +19968,7 @@ xref: NCIT:C35761 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equiva xref: SCTID:66191007 {source="MONDO:equivalentTo"} xref: UMLS:C0152083 {source="NCIT:C35761", source="MONDO:superClassOf"} xref: UMLS:C0158007 {source="DOID:12084"} -is_a: MONDO:0006816 {source="MONDO:Entailed", source="NCIT:C35761", source="linkedlife", source="linkedlife/inferred"} ! arthropathy +is_a: MONDO:0006816 {source="DOID:12084/inferred", source="MONDO:Entailed", source="NCIT:C35761", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! arthropathy intersection_of: MONDO:0006816 ! arthropathy intersection_of: has_modifier HP:0025153 ! Transient @@ -19788,6 +19987,8 @@ is_a: MONDO:0006713 {source="DOID:12087", source="linkedlifedata"} ! corneal neo id: MONDO:0001431 name: toxic or nutritional optic neuropathy def: "A disease with basis in optic nerve damage secondary to a toxic substance and/or nutritional deficiency." [https://en.wikipedia.org/wiki/Toxic_and_nutritional_optic_neuropathy, MONDO:cjm] +synonym: "Nutritional optic neuropathy" EXACT [DOID:1209] +synonym: "nutritional optic neuropathy" RELATED [DOID:1209] synonym: "nutritional optic neuropathy (disorder)" EXACT [DOID:1209, SCTID:82108004] xref: DOID:1209 {source="MONDO:equivalentTo"} xref: ICD10:H46.2 {source="MONDO:equivalentTo", source="DOID:1209"} @@ -19810,6 +20011,7 @@ synonym: "disease of vagina" EXACT [MONDO:patterns/location_top] synonym: "disorder of vagina" EXACT [] synonym: "disorder of vagina" RELATED [MONDO:patterns/location_top] synonym: "vagina disease" EXACT [MONDO:patterns/location] +synonym: "vagina disease or disorder" EXACT [MONDO:design_pattern] synonym: "vaginal disease" EXACT [NCIT:C26910] synonym: "vaginal disorder" EXACT [NCIT:C26910] xref: DOID:121 {source="MONDO:equivalentTo"} @@ -19821,7 +20023,7 @@ xref: SCTID:25658005 {source="DOID:121", source="MONDO:equivalentTo"} xref: SCTID:266665005 {source="DOID:121"} xref: SCTID:286989007 {source="DOID:121"} xref: UMLS:C0042251 {source="DOID:121", source="MONDO:equivalentTo", source="NCIT:C26910"} -is_a: MONDO:0002263 {source="DOID:121", source="MESH:D014623", source="MONDO:Entailed", source="NCIT:C26910", source="linkedlife"} ! female reproductive system disease +is_a: MONDO:0002263 {source="DOID:121", source="MESH:D014623", source="MONDO:Entailed", source="NCIT:C26910", source="linkedlifedata"} ! female reproductive system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000996 ! vagina @@ -19867,8 +20069,8 @@ xref: NCIT:C82892 {source="DOID:12119", source="NCIT:C82892", source="MONDO:equi xref: SCTID:190849009 {source="DOID:12119"} xref: SCTID:39011001 {source="DOID:12119", source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0019114 {source="DOID:12119", source="NCIT:C82892", source="MONDO:equivalentTo"} -is_a: MONDO:0002279 {source="DOID:12119", source="MESH:D006486/inferred", source="linkedlifedata"} ! iron metabolism disease -is_a: MONDO:0005066 {source="MESH:D006486/inferred", source="MONDO:Redundant", source="NCIT:C82892", source="linkedlifedata"} ! metabolic disease +is_a: MONDO:0002279 {source="DOID:12119", source="MESH:D006486/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! iron metabolism disease +is_a: MONDO:0005066 {source="DOID:12119/inferred", source="MESH:D006486/inferred", source="MONDO:Redundant", source="NCIT:C82892", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6595/hemosiderosis xsd:anyURI {source="GARD:0006595"} [Term] @@ -19892,7 +20094,7 @@ xref: Orphanet:264675 {source="DOID:12120", source="MONDO:superClassOf"} xref: Reactome:R-HSA-5683826 xref: SCTID:10501004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12120", source="MONDO:equivalentTo"} xref: UMLS:C0034050 {source="NCIT:C85037", source="DOID:12120", source="MONDO:equivalentTo"} -is_a: MONDO:0005275 {source="DOID:12120", source="MESH:D011649", source="MONDO:Entailed", source="linkedlife/inferred"} ! lung disease +is_a: MONDO:0005275 {source="DOID:12120", source="MESH:D011649", source="MONDO:Entailed", source="NCIT:C85037/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disease relationship: disease_disrupts GO:0007585 ! respiratory gaseous exchange relationship: disease_has_location CL:0002063 {source="MONDO:cjm"} ! type II pneumocyte relationship: disease_has_major_feature HP:0006517 ! Alveolar proteinosis @@ -19924,7 +20126,7 @@ xref: ICD9:379.01 {source="i2s", source="DOID:12124", source="MONDO:equivalentTo xref: SCTID:194141004 {source="DOID:12124"} xref: SCTID:31166000 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:12124", source="MONDO:equivalentTo"} xref: UMLS:C0155351 {source="DOID:12124", source="MONDO:equivalentTo"} -is_a: MONDO:0001269 {source="DOID:12124"} ! scleral disease +is_a: MONDO:0001269 {source="DOID:12124", source="linkedlifedata/inferred"} ! scleral disease [Term] id: MONDO:0001440 @@ -19950,7 +20152,7 @@ xref: SCTID:14077003 {source="DOID:12128", source="MONDO:equivalentTo"} xref: SCTID:154938001 {source="DOID:12128"} xref: SCTID:268779001 {source="DOID:12128"} xref: UMLS:C0031873 {source="DOID:12128"} -is_a: MONDO:0005451 {source="DOID:12128"} ! eating disorder +is_a: MONDO:0005451 {source="DOID:12128", source="linkedlifedata"} ! eating disorder [Term] id: MONDO:0001442 @@ -19967,7 +20169,7 @@ xref: NCIT:C34562 {source="DOID:12139", source="MONDO:kboom-pr-1.00/0.92/31.20", xref: SCTID:192384008 {source="DOID:12139"} xref: SCTID:78667006 {source="DOID:12139", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.76/0.14"} xref: UMLS:C0013415 {source="DOID:12139", source="NCIT:C34562"} -is_a: MONDO:0005371 {source="DOID:12139", source="EFO:0008623", source="ICD10:F34.1/inferred", source="MESH:D019263/inferred", source="NCIT:C34562", source="linkedlifedata"} ! mood disorder +is_a: MONDO:0005371 {source="DOID:12139", source="EFO:0008623", source="ICD10:F34.1/inferred", source="MESH:D019263/inferred", source="NCIT:C34562", source="linkedlifedata", source="linkedlifedata/inferred"} ! mood disorder [Term] id: MONDO:0001443 @@ -19982,7 +20184,7 @@ xref: MESH:D063371 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:111540000 {source="DOID:1214"} xref: SCTID:23606001 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0155477 {source="DOID:1214"} -is_a: MONDO:0003648 {source="DOID:1214", source="linkedlife"} ! tympanic membrane disease +is_a: MONDO:0003648 {source="DOID:1214", source="linkedlifedata"} ! tympanic membrane disease [Term] id: MONDO:0001444 @@ -20023,8 +20225,8 @@ xref: UMLS:C0041234 {source="Orphanet:3386", source="ORDO:3386/e", source="MONDO xref: UMLS:C0153125 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:C0348781 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:C0348782 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0000940 {source="DOID:12140", source="EFO:0008559", source="MONDO:Entailed", source="linkedlife"} ! trypanosomiasis -is_a: MONDO:0005135 {source="EFO:0008559/inferred", source="MONDO:Redundant", source="NCIT:C84629"} ! parasitic infection +is_a: MONDO:0000940 {source="DOID:12140", source="EFO:0008559", source="MESH:D014355", source="MONDO:Entailed", source="linkedlifedata"} ! trypanosomiasis +is_a: MONDO:0005135 {source="DOID:12140/inferred", source="EFO:0008559/inferred", source="MESH:D014355/inferred", source="MONDO:Redundant", source="NCIT:C84629", source="linkedlifedata/inferred"} ! parasitic infection is_a: MONDO:0015577 {source="Orphanet:3386"} ! rare parasitic disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:5693 ! Trypanosoma cruzi @@ -20065,7 +20267,7 @@ xref: DOID:12144 {source="MONDO:equivalentTo"} xref: ICD9:596.52 {source="i2s", source="DOID:12144", source="MONDO:equivalentTo"} xref: SCTID:9009001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12144", source="MONDO:equivalentTo"} xref: UMLS:C0489967 {source="DOID:12144", source="MONDO:equivalentTo"} -is_a: MONDO:0006026 {source="DOID:12144", source="linkedlifedata"} ! urinary bladder disease +is_a: MONDO:0006026 {source="DOID:12144", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary bladder disease [Term] id: MONDO:0001447 @@ -20076,7 +20278,7 @@ xref: HP:0025488 {source="MONDO:otherHierarchy", source="ontobio"} xref: ICD9:596.55 {source="DOID:12145"} xref: SCTID:236655005 {source="DOID:12145", source="MONDO:equivalentTo"} xref: UMLS:C0341747 {source="DOID:12145", source="MONDO:equivalentTo"} -is_a: MONDO:0006026 {source="DOID:12145"} ! urinary bladder disease +is_a: MONDO:0006026 {source="DOID:12145", source="linkedlifedata/inferred"} ! urinary bladder disease [Term] id: MONDO:0001448 @@ -20223,6 +20425,8 @@ name: ulnar nerve lesion def: "A peripheral nerve lesion that involves the ulnar nerve." [MONDO:patterns/location] comment: Editor note: todo DP for lesions synonym: "lesion of ulnar nerve" EXACT [DOID:12168, ICD9CM_2006:354.2] +synonym: "peripheral nerve lesion of ulnar nerve" EXACT [MONDO:design_pattern] +synonym: "ulnar nerve peripheral nerve lesion" EXACT [MONDO:design_pattern] xref: COHD:374027 {source="MONDO:equivalentTo"} xref: DOID:12168 {source="MONDO:equivalentTo"} xref: ICD10:G56.2 {source="DOID:12168"} @@ -20236,7 +20440,7 @@ xref: SCTID:359834003 {source="DOID:12168"} xref: SCTID:367475009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12168", source="MONDO:equivalentTo"} xref: SCTID:55802003 {source="DOID:12168"} xref: UMLS:C1288279 {source="DOID:12168", source="MONDO:equivalentTo"} -is_a: MONDO:0007006 {source="MONDO:cjm", source="linkedlife"} ! ulnar neuropathy +is_a: MONDO:0007006 {source="MONDO:cjm", source="linkedlifedata"} ! ulnar neuropathy intersection_of: MONDO:0024334 ! peripheral nerve lesion intersection_of: disease_has_location UBERON:0001494 ! ulnar nerve relationship: excluded_subClassOf MONDO:0003607 {source="DOID:12168"} ! neuritis of upper limb @@ -20245,6 +20449,8 @@ relationship: excluded_subClassOf MONDO:0003607 {source="DOID:12168"} ! neuritis id: MONDO:0001459 name: radial neuropathy def: "Disease involving the radial nerve. Clinical features include weakness of elbow extension, elbow flexion, supination of the forearm, wrist and finger extension, and thumb abduction. Sensation may be impaired over regions of the dorsal forearm. Common sites of compression or traumatic injury include the axilla and radial groove of the humerus." [MESH:D020425] +synonym: "peripheral neuropathy of radial nerve" EXACT [MONDO:design_pattern] +synonym: "radial nerve peripheral neuropathy" EXACT [MONDO:design_pattern] synonym: "radial neuropathy (disorder)" EXACT [DOID:12171, SCTID:16644004] xref: DOID:12171 {source="MONDO:equivalentTo"} xref: MESH:D020425 {source="DOID:12171", source="MONDO:equivalentTo"} @@ -20282,8 +20488,8 @@ xref: SCTID:266151007 {source="DOID:12179"} xref: SCTID:84849002 {source="MONDO:kboom-pr-0.88/0.76/0.10", source="DOID:12179", source="MONDO:equivalentTo"} xref: UMLS:C0040252 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C0546826 {source="DOID:12179", source="MONDO:equivalentTo"} -is_a: MONDO:0004678 {source="DOID:12179", source="ICD10:B35.4", source="linkedlifedata"} ! dermatophytosis -is_a: MONDO:0005093 {source="DOID:12179", source="MONDO:Redundant", source="linkedlifedata"} ! skin disease +is_a: MONDO:0004678 {source="DOID:12179", source="ICD10:B35.4", source="linkedlifedata", source="linkedlifedata/inferred"} ! dermatophytosis +is_a: MONDO:0005093 {source="DOID:12179", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease relationship: disease_has_feature HP:0000988 ! Skin rash relationship: realized_in_response_to_stimulus NCBITaxon:4751 ! Fungi relationship: realized_in_response_to_stimulus NCBITaxon:4890 ! Ascomycota @@ -20309,7 +20515,7 @@ xref: SCTID:269536008 {source="DOID:12190"} xref: SCTID:363409003 {source="DOID:12190", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:93771007 {source="DOID:12190"} xref: UMLS:C0153435 {source="DOID:12190", source="MONDO:equivalentTo"} -is_a: MONDO:0021063 {source="MONDO:Entailed", source="MONDOLEX:0001462", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! malignant colon neoplasm +is_a: MONDO:0021063 {source="DOID:12190", source="MONDO:Entailed", source="MONDOLEX:0001462", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! malignant colon neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001158 ! descending colon @@ -20359,7 +20565,7 @@ xref: SCTID:363410008 {source="DOID:12192", source="MONDO:kboom-pr-1.00/0.92/29. xref: SCTID:94006002 {source="DOID:12192"} xref: UMLS:C0153436 {source="DOID:12192", source="MONDO:equivalentTo"} is_a: MONDO:0006971 {source="MONDO:Entailed", source="MONDOLEX:0001464", source="OWLReasoner:2017", source="linkedlifedata"} ! sigmoid neoplasm -is_a: MONDO:0021063 {source="MONDO:Entailed", source="MONDOLEX:0001464", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! malignant colon neoplasm +is_a: MONDO:0021063 {source="DOID:12192", source="MONDO:Entailed", source="MONDOLEX:0001464", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! malignant colon neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001159 ! sigmoid colon @@ -20390,7 +20596,7 @@ xref: SCTID:267634006 {source="DOID:12197"} xref: SCTID:416069001 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:12197", source="MONDO:equivalentTo"} xref: SCTID:42513006 {source="DOID:12197"} xref: UMLS:C0259799 {source="DOID:12197", source="MONDO:equivalentTo"} -is_a: MONDO:0001465 {source="DOID:12197", source="linkedlifedata"} ! superficial keratitis +is_a: MONDO:0001465 {source="DOID:12197", source="linkedlifedata", source="linkedlifedata/inferred"} ! superficial keratitis is_a: MONDO:0004768 {source="DOID:12197", source="MONDOLEX:0001466"} ! keratoconjunctivitis [Term] @@ -20407,12 +20613,18 @@ is_a: MONDO:0002471 {source="DOID:12223", source="linkedlifedata"} ! bursitis [Term] id: MONDO:0001468 -name: Plica syndrome +name: synovial plica syndrome +synonym: "plica syndrome" EXACT [] +synonym: "synovial plica of knee" EXACT [] xref: DOID:12225 {source="MONDO:equivalentTo"} xref: ICD10:M67.5 {source="DOID:12225"} xref: ICD9:727.83 {source="DOID:12225"} +xref: ICD9:727.9 {source="i2s"} +xref: SCTID:240171001 {source="MONDO:equivalentTo"} xref: UMLS:C0878705 {source="DOID:12225"} -is_a: MONDO:0006816 {source="DOID:12225"} ! arthropathy +is_a: MONDO:0006816 {source="DOID:12225", source="linkedlifedata"} ! arthropathy +relationship: disease_has_location UBERON:0001465 ! knee +relationship: disease_has_location UBERON:0002018 ! synovial membrane of synovial joint [Term] id: MONDO:0001469 @@ -20486,7 +20698,7 @@ xref: ICD10:E27.5 {source="DOID:12257"} xref: ICD9:255.6 {source="i2s", source="DOID:12257", source="MONDO:equivalentTo"} xref: SCTID:111565003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12257", source="MONDO:equivalentTo"} xref: UMLS:C0154206 {source="DOID:12257", source="MONDO:equivalentTo"} -is_a: MONDO:0005495 {source="DOID:12257", source="linkedlife/inferred"} ! adrenal gland disease +is_a: MONDO:0005495 {source="DOID:12257", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! adrenal gland disease [Term] id: MONDO:0001474 @@ -20551,7 +20763,7 @@ xref: Orphanet:98945 {source="DOID:12270", source="MONDO:superClassOf"} xref: SCTID:92828000 {source="DOID:12270"} xref: SCTID:93390002 {source="DOID:12270", source="MONDO:kboom-pr-0.84/0.62/0.50", source="MONDO:equivalentTo"} xref: UMLS:C0009363 {source="DOID:12270", source="NCIT:C98877"} -is_a: MONDO:0005328 {source="DOID:12270", source="MESH:D003103/inferred", source="NCIT:C98877/inferred", source="linkedlifedata"} ! eye disease +is_a: MONDO:0005328 {source="DOID:12270", source="MESH:D003103/inferred", source="NCIT:C98877/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease [Term] id: MONDO:0001477 @@ -20589,7 +20801,7 @@ xref: NCIT:C34544 {source="DOID:12275", source="MONDO:kboom-pr-1.00/0.87/15.87", xref: SCTID:18901009 {source="DOID:12275", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0012555 {source="DOID:12275", source="NCIT:C34544", source="MONDO:equivalentTo"} is_a: MONDO:0002922 {source="DOID:12275"} ! pyoderma -is_a: MONDO:0021201 {source="NCIT:C34544"} ! skin infection +is_a: MONDO:0021201 {source="NCIT:C34544", source="linkedlifedata/inferred"} ! skin infection relationship: disease_has_feature HP:0000999 ! Pyoderma [Term] @@ -20621,6 +20833,7 @@ synonym: "phlebitis and thrombophlebitis of femoral vein" EXACT [DOID:12282] synonym: "phlebitis and thrombophlebitis of femoral vein (deep) (superficial)" EXACT [DOID:12282, ICD9CM_2006:451.11] synonym: "thrombophlebitis of deep femoral vein" EXACT [DOID:12282] synonym: "thrombophlebitis of deep femoral vein (disorder)" EXACT [DOID:12282, SCTID:1748006] +synonym: "thrombophlebitis of femoral vein" EXACT [MONDO:design_pattern] synonym: "thrombophlebitis of the femoral vein" EXACT [DOID:12282] synonym: "thrombophlebitis of the femoral vein (disorder)" EXACT [DOID:12282, SCTID:195410000] xref: COHD:439314 {source="MONDO:equivalentTo"} @@ -20683,7 +20896,7 @@ xref: SCTID:64905009 {source="DOID:1229"} xref: UMLS:C0036349 {source="DOID:1229", source="NCIT:C35006"} xref: UMLS:C0154354 {source="DOID:1229"} xref: UMLS:C0270398 {source="DOID:1229"} -is_a: MONDO:0005090 {source="DOID:1229", source="NCIT:C35006", source="linkedlifedata"} ! schizophrenia (disease) +is_a: MONDO:0005090 {source="DOID:1229", source="NCIT:C35006", source="linkedlifedata", source="linkedlifedata/inferred"} ! schizophrenia (disease) [Term] id: MONDO:0001485 @@ -20698,7 +20911,7 @@ xref: SCTID:191659001 {source="DOID:12294", source="MONDO:kboom-pr-1.00/0.85/15. xref: SCTID:192371004 {source="DOID:12294"} xref: SCTID:277538003 {source="DOID:12294"} xref: UMLS:C0154437 {source="DOID:12294"} -is_a: MONDO:0005371 {source="DOID:12294", source="linkedlifedata"} ! mood disorder +is_a: MONDO:0005371 {source="DOID:12294", source="linkedlifedata", source="linkedlifedata/inferred"} ! mood disorder relationship: disease_has_feature HP:0001262 ! Excessive daytime somnolence relationship: disease_has_feature HP:0003470 ! Paralysis relationship: disease_has_feature HP:0100786 ! Hypersomnia @@ -20757,8 +20970,7 @@ replaced_by: MONDO:0019316 [Term] id: MONDO:0001490 name: corneal granular dystrophy -def: "A stromal corneal dystrophy that is caused by mutation(s) in the TGFB1 gene." [NCIT:P378-modified] -comment: Editor note: TODO fix typo in NCIT TGFBI +def: "A stromal corneal dystrophy that is caused by mutation(s) in the TGFBI gene." [NCIT:P378] synonym: "granular corneal dystrophy" EXACT [DOID:12318, ICD9CM_2006:371.53] xref: DOID:12318 {source="MONDO:equivalentTo"} xref: ICD10:H18.53 {source="DOID:12318", source="MONDO:equivalentTo"} @@ -20767,9 +20979,9 @@ xref: MESH:D003317 {source="DOID:12318", source="MONDO:subClassOf"} xref: NCIT:C34651 {source="DOID:12318", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:45283008 {source="DOID:12318", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0018179 {source="DOID:12318", source="NCIT:C34651", source="MONDO:equivalentTo"} -is_a: MONDO:0000764 {source="DOID:12318"} ! epithelial-stromal TGFB1 dystrophy +is_a: MONDO:0000764 {source="DOID:12318"} ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0003847 {source="NCIT:C34651"} ! inherited genetic disease -is_a: MONDO:0018102 {source="MONDO:Redundant", source="NCIT:C34651", source="linkedlifedata"} ! corneal dystrophy (disease) +is_a: MONDO:0018102 {source="DOID:12318/inferred", source="MONDO:Redundant", source="NCIT:C34651", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal dystrophy (disease) [Term] id: MONDO:0001491 @@ -20850,7 +21062,7 @@ xref: MESH:D006398 {source="MONDO:ontobio", source="DOID:12332", source="MONDO:e xref: SCTID:66259004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12332", source="MONDO:equivalentTo"} xref: UMLS:C0018931 {source="DOID:12332", source="MONDO:equivalentTo"} xref: UMLS:C1456400 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0003150 {source="DOID:12332", source="MESH:D006398"} ! male reproductive system disease +is_a: MONDO:0003150 {source="DOID:12332", source="MESH:D006398", source="linkedlifedata/inferred"} ! male reproductive system disease [Term] id: MONDO:0001496 @@ -20862,7 +21074,7 @@ xref: ICD9:608.85 {source="i2s", source="DOID:12333", source="MONDO:equivalentTo xref: SCTID:198064007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12333", source="MONDO:equivalentTo"} xref: SCTID:198067000 {source="DOID:12333"} xref: UMLS:C0156316 {source="DOID:12333"} -is_a: MONDO:0003150 {source="DOID:12333"} ! male reproductive system disease +is_a: MONDO:0003150 {source="DOID:12333", source="linkedlifedata/inferred"} ! male reproductive system disease [Term] id: MONDO:0001497 @@ -20873,7 +21085,7 @@ xref: ICD10:N50.1 {source="DOID:12335"} xref: ICD9:608.83 {source="i2s", source="MONDO:equivalentTo", source="DOID:12335"} xref: SCTID:198057005 {source="MONDO:equivalentTo", source="DOID:12335"} xref: UMLS:C0042374 {source="MONDO:equivalentTo", source="DOID:12335", source="MEDGEN:kboom-pr92-c96"} -is_a: MONDO:0003150 {source="DOID:12335"} ! male reproductive system disease +is_a: MONDO:0003150 {source="DOID:12335", source="linkedlifedata/inferred"} ! male reproductive system disease [Term] id: MONDO:0001498 @@ -20881,6 +21093,7 @@ name: varicocele def: "A condition characterized by the dilated tortuous veins of the spermatic cord with a marked left-sided predominance. Adverse effect on male fertility occurs when varicocele leads to an increased scrotal (and testicular) temperature and reduced testicular volume." [MESH:D014646] synonym: "scrotal varices" EXACT [DOID:12337, ICD9CM_2006:456.4] synonym: "scrotum varicose disease" EXACT [MONDO:patterns/location] +synonym: "varicose disease of scrotum" EXACT [MONDO:design_pattern] xref: COHD:73801 {source="MONDO:equivalentTo"} xref: DOID:12337 {source="MONDO:equivalentTo"} xref: ICD10:I86.1 {source="DOID:12337", source="MONDO:equivalentTo"} @@ -20891,7 +21104,7 @@ xref: SCTID:195480007 {source="DOID:12337"} xref: SCTID:46871008 {source="DOID:12337", source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo"} xref: SCTID:51070004 {source="DOID:12337"} xref: UMLS:C0042341 {source="DOID:12337", source="MONDO:equivalentTo"} -is_a: MONDO:0003150 {source="MESH:D014646", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-16"} ! male reproductive system disease +is_a: MONDO:0003150 {source="MESH:D014646", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-16", source="linkedlifedata/inferred"} ! male reproductive system disease is_a: MONDO:0004869 {source="DOID:12337"} ! pelvic varices intersection_of: MONDO:0008638 ! varicose disease intersection_of: disease_has_location UBERON:0001300 ! scrotum @@ -20900,6 +21113,7 @@ intersection_of: disease_has_location UBERON:0001300 ! scrotum id: MONDO:0001499 name: retroperitoneal lymphoma def: "A lymphoma that involves the retroperitoneal space." [MONDO:patterns/location] +synonym: "lymphoma of retroperitoneal space" EXACT [MONDO:design_pattern] synonym: "primary retroperitoneal lymphoma" EXACT [NCIT:C7353] synonym: "retroperitoneal lymphoma" EXACT [NCIT:C7353] synonym: "retroperitoneal space lymphoma" EXACT [MONDO:patterns/location] @@ -20944,8 +21158,8 @@ xref: DOID:12341 {source="MONDO:equivalentTo"} xref: NCIT:C4832 {source="DOID:12341", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:307219002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12341", source="MONDO:equivalentTo"} xref: UMLS:C0585129 {source="NCIT:C4832", source="DOID:12341", source="MONDO:equivalentTo"} -is_a: MONDO:0005089 {source="MONDO:Redundant", source="NCIT:C4832/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! sarcoma -is_a: MONDO:0005941 {source="DOID:12341", source="NCIT:C4832", source="linkedlifedata"} ! retroperitoneal cancer +is_a: MONDO:0005089 {source="MONDO:Redundant", source="NCIT:C4832/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! sarcoma +is_a: MONDO:0005941 {source="DOID:12341", source="NCIT:C4832", source="linkedlifedata", source="linkedlifedata/inferred"} ! retroperitoneal cancer is_a: MONDO:0018078 {source="NCIT:C4832"} ! soft tissue sarcoma intersection_of: MONDO:0005089 ! sarcoma intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space @@ -20963,7 +21177,7 @@ synonym: "retroperitoneal space carcinoma" EXACT [MONDO:patterns/location] xref: DOID:12342 {source="MONDO:equivalentTo"} xref: NCIT:C7352 {source="MONDO:kboom-pr-0.98/0.76/3.33", source="DOID:12342", source="MONDO:equivalentTo"} xref: UMLS:C0948749 {source="DOID:12342", source="MONDO:equivalentTo", source="NCIT:C7352"} -is_a: MONDO:0004993 {source="MONDO:Entailed", source="MONDOLEX:0001502", source="NCIT:C7352", source="OWLReasoner:2017"} ! carcinoma +is_a: MONDO:0004993 {source="DOID:12342", source="MONDO:Entailed", source="MONDOLEX:0001502", source="NCIT:C7352", source="OWLReasoner:2017"} ! carcinoma is_a: MONDO:0005941 {source="DOID:12342", source="MONDOLEX:0001502", source="NCIT:C7352"} ! retroperitoneal cancer intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0003693 ! retroperitoneal space @@ -20992,7 +21206,7 @@ xref: NCIT:C94353 {source="DOID:1235", source="MONDO:kboom-pr-1.00/0.87/15.87", xref: SCTID:192513009 {source="DOID:1235"} xref: SCTID:59174009 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:1235", source="MONDO:equivalentTo"} xref: UMLS:C0015957 {source="DOID:1235", source="NCIT:C94353"} -is_a: MONDO:0000596 {source="DOID:1235", source="linkedlifedata"} ! paraphilic disorder +is_a: MONDO:0000596 {source="DOID:1235", source="MESH:D005329", source="linkedlifedata"} ! paraphilic disorder [Term] id: MONDO:0001505 @@ -21019,7 +21233,9 @@ xref: SCTID:9953008 {source="DOID:12351"} xref: UMLS:C0001306 {source="DOID:12351", source="MONDO:equivalentTo"} xref: UMLS:C0019187 {source="NCIT:C34684"} is_a: MONDO:0002251 {source="DOID:12351", source="MESH:D006519", source="NCIT:C34684"} ! hepatitis -is_a: MONDO:0043693 {source="MONDOLEX:0001505", source="NCIT:C34684"} ! alcoholic liver diseases +is_a: MONDO:0043693 {source="MESH:D006519", source="MONDOLEX:0001505", source="NCIT:C34684", source="linkedlifedata"} ! alcoholic liver diseases +intersection_of: MONDO:0002251 ! hepatitis +intersection_of: realized_in_response_to ECTO:0001082 ! alcohol consumption related exposure [Term] id: MONDO:0001506 @@ -21029,7 +21245,7 @@ xref: ICD10:N41.3 {source="DOID:12355", source="MONDO:equivalentTo"} xref: ICD9:601.3 {source="i2s", source="DOID:12355", source="MONDO:equivalentTo"} xref: SCTID:67685000 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:12355", source="MONDO:equivalentTo"} xref: UMLS:C0156291 {source="DOID:12355", source="MONDO:equivalentTo"} -is_a: MONDO:0003105 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! prostate disease +is_a: MONDO:0003105 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! prostate disease is_a: MONDO:0006032 {source="DOID:12355", source="MONDO:Entailed", source="linkedlifedata"} ! cystitis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001255 ! urinary bladder @@ -21049,7 +21265,7 @@ xref: ICD9:386.35 {source="i2s", source="MONDO:equivalentTo", source="DOID:12357 xref: SCTID:34243007 {source="DOID:12357"} xref: SCTID:409711008 {source="MONDO:equivalentTo", source="DOID:12357", source="MONDO:kboom-pr-0.93/0.83/0.57"} xref: UMLS:C0155508 {source="MONDO:equivalentTo", source="DOID:12357"} -is_a: MONDO:0002008 {source="DOID:12357", source="linkedlifedata"} ! labyrinthitis +is_a: MONDO:0002008 {source="DOID:12357", source="DOID:12357/inferred", source="linkedlifedata"} ! labyrinthitis intersection_of: MONDO:0002008 ! labyrinthitis intersection_of: realized_in_response_to_stimulus NCBITaxon:10239 ! Viruses @@ -21135,7 +21351,7 @@ xref: SCTID:12068006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1236 xref: SCTID:197935003 {source="DOID:12369"} xref: UMLS:C0238502 {source="DOID:12369", source="MONDO:equivalentTo"} is_a: MONDO:0001592 {source="DOID:12369", source="ICD10:N81.0"} ! prolapse of female genital organ -is_a: MONDO:0004184 {source="DOID:12369"} ! urethral disease +is_a: MONDO:0004184 {source="DOID:12369", source="linkedlifedata"} ! urethral disease [Term] id: MONDO:0001515 @@ -21151,7 +21367,7 @@ xref: SCTID:111521006 {source="DOID:1237", source="MONDO:kboom-pr-1.00/0.85/15.4 xref: SCTID:193824006 {source="DOID:1237"} xref: SCTID:193830006 {source="DOID:1237"} xref: UMLS:C0155118 {source="DOID:1237", source="MONDO:equivalentTo"} -is_a: MONDO:0000942 {source="DOID:1237", source="linkedlife"} ! corneal disease +is_a: MONDO:0000942 {source="DOID:1237", source="linkedlifedata"} ! corneal disease [Term] id: MONDO:0001516 @@ -21231,7 +21447,7 @@ xref: SCTID:193928005 {source="DOID:12397"} xref: SCTID:246821008 {source="DOID:12397"} xref: SCTID:33168009 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:12397", source="MONDO:equivalentTo"} xref: UMLS:C0014390 {source="DOID:12397", source="MONDO:equivalentTo"} -is_a: MONDO:0003382 {source="DOID:12397", source="MESH:D004774", source="linkedlife/inferred"} ! eyelid disease +is_a: MONDO:0003382 {source="DOID:12397", source="MESH:D004774", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! eyelid disease [Term] id: MONDO:0001520 @@ -21387,8 +21603,12 @@ synonym: "malignant vulva tumor" EXACT [NCIT:C7502] synonym: "malignant vulvar neoplasm" EXACT [NCIT:C7502] synonym: "malignant vulvar tumor" EXACT [DOID:1245, NCIT:C7502] synonym: "mammalian vulva cancer" EXACT [MONDO:patterns/location] +synonym: "neoplasm of vulva" EXACT [DOID:1245] synonym: "vulval cancer" EXACT [CSP2005:2016-2183, DOID:1245] +synonym: "vulval neoplasm" EXACT [DOID:1245] synonym: "vulvar cancer" EXACT [MONDO:patterns/location] +synonym: "vulvar neoplasm" EXACT [DOID:1245] +synonym: "Vulvar tumor" EXACT [DOID:1245] xref: DOID:1245 {source="MONDO:equivalentTo"} xref: ICD10:C51 {source="DOID:1245"} xref: ICD10:C51.9 {source="DOID:1245"} @@ -21431,6 +21651,7 @@ is_a: MONDO:0002280 {source="DOID:12450", source="linkedlifedata"} ! anemia (dis id: MONDO:0001530 name: secondary hyperparathyroidism of renal origin synonym: "hyperparathyroidism due to renal insufficiency" EXACT [DOID:12465, SCTID:19034001] +synonym: "secondary hyperparathyroidism" EXACT [DOID:12465] synonym: "secondary hyperparathyroidism (of renal origin)" EXACT [DOID:12465, ICD9CM_2006:588.81] xref: COHD:133810 {source="MONDO:equivalentTo"} xref: DOID:12465 {source="MONDO:equivalentTo"} @@ -21490,7 +21711,7 @@ xref: ICD10:B81.1 {source="DOID:12474"} xref: ICD9:127.5 {source="i2s", source="DOID:12474", source="MONDO:equivalentTo"} xref: SCTID:52979002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12474", source="MONDO:equivalentTo"} xref: UMLS:C0006897 {source="DOID:12474", source="MONDO:equivalentTo"} -is_a: MONDO:0004664 {source="DOID:12474", source="linkedlifedata"} ! helminthiasis +is_a: MONDO:0004664 {source="DOID:12474", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:119095 ! Capillaria @@ -21523,6 +21744,7 @@ synonym: "disorder of vagal nerve" EXACT [DOID:12491, MTHICD9_2006:352.3] synonym: "disorder of vagus nerve" RELATED [MONDO:patterns/location_top] synonym: "disorder of vagus nerve (disorder)" EXACT [DOID:12491, SCTID:73765005] synonym: "vagus nerve disease" EXACT [MONDO:patterns/location] +synonym: "vagus nerve disease or disorder" EXACT [MONDO:design_pattern] synonym: "Vagus nerve disorder" EXACT [DOID:12491, NCIT:C27591] xref: COHD:432307 {source="MONDO:equivalentTo"} xref: DOID:12491 {source="MONDO:equivalentTo"} @@ -21533,7 +21755,7 @@ xref: NCIT:C27591 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12491", xref: SCTID:73765005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12491", source="MONDO:equivalentTo"} xref: UMLS:C0152179 {source="DOID:12491", source="NCIT:C27591", source="MONDO:equivalentTo"} is_a: MONDO:0002639 {source="DOID:12491"} ! glossopharyngeal nerve disease -is_a: MONDO:0003569 {source="MESH:D020421", source="MONDO:Redundant", source="NCIT:C27591", source="linkedlifedata"} ! cranial nerve neuropathy +is_a: MONDO:0003569 {source="DOID:12491/inferred", source="MESH:D020421", source="MONDO:Redundant", source="NCIT:C27591", source="linkedlifedata"} ! cranial nerve neuropathy intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001759 ! vagus nerve @@ -21565,8 +21787,8 @@ xref: ICD9:016.42 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:016.46 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:83652003 {source="MONDO:kboom-pr-1.00/0.80/9.06", source="DOID:1251", source="MONDO:equivalentTo"} xref: UMLS:C0152814 {source="DOID:1251", source="MONDO:equivalentTo"} -is_a: MONDO:0004779 {source="MONDO:Entailed", source="MONDOLEX:0001537", source="OWLReasoner:2017", source="linkedlifedata"} ! epididymitis (disease) -is_a: MONDO:0006002 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! urogenital tuberculosis +is_a: MONDO:0004779 {source="MONDO:Entailed", source="MONDOLEX:0001537", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! epididymitis (disease) +is_a: MONDO:0006002 {source="DOID:1251", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! urogenital tuberculosis intersection_of: MONDO:0018076 ! tuberculosis intersection_of: disease_has_inflammation_site UBERON:0001301 ! epididymis @@ -21574,6 +21796,7 @@ intersection_of: disease_has_inflammation_site UBERON:0001301 ! epididymis id: MONDO:0001538 name: retinal ischemia def: "A ischemic disease that involves the retina." [MONDO:patterns/location] +synonym: "ischemic disease of retina" EXACT [MONDO:design_pattern] synonym: "retina ischemic disease" EXACT [MONDO:patterns/location] xref: COHD:378142 {source="MONDO:equivalentTo"} xref: DOID:12510 {source="MONDO:equivalentTo"} @@ -21650,6 +21873,8 @@ relationship: excluded_subClassOf MONDO:0004797 {source="DOID:12524"} ! mononeur id: MONDO:0001542 name: common peroneal nerve lesion def: "A peripheral nerve lesion that involves the common fibular nerve." [MONDO:patterns/location] +synonym: "common fibular nerve peripheral nerve lesion" EXACT [MONDO:design_pattern] +synonym: "peripheral nerve lesion of common fibular nerve" EXACT [MONDO:design_pattern] xref: COHD:437262 {source="MONDO:equivalentTo"} xref: DOID:12527 {source="MONDO:equivalentTo"} xref: ICD10:G57.3 {source="DOID:12527"} @@ -21667,6 +21892,7 @@ intersection_of: disease_has_location UBERON:0001324 ! common fibular nerve id: MONDO:0001543 name: lesion of sciatic nerve def: "A peripheral nerve lesion that involves the sciatic nerve." [MONDO:patterns/location] +synonym: "peripheral nerve lesion of sciatic nerve" EXACT [MONDO:design_pattern] synonym: "sciatic nerve peripheral nerve lesion" EXACT [MONDO:patterns/location] xref: COHD:372888 {source="MONDO:equivalentTo"} xref: DOID:12528 {source="MONDO:equivalentTo"} @@ -21678,7 +21904,7 @@ xref: SCTID:193144002 {source="DOID:12528"} xref: SCTID:367137004 {source="DOID:12528", source="MONDO:equivalentTo"} xref: SCTID:52585001 {source="DOID:12528", source="MONDO:subClassOf"} xref: UMLS:C0154748 {source="DOID:12528", source="MONDO:equivalentTo"} -is_a: MONDO:0006960 {source="linkedlife"} ! sciatic neuropathy +is_a: MONDO:0006960 {source="linkedlifedata"} ! sciatic neuropathy intersection_of: MONDO:0024334 ! peripheral nerve lesion intersection_of: disease_has_location UBERON:0001322 ! sciatic nerve relationship: excluded_subClassOf MONDO:0004797 {source="DOID:12528"} ! mononeuritis of lower limb @@ -21728,7 +21954,7 @@ xref: ICD9:384.82 {source="DOID:12546", source="i2s", source="MONDO:equivalentTo xref: SCTID:194323000 {source="DOID:12546"} xref: SCTID:72052003 {source="DOID:12546", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155471 {source="DOID:12546", source="MONDO:equivalentTo"} -is_a: MONDO:0003648 {source="DOID:12546", source="linkedlife"} ! tympanic membrane disease +is_a: MONDO:0003648 {source="DOID:12546", source="linkedlifedata"} ! tympanic membrane disease [Term] id: MONDO:0001548 @@ -21773,7 +21999,7 @@ xref: SCTID:111407006 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:125 xref: SCTID:123308008 {source="DOID:12554"} xref: UMLS:C0019061 {source="NCIT:C75545", source="MEDGEN:kboom-pr98-c99", source="DOID:12554", source="MONDO:equivalentTo"} is_a: MONDO:0001531 {source="NCIT:C75545"} ! blood coagulation disease -is_a: MONDO:0003664 {source="DOID:12554", source="ICD10:D59.3/inferred", source="MESH:D006463", source="linkedlifedata"} ! hemolytic anemia +is_a: MONDO:0003664 {source="DOID:12554", source="ICD10:D59.3/inferred", source="MESH:D006463", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemolytic anemia [Term] id: MONDO:0001550 @@ -21797,7 +22023,7 @@ xref: SCTID:68640004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equ xref: SCTID:86533009 {source="DOID:12566"} xref: UMLS:C0156339 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C0156340 {source="DOID:12566"} -is_a: MONDO:0002187 {source="DOID:12566", source="linkedlife"} ! vulvar disease +is_a: MONDO:0002187 {source="DOID:12566", source="linkedlifedata"} ! vulvar disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva intersection_of: disease_has_major_feature HP:0003249 ! Genital ulcers @@ -21845,7 +22071,7 @@ xref: SCTID:392300000 {source="MONDO:kboom-pr-0.90/0.77/0.29", source="MONDO:equ xref: SCTID:84333006 {source="DOID:12571"} xref: UMLS:C0154959 {source="DOID:12571"} xref: UMLS:C0339590 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005041 {source="DOID:12571", source="linkedlifedata"} ! glaucoma (disease) +is_a: MONDO:0005041 {source="DOID:12571", source="linkedlifedata", source="linkedlifedata/inferred"} ! glaucoma (disease) [Term] id: MONDO:0001555 @@ -21876,7 +22102,7 @@ xref: MESH:D014524 {source="MONDO:ontobio", source="MONDO:equivalentTo", source= xref: NCIT:C79804 {source="MONDO:otherHierarchy", source="DOID:12577"} xref: SCTID:95588004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:12577"} xref: UMLS:C0041972 {source="MONDO:equivalentTo", source="DOID:12577"} -is_a: MONDO:0004184 {source="DOID:12577", source="MESH:D014524"} ! urethral disease +is_a: MONDO:0004184 {source="DOID:12577", source="MESH:D014524", source="linkedlifedata"} ! urethral disease [Term] id: MONDO:0001557 @@ -21884,6 +22110,7 @@ name: olecranon bursitis def: "A bursitis that involves the olecranon." [MONDO:patterns/location] synonym: "bursitis of elbow" EXACT [DOID:12581, MTHICD9_2006:726.33] synonym: "bursitis of elbow region" EXACT [DOID:12581, SCTID:239968000] +synonym: "bursitis of olecranon" EXACT [MONDO:design_pattern] synonym: "capped elbow" EXACT [DOID:12581, SCTID:74859007] synonym: "elbow bursitis" EXACT [DOID:12581] synonym: "elbow bursitis (& olecranon)" EXACT [DOID:12581, SCTID:156680002] @@ -21932,7 +22159,7 @@ xref: SCTID:41962002 {source="MONDO:kboom-pr-0.99/0.73/5.34", source="DOID:12594 xref: UMLS:C0178426 {source="DOID:12594", source="MONDO:equivalentTo"} xref: UMLS:C1609433 {source="NCIT:C40435", source="GARD:0004462"} is_a: MONDO:0002254 {source="MONDOLEX:0001558", source="NCIT:C40435"} ! syndromic disease -is_a: MONDO:0005881 {source="DOID:12594", source="linkedlife"} ! oligohydramnios (disease) +is_a: MONDO:0005881 {source="DOID:12594", source="linkedlifedata"} ! oligohydramnios (disease) disjoint_from: MONDO:0015986 {source="DOID:0080200"} ! bilateral renal agenesis [Term] @@ -21977,7 +22204,7 @@ xref: OMIM:612525 {source="DOID:12638", source="MONDO:superClassOf"} xref: OMIMPS:179010 {source="DC:0000381", source="MONDO:equivalentTo"} xref: SCTID:48644003 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:12638", source="MONDO:equivalentTo"} xref: UMLS:C0700639 {source="DOID:12638", source="NCIT:C98952"} -is_a: MONDO:0001561 {source="DC:0000381", source="DOID:12638", source="MESH:D046248", source="MESH:D046248/inferred", source="NCIT:C98952", source="linkedlifedata"} ! pyloric stenosis (disease) +is_a: MONDO:0001561 {source="DC:0000381", source="DOID:12638", source="DOID:12638/inferred", source="MESH:D046248", source="MESH:D046248/inferred", source="NCIT:C98952", source="linkedlifedata", source="linkedlifedata/inferred"} ! pyloric stenosis (disease) is_a: MONDO:0005020 {source="EFO:0004707"} ! intestinal disease [Term] @@ -22002,7 +22229,7 @@ xref: SCTID:244815007 {source="DOID:3122"} xref: SCTID:367403001 {source="DOID:12639", source="MONDO:kboom-pr-0.96/0.68/2.71", source="MONDO:equivalentTo"} xref: UMLS:C0034194 {source="DOID:12639", source="NCIT:C34966"} xref: UMLS:C0162651 {source="DOID:3122"} -is_a: MONDO:0004298 {source="DOID:3122", source="MESH:D011707/inferred", source="MESH:D017219", source="NCIT:C34966/inferred", source="linkedlife", source="linkedlifedata"} ! stomach disease +is_a: MONDO:0004298 {source="DOID:12639/inferred", source="DOID:3122", source="MESH:D011707/inferred", source="MESH:D017219", source="NCIT:C34966/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! stomach disease [Term] id: MONDO:0001562 @@ -22029,18 +22256,19 @@ synonym: "disorder of eighth nerve" RELATED [] synonym: "disorder of the vestibulocochlear nerve" RELATED [] synonym: "disorder of vestibulocochlear nerve" RELATED [MONDO:patterns/location_top] synonym: "vestibulocochlear nerve disease" EXACT [MONDO:patterns/location] +synonym: "vestibulocochlear nerve disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:12657 {source="MONDO:equivalentTo"} xref: ICD10:H93.3 {source="DOID:12657"} xref: ICD10:H93.3X {source="DOID:12657"} -xref: ICD9:388.5 {source="DOID:12657", source="linkedlife"} +xref: ICD9:388.5 {source="DOID:12657", source="linkedlifedata"} xref: MESH:D000160 {source="DOID:12657", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C27207 {source="DOID:12657", source="MONDO:equivalentTo"} xref: SCTID:194402005 {source="DOID:12657"} xref: SCTID:77949003 {source="DOID:12657", source="MONDO:equivalentTo"} xref: UMLS:C0001163 {source="DOID:12657", source="MONDO:equivalentTo"} is_a: MONDO:0002453 {source="DOID:12657", source="MESH:D000160"} ! retrocochlear disease -is_a: MONDO:0003569 {source="DOID:12657", source="MESH:D000160", source="MONDO:Entailed", source="linkedlife"} ! cranial nerve neuropathy -is_a: MONDO:0003620 {source="linkedlife"} ! peripheral nervous system disease +is_a: MONDO:0003569 {source="DOID:12657", source="MESH:D000160", source="MONDO:Entailed", source="NCIT:C27207", source="linkedlifedata"} ! cranial nerve neuropathy +is_a: MONDO:0003620 {source="DOID:12657/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral nervous system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001648 ! vestibulocochlear nerve @@ -22048,17 +22276,16 @@ intersection_of: disease_has_location UBERON:0001648 ! vestibulocochlear nerve id: MONDO:0001564 name: binocular vision disease def: "Any inability to efficiently utilize and/or sustain binocular vision." [NCIT:P378] -synonym: "simultaneous visual perception without fusion" EXACT [DOID:12667] +synonym: "simultaneous visual perception without fusion" NARROW [DOID:12667] xref: DOID:12667 {source="MONDO:equivalentTo"} xref: ICD10:H53.30 {source="DOID:12667"} -xref: ICD9:368.30 {source="DOID:12667"} -xref: ICD9:368.32 {source="i2s", source="MONDO:equivalentTo"} +xref: ICD9:368.30 {source="DOID:12667", source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C34422 {source="DOID:12667", source="MONDO:equivalentTo"} xref: SCTID:193658001 {source="DOID:12667"} -xref: SCTID:83275001 {source="DOID:12667"} -xref: SCTID:8826001 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} +xref: SCTID:83275001 {source="DOID:12667", source="MONDO:equivalentTo"} xref: UMLS:C0005461 {source="DOID:12667"} -is_a: MONDO:0003432 {source="DOID:12667"} ! strabismus +is_a: MONDO:0021084 {source="NCIT:C34422/inferred"} ! vision disorder +relationship: excluded_subClassOf MONDO:0003432 {source="DOID:12667"} ! strabismus [Term] id: MONDO:0001565 @@ -22107,7 +22334,7 @@ xref: SCTID:267505006 {source="DOID:12679"} xref: SCTID:48638002 {source="DOID:12679", source="MONDO:kboom-pr-0.89/0.76/0.19", source="MONDO:equivalentTo"} xref: UMLS:C0027709 {source="DOID:12679", source="NCIT:C84918", source="MONDO:equivalentTo"} is_a: MONDO:0002123 {source="DOID:12679", source="MESH:D009397"} ! calcinosis -is_a: MONDO:0005240 {source="DOID:12679", source="MESH:D009397", source="linkedlifedata"} ! kidney disease +is_a: MONDO:0005240 {source="DOID:12679", source="MESH:D009397", source="NCIT:C84918/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7177/nephrocalcinosis xsd:anyURI {source="GARD:0007177"} [Term] @@ -22121,7 +22348,7 @@ xref: ICD9:315.32 {source="i2s", source="DOID:12685", source="MONDO:equivalentTo xref: NCIT:C92563 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:12685", source="MONDO:equivalentTo"} xref: SCTID:25766007 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:12685", source="MONDO:equivalentTo"} xref: UMLS:C0236827 {source="NCIT:C92563", source="DOID:12685"} -is_a: MONDO:0002182 {source="DOID:12685", source="MONDO:Redundant", source="linkedlifedata"} ! communication disorder +is_a: MONDO:0002182 {source="DOID:12685", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! communication disorder is_a: MONDO:0004750 {source="NCIT:C92563"} ! language disorder [Term] @@ -22174,9 +22401,9 @@ xref: SCTID:198112004 {source="DOID:12698"} xref: SCTID:266646002 {source="DOID:12698"} xref: SCTID:4754008 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo", source="DOID:12698"} xref: UMLS:C0018418 {source="NCIT:C3073", source="MONDO:equivalentTo", source="DOID:12698"} -is_a: MONDO:0001100 ! hypertrophy of breast +is_a: MONDO:0001100 {source="linkedlifedata"} ! hypertrophy of breast is_a: MONDO:0002145 {source="DOID:12698"} ! sex differentiation disease -is_a: MONDO:0002657 {source="MESH:D006177"} ! breast disease +is_a: MONDO:0002657 {source="MESH:D006177", source="NCIT:C3073/inferred", source="linkedlifedata/inferred"} ! breast disease [Term] id: MONDO:0001572 @@ -22201,7 +22428,7 @@ xref: SCTID:189788005 {source="DOID:127"} xref: SCTID:189793008 {source="DOID:127"} xref: SCTID:702978006 {source="DOID:127"} xref: UMLS:C0023267 {source="DOID:127", source="NCIT:C3157", source="MONDO:equivalentTo"} -is_a: MONDO:0005165 {source="DOID:127", source="MONDO:Redundant"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:127", source="DOID:127/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: MONDO:0006106 {source="NCIT:C3157"} ! benign smooth muscle neoplasm [Term] @@ -22215,6 +22442,7 @@ id: MONDO:0001574 name: capillary disease def: "A disease involving a capillary." [MONDO:DesignPattern] synonym: "capillary disease" EXACT [MONDO:patterns/location] +synonym: "capillary disease or disorder" EXACT [MONDO:design_pattern] synonym: "disease of capillaries" EXACT [DOID:1271] synonym: "disease of capillary" EXACT [MONDO:patterns/location_top] synonym: "disorder of capillary" RELATED [MONDO:patterns/location_top] @@ -22281,7 +22509,7 @@ xref: NCIT:C3354 {source="DOID:1273", source="MONDO:equivalentTo"} xref: SCTID:186750007 {source="DOID:1273"} xref: SCTID:55735004 {source="DOID:1273", source="MONDO:equivalentTo"} xref: UMLS:C0035235 {source="NCIT:C3354", source="DOID:1273", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="DOID:1273", source="MONDO:Redundant", source="NCIT:C3354/inferred"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:1273", source="MESH:D018357/inferred", source="MONDO:Redundant", source="NCIT:C3354/inferred", source="linkedlifedata/inferred"} ! viral infectious disease is_a: MONDO:0024352 {source="NCIT:C3354"} ! viral respiratory tract infection intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:11250 ! Human respiratory syncytial virus @@ -22306,7 +22534,7 @@ xref: ICD9:371.73 {source="i2s", source="MONDO:equivalentTo", source="DOID:12753 xref: SCTID:193849005 {source="DOID:12753"} xref: SCTID:52476003 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo", source="DOID:12753"} xref: UMLS:C0152440 {source="MONDO:equivalentTo", source="DOID:12753"} -is_a: MONDO:0000942 {source="DOID:12753", source="linkedlife/inferred"} ! corneal disease +is_a: MONDO:0000942 {source="DOID:12753", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease [Term] id: MONDO:0001580 @@ -22330,8 +22558,8 @@ xref: SCTID:188274004 {source="DOID:12756", source="MONDO:kboom-pr-1.00/0.79/8.4 xref: SCTID:188275003 {source="DOID:12756"} xref: SCTID:93852003 {source="DOID:12756"} xref: UMLS:C0153631 {source="DOID:12756", source="NCIT:C3567", source="MONDO:equivalentTo"} -is_a: MONDO:0001854 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! lacrimal apparatus disease -is_a: MONDO:0002460 {source="DOID:12756", source="NCIT:C3567", source="linkedlifedata"} ! lacrimal system cancer +is_a: MONDO:0001854 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease +is_a: MONDO:0002460 {source="DOID:12756", source="NCIT:C3567", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal system cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001850 ! lacrimal drainage system @@ -22367,7 +22595,7 @@ xref: SCTID:193182005 {source="DOID:12785"} xref: SCTID:49455004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12785", source="MONDO:equivalentTo"} xref: UMLS:C0271680 {source="DOID:12785", source="MONDO:equivalentTo"} is_a: MONDO:0005016 ! diabetic nephropathy -is_a: MONDO:0006626 {source="DOID:12785", source="linkedlife", source="linkedlifedata"} ! diabetic neuropathy +is_a: MONDO:0006626 {source="DOID:12785", source="linkedlifedata", source="linkedlifedata/inferred"} ! diabetic neuropathy property_value: confidence "0.3333333333333335" xsd:double [Term] @@ -22393,7 +22621,7 @@ xref: ICD10:F16.1 {source="DOID:12797"} xref: ICD9:305.3 {source="DOID:12797"} xref: SCTID:74851005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:12797"} xref: UMLS:C0018526 {source="DOID:12797"} -is_a: MONDO:0002491 {source="DOID:12797", source="linkedlifedata"} ! substance abuse +is_a: MONDO:0002491 {source="DOID:12797", source="linkedlifedata", source="linkedlifedata/inferred"} ! substance abuse [Term] id: MONDO:0001586 @@ -22438,7 +22666,7 @@ xref: SCTID:75610003 {source="DOID:12802", source="MONDO:equivalentTo"} xref: UMLS:C0023786 {source="ORDO:579/e", source="DOID:12802", source="Orphanet:579"} xref: UMLS:C2713321 {source="ORDO:579/e", source="Orphanet:579"} is_a: MONDO:0019058 {source="Orphanet:579"} ! neurometabolic disease -is_a: MONDO:0019249 {source="DOID:12802", source="Orphanet:579"} ! mucopolysaccharidosis +is_a: MONDO:0019249 {source="DOID:12802", source="NCIT:C85053", source="Orphanet:579", source="linkedlifedata"} ! mucopolysaccharidosis is_a: MONDO:0019706 {source="Orphanet:579"} ! lysosomal storage disease with skeletal involvement is_a: MONDO:0020186 {source="Orphanet:579"} ! eyebrow hypertrophy is_a: MONDO:0020279 {source="Orphanet:579"} ! metabolic disease with corneal opacity @@ -22467,7 +22695,8 @@ relationship: disease_has_location UBERON:0001817 ! lacrimal gland [Term] id: MONDO:0001589 name: vaginal enterocele -def: "Protrusion of tissue, structure, or part of an organ through the bone, muscular tissue, or the membrane by which it is normally contained. Hernia may involve tissues such as the abdominal wall or the respiratory diaphragm. Hernias may be internal, external, congenital, or acquired." [MESH:D006547] +synonym: "enterocele" BROAD [DOID:1283] +synonym: "vaginal hernia" RELATED [] xref: COHD:4162218 {source="MONDO:equivalentTo"} xref: DOID:1283 {source="MONDO:equivalentTo"} xref: ICD10:K46 {source="DOID:1283"} @@ -22481,7 +22710,10 @@ xref: SCTID:398061002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:128 xref: SCTID:47671001 {source="DOID:1283"} xref: UMLS:C0205792 {source="DOID:1283"} is_a: MONDO:0001592 {source="DOID:1283"} ! prolapse of female genital organ -is_a: MONDO:0001593 {source="DOID:1283"} ! rectal disease +is_a: MONDO:0024583 ! hernia +relationship: disease_has_location UBERON:0000996 ! vagina +relationship: disease_has_location UBERON:0002108 ! small intestine +relationship: excluded_subClassOf MONDO:0001593 {source="DOID:1283"} ! rectal disease [Term] id: MONDO:0001590 @@ -22534,12 +22766,13 @@ synonym: "disease of rectum" EXACT [MONDO:patterns/location_top] synonym: "disorder of rectum" EXACT [MONDO:patterns/location_top] synonym: "rectal disorder" RELATED [] synonym: "rectum disease" EXACT [MONDO:patterns/location] +synonym: "rectum disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:1285 {source="MONDO:equivalentTo"} xref: ICD9:569.49 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D012002 {source="DOID:1285", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:5964004 {source="DOID:1285", source="MONDO:equivalentTo"} xref: UMLS:C0034882 {source="DOID:1285", source="MONDO:equivalentTo"} -is_a: MONDO:0005020 {source="DOID:1285", source="MESH:D012002", source="MONDO:Entailed", source="linkedlife/inferred"} ! intestinal disease +is_a: MONDO:0005020 {source="DOID:1285", source="MESH:D012002", source="MONDO:Entailed", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! intestinal disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001052 ! rectum @@ -22608,6 +22841,7 @@ def: "A disease involving the submandibular gland." [MONDO:DesignPattern] synonym: "disease of submandibular gland" EXACT [MONDO:patterns/location_top] synonym: "disorder of submandibular gland" RELATED [MONDO:patterns/location_top] synonym: "submandibular gland disease" EXACT [MONDO:patterns/location] +synonym: "submandibular gland disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:12897 {source="MONDO:equivalentTo"} xref: MESH:D013364 {source="MONDO:ontobio", source="DOID:12897", source="MONDO:equivalentTo"} xref: UMLS:C0038557 {source="DOID:12897", source="MONDO:equivalentTo"} @@ -22630,7 +22864,7 @@ xref: ICD9:527.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3949 {source="DOID:12899", source="MONDO:equivalentTo"} xref: SCTID:45517002 {source="DOID:12899", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0266995 {source="DOID:12899", source="MONDO:equivalentTo", source="NCIT:C3949"} -is_a: MONDO:0001142 {source="DOID:12899", source="NCIT:C3949", source="linkedlife", source="linkedlifedata"} ! salivary gland disease +is_a: MONDO:0001142 {source="DOID:12899", source="NCIT:C3949", source="linkedlifedata", source="linkedlifedata/inferred"} ! salivary gland disease is_a: MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C3949"} ! autoimmune disease [Term] @@ -22724,13 +22958,6 @@ xref: SCTID:60735000 {source="DOID:12959", source="MONDO:equivalentTo"} xref: UMLS:C0152226 {source="DOID:12959", source="MONDO:equivalentTo"} is_a: MONDO:0003382 {source="DOID:12959"} ! eyelid disease -[Term] -id: MONDO:0001605 -name: subleukemic leukemia -def: "A leukemia that is characterized by the presence of abnormal white blood cells located_in peripheral blood, but in which the total number of white blood cells is normal." [DOID:12965, http://medical-dictionary.thefreedictionary.com/subleukemic+leukemia] -xref: DOID:12965 {source="MONDO:equivalentTo"} -is_a: MONDO:0005059 {source="DOID:12965"} ! leukemia (disease) - [Term] id: MONDO:0001606 name: central nervous system leukemia @@ -22762,7 +22989,7 @@ xref: ICD9:202.46 {source="DOID:12972"} xref: SCTID:188650008 {source="DOID:12972"} xref: SCTID:93145002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:12972", source="MONDO:equivalentTo"} xref: UMLS:C0153831 {source="DOID:12972", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0001082 {source="DOID:12972", source="linkedlifedata"} ! lymph node cancer +is_a: MONDO:0001082 {source="DOID:12972", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymph node cancer is_a: MONDO:0018935 {source="DOID:12972", source="linkedlifedata"} ! hairy cell leukemia [Term] @@ -22798,7 +23025,7 @@ xref: NCIT:C5831 {source="exact-label-match", source="MONDO:equivalentTo", sourc xref: SCTID:126976007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:12984"} xref: UMLS:C1263901 {source="NCIT:C5831", source="MONDO:equivalentTo", source="DOID:12984"} is_a: MONDO:0001535 {source="MONDO:Entailed", source="NCIT:C5831", source="OWLReasoner:2017", source="linkedlifedata"} ! vagus nerve disease -is_a: MONDO:0002633 {source="MONDO:Redundant", source="NCIT:C5831", source="linkedlifedata"} ! cranial nerve neoplasm +is_a: MONDO:0002633 {source="DOID:12984", source="MONDO:Redundant", source="NCIT:C5831", source="linkedlifedata"} ! cranial nerve neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001759 ! vagus nerve @@ -22825,7 +23052,7 @@ xref: SCTID:310589001 {source="DOID:12987"} xref: SCTID:417672002 {source="DOID:12987", source="MONDO:kboom-pr-0.92/0.83/0.20", source="MONDO:equivalentTo"} xref: SCTID:72885007 {source="DOID:12987"} xref: UMLS:C0001824 {source="DOID:12987", source="MONDO:equivalentTo"} -is_a: MONDO:0003785 {source="DOID:12987", source="MESH:D000380", source="linkedlifedata"} ! leukopenia +is_a: MONDO:0003785 {source="DOID:12987", source="MESH:D000380", source="NCIT:C2863", source="linkedlifedata"} ! leukopenia [Term] id: MONDO:0001610 @@ -22869,7 +23096,7 @@ xref: NCIT:C95804 {source="MONDO:kboom-pr-0.75/0.38/0.63", source="DOID:13001", xref: SCTID:195181000 {source="DOID:13001"} xref: SCTID:64586002 {source="DOID:13001", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0007282 {source="DOID:13001", source="NCIT:C95804", source="MONDO:equivalentTo"} -is_a: MONDO:0005269 {source="DOID:13001", source="MESH:D016893", source="NCIT:C95804", source="linkedlifedata"} ! carotid artery disease +is_a: MONDO:0005269 {source="DOID:13001", source="MESH:D016893", source="NCIT:C95804", source="linkedlifedata", source="linkedlifedata/inferred"} ! carotid artery disease [Term] id: MONDO:0001613 @@ -22905,7 +23132,7 @@ xref: DOID:13005 {source="MONDO:equivalentTo"} xref: ICD9:202.63 {source="DOID:13005"} xref: SCTID:188664008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13005", source="MONDO:equivalentTo"} xref: UMLS:C0153844 {source="DOID:13005", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0001082 {source="DOID:13005", source="linkedlifedata"} ! lymph node cancer +is_a: MONDO:0001082 {source="DOID:13005", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymph node cancer [Term] id: MONDO:0001615 @@ -23039,7 +23266,7 @@ xref: ICD9:374.22 {source="i2s", source="DOID:13037", source="MONDO:equivalentTo xref: SCTID:193939008 {source="DOID:13037"} xref: SCTID:21783006 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:13037", source="MONDO:equivalentTo"} xref: UMLS:C0155198 {source="DOID:13037", source="MONDO:equivalentTo"} -is_a: MONDO:0001604 {source="DOID:13037"} ! lagophthalmos +is_a: MONDO:0001604 {source="DOID:13037", source="linkedlifedata"} ! lagophthalmos [Term] id: MONDO:0001623 @@ -23059,6 +23286,7 @@ is_a: MONDO:0001604 {source="DOID:13038"} ! lagophthalmos id: MONDO:0001624 name: acute sphenoidal sinusitis def: "Acute form of sphenoid sinusitis." [MONDO:patterns/acute] +synonym: "acute sphenoid sinusitis" EXACT [MONDO:design_pattern] synonym: "sphenoid sinusitis, acute" EXACT [MONDO:patterns/acute] synonym: "sphenoidal sinus -acute" EXACT [DOID:13046, SCTID:266378004] xref: COHD:137900 {source="MONDO:equivalentTo"} @@ -23085,7 +23313,7 @@ xref: ICD10:N83.1 {source="MONDO:equivalentTo"} xref: ICD9:620.1 {source="DOID:13050", source="i2s", source="MONDO:relatedTo"} xref: SCTID:386762009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0156361 {source="DOID:13050"} -is_a: MONDO:0003282 {source="DOID:13050", source="MONDO:Entailed", source="linkedlifedata"} ! ovarian cyst (disease) +is_a: MONDO:0003282 {source="DOID:13050", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! ovarian cyst (disease) intersection_of: MONDO:0003282 ! ovarian cyst (disease) intersection_of: disease_has_location UBERON:0002512 ! corpus luteum @@ -23098,7 +23326,7 @@ xref: DOID:13060 {source="MONDO:equivalentTo"} xref: ICD9:365.65 {source="DOID:13060", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:68241007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13060", source="MONDO:equivalentTo"} xref: UMLS:C0339594 {source="DOID:13060", source="MONDO:equivalentTo"} -is_a: MONDO:0005041 {source="DOID:13060", source="linkedlifedata"} ! glaucoma (disease) +is_a: MONDO:0005041 {source="DOID:13060", source="linkedlifedata", source="linkedlifedata/inferred"} ! glaucoma (disease) [Term] id: MONDO:0001627 @@ -23195,6 +23423,7 @@ is_a: MONDO:0006948 {source="DOID:13094", source="NCIT:C34436", source="linkedli id: MONDO:0001631 name: vertebral artery insufficiency def: "A syndrome which occurs as a result of the occlusion of one of the vertebral arteries. It may be caused by atherosclerosis, embolism or hemorrhage. Collateral circulation through the circle of Willis is usually comprised as well. Clinical signs may include vertigo, nystagmus, dysarthria, ataxia and sensorimotor deficits. Clinical course may lead to persistence of neurologic deficits. Prognosis is variable with a substantial risk for recurrent infarction." [NCIT:C35123] +synonym: "syndromic disease of vertebral artery" EXACT [MONDO:design_pattern] synonym: "vertebral artery syndrome" EXACT [DOID:13095, ICD9CM_2006:435.1, NCIT:C35123, SCTID:195198000] synonym: "vertebral artery syndrome (disorder)" EXACT [DOID:13095, SCTID:34781003] synonym: "vertebral artery syndromic disease" EXACT [MONDO:patterns/location] @@ -23363,7 +23592,7 @@ xref: SCTID:193912000 {source="DOID:13134"} xref: SCTID:193913005 {source="DOID:13134"} xref: SCTID:61523007 {source="DOID:13134"} xref: UMLS:C0019919 {source="DOID:13134", source="MONDO:equivalentTo"} -is_a: MONDO:0005800 {source="MONDO:cjm", source="MONDOLEX:0001642", source="linkedlife"} ! hordeolum +is_a: MONDO:0005800 {source="MONDO:cjm", source="MONDOLEX:0001642", source="linkedlifedata"} ! hordeolum relationship: excluded_subClassOf MONDO:0004785 {source="DOID:13134", source="linkedlifedata"} ! blepharitis [Term] @@ -23390,7 +23619,7 @@ xref: NCIT:C35443 {source="MONDO:kboom-pr-0.93/0.85/0.08", source="MONDO:equival xref: SCTID:197579006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:13138"} xref: UMLS:C0341692 {source="MONDO:equivalentTo", source="DOID:13138"} xref: UMLS:C0403414 {source="MONDO:directSiblingOf", source="NCIT:C35443"} -is_a: MONDO:0002462 {source="MONDO:0001644/inferred", source="MONDO:Redundant", source="MONDOLEX:0001644/inferred", source="NCIT:C35443", source="linkedlifedata"} ! glomerulonephritis (disease) +is_a: MONDO:0002462 {source="DOID:13138", source="MONDO:0001644/inferred", source="MONDO:Redundant", source="MONDOLEX:0001644/inferred", source="NCIT:C35443", source="linkedlifedata", source="linkedlifedata/inferred"} ! glomerulonephritis (disease) is_a: MONDO:0003134 {source="MONDO:Entailed", source="MONDOLEX:0001644", source="OWLReasoner:2017", source="linkedlifedata"} ! proliferative glomerulonephritis intersection_of: MONDO:0003134 ! proliferative glomerulonephritis intersection_of: has_modifier PATO:0000389 ! acute @@ -23408,7 +23637,7 @@ xref: SCTID:236398000 {source="MONDO:kboom-pr-0.79/0.41/0.83", source="DOID:1313 xref: SCTID:45406000 {source="DOID:13139"} xref: UMLS:C0403416 {source="NCIT:C35444", source="DOID:13139"} is_a: MONDO:0001644 {source="DOID:13139", source="linkedlifedata"} ! acute proliferative glomerulonephritis -is_a: MONDO:0002462 {source="MONDO:Redundant", source="NCIT:C35444", source="linkedlifedata"} ! glomerulonephritis (disease) +is_a: MONDO:0002462 {source="DOID:13139/inferred", source="MONDO:Redundant", source="NCIT:C35444", source="linkedlifedata", source="linkedlifedata/inferred"} ! glomerulonephritis (disease) [Term] id: MONDO:0001646 @@ -23506,7 +23735,7 @@ xref: NCIT:C4643 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:13159", xref: SCTID:276860003 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:13159", source="MONDO:equivalentTo"} xref: UMLS:C0349551 {source="NCIT:C4643", source="DOID:13159", source="MONDO:equivalentTo"} is_a: MONDO:0002650 {source="DOID:13159", source="MONDO:Entailed", source="MONDOLEX:0001651", source="NCIT:C4643"} ! scrotal carcinoma -is_a: MONDO:0005096 {source="DOID:13159", source="MONDO:Entailed", source="MONDOLEX:0001651", source="NCIT:C4643", source="linkedlifedata"} ! squamous cell carcinoma +is_a: MONDO:0005096 {source="DOID:13159", source="MONDO:Entailed", source="MONDOLEX:0001651", source="NCIT:C4643", source="linkedlifedata", source="linkedlifedata/inferred"} ! squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0001300 ! scrotum @@ -23521,7 +23750,7 @@ synonym: "scrotum melanoma (disease)" EXACT [MONDO:patterns/location] xref: DOID:13160 {source="MONDO:equivalentTo"} xref: NCIT:C7361 {source="DOID:13160", source="MONDO:kboom-pr-1.00/0.91/26.63", source="MONDO:equivalentTo"} xref: UMLS:C1331544 {source="NCIT:C7361", source="DOID:13160", source="MONDO:equivalentTo"} -is_a: MONDO:0003319 {source="MONDO:Entailed", source="NCIT:C7361/inferred", source="OWLReasoner:Elk-2018-01-05"} ! scrotum neoplasm +is_a: MONDO:0003319 {source="DOID:13160", source="MONDO:Entailed", source="NCIT:C7361/inferred", source="OWLReasoner:Elk-2018-01-05"} ! scrotum neoplasm is_a: MONDO:0005105 {source="DOID:13160", source="MONDO:Entailed", source="NCIT:C7361/inferred"} ! melanoma (disease) intersection_of: MONDO:0005105 ! melanoma (disease) intersection_of: disease_has_location UBERON:0001300 ! scrotum @@ -23543,7 +23772,7 @@ xref: ICD9:187.1 {source="DOID:13168", source="i2s", source="MONDO:equivalentTo" xref: SCTID:363450006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13168", source="MONDO:equivalentTo"} xref: SCTID:93805009 {source="DOID:13168"} xref: UMLS:C0153598 {source="DOID:13168", source="MONDO:equivalentTo"} -is_a: MONDO:0002898 {source="DOID:13168", source="linkedlifedata"} ! skin cancer +is_a: MONDO:0002898 {source="DOID:13168", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0011374 ! prepuce @@ -23596,7 +23825,7 @@ xref: MESH:D004931 {source="DOID:13186"} xref: NCIT:C34811 {source="DOID:13186", source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} xref: SCTID:70667005 {source="DOID:13186", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0025164 {source="DOID:13186", source="MONDO:equivalentTo", source="NCIT:C34811"} -is_a: MONDO:0003749 {source="DOID:13186"} ! esophageal disease +is_a: MONDO:0003749 {source="DOID:13186", source="NCIT:C34811/inferred", source="linkedlifedata/inferred"} ! esophageal disease [Term] id: MONDO:0001657 @@ -23622,6 +23851,7 @@ synonym: "malignant primary brain tumor" NARROW [DOID:1319] synonym: "malignant tumor of adult brain" NARROW [DOID:1319, NCIT:C5115] synonym: "malignant tumor of brain" EXACT [DOID:1319, NCIT:C3568] synonym: "malignant tumor of the brain" EXACT [NCIT:C3568] +synonym: "neoplasm of brain" EXACT [DOID:1319] synonym: "neoplasm of brain (disorder)" BROAD [DOID:1319, SCTID:126952004] synonym: "neoplasm of unspecified nature of brain" RELATED [DOID:1319, ICD9CM_2006:239.6] synonym: "neoplasm of unspecified nature of brain (disorder)" RELATED [DOID:1319, SCTID:189537005] @@ -23663,8 +23893,8 @@ xref: UMLS:C0220624 {source="DOID:1319"} xref: UMLS:C0750974 {source="DOID:1319"} xref: UMLS:C0750979 {source="DOID:1319"} xref: UMLS:C1334557 {source="DOID:1319"} -is_a: MONDO:0002714 {source="DOID:1319", source="MESH:D001932", source="MONDO:Entailed", source="NCIT:C3568/inferred", source="linkedlifedata"} ! central nervous system cancer -is_a: MONDO:0005560 {source="DOID:1319", source="MESH:D001932", source="MONDO:Redundant", source="linkedlifedata"} ! brain disease +is_a: MONDO:0002714 {source="DOID:1319", source="MESH:D001932", source="MONDO:Entailed", source="NCIT:C3568/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! central nervous system cancer +is_a: MONDO:0005560 {source="DOID:1319", source="MESH:D001932", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease is_a: MONDO:0021211 {source="MONDO:Entailed", source="NCIT:C3568", source="OWLReasoner:Elk-2018-01-09"} ! brain neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000955 ! brain @@ -23707,7 +23937,7 @@ xref: NCIT:C84457 {source="DOID:13207", source="MONDO:kboom-pr-1.00/0.93/31.20", xref: SCTID:154679002 {source="DOID:13207"} xref: SCTID:59276001 {source="DOID:13207", source="MONDO:kboom-pr-0.94/0.83/0.91", source="MONDO:equivalentTo"} xref: UMLS:C0154830 {source="DOID:13207", source="NCIT:C84457", source="MONDO:equivalentTo"} -is_a: MONDO:0005266 {source="DOID:13207", source="NCIT:C84457", source="linkedlifedata"} ! diabetic retinopathy +is_a: MONDO:0005266 {source="DOID:13207", source="NCIT:C84457", source="linkedlifedata", source="linkedlifedata/inferred"} ! diabetic retinopathy [Term] id: MONDO:0001661 @@ -23781,7 +24011,7 @@ xref: ICD10:A21.1 {source="MONDO:equivalentTo", source="DOID:13226"} xref: ICD9:021.3 {source="i2s", source="MONDO:equivalentTo", source="DOID:13226"} xref: SCTID:73363000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:13226"} xref: UMLS:C0152944 {source="MONDO:equivalentTo", source="DOID:13226"} -is_a: MONDO:0018077 {source="DOID:13226", source="ICD10:A21.1", source="linkedlifedata"} ! tularemia +is_a: MONDO:0018077 {source="DOID:13226", source="ICD10:A21.1", source="linkedlifedata", source="linkedlifedata/inferred"} ! tularemia [Term] id: MONDO:0001666 @@ -23792,7 +24022,7 @@ synonym: "retinal dystrophies primarily involving Bruch membrane" EXACT [DOID:13 xref: DOID:13227 {source="MONDO:equivalentTo"} xref: ICD9:362.77 {source="DOID:13227", source="MONDO:equivalentTo"} xref: UMLS:C0154866 {source="DOID:13227"} -intersection_of: MONDO:0019118 ! genetic retinal dystrophy +intersection_of: MONDO:0019118 ! inherited retinal dystrophy intersection_of: disease_has_location UBERON:0003957 ! Bruch's membrane [Term] @@ -23802,17 +24032,25 @@ synonym: "infection caused by streptobacillus" EXACT [SCTID:721738002] synonym: "streptobacillus infection" RELATED [SCTID:721738002] xref: SCTID:721738002 {source="MONDO:equivalentTo"} xref: UMLS:C0947939 {source="MONDO:equivalentTo"} -is_a: MONDO:0021678 {source="MONDO:cjm", source="linkedlife"} ! gram-negative bacterial infections +is_a: MONDO:0021678 {source="MONDO:cjm", source="linkedlifedata"} ! gram-negative bacterial infections intersection_of: MONDO:0000314 ! primary bacterial infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:34104 ! Streptobacillus [Term] id: MONDO:0001668 -name: internal pathological resorption +name: internal pathological resorption of tooth +synonym: "internal granuloma of pulp" RELATED [] +synonym: "internal pathologic resorption" EXACT [] +synonym: "internal resorption of crown of tooth" RELATED [] +synonym: "internal resorption of tooth" EXACT [] +synonym: "pathological tooth resorption - internal" RELATED [] +synonym: "pink spot lesion of tooth" RELATED [] +synonym: "pink tooth of mummery" RELATED [] xref: DOID:13239 {source="MONDO:equivalentTo"} xref: ICD9:521.41 {source="DOID:13239"} +xref: SCTID:52994003 {source="MONDO:equivalentTo"} xref: UMLS:C1456167 {source="DOID:13239"} -is_a: MONDO:0001670 {source="DOID:13239"} ! tooth resorption +is_a: MONDO:0001670 {source="DOID:13239", source="linkedlifedata"} ! tooth resorption [Term] id: MONDO:0001669 @@ -23831,7 +24069,7 @@ xref: MESH:D014091 {source="MONDO:ontobio", source="DOID:13240", source="MONDO:e xref: SCTID:196316003 {source="DOID:13240"} xref: SCTID:70931000 {source="DOID:13240", source="MONDO:equivalentTo"} xref: UMLS:C0040451 {source="DOID:13240", source="MONDO:equivalentTo"} -is_a: MONDO:0002220 {source="DOID:13240"} ! teeth hard tissue disease +is_a: MONDO:0002220 {source="DOID:13240"} ! tooth hard tissue disease [Term] id: MONDO:0001671 @@ -23844,7 +24082,7 @@ xref: ICD9:543.9 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3241 {source="MONDO:otherHierarchy", source="MONDO:Finding", source="MONDO:equivalentTo", source="DOID:13248"} xref: SCTID:53773002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:13248"} xref: UMLS:C0026684 {source="MONDO:equivalentTo", source="DOID:13248", source="NCIT:C3241"} -is_a: MONDO:0005020 {source="DOID:13248", source="linkedlifedata"} ! intestinal disease +is_a: MONDO:0005020 {source="DOID:13248", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal disease [Term] id: MONDO:0001672 @@ -23869,7 +24107,7 @@ xref: SCTID:190092003 {source="DOID:1325"} xref: SCTID:269465004 {source="DOID:1325"} xref: SCTID:363493006 {source="MONDO:kboom-pr-0.77/0.38/0.76", source="MONDO:equivalentTo"} xref: UMLS:C0348343 {source="DOID:1325"} -is_a: MONDO:0000376 {source="DOID:1325", source="MONDO:Entailed", source="linkedlifedata"} ! respiratory system cancer +is_a: MONDO:0000376 {source="DOID:1325", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system cancer is_a: MONDO:0002807 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-10", source="linkedlifedata"} ! bronchial neoplasm (disease) intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002185 ! bronchus @@ -23900,7 +24138,7 @@ xref: SCTID:236076004 {source="DOID:13250"} xref: SCTID:266173000 {source="DOID:13250"} xref: SCTID:266180003 {source="DOID:13250"} xref: UMLS:C0013369 {source="DOID:13250", source="MONDO:relatedTo"} -is_a: MONDO:0004335 {source="DOID:13250"} ! digestive system disease +is_a: MONDO:0004335 {source="DOID:13250", source="linkedlifedata/inferred"} ! digestive system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_major_feature HP:0002014 ! Diarrhea relationship: disease_causes_feature HP:0001944 ! Dehydration @@ -23920,8 +24158,8 @@ xref: MESH:D004239 {source="DOID:13254", source="MONDO:equivalentTo"} xref: SCTID:111359004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0012814 {source="MONDO:equivalentTo"} xref: UMLS:C0156168 {source="DOID:13254"} -is_a: MONDO:0003409 {source="DOID:13254", source="MESH:D004239/inferred", source="MONDO:Entailed", source="linkedlifedata"} ! colonic disease -is_a: MONDO:0004235 {source="DOID:13254", source="MONDO:Entailed", source="linkedlifedata"} ! diverticulitis +is_a: MONDO:0003409 {source="DOID:13254", source="MESH:D004239/inferred", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! colonic disease +is_a: MONDO:0004235 {source="DOID:13254", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! diverticulitis intersection_of: MONDO:0004235 ! diverticulitis intersection_of: disease_has_location UBERON:0001155 ! colon @@ -23935,6 +24173,7 @@ replaced_by: MONDO:0019142 id: MONDO:0001676 name: erythropoietic protoporphyria def: "A rare congenital metabolic disorder characterized by an inborn error of porphyrin-heme biosynthesis. It is caused by deficiency of the enzyme ferrochelatase. Signs and symptoms include painful cutaneous photosensitivity leading to blistering and scarring of the exposed skin areas, erythrodontia, red discoloration of urine, hemolytic anemia, and splenomegaly." [NCIT:P378] +synonym: "EPP" EXACT [DOID:13270] synonym: "EPP (erythropoietic protoporphyria porphyria)" EXACT [CSP2005:1849-7560, DOID:13270] synonym: "erythropoietic protoporphyria (disorder)" EXACT [DOID:13270, SCTID:51022005] synonym: "protoporphyria" EXACT [DOID:13270, MTHICD9_2006:277.1] @@ -23948,7 +24187,7 @@ xref: OMIMPS:177000 {source="MONDO:equivalentTo"} xref: Orphanet:79278 {source="DOID:13270", source="MONDO:subClassOf", source="MONDO:superClassOf"} xref: SCTID:51022005 {source="DOID:13270", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.82/0.62/0.09"} xref: UMLS:C0162568 {source="DOID:13270"} -is_a: MONDO:0002520 {source="DOID:13270"} ! acute hepatic porphyria +is_a: MONDO:0002520 {source="DOID:13270", source="MESH:D046351"} ! acute hepatic porphyria property_value: confidence "0.045454545454545414" xsd:double [Term] @@ -24013,7 +24252,7 @@ xref: ICD9:032.84 {source="DOID:13306", source="i2s", source="MONDO:equivalentTo xref: SCTID:197847008 {source="DOID:13306"} xref: SCTID:48278001 {source="DOID:13306", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0152954 {source="DOID:13306", source="MONDO:equivalentTo"} -is_a: MONDO:0006032 {source="DOID:13306", source="linkedlifedata"} ! cystitis +is_a: MONDO:0006032 {source="DOID:13306", source="linkedlifedata", source="linkedlifedata/inferred"} ! cystitis [Term] id: MONDO:0001682 @@ -24050,7 +24289,7 @@ xref: MESH:D010188 {source="DOID:13316", source="MONDO:ontobio", source="MONDO:e xref: NCIT:C84316 {source="DOID:13316", source="MONDO:equivalentTo"} xref: SCTID:47367009 {source="DOID:13316", source="MONDO:kboom-pr-0.95/0.76/1.96", source="MONDO:equivalentTo"} xref: UMLS:C0267963 {source="DOID:13316", source="NCIT:C84316", source="MONDO:equivalentTo"} -is_a: MONDO:0002356 {source="DOID:13316", source="NCIT:C84316/inferred"} ! pancreas disease +is_a: MONDO:0002356 {source="DOID:13316", source="MESH:D010188", source="NCIT:C84316/inferred", source="linkedlifedata/inferred"} ! pancreas disease relationship: disease_has_location UBERON:0000017 ! exocrine pancreas [Term] @@ -24086,7 +24325,7 @@ xref: SCTID:267471001 {source="DOID:13328"} xref: SCTID:267722005 {source="DOID:13328"} xref: SCTID:43959009 {source="DOID:13328", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0011876 {source="DOID:13328", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID:13328", source="linkedlifedata"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID:13328", source="linkedlifedata", source="linkedlifedata/inferred"} ! cataract (disease) [Term] id: MONDO:0001688 @@ -24240,6 +24479,7 @@ id: MONDO:0001699 name: tinea manuum def: "A dermatophytosis that involves the hands." [MONDO:patterns/location] synonym: "dermatophytosis of hand" EXACT [DOID:13369, ICD9CM_2006:110.2] +synonym: "dermatophytosis of manus" EXACT [MONDO:design_pattern] synonym: "manus dermatophytosis" EXACT [MONDO:patterns/location] synonym: "Tinea manus" EXACT [DOID:13369, SCTID:48971001] xref: COHD:80946 {source="MONDO:equivalentTo"} @@ -24296,7 +24536,7 @@ xref: MESH:C571911 {source="MONDO:ontobio", source="DOID:13386", source="MONDO:e xref: SCTID:111798006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13386", source="MONDO:equivalentTo"} xref: SCTID:186302005 {source="DOID:13386"} xref: UMLS:C0152945 {source="DOID:13386", source="MONDO:equivalentTo"} -is_a: MONDO:0005119 {source="DOID:13386", source="MESH:C571911"} ! anthrax infection +is_a: MONDO:0005119 {source="DOID:13386", source="MESH:C571911", source="linkedlifedata"} ! anthrax infection intersection_of: MONDO:0005119 ! anthrax infection intersection_of: disease_has_location UBERON:0001007 ! digestive system relationship: realized_in_response_to_stimulus NCBITaxon:1392 ! Bacillus anthracis @@ -24345,8 +24585,8 @@ xref: SCTID:53481002 {source="DOID:13399"} xref: UMLS:C0009398 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:C0242225 {source="NCIT:C3891", source="DOID:13399", source="MONDO:equivalentTo"} xref: UMLS:CN207064 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0001941 {source="NCIT:C3891"} ! blindness (disorder) -is_a: MONDO:0021084 {source="MONDO:Redundant", source="MONDO:cjm", source="NCIT:C3891/inferred", source="linkedlife/inferred"} ! vision disorder +is_a: MONDO:0001941 {source="DOID:13399", source="NCIT:C3891"} ! blindness (disorder) +is_a: MONDO:0021084 {source="MONDO:Redundant", source="MONDO:cjm", source="NCIT:C3891/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! vision disorder relationship: disease_has_basis_in_dysfunction_of CL:0000573 ! retinal cone cell relationship: excluded_subClassOf MONDO:0001941 {source="NCIT:C3891"} ! blindness (disorder) @@ -24383,8 +24623,8 @@ xref: SCTID:191252000 {source="DOID:1340"} xref: SCTID:191253005 {source="DOID:1340"} xref: SCTID:50715003 {source="DOID:1340", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0034902 {source="DOID:1340", source="MEDGEN:kboom-pr98-c99", source="NCIT:C34974", source="MONDO:equivalentTo"} -is_a: MONDO:0002280 {source="MESH:D012010"} ! anemia (disease) -is_a: MONDO:0005570 ! hematological system disease +is_a: MONDO:0002280 {source="DOID:1340/inferred", source="MESH:D012010"} ! anemia (disease) +is_a: MONDO:0005570 {source="DOID:1340/inferred", source="MESH:D012010/inferred", source="NCIT:C34974/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! hematological system disease relationship: excluded_subClassOf MONDO:0012197 {source="DOID:1340"} ! idiopathic aplastic anemia [Term] @@ -24393,6 +24633,8 @@ name: cerebral sarcoidosis def: "Sarcoidosis of the cerebrum." [NCIT:P378] synonym: "cerebral sarcoidosis" EXACT [DOID:13403, NCIT:C35441] synonym: "cerebral sarcoidosis (disorder)" EXACT [DOID:13403, SCTID:111936002] +synonym: "sarcoidosis of telencephalon" EXACT [MONDO:design_pattern] +synonym: "telencephalon sarcoidosis" EXACT [MONDO:design_pattern] xref: DOID:13403 {source="MONDO:equivalentTo"} xref: NCIT:C35441 {source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:13403", source="MONDO:equivalentTo"} xref: SCTID:111936002 {source="MONDO:kboom-pr-1.00/0.91/27.16", source="DOID:13403", source="MONDO:equivalentTo"} @@ -24406,6 +24648,8 @@ id: MONDO:0001707 name: cardiac sarcoidosis def: "Sarcoidosis affecting the tissues of the heart." [NCIT:P378] synonym: "Cardiac sarcoidosis (disorder)" EXACT [DOID:13405, SCTID:75403004] +synonym: "heart sarcoidosis" EXACT [MONDO:design_pattern] +synonym: "sarcoidosis of heart" EXACT [MONDO:design_pattern] xref: DOID:13405 {source="MONDO:equivalentTo"} xref: NCIT:C35589 {source="DOID:13405", source="MONDO:kboom-pr-1.00/0.86/15.87", source="MONDO:equivalentTo"} xref: SCTID:75403004 {source="DOID:13405", source="MONDO:kboom-pr-1.00/0.91/27.93", source="MONDO:equivalentTo"} @@ -24420,6 +24664,7 @@ id: MONDO:0001708 name: pulmonary sarcoidosis def: "Sarcoidosis affecting the lung parenchyma. It is characterized by the presence of non-necrotizing granulomas in the lung tissues. It is manifested with dyspnea, cough, fever, night sweats, fatigue, and weight loss." [NCIT:P378] synonym: "lung sarcoidosis" EXACT [DOID:13406, MONDO:patterns/location, NCIT:C34997] +synonym: "sarcoidosis of lung" EXACT [MONDO:design_pattern] xref: COHD:4086243 {source="MONDO:equivalentTo"} xref: DOID:13406 {source="MONDO:equivalentTo"} xref: ICD10:D86.0 {source="DOID:13406"} @@ -24458,7 +24703,7 @@ xref: ICD9:576.3 {source="DOID:13409", source="i2s", source="MONDO:equivalentTo" xref: NCIT:C78528 {source="MONDO:otherHierarchy", source="DOID:13409"} xref: SCTID:37439003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13409", source="MONDO:equivalentTo"} xref: UMLS:C0156218 {source="DOID:13409", source="MONDO:equivalentTo"} -is_a: MONDO:0004868 {source="DOID:13409"} ! biliary tract disease +is_a: MONDO:0004868 {source="DOID:13409", source="linkedlifedata/inferred"} ! biliary tract disease relationship: disease_has_location UBERON:0002394 ! bile duct [Term] @@ -24481,7 +24726,7 @@ xref: SCTID:13920009 {source="MONDO:kboom-pr-0.89/0.75/0.39", source="MONDO:equi xref: SCTID:197332007 {source="DOID:13413"} xref: SCTID:449902003 {source="DOID:13413"} xref: UMLS:C0019151 {source="NCIT:C79596", source="MONDO:equivalentTo", source="DOID:13413"} -is_a: MONDO:0005560 {source="DOID:13413", source="MESH:D006501/inferred", source="linkedlifedata"} ! brain disease +is_a: MONDO:0005560 {source="DOID:13413", source="MESH:D006501/inferred", source="NCIT:C79596", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10452/hepatic-encephalopathy xsd:anyURI {source="GARD:0010452"} [Term] @@ -24555,7 +24800,7 @@ xref: SCTID:28975000 {source="DOID:1342", source="MONDO:equivalentTo"} xref: SCTID:88854002 {source="DOID:1342"} xref: UMLS:C0702159 {source="DOID:1342", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C0949116 {source="DOID:1342", source="MONDO:equivalentTo"} -is_a: MONDO:0015909 {source="MESH:D029502", source="Orphanet:68383", source="linkedlife"} ! aplastic anemia +is_a: MONDO:0015909 {source="DOID:1342", source="MESH:D029502", source="Orphanet:68383", source="linkedlifedata"} ! aplastic anemia intersection_of: MONDO:0015909 ! aplastic anemia intersection_of: has_modifier MONDO:0021152 ! genetic and inherited relationship: excluded_subClassOf MONDO:0012197 {source="DOID:1342"} ! idiopathic aplastic anemia @@ -24577,7 +24822,7 @@ xref: MESH:D014211 {source="DOID:13431", source="MONDO:relatedTo"} xref: SCTID:186978001 {source="DOID:13431"} xref: SCTID:240686008 {source="DOID:13431"} xref: UMLS:C0004945 {source="DOID:13431", source="MONDO:equivalentTo"} -is_a: MONDO:0000314 {source="DOID:13431"} ! primary bacterial infectious disease +is_a: MONDO:0000314 {source="DOID:13431", source="DOID:13431/inferred"} ! primary bacterial infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:53436 ! Treponema pallidum subsp. endemicum property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5905/bejel xsd:anyURI {source="GARD:0005905"} @@ -24608,7 +24853,7 @@ xref: ICD9:371.16 {source="i2s", source="DOID:13447", source="MONDO:equivalentTo xref: SCTID:193809002 {source="DOID:13447"} xref: SCTID:21328003 {source="MONDO:kboom-pr-1.00/0.79/8.13", source="DOID:13447", source="MONDO:equivalentTo"} xref: UMLS:C0155108 {source="DOID:13447", source="MONDO:equivalentTo"} -is_a: MONDO:0000942 {source="DOID:13447", source="linkedlife/inferred"} ! corneal disease +is_a: MONDO:0000942 {source="DOID:13447", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease [Term] id: MONDO:0001717 @@ -24642,7 +24887,7 @@ xref: SCTID:194139000 {source="DOID:13452"} xref: SCTID:194140003 {source="DOID:13452"} xref: SCTID:78370002 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:13452", source="MONDO:equivalentTo"} xref: UMLS:C0036416 {source="NCIT:C119046", source="DOID:13452", source="MONDO:equivalentTo"} -is_a: MONDO:0001269 {source="DOID:13452", source="MESH:D015423"} ! scleral disease +is_a: MONDO:0001269 {source="DOID:13452", source="MESH:D015423", source="NCIT:C119046", source="linkedlifedata"} ! scleral disease [Term] id: MONDO:0001719 @@ -24656,7 +24901,7 @@ xref: ICD9:098.52 {source="i2s", source="DOID:13453", source="MONDO:equivalentTo xref: SCTID:186928003 {source="DOID:13453"} xref: SCTID:46699001 {source="MONDO:kboom-pr-1.00/0.91/25.35", source="DOID:13453", source="MONDO:equivalentTo"} xref: UMLS:C0153218 {source="DOID:13453", source="MONDO:equivalentTo"} -is_a: MONDO:0002471 {source="DOID:13453", source="MONDO:Entailed", source="linkedlifedata"} ! bursitis +is_a: MONDO:0002471 {source="DOID:13453", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! bursitis is_a: MONDO:0004277 {source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata"} ! gonorrhea intersection_of: MONDO:0002471 ! bursitis intersection_of: realized_in_response_to_stimulus NCBITaxon:485 ! Neisseria gonorrhoeae @@ -24802,7 +25047,7 @@ xref: ICD9:386.01 {source="DOID:13490", source="i2s", source="MONDO:equivalentTo xref: SCTID:194348002 {source="MONDO:kboom-pr-1.00/0.79/7.71", source="DOID:13490", source="MONDO:equivalentTo"} xref: SCTID:8535002 {source="DOID:13490"} xref: UMLS:C0155496 {source="DOID:13490", source="MONDO:equivalentTo"} -is_a: MONDO:0007972 {source="DOID:13490", source="linkedlifedata"} ! Meniere disease +is_a: MONDO:0007972 {source="DOID:13490", source="linkedlifedata", source="linkedlifedata/inferred"} ! Meniere disease [Term] id: MONDO:0001728 @@ -24817,7 +25062,7 @@ xref: ICD9:386.03 {source="DOID:13491", source="i2s", source="MONDO:equivalentTo xref: SCTID:194350005 {source="MONDO:kboom-pr-1.00/0.79/7.71", source="DOID:13491", source="MONDO:equivalentTo"} xref: SCTID:51003001 {source="DOID:13491"} xref: UMLS:C0155498 {source="DOID:13491", source="MONDO:equivalentTo"} -is_a: MONDO:0007972 {source="DOID:13491", source="linkedlifedata"} ! Meniere disease +is_a: MONDO:0007972 {source="DOID:13491", source="linkedlifedata", source="linkedlifedata/inferred"} ! Meniere disease [Term] id: MONDO:0001729 @@ -24832,7 +25077,7 @@ xref: ICD9:386.02 {source="DOID:13492", source="i2s", source="MONDO:equivalentTo xref: SCTID:194349005 {source="MONDO:kboom-pr-1.00/0.79/7.71", source="DOID:13492", source="MONDO:equivalentTo"} xref: SCTID:21653008 {source="DOID:13492"} xref: UMLS:C0155497 {source="DOID:13492", source="MONDO:equivalentTo"} -is_a: MONDO:0007972 {source="DOID:13492", source="linkedlifedata"} ! Meniere disease +is_a: MONDO:0007972 {source="DOID:13492", source="linkedlifedata", source="linkedlifedata/inferred"} ! Meniere disease [Term] id: MONDO:0001730 @@ -24846,7 +25091,7 @@ xref: SCTID:197906006 {source="DOID:13498"} xref: SCTID:266633007 {source="DOID:13498"} xref: SCTID:31273004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13498", source="MONDO:equivalentTo"} xref: UMLS:C0156279 {source="DOID:13498", source="MONDO:equivalentTo"} -is_a: MONDO:0004184 {source="DOID:13498"} ! urethral disease +is_a: MONDO:0004184 {source="DOID:13498", source="linkedlifedata"} ! urethral disease [Term] id: MONDO:0001731 @@ -24858,7 +25103,7 @@ synonym: "benign vaginal mixed epithelial and mesenchymal tumor" EXACT [NCIT:C40 xref: DOID:135 {source="MONDO:equivalentTo"} xref: NCIT:C40275 {source="DOID:135", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1511106 {source="NCIT:C40275", source="DOID:135", source="MONDO:equivalentTo"} -is_a: MONDO:0000647 {source="NCIT:C40275"} ! benign vaginal neoplasm +is_a: MONDO:0000647 {source="DOID:135", source="NCIT:C40275"} ! benign vaginal neoplasm [Term] id: MONDO:0001732 @@ -24951,9 +25196,9 @@ xref: SCTID:268359006 {source="DOID:13515"} xref: SCTID:7199000 {source="DOID:13515", source="MONDO:kboom-pr-0.92/0.83/0.17", source="MONDO:equivalentTo"} xref: UMLS:C0041341 {source="DOID:13515", source="NCIT:C3424"} is_a: MONDO:0000426 {source="DOID:13515"} ! autosomal dominant disease -is_a: MONDO:0015356 {source="MESH:D014402"} ! hereditary neoplastic syndrome +is_a: MONDO:0015356 {source="MESH:D014402", source="NCIT:C3424/inferred", source="linkedlifedata"} ! hereditary neoplastic syndrome is_a: MONDO:0024237 {source="MESH:D014402"} ! inherited neurodegenerative disorder -is_a: MONDO:0042983 {source="https://www.hopkinsmedicine.org"} ! neurocutaneous syndrome +is_a: MONDO:0042983 {source="MESH:D014402", source="NCIT:C3424", source="https://www.hopkinsmedicine.org", source="linkedlifedata"} ! neurocutaneous syndrome relationship: disease_has_feature MONDO:0006499 {source="MESH:D014402"} ! hamartoma (disease) [Term] @@ -24964,6 +25209,7 @@ synonym: "disease of paranasal sinus" EXACT [MONDO:patterns/location_top] synonym: "disorder of nasal sinus" EXACT [DOID:1352, SCTID:7393007] synonym: "disorder of paranasal sinus" RELATED [MONDO:patterns/location_top] synonym: "paranasal sinus disease" EXACT [MONDO:patterns/location, NCIT:C26843] +synonym: "paranasal sinus disease or disorder" EXACT [MONDO:design_pattern] synonym: "paranasal sinus disorder" EXACT [NCIT:C26843] synonym: "sinus disorder" EXACT [NCIT:C26843] xref: DOID:1352 {source="MONDO:equivalentTo"} @@ -24986,7 +25232,7 @@ xref: ICD10:P39.0 {source="DOID:13520", source="MONDO:equivalentTo"} xref: ICD9:771.5 {source="DOID:13520", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:3468005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13520", source="MONDO:equivalentTo"} xref: UMLS:C0158948 {source="DOID:13520", source="MONDO:equivalentTo"} -is_a: MONDO:0006849 {source="DOID:13520", source="MONDOLEX:0001736", source="linkedlifedata"} ! mastitis +is_a: MONDO:0006849 {source="DOID:13520", source="MONDOLEX:0001736", source="linkedlifedata", source="linkedlifedata/inferred"} ! mastitis [Term] id: MONDO:0001737 @@ -25002,7 +25248,7 @@ xref: SCTID:206338004 {source="DOID:13521"} xref: SCTID:206339007 {source="DOID:13521"} xref: SCTID:43424001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13521", source="MONDO:equivalentTo"} xref: UMLS:C0343312 {source="NCIT:C116814", source="DOID:13521", source="MONDO:equivalentTo"} -is_a: MONDO:0005526 {source="DOID:13521", source="NCIT:C116814", source="linkedlifedata"} ! tetanus +is_a: MONDO:0005526 {source="DOID:13521", source="NCIT:C116814", source="linkedlifedata", source="linkedlifedata/inferred"} ! tetanus [Term] id: MONDO:0001738 @@ -25022,7 +25268,7 @@ xref: DOID:13534 {source="MONDO:equivalentTo"} xref: ICD9:386.33 {source="i2s", source="MONDO:equivalentTo", source="DOID:13534"} xref: SCTID:24817009 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo", source="DOID:13534"} xref: UMLS:C0155506 {source="MONDO:equivalentTo", source="DOID:13534"} -is_a: MONDO:0002008 {source="DOID:13534", source="linkedlifedata"} ! labyrinthitis +is_a: MONDO:0002008 {source="DOID:13534", source="DOID:13534/inferred", source="linkedlifedata"} ! labyrinthitis [Term] id: MONDO:0001740 @@ -25043,7 +25289,7 @@ xref: SCTID:255008003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:135 xref: UMLS:C0346366 {source="DOID:13538", source="NCIT:C4552", source="MONDO:equivalentTo"} is_a: MONDO:0002466 {source="MONDO:Entailed", source="NCIT:C4552", source="OWLReasoner:2017"} ! eye carcinoma is_a: MONDO:0003802 {source="DOID:13538", source="MONDO:Entailed", source="NCIT:C4552", source="linkedlifedata"} ! cornea cancer -is_a: MONDO:0005096 {source="MONDO:Redundant", source="NCIT:C4552", source="linkedlifedata"} ! squamous cell carcinoma +is_a: MONDO:0005096 {source="MONDO:Redundant", source="NCIT:C4552", source="linkedlifedata", source="linkedlifedata/inferred"} ! squamous cell carcinoma is_a: MONDO:0010150 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! head and neck squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0000964 ! cornea @@ -25071,7 +25317,7 @@ xref: SCTID:190451000 {source="DOID:13543"} xref: SCTID:66999008 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:13543", source="MONDO:equivalentTo"} xref: UMLS:C0020502 {source="NCIT:C48259", source="MEDGEN:kboom-pr98-c99", source="DOID:13543", source="MONDO:equivalentTo"} is_a: MONDO:0001223 {source="DOID:13543", source="EFO:0008506", source="MESH:D006961", source="NCIT:C48259", source="linkedlifedata"} ! parathyroid gland disease -is_a: MONDO:0005151 {source="MESH:D006961/inferred", source="MONDO:Redundant", source="NCIT:C48259", source="linkedlifedata"} ! endocrine system disease +is_a: MONDO:0005151 {source="DOID:13543/inferred", source="MESH:D006961/inferred", source="MONDO:Redundant", source="NCIT:C48259", source="linkedlifedata", source="linkedlifedata/inferred"} ! endocrine system disease relationship: disease_has_major_feature HP:0000843 ! Hyperparathyroidism [Term] @@ -25102,11 +25348,10 @@ synonym: "primary paranasal sinus lymphoma" EXACT [NCIT:C6068] xref: DOID:1355 {source="MONDO:equivalentTo"} xref: NCIT:C6068 {source="DOID:1355", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1335339 {source="DOID:1355", source="MONDO:equivalentTo", source="NCIT:C6068"} -is_a: MONDO:0000380 {source="DOID:1355"} ! paranasal sinus carcinoma is_a: MONDO:0005062 {source="DOID:1355", source="MONDO:Entailed", source="NCIT:C6068/inferred"} ! lymphoma -is_a: MONDO:0020008 {source="OWLReasoner:2017"} ! rare immune disease intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0001825 ! paranasal sinus +relationship: excluded_subClassOf MONDO:0000380 {source="DOID:1355"} ! paranasal sinus carcinoma [Term] id: MONDO:0001744 @@ -25154,7 +25399,7 @@ xref: ICD9:377.21 {source="DOID:13561", source="i2s", source="MONDO:equivalentTo xref: MESH:D015594 {source="MONDO:ontobio", source="DOID:13561", source="MONDO:equivalentTo"} xref: SCTID:33629003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13561", source="MONDO:equivalentTo"} xref: UMLS:C0029128 {source="DOID:13561", source="MONDO:equivalentTo"} -is_a: MONDO:0002135 {source="DOID:13561", source="MESH:D015594", source="linkedlife/inferred"} ! optic nerve disease +is_a: MONDO:0002135 {source="DOID:13561", source="MESH:D015594", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic nerve disease [Term] id: MONDO:0001747 @@ -25199,7 +25444,10 @@ intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus [Term] id: MONDO:0001749 name: cortical senile cataract +def: "A senile cataract that involves the lens cortex." [MONDO:design_pattern] synonym: "cortical senile cataract" EXACT [DOID:13574, SCTID:78875003] +synonym: "lens cortex senile cataract" EXACT [MONDO:design_pattern] +synonym: "senile cataract of lens cortex" EXACT [MONDO:design_pattern] xref: COHD:432895 {source="MONDO:equivalentTo"} xref: DOID:13574 {source="MONDO:equivalentTo"} xref: ICD9:366.15 {source="i2s", source="DOID:13574", source="MONDO:equivalentTo"} @@ -25207,6 +25455,8 @@ xref: SCTID:193588001 {source="DOID:13574"} xref: SCTID:78875003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13574", source="MONDO:equivalentTo"} xref: UMLS:C0154980 {source="DOID:13574", source="MONDO:equivalentTo"} is_a: MONDO:0004847 {source="DOID:13574", source="MONDOLEX:0001749", source="linkedlifedata"} ! senile cataract +intersection_of: MONDO:0004847 ! senile cataract +intersection_of: disease_has_location UBERON:0000389 ! lens cortex [Term] id: MONDO:0001750 @@ -25245,6 +25495,7 @@ synonym: "alveolitis of jaw (disorder)" EXACT [DOID:13585, SCTID:61804006] synonym: "alveolitis of jaw NOS (disorder)" EXACT [DOID:13585, SCTID:196467004] synonym: "dry socket" EXACT [DOID:13585, MTHICD9_2006:526.5] synonym: "dry tooth socket" EXACT [DOID:13585, SCTID:196465007, SCTID:196466008] +synonym: "extrinsic allergic alveolitis of jaw skeleton" EXACT [MONDO:design_pattern] synonym: "jaw skeleton extrinsic allergic alveolitis" EXACT [MONDO:patterns/location] xref: COHD:201332 {source="MONDO:equivalentTo"} xref: DOID:13585 {source="MONDO:equivalentTo"} @@ -25302,7 +25553,8 @@ xref: SCTID:198996001 {source="DOID:13593"} xref: SCTID:303063000 {source="MONDO:kboom-pr-0.90/0.75/0.60", source="MONDO:equivalentTo"} xref: UMLS:C0013537 {source="NCIT:C87167", source="DOID:13593", source="MONDO:equivalentTo"} xref: UMLS:C0156678 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005081 {source="DOID:13593"} ! preeclampsia +is_a: MONDO:0045048 {source="NCIT:C87167"} ! toxemia of pregnancy +relationship: excluded_subClassOf MONDO:0005081 {source="DOID:13593"} ! preeclampsia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6316/eclampsia xsd:anyURI {source="GARD:0006316"} [Term] @@ -25416,10 +25668,15 @@ is_a: MONDO:0005775 {source="DOID:13628", source="MESH:D005236"} ! glucosephosph [Term] id: MONDO:0001762 name: dentine erosion +def: "A tooth erosion, non-bacterial that involves the dentine." [MONDO:design_pattern] +synonym: "dentine tooth erosion, non-bacterial" EXACT [MONDO:design_pattern] +synonym: "tooth erosion, non-bacterial of dentine" EXACT [MONDO:design_pattern] xref: DOID:13629 {source="MONDO:equivalentTo"} xref: ICD9:521.32 {source="DOID:13629"} xref: UMLS:C1456162 {source="DOID:13629"} -is_a: MONDO:0002325 {source="DOID:13629"} ! tooth erosion +is_a: MONDO:0002325 {source="DOID:13629"} ! tooth erosion, non-bacterial +intersection_of: MONDO:0002325 ! tooth erosion, non-bacterial +intersection_of: disease_has_location UBERON:0001751 ! dentine [Term] id: MONDO:0001763 @@ -25489,7 +25746,7 @@ xref: ICD9:357.4 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:193177003 {source="DOID:13649", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:193181003 {source="DOID:13649"} xref: UMLS:C0154759 {source="DOID:13649", source="MONDO:equivalentTo"} -is_a: MONDO:0001824 {source="DOID:13649", source="MONDOLEX:0001765", source="linkedlifedata"} ! polyneuropathy +is_a: MONDO:0001824 {source="DOID:13649", source="MONDOLEX:0001765", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyneuropathy [Term] id: MONDO:0001766 @@ -25500,7 +25757,7 @@ xref: ICD10:H04.52 {source="DOID:13651"} xref: ICD9:375.51 {source="i2s", source="DOID:13651", source="MONDO:equivalentTo"} xref: SCTID:28244003 {source="DOID:13651", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155243 {source="DOID:13651", source="MONDO:equivalentTo"} -is_a: MONDO:0001854 {source="DOID:13651", source="linkedlife", source="linkedlifedata"} ! lacrimal apparatus disease +is_a: MONDO:0001854 {source="DOID:13651", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease [Term] id: MONDO:0001767 @@ -25511,8 +25768,8 @@ xref: ICD10:H04.56 {source="DOID:13653"} xref: ICD9:375.52 {source="i2s", source="DOID:13653", source="MONDO:equivalentTo"} xref: SCTID:74783009 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:13653", source="MONDO:equivalentTo"} xref: UMLS:C0155244 {source="DOID:13653", source="MONDO:equivalentTo"} -is_a: MONDO:0001854 {source="DOID:13653", source="MONDO:Entailed", source="linkedlife", source="linkedlifedata"} ! lacrimal apparatus disease -is_a: MONDO:0003382 {source="DOID:13653", source="linkedlife"} ! eyelid disease +is_a: MONDO:0001854 {source="DOID:13653", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease +is_a: MONDO:0003382 {source="DOID:13653", source="linkedlifedata"} ! eyelid disease relationship: disease_has_location UBERON:0010284 ! lacrimal punctum [Term] @@ -25527,8 +25784,8 @@ xref: ICD9:375.53 {source="i2s", source="DOID:13654", source="MONDO:equivalentTo xref: SCTID:193992001 {source="DOID:13654"} xref: SCTID:81345003 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:13654", source="MONDO:equivalentTo"} xref: UMLS:C0155245 {source="DOID:13654"} -is_a: MONDO:0001854 {source="DOID:13654", source="MONDO:Entailed", source="linkedlifedata"} ! lacrimal apparatus disease -is_a: MONDO:0003382 {source="DOID:13654", source="linkedlife/inferred"} ! eyelid disease +is_a: MONDO:0001854 {source="DOID:13654", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease +is_a: MONDO:0003382 {source="DOID:13654", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! eyelid disease relationship: disease_has_location UBERON:0001770 ! lacrimal canaliculus [Term] @@ -25547,7 +25804,7 @@ xref: SCTID:193995004 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:eq xref: SCTID:267739007 {source="DOID:13655"} xref: SCTID:90056003 {source="DOID:13655"} xref: UMLS:C0155248 {source="DOID:13655"} -is_a: MONDO:0001854 {source="DOID:13655", source="linkedlifedata"} ! lacrimal apparatus disease +is_a: MONDO:0001854 {source="DOID:13655", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease relationship: disease_has_location UBERON:0002392 ! nasolacrimal duct [Term] @@ -25560,7 +25817,7 @@ xref: SCTID:190443003 {source="DOID:13656"} xref: SCTID:190445005 {source="DOID:13656"} xref: SCTID:47344007 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="DOID:13656", source="MONDO:equivalentTo"} xref: UMLS:C0000774 {source="DOID:13656", source="MONDO:equivalentTo"} -is_a: MONDO:0001933 {source="DOID:13656"} ! endocrine pancreas disease +is_a: MONDO:0001933 {source="DOID:13656", source="linkedlifedata/inferred"} ! endocrine pancreas disease [Term] id: MONDO:0001771 @@ -25597,7 +25854,7 @@ xref: ICD9:323.51 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D004673 {source="DOID:13664", source="MONDO:relatedTo"} xref: SCTID:31367003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13664", source="MONDO:equivalentTo"} xref: UMLS:C0751101 {source="DOID:13664", source="MONDO:equivalentTo"} -is_a: MONDO:0019956 {source="DOID:13664", source="linkedlifedata"} ! encephalitis +is_a: MONDO:0019956 {source="DOID:13664", source="linkedlifedata", source="linkedlifedata/inferred"} ! encephalitis [Term] id: MONDO:0001774 @@ -25622,13 +25879,15 @@ xref: ICD10:K31.5 {source="DOID:13687"} xref: ICD9:537.2 {source="i2s", source="DOID:13687", source="MONDO:equivalentTo"} xref: SCTID:52232007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13687", source="MONDO:equivalentTo"} xref: UMLS:C0156087 {source="DOID:13687", source="MONDO:equivalentTo"} -is_a: MONDO:0002688 {source="DOID:13687", source="linkedlife"} ! duodenal obstruction +is_a: MONDO:0002688 {source="DOID:13687", source="linkedlifedata"} ! duodenal obstruction [Term] id: MONDO:0001776 name: prostate calculus def: "A concretion in the prostate." [NCIT:P378] synonym: "calculus of prostate" EXACT [DOID:13689, ICD9CM_2006:602.0] +synonym: "lower urinary tract calculus of prostate gland" EXACT [MONDO:design_pattern] +synonym: "prostate gland lower urinary tract calculus" EXACT [MONDO:design_pattern] synonym: "prostatic lithiasis" EXACT [DOID:13689, SCTID:95592006] synonym: "prostatic stone" EXACT [DOID:13689, MTHICD9_2006:602.0] synonym: "Stone of prostate" EXACT [DOID:13689, NCIT:C26936] @@ -25650,13 +25909,14 @@ id: MONDO:0001777 name: acute gonococcal cystitis def: "Acute form of gonococcal cystitis." [MONDO:patterns/acute] synonym: "acute gonorrhea of bladder" EXACT [DOID:13690, MTHICD9_2006:098.11] +synonym: "Gonococcal cystitis" EXACT [DOID:13690] synonym: "gonococcal cystitis (acute)" EXACT [DOID:13690, ICD9CM_2006:098.11] synonym: "gonococcal cystitis, acute" EXACT [MONDO:patterns/acute] xref: DOID:13690 {source="MONDO:equivalentTo"} xref: ICD9:098.11 {source="DOID:13690", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:24868007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13690", source="MONDO:equivalentTo"} xref: UMLS:C0153191 {source="DOID:13690", source="MONDO:equivalentTo"} -is_a: MONDO:0001650 {source="DOID:13690", source="MONDO:Entailed", source="MONDOLEX:0001777", source="linkedlifedata"} ! acute cystitis (disease) +is_a: MONDO:0001650 {source="DOID:13690", source="MONDO:Entailed", source="MONDOLEX:0001777", source="linkedlifedata", source="linkedlifedata/inferred"} ! acute cystitis (disease) is_a: MONDO:0021160 {source="MONDO:Entailed", source="MONDOLEX:0001777", source="OWLReasoner:2017", source="linkedlifedata"} ! gonococcal cystitis intersection_of: MONDO:0021160 ! gonococcal cystitis intersection_of: has_modifier PATO:0000389 ! acute @@ -25720,8 +25980,8 @@ xref: SCTID:192468006 {source="DOID:13709"} xref: SCTID:268762007 {source="DOID:13709"} xref: SCTID:44001008 {source="DOID:13709"} xref: UMLS:C0033038 {source="NCIT:C94349", source="DOID:13709"} -is_a: MONDO:0000595 {source="NCIT:C94349"} ! sexual disorder -is_a: MONDO:0000947 {source="DOID:13709"} ! psychosexual disorder +is_a: MONDO:0000595 {source="DOID:13709/inferred", source="NCIT:C94349"} ! sexual disorder +relationship: disease_disrupts GO:0042713 ! sperm ejaculation [Term] id: MONDO:0001781 @@ -25734,7 +25994,7 @@ xref: DOID:1371 {source="MONDO:equivalentTo"} xref: NCIT:C27250 {source="exact-label-match", source="DOID:1371", source="MONDO:equivalentTo"} xref: UMLS:C1336902 {source="NCIT:C27250", source="DOID:1371", source="MONDO:equivalentTo"} is_a: MONDO:0000632 {source="DOID:1371", source="MONDO:Redundant", source="NCIT:C27250/inferred"} ! uterine benign neoplasm -is_a: MONDO:0002654 {source="MONDO:Redundant", source="NCIT:C27250/inferred", source="OWLReasoner:2017"} ! uterine disease +is_a: MONDO:0002654 {source="DOID:1371/inferred", source="MONDO:Redundant", source="NCIT:C27250/inferred", source="OWLReasoner:2017"} ! uterine disease is_a: MONDO:0004230 {source="DOID:1371", source="MONDO:Entailed", source="MONDOLEX:0001781", source="NCIT:C27250"} ! adenomatoid tumor is_a: MONDO:0021525 {source="MONDO:Entailed", source="NCIT:C27250", source="OWLReasoner:Elk-2018-01-09"} ! benign neoplasm of corpus uteri intersection_of: MONDO:0004230 ! adenomatoid tumor @@ -25743,15 +26003,18 @@ intersection_of: disease_has_location UBERON:0009853 ! body of uterus [Term] id: MONDO:0001782 name: mature cataract +def: "A cataract that produces swelling and opacity of the entire lens; cataracts are removed before maturity." [https://medical-dictionary.thefreedictionary.com/mature+cataract] comment: May be ceded to HPO. Note current classification may be incorrect synonym: "total or mature cataract" EXACT [DOID:13717, ICD9CM_2006:366.17] synonym: "total, mature senile cataract" EXACT [DOID:13717, SCTID:193590000] xref: COHD:377285 {source="MONDO:equivalentTo"} xref: DOID:13717 {source="MONDO:equivalentTo"} xref: ICD9:366.17 {source="i2s", source="MONDO:equivalentTo"} -xref: SCTID:193590000 {source="MONDO:kboom-pr-0.88/0.76/0.10", source="DOID:13717", source="MONDO:equivalentTo"} +xref: SCTID:193590000 {source="DOID:13717"} +xref: SCTID:849000 {source="MONDO:equivalentTo"} xref: UMLS:C0152257 {source="DOID:13717"} -is_a: MONDO:0004847 {source="DOID:13717", source="MONDOLEX:0001782"} ! senile cataract +is_a: MONDO:0005129 {source="DOID:13717/inferred"} ! cataract (disease) +relationship: excluded_subClassOf MONDO:0004847 {source="DOID:13717", source="MONDOLEX:0001782"} ! senile cataract [Term] id: MONDO:0001783 @@ -25765,7 +26028,7 @@ xref: SCTID:189810002 {source="DOID:1373"} xref: SCTID:70971005 {source="DOID:1373"} xref: SCTID:721571001 {source="MONDO:kboom-pr-1.00/0.80/9.57", source="MONDO:equivalentTo"} xref: UMLS:C0334485 {source="DOID:1373", source="NCIT:C4262", source="MONDO:equivalentTo"} -is_a: MONDO:0000632 {source="DOID:1373", source="MONDO:Redundant", source="NCIT:C4262/inferred", source="linkedlifedata"} ! uterine benign neoplasm +is_a: MONDO:0000632 {source="DOID:1373", source="MONDO:Redundant", source="NCIT:C4262/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! uterine benign neoplasm is_a: MONDO:0021525 {source="NCIT:C4262", source="linkedlifedata"} ! benign neoplasm of corpus uteri is_a: MONDO:0044335 {source="NCIT:C4262"} ! benign soft tissue neoplasm @@ -25861,7 +26124,7 @@ xref: ICD9:214.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4619 {source="exact-label-match", source="MONDO:equivalentTo", source="DOID:13743"} xref: SCTID:189017000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:13743"} xref: UMLS:C0347446 {source="NCIT:C4619", source="MONDO:equivalentTo", source="DOID:13743"} -is_a: MONDO:0002545 {source="DOID:13743", source="MONDO:Redundant", source="linkedlifedata"} ! spinal cord disease +is_a: MONDO:0002545 {source="DOID:13743", source="MONDO:Redundant", source="NCIT:C4619/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! spinal cord disease is_a: MONDO:0003844 {source="DOID:13743", source="MONDO:Entailed", source="NCIT:C4619"} ! central nervous system lipoma is_a: MONDO:0021506 {source="MONDO:Entailed", source="NCIT:C4619", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of spinal cord intersection_of: MONDO:0005106 ! lipoma @@ -25876,8 +26139,8 @@ xref: ICD10:P39.3 {source="DOID:1375"} xref: ICD9:771.82 {source="DOID:1375"} xref: SCTID:12301009 {source="DOID:1375", source="MONDO:equivalentTo"} xref: UMLS:C0235815 {source="DOID:1375", source="MONDO:equivalentTo"} -is_a: MONDO:0002118 {source="DOID:1375", source="MONDO:Redundant"} ! urinary system disease -is_a: MONDO:0005247 {source="MONDO:cjm"} ! urinary tract infection (disease) +is_a: MONDO:0002118 {source="DOID:1375", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! urinary system disease +is_a: MONDO:0005247 {source="MONDO:cjm", source="linkedlifedata"} ! urinary tract infection (disease) [Term] id: MONDO:0001792 @@ -25968,7 +26231,7 @@ xref: NCIT:C26913 {source="DOID:13775", source="MONDO:equivalentTo", source="MON xref: SCTID:154363006 {source="DOID:13775"} xref: SCTID:63440008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13775", source="MONDO:equivalentTo"} xref: UMLS:C0042548 {source="NCIT:C26913", source="DOID:13775", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="DOID:13775", source="EFO:1002023", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:13775", source="EFO:1002023", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease is_a: MONDO:0024666 {source="NCIT:C26913"} ! benign epithelial skin neoplasm intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0008338 ! plantar part of pes @@ -26002,7 +26265,7 @@ xref: SCTID:87429008 {source="DOID:13778"} xref: UMLS:C0007947 {source="DOID:13778", source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:13778"} ! primary bacterial infectious disease is_a: MONDO:0005323 {source="MESH:D002602", source="MONDO:Entailed"} ! bacterial sexually transmitted disease -is_a: MONDO:0006926 {source="MESH:D002602", source="MONDO:Entailed"} ! haemophilus infectious disease +is_a: MONDO:0006926 {source="MESH:D002602", source="MONDO:Entailed", source="linkedlifedata"} ! haemophilus infectious disease intersection_of: MONDO:0005323 ! bacterial sexually transmitted disease intersection_of: realized_in_response_to_stimulus NCBITaxon:730 ! [Haemophilus] ducreyi relationship: realized_in_response_to_stimulus NCBITaxon:730 {source="Wikidata"} ! [Haemophilus] ducreyi @@ -26020,7 +26283,7 @@ xref: ICD9:728.5 {source="DOID:13781", source="i2s", source="MONDO:equivalentTo" xref: SCTID:156723005 {source="DOID:13781"} xref: SCTID:85551004 {source="DOID:13781", source="MONDO:kboom-pr-1.00/0.91/28.95", source="MONDO:equivalentTo"} xref: UMLS:C0152093 {source="DOID:13781", source="MONDO:equivalentTo"} -is_a: MONDO:0006816 {source="DOID:13781", source="linkedlife"} ! arthropathy +is_a: MONDO:0006816 {source="DOID:13781", source="linkedlifedata"} ! arthropathy [Term] id: MONDO:0001799 @@ -26031,7 +26294,7 @@ xref: ICD10:H15.82 {source="DOID:13787"} xref: ICD9:379.14 {source="i2s", source="MONDO:equivalentTo", source="DOID:13787"} xref: SCTID:21946002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:13787"} xref: UMLS:C0155362 {source="MONDO:equivalentTo", source="DOID:13787"} -is_a: MONDO:0001321 {source="DOID:13787", source="linkedlifedata"} ! scleral staphyloma (disease) +is_a: MONDO:0001321 {source="DOID:13787", source="linkedlifedata", source="linkedlifedata/inferred"} ! scleral staphyloma (disease) [Term] id: MONDO:0001800 @@ -26068,7 +26331,7 @@ xref: SCTID:194312004 {source="DOID:13790"} xref: SCTID:194313009 {source="DOID:13790"} xref: SCTID:297009 {source="DOID:13790", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0155460 {source="DOID:13790", source="MONDO:equivalentTo"} -is_a: MONDO:0003648 {source="DOID:13790", source="linkedlife/inferred"} ! tympanic membrane disease +is_a: MONDO:0003648 {source="DOID:13790", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! tympanic membrane disease is_a: MONDO:0024616 ! tympanitis [Term] @@ -26082,7 +26345,7 @@ xref: ICD10:H73.01 {source="DOID:13791"} xref: ICD9:384.01 {source="DOID:13791", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:33528003 {source="DOID:13791", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.78/7.15"} xref: UMLS:C0155461 {source="DOID:13791", source="MONDO:equivalentTo"} -is_a: MONDO:0003648 {source="DOID:13791", source="linkedlife/inferred"} ! tympanic membrane disease +is_a: MONDO:0003648 {source="DOID:13791", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! tympanic membrane disease [Term] id: MONDO:0001804 @@ -26199,6 +26462,7 @@ synonym: "disorder of hypoglossal nerve (disorder)" EXACT [DOID:13814, SCTID:247 synonym: "disorder of the XII nerve" EXACT [NCIT:C26954] synonym: "disorder of XII nerve" EXACT [DOID:13814, NCIT:C26954] synonym: "hypoglossal nerve disease" EXACT [MONDO:patterns/location] +synonym: "hypoglossal nerve disease or disorder" EXACT [MONDO:design_pattern] synonym: "hypoglossal nerve disorder" EXACT [NCIT:C26954] synonym: "twelfth nerve disorder" EXACT [NCIT:C26954] xref: COHD:435537 {source="MONDO:equivalentTo"} @@ -26209,10 +26473,10 @@ xref: MESH:D020437 {source="DOID:13814", source="MONDO:ontobio", source="MONDO:e xref: NCIT:C26954 {source="DOID:13814", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:24777009 {source="DOID:13814", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0152181 {source="DOID:13814", source="MONDO:equivalentTo", source="NCIT:C26954"} -is_a: MONDO:0002639 {source="DOID:13814"} ! glossopharyngeal nerve disease -is_a: MONDO:0003569 {source="MESH:D020437", source="MONDO:Redundant", source="NCIT:C26954", source="linkedlifedata"} ! cranial nerve neuropathy +is_a: MONDO:0003569 {source="DOID:13814/inferred", source="MESH:D020437", source="MONDO:Redundant", source="NCIT:C26954", source="linkedlifedata"} ! cranial nerve neuropathy intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001650 ! hypoglossal nerve +relationship: excluded_subClassOf MONDO:0002639 {source="DOID:13814"} ! glossopharyngeal nerve disease [Term] id: MONDO:0001811 @@ -26225,7 +26489,7 @@ xref: NCIT:C35068 {source="DOID:13822", source="MONDO:kboom-pr-1.00/0.93/31.20", xref: SCTID:193607003 {source="DOID:13822"} xref: SCTID:68216000 {source="DOID:13822", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0039613 {source="DOID:13822", source="NCIT:C35068", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID:13822", source="NCIT:C35068", source="linkedlifedata"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID:13822", source="NCIT:C35068", source="linkedlifedata", source="linkedlifedata/inferred"} ! cataract (disease) [Term] id: MONDO:0001812 @@ -26237,7 +26501,7 @@ xref: ICD9:373.6 {source="DOID:13823", source="i2s", source="MONDO:equivalentTo" xref: SCTID:193922006 {source="DOID:13823", source="MONDO:kboom-pr-1.00/0.91/28.92", source="MONDO:equivalentTo"} xref: UMLS:C0155183 {source="DOID:13823", source="MONDO:equivalentTo"} is_a: MONDO:0004785 {source="DOID:13823"} ! blepharitis -is_a: MONDO:0005135 {source="linkedlife"} ! parasitic infection +is_a: MONDO:0005135 {source="linkedlifedata"} ! parasitic infection [Term] id: MONDO:0001813 @@ -26304,12 +26568,13 @@ id: MONDO:0001818 name: facial neuralgia def: "Neuralgic syndromes which feature chronic or recurrent facial pain as the primary manifestation of disease. Disorders of the trigeminal and facial nerves are frequently associated with these conditions." [MESH:D005156] synonym: "facial nerve neuralgia" EXACT [MONDO:patterns/location] +synonym: "neuralgia of facial nerve" EXACT [MONDO:design_pattern] xref: DOID:13865 {source="MONDO:equivalentTo"} xref: ICD9:351.8 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D005156 {source="DOID:13865", source="MONDO:equivalentTo"} xref: SCTID:4151000119102 {source="MONDO:kboom-pr-0.90/0.76/0.38", source="DOID:13865", source="MONDO:equivalentTo"} xref: UMLS:C0015467 {source="DOID:13865"} -is_a: MONDO:0002098 {source="DOID:13865", source="MESH:D005156", source="MONDO:Entailed"} ! facial nerve disease +is_a: MONDO:0002098 {source="DOID:13865", source="MESH:D005156", source="MONDO:Entailed", source="linkedlifedata"} ! facial nerve disease intersection_of: MONDO:0021667 ! neuralgia intersection_of: disease_has_location UBERON:0001647 ! facial nerve @@ -26342,7 +26607,7 @@ xref: ICD9:386.32 {source="DOID:13867", source="i2s", source="MONDO:equivalentTo xref: SCTID:194364005 {source="DOID:13867"} xref: SCTID:61794006 {source="DOID:13867", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/28.61"} xref: UMLS:C0155505 {source="DOID:13867", source="MONDO:equivalentTo"} -is_a: MONDO:0002008 {source="DOID:13867", source="linkedlifedata"} ! labyrinthitis +is_a: MONDO:0002008 {source="DOID:13867", source="DOID:13867/inferred", source="linkedlifedata"} ! labyrinthitis relationship: disease_has_feature HP:0009797 ! Cholesteatoma relationship: disease_has_feature MONDO:0000748 ! mastoiditis (disease) @@ -26362,8 +26627,8 @@ xref: SCTID:192464008 {source="DOID:13868"} xref: SCTID:270903007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13868", source="MONDO:equivalentTo"} xref: SCTID:78889008 {source="DOID:13868"} xref: UMLS:C0020594 {source="DOID:13868", source="NCIT:C94337"} -is_a: MONDO:0000595 {source="NCIT:C94337"} ! sexual disorder -is_a: MONDO:0000947 {source="DOID:13868", source="linkedlifedata"} ! psychosexual disorder +is_a: MONDO:0000595 {source="DOID:13868/inferred", source="NCIT:C94337", source="linkedlifedata/inferred"} ! sexual disorder +is_a: MONDO:0000947 {source="DOID:13868", source="linkedlifedata", source="linkedlifedata/inferred"} ! psychosexual disorder [Term] id: MONDO:0001822 @@ -26407,6 +26672,8 @@ xref: SCTID:36083008 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:1388 xref: UMLS:C0037052 {source="NCIT:C62244", source="DOID:13884"} is_a: MONDO:0000469 {source="DOID:13884"} ! sinoatrial node disease is_a: MONDO:0002254 {source="MONDOLEX:0001823", source="NCIT:C62244"} ! syndromic disease +relationship: disease_has_basis_in_dysfunction_of UBERON:0002351 ! sinoatrial node +relationship: disease_has_feature HP:0011675 ! Arrhythmia [Term] id: MONDO:0001824 @@ -26429,8 +26696,8 @@ xref: SCTID:267706009 {source="DOID:1389"} xref: SCTID:307326004 {source="DOID:1389"} xref: SCTID:42345000 {source="DOID:1389", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0152025 {source="NCIT:C26951", source="DOID:1389", source="MONDO:equivalentTo"} -is_a: MONDO:0003620 {source="DOID:1389", source="MESH:D011115", source="MONDO:0001824/inferred", source="MONDO:Redundant", source="MONDOLEX:0001824/inferred", source="NCIT:C26951/inferred", source="linkedlifedata"} ! peripheral nervous system disease -is_a: MONDO:0005244 {source="MONDOLEX:0001824", source="NCIT:C26951", source="linkedlifedata"} ! peripheral neuropathy +is_a: MONDO:0003620 {source="DOID:1389", source="MESH:D011115", source="MONDO:0001824/inferred", source="MONDO:Redundant", source="MONDOLEX:0001824/inferred", source="NCIT:C26951/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral nervous system disease +is_a: MONDO:0005244 {source="MONDOLEX:0001824", source="NCIT:C26951", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy [Term] id: MONDO:0001825 @@ -26478,6 +26745,7 @@ is_a: MONDO:0000253 {source="DOID:13902", source="MONDOLEX:0001827"} ! piedra is_a: MONDO:0000306 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-03-07", source="linkedlifedata"} ! trichosporonosis intersection_of: MONDO:0024268 ! superficial mycosis intersection_of: realized_in_response_to_stimulus NCBITaxon:5553 ! Trichosporon beigelii +relationship: disease_has_location UBERON:0002027 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! stratum corneum of epidermis [Term] id: MONDO:0001828 @@ -26500,16 +26768,20 @@ intersection_of: has_modifier MONDO:0021141 ! acquired [Term] id: MONDO:0001829 name: lumbosacral plexus lesion +def: "A nerve plexus disease that involves the lumbosacral nerve plexus." [MONDO:design_pattern] +synonym: "lumbosacral nerve plexus nerve plexus disease" EXACT [MONDO:design_pattern] synonym: "lumbosacral plexus lesion (disorder)" EXACT [DOID:13913, SCTID:4062006] synonym: "lumbosacral plexus lesions" EXACT [DOID:13913, ICD9CM_2006:353.1] +synonym: "nerve plexus disease of lumbosacral nerve plexus" EXACT [MONDO:design_pattern] xref: COHD:197852 {source="MONDO:equivalentTo"} xref: DOID:13913 {source="MONDO:equivalentTo"} xref: ICD9:353.1 {source="DOID:13913", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:4062006 {source="DOID:13913", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0154735 {source="DOID:13913", source="MONDO:equivalentTo"} -is_a: MONDO:0003620 {source="DOID:13913", source="MONDO:Redundant"} ! peripheral nervous system disease -is_a: MONDO:0024432 {source="MONDO:Entailed", source="linkedlife", source="linkedlife/inferred"} ! nerve plexus disease -relationship: disease_has_location UBERON:0001810 ! nerve plexus +is_a: MONDO:0003620 {source="DOID:13913", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! peripheral nervous system disease +is_a: MONDO:0024432 {source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! nerve plexus disease +intersection_of: MONDO:0024432 ! nerve plexus disease +intersection_of: disease_has_location UBERON:0001815 ! lumbosacral nerve plexus [Term] id: MONDO:0001830 @@ -26572,7 +26844,7 @@ xref: SCTID:246865000 {source="DOID:13929"} xref: SCTID:416920000 {source="DOID:13929", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: SCTID:95769009 {source="DOID:13929"} xref: UMLS:C0022906 {source="DOID:13929"} -is_a: MONDO:0001854 {source="DOID:13929", source="linkedlife", source="linkedlifedata"} ! lacrimal apparatus disease +is_a: MONDO:0001854 {source="DOID:13929", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease relationship: disease_has_location UBERON:0002392 ! nasolacrimal duct [Term] @@ -26583,6 +26855,7 @@ comment: Editor note: see notes on uberon class, different sources are more or l synonym: "disease of optic tract" EXACT [MONDO:patterns/location_top] synonym: "disorder of optic tract" EXACT [MONDO:patterns/location_top] synonym: "optic tract disease" EXACT [MONDO:patterns/location] +synonym: "optic tract disease or disorder" EXACT [MONDO:design_pattern] synonym: "optic tract disorder" RELATED [] synonym: "visual Pathway disorder" EXACT [NCIT:C35342] xref: DOID:1393 {source="MONDO:equivalentTo"} @@ -26595,9 +26868,9 @@ xref: SCTID:267744000 {source="DOID:1393"} xref: SCTID:54767005 {source="DOID:1393", source="MONDO:equivalentTo"} xref: SCTID:95776004 {source="MONDO:equivalentTo"} xref: UMLS:C0155287 {source="NCIT:C35342", source="DOID:1393", source="MONDO:equivalentTo"} -is_a: MONDO:0002602 {source="linkedlife"} ! central nervous system disease +is_a: MONDO:0002602 {source="linkedlifedata", source="linkedlifedata/inferred"} ! central nervous system disease is_a: MONDO:0021084 {source="NCIT:C35342"} ! vision disorder -is_a: MONDO:0024458 {source="linkedlife"} ! disease of visual system +is_a: MONDO:0024458 {source="linkedlifedata", source="linkedlifedata/inferred"} ! disease of visual system intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001908 ! optic tract relationship: excluded_subClassOf MONDO:0005328 {source="DOID:1393"} ! eye disease @@ -26608,6 +26881,7 @@ name: facial paralysis def: "Severe or complete loss of facial muscle motor function. This condition may result from central or peripheral lesions. Damage to CNS motor pathways from the cerebral cortex to the facial nuclei in the pons leads to facial weakness that generally spares the forehead muscles. facial nerve diseases generally results in generalized hemifacial weakness. neuromuscular junction diseases and muscular diseases may also cause facial paralysis or paresis." [MESH:D005158] synonym: "face palsy" EXACT [MONDO:patterns/location] synonym: "Facial palsy" EXACT [DOID:13934, NCIT:C26769] +synonym: "palsy of face" EXACT [MONDO:design_pattern] xref: DOID:13934 {source="MONDO:equivalentTo"} xref: ICD10:G51.0 {source="DOID:13934", source="MONDO:superClassOf"} xref: MESH:D005158 {source="DOID:13934", source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -26742,8 +27016,8 @@ xref: DOID:13957 {source="MONDO:equivalentTo"} xref: EFO:1000614 {source="MONDO:equivalentTo"} xref: NCIT:C40168 {source="DOID:13957", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1519856 {source="DOID:13957", source="NCIT:C40168", source="MONDO:equivalentTo"} -is_a: MONDO:0005070 {source="EFO:1000614/inferred", source="MONDO:Redundant", source="NCIT:C40168/inferred"} ! neoplasm (disease) -is_a: MONDO:0007886 {source="NCIT:C40168"} ! uterine corpus leiomyoma +is_a: MONDO:0005070 {source="DOID:13957/inferred", source="EFO:1000614/inferred", source="MONDO:Redundant", source="NCIT:C40168/inferred"} ! neoplasm (disease) +is_a: MONDO:0007886 {source="DOID:13957", source="NCIT:C40168"} ! uterine corpus leiomyoma is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C40168/inferred", source="OWLReasoner:Elk-2018-01-09"} ! benign neoplasm of corpus uteri relationship: disease_has_location UBERON:0009853 ! body of uterus @@ -26751,6 +27025,7 @@ relationship: disease_has_location UBERON:0009853 ! body of uterus id: MONDO:0001846 name: uterine corpus bizarre leiomyoma def: "A morphologic variant of uterine corpus leiomyoma characterized by significant cytologic atypia. The atypical cells are large with pleomophic hyperchromatic nuclei." [NCIT:C40167] +synonym: "bizarre leiomyoma of body of uterus" EXACT [MONDO:design_pattern] synonym: "body of uterus bizarre leiomyoma" EXACT [MONDO:patterns/location] synonym: "uterine corpus bizarre leiomyoma" EXACT [NCIT:C40167] synonym: "uterine corpus leiomyoma with bizarre nuclei" EXACT [NCIT:C40167] @@ -26760,7 +27035,7 @@ xref: DOID:13958 {source="MONDO:equivalentTo"} xref: NCIT:C40167 {source="DOID:13958", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1519853 {source="NCIT:C40167", source="DOID:13958", source="MONDO:equivalentTo"} is_a: MONDO:0000632 {source="DOID:13958", source="MONDO:Redundant", source="NCIT:C40167/inferred"} ! uterine benign neoplasm -is_a: MONDO:0002654 {source="MONDO:Redundant", source="NCIT:C40167/inferred", source="OWLReasoner:2017"} ! uterine disease +is_a: MONDO:0002654 {source="DOID:13958/inferred", source="MONDO:Redundant", source="NCIT:C40167/inferred", source="OWLReasoner:2017"} ! uterine disease is_a: MONDO:0003288 {source="DOID:13958", source="MONDO:Entailed", source="MONDOLEX:0001846", source="NCIT:C40167"} ! bizarre leiomyoma is_a: MONDO:0007886 {source="MONDO:Entailed", source="MONDOLEX:0001846", source="NCIT:C40167"} ! uterine corpus leiomyoma is_a: MONDO:0021525 {source="MONDO:Redundant", source="NCIT:C40167/inferred", source="OWLReasoner:Elk-2018-01-09"} ! benign neoplasm of corpus uteri @@ -26770,6 +27045,9 @@ intersection_of: disease_has_location UBERON:0009853 ! body of uterus [Term] id: MONDO:0001847 name: nuclear senile cataract +def: "A senile cataract that involves the lens nucleus." [MONDO:design_pattern] +synonym: "lens nucleus senile cataract" EXACT [MONDO:design_pattern] +synonym: "senile cataract of lens nucleus" EXACT [MONDO:design_pattern] synonym: "Senile nuclear cataract" EXACT [DOID:13963, SCTID:46129005] synonym: "Senile nuclear sclerosis" EXACT [DOID:13963, ICD9CM_2006:366.16] xref: COHD:439297 {source="MONDO:equivalentTo"} @@ -26779,21 +27057,26 @@ xref: SCTID:193589009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: SCTID:46129005 {source="DOID:13963"} xref: UMLS:C0271166 {source="DOID:13963"} is_a: MONDO:0004847 {source="DOID:13963", source="MONDOLEX:0001847", source="linkedlifedata"} ! senile cataract +intersection_of: MONDO:0004847 ! senile cataract +intersection_of: disease_has_location UBERON:0000390 ! lens nucleus [Term] id: MONDO:0001848 name: Morgagni cataract -synonym: "hypermature cataract" EXACT [DOID:13964, ICD9CM_2006:366.18] +def: "a form of hypermature cataract formed by liquefaction of the cortex and sinking of the dense nucleus to the bottom of the capsular bag." [http://eyewiki.aao.org/Morgagnian_Cataract] +synonym: "hypermature cataract" BROAD [DOID:13964, ICD9CM_2006:366.18] +synonym: "Morgagnian cataract" EXACT [] xref: COHD:379811 {source="MONDO:equivalentTo"} xref: DOID:13964 {source="MONDO:equivalentTo"} xref: ICD9:366.18 {source="i2s", source="DOID:13964", source="MONDO:equivalentTo"} xref: SCTID:193591001 {source="DOID:13964"} xref: SCTID:22315007 {source="DOID:13964"} xref: SCTID:247065006 {source="DOID:13964"} -xref: SCTID:264443002 {source="DOID:13964"} -xref: SCTID:267626000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13964", source="MONDO:equivalentTo"} +xref: SCTID:264443002 {source="DOID:13964", source="MONDO:equivalentTo"} +xref: SCTID:267626000 {source="DOID:13964"} xref: UMLS:C0152258 {source="DOID:13964", source="MONDO:equivalentTo"} -is_a: MONDO:0004847 {source="DOID:13964"} ! senile cataract +is_a: MONDO:0045049 {source="http://eyewiki.aao.org/Morgagnian_Cataract", source="linkedlifedata"} ! hypermature cataract +relationship: excluded_subClassOf MONDO:0004847 {source="DOID:13964"} ! senile cataract [Term] id: MONDO:0001849 @@ -26831,7 +27114,7 @@ xref: ICD9:375.13 {source="DOID:1399", source="i2s", source="MONDO:equivalentTo" xref: SCTID:17093002 {source="DOID:1399", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: SCTID:193978007 {source="DOID:1399"} xref: UMLS:C0155229 {source="DOID:1399", source="MONDO:equivalentTo"} -is_a: MONDO:0001854 {source="DOID:1399", source="linkedlifedata"} ! lacrimal apparatus disease +is_a: MONDO:0001854 {source="DOID:1399", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease [Term] id: MONDO:0001852 @@ -26851,8 +27134,8 @@ xref: NCIT:C4007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equival xref: SCTID:449074003 {source="MONDO:kboom-pr-0.77/0.38/0.75", source="MONDO:equivalentTo", source="DOID:13996"} xref: UMLS:C0278805 {source="NCIT:C4007", source="MONDO:equivalentTo", source="DOID:13996"} is_a: MONDO:0000956 {source="DOID:13996", source="MONDO:Entailed", source="NCIT:C4007"} ! small intestine cancer -is_a: MONDO:0004699 {source="MONDO:Entailed", source="NCIT:C4007", source="linkedlifedata"} ! gastrointestinal lymphoma -is_a: MONDO:0005062 {source="DOID:13996", source="MONDO:Redundant", source="NCIT:C4007/inferred", source="linkedlifedata"} ! lymphoma +is_a: MONDO:0004699 {source="MONDO:Entailed", source="NCIT:C4007", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastrointestinal lymphoma +is_a: MONDO:0005062 {source="DOID:13996", source="MONDO:Redundant", source="NCIT:C4007/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymphoma intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0002108 ! small intestine @@ -26877,6 +27160,7 @@ synonym: "disorder of lacrimal apparatus" RELATED [MONDO:patterns/location_top] synonym: "disorder of lacrimal system" EXACT [NCIT:C26809] synonym: "lachrymal system disorders" RELATED [] synonym: "lacrimal apparatus disease" EXACT [MONDO:patterns/location] +synonym: "lacrimal apparatus disease or disorder" EXACT [MONDO:design_pattern] synonym: "lacrimal system disease" EXACT [MONDO:0021628] synonym: "lacrimal system disorder" EXACT [NCIT:C26809] xref: DOID:1400 {source="MONDO:equivalentTo"} @@ -26895,7 +27179,7 @@ xref: SCTID:267740009 {source="DOID:1400"} xref: SCTID:31053003 {source="DOID:1400", source="MONDO:equivalentTo"} xref: UMLS:C0022904 {source="NCIT:C26809", source="DOID:1400"} is_a: MONDO:0005328 {source="DOID:1400", source="MONDO:Entailed", source="NCIT:C26809"} ! eye disease -is_a: MONDO:0021199 {source="MONDO:metaclass"} ! disease by anatomical system +is_a: MONDO:0021199 {source="DOID:1400/inferred", source="MONDO:metaclass", source="linkedlifedata/inferred"} ! disease by anatomical system intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001750 ! lacrimal apparatus @@ -26918,7 +27202,7 @@ xref: DOID:14006 {source="MONDO:equivalentTo"} xref: ICD9:442.83 {source="i2s", source="MONDO:equivalentTo", source="DOID:14006"} xref: SCTID:70405009 {source="MONDO:kboom-pr-1.00/0.81/10.62", source="MONDO:equivalentTo", source="DOID:14006"} xref: UMLS:C0155747 {source="MONDO:equivalentTo", source="DOID:14006"} -is_a: MONDO:0000473 {source="DOID:14006"} ! arterial disorder +is_a: MONDO:0000473 {source="DOID:14006", source="linkedlifedata/inferred"} ! arterial disorder [Term] id: MONDO:0001857 @@ -26931,7 +27215,7 @@ xref: SCTID:186308009 {source="DOID:14019"} xref: SCTID:428174001 {source="DOID:14019", source="MONDO:equivalentTo"} xref: SCTID:78576009 {source="DOID:14019"} xref: UMLS:C0494040 {source="DOID:14019", source="MONDO:equivalentTo"} -is_a: MONDO:0005683 {source="DOID:14019"} ! brucellosis +is_a: MONDO:0005683 {source="DOID:14019", source="linkedlifedata"} ! brucellosis relationship: disease_has_feature HP:0001324 ! Muscle weakness relationship: disease_has_feature HP:0001744 ! Splenomegaly relationship: disease_has_feature HP:0001824 ! Weight loss @@ -26946,6 +27230,7 @@ synonym: "costochondral joint syndromic disease" EXACT [MONDO:patterns/location] synonym: "costochondral junction syndrome" EXACT [DOID:14021, MTHICD9_2006:733.6] synonym: "Costochondritis" EXACT [DOID:14021, SCTID:203523006] synonym: "slipping rib syndrome" EXACT [DOID:14021, SCTID:91226007] +synonym: "syndromic disease of costochondral joint" EXACT [MONDO:design_pattern] synonym: "Tietze syndrome" EXACT [DOID:14021] synonym: "Tietze's disease" EXACT [DOID:14021, ICD9CM_2006:733.6] synonym: "Tietze's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] @@ -26967,7 +27252,7 @@ xref: SCTID:64109004 {source="DOID:14021"} xref: SCTID:91226007 {source="DOID:14021"} xref: UMLS:C0040213 {source="DOID:14021", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:14021", source="MONDO:Entailed", source="MONDOLEX:0001858"} ! syndromic disease -is_a: MONDO:0005569 {source="DOID:14021", source="MESH:D013991", source="linkedlifedata"} ! cartilage disease +is_a: MONDO:0005569 {source="DOID:14021", source="MESH:D013991", source="linkedlifedata", source="linkedlifedata/inferred"} ! cartilage disease intersection_of: MONDO:0002254 ! syndromic disease intersection_of: disease_has_location UBERON:0002293 ! costochondral joint @@ -27000,7 +27285,7 @@ xref: SCTID:154791000 {source="DOID:14026"} xref: SCTID:191152006 {source="DOID:14026"} xref: SCTID:85649008 {source="MONDO:kboom-pr-1.00/0.78/6.73", source="DOID:14026", source="MONDO:equivalentTo"} xref: UMLS:C0151482 {source="DOID:14026", source="MONDO:equivalentTo"} -is_a: MONDO:0006873 {source="DOID:14026"} ! nutritional deficiency disease +is_a: MONDO:0006873 {source="DOID:14026", source="linkedlifedata"} ! nutritional deficiency disease [Term] id: MONDO:0001861 @@ -27010,7 +27295,7 @@ synonym: "primary malignant neoplasm of parietal pleura (disorder)" EXACT [DOID: xref: DOID:14032 {source="MONDO:equivalentTo"} xref: SCTID:93948004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14032", source="MONDO:equivalentTo"} xref: UMLS:C0153495 {source="DOID:14032", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006294 {source="DOID:14032", source="linkedlifedata"} ! pleural cancer +is_a: MONDO:0006294 {source="DOID:14032", source="linkedlifedata", source="linkedlifedata/inferred"} ! pleural cancer [Term] id: MONDO:0001862 @@ -27020,7 +27305,7 @@ synonym: "primary malignant neoplasm of visceral pleura (disorder)" EXACT [DOID: xref: DOID:14033 {source="MONDO:equivalentTo"} xref: SCTID:94140004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14033", source="MONDO:equivalentTo"} xref: UMLS:C0153496 {source="DOID:14033", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006294 {source="DOID:14033", source="linkedlifedata"} ! pleural cancer +is_a: MONDO:0006294 {source="DOID:14033", source="linkedlifedata", source="linkedlifedata/inferred"} ! pleural cancer [Term] id: MONDO:0001863 @@ -27035,7 +27320,7 @@ xref: ICD9:747.22 {source="DOID:14037", source="i2s", source="MONDO:equivalentTo xref: SCTID:204431007 {source="DOID:14037", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.76/0.55"} xref: SCTID:204438001 {source="DOID:14037"} xref: UMLS:C0345010 {source="DOID:14037"} -is_a: MONDO:0005561 {source="DOID:14037", source="linkedlifedata"} ! aortic disease +is_a: MONDO:0005561 {source="DOID:14037", source="linkedlifedata", source="linkedlifedata/inferred"} ! aortic disease [Term] id: MONDO:0001864 @@ -27068,12 +27353,12 @@ xref: ICD9:296.7 {source="i2s", source="MONDO:equivalentTo"} xref: SCTID:371596008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.91/27.50"} xref: SCTID:49468007 {source="DOID:14042"} xref: UMLS:C0236773 {source="DOID:14042"} -is_a: MONDO:0004985 {source="DOID:14042", source="linkedlife"} ! bipolar disorder +is_a: MONDO:0004985 {source="DOID:14042", source="linkedlifedata"} ! bipolar disorder [Term] id: MONDO:0001867 name: phaeohyphomycosis -def: "Phaeohyphomycosis refers to fungal infections caused by dematiaceous (darkly, pigmented fungi). It can be associated with a variety of clinical syndromes including invasive sinusitis ; nodules or abscesses beneath the skin; keratitis ; lung masses; osteomyelitis ; mycotic arthritis ; endocarditis ; brain abscess; and wide-spread infection. Although the condition can affect all people, it is most commonly diagnosed in immunocompetent and immunosuppressed people and can even be life-threatening in these populations. Treatment depends on the signs and symptoms present in each person but may include surgery and/or various medications." [https://rarediseases.info.nih.gov/diseases/12803/phaeohyphomycosis] +def: "An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions." [https://www.ncbi.nlm.nih.gov/books/NBK7902/] subset: gard_rare {source="GARD:0012803"} synonym: "infection by dematiacious fungi" EXACT [DOID:14049, MTHICD9_2006:117.8] synonym: "infection by dematiacious fungi [Phaehyphomycosis]" EXACT [DOID:14049, ICD9CM_2006:117.8] @@ -27084,7 +27369,9 @@ xref: GARD:0012803 {source="MONDO:equivalentTo"} xref: ICD9:117.8 {source="i2s", source="MONDO:equivalentTo"} xref: MESH:D060446 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:47158003 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} -is_a: MONDO:0000308 {source="DOID:14049"} ! primary systemic mycosis +is_a: MONDO:0002041 {source="DOID:14049/inferred", source="MESH:D060446", source="linkedlifedata/inferred"} ! fungal infectious disease +relationship: excluded_subClassOf MONDO:0000308 {source="DOID:14049"} ! primary systemic mycosis +relationship: has_modifier MONDO:0045035 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! opportunistic infectious relationship: realized_in_response_to_stimulus NCBITaxon:5498 ! Cladosporium relationship: realized_in_response_to_stimulus NCBITaxon:5579 ! Aureobasidium relationship: realized_in_response_to_stimulus NCBITaxon:5598 ! Alternaria @@ -27120,7 +27407,7 @@ xref: SCTID:42456004 {source="DOID:1405"} xref: UMLS:C0017605 {source="NCIT:C34639", source="MONDO:subClassOf"} xref: UMLS:C0017606 {source="DOID:1405", source="MONDO:equivalentTo"} is_a: MONDO:0001744 {source="DOID:1405", source="MONDOLEX:0001868", source="linkedlifedata"} ! angle-closure glaucoma -is_a: MONDO:0005041 {source="EFO:1001506", source="ICD10:H40.2/inferred", source="MONDO:Redundant", source="NCIT:C34639", source="linkedlifedata"} ! glaucoma (disease) +is_a: MONDO:0005041 {source="DOID:1405/inferred", source="EFO:1001506", source="ICD10:H40.2/inferred", source="MONDO:Redundant", source="NCIT:C34639", source="linkedlifedata", source="linkedlifedata/inferred"} ! glaucoma (disease) [Term] id: MONDO:0001869 @@ -27153,7 +27440,7 @@ xref: DOID:14064 {source="MONDO:equivalentTo"} xref: NCIT:C35443 {source="MONDO:directSiblingOf", source="DOID:14064"} xref: SCTID:68544003 {source="MONDO:kboom-pr-1.00/0.80/10.29", source="DOID:14064", source="MONDO:equivalentTo"} xref: UMLS:C0403414 {source="DOID:14064", source="MONDO:equivalentTo"} -is_a: MONDO:0002462 {source="DOID:14064", source="MONDOLEX:0001870", source="linkedlifedata"} ! glomerulonephritis (disease) +is_a: MONDO:0002462 {source="DOID:14064", source="MONDOLEX:0001870", source="linkedlifedata", source="linkedlifedata/inferred"} ! glomerulonephritis (disease) [Term] id: MONDO:0001871 @@ -27172,16 +27459,17 @@ intersection_of: has_modifier PATO:0000389 ! acute [Term] id: MONDO:0001872 -name: vestibular nystagmus (disease) +name: obsolete vestibular nystagmus (disease) synonym: "Nystagmus associated with disorder of the vestibular system" EXACT [DOID:14070, ICD9CM_2006:379.54] synonym: "vestibular nystagmus" EXACT [MONDO:ambiguous] -xref: COHD:377568 {source="MONDO:equivalentTo"} -xref: DOID:14070 {source="MONDO:equivalentTo"} -xref: HP:0010542 {source="MONDO:otherHierarchy", source="ontobio"} -xref: ICD9:379.54 {source="DOID:14070", source="i2s", source="MONDO:equivalentTo"} -xref: SCTID:46888001 {source="DOID:14070", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} -xref: UMLS:C0155379 {source="DOID:14070", source="MONDO:equivalentTo"} -is_a: MONDO:0001524 {source="DOID:14070"} ! globe disease +xref: COHD:377568 {source="MONDO:obsoleteEquivalent"} +xref: DOID:14070 {source="MONDO:obsoleteEquivalent"} +xref: ICD9:379.54 {source="DOID:14070", source="MONDO:obsoleteEquivalent", source="i2s"} +xref: SCTID:46888001 {source="DOID:14070", source="MONDO:obsoleteEquivalent", source="MONDO:kboom-pr-1.00/0.91/29.66"} +xref: UMLS:C0155379 {source="DOID:14070", source="MONDO:obsoleteEquivalent"} +relationship: excluded_subClassOf MONDO:0001524 {source="DOID:14070"} ! globe disease +is_obsolete: true +replaced_by: HP:0010542 [Term] id: MONDO:0001873 @@ -27198,8 +27486,8 @@ xref: SCTID:155071009 {source="DOID:14075"} xref: SCTID:267704007 {source="DOID:14075"} xref: SCTID:72839009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14075", source="MONDO:equivalentTo"} xref: UMLS:C0017407 {source="DOID:14075", source="MONDO:equivalentTo"} -is_a: MONDO:0002098 {source="DOID:14075"} ! facial nerve disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0002098 {source="DOID:14075", source="ICD10:G51.1", source="linkedlifedata"} ! facial nerve disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001700 ! geniculate ganglion @@ -27215,7 +27503,7 @@ xref: ICD9:386.34 {source="DOID:14081", source="i2s", source="MONDO:equivalentTo xref: SCTID:3344003 {source="DOID:14081", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: SCTID:9062008 {source="MONDO:equivalentTo"} xref: UMLS:C0155507 {source="DOID:14081", source="MONDO:equivalentTo"} -is_a: MONDO:0002008 {source="DOID:14081", source="linkedlifedata"} ! labyrinthitis +is_a: MONDO:0002008 {source="DOID:14081", source="DOID:14081/inferred", source="linkedlifedata"} ! labyrinthitis [Term] id: MONDO:0001875 @@ -27244,8 +27532,8 @@ xref: SCTID:268088003 {source="DOID:14087"} xref: SCTID:73583000 {source="DOID:14087"} xref: UMLS:C0014488 {source="DOID:14087", source="NCIT:C34589", source="MONDO:equivalentTo"} xref: UMLS:C0039516 {source="DOID:14087"} -is_a: MONDO:0002614 {source="DOID:14087", source="linkedlifedata"} ! bone inflammation disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0002614 {source="DOID:14087", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone inflammation disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0006807 ! ectepicondyle of humerus @@ -27265,7 +27553,7 @@ xref: SCTID:155416004 {source="DOID:14092"} xref: SCTID:45281005 {source="DOID:14092", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155734 {source="DOID:14092", source="MONDO:equivalentTo"} is_a: MONDO:0002286 {source="DOID:14092", source="linkedlifedata"} ! renal artery disease -is_a: MONDO:0005311 {source="DOID:14092", source="ICD10:I70.1", source="MONDO:Entailed"} ! atherosclerosis +is_a: MONDO:0005311 {source="DOID:14092", source="ICD10:I70.1", source="MONDO:Entailed", source="linkedlifedata"} ! atherosclerosis intersection_of: MONDO:0005311 ! atherosclerosis intersection_of: disease_has_location UBERON:0001184 ! renal artery @@ -27296,7 +27584,7 @@ xref: SCTID:13483000 {source="DOID:14099"} xref: SCTID:266438007 {source="MONDO:kboom-pr-0.85/0.68/0.11", source="MONDO:equivalentTo"} xref: UMLS:C0700588 {source="DOID:14099"} xref: UMLS:C2937286 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0001561 {source="DOID:14099", source="linkedlifedata"} ! pyloric stenosis (disease) +is_a: MONDO:0001561 {source="DOID:14099", source="DOID:14099/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! pyloric stenosis (disease) intersection_of: MONDO:0001560 ! hypertrophic pyloric stenosis intersection_of: has_modifier MONDO:0021141 ! acquired @@ -27328,7 +27616,7 @@ xref: SCTID:93669004 {source="DOID:14110"} xref: SCTID:93676009 {source="DOID:14110"} xref: UMLS:C0153445 {source="DOID:14110", source="MONDO:relatedTo"} xref: UMLS:C0153446 {source="DOID:14110", source="NCIT:C7379"} -is_a: MONDO:0002516 {source="MONDO:Redundant", source="NCIT:C7379"} ! digestive system cancer +is_a: MONDO:0002516 {source="DOID:14110/inferred", source="MONDO:Redundant", source="NCIT:C7379"} ! digestive system cancer is_a: MONDO:0002519 {source="DOID:14110", source="MONDO:Redundant", source="NCIT:C7379/inferred"} ! anus disease is_a: MONDO:0003046 {source="MONDO:Entailed", source="NCIT:C7379"} ! anus neoplasm intersection_of: MONDO:0004992 ! cancer @@ -27431,7 +27719,7 @@ xref: ICD9:239.7 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C5826 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:14125", source="MONDO:equivalentTo"} xref: SCTID:126972009 {source="DOID:14125", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1263898 {source="NCIT:C5826", source="DOID:14125", source="MONDO:equivalentTo"} -is_a: MONDO:0002633 {source="MONDO:Entailed", source="NCIT:C5826", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! cranial nerve neoplasm +is_a: MONDO:0002633 {source="DOID:14125", source="MONDO:Entailed", source="NCIT:C5826", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! cranial nerve neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001646 ! abducens nerve @@ -27459,14 +27747,18 @@ is_a: MONDO:0001592 {source="DOID:14131", source="ICD10:N81.11", source="ICD10:N [Term] id: MONDO:0001887 -name: Masters-Allen syndrome +name: Allen-Masters syndrome +def: "A syndrome characterized by laceration in the posterior leaf of broad ligament along with abnormally mobile cervix." [doi:10.1007/s10620-006-9237-7] synonym: "Broad ligament laceration syndrome" EXACT [DOID:14133, ICD9CM_2006:620.6] +synonym: "Masters-Allen syndrome" EXACT [DOID:14133] xref: COHD:193523 {source="MONDO:equivalentTo"} xref: DOID:14133 {source="MONDO:equivalentTo"} xref: ICD9:620.6 {source="DOID:14133", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:69186005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14133", source="MONDO:equivalentTo"} xref: UMLS:C0152079 {source="DOID:14133", source="MONDO:equivalentTo"} is_a: MONDO:0002263 {source="DOID:14133"} ! female reproductive system disease +is_a: MONDO:0045043 ! disease of uterine broad ligament +relationship: disease_has_location UBERON:0012332 ! broad ligament of uterus [Term] id: MONDO:0001888 @@ -27506,15 +27798,20 @@ xref: SCTID:267399006 {source="DOID:1414"} xref: SCTID:37102008 {source="MONDO:kboom-pr-1.00/0.80/9.23", source="MONDO:equivalentTo"} xref: UMLS:C0029697 {source="DOID:1414"} xref: UMLS:C0747102 {source="NCIT:C113351"} -is_a: MONDO:0005558 {source="DOID:1414", source="NCIT:C113351/inferred"} ! ovarian disease +is_a: MONDO:0005558 {source="DOID:1414", source="EFO:0009003", source="NCIT:C113351/inferred", source="linkedlifedata"} ! ovarian disease [Term] id: MONDO:0001890 name: pulp erosion +def: "A tooth erosion, non-bacterial that involves the dental pulp." [MONDO:design_pattern] +synonym: "dental pulp tooth erosion, non-bacterial" EXACT [MONDO:design_pattern] +synonym: "tooth erosion, non-bacterial of dental pulp" EXACT [MONDO:design_pattern] xref: DOID:14140 {source="MONDO:equivalentTo"} xref: ICD9:521.33 {source="DOID:14140"} xref: UMLS:C1456163 {source="DOID:14140"} -is_a: MONDO:0002325 {source="DOID:14140"} ! tooth erosion +is_a: MONDO:0002325 {source="DOID:14140"} ! tooth erosion, non-bacterial +intersection_of: MONDO:0002325 ! tooth erosion, non-bacterial +intersection_of: disease_has_location UBERON:0001754 ! dental pulp [Term] id: MONDO:0001891 @@ -27576,13 +27873,14 @@ id: MONDO:0001895 name: acute retrobulbar neuritis def: "Acute form of retrobulbar neuritis." [MONDO:patterns/acute] synonym: "acute retrobulbar neuritis (disorder)" EXACT [DOID:14155, SCTID:51604006] +synonym: "Retrobulbar neuritis" EXACT [DOID:14155] synonym: "retrobulbar neuritis (acute)" EXACT [DOID:14155, ICD9CM_2006:377.32] synonym: "retrobulbar neuritis, acute" EXACT [MONDO:patterns/acute] xref: DOID:14155 {source="MONDO:equivalentTo"} xref: ICD9:377.32 {source="DOID:14155", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:51604006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14155", source="MONDO:equivalentTo"} xref: UMLS:C0155301 {source="DOID:14155", source="MONDO:equivalentTo"} -is_a: MONDO:0005885 {source="DOID:14155", source="MONDO:Redundant", source="linkedlifedata"} ! optic neuritis +is_a: MONDO:0005885 {source="DOID:14155", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! optic neuritis intersection_of: MONDO:0024335 ! retrobulbar neuritis intersection_of: has_modifier PATO:0000389 ! acute @@ -27614,7 +27912,7 @@ xref: ICD9:386.52 {source="DOID:14165"} xref: SCTID:194373002 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:14165", source="MONDO:equivalentTo"} xref: SCTID:5311007 {source="DOID:14165"} xref: UMLS:C0155516 {source="DOID:14165", source="MONDO:equivalentTo"} -is_a: MONDO:0003571 {source="DOID:14165", source="linkedlifedata"} ! labyrinthine dysfunction +is_a: MONDO:0003571 {source="DOID:14165", source="linkedlifedata", source="linkedlifedata/inferred"} ! labyrinthine dysfunction [Term] id: MONDO:0001898 @@ -27625,6 +27923,7 @@ synonym: "choroid disorder" EXACT [NCIT:C34468] synonym: "disease of optic choroid" EXACT [MONDO:patterns/location_top] synonym: "disorder of optic choroid" RELATED [MONDO:patterns/location_top] synonym: "optic choroid disease" EXACT [MONDO:patterns/location] +synonym: "optic choroid disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:1417 {source="MONDO:equivalentTo"} xref: ICD10:H31.9 {source="DOID:1417"} xref: ICD9:363.8 {source="i2s", source="MONDO:relatedTo"} @@ -27635,7 +27934,7 @@ xref: SCTID:128468007 {source="MONDO:equivalentTo"} xref: SCTID:193431000 {source="DOID:1417"} xref: SCTID:193480005 {source="DOID:1417"} xref: UMLS:C0008521 {source="DOID:1417", source="NCIT:C34468", source="MONDO:equivalentTo"} -is_a: MONDO:0002661 {source="DOID:1417", source="MESH:D015862", source="MONDO:Entailed", source="NCIT:C34468", source="linkedlife"} ! uveal disease +is_a: MONDO:0002661 {source="DOID:1417", source="MESH:D015862", source="MONDO:Entailed", source="NCIT:C34468", source="linkedlifedata"} ! uveal disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001776 ! optic choroid @@ -27653,7 +27952,7 @@ xref: ICD9:398.91 {source="DOID:14172", source="i2s", source="MONDO:equivalentTo xref: SCTID:82523003 {source="DOID:14172", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155582 {source="DOID:14172", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} is_a: MONDO:0005009 {source="DOID:14172", source="MONDOLEX:0001899", source="linkedlifedata"} ! congestive heart failure -is_a: MONDO:0006955 ! rheumatic heart disease +is_a: MONDO:0006955 {source="ICD10:I09.81/inferred", source="linkedlifedata"} ! rheumatic heart disease [Term] id: MONDO:0001900 @@ -27663,13 +27962,15 @@ replaced_by: MONDO:0019134 [Term] id: MONDO:0001901 -name: selective IgG deficiency disease -def: "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity." [NCIT:P378] +name: selective IgG subclass deficiency +def: "A classification of dysgammaglobulinemias characterized by low or undetectable serum levels of one of the four immunoglobulin class G (IgG) subclasses. Selective IgG1 deficiency is rare and primarily decreases the immune response to bacterial protein antigens. Selective IgG2 deficiency is the most common subclass deficiency among children and primarily leads to an inadequate response to bacterial polysaccharide antigens. Selective IgG3 deficiency is the most common subclass deficiency among adults and also primarily lowers the response to bacterial proteins. Selective IgG4 deficiency may be a clinically insignificant developmental variant, as IgG4 is a subclass that is virtually undetectable until the end of the first decade of life. Low levels of any IgG subclass will reduce the immune system's effectiveness and thus the clinical presentation of these diseases is usually recurrent infection, particularly by encapsulated bacteria." [NCIT:C27024] synonym: "Immunoglobin G subclass deficiency" EXACT [DOID:14176, SCTID:123785006] synonym: "selective deficiency of IgG" EXACT [DOID:14176, MTHICD9_2006:279.03] +synonym: "selective IgG deficiency disease" RELATED [DOID:14176] synonym: "selective IgG immunodeficiency" EXACT [DOID:14176, NCIT:C27142] synonym: "selective immunoglobulin G deficiency" EXACT [DOID:14176] synonym: "selective immunoglobulin G deficiency (disorder)" EXACT [DOID:14176, SCTID:190981001] +synonym: "Selective Immunoglobulin G Subclass Deficiency" EXACT [NCIT:C27024] synonym: "selective Immunoglobulin G subclass deficiency" EXACT [DOID:14176, NCIT:C27024] xref: DOID:14176 {source="MONDO:equivalentTo"} xref: ICD10:D80.3 {source="DOID:14176"} @@ -27680,11 +27981,13 @@ xref: NCIT:C27142 {source="DOID:14176"} xref: SCTID:123785006 {source="DOID:14176"} xref: SCTID:190981001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14176", source="MONDO:equivalentTo"} xref: UMLS:C0162539 {source="DOID:14176"} -is_a: MONDO:0001342 {source="DOID:14176"} ! dysgammaglobulinemia (disease) +is_a: MONDO:0015697 {source="linkedlifedata"} ! immunoglobulin heavy chain deficiency +is_a: MONDO:0045045 {source="NCIT:C27024"} ! selective IgG immunodeficiency +relationship: excluded_subClassOf MONDO:0001342 {source="DOID:14176"} ! dysgammaglobulinemia (disease) [Term] id: MONDO:0001902 -name: congenital hypogammaglobulinemia +name: congenital agammaglobulinemia synonym: "congenital hypogammaglobulinaemia" EXACT [DOID:14177, SCTID:190983003] synonym: "congenital hypogammaglobulinemia (finding)" EXACT [DOID:14177, SCTID:267460002] xref: DOID:14177 {source="MONDO:equivalentTo"} @@ -27692,7 +27995,9 @@ xref: ICD9:279.04 {source="DOID:14177"} xref: SCTID:190983003 {source="DOID:14177"} xref: SCTID:267460002 {source="DOID:14177"} xref: UMLS:C1457897 {source="DOID:14177", source="MONDO:equivalentTo"} -is_a: MONDO:0002211 {source="DOID:14177"} ! B cell deficiency +intersection_of: MONDO:0015977 ! agammaglobulinemia +intersection_of: has_modifier MONDO:0021140 ! congenital +relationship: excluded_subClassOf MONDO:0002211 {source="DOID:14177"} ! B cell deficiency [Term] id: MONDO:0001903 @@ -27718,7 +28023,8 @@ xref: ICD10:G62.0 {source="DOID:14184"} xref: ICD9:357.6 {source="DOID:14184", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:7339009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14184", source="MONDO:equivalentTo"} xref: UMLS:C0154762 {source="DOID:14184", source="MONDO:equivalentTo"} -is_a: MONDO:0002336 {source="DOID:14184"} ! inflammatory and toxic neuropathy +is_a: MONDO:0001824 {source="linkedlifedata", source="linkedlifedata/inferred"} ! polyneuropathy +relationship: excluded_subClassOf MONDO:0002336 {source="DOID:14184"} ! inflammatory and toxic neuropathy [Term] id: MONDO:0001905 @@ -27734,6 +28040,7 @@ is_a: MONDO:0004855 {source="DOID:14192", source="linkedlifedata"} ! tenosynovit [Term] id: MONDO:0001906 name: posterior dislocation of lens +comment: May be obsoleted as it represents a finding; TODO add HPO class xref: COHD:374363 {source="MONDO:equivalentTo"} xref: DOID:14199 {source="MONDO:equivalentTo"} xref: ICD10:H27.13 {source="DOID:14199"} @@ -27741,7 +28048,9 @@ xref: ICD9:379.34 {source="DOID:14199", source="i2s", source="MONDO:equivalentTo xref: SCTID:14169000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14199", source="MONDO:equivalentTo"} xref: SCTID:194161005 {source="DOID:14199"} xref: UMLS:C0155373 {source="DOID:14199", source="MONDO:equivalentTo"} +is_a: MONDO:0001176 {source="linkedlifedata", source="linkedlifedata/inferred"} ! lens disease is_a: MONDO:0001524 {source="DOID:14199"} ! globe disease +relationship: disease_has_location UBERON:0000965 ! lens of camera-type eye [Term] id: MONDO:0001907 @@ -27749,6 +28058,7 @@ name: adult dermatomyositis def: "Dermatomyositis in an adult." [NCIT:C27313] synonym: "adult onset dermatomyositis" EXACT [DOID:14202] synonym: "adult onset dermatomyositis (disorder)" EXACT [DOID:14202, SCTID:402425006] +synonym: "dermatomyositis of adults" EXACT [MONDO:design_pattern] xref: DOID:14202 {source="MONDO:equivalentTo"} xref: NCIT:C27313 {source="MONDO:kboom-pr-0.91/0.79/0.43", source="MONDO:equivalentTo"} xref: SCTID:402425006 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} @@ -27818,7 +28128,7 @@ xref: ICD9:519.19 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C35314 {source="MONDO:otherHierarchy", source="DOID:14224"} xref: SCTID:81089005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14224", source="MONDO:equivalentTo"} xref: UMLS:C0264324 {source="DOID:14224", source="MONDO:equivalentTo"} -is_a: MONDO:0002567 {source="DOID:14224"} ! tracheal disease +is_a: MONDO:0002567 {source="DOID:14224", source="linkedlifedata"} ! tracheal disease [Term] id: MONDO:0001912 @@ -27860,7 +28170,7 @@ xref: ICD10:H15.05 {source="DOID:14230"} xref: ICD9:379.04 {source="DOID:14230", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:26664005 {source="DOID:14230", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155354 {source="DOID:14230", source="MONDO:equivalentTo"} -is_a: MONDO:0001269 {source="DOID:14230"} ! scleral disease +is_a: MONDO:0001269 {source="DOID:14230", source="linkedlifedata/inferred"} ! scleral disease is_a: MONDO:0040699 {source="http://eyewiki.aao.org/Scleritis"} ! necrotizing scleritis [Term] @@ -27903,6 +28213,7 @@ is_a: MONDO:0018077 {source="DOID:14239", source="ICD10:A21.3"} ! tularemia id: MONDO:0001917 name: chronic perichondritis of pinna def: "Chronic form of perichondritis of auricle." [MONDO:patterns/chronic] +synonym: "chronic perichondritis of auricle" EXACT [MONDO:design_pattern] synonym: "chronic perichondritis of pinna (disorder)" EXACT [DOID:14243, SCTID:45431004] synonym: "chronic pinna perichondritis" EXACT [DOID:14243, SCTID:194195009] synonym: "perichondritis of auricle, chronic" EXACT [MONDO:patterns/chronic] @@ -27957,7 +28268,7 @@ xref: SCTID:194284006 {source="DOID:14247"} xref: SCTID:232253005 {source="DOID:14247"} xref: SCTID:38394007 {source="MONDO:kboom-pr-0.95/0.76/1.99", source="DOID:14247", source="MONDO:equivalentTo"} xref: UMLS:C0271454 {source="DOID:14247", source="MONDO:equivalentTo", source="NCIT:C128386"} -is_a: MONDO:0005441 {source="MONDO:Redundant", source="NCIT:C128386", source="linkedlifedata"} ! otitis media (disease) +is_a: MONDO:0005441 {source="DOID:14247/inferred", source="MONDO:Redundant", source="NCIT:C128386", source="linkedlifedata", source="linkedlifedata/inferred"} ! otitis media (disease) is_a: MONDO:0005975 {source="DOID:14247", source="MONDO:Entailed", source="MONDOLEX:0001920", source="linkedlifedata"} ! suppurative otitis media is_a: MONDO:0021204 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! chronic otitis media intersection_of: MONDO:0005975 ! suppurative otitis media @@ -27990,7 +28301,7 @@ xref: NCIT:C35666 {source="DOID:1425", source="MONDO:kboom-pr-1.00/0.91/29.66", xref: SCTID:266627003 {source="DOID:1425"} xref: SCTID:85884009 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1425", source="MONDO:equivalentTo"} xref: UMLS:C0034223 {source="NCIT:C35666", source="DOID:1425", source="MONDO:equivalentTo"} -is_a: MONDO:0001926 {source="DOID:1425"} ! ureteral disease +is_a: MONDO:0001926 {source="DOID:1425", source="linkedlifedata"} ! ureteral disease is_a: MONDO:0005227 {source="NCIT:C35666"} ! abscess [Term] @@ -28003,7 +28314,7 @@ xref: ICD10:H35.51 {source="DOID:14251", source="MONDO:equivalentTo"} xref: ICD9:362.73 {source="DOID:14251", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:79556007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14251", source="MONDO:equivalentTo"} xref: UMLS:C0154863 {source="DOID:14251", source="MONDO:equivalentTo"} -is_a: MONDO:0019118 {source="DOID:14251", source="linkedlifedata"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="DOID:14251", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy [Term] id: MONDO:0001924 @@ -28012,7 +28323,8 @@ xref: DOID:14252 {source="MONDO:equivalentTo"} xref: ICD10:H35.54 {source="DOID:14252", source="MONDO:equivalentTo"} xref: ICD9:362.76 {source="DOID:14252", source="MONDO:relatedTo"} xref: UMLS:C0154865 {source="DOID:14252"} -is_a: MONDO:0019118 {source="DOID:14252"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="DOID:14252"} ! inherited retinal dystrophy +relationship: disease_has_location UBERON:0001782 ! pigmented layer of retina [Term] id: MONDO:0001925 @@ -28020,7 +28332,7 @@ name: retinal dystrophy in systemic or cerebroretinal lipidoses xref: DOID:14253 {source="MONDO:equivalentTo"} xref: ICD9:362.71 {source="DOID:14253"} xref: UMLS:C0154861 {source="DOID:14253"} -is_a: MONDO:0019118 {source="DOID:14253"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="DOID:14253"} ! inherited retinal dystrophy [Term] id: MONDO:0001926 @@ -28029,13 +28341,14 @@ def: "A non-neoplastic or neoplastic disorder affecting the ureter." [NCIT:P378] synonym: "disease of ureter" EXACT [MONDO:patterns/location_top] synonym: "disorder of ureter" EXACT [MONDO:patterns/location_top] synonym: "ureter disease" EXACT [MONDO:patterns/location] +synonym: "ureter disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:1426 {source="MONDO:equivalentTo"} xref: MESH:D014515 {source="MONDO:ontobio", source="DOID:1426", source="MONDO:equivalentTo"} xref: NCIT:C27148 {source="DOID:1426", source="MONDO:equivalentTo"} xref: SCTID:128073008 {source="MONDO:equivalentTo"} xref: UMLS:C0041954 {source="DOID:1426", source="MONDO:equivalentTo"} xref: UMLS:C0403608 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002118 {source="DOID:1426", source="MESH:D014515", source="MONDO:Entailed"} ! urinary system disease +is_a: MONDO:0002118 {source="DOID:1426", source="MESH:D014515", source="MONDO:Entailed", source="NCIT:C27148", source="linkedlifedata/inferred"} ! urinary system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000056 ! ureter @@ -28064,7 +28377,7 @@ xref: NCIT:C62436 {source="DOID:14265"} xref: SCTID:194995005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.78/0.29"} xref: SCTID:91434003 {source="DOID:14265"} xref: UMLS:C0034088 {source="DOID:14265"} -is_a: MONDO:0003628 {source="DOID:14265", source="NCIT:C50848", source="linkedlifedata"} ! pulmonary valve disease +is_a: MONDO:0003628 {source="DOID:14265", source="NCIT:C50848", source="linkedlifedata", source="linkedlifedata/inferred"} ! pulmonary valve disease [Term] id: MONDO:0001928 @@ -28078,7 +28391,7 @@ xref: NCIT:C35336 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:14269", xref: SCTID:197437002 {source="DOID:14269"} xref: SCTID:69850007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14269", source="MONDO:equivalentTo"} xref: UMLS:C0267924 {source="NCIT:C35336", source="DOID:14269", source="MONDO:equivalentTo"} -is_a: MONDO:0004789 {source="DOID:14269", source="NCIT:C35336", source="linkedlifedata"} ! cholangitis +is_a: MONDO:0004789 {source="DOID:14269", source="NCIT:C35336", source="linkedlifedata", source="linkedlifedata/inferred"} ! cholangitis [Term] id: MONDO:0001929 @@ -28091,7 +28404,7 @@ xref: ICD10:K83.0 {source="DOID:14270", source="MONDO:subClassOf"} xref: NCIT:C35372 {source="DOID:14270", source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} xref: SCTID:26918003 {source="DOID:14270", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0311273 {source="DOID:14270", source="NCIT:C35372", source="MONDO:equivalentTo"} -is_a: MONDO:0004789 {source="DOID:14270", source="NCIT:C35372", source="linkedlifedata"} ! cholangitis +is_a: MONDO:0004789 {source="DOID:14270", source="NCIT:C35372", source="linkedlifedata", source="linkedlifedata/inferred"} ! cholangitis [Term] id: MONDO:0001930 @@ -28133,8 +28446,8 @@ xref: SCTID:198382004 {source="DOID:14275"} xref: SCTID:248861000 {source="DOID:14275", source="MONDO:kboom-pr-1.00/0.80/10.23", source="MONDO:equivalentTo"} xref: SCTID:82614005 {source="DOID:14275"} xref: UMLS:C0156393 {source="DOID:14275", source="MONDO:equivalentTo"} -is_a: MONDO:0002187 {source="DOID:14275", source="linkedlife"} ! vulvar disease -is_a: MONDO:0024236 {source="linkedlife"} ! degenerative disorder +is_a: MONDO:0002187 {source="DOID:14275", source="linkedlifedata"} ! vulvar disease +is_a: MONDO:0024236 {source="linkedlifedata"} ! degenerative disorder [Term] id: MONDO:0001933 @@ -28145,6 +28458,7 @@ synonym: "disorder of endocrine pancreas" EXACT [MONDO:patterns/location_top] synonym: "disorder of islets of langerhans" RELATED [] synonym: "disorder of pancreatic islets" RELATED [] synonym: "endocrine pancreas disease" EXACT [MONDO:patterns/location, NCIT:C27067] +synonym: "endocrine pancreas disease or disorder" EXACT [MONDO:design_pattern] synonym: "endocrine pancreas disorder" EXACT [NCIT:C27067] xref: DOID:1428 {source="MONDO:equivalentTo"} xref: ICD10:E16 {source="DOID:1428"} @@ -28157,8 +28471,8 @@ xref: SCTID:237574003 {source="DOID:1428"} xref: SCTID:267385007 {source="DOID:1428"} xref: UMLS:C0154189 {source="DOID:1428"} xref: UMLS:C0271633 {source="NCIT:C27067", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002356 {source="DOID:1428", source="MONDO:Entailed", source="NCIT:C27067"} ! pancreas disease -is_a: MONDO:0005151 {source="MONDO:Redundant", source="NCIT:C27067", source="linkedlife"} ! endocrine system disease +is_a: MONDO:0002356 {source="DOID:1428", source="MONDO:Entailed", source="NCIT:C27067", source="linkedlifedata"} ! pancreas disease +is_a: MONDO:0005151 {source="DOID:1428/inferred", source="MONDO:Redundant", source="NCIT:C27067", source="linkedlifedata"} ! endocrine system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000016 ! endocrine pancreas @@ -28192,7 +28506,7 @@ xref: SCTID:60730005 {source="DOID:14286"} xref: SCTID:67536000 {source="DOID:14286"} xref: SCTID:77602000 {source="DOID:14286"} xref: UMLS:C0003892 {source="DOID:14286", source="MONDO:equivalentTo"} -is_a: MONDO:0006816 {source="DOID:14286", source="EFO:1001378", source="MESH:D001177", source="linkedlife/inferred"} ! arthropathy +is_a: MONDO:0006816 {source="DOID:14286", source="EFO:1001378", source="MESH:D001177", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! arthropathy relationship: disease_arises_from_feature MONDO:0005071 ! nervous system disorder [Term] @@ -28226,8 +28540,8 @@ xref: SCTID:198378001 {source="DOID:14292"} xref: SCTID:198381006 {source="DOID:14292"} xref: SCTID:51689003 {source="DOID:14292", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0013426 {source="DOID:14292", source="NCIT:C34565", source="MONDO:equivalentTo"} -is_a: MONDO:0002187 {source="DOID:14292", source="NCIT:C34565/inferred", source="linkedlife"} ! vulvar disease -is_a: MONDO:0024236 {source="linkedlife"} ! degenerative disorder +is_a: MONDO:0002187 {source="DOID:14292", source="NCIT:C34565/inferred", source="linkedlifedata"} ! vulvar disease +is_a: MONDO:0024236 {source="linkedlifedata"} ! degenerative disorder [Term] id: MONDO:0001939 @@ -28241,6 +28555,7 @@ synonym: "epithelioid hemangioma of skin (disorder)" EXACT [DOID:14308, SCTID:25 synonym: "epithelioid hemangioma of the skin" EXACT [NCIT:C7393] synonym: "histiocytoid hemangioma of skin" EXACT [NCIT:C7393] synonym: "histiocytoid hemangioma of the skin" EXACT [NCIT:C7393] +synonym: "histiocytoid hemangioma of zone of skin" EXACT [MONDO:design_pattern] synonym: "skin epithelioid hemangioma" EXACT [NCIT:C7393] synonym: "zone of skin histiocytoid hemangioma" EXACT [MONDO:patterns/location] xref: DOID:14308 {source="MONDO:equivalentTo"} @@ -28265,7 +28580,7 @@ xref: MESH:D011001 {source="DOID:14319", source="MONDO:ontobio", source="MONDO:e xref: SCTID:60485005 {source="DOID:14319", source="MONDO:kboom-pr-1.00/0.74/5.94", source="MONDO:equivalentTo"} xref: UMLS:C0032241 {source="DOID:14319", source="MONDO:equivalentTo"} is_a: MONDO:0000986 {source="DOID:14319", source="MESH:D011001"} ! pleurisy -is_a: MONDO:0005249 {source="DOID:14319", source="MESH:D011001", source="linkedlifedata"} ! pneumonia +is_a: MONDO:0005249 {source="DOID:14319", source="MESH:D011001", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumonia relationship: disease_has_feature HP:0002090 ! Pneumonia [Term] @@ -28285,7 +28600,7 @@ xref: SCTID:193698004 {source="DOID:1432"} xref: SCTID:267729001 {source="DOID:1432"} xref: UMLS:C0155020 {source="DOID:1432"} xref: UMLS:C0456909 {source="NCIT:C97109"} -is_a: MONDO:0021084 {source="MESH:D001766", source="MONDO:Entailed", source="NCIT:C97109", source="NCIT:C97109/inferred", source="linkedlife/inferred"} ! vision disorder +is_a: MONDO:0021084 {source="MESH:D001766", source="MONDO:Entailed", source="NCIT:C97109", source="NCIT:C97109/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! vision disorder intersection_of: MONDO:0021084 ! vision disorder intersection_of: disease_has_major_feature HP:0000618 ! Blindness relationship: excluded_subClassOf MONDO:0005283 {source="DOID:1432"} ! retinal disease @@ -28321,7 +28636,7 @@ xref: ICD9:084.2 {source="i2s", source="DOID:14324", source="MONDO:equivalentTo" xref: NCIT:C34799 {source="DOID:14324", source="MONDO:equivalentTo"} xref: SCTID:27618009 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:14324", source="MONDO:equivalentTo"} xref: UMLS:C0024536 {source="DOID:14324", source="MONDO:equivalentTo"} -is_a: MONDO:0005136 {source="DOID:14324", source="linkedlife"} ! malaria +is_a: MONDO:0005136 {source="DOID:14324", source="NCIT:C34799", source="linkedlifedata"} ! malaria [Term] id: MONDO:0001944 @@ -28333,7 +28648,7 @@ xref: DOID:14325 {source="MONDO:equivalentTo"} xref: ICD9:084.5 {source="i2s", source="MONDO:equivalentTo", source="DOID:14325"} xref: SCTID:21070001 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo", source="DOID:14325"} xref: UMLS:C0153121 {source="MONDO:equivalentTo", source="DOID:14325"} -is_a: MONDO:0005136 {source="DOID:14325", source="linkedlife"} ! malaria +is_a: MONDO:0005136 {source="DOID:14325", source="linkedlifedata"} ! malaria [Term] id: MONDO:0001945 @@ -28372,7 +28687,7 @@ xref: NCIT:C113344 {source="MONDO:otherHierarchy/finding", source="DOID:14336"} xref: SCTID:190533004 {source="DOID:14336"} xref: SCTID:37295009 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo", source="DOID:14336"} xref: UMLS:C0154209 {source="MONDO:equivalentTo", source="DOID:14336"} -is_a: MONDO:0001889 {source="DOID:14336", source="ICD10:E28.0", source="linkedlifedata"} ! ovarian dysfunction +is_a: MONDO:0001889 {source="DOID:14336", source="EFO:0009004", source="ICD10:E28.0", source="linkedlifedata"} ! ovarian dysfunction [Term] id: MONDO:0001947 @@ -28391,7 +28706,7 @@ xref: NCIT:C129724 {source="MONDO:equivalentTo"} xref: SCTID:25476006 {source="DOID:14350", source="MONDO:kboom-pr-0.90/0.77/0.29", source="MONDO:equivalentTo"} xref: SCTID:3511005 {source="DOID:14350"} xref: UMLS:C0040150 {source="DOID:14350", source="MONDO:equivalentTo"} -is_a: MONDO:0004126 {source="DOID:14350", source="MESH:D013969", source="linkedlifedata"} ! thyroiditis (disease) +is_a: MONDO:0004126 {source="DOID:14350", source="MESH:D013969", source="NCIT:C129724", source="linkedlifedata", source="linkedlifedata/inferred"} ! thyroiditis (disease) [Term] id: MONDO:0001948 @@ -28432,7 +28747,7 @@ xref: ICD10:H18.71 {source="DOID:1436"} xref: ICD9:371.71 {source="i2s", source="DOID:1436", source="MONDO:equivalentTo"} xref: SCTID:14748007 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1436", source="MONDO:equivalentTo"} xref: UMLS:C0155135 {source="DOID:1436", source="MONDO:equivalentTo"} -is_a: MONDO:0000942 {source="DOID:1436", source="linkedlife/inferred"} ! corneal disease +is_a: MONDO:0000942 {source="DOID:1436", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease [Term] id: MONDO:0001951 @@ -28457,6 +28772,8 @@ synonym: "cancer of parietal lobe" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of parietal lobe" EXACT [DOID:14384, MONDO:patterns/cancer] synonym: "malignant parietal lobe neoplasm" EXACT [MONDO:patterns/cancer] synonym: "parietal lobe cancer" EXACT [MONDO:patterns/location] +synonym: "parietal lobe neoplasm" RELATED [DOID:14384] +synonym: "tumor of Parietal Lobe" EXACT [DOID:14384] xref: COHD:4181481 {source="MONDO:equivalentTo"} xref: DOID:14384 {source="MONDO:equivalentTo"} xref: ICD10:C71.3 {source="DOID:14384", source="MONDO:equivalentTo"} @@ -28562,7 +28879,8 @@ xref: ICD9:357.82 {source="i2s", source="MONDO:equivalentTo", source="DOID:14402 xref: MESH:D011115 {source="MONDO:relatedTo", source="DOID:14402"} xref: SCTID:230594005 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo", source="DOID:14402"} xref: UMLS:C0393851 {source="MONDO:equivalentTo", source="DOID:14402"} -is_a: MONDO:0002336 {source="DOID:14402"} ! inflammatory and toxic neuropathy +is_a: MONDO:0001824 ! polyneuropathy +relationship: excluded_subClassOf MONDO:0002336 {source="DOID:14402"} ! inflammatory and toxic neuropathy [Term] id: MONDO:0001958 @@ -28605,7 +28923,7 @@ xref: ICD9:251.4 {source="DOID:14427", source="i2s", source="MONDO:equivalentTo" xref: SCTID:11178005 {source="DOID:14427", source="MONDO:kboom-pr-1.00/0.80/10.23", source="MONDO:equivalentTo"} xref: SCTID:190442008 {source="DOID:14427"} xref: UMLS:C0154191 {source="DOID:14427", source="MONDO:equivalentTo"} -is_a: MONDO:0001933 {source="DOID:14427"} ! endocrine pancreas disease +is_a: MONDO:0001933 {source="DOID:14427", source="linkedlifedata/inferred"} ! endocrine pancreas disease relationship: disease_disrupts GO:0070091 ! glucagon secretion [Term] @@ -28625,7 +28943,7 @@ xref: ICD10:H66.10 {source="DOID:14435"} xref: ICD9:382.1 {source="i2s", source="MONDO:equivalentTo", source="DOID:14435"} xref: SCTID:87665008 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo", source="DOID:14435"} xref: UMLS:C0155440 {source="MONDO:equivalentTo", source="DOID:14435"} -is_a: MONDO:0005975 {source="DOID:14435", source="MONDOLEX:0001964", source="linkedlifedata"} ! suppurative otitis media +is_a: MONDO:0005975 {source="DOID:14435", source="MONDOLEX:0001964", source="linkedlifedata", source="linkedlifedata/inferred"} ! suppurative otitis media relationship: disease_has_feature HP:0000405 ! Conductive hearing impairment [Term] @@ -28702,7 +29020,7 @@ xref: MESH:D006060 {source="DOID:14449", source="MONDO:ontobio", source="MONDO:e xref: SCTID:205682006 {source="DOID:14449"} xref: SCTID:83579008 {source="DOID:14449", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0018055 {source="DOID:14449", source="MONDO:equivalentTo"} -is_a: MONDO:0019499 {source="DOID:14449", source="linkedlifedata"} ! Turner syndrome +is_a: MONDO:0019499 {source="DOID:14449", source="linkedlifedata", source="linkedlifedata/inferred"} ! Turner syndrome property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2539/gonadal-dysgenesis-mixed xsd:anyURI {source="GARD:0002539"} [Term] @@ -28735,7 +29053,7 @@ xref: SCTID:266399001 {source="DOID:14453"} xref: UMLS:C0015634 {source="DOID:14453", source="NCIT:C34605", source="Orphanet:99906", source="MONDO:equivalentTo", source="ORDO:99906/e"} is_a: MONDO:0004553 {source="DOID:14453"} ! extrinsic allergic alveolitis is_a: MONDO:0020537 {source="Orphanet:99906"} ! occupational allergic alveolitis -is_a: MONDO:0043905 {source="NCIT:C34605"} ! pneumonitis +is_a: MONDO:0043905 {source="NCIT:C34605", source="linkedlifedata/inferred"} ! pneumonitis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6427/farmers-lung xsd:anyURI {source="GARD:0006427"} [Term] @@ -28749,7 +29067,7 @@ xref: SCTID:186305007 {source="DOID:14456"} xref: SCTID:30789005 {source="DOID:14456"} xref: SCTID:427999003 {source="DOID:14456", source="MONDO:equivalentTo"} xref: UMLS:C0302362 {source="DOID:14456", source="MONDO:equivalentTo"} -is_a: MONDO:0005683 {source="DOID:14456"} ! brucellosis +is_a: MONDO:0005683 {source="DOID:14456", source="linkedlifedata"} ! brucellosis relationship: disease_has_feature HP:0003418 ! Back pain relationship: disease_has_feature HP:0009763 ! Limb pain @@ -28765,7 +29083,7 @@ xref: SCTID:186306008 {source="DOID:14457"} xref: SCTID:427795000 {source="MONDO:equivalentTo", source="DOID:14457"} xref: SCTID:9060000 {source="DOID:14457"} xref: UMLS:C0302363 {source="DOID:14457"} -is_a: MONDO:0005683 {source="DOID:14457"} ! brucellosis +is_a: MONDO:0005683 {source="DOID:14457", source="linkedlifedata"} ! brucellosis relationship: disease_has_feature HP:0001824 ! Weight loss relationship: disease_has_feature HP:0002829 ! Arthralgia @@ -28812,7 +29130,7 @@ xref: ICD9:646.80 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D020150 {source="DOID:14483", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:25113000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14483", source="MONDO:equivalentTo"} xref: UMLS:C0264746 {source="DOID:14483", source="MONDO:equivalentTo"} -is_a: MONDO:0001595 {source="DOID:14483", source="linkedlife"} ! choreatic disease +is_a: MONDO:0001595 {source="DOID:14483", source="linkedlifedata"} ! choreatic disease intersection_of: MONDO:0001595 ! choreatic disease intersection_of: MONDO:0024575 ! pregnancy disorder @@ -28906,11 +29224,11 @@ xref: SCTID:58459009 {source="DOID:14504", source="MONDO:equivalentTo"} xref: SCTID:66751000 {source="DOID:14504", source="MONDO:superClassOf"} xref: UMLS:C0028064 {source="DOID:14504", source="NCIT:C61269", source="MONDO:equivalentTo"} xref: UMLS:C0220756 {source="DOID:14504"} -is_a: MONDO:0002561 {source="MESH:D009542/inferred", source="MONDO:Redundant", source="NCIT:C61269", source="linkedlife/inferred"} ! lysosomal storage disease -is_a: MONDO:0006025 {source="linkedlife"} ! autosomal recessive disease +is_a: MONDO:0002561 {source="DOID:14504/inferred", source="MESH:D009542/inferred", source="MONDO:Redundant", source="NCIT:C61269", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lysosomal storage disease +is_a: MONDO:0006025 {source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015531 {source="DOID:14504", source="MESH:D009542"} ! non-Langerhans cell histiocytosis -is_a: MONDO:0019245 {source="MESH:D009542/inferred", source="linkedlife"} ! lysosomal lipid storage disorder -is_a: MONDO:0019255 {source="DOID:14504", source="MESH:D009542", source="NCIT:C61269", source="linkedlife"} ! sphingolipidosis +is_a: MONDO:0019245 {source="DOID:14504/inferred", source="MESH:D009542/inferred", source="linkedlifedata"} ! lysosomal lipid storage disorder +is_a: MONDO:0019255 {source="DOID:14504", source="MESH:D009542", source="NCIT:C61269", source="linkedlifedata"} ! sphingolipidosis [Term] id: MONDO:0001983 @@ -28937,7 +29255,7 @@ xref: SCTID:187014000 {source="MONDO:kboom-pr-0.89/0.76/0.36", source="MONDO:equ xref: SCTID:187018002 {source="DOID:14512"} xref: UMLS:C0006842 {source="MONDO:equivalentTo", source="DOID:14512"} xref: UMLS:C1282977 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002026 {source="DOID:14512", source="linkedlifedata"} ! candidiasis +is_a: MONDO:0002026 {source="DOID:14512", source="linkedlifedata", source="linkedlifedata/inferred"} ! candidiasis [Term] id: MONDO:0001985 @@ -28983,7 +29301,7 @@ xref: SCTID:192804001 {source="DOID:14524"} xref: SCTID:267687006 {source="DOID:14524"} xref: SCTID:45864009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14524", source="MONDO:equivalentTo"} xref: UMLS:C0154669 {source="DOID:14524", source="MONDO:equivalentTo"} -is_a: MONDO:0005559 {source="DOID:14524", source="linkedlifedata"} ! neurodegenerative disease +is_a: MONDO:0005559 {source="DOID:14524", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease [Term] id: MONDO:0001988 @@ -28994,7 +29312,7 @@ xref: ICD9:521.42 {source="DOID:14529"} xref: SCTID:41918006 {source="DOID:14529", source="MONDO:equivalentTo"} xref: SCTID:43079004 {source="DOID:14529"} xref: UMLS:C0266878 {source="DOID:14529", source="MONDO:equivalentTo"} -is_a: MONDO:0001670 {source="DOID:14529"} ! tooth resorption +is_a: MONDO:0001670 {source="DOID:14529", source="linkedlifedata"} ! tooth resorption [Term] id: MONDO:0001989 @@ -29045,7 +29363,7 @@ synonym: "MPNST of the heart" EXACT [NCIT:C5367] xref: DOID:14534 {source="MONDO:equivalentTo"} xref: NCIT:C5367 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo", source="DOID:14534"} xref: UMLS:C1334569 {source="NCIT:C5367", source="MONDO:equivalentTo", source="DOID:14534"} -is_a: MONDO:0001340 {source="MONDO:Redundant", source="NCIT:C5367"} ! heart cancer +is_a: MONDO:0001340 {source="MONDO:Redundant", source="NCIT:C5367", source="NCIT:C5367/inferred"} ! heart cancer is_a: MONDO:0017827 {source="DOID:14534", source="MONDOLEX:0001990", source="NCIT:C5367"} ! malignant peripheral nerve sheath tumor [Term] @@ -29147,8 +29465,8 @@ xref: DOID:14547 {source="MONDO:equivalentTo"} xref: NCIT:C6066 {source="exact-label-match", source="DOID:14547", source="MONDO:equivalentTo"} xref: SCTID:707355002 {source="MONDO:equivalentTo"} xref: UMLS:C1336039 {source="NCIT:C6066", source="DOID:14547", source="MONDO:equivalentTo"} -is_a: MONDO:0001994 {source="DOID:14547", source="MONDO:Entailed", source="NCIT:C6066"} ! sphenoidal sinus cancer -is_a: MONDO:0010150 {source="MONDO:Entailed", source="NCIT:C6066/inferred", source="OWLReasoner:Elk-2018-01-05"} ! head and neck squamous cell carcinoma +is_a: MONDO:0001994 {source="DOID:14547", source="MONDO:Entailed", source="NCIT:C6066", source="linkedlifedata/inferred"} ! sphenoidal sinus cancer +is_a: MONDO:0010150 {source="MONDO:Entailed", source="NCIT:C6066/inferred", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata/inferred"} ! head and neck squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0001724 ! sphenoidal sinus @@ -29185,7 +29503,7 @@ xref: ICD9:377.04 {source="i2s", source="DOID:14555", source="MONDO:equivalentTo xref: MESH:D009901 {source="MONDO:subClassOf", source="DOID:14555"} xref: SCTID:87764000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14555", source="MONDO:equivalentTo"} xref: UMLS:C0152112 {source="DOID:14555", source="MONDO:equivalentTo"} -is_a: MONDO:0002003 {source="DOID:14555", source="linkedlifedata"} ! papilledema +is_a: MONDO:0002003 {source="DOID:14555", source="linkedlifedata", source="linkedlifedata/inferred"} ! papilledema [Term] id: MONDO:0001999 @@ -29219,8 +29537,8 @@ xref: ICD9:320.81 {source="DOID:14559", source="i2s", source="MONDO:equivalentTo xref: SCTID:445059005 {source="MONDO:equivalentTo"} xref: UMLS:C0375197 {source="DOID:14559"} xref: UMLS:C0854214 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006670 {source="DOID:14559", source="MONDO:Entailed", source="linkedlife"} ! bacterial meningitis -is_a: MONDO:0024389 {source="MONDO:Entailed", source="linkedlife"} ! anaerobic bacteria infectious disease +is_a: MONDO:0006670 {source="DOID:14559", source="MONDO:Entailed", source="linkedlifedata"} ! bacterial meningitis +is_a: MONDO:0024389 {source="MONDO:Entailed", source="linkedlifedata"} ! anaerobic bacteria infectious disease intersection_of: MONDO:0004796 ! infectious meningitis intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease @@ -29243,7 +29561,7 @@ xref: SCTID:154662008 {source="DOID:1458"} xref: SCTID:190275002 {source="DOID:1458"} xref: SCTID:27059002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1458", source="MONDO:equivalentTo"} xref: UMLS:C0154157 {source="DOID:1458", source="MONDO:equivalentTo"} -is_a: MONDO:0005420 {source="DOID:1458"} ! hypothyroidism +is_a: MONDO:0005420 {source="DOID:1458", source="linkedlifedata/inferred"} ! hypothyroidism [Term] id: MONDO:0002003 @@ -29271,13 +29589,14 @@ xref: SCTID:423341008 {source="MONDO:kboom-pr-0.74/0.45/0.18", source="DOID:146" xref: SCTID:423488006 {source="DOID:146"} xref: SCTID:73221001 {source="DOID:146", source="MONDO:relatedTo"} xref: UMLS:C0030353 {source="DOID:146"} -is_a: MONDO:0002135 {source="DOID:146", source="MESH:D010211", source="linkedlife/inferred"} ! optic nerve disease +is_a: MONDO:0002135 {source="DOID:146", source="MESH:D010211", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic nerve disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7318/papilledema xsd:anyURI {source="GARD:0007318"} [Term] id: MONDO:0002004 name: atheroembolism of kidney def: "A cholesterol embolism that involves the kidney." [MONDO:patterns/location] +synonym: "cholesterol embolism of kidney" EXACT [MONDO:design_pattern] synonym: "kidney cholesterol embolism" EXACT [MONDO:patterns/location] xref: DOID:1460 {source="MONDO:equivalentTo"} xref: ICD10:I75.81 {source="MONDO:equivalentTo"} @@ -29302,7 +29621,7 @@ xref: DOID:1467 {source="MONDO:equivalentTo"} xref: ICD9:386.31 {source="DOID:1467", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:41674001 {source="DOID:1467", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155504 {source="DOID:1467", source="MONDO:equivalentTo"} -is_a: MONDO:0002008 {source="DOID:1467", source="linkedlifedata"} ! labyrinthitis +is_a: MONDO:0002008 {source="DOID:1467", source="DOID:1467/inferred", source="linkedlifedata"} ! labyrinthitis [Term] id: MONDO:0002007 @@ -29315,6 +29634,7 @@ id: MONDO:0002008 name: labyrinthitis def: "Inflammation of the inner ear. The cause is often not clear. It may be due to a virus, but it can also arise from bacterial infection, head injury, extreme stress, an allergy, or as a reaction to medication." [https://en.wikipedia.org/wiki/Labyrinthitis, NCIT:C128369] comment: Note that DO has distinct classes for both labyrinthitis and otitis interna. These are generally regarded as synonyms. We intentionally make these two classes equivalent. However, the DO class may potentially represent the infectious form, although the sub/superclass relationships are inverted if this is the case. +synonym: "inner ear infection" EXACT [DOID:3930] synonym: "otitis interna" RELATED [https://en.wikipedia.org/wiki/Labyrinthitis] xref: COHD:74052 {source="MONDO:equivalentTo"} xref: DOID:1468 {source="MONDO:equivalentTo"} @@ -29330,8 +29650,8 @@ xref: SCTID:194363004 {source="DOID:1468"} xref: SCTID:194367003 {source="DOID:1468"} xref: SCTID:23919004 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:1468", source="MONDO:equivalentTo"} xref: UMLS:C0022893 {source="DOID:1468", source="NCIT:C128369", source="MONDO:equivalentTo"} -is_a: MONDO:0002467 {source="ICD10:H83.0/inferred", source="MESH:D007762", source="MONDO:Redundant", source="NCIT:C128369", source="linkedlife/inferred"} ! inner ear disease -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0002467 {source="DOID:1468/inferred", source="DOID:3930", source="ICD10:H83.0/inferred", source="MESH:D007762", source="MONDO:Redundant", source="NCIT:C128369", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! inner ear disease +is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001846 ! internal ear relationship: excluded_subClassOf MONDO:0002812 {source="DOID:1468"} ! infectious otitis interna @@ -29370,7 +29690,7 @@ xref: SCTID:370143000 {source="MONDO:kboom-pr-0.88/0.76/0.12", source="MONDO:equ xref: SCTID:66344007 {source="DOID:1470"} xref: UMLS:C0024517 {source="DOID:1470"} xref: UMLS:C0154409 {source="DOID:1470"} -is_a: MONDO:0002050 {source="DOID:1470", source="MESH:D003865", source="linkedlife"} ! depressive disorder +is_a: MONDO:0002050 {source="DOID:1470", source="MESH:D003865", source="linkedlifedata"} ! depressive disorder property_value: confidence "0.23106060606060574" xsd:double [Term] @@ -29431,7 +29751,7 @@ xref: SCTID:42393006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equ xref: UMLS:C0268583 {source="NCIT:C98986", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C1855119 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000688 {source="DOID:14749", source="linkedlifedata"} ! inherited organic acidemia -is_a: MONDO:0019052 {source="MONDO:Redundant", source="NCIT:C98986"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:14749/inferred", source="MONDO:Redundant", source="NCIT:C98986"} ! inborn errors of metabolism [Term] id: MONDO:0002013 @@ -29459,7 +29779,7 @@ xref: SCTID:400178008 {source="DOID:1475", source="MONDO:relatedTo"} xref: SCTID:69044001 {source="DOID:1475"} xref: SCTID:93168006 {source="DOID:1475"} xref: UMLS:C0024221 {source="DOID:1475", source="NCIT:C8965"} -is_a: MONDO:0005165 {source="DOID:1475", source="MONDO:Redundant"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:1475", source="DOID:1475/inferred", source="MONDO:Redundant"} ! benign neoplasm relationship: disease_arises_from_structure CL:0002138 ! endothelial cell of lymphatic vessel relationship: disease_has_location UBERON:0001473 ! lymphatic vessel @@ -29515,7 +29835,8 @@ xref: SCTID:192834006 {source="DOID:14784"} xref: SCTID:37250002 {source="DOID:14784"} xref: SCTID:67761004 {source="MONDO:kboom-pr-0.77/0.44/0.54", source="DOID:14784", source="MONDO:equivalentTo"} xref: UMLS:C0028968 {source="DOID:14784", source="NCIT:C84947", source="MONDO:equivalentTo"} -is_a: MONDO:0005559 {source="DOID:14784", source="MESH:D009849/inferred", source="linkedlifedata"} ! neurodegenerative disease +is_a: MONDO:0005559 {source="DOID:14784", source="MESH:D009849/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease +relationship: disease_shares_features_of MONDO:0000437 ! cerebellar ataxia [Term] id: MONDO:0002018 @@ -29543,6 +29864,7 @@ def: "A disease involving the gingiva." [MONDO:patterns/location_top] synonym: "disease of gingiva" EXACT [MONDO:patterns/location_top] synonym: "disorder of gingiva" RELATED [MONDO:patterns/location_top] synonym: "gingiva disease" EXACT [MONDO:patterns/location] +synonym: "gingiva disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:1483 {source="MONDO:equivalentTo"} xref: MESH:D005882 {source="DOID:1483", source="MONDO:equivalentTo"} xref: SCTID:155642009 {source="DOID:1483"} @@ -29561,6 +29883,8 @@ synonym: "disorder of eye region" EXACT [] synonym: "disorder of orbital region" RELATED [] synonym: "eye and adnexa disease" RELATED [DOID:1492] synonym: "ophthalmological disorder" RELATED [] +synonym: "orbital region disease" EXACT [MONDO:design_pattern] +synonym: "orbital region disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:1492 {source="MONDO:equivalentTo"} xref: ICD10:H00.H59 {source="MONDO:equivalentTo"} xref: ICD10:H35.00 {source="DOID:1492"} @@ -29570,8 +29894,8 @@ xref: SCTID:31411005 {source="DOID:1492"} xref: SCTID:371409005 {source="MONDO:equivalentTo"} xref: SCTID:42873008 {source="DOID:1492"} xref: UMLS:C0004608 {source="DOID:1492"} -is_a: MONDO:0005042 {source="linkedlife"} ! head disease -is_a: MONDO:0024505 {source="MONDO:metaclass"} ! disorder by anatomical region +is_a: MONDO:0005042 {source="linkedlifedata"} ! head disease +is_a: MONDO:0024505 {source="MONDO:metaclass", source="linkedlifedata/inferred"} ! disorder by anatomical region intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0004088 ! orbital region relationship: excluded_subClassOf MONDO:0005128 {source="DOID:1492"} ! sensory system disease @@ -29641,10 +29965,11 @@ xref: SCTID:187024008 {source="DOID:1508"} xref: SCTID:187478002 {source="DOID:1508"} xref: SCTID:78048006 {source="MONDO:kboom-pr-0.91/0.65/1.60", source="DOID:1508", source="MONDO:equivalentTo"} xref: UMLS:C0006840 {source="DOID:1508", source="MONDO:equivalentTo", source="NCIT:C26711"} -is_a: MONDO:0002041 {source="ICD10:B37", source="MESH:D002177", source="MONDO:Redundant", source="NCIT:C26711", source="linkedlifedata"} ! fungal infectious disease +is_a: MONDO:0002041 {source="DOID:1508/inferred", source="ICD10:B37", source="MESH:D002177", source="MONDO:Redundant", source="NCIT:C26711", source="linkedlifedata", source="linkedlifedata/inferred"} ! fungal infectious disease is_a: MONDO:0002312 {source="DOID:1508"} ! opportunistic mycosis intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:1535326 ! Candida +relationship: has_modifier MONDO:0045035 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! opportunistic infectious [Term] id: MONDO:0002027 @@ -29746,7 +30071,7 @@ xref: SCTID:154454005 {source="DOID:1520"} xref: SCTID:269533000 {source="DOID:1520", source="MONDO:kboom-pr-0.96/0.92/0.08", source="MONDO:equivalentTo"} xref: UMLS:C0699790 {source="DOID:1520", source="NCIT:C4910", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C4910/inferred", source="OWLReasoner:Elk-2018-01-05"} ! digestive system carcinoma -is_a: MONDO:0021063 {source="MONDO:Entailed", source="MONDOLEX:0002032", source="NCIT:C4910", source="OWLReasoner:2017", source="linkedlifedata"} ! malignant colon neoplasm +is_a: MONDO:0021063 {source="DOID:1520", source="MONDO:Entailed", source="MONDOLEX:0002032", source="NCIT:C4910", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant colon neoplasm intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001155 ! colon @@ -29788,6 +30113,7 @@ def: "An extranodal lymphoma that arises from the cecum. The majority are B-cell synonym: "caecum lymphoma" EXACT [MONDO:patterns/location] synonym: "cecal lymphoma" EXACT [DOID:1522, NCIT:C5515] synonym: "cecum lymphoma" EXACT [NCIT:C5515] +synonym: "lymphoma of caecum" EXACT [MONDO:design_pattern] synonym: "lymphoma of cecum" EXACT [NCIT:C5515] synonym: "lymphoma of the cecum" EXACT [NCIT:C5515] synonym: "primary cecum lymphoma" EXACT [NCIT:C5515] @@ -29813,9 +30139,9 @@ xref: ICD9:202.80 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4793 {source="DOID:1523", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:133751000119102 {source="DOID:1523", source="MONDO:kboom-pr-0.77/0.38/0.80", source="MONDO:equivalentTo"} xref: UMLS:C0519037 {source="DOID:1523", source="NCIT:C4793", source="MONDO:equivalentTo"} -is_a: MONDO:0004699 {source="MONDO:Entailed", source="NCIT:C4793/inferred", source="OWLReasoner:Elk-2018-01-13", source="linkedlifedata"} ! gastrointestinal lymphoma -is_a: MONDO:0005062 {source="DOID:1523", source="MONDO:Redundant", source="NCIT:C4793/inferred", source="linkedlifedata"} ! lymphoma -is_a: MONDO:0021063 {source="MONDO:Entailed", source="NCIT:C4793", source="OWLReasoner:2017", source="linkedlifedata"} ! malignant colon neoplasm +is_a: MONDO:0004699 {source="MONDO:Entailed", source="NCIT:C4793/inferred", source="OWLReasoner:Elk-2018-01-13", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastrointestinal lymphoma +is_a: MONDO:0005062 {source="DOID:1523", source="MONDO:Redundant", source="NCIT:C4793/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymphoma +is_a: MONDO:0021063 {source="DOID:1523", source="MONDO:Entailed", source="NCIT:C4793", source="OWLReasoner:2017", source="linkedlifedata"} ! malignant colon neoplasm intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0001155 ! colon @@ -29828,19 +30154,20 @@ synonym: "disorder of penis" EXACT [MONDO:patterns/location_top] synonym: "penile disease" EXACT [NCIT:C26846] synonym: "penile disorder" EXACT [NCIT:C26846] synonym: "penis disease" EXACT [MONDO:patterns/location] +synonym: "penis disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:1529 {source="MONDO:equivalentTo"} xref: ICD10:N48.8 {source="DOID:1529"} xref: ICD10:N48.89 {source="DOID:1529"} xref: ICD9:607.8 {source="DOID:1529"} -xref: ICD9:607.89 {source="linkedlife", source="DOID:1529"} -xref: ICD9:607.9 {source="linkedlife"} +xref: ICD9:607.89 {source="linkedlifedata", source="DOID:1529"} +xref: ICD9:607.9 {source="linkedlifedata"} xref: MESH:D010409 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C26846 {source="MONDO:equivalentTo"} xref: SCTID:198558008 {source="DOID:1529"} xref: SCTID:33958003 {source="MONDO:equivalentTo"} xref: UMLS:C0029785 {source="DOID:1529"} xref: UMLS:C0030846 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C26846", source="MONDO:equivalentTo"} -is_a: MONDO:0003150 {source="DOID:1529", source="MESH:D010409", source="MONDO:Entailed", source="NCIT:C26846"} ! male reproductive system disease +is_a: MONDO:0003150 {source="DOID:1529", source="MESH:D010409", source="MONDO:Entailed", source="NCIT:C26846", source="linkedlifedata/inferred"} ! male reproductive system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000989 ! penis @@ -29852,13 +30179,14 @@ synonym: "disease of pleura" EXACT [MONDO:patterns/location_top] synonym: "disorder of pleura" EXACT [DOID:1532, MONDO:patterns/location_top, SCTID:88075009] synonym: "non-neoplastic pleural disease" EXACT [DOID:1532] synonym: "pleura disease" EXACT [MONDO:patterns/location] +synonym: "pleura disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:1532 {source="MONDO:equivalentTo"} xref: ICD9:518.89 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D010995 {source="MONDO:ontobio", source="DOID:1532", source="MONDO:equivalentTo"} xref: NCIT:C26859 {source="DOID:1532", source="MONDO:equivalentTo"} xref: SCTID:88075009 {source="DOID:1532", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0032226 {source="DOID:1532", source="MONDO:equivalentTo"} -is_a: MONDO:0000270 {source="DOID:1532", source="MONDO:Entailed", source="linkedlife/inferred"} ! lower respiratory tract disease +is_a: MONDO:0000270 {source="DOID:1532", source="MONDO:Entailed", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lower respiratory tract disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000977 ! pleura @@ -29923,7 +30251,7 @@ xref: SCTID:187004009 {source="DOID:1563"} xref: SCTID:47382004 {source="DOID:1563", source="MONDO:directSiblingOf"} xref: UMLS:C0011630 {source="DOID:1563", source="MONDO:equivalentTo"} is_a: MONDO:0000254 {source="DOID:1563"} ! cutaneous mycosis -is_a: MONDO:0002041 {source="MESH:D003881", source="MONDO:Redundant"} ! fungal infectious disease +is_a: MONDO:0002041 {source="DOID:1563/inferred", source="MESH:D003881", source="MONDO:Redundant"} ! fungal infectious disease relationship: realized_in_response_to_stimulus NCBITaxon:4751 ! Fungi [Term] @@ -29992,7 +30320,7 @@ xref: SCTID:193934003 {source="DOID:1570"} xref: SCTID:193935002 {source="DOID:1570"} xref: SCTID:62909004 {source="MONDO:kboom-pr-1.00/0.80/9.38", source="DOID:1570", source="MONDO:equivalentTo"} xref: UMLS:C0013592 {source="DOID:1570", source="MONDO:equivalentTo"} -is_a: MONDO:0003382 {source="DOID:1570", source="MESH:D004483", source="linkedlife/inferred"} ! eyelid disease +is_a: MONDO:0003382 {source="DOID:1570", source="MESH:D004483", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! eyelid disease [Term] id: MONDO:0002044 @@ -30046,8 +30374,10 @@ xref: NCIT:C20701 {source="DOID:1574", source="MONDO:otherHierarchy"} xref: SCTID:15167005 {source="DOID:1574", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:304606004 {source="DOID:1574"} xref: UMLS:C0085762 {source="DOID:1574"} -is_a: MONDO:0002491 {source="DOID:1574", source="linkedlifedata"} ! substance abuse +is_a: MONDO:0002491 {source="DOID:1574", source="linkedlifedata", source="linkedlifedata/inferred"} ! substance abuse is_a: MONDO:0021698 {source="MESH:D000437"} ! alcohol-related disorders +intersection_of: MONDO:0002491 ! substance abuse +intersection_of: realized_in_response_to ECTO:0001082 ! alcohol consumption related exposure [Term] id: MONDO:0002047 @@ -30063,8 +30393,8 @@ xref: ICD10:M34.81 {source="DOID:1578"} xref: ICD9:517.2 {source="DOID:1578", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:196133001 {source="DOID:1578", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0339904 {source="DOID:1578", source="MONDO:equivalentTo"} -is_a: MONDO:0005100 {source="DOID:1578", source="MONDOLEX:0002047", source="linkedlife"} ! systemic sclerosis -is_a: MONDO:0005275 {source="linkedlife"} ! lung disease +is_a: MONDO:0005100 {source="DOID:1578", source="MONDOLEX:0002047", source="linkedlifedata"} ! systemic sclerosis +is_a: MONDO:0005275 {source="linkedlifedata"} ! lung disease relationship: disease_has_location UBERON:0002048 ! lung [Term] @@ -30081,7 +30411,7 @@ xref: GARD:0006768 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: NCIT:C3991 {source="MONDO:otherHierarchy", source="DOID:1587", source="MONDO:kboom-pr-0.95/0.83/1.04", source="MONDO:equivalentTo"} xref: SCTID:2897005 {source="DOID:1587"} xref: UMLS:C0272286 {source="DOID:1587", source="NCIT:C3991"} -is_a: MONDO:0002049 {source="DOID:1587"} ! thrombocytopenia +is_a: MONDO:0002049 {source="DOID:1587", source="NCIT:C3991"} ! thrombocytopenia relationship: disease_has_basis_in_disruption_of UBERON:0002405 ! immune system [Term] @@ -30136,18 +30466,23 @@ xref: SCTID:35489007 {source="MONDO:equivalentTo"} xref: SCTID:41006004 {source="DOID:1596"} xref: UMLS:C0011570 {source="DOID:1596", source="NCIT:C2982"} xref: UMLS:CN236658 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005371 {source="DOID:1596", source="ICD10:F32", source="MESH:D003866", source="NCIT:C2982", source="linkedlife"} ! mood disorder +is_a: MONDO:0005371 {source="DOID:1596", source="ICD10:F32", source="MESH:D003866", source="NCIT:C2982", source="linkedlifedata"} ! mood disorder [Term] id: MONDO:0002051 name: integumentary system disease +alt_id: MONDO:0045027 def: "A disease involving the integumental system." [MONDO:DesignPattern] synonym: "disease of integumental system" EXACT [MONDO:patterns/location_top] +synonym: "disorder of integument" RELATED [] synonym: "disorder of integumental system" RELATED [MONDO:patterns/location_top] synonym: "integumental system disease" EXACT [MONDO:patterns/location] +synonym: "integumental system disease or disorder" EXACT [MONDO:design_pattern] synonym: "integumentary disease" EXACT [DOID:16] xref: DOID:16 {source="MONDO:equivalentTo"} -is_a: MONDO:0021199 {source="MONDO:metaclass"} ! disease by anatomical system +xref: SCTID:128598002 {source="MONDO:equivalentTo"} +is_a: MONDO:0021199 {source="DOID:16", source="MONDO:metaclass", source="linkedlifedata"} ! disease by anatomical system +is_a: MONDO:0024505 {source="MONDO:metaclass", source="linkedlifedata", source="linkedlifedata/inferred"} ! disorder by anatomical region intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002416 ! integumental system @@ -30189,8 +30524,8 @@ xref: SCTID:41174002 {source="DOID:1602", source="MONDO:kboom-pr-0.90/0.68/1.13" xref: UMLS:C0024205 {source="MEDGEN:kboom-pr92-c94", source="DOID:1602", source="MONDO:equivalentTo", source="NCIT:C26821"} xref: UMLS:C0154304 {source="MEDGEN:kboom-pr87-c94", source="DOID:1602", source="MONDO:equivalentTo"} xref: UMLS:C0157705 {source="MEDGEN:kboom-pr92-c94", source="DOID:1602", source="MONDO:equivalentTo"} -is_a: MONDO:0004928 {source="DOID:1602", source="MONDO:Entailed", source="NCIT:C26821", source="linkedlifedata"} ! lymph node disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0004928 {source="DOID:1602", source="MONDO:Entailed", source="NCIT:C26821", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymph node disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000029 ! lymph node relationship: disease_arises_from_structure CL:0000542 ! lymphocyte @@ -30233,7 +30568,7 @@ xref: DOID:1616 {source="MONDO:equivalentTo"} xref: NCIT:C5193 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo", source="DOID:1616"} xref: UMLS:C1332492 {source="NCIT:C5193", source="MONDO:equivalentTo", source="DOID:1616"} is_a: MONDO:0000620 {source="DOID:1616", source="NCIT:C5193"} ! breast benign neoplasm -is_a: MONDO:0003448 {source="NCIT:C5193"} ! spiradenoma +is_a: MONDO:0003448 {source="NCIT:C5193"} ! benign spiradenoma is_a: MONDO:0021489 {source="MONDO:Entailed", source="NCIT:C5193/inferred", source="OWLReasoner:Elk-2018-01-09"} ! benign neoplasm of sweat gland [Term] @@ -30270,7 +30605,7 @@ xref: UMLS:C0178421 {source="MEDGEN:kboom-pr98-c99", source="DOID:1618", source= xref: UMLS:C0206650 {source="NCIT:C3744", source="MEDGEN:kboom-pr98-c99", source="DOID:1618", source="MONDO:equivalentTo"} xref: UMLS:C0346158 {source="MEDGEN:kboom-pr98-c99", source="DOID:1618", source="MONDO:equivalentTo"} xref: UMLS:C1333137 {source="DOID:1618"} -is_a: MONDO:0000620 {source="DOID:1618", source="linkedlifedata"} ! breast benign neoplasm +is_a: MONDO:0000620 {source="DOID:1618", source="linkedlifedata", source="linkedlifedata/inferred"} ! breast benign neoplasm is_a: MONDO:0021046 {source="NCIT:C3744", source="ONCOTREE:FA"} ! breast fibroepithelial neoplasm [Term] @@ -30278,6 +30613,7 @@ id: MONDO:0002057 name: breast leiomyoma def: "A well-circumscribed benign smooth muscle neoplasm arising from the breast. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C40399] synonym: "breast leiomyoma" EXACT [MONDO:patterns/location, NCIT:C40399] +synonym: "leiomyoma of breast" EXACT [MONDO:design_pattern] xref: DOID:1623 {source="MONDO:equivalentTo"} xref: NCIT:C40399 {source="DOID:1623", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1511317 {source="NCIT:C40399", source="DOID:1623", source="MONDO:equivalentTo"} @@ -30303,15 +30639,9 @@ intersection_of: disease_has_location UBERON:0000310 ! breast [Term] id: MONDO:0002059 -name: breast duct papilloma -def: "A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." [NCIT:P378] -synonym: "duct papilloma of breast (disorder)" EXACT [DOID:1626, SCTID:254848002] -synonym: "papilloma of the breast" EXACT [DOID:1626, NCIT:C3863] -xref: DOID:1626 {source="MONDO:equivalentTo"} -xref: NCIT:C3863 {source="MONDO:directSiblingOf", source="DOID:1626"} -xref: SCTID:254848002 {source="MONDO:kboom-pr-0.93/0.85/0.23", source="DOID:1626", source="MONDO:equivalentTo"} -xref: UMLS:C0238034 {source="DOID:1626"} -is_a: MONDO:0002061 {source="DOID:1626"} ! intraductal papillary breast neoplasm +name: obsolete breast duct papilloma +is_obsolete: true +replaced_by: MONDO:0021097 [Term] id: MONDO:0002060 @@ -30528,7 +30858,7 @@ xref: SCTID:1513001 {source="DOID:166"} xref: SCTID:253076000 {source="DOID:166"} xref: SCTID:404042005 {source="DOID:166", source="MONDO:equivalentTo"} xref: UMLS:C0206094 {source="DOID:166", source="NCIT:C3717", source="MONDO:equivalentTo"} -is_a: MONDO:0005462 {source="NCIT:C3717"} ! primitive neuroectodermal tumor +is_a: MONDO:0005462 {source="MESH:D017600", source="NCIT:C3717"} ! primitive neuroectodermal tumor relationship: excluded_subClassOf MONDO:0000631 {source="DOID:166"} ! bone benign neoplasm [Term] @@ -30591,7 +30921,7 @@ xref: SCTID:201494002 {source="DOID:1670"} xref: SCTID:267884002 {source="DOID:1670"} xref: SCTID:62918002 {source="MONDO:kboom-pr-1.00/0.78/7.14", source="DOID:1670", source="MONDO:equivalentTo"} xref: UMLS:C0157770 {source="DOID:1670", source="MONDO:equivalentTo"} -is_a: MONDO:0006816 {source="DOID:1670", source="linkedlife/inferred"} ! arthropathy +is_a: MONDO:0006816 {source="DOID:1670", source="NCIT:C35225", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! arthropathy [Term] id: MONDO:0002075 @@ -30603,7 +30933,7 @@ xref: ICD9:512.0 {source="DOID:1672", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:196102003 {source="DOID:1672", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:76537003 {source="DOID:1672"} xref: UMLS:C0155907 {source="DOID:1672", source="MONDO:equivalentTo"} -is_a: MONDO:0002076 {source="DOID:1672", source="linkedlifedata"} ! pneumothorax (disease) +is_a: MONDO:0002076 {source="DOID:1672", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumothorax (disease) [Term] id: MONDO:0002076 @@ -30624,7 +30954,7 @@ xref: SCTID:266367007 {source="DOID:1673"} xref: SCTID:36118008 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0029850 {source="DOID:1673"} xref: UMLS:C0032326 {source="NCIT:C38006"} -is_a: MONDO:0002037 {source="DOID:1673", source="MESH:D011030"} ! pleural disease +is_a: MONDO:0002037 {source="DOID:1673", source="MESH:D011030", source="NCIT:C38006/inferred"} ! pleural disease [Term] id: MONDO:0002077 @@ -30638,7 +30968,7 @@ xref: SCTID:198898004 {source="DOID:1677"} xref: SCTID:198902005 {source="DOID:1677"} xref: SCTID:7792000 {source="DOID:1677", source="MONDO:equivalentTo"} xref: UMLS:C0156617 {source="DOID:1677"} -is_a: MONDO:0005918 {source="DOID:1677"} ! placenta praevia +is_a: MONDO:0005918 {source="DOID:1677", source="linkedlifedata"} ! placenta praevia [Term] id: MONDO:0002078 @@ -30669,7 +30999,7 @@ xref: SCTID:396351009 {source="DOID:1681"} xref: SCTID:59494005 {source="DOID:1681"} xref: SCTID:8352002 {source="DOID:1681"} xref: UMLS:C0018816 {source="DOID:1681", source="MONDO:equivalentTo", source="NCIT:C84482"} -is_a: MONDO:0005453 {source="DOID:1681", source="MESH:D006343", source="NCIT:C84482", source="linkedlifedata"} ! congenital heart disease +is_a: MONDO:0005453 {source="DOID:1681", source="MESH:D006343", source="NCIT:C84482", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital heart disease [Term] id: MONDO:0002079 @@ -30692,6 +31022,7 @@ synonym: "disorder of musculoskeletal system" EXACT [MONDO:patterns/location_top synonym: "musculoskeletal disease" EXACT [DOID:17] synonym: "musculoskeletal disorder" RELATED [] synonym: "musculoskeletal system disease" EXACT [MONDO:patterns/location] +synonym: "musculoskeletal system disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:17 {source="MONDO:equivalentTo"} xref: ICD9:729.99 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D009140 {source="DOID:17", source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -30702,7 +31033,7 @@ xref: SCTID:268142006 {source="DOID:17"} xref: SCTID:274149006 {source="DOID:17"} xref: SCTID:928000 {source="DOID:17", source="MONDO:equivalentTo"} xref: UMLS:C0026857 {source="DOID:17", source="MONDO:equivalentTo"} -is_a: MONDO:0021199 {source="MONDO:Entailed", source="MONDO:metaclass", source="OWLReasoner:Elk-2018-01-09", source="linkedlife"} ! disease by anatomical system +is_a: MONDO:0021199 {source="DOID:17", source="MONDO:Entailed", source="MONDO:metaclass", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! disease by anatomical system intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002204 ! musculoskeletal system @@ -30724,8 +31055,8 @@ xref: ICD9:239.7 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3010 {source="MONDO:equivalentTo"} xref: SCTID:387922007 {source="MONDO:equivalentTo"} xref: UMLS:C0014132 {source="NCIT:C3010"} -is_a: MONDO:0005070 {source="MONDO:Entailed", source="MONDOLEX:0002082", source="NCIT:C3010/inferred", source="OWLReasoner:2017", source="linkedlife/inferred"} ! neoplasm (disease) -is_a: MONDO:0005151 {source="MONDO:Entailed", source="NCIT:C3010", source="linkedlife/inferred"} ! endocrine system disease +is_a: MONDO:0005070 {source="MONDO:Entailed", source="MONDOLEX:0002082", source="NCIT:C3010/inferred", source="OWLReasoner:2017", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! neoplasm (disease) +is_a: MONDO:0005151 {source="MONDO:Entailed", source="NCIT:C3010", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! endocrine system disease intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0002368 ! endocrine gland @@ -30743,8 +31074,9 @@ xref: ICD10:C91.1 {source="DOID:1703"} xref: NCIT:C35424 {source="MONDO:kboom-pr-1.00/0.91/24.53", source="DOID:1703", source="MONDO:equivalentTo"} xref: SCTID:277550009 {source="DOID:1703", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0349631 {source="DOID:1703", source="NCIT:C35424", source="MONDO:equivalentTo"} -is_a: MONDO:0004948 {source="DOID:1703"} ! B-cell chronic lymphocytic leukemia is_a: MONDO:0021058 {source="NCIT:C35424"} ! neoplastic syndrome +relationship: disease_arises_from_feature MONDO:0004948 {source="DOID:1703"} ! B-cell chronic lymphocytic leukemia +relationship: excluded_subClassOf MONDO:0004948 {source="DOID:1703"} ! B-cell chronic lymphocytic leukemia [Term] id: MONDO:0002084 @@ -30777,7 +31109,7 @@ xref: SCTID:254670002 {source="DOID:172", source="MONDO:kboom-pr-1.00/0.92/29.66 xref: SCTID:65540008 {source="DOID:172"} xref: UMLS:C0333992 {source="DOID:172", source="NCIT:C97041", source="MONDO:equivalentTo"} is_a: MONDO:0002093 {source="NCIT:C97041"} ! acanthoma (disease) -is_a: MONDO:0002531 {source="DOID:172", source="MONDO:Redundant", source="NCIT:C97041/inferred", source="linkedlifedata"} ! skin neoplasm +is_a: MONDO:0002531 {source="DOID:172", source="MONDO:Redundant", source="NCIT:C97041/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin neoplasm is_a: MONDO:0021634 {source="MONDO:Entailed", source="NCIT:C97041/inferred", source="OWLReasoner:Elk-2018-01-20"} ! epithelial skin neoplasm [Term] @@ -30804,8 +31136,8 @@ xref: SCTID:187816004 {source="DOID:1725"} xref: SCTID:363492001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"} xref: UMLS:C0153466 {source="DOID:1725"} xref: UMLS:C0153467 {source="NCIT:C3538", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004992 {source="DOID:1725", source="MONDO:Entailed", source="MONDOLEX:0002087", source="linkedlife", source="linkedlife/inferred"} ! cancer -is_a: MONDO:0006901 {source="MONDO:Entailed", source="MONDOLEX:0002087", source="NCIT:C3538", source="OWLReasoner:Elk-2018-01-10"} ! peritoneal neoplasm +is_a: MONDO:0004992 {source="DOID:1725", source="DOID:1725/inferred", source="MONDO:Entailed", source="MONDOLEX:0002087", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! cancer +is_a: MONDO:0006901 {source="MONDO:Entailed", source="MONDOLEX:0002087", source="NCIT:C3538", source="OWLReasoner:Elk-2018-01-10", source="linkedlifedata"} ! peritoneal neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002358 ! peritoneum @@ -30895,8 +31227,8 @@ xref: NCIT:C7725 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1738", s xref: SCTID:424279009 {source="MONDO:kboom-pr-0.78/0.38/0.82", source="DOID:1738", source="MONDO:equivalentTo"} xref: UMLS:C0238197 {source="NCIT:C7725", source="DOID:1738", source="MONDO:equivalentTo"} is_a: MONDO:0001572 {source="DOID:1738", source="MONDO:Entailed", source="NCIT:C7725", source="linkedlifedata"} ! leiomyoma -is_a: MONDO:0003062 {source="MONDO:Redundant", source="NCIT:C7725/inferred", source="OWLReasoner:Elk-2018-01-05"} ! intestinal benign neoplasm -is_a: MONDO:0004251 {source="DOID:1738", source="MONDO:Redundant", source="NCIT:C7725/inferred", source="linkedlifedata"} ! small intestine neoplasm +is_a: MONDO:0003062 {source="MONDO:Redundant", source="NCIT:C7725/inferred", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata/inferred"} ! intestinal benign neoplasm +is_a: MONDO:0004251 {source="DOID:1738", source="MONDO:Redundant", source="NCIT:C7725/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! small intestine neoplasm is_a: MONDO:0021501 {source="MONDO:Entailed", source="NCIT:C7725", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of small intestine intersection_of: MONDO:0001572 ! leiomyoma intersection_of: disease_has_location UBERON:0002108 ! small intestine @@ -30927,6 +31259,7 @@ name: vascular cancer def: "A malignant neoplasm arising from the blood vessels." [NCIT:C8538] comment: Editor note: see also NCIT:C7390 synonym: "blood vessel neoplasm" BROAD [CSP2005:2007-0683, DOID:175, NCIT:C7387] +synonym: "Blood vessel tumor" EXACT [DOID:175] synonym: "blood vessel tumor (morphologic abnormality)" BROAD [DOID:175, SCTID:115235003] synonym: "blood vessel tumors" EXACT [DOID:175] synonym: "blood vessel tumors (morphologic abnormality)" BROAD [DOID:175, SCTID:189862000] @@ -31015,6 +31348,7 @@ synonym: "disorder of seventh cranial nerve" RELATED [] synonym: "disorders of the seventh nerve" RELATED [] synonym: "disorders of the VIIth cranial nerve" RELATED [] synonym: "facial nerve disease" EXACT [MONDO:patterns/location] +synonym: "facial nerve disease or disorder" EXACT [MONDO:design_pattern] synonym: "facial nerve disorder" EXACT [] synonym: "facial neuropathy" RELATED [] xref: DOID:1756 {source="MONDO:equivalentTo"} @@ -31032,8 +31366,8 @@ xref: SCTID:267704007 {source="DOID:1756"} xref: SCTID:422426003 {source="DOID:1756", source="MONDO:equivalentTo"} xref: SCTID:90039006 {source="DOID:1756"} xref: UMLS:C0015464 {source="DOID:1756", source="MONDO:equivalentTo"} -is_a: MONDO:0003569 {source="DOID:1756", source="MESH:D005155", source="MONDO:Entailed", source="linkedlife"} ! cranial nerve neuropathy -is_a: MONDO:0003620 {source="linkedlife"} ! peripheral nervous system disease +is_a: MONDO:0003569 {source="DOID:1756", source="MESH:D005155", source="MONDO:Entailed", source="NCIT:C27594", source="linkedlifedata"} ! cranial nerve neuropathy +is_a: MONDO:0003620 {source="DOID:1756/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral nervous system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001647 ! facial nerve @@ -31071,7 +31405,7 @@ xref: NCIT:C114940 {source="MONDO:equivalentTo"} xref: NCIT:C4784 {source="MONDO:subClassOf", source="DOID:176"} xref: UMLS:C0497243 {source="DOID:176", source="MONDO:equivalentTo"} xref: UMLS:C3898472 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004992 {source="DOID:176", source="MONDOLEX:0002100"} ! cancer +is_a: MONDO:0004992 {source="DOID:176", source="DOID:176/inferred", source="MONDOLEX:0002100"} ! cancer is_a: MONDO:0024757 {source="MONDOLEX:0002100", source="NCIT:C114940"} ! cardiovascular neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0004535 ! cardiovascular system @@ -31108,7 +31442,7 @@ xref: ICD9:239.7 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C5827 {source="DOID:1760", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:126973004 {source="DOID:1760", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1263899 {source="DOID:1760", source="NCIT:C5827", source="MONDO:equivalentTo"} -is_a: MONDO:0002633 {source="MONDO:Entailed", source="NCIT:C5827", source="linkedlifedata"} ! cranial nerve neoplasm +is_a: MONDO:0002633 {source="DOID:1760", source="MONDO:Entailed", source="NCIT:C5827", source="linkedlifedata"} ! cranial nerve neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001647 ! facial nerve @@ -31236,6 +31570,8 @@ synonym: "malignant tumor of Thyroid gland" EXACT [NCIT:C7510] synonym: "malignant tumour of thyroid gland" EXACT [DOID:1781, SCTID:154554008] synonym: "neoplasm of thyroid gland" EXACT [DOID:1781, SCTID:127018007] synonym: "thyroid gland cancer" EXACT [MONDO:patterns/location] +synonym: "Thyroid gland neoplasm" EXACT [DOID:1781] +synonym: "thyroid neoplasm" EXACT [DOID:1781] xref: COHD:4178976 {source="MONDO:equivalentTo"} xref: DOID:1781 {source="MONDO:equivalentTo"} xref: ICD10:C73 {source="DOID:1781"} @@ -31249,7 +31585,7 @@ xref: SCTID:363478007 {source="DOID:1781", source="MONDO:kboom-pr-0.91/0.76/0.62 xref: SCTID:94098005 {source="DOID:1781"} xref: UMLS:C0007115 {source="DOID:1781", source="NCIT:C7510"} xref: UMLS:C0040136 {source="DOID:1781"} -is_a: MONDO:0003240 {source="DOID:1781", source="MONDO:Redundant", source="NCIT:C7510/inferred", source="linkedlifedata"} ! thyroid gland disease +is_a: MONDO:0003240 {source="DOID:1781", source="MONDO:Redundant", source="NCIT:C7510/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! thyroid gland disease is_a: MONDO:0015074 {source="MONDO:Entailed", source="NCIT:C7510", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! thyroid tumor intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002046 ! thyroid gland @@ -31272,6 +31608,7 @@ synonym: "malignant tumor of pituitary gland" EXACT [NCIT:C4769] synonym: "malignant tumor of pituitary gland (disorder)" EXACT [DOID:1785, SCTID:363482009] synonym: "malignant tumor of the pituitary" EXACT [NCIT:C4769] synonym: "malignant tumor of the pituitary gland" EXACT [NCIT:C4769] +synonym: "neoplasm of pituitary gland" EXACT [DOID:1785] synonym: "neoplasm of pituitary gland (disorder)" BROAD [DOID:1785, SCTID:127024001] synonym: "pituitary cancer" EXACT [] synonym: "pituitary gland cancer" EXACT [DOID:1785] @@ -31292,8 +31629,8 @@ xref: SCTID:93964007 {source="DOID:1785"} xref: UMLS:C0032019 {source="DOID:1785", source="MONDO:subClassOf"} xref: UMLS:C0496842 {source="NCIT:C4769", source="DOID:1785", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002071 {source="MONDO:Redundant", source="NCIT:C4769"} ! supratentorial cancer -is_a: MONDO:0003381 {source="DOID:1785", source="MONDO:Redundant", source="NCIT:C4769/inferred", source="linkedlifedata"} ! pituitary gland disease -is_a: MONDO:0017611 {source="NCIT:C4769", source="linkedlife"} ! pituitary tumor +is_a: MONDO:0003381 {source="DOID:1785", source="MONDO:Redundant", source="NCIT:C4769/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! pituitary gland disease +is_a: MONDO:0017611 {source="NCIT:C4769", source="linkedlifedata"} ! pituitary tumor intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000007 ! pituitary gland @@ -31301,8 +31638,8 @@ intersection_of: disease_has_location UBERON:0000007 ! pituitary gland id: MONDO:0002110 name: adrenal rest tumor def: "A benign, testicular or ovarian tumor, derived from adrenal embryonic rest cells. It is composed of hyperplastic adrenal cortical tissue, and it is associated with congenital adrenal hyperplasia." [NCIT:P378] -synonym: "adrenal Rest neoplasm" EXACT [DOID:1786, NCIT:C2860] -synonym: "adrenal Rest tumor" EXACT [NCIT:C2860] +synonym: "adrenal rest neoplasm" EXACT [DOID:1786, NCIT:C2860] +synonym: "adrenal rest tumor" EXACT [NCIT:C2860] xref: DOID:1786 {source="MONDO:equivalentTo"} xref: EFO:1000798 {source="MONDO:equivalentTo"} xref: ICDO:8671/0 {source="NCIT:C2860"} @@ -31311,7 +31648,7 @@ xref: NCIT:C2860 {source="DOID:1786", source="MONDO:kboom-pr-1.00/0.91/29.10", s xref: SCTID:54292009 {source="DOID:1786"} xref: UMLS:C0001630 {source="DOID:1786", source="NCIT:C2860", source="MONDO:equivalentTo"} is_a: MONDO:0000383 {source="NCIT:C2860"} ! benign reproductive system neoplasm -is_a: MONDO:0000627 {source="DOID:1786"} ! benign endocrine neoplasm +relationship: excluded_subClassOf MONDO:0000627 {source="DOID:1786"} ! benign endocrine neoplasm [Term] id: MONDO:0002111 @@ -31329,7 +31666,7 @@ xref: DOID:1789 {source="MONDO:equivalentTo"} xref: NCIT:C7354 {source="MONDO:equivalentTo"} xref: NCIT:C7633 {source="DOID:1789", source="MONDO:subClassOf"} xref: UMLS:C1377610 {source="DOID:1789"} -is_a: MONDO:0006362 {source="MONDO:Entailed", source="MONDO:cjm", source="MONDOLEX:0002112"} ! peritoneal mesothelioma (disease) +is_a: MONDO:0006362 {source="MONDO:Entailed", source="MONDO:cjm", source="MONDOLEX:0002112", source="NCIT:C7354"} ! peritoneal mesothelioma (disease) intersection_of: MONDO:0002373 ! benign mesothelioma intersection_of: disease_has_location UBERON:0002358 ! peritoneum @@ -31360,7 +31697,7 @@ xref: NCIT:C5714 {source="DOID:1792", source="MONDO:equivalentTo"} xref: UMLS:C1335307 {source="NCIT:C5714", source="DOID:1792", source="MONDO:equivalentTo"} is_a: MONDO:0004699 {source="MONDO:Entailed", source="NCIT:C5714"} ! gastrointestinal lymphoma is_a: MONDO:0005062 {source="DOID:1792", source="MONDO:Redundant", source="NCIT:C5714/inferred"} ! lymphoma -is_a: MONDO:0009831 {source="MONDO:Entailed", source="NCIT:C5714"} ! malignant pancreatic neoplasm +is_a: MONDO:0009831 {source="DOID:1792", source="MONDO:Entailed", source="NCIT:C5714"} ! malignant pancreatic neoplasm intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0001264 ! pancreas @@ -31384,6 +31721,7 @@ synonym: "malignant tumor of exocrine pancreas" EXACT [DOID:1795, NCIT:C7430] synonym: "malignant tumor of exocrine pancreas (disorder)" EXACT [DOID:1795, SCTID:255088001] synonym: "malignant tumor of the exocrine pancreas" EXACT [NCIT:C7430] synonym: "pancreatic exocrine tumor" BROAD [DOID:1795] +synonym: "tumor of exocrine pancreas" RELATED [DOID:1795] synonym: "tumor of exocrine pancreas (disorder)" EXACT [DOID:1795, SCTID:254604005] xref: DOID:1795 {source="MONDO:equivalentTo"} xref: NCIT:C7430 {source="MONDO:equivalentTo"} @@ -31429,6 +31767,7 @@ synonym: "disorder of the urinary system" EXACT [] synonym: "non-neoplastic urinary tract disease" EXACT [DOID:18, NCIT:C27599] synonym: "renal disease" EXACT [DOID:18] synonym: "renal system disease" EXACT [MONDO:patterns/location] +synonym: "renal system disease or disorder" EXACT [MONDO:design_pattern] synonym: "urinary disease" RELATED [DOID:18] synonym: "urinary system disease" EXACT [] synonym: "urinary system disorder" RELATED [] @@ -31445,7 +31784,7 @@ xref: NCIT:C27599 {source="DOID:18"} xref: NCIT:C3430 {source="MONDO:equivalentTo"} xref: SCTID:128606002 {source="MONDO:equivalentTo"} xref: UMLS:C1335051 {source="DOID:18", source="MONDO:equivalentTo"} -is_a: MONDO:0021199 {source="MONDO:metaclass"} ! disease by anatomical system +is_a: MONDO:0021199 {source="DOID:18", source="MONDO:metaclass", source="linkedlifedata", source="linkedlifedata/inferred"} ! disease by anatomical system intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001008 ! renal system @@ -31493,7 +31832,7 @@ xref: SCTID:253000007 {source="DOID:1800", source="MONDO:equivalentTo", source=" xref: SCTID:55937004 {source="DOID:1800"} xref: UMLS:C0206695 {source="DOID:1800", source="NCIT:C3773", source="MONDO:equivalentTo"} is_a: MONDO:0004993 {source="DOID:1800", source="MESH:D018278/inferred", source="MONDO:Entailed", source="MONDOLEX:0002120", source="NCIT:C3773"} ! carcinoma -is_a: MONDO:0019496 {source="MESH:D018278", source="MONDO:Entailed", source="NCIT:C3773", source="linkedlife/inferred"} ! neuroendocrine neoplasm +is_a: MONDO:0019496 {source="MESH:D018278", source="MONDO:Entailed", source="NCIT:C3773", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! neuroendocrine neoplasm is_a: MONDO:0021069 {source="MONDO:Entailed", source="MONDOLEX:0002120", source="NCIT:C3773"} ! malignant endocrine neoplasm intersection_of: MONDO:0004993 {source="NCIT:C3773"} ! carcinoma intersection_of: MONDO:0019496 {source="NCIT:C3773"} ! neuroendocrine neoplasm @@ -31531,7 +31870,7 @@ xref: SCTID:203116001 {source="DOID:1803"} xref: SCTID:247378004 {source="DOID:1803"} xref: SCTID:84299009 {source="DOID:1803"} xref: UMLS:C0027813 {source="NCIT:C116381", source="MONDO:equivalentTo", source="DOID:1803"} -is_a: MONDO:0005244 {source="DOID:1803", source="MONDO:Entailed", source="NCIT:C116381", source="linkedlifedata"} ! peripheral neuropathy +is_a: MONDO:0005244 {source="DOID:1803", source="MONDO:Entailed", source="NCIT:C116381", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy intersection_of: MONDO:0005244 ! peripheral neuropathy intersection_of: disease_has_inflammation_site UBERON:0001021 ! nerve @@ -31566,8 +31905,8 @@ xref: ICD9:375.14 {source="DOID:1822", source="i2s", source="MONDO:equivalentTo" xref: SCTID:193979004 {source="DOID:1822"} xref: SCTID:75068001 {source="DOID:1822", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0339121 {source="DOID:1822"} -is_a: MONDO:0001854 {source="DOID:1822", source="linkedlifedata"} ! lacrimal apparatus disease -is_a: MONDO:0024624 {source="linkedlife"} ! atrophy of lacrimal gland +is_a: MONDO:0001854 {source="DOID:1822", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease +is_a: MONDO:0024624 {source="linkedlifedata"} ! atrophy of lacrimal gland [Term] id: MONDO:0002125 @@ -31615,7 +31954,7 @@ xref: MESH:D014525 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:76618002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0029752 {source="DOID:1829"} xref: UMLS:C0041974 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001556 {source="DOID:1829", source="MESH:D014525", source="linkedlifedata"} ! urethral obstruction (disease) +is_a: MONDO:0001556 {source="DOID:1829", source="MESH:D014525", source="linkedlifedata", source="linkedlifedata/inferred"} ! urethral obstruction (disease) [Term] id: MONDO:0002128 @@ -31633,7 +31972,7 @@ xref: NCIT:C70938 {source="DOID:1835", source="MONDO:kboom-pr-1.00/0.87/15.87", xref: SCTID:30292005 {source="DOID:1835", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0151295 {source="NCIT:C70938", source="DOID:1835", source="MONDO:equivalentTo"} is_a: MONDO:0003607 {source="DOID:1835"} ! neuritis of upper limb -is_a: MONDO:0005244 {source="MONDO:Redundant", source="NCIT:C70938", source="linkedlifedata"} ! peripheral neuropathy +is_a: MONDO:0005244 {source="DOID:1835/inferred", source="MONDO:Redundant", source="NCIT:C70938", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7056/mononeuritis-multiplex xsd:anyURI {source="GARD:0007056"} [Term] @@ -31689,6 +32028,7 @@ synonym: "forelimb mononeuritis simplex" EXACT [MONDO:patterns/location] synonym: "mononeuritis of upper limb" EXACT [DOID:1844] synonym: "mononeuritis of upper limb (disorder)" EXACT [DOID:1844, SCTID:58850003] synonym: "mononeuritis of upper limb, unspecified" EXACT [DOID:1844, ICD9CM_2006:354.9] +synonym: "mononeuritis simplex of forelimb" EXACT [MONDO:design_pattern] synonym: "mononeuritis upper limb" EXACT [DOID:1844] synonym: "mononeuritis upper limb NOS (disorder)" EXACT [DOID:1844, SCTID:193143008] xref: DOID:1844 {source="MONDO:equivalentTo"} @@ -31739,6 +32079,7 @@ intersection_of: disease_has_location UBERON:0003129 ! skull id: MONDO:0002133 name: chronic rheumatic pericarditis def: "Chronic form of rheumatic pericarditis." [MONDO:patterns/chronic] +synonym: "rheumatic pericarditis, chronic" EXACT [MONDO:design_pattern] xref: COHD:321307 {source="MONDO:equivalentTo"} xref: DOID:1869 {source="MONDO:equivalentTo"} xref: ICD10:I09.2 {source="MONDO:equivalentTo", source="DOID:1869"} @@ -31748,13 +32089,13 @@ xref: SCTID:194719006 {source="DOID:1869"} xref: SCTID:194723003 {source="DOID:1869"} xref: SCTID:78069008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:1869"} xref: UMLS:C0155561 {source="MONDO:equivalentTo", source="DOID:1869"} -is_a: MONDO:0005904 {source="DOID:1869", source="linkedlifedata"} ! pericarditis (disease) +is_a: MONDO:0005904 {source="DOID:1869", source="linkedlifedata", source="linkedlifedata/inferred"} ! pericarditis (disease) intersection_of: MONDO:0024655 ! rheumatic pericarditis intersection_of: has_modifier PATO:0001863 ! chronic [Term] id: MONDO:0002134 -name: physiological sexual dysfunction +name: physiological sexual disorder def: "Physiological disturbances in normal sexual performance in either the male or the female." [MESH:D012735] comment: Editor note: check physiological vs mental synonym: "physiological sexual disorder" RELATED [MESH:D012735] @@ -31770,7 +32111,7 @@ xref: DOID:1876 {source="MONDO:equivalentTo"} xref: ICD10:F52.9 {source="DOID:1876"} xref: ICD10:R37 {source="DOID:1876"} xref: MESH:D012735 {source="DOID:1876", source="MONDO:equivalentTo"} -xref: NCIT:C3347 {source="MONDO:otherHierarchy", source="DOID:1876", source="exact-label-match", source="MONDO:equivalentTo"} +xref: NCIT:C3347 {source="MONDO:otherHierarchy", source="DOID:1876", source="exact-label-match"} xref: SCTID:225723003 {source="DOID:1876"} xref: SCTID:231532002 {source="DOID:1876", source="MONDO:subClassOf"} xref: SCTID:39894007 {source="DOID:1876"} @@ -31778,13 +32119,13 @@ xref: SCTID:56925008 {source="DOID:1876"} xref: SCTID:65655009 {source="DOID:1876"} xref: UMLS:C0549622 {source="NCIT:C3347", source="DOID:1876", source="MONDO:equivalentTo"} is_a: MONDO:0000595 {source="DOID:1876"} ! sexual disorder -relationship: disease_has_basis_in_dysfunction_of UBERON:0000990 ! reproductive system [Term] id: MONDO:0002135 name: optic nerve disease def: "A non-neoplastic or neoplastic disorder affecting the optic nerve (second cranial nerve)." [NCIT:C79698] synonym: "cranial nerve II disease" EXACT [MONDO:patterns/location] +synonym: "cranial nerve II disease or disorder" EXACT [MONDO:design_pattern] synonym: "disease of cranial nerve II" EXACT [MONDO:patterns/location_top] synonym: "disorder of cranial nerve II" RELATED [MONDO:patterns/location_top] synonym: "disorder of the second nerve" EXACT [DOID:1891, SCTID:194037001] @@ -31802,7 +32143,7 @@ xref: SCTID:267741008 {source="DOID:1891"} xref: SCTID:77157004 {source="DOID:1891", source="MONDO:equivalentTo"} xref: UMLS:C0029132 {source="DOID:1891", source="MONDO:equivalentTo"} xref: UMLS:C1533675 {source="NCIT:C79698"} -is_a: MONDO:0003569 {source="DOID:1891", source="MESH:D009901", source="MONDO:Entailed", source="NCIT:C79698", source="linkedlife"} ! cranial nerve neuropathy +is_a: MONDO:0003569 {source="DOID:1891", source="MESH:D009901", source="MONDO:Entailed", source="NCIT:C79698", source="linkedlifedata"} ! cranial nerve neuropathy is_a: MONDO:0021084 {source="OWLReasoner:2017"} ! vision disorder intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000941 ! cranial nerve II @@ -31829,7 +32170,7 @@ xref: ICD9:373.3 {source="DOID:1894"} xref: SCTID:111524003 {source="DOID:1894", source="MONDO:equivalentTo"} xref: SCTID:193919009 {source="DOID:1894"} xref: UMLS:C0155176 {source="DOID:1894", source="MONDO:equivalentTo"} -is_a: MONDO:0004785 {source="DOID:1894"} ! blepharitis +is_a: MONDO:0004785 {source="DOID:1894", source="linkedlifedata/inferred"} ! blepharitis [Term] id: MONDO:0002138 @@ -31842,7 +32183,7 @@ xref: ICD9:373.32 {source="DOID:1895"} xref: ICD9:692.9 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:402249007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1895", source="MONDO:equivalentTo"} xref: UMLS:C0155178 {source="DOID:1895", source="MONDO:equivalentTo"} -is_a: MONDO:0002137 {source="DOID:1895"} ! noninfectious dermatoses of eyelid +is_a: MONDO:0002137 {source="DOID:1895", source="linkedlifedata/inferred"} ! noninfectious dermatoses of eyelid is_a: MONDO:0006525 {source="DOID:1895", source="MONDO:Entailed", source="MONDOLEX:0002138", source="linkedlifedata"} ! allergic contact dermatitis intersection_of: MONDO:0006525 ! allergic contact dermatitis intersection_of: disease_has_location UBERON:0001711 ! eyelid @@ -31888,13 +32229,16 @@ synonym: "malignant fibrous histiocytoma of skin" EXACT [NCIT:C5576] synonym: "malignant fibrous histiocytoma of skin (disorder)" EXACT [DOID:1906, SCTID:404014008] synonym: "malignant fibrous histiocytoma of the skin" EXACT [NCIT:C5576] synonym: "malignant skin fibrous histiocytoma" EXACT [NCIT:C5576] +synonym: "undifferentiated pleomorphic sarcoma of zone of skin" EXACT [MONDO:design_pattern] +synonym: "vaginal melanoma" EXACT [DOID:1906] +synonym: "zone of skin undifferentiated pleomorphic sarcoma" EXACT [MONDO:design_pattern] xref: DOID:1906 {source="MONDO:equivalentTo"} xref: EFO:1000212 {source="MONDO:equivalentTo"} xref: ICD9:171.9 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C5576 {source="DOID:1906", source="MONDO:equivalentTo"} xref: SCTID:404014008 {source="DOID:1906", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1275254 {source="DOID:1906", source="NCIT:C5576", source="MONDO:equivalentTo"} -is_a: MONDO:0002142 {source="MONDOLEX:0002141", source="NCIT:C5576", source="linkedlife"} ! undifferentiated pleomorphic sarcoma +is_a: MONDO:0002142 {source="MONDOLEX:0002141", source="NCIT:C5576", source="linkedlifedata"} ! undifferentiated pleomorphic sarcoma is_a: MONDO:0003363 {source="DOID:1906", source="MONDO:Redundant", source="NCIT:C5576/inferred"} ! malignant dermis tumor is_a: MONDO:0006414 {source="NCIT:C5576"} ! skin sarcoma intersection_of: MONDO:0002142 ! undifferentiated pleomorphic sarcoma @@ -31949,7 +32293,7 @@ xref: SCTID:34360000 {source="DOID:1907"} xref: SCTID:443439001 {source="MONDO:kboom-pr-1.00/0.78/6.68", source="DOID:1907", source="MONDO:equivalentTo"} xref: UMLS:C0279546 {source="NCIT:C114541"} xref: UMLS:C0334463 {source="DOID:1907", source="NCIT:C4247", source="ORDO:2023/e", source="Orphanet:2023"} -is_a: MONDO:0005509 {source="DOID:1907"} ! histiocytoma +is_a: MONDO:0005509 {source="DOID:1907", source="MESH:D051677"} ! histiocytoma is_a: MONDO:0018078 {source="EFO:1001972", source="MONDOLEX:0002142", source="NCIT:C114541/inferred", source="NCIT:C4247/inferred", source="Orphanet:2023"} ! soft tissue sarcoma is_a: MONDO:0021054 {source="Orphanet:2023"} ! bone sarcoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6963/undifferentiated-pleomorphic-sarcoma xsd:anyURI {source="GARD:0006963"} @@ -31975,24 +32319,23 @@ intersection_of: disease_has_location UBERON:0000996 ! vagina [Term] id: MONDO:0002144 name: hyperuricemia (disease) -def: "Elevated blood concentrations of uric acid." [NCIT:P378] synonym: "(blood urate raized) or (hyperuricemia)" EXACT [DOID:1920, SCTID:166733000] synonym: "blood urate raized" EXACT [DOID:1920] synonym: "hyperuricemia" EXACT [MONDO:ambiguous] synonym: "uricacidemia" EXACT [CSP2005:1849-8097, DOID:1920] -xref: DOID:1920 {source="MONDO:equivalentTo"} -xref: EFO:0009104 {source="MONDO:equivalentTo"} -xref: HP:0002149 {source="MONDO:otherHierarchy", source="ontobio"} +xref: DOID:1920 {source="MONDO:obsoleteEquivalent"} +xref: EFO:0009104 {source="MONDO:obsoleteEquivalent"} xref: ICD9:790.6 {source="i2s", source="MONDO:relatedTo"} -xref: MESH:D033461 {source="MONDO:ontobio", source="DOID:1920", source="MONDO:equivalentTo"} +xref: MESH:D033461 {source="MONDO:ontobio", source="MONDO:obsoleteEquivalent", source="DOID:1920"} xref: NCIT:C3961 {source="MONDO:otherHierarchy", source="DOID:1920"} xref: SCTID:144021008 {source="DOID:1920"} xref: SCTID:166733000 {source="DOID:1920"} xref: SCTID:237857006 {source="DOID:1920"} xref: SCTID:271198001 {source="DOID:1920"} -xref: SCTID:35885006 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:1920", source="MONDO:equivalentTo"} -xref: UMLS:C0740394 {source="DOID:1920", source="MONDO:equivalentTo"} -is_a: MONDO:0006504 {source="DOID:1920"} ! acquired metabolic disease +xref: SCTID:35885006 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:obsoleteEquivalent", source="DOID:1920"} +xref: UMLS:C0740394 {source="MONDO:obsoleteEquivalent", source="DOID:1920"} +is_obsolete: true +replaced_by: HP:0002149 [Term] id: MONDO:0002145 @@ -32043,7 +32386,7 @@ xref: OMIM:241100 {source="MONDO:superClassOf", source="DOID:1924"} xref: OMIM:307300 {source="MONDO:superClassOf", source="DOID:1924"} xref: SCTID:48130008 {source="MONDO:kboom-pr-1.00/0.84/14.97", source="MONDO:equivalentTo", source="DOID:1924"} xref: UMLS:C0020619 {source="NCIT:C9227", source="MONDO:equivalentTo", source="DOID:1924"} -is_a: MONDO:0002259 {source="DOID:1924", source="MESH:D007006"} ! gonadal disease +is_a: MONDO:0002259 {source="DOID:1924", source="MESH:D007006", source="NCIT:C9227/inferred"} ! gonadal disease [Term] id: MONDO:0002147 @@ -32073,7 +32416,7 @@ xref: NCIT:C36076 {source="kboom:pr0.77-conf4.77", source="MONDO:equivalentTo"} xref: NCIT:C3674 {source="DOID:193", source="MONDO:subClassOf"} xref: UMLS:C0178830 {source="DOID:193", source="MONDO:subClassOf"} xref: UMLS:C1334618 {source="NCIT:C36076", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004992 {source="DOID:193", source="MONDO:Entailed", source="MONDOLEX:0002149"} ! cancer +is_a: MONDO:0004992 {source="DOID:193", source="DOID:193/inferred", source="MONDO:Entailed", source="MONDOLEX:0002149"} ! cancer is_a: MONDO:0005039 {source="DOID:193", source="MONDO:Redundant", source="NCIT:C36076/inferred"} ! reproductive system disease is_a: MONDO:0006054 {source="MONDO:Entailed", source="NCIT:C36076"} ! reproductive system neoplasm intersection_of: MONDO:0004992 ! cancer @@ -32083,6 +32426,10 @@ intersection_of: disease_has_location UBERON:0000990 ! reproductive system id: MONDO:0002150 name: hypothalamic disease def: "Neoplastic, inflammatory, infectious, and other diseases of the hypothalamus. Clinical manifestations include appetite disorders; autonomic nervous system diseases; sleep disorders; behavioral symptoms related to dysfunction of the limbic system; and neuroendocrine disorders." [MESH:D007027] +synonym: "disease of hypothalamus" EXACT [MONDO:design_pattern] +synonym: "disorder of hypothalamus" EXACT [MONDO:design_pattern] +synonym: "hypothalamus disease" EXACT [MONDO:design_pattern] +synonym: "hypothalamus disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:1931 {source="MONDO:equivalentTo"} xref: ICD9:253.9 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D007027 {source="DOID:1931", source="MONDO:equivalentTo"} @@ -32113,7 +32460,7 @@ xref: SCTID:194105004 {source="DOID:1942"} xref: SCTID:246734002 {source="DOID:1942"} xref: SCTID:74025007 {source="DOID:1942", source="MONDO:equivalentTo"} xref: UMLS:C0152210 {source="DOID:1942", source="MONDO:equivalentTo"} -is_a: MONDO:0003432 {source="DOID:1942"} ! strabismus +is_a: MONDO:0003432 {source="DOID:1942", source="linkedlifedata/inferred"} ! strabismus [Term] id: MONDO:0002153 @@ -32185,7 +32532,7 @@ xref: SCTID:197414008 {source="DOID:1949"} xref: SCTID:20824003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.08"} xref: SCTID:76581006 {source="DOID:1949"} xref: UMLS:C0008325 {source="NCIT:C34465", source="DOID:1949"} -is_a: MONDO:0004789 {source="DOID:1949", source="linkedlifedata"} ! cholangitis +is_a: MONDO:0004789 {source="DOID:1949", source="linkedlifedata", source="linkedlifedata/inferred"} ! cholangitis is_a: MONDO:0005281 {source="MESH:D002764", source="MONDO:Entailed", source="NCIT:C34465/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! gallbladder disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0002110 ! gall bladder @@ -32197,13 +32544,14 @@ def: "A disease involving the fallopian tube." [MONDO:DesignPattern] synonym: "disease of fallopian tube" EXACT [MONDO:patterns/location_top] synonym: "disorder of fallopian tube" RELATED [MONDO:patterns/location_top] synonym: "fallopian tube disease" EXACT [MONDO:patterns/location, NCIT:C26771] +synonym: "fallopian tube disease or disorder" EXACT [MONDO:design_pattern] synonym: "fallopian tube disorder" EXACT [NCIT:C26771] xref: DOID:1962 {source="MONDO:equivalentTo"} xref: MESH:D005184 {source="MONDO:ontobio", source="DOID:1962", source="MONDO:equivalentTo"} xref: NCIT:C26771 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1962", source="MONDO:equivalentTo"} xref: SCTID:128134005 {source="DOID:1962", source="MONDO:kboom-pr-1.00/0.81/11.99", source="MONDO:equivalentTo"} xref: UMLS:C0015556 {source="NCIT:C26771", source="DOID:1962", source="MONDO:equivalentTo"} -is_a: MONDO:0002263 {source="DOID:1962", source="MESH:D005184/inferred", source="MONDO:Entailed", source="NCIT:C26771", source="linkedlife"} ! female reproductive system disease +is_a: MONDO:0002263 {source="DOID:1962", source="MESH:D005184/inferred", source="MONDO:Entailed", source="NCIT:C26771", source="linkedlifedata"} ! female reproductive system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0003889 ! fallopian tube @@ -32235,6 +32583,7 @@ synonym: "malignant tumor of fallopian tube (disorder)" EXACT [DOID:1964, SCTID: synonym: "malignant tumor of fallopian tubes" EXACT [MONDO:0015866] synonym: "malignant tumor of the fallopian tube" EXACT [NCIT:C7480] synonym: "malignant tumour of fallopian tube" EXACT [DOID:1964, SCTID:93794008] +synonym: "neoplasm of fallopian tube" EXACT [DOID:1964] synonym: "neoplasm of fallopian tube (disorder)" EXACT [DOID:1964, SCTID:126916003] synonym: "neoplasm, fallopian tube, malignant" EXACT [NCIT:C7480] synonym: "tubal cancer" EXACT [Orphanet:180242] @@ -32255,7 +32604,7 @@ xref: UMLS:C0015558 {source="DOID:1964", source="MONDO:subClassOf"} xref: UMLS:C0153579 {source="Orphanet:180242", source="NCIT:C7480", source="DOID:1964", source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo", source="ORDO:180242/e"} xref: UMLS:C0238122 {source="Orphanet:180242", source="MONDO:superClassOf"} xref: UMLS:CN200469 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0001416 {source="DOID:1964", source="MONDO:Entailed", source="NCIT:C7480"} ! female reproductive organ cancer +is_a: MONDO:0001416 {source="DOID:1964", source="MONDO:Entailed", source="NCIT:C7480", source="linkedlifedata/inferred"} ! female reproductive organ cancer is_a: MONDO:0015861 {source="Orphanet:180242"} ! rare uterine adnexal tumor is_a: MONDO:0021092 {source="MONDO:Entailed", source="NCIT:C7480", source="OWLReasoner:2017", source="linkedlifedata"} ! fallopian tube neoplasm intersection_of: MONDO:0004992 ! cancer @@ -32266,6 +32615,7 @@ id: MONDO:0002159 name: fallopian tube leiomyosarcoma def: "An aggressive malignant smooth muscle neoplasm, arising from the fallopian tube. It is characterized by a proliferation of neoplastic spindle cells." [NCIT:C40128] synonym: "fallopian tube leiomyosarcoma" EXACT [MONDO:patterns/location, NCIT:C40128] +synonym: "leiomyosarcoma of fallopian tube" EXACT [MONDO:design_pattern] xref: DOID:1965 {source="MONDO:equivalentTo"} xref: NCIT:C40128 {source="DOID:1965", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1517116 {source="DOID:1965", source="MONDO:equivalentTo", source="NCIT:C40128"} @@ -32291,6 +32641,7 @@ replaced_by: MONDO:0006207 id: MONDO:0002162 name: fallopian tube adenosarcoma def: "An extremely rare malignant neoplasm that arises from the fallopian tube and is characterized by the presence of a benign epithelial component and a sarcomatous component." [NCIT:C40125] +synonym: "adenosarcoma of fallopian tube" EXACT [MONDO:design_pattern] synonym: "fallopian tube adenosarcoma" EXACT [MONDO:patterns/location, NCIT:C40125] synonym: "fallopian tube Mullerian adenosarcoma" EXACT [NCIT:C40125] synonym: "fallopian tube mullerian adenosarcoma" EXACT [DOID:1973] @@ -32299,14 +32650,15 @@ xref: DOID:1973 {source="MONDO:equivalentTo"} xref: NCIT:C40125 {source="DOID:1973", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1517121 {source="NCIT:C40125", source="DOID:1973", source="MONDO:equivalentTo"} is_a: MONDO:0005636 {source="DOID:1973", source="MONDO:Entailed", source="NCIT:C40125"} ! adenosarcoma -is_a: MONDO:0006207 {source="DOID:1973"} ! fallopian tube carcinosarcoma intersection_of: MONDO:0005636 ! adenosarcoma intersection_of: disease_has_location UBERON:0003889 ! fallopian tube +relationship: excluded_subClassOf MONDO:0006207 {source="DOID:1973"} ! fallopian tube carcinosarcoma [Term] id: MONDO:0002163 name: thymus lipoma def: "A well-circumscribed tumor of the thymus composed of islands of normal thymic parenchyma and mature adipose tissue. It is not clear if thymolipoma is a neoplastic or non-neoplastic lesion." [NCIT:P378] +synonym: "lipoma of thymus" EXACT [MONDO:design_pattern] synonym: "Thymolipoma" EXACT [DOID:1975, NCIT:C6452] synonym: "Thymolipomatous hamartoma" EXACT [NCIT:C6452] synonym: "thymus lipoma" EXACT [MONDO:patterns/location] @@ -32355,7 +32707,7 @@ xref: MESH:D012004 {source="DOID:1984", source="MONDO:equivalentTo"} xref: NCIT:C3350 {source="DOID:1984", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:126847008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1984", source="MONDO:equivalentTo"} xref: UMLS:C0034885 {source="DOID:1984", source="MONDO:equivalentTo", source="NCIT:C3350"} -is_a: MONDO:0001593 {source="MESH:D012004/inferred", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlife"} ! rectal disease +is_a: MONDO:0001593 {source="MESH:D012004/inferred", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! rectal disease is_a: MONDO:0005335 {source="MESH:D012004", source="NCIT:C3350"} ! colorectal neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001052 ! rectum @@ -32394,7 +32746,7 @@ xref: DOID:1992 {source="MONDO:equivalentTo"} xref: NCIT:C4640 {source="DOID:1992", source="MONDO:equivalentTo"} xref: SCTID:276822007 {source="DOID:1992", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0349539 {source="DOID:1992", source="NCIT:C4640", source="MONDO:equivalentTo"} -is_a: MONDO:0005105 {source="DOID:1992", source="MONDO:Entailed", source="NCIT:C4640/inferred", source="linkedlifedata"} ! melanoma (disease) +is_a: MONDO:0005105 {source="DOID:1992", source="MONDO:Entailed", source="NCIT:C4640/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! melanoma (disease) is_a: MONDO:0006519 {source="DOID:1992", source="NCIT:C4640", source="linkedlifedata"} ! rectal cancer intersection_of: MONDO:0005105 ! melanoma (disease) intersection_of: disease_has_location UBERON:0001052 ! rectum @@ -32432,7 +32784,7 @@ xref: NCIT:C9383 {source="DOID:1996", source="EFO:0005631", source="MONDO:equiva xref: ONCOTREE:READ {source="MONDO:equivalentTo"} xref: SCTID:254582000 {source="DOID:1996", source="EFO:0005631", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.76/2.31"} xref: UMLS:C0149978 {source="NCIT:C9383", source="DOID:1996", source="MONDO:equivalentTo"} -is_a: MONDO:0005008 {source="MONDO:Entailed", source="NCIT:C9383", source="ONCOTREE:READ", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! colorectal adenocarcinoma +is_a: MONDO:0005008 {source="DOID:1996", source="MONDO:Entailed", source="NCIT:C9383", source="ONCOTREE:READ", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! colorectal adenocarcinoma is_a: MONDO:0006519 {source="DOID:1996", source="MONDO:Entailed", source="MONDOLEX:0002169", source="NCIT:C9383/inferred", source="linkedlifedata"} ! rectal cancer intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0001052 ! rectum @@ -32443,6 +32795,7 @@ id: MONDO:0002170 name: chronic eustachian salpingitis def: "Chronic form of otosalpingitis." [MONDO:patterns/chronic] synonym: "chronic eustachian tube salpingitis" EXACT [DOID:1999, SCTID:194269002] +synonym: "chronic otosalpingitis" EXACT [MONDO:design_pattern] synonym: "otosalpingitis, chronic" EXACT [MONDO:patterns/chronic] xref: DOID:1999 {source="MONDO:equivalentTo"} xref: ICD10:H68.02 {source="DOID:1999"} @@ -32478,7 +32831,7 @@ xref: SCTID:189890001 {source="DOID:200"} xref: SCTID:189893004 {source="DOID:200"} xref: SCTID:443790001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:200", source="MONDO:equivalentTo"} xref: UMLS:C0017525 {source="NCIT:C3055", source="DOID:200", source="MONDO:equivalentTo"} -is_a: MONDO:0005070 {source="MESH:D005870/inferred", source="MONDOLEX:0002171", source="NCIT:C3055/inferred", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="DOID:200/inferred", source="MESH:D005870/inferred", source="MONDOLEX:0002171", source="NCIT:C3055/inferred", source="linkedlifedata"} ! neoplasm (disease) [Term] id: MONDO:0002172 @@ -32501,7 +32854,7 @@ xref: SCTID:270491006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:200 xref: SCTID:35349000 {source="DOID:2000"} xref: UMLS:C0155428 {source="DOID:2000", source="MONDO:equivalentTo"} is_a: MONDO:0004866 {source="DOID:2000", source="MONDO:Entailed", source="linkedlifedata"} ! eustachian tube disease -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0002393 ! pharyngotympanic tube @@ -32509,6 +32862,7 @@ intersection_of: disease_has_inflammation_site UBERON:0002393 ! pharyngotympanic id: MONDO:0002173 name: neuroma def: "A tumor that grows from a nerve or is composed of nerve cells and nerve fibers." [NCIT:C3275] +comment: Note that this class represents a grouping of benign neoplasms plus non-neoplastic swellings and growth such as traumatic neuromas. In future it may be split xref: DOID:2001 {source="MONDO:equivalentTo"} xref: ICD9:215.9 {source="i2s", source="MONDO:relatedTo"} xref: ICDO:9570/0 {source="NCIT:C3275"} @@ -32520,7 +32874,10 @@ xref: SCTID:25169009 {source="DOID:2001"} xref: SCTID:274089002 {source="DOID:2001"} xref: SCTID:443892003 {source="DOID:2001", source="MONDO:kboom-pr-1.00/0.84/14.92", source="MONDO:equivalentTo"} xref: UMLS:C0027858 {source="DOID:2001", source="NCIT:C3275", source="MONDO:equivalentTo"} -is_a: MONDO:0000648 {source="DOID:2001"} ! nervous system benign neoplasm +is_a: MONDO:0000001 {source="DOID:2001/inferred", source="NCIT:C3275/inferred"} ! disease or disorder +relationship: disease_has_location UBERON:0001021 ! nerve +relationship: excluded_subClassOf MONDO:0000648 {source="DOID:2001"} ! nervous system benign neoplasm +relationship: excluded_subClassOf MONDO:0002547 {source="MESH:D009463"} ! nerve sheath neoplasm [Term] id: MONDO:0002174 @@ -32553,7 +32910,7 @@ xref: SCTID:193384000 {source="DOID:2007"} xref: SCTID:193392009 {source="DOID:2007"} xref: SCTID:267611002 {source="DOID:2007", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0339436 {source="DOID:2007", source="MONDO:equivalentTo"} -is_a: MONDO:0003004 {source="DOID:2007"} ! macular degeneration +is_a: MONDO:0003004 {source="DOID:2007", source="linkedlifedata"} ! macular degeneration [Term] id: MONDO:0002176 @@ -32564,6 +32921,8 @@ synonym: "connective tissue cancer" EXACT [MONDO:patterns/location] synonym: "connective tissue neoplasm" BROAD [CSP2005:2008-3809, DOID:201] synonym: "malignant connective tissue neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of connective tissue" EXACT [MONDO:patterns/cancer] +synonym: "neoplasm of connective tissues" EXACT [DOID:201] +synonym: "Tumour of connective tissue" EXACT [DOID:201] xref: DOID:201 {source="MONDO:equivalentTo"} xref: MESH:D009372 {source="MONDO:directSiblingOf", source="DOID:201"} xref: SCTID:126598008 {source="MONDO:directSiblingOf", source="DOID:201"} @@ -32592,7 +32951,7 @@ xref: SCTID:154694003 {source="DOID:2018"} xref: SCTID:267477002 {source="DOID:2018"} xref: SCTID:83469008 {source="DOID:2018", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0020459 {source="DOID:2018", source="MONDO:equivalentTo"} -is_a: MONDO:0001933 {source="DOID:2018"} ! endocrine pancreas disease +is_a: MONDO:0001933 {source="DOID:2018", source="linkedlifedata"} ! endocrine pancreas disease is_a: MONDO:0002908 {source="DOID:2018", source="MESH:D006946", source="MONDO:Entailed"} ! glucose metabolism disease intersection_of: MONDO:0002908 ! glucose metabolism disease intersection_of: disease_has_feature HP:0000842 ! Hyperinsulinemia @@ -32611,6 +32970,7 @@ synonym: "malignant placental neoplasm" EXACT [NCIT:C3555] synonym: "malignant placental tumor" EXACT [DOID:2021, NCIT:C3555] synonym: "malignant tumor of placenta" EXACT [NCIT:C3555] synonym: "malignant tumor of the placenta" EXACT [NCIT:C3555] +synonym: "neoplasm of placenta" EXACT [DOID:2021] synonym: "neoplasm of placenta (disorder)" EXACT [DOID:2021, SCTID:126920004] synonym: "placenta cancer" EXACT [MONDO:patterns/location] synonym: "placental cancer" EXACT [CSP2005:2403-0590, DOID:2021] @@ -32669,7 +33029,7 @@ xref: SCTID:416189003 {source="MONDO:kboom-pr-0.88/0.75/0.10", source="DOID:203" xref: SCTID:80400009 {source="DOID:203"} xref: UMLS:C1442903 {source="NCIT:C3029", source="DOID:203", source="MONDO:equivalentTo"} xref: UMLS:C1956089 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0002185 {source="DOID:203", source="linkedlife"} ! hyperostosis +is_a: MONDO:0002185 {source="DOID:203", source="linkedlifedata"} ! hyperostosis [Term] id: MONDO:0002182 @@ -32695,6 +33055,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3857/muscular id: MONDO:0002183 name: enthesopathy def: "A disorder involving the attachment of a tendon or ligament to a bone" [https://en.wikipedia.org/wiki/Enthesopathy] +synonym: "disease of enthesis" EXACT [MONDO:design_pattern] +synonym: "disorder of enthesis" EXACT [MONDO:design_pattern] +synonym: "enthesis disease" EXACT [MONDO:design_pattern] +synonym: "enthesis disease or disorder" EXACT [MONDO:design_pattern] xref: COHD:73008 {source="MONDO:equivalentTo"} xref: DOID:204 {source="MONDO:equivalentTo"} xref: ICD10:M77.9 {source="DOID:204"} @@ -32705,7 +33069,7 @@ xref: SCTID:202890003 {source="DOID:204"} xref: SCTID:23680005 {source="MONDO:kboom-pr-1.00/0.84/14.11", source="DOID:204", source="MONDO:equivalentTo"} xref: SCTID:278525009 {source="DOID:204"} xref: UMLS:C0242490 {source="DOID:204", source="MONDO:equivalentTo"} -is_a: MONDO:0002081 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlife"} ! musculoskeletal system disease +is_a: MONDO:0002081 {source="DOID:204/inferred", source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! musculoskeletal system disease is_a: MONDO:0003900 {source="DOID:204", source="MONDO:Entailed"} ! connective tissue disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0035845 ! enthesis @@ -32776,12 +33140,14 @@ xref: MESH:D014845 {source="DOID:2059", source="MONDO:ontobio", source="MONDO:eq xref: NCIT:C27631 {source="DOID:2059", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: SCTID:5089007 {source="DOID:2059", source="MONDO:equivalentTo"} xref: UMLS:C0042994 {source="DOID:2059", source="NCIT:C27631", source="MONDO:equivalentTo"} -is_a: MONDO:0002263 {source="DOID:2059", source="MESH:D014845", source="NCIT:C27631", source="linkedlife"} ! female reproductive system disease +is_a: MONDO:0002263 {source="DOID:2059", source="MESH:D014845", source="NCIT:C27631", source="linkedlifedata"} ! female reproductive system disease [Term] id: MONDO:0002188 name: vulvar nodular hidradenoma def: "A benign neoplasm that arises from sweat glands in the vulva and is characterized by the presence of lobules composed of epithelial cells with clear cytoplasm." [NCIT:C40312] +synonym: "mammalian vulva nodular hidradenoma" EXACT [MONDO:design_pattern] +synonym: "nodular hidradenoma of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "vulvar nodular hidradenoma" EXACT [NCIT:C40312] xref: DOID:2060 {source="MONDO:equivalentTo"} xref: NCIT:C40312 {source="exact-label-match", source="DOID:2060", source="MONDO:equivalentTo"} @@ -32810,6 +33176,8 @@ is_a: MONDO:0002805 {source="DOID:2061", source="MONDOLEX:0002189", source="NCIT id: MONDO:0002190 name: vulvar syringoma def: "A benign neoplasm that arises from eccrine ducts in the vulva and is characterized by the presence of tubules and cysts which are lined by epithelial cells in the densely fibrotic dermis." [NCIT:C40311] +synonym: "mammalian vulva syringoma" EXACT [MONDO:design_pattern] +synonym: "syringoma of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "vulvar syringoma" EXACT [NCIT:C40311] xref: DOID:2064 {source="MONDO:equivalentTo"} xref: NCIT:C40311 {source="DOID:2064", source="exact-label-match", source="MONDO:equivalentTo"} @@ -32842,6 +33210,7 @@ is_a: MONDO:0002381 {source="DOID:2065", source="NCIT:C3761/inferred"} ! sweat g id: MONDO:0002192 name: vulvar angiokeratoma def: "An uncommon benign lesion in the vulva. It manifests with multiple papular lesions which are purple in color. They are usually asymptomatic. Histologically, there is hyperkeratosis, papillomatosis, and dilated blood vessels in the papillary dermis." [NCIT:P378] +synonym: "angiokeratoma of Fordyce of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "Fordyce angiokeratoma of vulva" EXACT [DOID:2066, SCTID:402841001] synonym: "mammalian vulva angiokeratoma of Fordyce" EXACT [MONDO:patterns/location] xref: DOID:2066 {source="MONDO:equivalentTo"} @@ -32923,7 +33292,7 @@ xref: DOID:2075 {source="MONDO:equivalentTo"} xref: NCIT:C40301 {source="DOID:2075", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1510791 {source="NCIT:C40301", source="DOID:2075", source="MONDO:equivalentTo"} is_a: MONDO:0000626 {source="DOID:2075", source="MONDO:Entailed"} ! vestibular gland benign neoplasm -is_a: MONDO:0000643 {source="MONDO:Redundant", source="NCIT:C40301"} ! vulvar benign neoplasm +is_a: MONDO:0000643 {source="DOID:2075", source="MONDO:Redundant", source="NCIT:C40301"} ! vulvar benign neoplasm is_a: MONDO:0002198 {source="DOID:2075", source="NCIT:C40301"} ! vulvar glandular neoplasm is_a: MONDO:0004972 {source="MONDO:Entailed", source="NCIT:C40301"} ! adenoma intersection_of: MONDO:0004972 ! adenoma @@ -33049,7 +33418,7 @@ xref: SCTID:66191007 {source="MONDO:subClassOf", source="DOID:2092"} xref: UMLS:C0152083 {source="NCIT:C35761", source="DOID:2092", source="MONDO:equivalentTo"} xref: UMLS:C3887596 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0001429 {source="MONDO:Entailed", source="MONDOLEX:0002204", source="linkedlifedata"} ! transient arthropathy -is_a: MONDO:0006816 {source="MONDO:Redundant", source="NCIT:C35761", source="linkedlife/inferred"} ! arthropathy +is_a: MONDO:0006816 {source="DOID:2092", source="MONDO:Redundant", source="NCIT:C35761", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! arthropathy intersection_of: MONDO:0005578 ! arthritis intersection_of: has_modifier HP:0025153 ! Transient @@ -33092,7 +33461,7 @@ xref: SCTID:32272007 {source="DOID:2095"} xref: SCTID:359719004 {source="DOID:2095"} xref: UMLS:C1321904 {source="NCIT:C4810", source="DOID:2095", source="MONDO:equivalentTo"} is_a: MONDO:0002381 {source="MONDO:Entailed", source="NCIT:C4810"} ! sweat gland neoplasm -is_a: MONDO:0002898 {source="MONDO:Entailed", source="NCIT:C4810/inferred", source="OWLReasoner:Elk-2018-01-05"} ! skin cancer +is_a: MONDO:0002898 {source="DOID:2095", source="MONDO:Entailed", source="NCIT:C4810/inferred", source="OWLReasoner:Elk-2018-01-05"} ! skin cancer is_a: MONDO:0006615 {source="DOID:2095", source="MONDO:Redundant"} ! sweat gland disease intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001820 ! sweat gland @@ -33145,7 +33514,7 @@ xref: SCTID:156663001 {source="DOID:210"} xref: SCTID:268090002 {source="DOID:210"} xref: SCTID:55260003 {source="MONDO:kboom-pr-1.00/0.75/6.80", source="DOID:210", source="MONDO:equivalentTo"} xref: UMLS:C0158322 {source="DOID:210", source="MONDO:equivalentTo"} -is_a: MONDO:0002181 {source="DOID:210", source="MONDO:Entailed", source="linkedlife"} ! exostosis +is_a: MONDO:0002181 {source="DOID:210", source="MONDO:Entailed", source="linkedlifedata"} ! exostosis intersection_of: MONDO:0002181 ! exostosis intersection_of: disease_has_location UBERON:0001450 ! calcaneus @@ -33165,6 +33534,7 @@ synonym: "B cell (antibody) deficiencies" EXACT [DOID:2115] synonym: "B-cell deficiency" EXACT [NCIT:C4799] synonym: "B-cell deficiency" RELATED [NCIT:C4799] synonym: "deficiency of humoral immunity" EXACT [NCIT:C4799] +synonym: "Immunoglobulin heavy chain deficiency" EXACT [DOID:2115] synonym: "Immunoglobulin heavy chain deficiency (disorder)" EXACT [DOID:2115, SCTID:234539005] synonym: "immunoglobulin heavy chain deletion" EXACT [DOID:2115] xref: DOID:2115 {source="MONDO:equivalentTo"} @@ -33264,7 +33634,10 @@ synonym: "malignant neoplasm of temporal lobe" EXACT [DOID:2135, MONDO:patterns/ synonym: "malignant neoplasm of temporal lobe (disorder)" EXACT [DOID:2135, SCTID:363468009] synonym: "malignant neoplasm of temporal lobe NOS (disorder)" EXACT [DOID:2135, SCTID:188291000] synonym: "malignant temporal lobe neoplasm" EXACT [MONDO:patterns/cancer] +synonym: "neoplasm of temporal lobe" EXACT [DOID:2135] synonym: "temporal lobe cancer" EXACT [MONDO:patterns/location] +synonym: "temporal lobe neoplasm" RELATED [DOID:2135] +synonym: "tumor of Temporal Lobe" EXACT [DOID:2135] xref: COHD:4180907 {source="MONDO:equivalentTo"} xref: DOID:2135 {source="MONDO:placement-based-on-DOID-graph", source="MONDO:equivalentTo"} xref: ICD10:C71.2 {source="DOID:2135", source="MONDO:equivalentTo"} @@ -33302,8 +33675,9 @@ intersection_of: disease_has_location UBERON:0010145 ! paraurethral gland [Term] id: MONDO:0002220 -name: teeth hard tissue disease +name: tooth hard tissue disease synonym: "disorder of hard tissues of teeth" EXACT [] +synonym: "teeth hard tissue disease" RELATED [DOID:214] synonym: "teeth hard tissue diseases" RELATED [] xref: DOID:214 {source="MONDO:equivalentTo"} xref: ICD10:K03 {source="MONDO:equivalentTo"} @@ -33315,7 +33689,7 @@ xref: SCTID:197505001 {source="DOID:214"} xref: SCTID:46557008 {source="MONDO:equivalentTo"} xref: UMLS:C0029770 {source="DOID:214"} xref: UMLS:C0155926 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} -is_a: MONDO:0006999 {source="DOID:214", source="linkedlife"} ! tooth disease +is_a: MONDO:0006999 {source="DOID:214", source="linkedlifedata"} ! tooth disease [Term] id: MONDO:0002221 @@ -33386,7 +33760,7 @@ xref: DOID:2146 {source="MONDO:equivalentTo"} xref: NCIT:C8267 {source="DOID:2146", source="MONDO:equivalentTo"} xref: SCTID:423627007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2146", source="MONDO:equivalentTo"} xref: UMLS:C0280746 {source="DOID:2146", source="NCIT:C8267", source="MONDO:equivalentTo"} -is_a: MONDO:0005089 {source="DOID:2146", source="MONDO:Redundant", source="NCIT:C8267/inferred", source="linkedlifedata"} ! sarcoma +is_a: MONDO:0005089 {source="DOID:2146", source="MONDO:Redundant", source="NCIT:C8267/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! sarcoma is_a: MONDO:0008170 {source="DOID:2146", source="MONDO:Entailed", source="NCIT:C8267", source="linkedlifedata"} ! ovarian cancer is_a: MONDO:0018078 {source="NCIT:C8267"} ! soft tissue sarcoma intersection_of: MONDO:0005089 ! sarcoma @@ -33405,7 +33779,7 @@ xref: SCTID:186243007 {source="DOID:2148"} xref: SCTID:84194006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0152828 {source="DOID:2148"} xref: UMLS:C0275932 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006002 {source="DOID:2148", source="MONDO:Entailed", source="linkedlifedata"} ! urogenital tuberculosis +is_a: MONDO:0006002 {source="DOID:2148", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! urogenital tuberculosis intersection_of: MONDO:0006002 ! urogenital tuberculosis intersection_of: disease_has_inflammation_site UBERON:0000992 ! ovary @@ -33413,6 +33787,7 @@ intersection_of: disease_has_inflammation_site UBERON:0000992 ! ovary id: MONDO:0002227 name: ovarian lymphoma def: "A lymphoma that affects the ovary. Lymphomatous involvement of the ovary is rare and in approximately half of the cases both ovaries are affected." [NCIT:C40021] +synonym: "lymphoma of ovary" EXACT [MONDO:design_pattern] synonym: "ovarian lymphoma" EXACT [NCIT:C40021] synonym: "ovary lymphoma" EXACT [MONDO:patterns/location] synonym: "primary ovarian lymphoma" EXACT [NCIT:C40021] @@ -33469,7 +33844,7 @@ xref: DOID:2153 {source="MONDO:equivalentTo"} xref: NCIT:C40443 {source="DOID:2153", source="MONDO:equivalentTo"} xref: UMLS:C1518746 {source="NCIT:C40443", source="DOID:2153", source="MONDO:equivalentTo"} is_a: MONDO:0006058 {source="MONDO:Entailed", source="NCIT:C40443"} ! Wilms tumor -is_a: MONDO:0008170 {source="MONDO:Entailed", source="NCIT:C40443"} ! ovarian cancer +is_a: MONDO:0008170 {source="DOID:2153", source="MONDO:Entailed", source="NCIT:C40443"} ! ovarian cancer intersection_of: MONDO:0006058 {source="NCIT:C40443"} ! Wilms tumor intersection_of: disease_has_location UBERON:0000992 {source="NCIT:C40443"} ! ovary @@ -33486,6 +33861,7 @@ def: "A disease involving the nasal cavity." [MONDO:DesignPattern] synonym: "disease of nasal cavity" EXACT [MONDO:patterns/location_top] synonym: "disorder of nasal cavity" EXACT [MONDO:patterns/location_top] synonym: "nasal cavity disease" EXACT [MONDO:patterns/location, NCIT:C27102] +synonym: "nasal cavity disease or disorder" EXACT [MONDO:design_pattern] synonym: "nasal cavity disorder" EXACT [NCIT:C27102] xref: COHD:439407 {source="MONDO:equivalentTo"} xref: DOID:2163 {source="MONDO:equivalentTo"} @@ -33494,8 +33870,8 @@ xref: SCTID:195823002 {source="DOID:2163"} xref: SCTID:232340005 {source="DOID:2163", source="MONDO:equivalentTo"} xref: SCTID:232359007 {source="DOID:2163"} xref: UMLS:C0339820 {source="NCIT:C27102", source="DOID:2163", source="MONDO:equivalentTo"} -is_a: MONDO:0002436 {source="DOID:2163", source="MONDO:Entailed", source="linkedlife"} ! nose disease -is_a: MONDO:0004867 {source="linkedlife"} ! upper respiratory tract disease +is_a: MONDO:0002436 {source="DOID:2163", source="MONDO:Entailed", source="linkedlifedata"} ! nose disease +is_a: MONDO:0004867 {source="DOID:2163/inferred", source="linkedlifedata"} ! upper respiratory tract disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001707 ! nasal cavity @@ -33504,6 +33880,7 @@ id: MONDO:0002233 name: enamel caries def: "A dental caries that involves the enamel." [MONDO:patterns/location] synonym: "dental caries limited to enamel" EXACT [DOID:217, ICD9CM_2006:521.01] +synonym: "dental caries of enamel" EXACT [MONDO:design_pattern] synonym: "enamel dental caries" EXACT [MONDO:patterns/location] synonym: "primary dental caries" EXACT [DOID:217, SCTID:109570002] synonym: "simple dental cavity" EXACT [DOID:217, SCTID:19437001] @@ -33544,7 +33921,7 @@ xref: SCTID:30800001 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2170 xref: SCTID:393596009 {source="DOID:2170"} xref: UMLS:C0042267 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C26911", source="DOID:2170", source="MONDO:equivalentTo"} xref: UMLS:C0042268 {source="DOID:2170"} -is_a: MONDO:0001433 {source="DOID:2170", source="MESH:D014627", source="MONDO:Entailed", source="NCIT:C26911/inferred"} ! vaginal disease +is_a: MONDO:0001433 {source="DOID:2170", source="MESH:D014627", source="MONDO:Entailed", source="NCIT:C26911/inferred", source="linkedlifedata"} ! vaginal disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000996 ! vagina @@ -33569,8 +33946,8 @@ xref: Orphanet:98580 {source="MONDO:equivalentTo"} xref: SCTID:278697001 {source="DOID:2173", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0015424 {source="DOID:2173", source="MONDO:equivalentTo", source="NCIT:C3031", source="Orphanet:98580"} is_a: MONDO:0002531 {source="DOID:2173", source="EFO:1000934", source="MONDO:Entailed"} ! skin neoplasm -is_a: MONDO:0003382 {source="MESH:D005142", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlife"} ! eyelid disease -is_a: MONDO:0005586 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! head and neck neoplasm +is_a: MONDO:0003382 {source="MESH:D005142", source="MONDO:Entailed", source="NCIT:C3031", source="OWLReasoner:2017", source="linkedlifedata"} ! eyelid disease +is_a: MONDO:0005586 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck neoplasm is_a: MONDO:0020151 {source="Orphanet:98580"} ! rare palpebral disease is_a: MONDO:0021220 {source="MONDO:Redundant", source="NCIT:C3031", source="OWLReasoner:Elk-2018-01-09"} ! eye neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) @@ -33611,7 +33988,7 @@ xref: UMLS:C0015414 {source="DOID:2174"} xref: UMLS:C0153632 {source="DOID:2174"} xref: UMLS:C0496836 {source="NCIT:C4767"} is_a: MONDO:0000649 {source="DOID:2174", source="MONDO:Entailed"} ! sensory system cancer -is_a: MONDO:0005328 {source="MESH:D005134", source="MONDO:Redundant", source="NCIT:C4767/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! eye disease +is_a: MONDO:0005328 {source="DOID:2174", source="MESH:D005134", source="MONDO:Redundant", source="NCIT:C4767/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! eye disease is_a: MONDO:0021220 {source="MONDO:Entailed", source="NCIT:C4767", source="OWLReasoner:Elk-2018-01-09"} ! eye neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye @@ -33661,7 +34038,7 @@ xref: SCTID:269539001 {source="DOID:218"} xref: SCTID:363412000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:218", source="MONDO:equivalentTo"} xref: SCTID:93683002 {source="DOID:218"} xref: UMLS:C0153439 {source="DOID:218", source="MONDO:equivalentTo"} -is_a: MONDO:0021063 {source="MONDO:Entailed", source="MONDOLEX:0002238", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! malignant colon neoplasm +is_a: MONDO:0021063 {source="DOID:218", source="MONDO:Entailed", source="MONDOLEX:0002238", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! malignant colon neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001156 ! ascending colon @@ -33676,12 +34053,13 @@ xref: ICD9:251.3 {source="i2s", source="DOID:2181", source="MONDO:equivalentTo"} xref: SCTID:190437000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2181", source="MONDO:equivalentTo"} xref: SCTID:78483000 {source="DOID:2181"} xref: UMLS:C0154190 {source="DOID:2181", source="MONDO:equivalentTo"} -is_a: MONDO:0001933 {source="DOID:2181"} ! endocrine pancreas disease +is_a: MONDO:0001933 {source="DOID:2181", source="linkedlifedata/inferred"} ! endocrine pancreas disease [Term] id: MONDO:0002240 name: acute perichondritis of pinna def: "Acute form of perichondritis of auricle." [MONDO:patterns/acute] +synonym: "acute perichondritis of auricle" EXACT [MONDO:design_pattern] synonym: "acute perichondritis of pinna (disorder)" EXACT [DOID:221, SCTID:45855004] synonym: "perichondritis of auricle, acute" EXACT [MONDO:patterns/acute] xref: COHD:132333 {source="MONDO:equivalentTo"} @@ -33727,7 +34105,7 @@ xref: SCTID:191331006 {source="DOID:2213"} xref: SCTID:191437009 {source="DOID:2213"} xref: SCTID:268884000 {source="DOID:2213"} xref: UMLS:C0019087 {source="DOID:2213"} -is_a: MONDO:0005570 {source="MESH:D006474"} ! hematological system disease +is_a: MONDO:0005570 {source="DOID:2213/inferred", source="MESH:D006474", source="NCIT:C115221/inferred"} ! hematological system disease [Term] id: MONDO:0002244 @@ -33750,7 +34128,7 @@ synonym: "platelet disorder" EXACT [MONDO:cjm] synonym: "thrombocytopathy" RELATED [] xref: MESH:D001791 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:22716005 {source="MONDO:kboom-pr-0.98/0.75/3.46", source="MONDO:equivalentTo"} -is_a: MONDO:0005570 {source="MESH:D001791", source="linkedlife"} ! hematological system disease +is_a: MONDO:0005570 {source="MESH:D001791", source="linkedlifedata"} ! hematological system disease is_a: MONDO:0021197 {source="MONDO:metaclass"} ! disease by cellular component affected is_a: MONDO:0044979 {source="MONDO:metaclass"} ! disease by cell type intersection_of: MONDO:0000001 ! disease or disorder @@ -33823,6 +34201,7 @@ def: "A syndrome which occurs as a result of the occlusion of the basilar artery synonym: "basilar artery syndrome" EXACT [DOID:223, ICD9CM_2006:435.0, NCIT:C34413, SCTID:195197005] synonym: "basilar artery syndrome (disorder)" EXACT [DOID:223, SCTID:64009001] synonym: "basilar artery syndromic disease" EXACT [MONDO:patterns/location] +synonym: "syndromic disease of basilar artery" EXACT [MONDO:design_pattern] xref: COHD:374055 {source="MONDO:equivalentTo"} xref: DOID:223 {source="MONDO:equivalentTo"} xref: ICD9:435.0 {source="DOID:223", source="i2s", source="MONDO:equivalentTo"} @@ -33831,7 +34210,7 @@ xref: NCIT:C34413 {source="DOID:223", source="MONDO:kboom-pr-1.00/0.91/29.55", s xref: SCTID:195197005 {source="DOID:223"} xref: SCTID:64009001 {source="DOID:223", source="MONDO:kboom-pr-0.95/0.83/1.09", source="MONDO:equivalentTo"} xref: UMLS:C0004812 {source="NCIT:C34413", source="DOID:223", source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34413"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:223", source="MONDO:Redundant", source="NCIT:C34413"} ! syndromic disease intersection_of: MONDO:0002254 ! syndromic disease intersection_of: disease_has_location UBERON:0001633 ! basilar artery @@ -33875,7 +34254,7 @@ xref: UMLS:C0001308 {source="DOID:2237"} xref: UMLS:C0019158 {source="NCIT:C3095"} xref: UMLS:C0019189 {source="DOID:2237"} xref: UMLS:C0149519 {source="DOID:2237"} -is_a: MONDO:0005154 {source="DOID:2237", source="MESH:D006505", source="MONDO:Entailed", source="linkedlifedata"} ! liver disease +is_a: MONDO:0005154 {source="DOID:2237", source="MESH:D006505", source="MONDO:Entailed", source="NCIT:C3095/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! liver disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0002107 ! liver relationship: disease_has_feature HP:0002027 {source="Wikidata"} ! Abdominal pain @@ -33965,6 +34344,7 @@ def: "A non-neoplastic or neoplastic disorder that affects the cervix. Represent synonym: "disease of uterine cervix" EXACT [MONDO:patterns/location_top] synonym: "disorder of uterine cervix" RELATED [MONDO:patterns/location_top] synonym: "uterine cervix disease" EXACT [MONDO:patterns/location] +synonym: "uterine cervix disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:2253 {source="MONDO:equivalentTo"} xref: MESH:D002577 {source="DOID:2253", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C40241 {source="DOID:2253", source="MONDO:equivalentTo"} @@ -33974,7 +34354,7 @@ xref: SCTID:266661001 {source="DOID:2253"} xref: SCTID:286988004 {source="DOID:2253"} xref: SCTID:63339007 {source="DOID:2253", source="MONDO:kboom-pr-0.79/0.39/0.91", source="MONDO:equivalentTo"} xref: UMLS:C0007867 {source="DOID:2253", source="MONDO:equivalentTo"} -is_a: MONDO:0002654 {source="DOID:2253", source="MESH:D002577", source="MONDO:Entailed", source="linkedlifedata"} ! uterine disease +is_a: MONDO:0002654 {source="DOID:2253", source="MESH:D002577", source="MONDO:Entailed", source="NCIT:C40241", source="linkedlifedata"} ! uterine disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -33996,7 +34376,7 @@ xref: SCTID:202297005 {source="DOID:227"} xref: SCTID:202323002 {source="DOID:227"} xref: SCTID:36504009 {source="DOID:227"} xref: UMLS:C0003090 {source="DOID:227"} -is_a: MONDO:0006816 {source="DOID:227", source="MESH:D000844"} ! arthropathy +is_a: MONDO:0006816 {source="DOID:227", source="MESH:D000844", source="linkedlifedata"} ! arthropathy [Term] id: MONDO:0002258 @@ -34049,9 +34429,9 @@ xref: UMLS:C0001344 {source="DOID:2275"} xref: UMLS:C0031345 {source="DOID:2275"} xref: UMLS:C0031350 {source="NCIT:C26851", source="DOID:2275", source="MONDO:equivalentTo"} xref: UMLS:C0155824 {source="DOID:2275"} -is_a: MONDO:0004867 {source="DOID:2275", source="linkedlifedata"} ! upper respiratory tract disease +is_a: MONDO:0004867 {source="DOID:2275", source="linkedlifedata", source="linkedlifedata/inferred"} ! upper respiratory tract disease is_a: MONDO:0021059 {source="MONDO:Entailed", source="NCIT:C26851/inferred", source="OWLReasoner:Elk-2018-01-09"} ! head or neck disease/disorder -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000341 ! throat @@ -34062,6 +34442,7 @@ def: "A non-neoplastic or neoplastic disorder that affects the testis or the ova synonym: "disease of gonad" EXACT [MONDO:patterns/location_top] synonym: "disorder of gonad" RELATED [MONDO:patterns/location_top] synonym: "gonad disease" EXACT [MONDO:patterns/location] +synonym: "gonad disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:2277 {source="MONDO:equivalentTo"} xref: MESH:D006058 {source="DOID:2277", source="MONDO:equivalentTo"} xref: NCIT:C26786 {source="DOID:2277", source="MONDO:equivalentTo"} @@ -34091,7 +34472,7 @@ xref: SCTID:267866004 {source="DOID:2282"} xref: SCTID:69741000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2282", source="MONDO:equivalentTo"} xref: UMLS:C0085160 {source="DOID:2282", source="MONDO:equivalentTo"} is_a: MONDO:0006615 {source="DOID:2282", source="MESH:D016575", source="MONDO:Redundant"} ! sweat gland disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000382 ! apocrine sweat gland @@ -34130,6 +34511,7 @@ synonym: "disorder of female genital tract" RELATED [] synonym: "disorder of female reproductive system" RELATED [MONDO:patterns/location_top] synonym: "female reproductive disease" EXACT [DOID:229] synonym: "female reproductive system disease" EXACT [MONDO:patterns/location, NCIT:C27020] +synonym: "female reproductive system disease or disorder" EXACT [MONDO:design_pattern] synonym: "female reproductive system disorder" EXACT [NCIT:C27020] synonym: "gynecological disease" RELATED [] xref: DOID:229 {source="MONDO:equivalentTo"} @@ -34145,8 +34527,8 @@ xref: SCTID:310789003 {source="DOID:229", source="MONDO:equivalentTo"} xref: SCTID:38233001 {source="DOID:229"} xref: UMLS:C0017411 {source="DOID:229"} xref: UMLS:C0236100 {source="NCIT:C27020"} -is_a: MONDO:0005039 {source="DOID:229", source="MONDO:Entailed", source="NCIT:C27020"} ! reproductive system disease -is_a: MONDO:0021199 {source="MONDO:metaclass"} ! disease by anatomical system +is_a: MONDO:0005039 {source="DOID:229", source="MONDO:Entailed", source="NCIT:C27020", source="linkedlifedata", source="linkedlifedata/inferred"} ! reproductive system disease +is_a: MONDO:0021199 {source="DOID:229/inferred", source="MONDO:metaclass", source="linkedlifedata/inferred"} ! disease by anatomical system intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000474 ! female reproductive system @@ -34163,7 +34545,7 @@ xref: ICD9:602.2 {source="DOID:2301", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:29524003 {source="DOID:2301", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0156296 {source="DOID:2301", source="MONDO:equivalentTo"} is_a: MONDO:0003105 {source="DOID:2301", source="linkedlifedata"} ! prostate disease -is_a: MONDO:0024236 {source="linkedlife"} ! degenerative disorder +is_a: MONDO:0024236 {source="linkedlifedata"} ! degenerative disorder [Term] id: MONDO:0002265 @@ -34252,9 +34634,9 @@ xref: SCTID:197010007 {source="DOID:2326"} xref: SCTID:25374005 {source="DOID:2326", source="MONDO:kboom-pr-0.87/0.70/0.38", source="MONDO:equivalentTo"} xref: SCTID:266179001 {source="DOID:2326"} xref: UMLS:C0017160 {source="DOID:2326", source="NCIT:C34632", source="MONDO:equivalentTo"} -is_a: MONDO:0004335 {source="DOID:2326", source="EFO:1001463", source="MESH:D005759", source="MONDO:Redundant", source="NCIT:C34632/inferred", source="linkedlifedata"} ! digestive system disease +is_a: MONDO:0004335 {source="DOID:2326", source="EFO:1001463", source="MESH:D005759", source="MONDO:Redundant", source="NCIT:C34632/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! digestive system disease is_a: MONDO:0005020 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! intestinal disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C34632/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C34632/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000160 ! intestine relationship: disease_has_feature HP:0002013 {source="Wikidata"} ! Vomiting @@ -34270,7 +34652,7 @@ xref: ICD9:008.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C27184 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2327", source="MONDO:equivalentTo"} xref: SCTID:285344007 {source="DOID:2327", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/26.59"} xref: UMLS:C0563238 {source="NCIT:C27184", source="DOID:2327", source="MONDO:equivalentTo"} -is_a: MONDO:0004966 {source="DOID:2327", source="MONDO:Entailed", source="MONDOLEX:0002270", source="NCIT:C27184", source="linkedlifedata"} ! gastritis (disease) +is_a: MONDO:0004966 {source="DOID:2327", source="MONDO:Entailed", source="MONDOLEX:0002270", source="NCIT:C27184", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastritis (disease) intersection_of: MONDO:0004966 ! gastritis (disease) intersection_of: realized_in_response_to_stimulus NCBITaxon:10239 ! Viruses @@ -34291,7 +34673,7 @@ xref: ONCOTREE:COAD {source="MONDO:equivalentTo"} xref: SCTID:255082000 {source="DOID:234"} xref: UMLS:C0338106 {source="NCIT:C4349", source="DOID:234", source="MONDO:equivalentTo"} is_a: MONDO:0002032 {source="DOID:234", source="EFO:1001949", source="MONDO:Entailed", source="MONDOLEX:0002271", source="NCIT:C4349"} ! colon carcinoma -is_a: MONDO:0005008 {source="EFO:1001949", source="MONDO:Entailed", source="NCIT:C4349", source="ONCOTREE:COAD", source="OWLReasoner:2017"} ! colorectal adenocarcinoma +is_a: MONDO:0005008 {source="DOID:234", source="EFO:1001949", source="MONDO:Entailed", source="NCIT:C4349", source="ONCOTREE:COAD", source="OWLReasoner:2017"} ! colorectal adenocarcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0001155 ! colon @@ -34341,7 +34723,7 @@ xref: SCTID:190812003 {source="DOID:2346"} xref: SCTID:267440005 {source="DOID:2346", source="MONDO:kboom-pr-1.00/0.91/27.74", source="MONDO:equivalentTo"} xref: UMLS:C0026471 {source="DOID:2346", source="MONDO:equivalentTo"} is_a: MONDO:0002273 {source="DOID:2346"} ! plasma protein metabolism disease -is_a: MONDO:0004960 {source="linkedlife"} ! monoclonal gammopathy +is_a: MONDO:0004960 {source="linkedlifedata"} ! monoclonal gammopathy [Term] id: MONDO:0002275 @@ -34358,7 +34740,7 @@ xref: NCIT:C35767 {source="DOID:2347", source="MONDO:kboom-pr-1.00/0.92/31.20", xref: SCTID:367108003 {source="DOID:2347"} xref: SCTID:39823006 {source="DOID:2347", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0017327 {source="DOID:2347", source="NCIT:C35767", source="MONDO:equivalentTo"} -is_a: MONDO:0005311 {source="DOID:2347", source="ICD10:I70.91", source="ICD10:I70.91/inferred", source="NCIT:C35767"} ! atherosclerosis +is_a: MONDO:0005311 {source="DOID:2347", source="ICD10:I70.91", source="ICD10:I70.91/inferred", source="NCIT:C35767", source="linkedlifedata"} ! atherosclerosis [Term] id: MONDO:0002276 @@ -34410,8 +34792,8 @@ xref: SCTID:72092001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2349 xref: UMLS:C0003850 {source="NCIT:C34398", source="DOID:2349", source="MONDO:equivalentTo"} xref: UMLS:C0004153 {source="DOID:2348"} xref: UMLS:C3665365 {source="DOID:2348", source="NCIT:C34403", source="MONDO:equivalentTo"} -is_a: MONDO:0000473 {source="DOID:2349", source="NCIT:C34398", source="linkedlife"} ! arterial disorder -is_a: MONDO:0024236 {source="linkedlife"} ! degenerative disorder +is_a: MONDO:0000473 {source="DOID:2348/inferred", source="DOID:2349", source="NCIT:C34398", source="linkedlifedata"} ! arterial disorder +is_a: MONDO:0024236 {source="linkedlifedata"} ! degenerative disorder [Term] id: MONDO:0002278 @@ -34431,6 +34813,7 @@ synonym: "colon neoplasm" EXACT [CSP2005:2010-0360, DOID:235] synonym: "colonic benign neoplasm" RELATED [DOID:235] synonym: "colonic Mass" EXACT [DOID:235, NCIT:C37904] synonym: "colonic tumor" EXACT [DOID:235, NCIT:C2953] +synonym: "neoplasm of colon" EXACT [DOID:235] synonym: "neoplasm of colon (disorder)" EXACT [DOID:235, SCTID:126838000] xref: DOID:235 {source="MONDO:equivalentTo"} xref: ICD9:211.3 {source="i2s", source="MONDO:equivalentTo"} @@ -34441,7 +34824,7 @@ xref: SCTID:126838000 {source="DOID:235"} xref: SCTID:92065004 {source="MONDO:equivalentTo"} xref: UMLS:C0004991 {source="NCIT:C2894", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C0009375 {source="DOID:235", source="MONDO:subClassOf"} -is_a: MONDO:0003062 {source="DOID:235", source="MONDO:Redundant", source="NCIT:C2894/inferred"} ! intestinal benign neoplasm +is_a: MONDO:0003062 {source="DOID:235", source="MONDO:Redundant", source="NCIT:C2894/inferred", source="linkedlifedata/inferred"} ! intestinal benign neoplasm is_a: MONDO:0005401 {source="MONDO:Entailed", source="NCIT:C2894"} ! colonic neoplasm is_a: MONDO:0021444 {source="MONDO:Entailed", source="NCIT:C2894", source="linkedlifedata"} ! benign neoplasm of large intestine intersection_of: MONDO:0005165 ! benign neoplasm @@ -34473,7 +34856,7 @@ xref: SCTID:267504005 {source="DOID:2351"} xref: SCTID:30913008 {source="DOID:2351", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0012715 {source="DOID:2351", source="MONDO:equivalentTo"} is_a: MONDO:0000226 {source="DOID:2351", source="ICD10:E83.1", source="linkedlifedata"} ! mineral metabolism disease -is_a: MONDO:0005066 {source="ICD10:E83.1/inferred", source="MESH:D019189", source="MONDO:Redundant", source="linkedlifedata"} ! metabolic disease +is_a: MONDO:0005066 {source="DOID:2351/inferred", source="ICD10:E83.1/inferred", source="MESH:D019189", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease [Term] id: MONDO:0002280 @@ -34540,7 +34923,7 @@ xref: MESH:D014901 {source="DOID:2366", source="MONDO:equivalentTo"} xref: SCTID:12381007 {source="DOID:2366"} xref: SCTID:417093003 {source="DOID:2366", source="MONDO:equivalentTo"} xref: UMLS:C0043124 {source="DOID:2366"} -is_a: MONDO:0005108 {source="DOID:2366", source="MESH:D014901/inferred", source="MONDO:Redundant"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:2366", source="MESH:D014901/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! viral infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:11082 ! West Nile virus relationship: realized_in_response_to_stimulus NCBITaxon:11082 {source="Wikidata"} ! West Nile virus @@ -34554,7 +34937,7 @@ xref: DOID:2367 {source="MONDO:equivalentTo"} xref: MESH:D019150 {source="DOID:2367", source="MONDO:equivalentTo"} xref: SCTID:230365004 {source="DOID:2367", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0338473 {source="DOID:2367", source="MONDO:equivalentTo"} -is_a: MONDO:0005559 {source="DOID:2367", source="linkedlifedata"} ! neurodegenerative disease +is_a: MONDO:0005559 {source="DOID:2367", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease [Term] id: MONDO:0002284 @@ -34622,6 +35005,7 @@ def: "A disease involving the iris." [MONDO:DesignPattern] synonym: "disease of iris" EXACT [MONDO:patterns/location_top] synonym: "disorder of iris" EXACT [MONDO:patterns/location_top] synonym: "iris disease" EXACT [MONDO:patterns/location] +synonym: "iris disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:240 {source="MONDO:equivalentTo"} xref: MESH:D007499 {source="MONDO:ontobio", source="MONDO:equivalentTo", source="DOID:240"} xref: NCIT:C34737 {source="MONDO:equivalentTo", source="DOID:240"} @@ -34629,7 +35013,7 @@ xref: SCTID:155116005 {source="DOID:240"} xref: SCTID:267719008 {source="DOID:240"} xref: SCTID:85478004 {source="MONDO:equivalentTo", source="DOID:240"} xref: UMLS:C0022078 {source="MONDO:equivalentTo", source="DOID:240"} -is_a: MONDO:0002661 {source="DOID:240", source="MESH:D007499", source="MONDO:Entailed", source="linkedlife"} ! uveal disease +is_a: MONDO:0002661 {source="DOID:240", source="MESH:D007499", source="MONDO:Entailed", source="NCIT:C34737", source="linkedlifedata"} ! uveal disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001769 ! iris @@ -34663,7 +35047,7 @@ xref: SCTID:371979001 {source="DOID:2401", source="MONDO:equivalentTo"} xref: SCTID:93758009 {source="DOID:2401"} xref: UMLS:C0153589 {source="DOID:2401", source="NCIT:C3557", source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"} xref: UMLS:C1333070 {source="DOID:2401", source="MONDO:superClassOf"} -is_a: MONDO:0001528 {source="DOID:2401", source="MONDO:Entailed", source="NCIT:C3557", source="linkedlife"} ! vulva cancer +is_a: MONDO:0001528 {source="DOID:2401", source="MONDO:Entailed", source="NCIT:C3557", source="linkedlifedata"} ! vulva cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002411 ! clitoris @@ -34679,6 +35063,7 @@ synonym: "granular cell skin tumor" EXACT [NCIT:C5617] synonym: "granular cell tumor of skin" EXACT [NCIT:C5617] synonym: "granular cell tumor of skin (disorder)" EXACT [DOID:2410, SCTID:254763007] synonym: "granular cell tumor of the skin" EXACT [NCIT:C5617] +synonym: "granular cell tumor of zone of skin" EXACT [MONDO:design_pattern] synonym: "skin granular cell neoplasm" EXACT [NCIT:C5617] synonym: "skin granular cell tumor" RELATED [DOID:2410] synonym: "zone of skin granular cell tumor" EXACT [MONDO:patterns/location] @@ -34688,7 +35073,7 @@ xref: NCIT:C5617 {source="DOID:2410", source="MONDO:kboom-pr-1.00/0.91/23.83", s xref: SCTID:254763007 {source="DOID:2410", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0346060 {source="NCIT:C5617", source="DOID:2410", source="MONDO:equivalentTo"} is_a: MONDO:0002300 {source="NCIT:C5617"} ! dermis tumor -is_a: MONDO:0006235 {source="MONDO:Entailed", source="MONDOLEX:0002291", source="NCIT:C5617", source="linkedlifedata"} ! granular cell tumor +is_a: MONDO:0006235 {source="DOID:2410", source="MONDO:Entailed", source="MONDOLEX:0002291", source="NCIT:C5617", source="linkedlifedata"} ! granular cell tumor intersection_of: MONDO:0006235 ! granular cell tumor intersection_of: disease_has_location UBERON:0000014 ! zone of skin @@ -34711,7 +35096,7 @@ xref: DOID:2425 {source="MONDO:equivalentTo"} xref: NCIT:C4481 {source="DOID:2425", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:254766004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2425", source="MONDO:equivalentTo"} xref: UMLS:C0346063 {source="DOID:2425", source="NCIT:C4481", source="MONDO:equivalentTo"} -is_a: MONDO:0002531 {source="DOID:2425", source="MONDO:Entailed", source="NCIT:C4481/inferred", source="linkedlife", source="linkedlifedata"} ! skin neoplasm +is_a: MONDO:0002531 {source="DOID:2425", source="MONDO:Entailed", source="NCIT:C4481/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin neoplasm is_a: MONDO:0005033 {source="NCIT:C4481", source="linkedlifedata"} ! ganglioneuroma (disease) [Term] @@ -34738,7 +35123,7 @@ xref: NCIT:C4491 {source="DOID:2430", source="MONDO:kboom-pr-1.00/0.91/26.33", s xref: SCTID:254795008 {source="DOID:2430", source="MONDO:kboom-pr-1.00/0.91/28.13", source="MONDO:equivalentTo"} xref: UMLS:C0346083 {source="NCIT:C4491", source="DOID:2430", source="MONDO:equivalentTo"} is_a: MONDO:0002300 {source="MONDO:Redundant", source="NCIT:C4491"} ! dermis tumor -is_a: MONDO:0018327 {source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C4491", source="linkedlifedata"} ! glomus tumor +is_a: MONDO:0018327 {source="DOID:2430", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C4491", source="linkedlifedata"} ! glomus tumor intersection_of: MONDO:0018327 ! glomus tumor intersection_of: disease_has_location UBERON:0000014 ! zone of skin relationship: excluded_subClassOf MONDO:0002898 {source="DOID:2430"} ! skin cancer @@ -34851,8 +35236,8 @@ xref: DOID:2441 {source="MONDO:equivalentTo"} xref: NCIT:C6067 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2441", source="MONDO:equivalentTo"} xref: SCTID:707356001 {source="MONDO:kboom-pr-0.76/0.38/0.66", source="MONDO:equivalentTo"} xref: UMLS:C1333646 {source="DOID:2441", source="MONDO:equivalentTo", source="NCIT:C6067"} -is_a: MONDO:0001756 {source="DOID:2441", source="MONDO:Entailed", source="NCIT:C6067", source="linkedlifedata"} ! frontal sinus cancer -is_a: MONDO:0010150 {source="MONDO:Entailed", source="NCIT:C6067/inferred", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! head and neck squamous cell carcinoma +is_a: MONDO:0001756 {source="DOID:2441", source="MONDO:Entailed", source="NCIT:C6067", source="linkedlifedata", source="linkedlifedata/inferred"} ! frontal sinus cancer +is_a: MONDO:0010150 {source="MONDO:Entailed", source="NCIT:C6067/inferred", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0001760 ! frontal sinus @@ -34867,7 +35252,9 @@ id: MONDO:0002303 name: central retinal vein occlusion def: "Blockage of the central retinal vein." [NCIT:P378] synonym: "central retinal vein occlusion (disorder)" EXACT [DOID:2450, SCTID:68478007] +synonym: "central retinal vein retinal vein occlusion" EXACT [MONDO:design_pattern] synonym: "central retinal Venous occlusion" EXACT [NCIT:C118859] +synonym: "retinal vein occlusion of central retinal vein" EXACT [MONDO:design_pattern] xref: COHD:313761 {source="MONDO:equivalentTo"} xref: DOID:2450 {source="MONDO:equivalentTo"} xref: ICD10:H34.81 {source="DOID:2450"} @@ -34993,7 +35380,7 @@ xref: ICD9:372.39 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C35616 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2458", source="MONDO:equivalentTo"} xref: SCTID:416878008 {source="DOID:2458", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0854165 {source="DOID:2458", source="NCIT:C35616", source="MONDO:equivalentTo"} -is_a: MONDO:0003799 {source="DOID:2458", source="NCIT:C35616", source="linkedlifedata"} ! conjunctivitis (disease) +is_a: MONDO:0003799 {source="DOID:2458", source="NCIT:C35616", source="linkedlifedata", source="linkedlifedata/inferred"} ! conjunctivitis (disease) [Term] id: MONDO:0002310 @@ -35026,11 +35413,9 @@ relationship: disease_has_location UBERON:0000966 ! retina [Term] id: MONDO:0002312 name: opportunistic mycosis -def: "A systemic mycosis that results_in fungal infection located_in human body of immunocompromised individuals, has_material_basis_in Fungi. The organisms invade via the respiratory tract, alimentary tract, or intravascular devices." [DOID:2473, http://www.mycology.adelaide.edu.au/Mycoses/, http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=mmed&part=A4006] +def: "A mycosis that arises from infection in an immunologically compromised host." [https://www.ncbi.nlm.nih.gov/books/NBK7902] synonym: "opportunistic mycoses" EXACT [DOID:2473] -synonym: "opportunistic mycoses (disorder)" EXACT [DOID:2473, SCTID:187108005] -synonym: "opportunistic mycosis (disorder)" EXACT [DOID:2473, SCTID:78999002] -synonym: "opportunistic systemic mycoses" EXACT [DOID:2473] +synonym: "opportunistic systemic mycoses" NARROW [DOID:2473] xref: COHD:432248 {source="MONDO:equivalentTo"} xref: DOID:2473 {source="MONDO:equivalentTo"} xref: ICD9:117.9 {source="i2s", source="MONDO:relatedTo"} @@ -35038,7 +35423,10 @@ xref: ICD9:118 {source="DOID:2473", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:187108005 {source="DOID:2473"} xref: SCTID:78999002 {source="DOID:2473", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0029119 {source="DOID:2473", source="MONDO:equivalentTo"} -is_a: MONDO:0000256 {source="DOID:2473"} ! systemic mycosis +is_a: MONDO:0002041 {source="DOID:2473/inferred", source="https://www.ncbi.nlm.nih.gov/books/NBK7902", source="linkedlifedata"} ! fungal infectious disease +intersection_of: MONDO:0002041 ! fungal infectious disease +intersection_of: has_modifier MONDO:0045035 ! opportunistic infectious +relationship: excluded_subClassOf MONDO:0000256 {source="DOID:2473"} ! systemic mycosis relationship: realized_in_response_to_stimulus NCBITaxon:4751 ! Fungi [Term] @@ -35112,7 +35500,7 @@ xref: SCTID:398100001 {source="DOID:2477"} xref: SCTID:95663000 {source="MONDO:equivalentTo"} xref: UMLS:C0027888 {source="DOID:2477"} xref: UMLS:C0235025 {source="NCIT:C3500", source="MONDO:relatedTo"} -is_a: MONDO:0005244 {source="DOID:2477", source="MONDOLEX:0002316", source="NCIT:C3500", source="NCIT:C3500/inferred", source="linkedlife"} ! peripheral neuropathy +is_a: MONDO:0005244 {source="DOID:2477", source="MONDOLEX:0002316", source="NCIT:C3500", source="NCIT:C3500/inferred", source="linkedlifedata"} ! peripheral neuropathy [Term] id: MONDO:0002317 @@ -35138,6 +35526,7 @@ name: trachea leiomyoma def: "A benign smooth muscle neoplasm arising from the trachea. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:P378] synonym: "leiomyoma of the trachea" EXACT [DOID:248, NCIT:C6049] synonym: "leiomyoma of trachea" EXACT [NCIT:C6049] +synonym: "neoplasm of trachea" EXACT [DOID:248] synonym: "neoplasm of trachea (disorder)" BROAD [DOID:248, SCTID:126703006] synonym: "trachea leiomyoma" EXACT [MONDO:patterns/location, NCIT:C6049] synonym: "trachea neoplasm" BROAD [CSP2005:2017-6768, DOID:248] @@ -35153,7 +35542,7 @@ xref: UMLS:C0040582 {source="DOID:248"} xref: UMLS:C1336772 {source="DOID:248", source="NCIT:C6049", source="MONDO:equivalentTo"} is_a: MONDO:0000382 {source="DOID:248", source="MONDO:Redundant"} ! respiratory system benign neoplasm is_a: MONDO:0001572 {source="DOID:248", source="MONDO:Entailed", source="NCIT:C6049"} ! leiomyoma -is_a: MONDO:0002567 {source="MONDO:Redundant", source="NCIT:C6049/inferred", source="OWLReasoner:2017"} ! tracheal disease +is_a: MONDO:0002567 {source="DOID:248", source="MONDO:Redundant", source="NCIT:C6049/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! tracheal disease is_a: MONDO:0021517 {source="MONDO:Entailed", source="NCIT:C6049", source="OWLReasoner:Elk-2018-01-09"} ! benign neoplasm of trachea intersection_of: MONDO:0001572 ! leiomyoma intersection_of: disease_has_location UBERON:0003126 ! trachea @@ -35180,16 +35569,16 @@ xref: SCTID:190862008 {source="DOID:2485"} xref: SCTID:267505006 {source="DOID:2485"} xref: SCTID:87049008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2485", source="MONDO:equivalentTo"} xref: UMLS:C0031707 {source="DOID:2485", source="NCIT:C97095", source="MONDO:equivalentTo"} -is_a: MONDO:0000226 {source="DOID:2485", source="ICD10:E83.3", source="MONDO:Entailed", source="linkedlifedata"} ! mineral metabolism disease -is_a: MONDO:0005066 {source="ICD10:E83.3/inferred", source="MESH:D010760", source="MONDO:Redundant", source="NCIT:C97095", source="linkedlifedata"} ! metabolic disease +is_a: MONDO:0000226 {source="DOID:2485", source="ICD10:E83.3", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! mineral metabolism disease +is_a: MONDO:0005066 {source="DOID:2485/inferred", source="ICD10:E83.3/inferred", source="MESH:D010760", source="MONDO:Redundant", source="NCIT:C97095", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease intersection_of: MONDO:0000226 ! mineral metabolism disease intersection_of: disease_disrupts GO:0006793 ! phosphorus metabolic process [Term] id: MONDO:0002320 -name: congenital nervous system abnormality +name: congenital nervous system disorder def: "An abnormality of the nervous system that is present at birth or detected in the neonatal period." [NCIT:C97172] -synonym: "congenital Abnormality of the nervous system" EXACT [NCIT:C97172] +synonym: "congenital abnormality of the nervous system" EXACT [NCIT:C97172] synonym: "congenital nervous system disorder" EXACT [NCIT:C97172] synonym: "congenital neurologic anomaly" EXACT [DOID:2490] xref: DOID:2490 {source="MONDO:equivalentTo"} @@ -35198,13 +35587,16 @@ xref: NCIT:C97172 {source="MONDO:equivalentTo"} xref: SCTID:204018008 {source="DOID:2490"} xref: UMLS:C0158538 {source="DOID:2490"} xref: UMLS:C0497552 {source="NCIT:C97172"} -is_a: MONDO:0000839 {source="DOID:2490"} ! physical disorder -relationship: disease_has_location UBERON:0001016 ! nervous system +intersection_of: MONDO:0000001 ! disease or disorder +intersection_of: disease_has_location UBERON:0001016 ! nervous system +intersection_of: has_modifier MONDO:0021140 ! congenital +relationship: excluded_subClassOf MONDO:0000839 {source="DOID:2490"} ! congenital abnormality [Term] id: MONDO:0002321 name: sensory peripheral neuropathy def: "Inflammation or degeneration of the sensory nerves." [NCIT:C3501] +synonym: "peripheral neuropathy of sensory nerve" EXACT [MONDO:design_pattern] synonym: "peripheral sensory neuropathy" EXACT [DOID:2491, NCIT:C3501] synonym: "sensory nerve peripheral neuropathy" EXACT [MONDO:patterns/location] synonym: "sensory neuropathy" EXACT [CSP2005:4007-0113, DOID:2491] @@ -35235,7 +35627,7 @@ xref: SCTID:71072006 {source="DOID:2494"} xref: SCTID:90858003 {source="MONDO:equivalentTo"} xref: UMLS:C0085411 {source="DOID:2494", source="MONDO:equivalentTo"} xref: UMLS:C0156091 {source="DOID:2494"} -is_a: MONDO:0005385 {source="DOID:2494", source="MESH:D016888"} ! vascular disease +is_a: MONDO:0005385 {source="DOID:2494", source="MESH:D016888", source="linkedlifedata/inferred"} ! vascular disease relationship: disease_has_location UBERON:0001555 ! digestive tract [Term] @@ -35253,8 +35645,8 @@ xref: SCTID:11790000 {source="DOID:2495"} xref: SCTID:5050001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2495", source="MONDO:equivalentTo"} xref: UMLS:C0343082 {source="NCIT:C4390", source="DOID:2495", source="MONDO:equivalentTo"} is_a: MONDO:0002407 {source="NCIT:C4390"} ! capillary hemangioma -is_a: MONDO:0002531 {source="DOID:2495", source="NCIT:C4390/inferred", source="linkedlifedata"} ! skin neoplasm -is_a: MONDO:0003110 {source="NCIT:C4390", source="linkedlife/inferred"} ! skin hemangioma +is_a: MONDO:0002531 {source="DOID:2495", source="NCIT:C4390/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin neoplasm +is_a: MONDO:0003110 {source="NCIT:C4390", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! skin hemangioma [Term] id: MONDO:0002324 @@ -35267,10 +35659,11 @@ is_obsolete: true [Term] id: MONDO:0002325 -name: tooth erosion -def: "Progressive loss of the hard substance of a tooth by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)" [MESH:D014077] -synonym: "generalized erosion" EXACT [DOID:2498] -synonym: "localized erosion" EXACT [DOID:2498] +name: tooth erosion, non-bacterial +def: "Progressive loss of tooth tissue by chemical processes that do not involve bacterial action. (Jablonski, Dictionary of Dentistry, 1992, p296)" [MESH:D014077-modified] +synonym: "generalized erosion" RELATED [DOID:2498] +synonym: "localized erosion" RELATED [DOID:2498] +synonym: "tooth erosion" EXACT [DOID:2498] xref: DOID:2498 {source="MONDO:equivalentTo"} xref: ICD10:K03.2 {source="DOID:2498"} xref: ICD9:521.3 {source="DOID:2498", source="i2s", source="MONDO:equivalentTo"} @@ -35285,7 +35678,8 @@ xref: SCTID:82212003 {source="MONDO:kboom-pr-1.00/0.81/10.62", source="DOID:2498 xref: UMLS:C0040436 {source="DOID:2498", source="MONDO:equivalentTo"} xref: UMLS:C1456164 {source="DOID:2498"} xref: UMLS:C1456165 {source="DOID:2498"} -is_a: MONDO:0002220 {source="DOID:2498"} ! teeth hard tissue disease +is_a: MONDO:0006999 {source="DOID:2498/inferred", source="MESH:D014077/inferred", source="linkedlifedata/inferred"} ! tooth disease +relationship: excluded_subClassOf MONDO:0002220 {source="DOID:2498"} ! tooth hard tissue disease [Term] id: MONDO:0002326 @@ -35294,7 +35688,9 @@ xref: DOID:251 {source="MONDO:equivalentTo"} xref: ICD9:291.8 {source="DOID:251"} xref: ICD9:291.89 {source="DOID:251"} xref: UMLS:C1456283 {source="DOID:251"} -is_a: MONDO:0004630 {source="DOID:251"} ! substance-induced psychosis +intersection_of: MONDO:0005084 ! mental disorder +intersection_of: realized_in_response_to ECTO:0001082 ! alcohol consumption related exposure +relationship: excluded_subClassOf MONDO:0004630 {source="DOID:251"} ! substance-induced psychosis [Term] id: MONDO:0002327 @@ -35308,7 +35704,7 @@ xref: NCIT:C5432 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:2516", s xref: SCTID:445513004 {source="DOID:2516", source="MONDO:equivalentTo"} xref: UMLS:C1334237 {source="NCIT:C5432", source="DOID:2516", source="MONDO:equivalentTo"} is_a: MONDO:0002328 {source="DOID:2516", source="NCIT:C5432"} ! intracranial hemangioma -is_a: MONDO:0003155 {source="DOID:2516", source="MONDOLEX:0002327", source="NCIT:C5432/inferred"} ! cavernous hemangioma +is_a: MONDO:0003155 {source="DOID:2516", source="MONDOLEX:0002327", source="NCIT:C5432/inferred", source="linkedlifedata"} ! cavernous hemangioma [Term] id: MONDO:0002328 @@ -35317,6 +35713,7 @@ def: "A hemangioma arising from the brain and meninges." [NCIT:C3633] synonym: "angioma of intracranial structure" EXACT [DOID:2517, NCIT:C3633] synonym: "angioma of the intracranial structure" EXACT [NCIT:C3633] synonym: "brain hemangioma" EXACT [MONDO:patterns/location] +synonym: "hemangioma of brain" EXACT [MONDO:design_pattern] synonym: "hemangioma of intracranial structure" EXACT [NCIT:C3633] synonym: "hemangioma of intracranial structure (disorder)" EXACT [DOID:2517, SCTID:93468003] synonym: "hemangioma of intracranial structures" EXACT [DOID:2517, ICD9CM_2006:228.02] @@ -35333,7 +35730,7 @@ xref: NCIT:C3633 {source="MONDO:equivalentTo", source="DOID:2517"} xref: SCTID:189196005 {source="DOID:2517"} xref: SCTID:93468003 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo", source="DOID:2517"} xref: UMLS:C0154050 {source="NCIT:C3633", source="MONDO:equivalentTo", source="DOID:2517"} -is_a: MONDO:0006500 {source="MONDO:Redundant", source="NCIT:C3633", source="linkedlifedata"} ! hemangioma +is_a: MONDO:0006500 {source="DOID:2517", source="MONDO:Redundant", source="NCIT:C3633", source="linkedlifedata"} ! hemangioma intersection_of: MONDO:0006500 ! hemangioma intersection_of: disease_has_location UBERON:0000955 ! brain @@ -35347,6 +35744,7 @@ synonym: "disorder of testis" RELATED [MONDO:patterns/location_top] synonym: "testicular disease" EXACT [NCIT:C26890] synonym: "testicular disorder" EXACT [NCIT:C26890] synonym: "testis disease" EXACT [MONDO:patterns/location] +synonym: "testis disease or disorder" EXACT [MONDO:design_pattern] synonym: "testis disorder" EXACT [CSP2005:2587-6706, DOID:2519] xref: DOID:2519 {source="MONDO:equivalentTo"} xref: ICD9:608.89 {source="i2s", source="MONDO:relatedTo"} @@ -35356,8 +35754,8 @@ xref: SCTID:236763001 {source="DOID:2519"} xref: SCTID:297228003 {source="DOID:2519"} xref: SCTID:64910008 {source="MONDO:kboom-pr-0.92/0.75/1.11", source="DOID:2519", source="MONDO:equivalentTo"} xref: UMLS:C0039584 {source="NCIT:C26890", source="DOID:2519", source="MONDO:equivalentTo"} -is_a: MONDO:0002259 {source="MESH:D013733", source="MONDO:Entailed", source="OWLReasoner:2017"} ! gonadal disease -is_a: MONDO:0003150 {source="DOID:2519", source="MESH:D013733", source="MONDO:Entailed", source="NCIT:C26890"} ! male reproductive system disease +is_a: MONDO:0002259 {source="DOID:2519", source="MESH:D013733", source="MONDO:Entailed", source="OWLReasoner:2017"} ! gonadal disease +is_a: MONDO:0003150 {source="DOID:2519", source="MESH:D013733", source="MONDO:Entailed", source="NCIT:C26890", source="linkedlifedata/inferred"} ! male reproductive system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000473 ! testis @@ -35379,6 +35777,9 @@ xref: SCTID:268684002 {source="DOID:252"} xref: SCTID:42344001 {source="DOID:252", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.76"} xref: UMLS:C0033936 {source="DOID:252"} is_a: MONDO:0002326 {source="DOID:252"} ! alcohol-induced mental disorder +is_a: MONDO:0021698 {source="MESH:D011604", source="MESH:D011604/inferred", source="linkedlifedata"} ! alcohol-related disorders +intersection_of: MONDO:0005485 ! psychotic disorder +intersection_of: realized_in_response_to ECTO:0001082 ! alcohol consumption related exposure [Term] id: MONDO:0002331 @@ -35400,6 +35801,7 @@ synonym: "disorder of spleen" EXACT [] synonym: "disorder of spleen" RELATED [MONDO:patterns/location_top] synonym: "Dyssplenism" EXACT [DOID:2529, SCTID:58381000] synonym: "spleen disease" EXACT [DOID:2529, MONDO:patterns/location, SCTID:267570002] +synonym: "spleen disease or disorder" EXACT [MONDO:design_pattern] synonym: "splenic disease" EXACT [] synonym: "splenic disorder" RELATED [] xref: DOID:2529 {source="MONDO:equivalentTo"} @@ -35416,7 +35818,7 @@ xref: SCTID:267570002 {source="DOID:2529"} xref: SCTID:51244008 {source="DOID:2529", source="MONDO:equivalentTo"} xref: SCTID:58381000 {source="DOID:2529", source="MONDO:superClassOf"} xref: UMLS:C0037997 {source="DOID:2529", source="MONDO:equivalentTo"} -is_a: MONDO:0005833 {source="DOID:2529", source="MESH:D013158"} ! lymphatic system disease +is_a: MONDO:0005833 {source="DOID:2529", source="EFO:0009002", source="MESH:D013158"} ! lymphatic system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002106 ! spleen @@ -35432,8 +35834,8 @@ xref: ICD9:289.59 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C35347 {source="DOID:2530", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: SCTID:82053000 {source="DOID:2530", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0272412 {source="DOID:2530", source="NCIT:C35347", source="MONDO:equivalentTo"} -is_a: MONDO:0002332 {source="DOID:2530", source="ICD10:D73.3"} ! splenic disease -is_a: MONDO:0005227 {source="NCIT:C35347", source="linkedlifedata"} ! abscess +is_a: MONDO:0002332 {source="DOID:2530", source="ICD10:D73.3", source="NCIT:C35347/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! splenic disease +is_a: MONDO:0005227 {source="NCIT:C35347", source="linkedlifedata", source="linkedlifedata/inferred"} ! abscess intersection_of: MONDO:0005227 ! abscess intersection_of: disease_has_location UBERON:0002106 ! spleen @@ -35470,7 +35872,7 @@ xref: SCTID:414644002 {source="DOID:2531"} xref: UMLS:C0376544 {source="DOID:2531", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C0376545 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C1512393 {source="MONDO:equivalentTo", source="NCIT:C35813"} -is_a: MONDO:0005070 {source="MESH:D019337/inferred", source="MONDO:Entailed", source="MONDOLEX:0002334", source="NCIT:C35813/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="DOID:2531/inferred", source="MESH:D019337/inferred", source="MONDO:Entailed", source="MONDOLEX:0002334", source="NCIT:C35813/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) is_a: MONDO:0005570 {source="MESH:D019337", source="MONDO:Entailed", source="OWLReasoner:2017"} ! hematological system disease intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0002390 ! hematopoietic system @@ -35489,15 +35891,16 @@ xref: NCIT:C84636 {source="DOID:2536", source="MONDO:equivalentTo"} xref: SCTID:128209004 {source="MONDO:directSiblingOf", source="DOID:2536"} xref: SCTID:444728005 {source="DOID:2536", source="MONDO:equivalentTo"} xref: UMLS:C0393819 {source="NCIT:C84636", source="DOID:2536"} -is_a: MONDO:0002336 {source="DOID:2536"} ! inflammatory and toxic neuropathy -is_a: MONDO:0003334 {source="MONDOLEX:0002335", source="NCIT:C84636", source="linkedlife"} ! demyelinating polyneuropathy +is_a: MONDO:0003334 {source="MONDOLEX:0002335", source="NCIT:C84636", source="linkedlifedata"} ! demyelinating polyneuropathy intersection_of: MONDO:0003334 ! demyelinating polyneuropathy intersection_of: MONDO:0021166 ! inflammatory disease intersection_of: has_modifier PATO:0001863 ! chronic +relationship: excluded_subClassOf MONDO:0002336 {source="DOID:2536"} ! inflammatory and toxic neuropathy [Term] id: MONDO:0002336 name: inflammatory and toxic neuropathy +comment: Editor note: consider obsoleting xref: COHD:378140 {source="MONDO:equivalentTo"} xref: DOID:2537 {source="MONDO:equivalentTo"} xref: ICD9:357 {source="DOID:2537"} @@ -35518,6 +35921,7 @@ id: MONDO:0002337 name: intra-abdominal hemangioma def: "A hemangioma arising from organs within the abdominal cavity." [NCIT:C3635] synonym: "abdominal cavity hemangioma" EXACT [MONDO:patterns/location] +synonym: "hemangioma of abdominal cavity" EXACT [MONDO:design_pattern] synonym: "hemangioma of intra-abdominal structure" EXACT [NCIT:C3635] synonym: "hemangioma of intra-abdominal structure (disorder)" EXACT [DOID:254, SCTID:93467008] synonym: "hemangioma of intra-abdominal structures" EXACT [DOID:254, ICD9CM_2006:228.04] @@ -35547,7 +35951,7 @@ xref: ICD9:345.80 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C7760 {source="DOID:2544", source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equivalentTo"} xref: SCTID:111498005 {source="DOID:2544", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0270849 {source="DOID:2544", source="MONDO:equivalentTo", source="NCIT:C7760"} -is_a: MONDO:0005027 {source="DOID:2544", source="NCIT:C7760", source="linkedlifedata"} ! epilepsy +is_a: MONDO:0005027 {source="DOID:2544", source="NCIT:C7760", source="linkedlifedata", source="linkedlifedata/inferred"} ! epilepsy [Term] id: MONDO:0002339 @@ -35573,7 +35977,7 @@ xref: DOID:2555 {source="MONDO:equivalentTo"} xref: MESH:D020293 {source="DOID:2555", source="MONDO:directSiblingOf"} xref: NCIT:C34653 {source="DOID:2555", source="MONDO:equivalentTo"} xref: UMLS:C0018202 {source="DOID:2555", source="MONDO:equivalentTo"} -is_a: MONDO:0018882 {source="DOID:2555"} ! vasculitis +is_a: MONDO:0018882 {source="DOID:2555", source="NCIT:C34653/inferred"} ! vasculitis is_a: MONDO:0043494 {source="NCIT:C34653"} ! arteritis [Term] @@ -35589,7 +35993,7 @@ xref: MESH:D002357 {source="DOID:2557", source="MONDO:subClassOf"} xref: SCTID:203512007 {source="DOID:2557"} xref: SCTID:63198006 {source="DOID:2557", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0085700 {source="DOID:2557", source="MONDO:equivalentTo"} -is_a: MONDO:0003816 {source="DOID:2557"} ! articular cartilage disease +is_a: MONDO:0003816 {source="DOID:2557", source="linkedlifedata"} ! articular cartilage disease [Term] id: MONDO:0002343 @@ -35609,7 +36013,7 @@ xref: NCIT:C8541 {source="DOID:256", source="MONDO:equivalentTo"} xref: SCTID:93472004 {source="DOID:256", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0685201 {source="DOID:256", source="MONDO:equivalentTo", source="NCIT:C8541"} is_a: MONDO:0000630 {source="DOID:256", source="MONDO:Redundant"} ! immune system organ benign neoplasm -is_a: MONDO:0002332 {source="DOID:256", source="MONDO:Redundant"} ! splenic disease +is_a: MONDO:0002332 {source="DOID:256", source="MONDO:Redundant", source="NCIT:C8541/inferred", source="linkedlifedata/inferred"} ! splenic disease is_a: MONDO:0002337 {source="DOID:256", source="NCIT:C8541", source="linkedlifedata"} ! intra-abdominal hemangioma is_a: MONDO:0021500 {source="MONDO:Entailed", source="NCIT:C8541", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of spleen intersection_of: MONDO:0006500 ! hemangioma @@ -35643,7 +36047,7 @@ xref: SCTID:37610005 {source="DOID:2568", source="MONDO:kboom-pr-1.00/0.76/8.25" xref: SCTID:80059007 {source="DOID:2568"} xref: UMLS:C0007860 {source="DOID:2568", source="NCIT:C26716"} xref: UMLS:C0007861 {source="DOID:2568"} -is_a: MONDO:0002256 {source="DOID:2568", source="MESH:D002575", source="linkedlifedata"} ! cervix disease +is_a: MONDO:0002256 {source="DOID:2568", source="MESH:D002575", source="NCIT:C26716/inferred", source="linkedlifedata"} ! cervix disease [Term] id: MONDO:0002346 @@ -35664,7 +36068,7 @@ xref: ICD9:304.11 {source="DOID:2575"} xref: ICD9:304.13 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:231472009 {source="DOID:2575", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0154482 {source="DOID:2575"} -is_a: MONDO:0005303 {source="DOID:2575", source="linkedlifedata"} ! drug dependence +is_a: MONDO:0005303 {source="DOID:2575", source="linkedlifedata", source="linkedlifedata/inferred"} ! drug dependence [Term] id: MONDO:0002348 @@ -35693,7 +36097,7 @@ xref: SCTID:197602005 {source="DOID:2590"} xref: SCTID:48796009 {source="DOID:2590", source="MONDO:equivalentTo"} xref: UMLS:C3501848 {source="DOID:2590", source="NCIT:C35337", source="MONDO:equivalentTo"} xref: UMLS:CN043611 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0005377 {source="DOID:2590", source="MONDO:Entailed", source="MONDOLEX:0002350", source="NCIT:C35337", source="linkedlife"} ! nephrotic syndrome +is_a: MONDO:0005377 {source="DOID:2590", source="MONDO:Entailed", source="MONDOLEX:0002350", source="NCIT:C35337", source="linkedlifedata"} ! nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -35755,7 +36159,7 @@ xref: SCTID:269560007 {source="DOID:2596"} xref: SCTID:363429002 {source="MONDO:kboom-pr-0.98/0.75/3.46", source="DOID:2596", source="MONDO:equivalentTo"} xref: SCTID:93859007 {source="DOID:2596"} xref: UMLS:C0007107 {source="DOID:2596", source="MONDO:equivalentTo", source="NCIT:C7484"} -is_a: MONDO:0000376 {source="DOID:2596", source="MONDO:Entailed", source="linkedlifedata"} ! respiratory system cancer +is_a: MONDO:0000376 {source="DOID:2596", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system cancer is_a: MONDO:0021071 {source="EFO:1000354", source="MONDO:Entailed", source="MONDOLEX:0002352", source="NCIT:C7484", source="OWLReasoner:2017", source="linkedlifedata"} ! laryngeal neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001737 ! larynx @@ -35797,6 +36201,7 @@ synonym: "laryngeal neoplasm, benign" EXACT [NCIT:C3601] synonym: "laryngeal tumor" BROAD [DOID:2598, NCIT:C3156] synonym: "larynx benign neoplasm" EXACT [MONDO:patterns/location] synonym: "larynx neoplasm" BROAD [CSP2005:2017-5694, DOID:2598] +synonym: "neoplasm of larynx" EXACT [DOID:2598] synonym: "neoplasm of larynx (disorder)" BROAD [DOID:2598, SCTID:126692004] xref: COHD:23731 {source="MONDO:equivalentTo"} xref: DOID:2598 {source="MONDO:equivalentTo"} @@ -35807,7 +36212,7 @@ xref: SCTID:126692004 {source="DOID:2598", source="MONDO:subClassOf"} xref: SCTID:92175003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.76/3.46"} xref: UMLS:C0023055 {source="DOID:2598", source="MONDO:subClassOf"} xref: UMLS:C0153952 {source="NCIT:C3601", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000382 {source="DOID:2598", source="MONDO:Entailed", source="linkedlifedata"} ! respiratory system benign neoplasm +is_a: MONDO:0000382 {source="DOID:2598", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm is_a: MONDO:0021071 {source="MONDO:Entailed", source="MONDOLEX:0002354", source="NCIT:C3601", source="linkedlifedata"} ! laryngeal neoplasm intersection_of: MONDO:0005165 {source="NCIT:C3601"} ! benign neoplasm intersection_of: disease_has_location UBERON:0001737 {source="NCIT:C3601"} ! larynx @@ -35829,7 +36234,7 @@ xref: DOID:2599 {source="MONDO:equivalentTo"} xref: NCIT:C4923 {source="DOID:2599", source="MONDO:equivalentTo"} xref: SCTID:372103002 {source="DOID:2599", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0740083 {source="DOID:2599", source="NCIT:C4923", source="MONDO:equivalentTo"} -is_a: MONDO:0002351 {source="DOID:2599", source="MONDO:Entailed", source="MONDOLEX:0002355", source="NCIT:C4923", source="linkedlifedata"} ! glottis cancer +is_a: MONDO:0002351 {source="DOID:2599", source="MONDO:Entailed", source="MONDOLEX:0002355", source="NCIT:C4923", source="linkedlifedata", source="linkedlifedata/inferred"} ! glottis cancer is_a: MONDO:0002358 {source="MONDO:Entailed", source="NCIT:C4923", source="OWLReasoner:2017", source="linkedlifedata"} ! laryngeal carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0002486 ! glottis @@ -35843,19 +36248,20 @@ synonym: "disease, pancreatic" RELATED [MESH:D010182] synonym: "diseases, pancreatic" RELATED [MESH:D010182] synonym: "disorder of pancreas" EXACT [MONDO:patterns/location_top] synonym: "pancreas disease" EXACT [MONDO:patterns/location] +synonym: "pancreas disease or disorder" EXACT [MONDO:design_pattern] synonym: "pancreatic disease" RELATED [MESH:D010182] synonym: "pancreatic disorder" EXACT [NCIT:C26842] xref: DOID:26 {source="MONDO:equivalentTo"} xref: ICD10:K86.8 {source="DOID:26"} -xref: ICD9:577.8 {source="linkedlife", source="DOID:26"} -xref: ICD9:577.9 {source="linkedlife"} +xref: ICD9:577.8 {source="linkedlifedata", source="DOID:26"} +xref: ICD9:577.9 {source="linkedlifedata"} xref: MESH:D010182 {source="MONDO:equivalentTo"} xref: NCIT:C26842 {source="MONDO:equivalentTo"} xref: SCTID:197566002 {source="DOID:26"} xref: SCTID:3855007 {source="MONDO:equivalentTo"} xref: UMLS:C0029771 {source="DOID:26"} xref: UMLS:C0030286 {source="NCIT:C26842"} -is_a: MONDO:0004335 {source="NCIT:C26842"} ! digestive system disease +is_a: MONDO:0004335 {source="NCIT:C26842", source="linkedlifedata/inferred"} ! digestive system disease is_a: MONDO:0005151 {source="DOID:26"} ! endocrine system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001264 ! pancreas @@ -35909,7 +36315,7 @@ xref: SCTID:154480006 {source="DOID:2600"} xref: SCTID:276975007 {source="DOID:2600", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0.76/3.46"} xref: SCTID:93859007 {source="DOID:2600"} xref: UMLS:C0595989 {source="DOID:2600", source="NCIT:C4855", source="MONDO:equivalentTo"} -is_a: MONDO:0002352 {source="DOID:2600", source="MONDO:Entailed", source="MONDOLEX:0002358", source="NCIT:C4855", source="linkedlifedata"} ! larynx cancer +is_a: MONDO:0002352 {source="DOID:2600", source="MONDO:Entailed", source="MONDOLEX:0002358", source="NCIT:C4855", source="linkedlifedata", source="linkedlifedata/inferred"} ! larynx cancer is_a: MONDO:0004993 {source="MONDO:Entailed", source="MONDOLEX:0002358", source="NCIT:C4855/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001737 ! larynx @@ -35953,7 +36359,7 @@ xref: SCTID:189885004 {source="DOID:2602"} xref: SCTID:269638002 {source="DOID:2602"} xref: SCTID:31186001 {source="DOID:2602"} xref: UMLS:C0936248 {source="NCIT:C53459", source="DOID:2602", source="MONDO:equivalentTo"} -is_a: MONDO:0005165 {source="DOID:2602", source="MONDO:Redundant"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:2602", source="DOID:2602/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: MONDO:0024470 {source="NCIT:C53459"} ! benign chondrogenic neoplasm relationship: disease_arises_from_structure CL:0000138 {source="NCIT:C53459"} ! chondrocyte relationship: disease_has_location UBERON:0001994 ! hyaline cartilage tissue @@ -35979,7 +36385,7 @@ xref: SCTID:269535007 {source="DOID:261"} xref: SCTID:363408006 {source="DOID:261", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:94105000 {source="DOID:261"} xref: UMLS:C0153434 {source="DOID:261", source="MONDO:equivalentTo"} -is_a: MONDO:0021063 {source="MONDO:Entailed", source="MONDOLEX:0002361", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! malignant colon neoplasm +is_a: MONDO:0021063 {source="DOID:261", source="MONDO:Entailed", source="MONDOLEX:0002361", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! malignant colon neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001157 ! transverse colon @@ -36006,6 +36412,7 @@ def: "A benign epithelial neoplasm that projects above the surrounding epithelia synonym: "papilloma" EXACT [NCIT:C7440] synonym: "papilloma (except papilloma of bladder M-81201) (morphologic abnormality)" EXACT [DOID:2615, SCTID:23730008] synonym: "papilloma, benign" EXACT [NCIT:C7440] +synonym: "papillomatosis" EXACT [DOID:2615] synonym: "papillomatosis NOS (morphologic abnormality)" RELATED [DOID:2615, SCTID:189564006] synonym: "papillomatosis, NOS" RELATED EXCLUDE [DOID:2615, SCTID:82049002] xref: DOID:2615 {source="MONDO:equivalentTo"} @@ -36019,7 +36426,7 @@ xref: SCTID:711329002 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:261 xref: SCTID:82049002 {source="DOID:2615"} xref: UMLS:C0030354 {source="DOID:2615", source="MONDO:equivalentTo", source="NCIT:C7440"} xref: UMLS:C0205875 {source="DOID:2615"} -is_a: MONDO:0005165 {source="DOID:2615"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:2615", source="DOID:2615/inferred"} ! benign neoplasm is_a: MONDO:0021096 {source="NCIT:C7440"} ! papillary epithelial neoplasm [Term] @@ -36035,10 +36442,10 @@ xref: DOID:2616 {source="MONDO:equivalentTo"} xref: NCIT:C4294 {source="MONDO:relatedTo", source="DOID:2616"} xref: SCTID:72889001 {source="DOID:2616"} xref: UMLS:C0334530 {source="MONDO:equivalentTo", source="DOID:2616"} -is_a: MONDO:0000383 {source="DOID:2616"} ! benign reproductive system neoplasm -is_a: MONDO:0004972 {source="DOID:2616", source="MONDO:Entailed"} ! adenoma +is_a: MONDO:0024888 {source="NCIT:C4294"} ! mesonephric neoplasm intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0003074 ! mesonephric duct +relationship: excluded_subClassOf MONDO:0000383 {source="DOID:2616"} ! benign reproductive system neoplasm [Term] id: MONDO:0002365 @@ -36182,7 +36589,7 @@ xref: SCTID:189819001 {source="DOID:2636"} xref: SCTID:254859006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2636", source="MONDO:equivalentTo"} xref: SCTID:74739000 {source="DOID:2636"} xref: UMLS:C0006160 {source="NCIT:C3872", source="DOID:2636"} -is_a: MONDO:0021068 {source="MONDO:Entailed", source="NCIT:C3872/inferred", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! ovarian neoplasm +is_a: MONDO:0021068 {source="MONDO:Entailed", source="NCIT:C3872/inferred", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata", source="linkedlifedata/inferred"} ! ovarian neoplasm is_a: MONDO:0024235 {source="MONDO:Entailed", source="NCIT:C3872"} ! Brenner tumor intersection_of: MONDO:0024235 ! Brenner tumor intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -36237,7 +36644,7 @@ xref: SCTID:254825007 {source="MONDO:equivalentTo"} xref: SCTID:62064005 {source="DOID:2645"} xref: UMLS:C0025500 {source="DOID:2645", source="MONDO:relatedTo"} xref: UMLS:C0348424 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0005165 {source="DOID:2645", source="MONDO:Entailed", source="MONDOLEX:0002373"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:2645", source="DOID:2645/inferred", source="MONDO:Entailed", source="MONDOLEX:0002373"} ! benign neoplasm intersection_of: MONDO:0005065 ! mesothelioma intersection_of: has_modifier PATO:0002096 ! neoplastic, non-malignant @@ -36285,7 +36692,7 @@ xref: ICD9:159.1 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4564 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:265", source="MONDO:equivalentTo"} xref: SCTID:187821001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:265", source="MONDO:equivalentTo"} xref: UMLS:C0346424 {source="NCIT:C4564", source="DOID:265", source="MONDO:equivalentTo"} -is_a: MONDO:0005966 {source="DOID:265", source="MONDO:Entailed", source="NCIT:C4564/inferred", source="linkedlifedata"} ! spleen cancer +is_a: MONDO:0005966 {source="DOID:265", source="MONDO:Entailed", source="NCIT:C4564/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! spleen cancer is_a: MONDO:0016982 {source="DOID:265", source="MONDO:Entailed", source="NCIT:C4564/inferred", source="linkedlifedata"} ! angiosarcoma (disease) intersection_of: MONDO:0016982 ! angiosarcoma (disease) intersection_of: disease_has_location UBERON:0002106 ! spleen @@ -36406,7 +36813,7 @@ xref: SCTID:189665000 {source="DOID:2664"} xref: UMLS:C0038987 {source="DOID:2664", source="NCIT:C3398", source="MONDO:equivalentTo"} is_a: MONDO:0002297 {source="NCIT:C3398"} ! epidermal appendage tumor is_a: MONDO:0002531 {source="DOID:2664", source="EFO:1001204", source="MESH:D013544", source="MONDO:Redundant", source="NCIT:C3398/inferred"} ! skin neoplasm -is_a: MONDO:0006615 {source="MESH:D013544", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlife"} ! sweat gland disease +is_a: MONDO:0006615 {source="DOID:2664", source="MESH:D013544", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! sweat gland disease intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001820 ! sweat gland @@ -36604,7 +37011,7 @@ xref: DOID:270 {source="MONDO:equivalentTo"} xref: NCIT:C4437 {source="DOID:270", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:254601002 {source="DOID:270", source="MONDO:kboom-pr-0.76/0.38/0.67", source="MONDO:equivalentTo"} xref: UMLS:C0345906 {source="DOID:270", source="NCIT:C4437", source="MONDO:equivalentTo"} -is_a: MONDO:0002691 {source="DOID:270", source="MONDO:Entailed", source="NCIT:C4437/inferred", source="linkedlife"} ! liver cancer +is_a: MONDO:0002691 {source="DOID:270", source="MONDO:Entailed", source="NCIT:C4437/inferred", source="linkedlifedata"} ! liver cancer is_a: MONDO:0005089 {source="DOID:270", source="MONDO:Redundant", source="NCIT:C4437/inferred", source="linkedlifedata"} ! sarcoma is_a: MONDO:0018078 {source="NCIT:C4437"} ! soft tissue sarcoma intersection_of: MONDO:0005089 ! sarcoma @@ -36640,6 +37047,7 @@ synonym: "localized giant cell tumor of the Tenosynovium" EXACT [NCIT:C6532] synonym: "localized tenosynovial giant cell neoplasm" EXACT [NCIT:C6532] synonym: "localized tenosynovial giant cell tumor" EXACT [NCIT:C6532] synonym: "nodular tenosynovitis" EXACT [NCIT:C6532] +synonym: "Synovioma, benign" EXACT [DOID:2701] synonym: "synovioma, benign (morphologic abnormality)" EXACT [DOID:2701, SCTID:5178002] synonym: "tenosynovial giant cell tumor, localized type" EXACT [NCIT:C6532] xref: COHD:436200 {source="MONDO:equivalentTo"} @@ -36653,7 +37061,7 @@ xref: SCTID:71508003 {source="DOID:2701"} xref: SCTID:95413004 {source="MONDO:kboom-pr-0.93/0.76/1.28", source="DOID:2701", source="MONDO:equivalentTo"} xref: UMLS:C0221289 {source="MONDO:subClassOf", source="DOID:2701"} xref: UMLS:C0588125 {source="NCIT:C6532", source="DOID:2701", source="MONDO:equivalentTo"} -is_a: MONDO:0000654 {source="DOID:2701"} ! benign connective and soft tissue neoplasm +is_a: MONDO:0000654 {source="DOID:2701", source="NCIT:C6532/inferred"} ! benign connective and soft tissue neoplasm is_a: MONDO:0002522 {source="MONDOLEX:0002399", source="NCIT:C6532"} ! tenosynovial giant cell tumor is_a: MONDO:0024715 {source="MONDOLEX:0002399", source="NCIT:C6532"} ! benign synovial neoplasm @@ -36761,7 +37169,7 @@ xref: UMLS:C0238246 {source="DOID:271", source="NCIT:C3869", source="MONDO:equiv is_a: MONDO:0000385 {source="MONDO:Entailed", source="NCIT:C3869/inferred", source="OWLReasoner:Elk-2018-01-05"} ! benign digestive system neoplasm is_a: MONDO:0002337 {source="DOID:271", source="NCIT:C3869", source="linkedlifedata"} ! intra-abdominal hemangioma is_a: MONDO:0002514 {source="MONDO:Redundant", source="NCIT:C3869/inferred", source="OWLReasoner:Elk-2018-01-05"} ! hepatobiliary neoplasm -is_a: MONDO:0005154 {source="DOID:271", source="MONDO:Redundant", source="linkedlifedata"} ! liver disease +is_a: MONDO:0005154 {source="DOID:271", source="MONDO:Redundant", source="NCIT:C3869/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! liver disease intersection_of: MONDO:0006500 ! hemangioma intersection_of: disease_has_location UBERON:0002107 ! liver @@ -36778,8 +37186,8 @@ xref: ICD9:573.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C35442 {source="DOID:272", source="MONDO:kboom-pr-0.76/0.38/0.68", source="MONDO:equivalentTo"} xref: SCTID:235878005 {source="DOID:272", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0400923 {source="DOID:272", source="NCIT:C35442", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005154 {source="DOID:272", source="linkedlifedata"} ! liver disease -is_a: MONDO:0005385 {source="DOID:272", source="NCIT:C35442", source="linkedlifedata"} ! vascular disease +is_a: MONDO:0005154 {source="DOID:272", source="NCIT:C35442", source="linkedlifedata"} ! liver disease +is_a: MONDO:0005385 {source="DOID:272", source="NCIT:C35442", source="linkedlifedata", source="linkedlifedata/inferred"} ! vascular disease [Term] id: MONDO:0002406 @@ -36808,8 +37216,8 @@ xref: SCTID:43116000 {source="DOID:2723", source="MONDO:kboom-pr-0.93/0.67/1.77" xref: SCTID:4979002 {source="DOID:2723"} xref: SCTID:703938007 {source="DOID:2723"} xref: UMLS:C0011603 {source="NCIT:C2983", source="DOID:2723", source="MONDO:equivalentTo"} -is_a: MONDO:0005093 {source="DOID:2723", source="MESH:D003872", source="MONDO:Entailed", source="NCIT:C2983/inferred", source="linkedlifedata"} ! skin disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0005093 {source="DOID:2723", source="MESH:D003872", source="MONDO:Entailed", source="NCIT:C2983/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000014 ! zone of skin @@ -36843,7 +37251,7 @@ xref: SCTID:402867006 {source="DOID:2725"} xref: SCTID:56975005 {source="MONDO:kboom-pr-0.88/0.75/0.19", source="DOID:2725", source="MONDO:equivalentTo"} xref: SCTID:83343001 {source="DOID:2725"} xref: UMLS:C0206733 {source="DOID:2725", source="MONDO:equivalentTo"} -is_a: MONDO:0006500 {source="MESH:D018324", source="NCIT:C7457", source="linkedlifedata"} ! hemangioma +is_a: MONDO:0006500 {source="DOID:2725/inferred", source="MESH:D018324", source="NCIT:C7457", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemangioma disjoint_from: MONDO:0018715 ! congenital hemangioma [Term] @@ -36878,6 +37286,7 @@ name: auditory system disease def: "A disease involving the auditory system." [MONDO:DesignPattern] synonym: "auditory disease" EXACT [DOID:2742] synonym: "auditory system disease" EXACT [MONDO:patterns/location] +synonym: "auditory system disease or disorder" EXACT [MONDO:design_pattern] synonym: "disease of auditory system" EXACT [MONDO:patterns/location_top] synonym: "disorder of auditory system" EXACT [MONDO:patterns/location_top] synonym: "ear and mastoid disease" EXACT [DOID:2742] @@ -36897,7 +37306,7 @@ xref: SCTID:267768008 {source="DOID:2742"} xref: SCTID:362966006 {source="MONDO:equivalentTo"} xref: UMLS:C0013447 {source="DOID:2742", source="MONDO:relatedTo"} is_a: MONDO:0005128 {source="DOID:2742", source="EFO:1001455", source="MONDO:Entailed"} ! sensory system disease -is_a: MONDO:0021199 {source="MONDO:metaclass"} ! disease by anatomical system +is_a: MONDO:0021199 {source="DOID:2742/inferred", source="MONDO:metaclass", source="linkedlifedata"} ! disease by anatomical system intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0016490 ! auditory system @@ -36928,18 +37337,25 @@ xref: NCIT:C92635 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="DOID:2745", xref: SCTID:192493008 {source="DOID:2745"} xref: SCTID:80711002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2745", source="MONDO:equivalentTo"} xref: UMLS:C0027402 {source="NCIT:C92635", source="DOID:2745"} -is_a: MONDO:0002028 {source="DOID:2745", source="NCIT:C92635", source="linkedlifedata"} ! personality disorder (disease) +is_a: MONDO:0002028 {source="DOID:2745", source="NCIT:C92635", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease) [Term] id: MONDO:0002412 name: glycogen storage disease -def: "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues." [NCIT:P378] +def: "An inherited metabolic disorder characterized either by defects in glycogen synthesis or defects in the breaking down of glycogen. It results either in the creation of abnormal forms of glycogen or accumulation of glycogen in the tissues." [NCIT:C61272] subset: ordo_group_of_disorders {source="Orphanet:79201"} +synonym: "glycogen metabolism disorder" EXACT [DOID:2747] +synonym: "glycogen metabolism disorder" RELATED [DOID:0050728] synonym: "glycogen storage disease" EXACT [MONDO:0019244] -synonym: "glycogenoses" NARROW [DOID:2747] +synonym: "glycogen storage disorder" EXACT [] +synonym: "glycogenoses" EXACT [DOID:2747, https://en.wikipedia.org/wiki/Glycogen_storage_disease] synonym: "glycogenosis" EXACT [CSP2005:4000-0193, DOID:2747, Orphanet:79201] synonym: "GSD" EXACT [Orphanet:79201] +synonym: "inborn error of glycogen metabolic process" EXACT [MONDO:patterns/inborn_metabolic] +synonym: "inborn glycogen storage disorder" EXACT [] +synonym: "rare inborn error of glycogen metabolic process" RELATED [MONDO:patterns/inborn_metabolic] xref: COHD:434003 {source="MONDO:equivalentTo"} +xref: DOID:0050728 {source="MONDO:equivalentTo"} xref: DOID:2747 {source="MONDO:equivalentTo"} xref: ICD10:E74.0 {source="ORDO:79201/e", source="ORDO:79201/specific", source="Orphanet:79201", source="DOID:2747", source="MONDO:equivalentTo"} xref: ICD10:E74.00 {source="DOID:2747"} @@ -36953,34 +37369,56 @@ xref: SCTID:190744005 {source="DOID:2747"} xref: SCTID:267498002 {source="DOID:2747"} xref: SCTID:29633007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2747", source="MONDO:equivalentTo"} xref: UMLS:C0017919 {source="ORDO:79201/e", source="Orphanet:79201", source="NCIT:C61272", source="DOID:2747", source="MONDO:equivalentTo"} -is_a: MONDO:0000422 {source="DOID:2747"} ! inborn glycogen metabolism disorder -is_a: MONDO:0019052 {source="MESH:D006008/inferred", source="MONDO:Redundant", source="NCIT:C61272", source="Orphanet:79201/inferred", source="linkedlifedata"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:0050728/inferred", source="DOID:2747/inferred", source="MESH:D006008/inferred", source="MONDO:Redundant", source="NCIT:C61272", source="Orphanet:79201/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inborn errors of metabolism +is_a: MONDO:0019214 {source="DOID:0050728", source="DOID:2747/inferred", source="MESH:D006008", source="MONDO:Entailed", source="Orphanet:79201"} ! inborn carbohydrate metabolic disorder +is_a: MONDO:0037792 {source="linkedlifedata"} ! carbohydrate metabolism disease +intersection_of: MONDO:0019052 ! inborn errors of metabolism +intersection_of: disease_has_basis_in_disruption_of GO:0005977 ! glycogen metabolic process +relationship: excluded_subClassOf MONDO:0000422 {source="DOID:2747"} ! obsolete inborn glycogen metabolism disorder [Term] id: MONDO:0002413 name: glycogen storage disease I -def: "An autosomal recessive inherited type of glycogen storage disease. It is characterized by a deficiency of the enzyme glucose-6-phosphatase, resulting in the inability of the liver to produce free glucose causing severe hypoglycemia. There is abnormal accumulation of glycogen in the liver and kidneys." [NCIT:P378] -comment: Editor note: merge into MONDO:0018220 +alt_id: MONDO:0018220 +def: "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." [Orphanet:364] +subset: ordo_disease {source="Orphanet:364"} synonym: "deficiency of glucose-6-phosphatase" EXACT [DOID:2749, SCTID:124437004] -synonym: "glycogen storage disease type I" EXACT [DOID:2749, MONDORULE:1] +synonym: "G6P deficiency" EXACT [Orphanet:364] +synonym: "glycogen storage disease due to G6P deficiency" EXACT [Orphanet:364] +synonym: "glycogen storage disease type 1" EXACT [Orphanet:364] +synonym: "glycogen storage disease type I" EXACT [DOID:2749, MONDORULE:1, Orphanet:364] synonym: "glycogen storage disease, type I" EXACT [DOID:2749] synonym: "glycogen storage disease, type I (disorder)" EXACT [DOID:2749, SCTID:7265005] -synonym: "glycogenosis type I" EXACT [CSP2005:1849-3779, DOID:2749] +synonym: "glycogenosis type 1" EXACT [Orphanet:364] +synonym: "glycogenosis type I" EXACT [CSP2005:1849-3779, DOID:2749, Orphanet:364] +synonym: "GSD due to G6P deficiency" EXACT [Orphanet:364] +synonym: "GSD type 1" EXACT [Orphanet:364] +synonym: "GSD type I" EXACT [Orphanet:364] +synonym: "GSD1" EXACT [] +synonym: "hepatorenal glycogenosis" EXACT [Orphanet:364] +synonym: "Von Gierke disease" EXACT [Orphanet:364] synonym: "von Gierke disease" EXACT [DOID:2749, SCTID:267498002] synonym: "von Gierke's disease" EXACT [DOID:2749, MTHICD9_2006:271.0] xref: DOID:2749 {source="MONDO:equivalentTo"} +xref: ICD10:E74.0 {source="ORDO:364/inclusion", source="ORDO:364/ntbt", source="Orphanet:364", source="MONDO:subClassOf"} xref: ICD10:E74.01 {source="DOID:2749", source="MONDO:equivalentTo"} -xref: MESH:D005953 {source="MONDO:directSiblingOf", source="DOID:2749"} +xref: MedDRA:10018464 {source="Orphanet:364", source="ORDO:364/e"} +xref: MESH:D005953 {source="MONDO:directSiblingOf", source="DOID:2749", source="MONDO:equivalentTo"} xref: NCIT:C84733 {source="DOID:2749", source="MONDO:kboom-pr-0.93/0.85/0.08", source="MONDO:equivalentTo"} -xref: OMIM:232200 {source="DOID:2749", source="MONDO:superClassOf"} -xref: OMIM:232220 {source="DOID:2749", source="MONDO:superClassOf"} -xref: OMIM:232240 {source="MONDO:directSiblingOf", source="DOID:2749", source="MONDO:superClassOf"} +xref: OMIM:232200 {source="Orphanet:364", source="DOID:2749", source="MONDO:superClassOf", source="ORDO:364/btnt"} +xref: OMIM:232220 {source="Orphanet:364", source="DOID:2749", source="MONDO:superClassOf", source="ORDO:364/btnt"} +xref: OMIM:232240 {source="Orphanet:364", source="MONDO:directSiblingOf", source="DOID:2749", source="MONDO:superClassOf", source="ORDO:364/btnt"} +xref: Orphanet:364 {source="MONDO:equivalentTo"} xref: SCTID:124437004 {source="DOID:2749"} xref: SCTID:154738008 {source="DOID:2749"} xref: SCTID:267498002 {source="DOID:2749"} xref: SCTID:7265005 {source="DOID:2749", source="MONDO:kboom-pr-0.91/0.78/0.43", source="MONDO:equivalentTo"} -xref: UMLS:C0017920 {source="DOID:2749", source="NCIT:C84733"} -is_a: MONDO:0002412 {source="DOID:2749", source="ICD10:E74.01", source="NCIT:C84733", source="linkedlifedata"} ! glycogen storage disease +xref: UMLS:C0017920 {source="Orphanet:364", source="DOID:2749", source="NCIT:C84733", source="ORDO:364/e"} +xref: UMLS:C2919796 {source="Orphanet:364", source="MONDO:superClassOf"} +is_a: MONDO:0002412 {source="DOID:2749", source="DOID:2749/inferred", source="ICD10:E74.01", source="MESH:D005953", source="NCIT:C84733", source="Orphanet:364", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease +is_a: MONDO:0015115 {source="Orphanet:364"} ! rare metabolic liver disease +is_a: MONDO:0019743 {source="Orphanet:364"} ! nephropathy secondary to a storage or other metabolic disease +relationship: disease_disrupts GO:0004346 ! glucose-6-phosphatase activity relationship: disease_has_feature HP:0002240 ! Hepatomegaly [Term] @@ -37038,8 +37476,8 @@ xref: DOID:2763 {source="MONDO:equivalentTo"} xref: NCIT:C6065 {source="DOID:2763", source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equivalentTo"} xref: SCTID:707359008 {source="MONDO:equivalentTo"} xref: UMLS:C1333477 {source="DOID:2763", source="NCIT:C6065", source="MONDO:equivalentTo"} -is_a: MONDO:0001763 {source="DOID:2763", source="MONDO:Entailed", source="NCIT:C6065"} ! ethmoid sinus cancer -is_a: MONDO:0010150 {source="MONDO:Entailed", source="NCIT:C6065/inferred", source="OWLReasoner:Elk-2018-01-05"} ! head and neck squamous cell carcinoma +is_a: MONDO:0001763 {source="DOID:2763", source="MONDO:Entailed", source="NCIT:C6065", source="linkedlifedata/inferred"} ! ethmoid sinus cancer +is_a: MONDO:0010150 {source="MONDO:Entailed", source="NCIT:C6065/inferred", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata/inferred"} ! head and neck squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus @@ -37060,7 +37498,7 @@ xref: NCIT:C6237 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:2766", s xref: UMLS:C1333472 {source="DOID:2766", source="NCIT:C6237", source="MONDO:equivalentTo"} is_a: MONDO:0001763 {source="DOID:2766", source="MONDO:Entailed", source="NCIT:C6237"} ! ethmoid sinus cancer is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C6237/inferred", source="OWLReasoner:Elk-2018-03-06"} ! head and neck carcinoma -is_a: MONDO:0004970 {source="MONDO:Entailed", source="MONDOLEX:0002418", source="NCIT:C6237/inferred", source="OWLReasoner:Elk-2018"} ! adenocarcinoma +is_a: MONDO:0004970 {source="DOID:2766/inferred", source="MONDO:Entailed", source="MONDOLEX:0002418", source="NCIT:C6237/inferred", source="OWLReasoner:Elk-2018"} ! adenocarcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus intersection_of: realized_in_response_to_stimulus CL:0000066 ! epithelial cell @@ -37080,7 +37518,7 @@ xref: SCTID:192622000 {source="DOID:2768"} xref: SCTID:56573006 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:2768", source="MONDO:equivalentTo"} xref: UMLS:C0040702 {source="NCIT:C116767", source="DOID:2768"} is_a: MONDO:0002420 {source="DOID:2768", source="MONDO:Entailed", source="linkedlifedata"} ! tic disorder -is_a: MONDO:0005395 {source="NCIT:C116767", source="linkedlifedata"} ! movement disorder +is_a: MONDO:0005395 {source="NCIT:C116767", source="linkedlifedata", source="linkedlifedata/inferred"} ! movement disorder intersection_of: MONDO:0002420 ! tic disorder intersection_of: has_modifier HP:0025153 ! Transient @@ -37144,7 +37582,7 @@ xref: SCTID:307609003 {source="DOID:2775", source="MONDO:kboom-pr-1.00/0.92/29.6 xref: SCTID:56763007 {source="DOID:2775"} xref: UMLS:C0334556 {source="DOID:2775", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr87-c94", source="NCIT:C7644", source="OMIM:102660", source="MONDO:equivalentTo"} xref: UMLS:C1367554 {source="MEDGEN:kboom-pr92-c94", source="Orphanet:55881", source="DOID:2776", source="ORDO:55881/e", source="MONDO:equivalentTo"} -is_a: MONDO:0002129 {source="DOID:2776", source="MESH:C562741/inferred", source="MESH:D050398", source="linkedlife/inferred"} ! bone cancer +is_a: MONDO:0002129 {source="DOID:2775/inferred", source="DOID:2776", source="MESH:C562741/inferred", source="MESH:D050398", source="NCIT:C7644", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bone cancer is_a: MONDO:0005626 {source="MONDO:Redundant", source="NCIT:C7644"} ! epithelial neoplasm is_a: MONDO:0019060 {source="NCIT:C7644/inferred", source="ONCOTREE:ADMA", source="Orphanet:55881"} ! bone neoplasm relationship: disease_has_location UBERON:0002495 ! long bone @@ -37212,7 +37650,7 @@ xref: NCIT:C7420 {source="DOID:2782", source="MONDO:equivalentTo"} xref: SCTID:363414004 {source="MONDO:kboom-pr-0.96/0.75/2.40", source="DOID:2782", source="MONDO:equivalentTo"} xref: SCTID:93980002 {source="DOID:2782"} xref: UMLS:C0153443 {source="DOID:2782", source="NCIT:C7420", source="MONDO:equivalentTo"} -is_a: MONDO:0001464 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! sigmoid colon cancer +is_a: MONDO:0001464 {source="DOID:2782", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! sigmoid colon cancer is_a: MONDO:0002423 {source="MONDO:Entailed", source="MONDOLEX:0002425", source="NCIT:C7420", source="OWLReasoner:2017", source="linkedlifedata"} ! rectosigmoid junction neoplasm is_a: MONDO:0006519 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! rectal cancer intersection_of: MONDO:0004992 ! cancer @@ -37241,6 +37679,7 @@ id: MONDO:0002427 name: cerebellar disease def: "Diseases that affect the structure or function of the cerebellum. Cardinal manifestations of cerebellar dysfunction include dysmetria, gait ataxia, and muscle hypotonia." [MESH:D002526] synonym: "cerebellum disease" EXACT [MONDO:patterns/location] +synonym: "cerebellum disease or disorder" EXACT [MONDO:design_pattern] synonym: "disease of cerebellum" EXACT [MONDO:patterns/location_top] synonym: "disorder of cerebellum" RELATED [MONDO:patterns/location_top] xref: DOID:2786 {source="MONDO:equivalentTo"} @@ -37253,7 +37692,7 @@ xref: SCTID:267691001 {source="DOID:2786"} xref: SCTID:307361005 {source="DOID:2786"} xref: SCTID:49784007 {source="DOID:2786"} xref: UMLS:C0007760 {source="DOID:2786", source="MONDO:equivalentTo"} -is_a: MONDO:0005560 {source="DOID:2786", source="MESH:D002526", source="MONDO:Entailed", source="linkedlife"} ! brain disease +is_a: MONDO:0005560 {source="DOID:2786", source="MESH:D002526", source="MONDO:Entailed", source="linkedlifedata"} ! brain disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002037 ! cerebellum @@ -37310,7 +37749,7 @@ xref: SCTID:700249006 {source="MONDO:kboom-pr-0.84/0.67/0.11", source="MONDO:equ xref: SCTID:700250006 {source="DOID:2797"} xref: UMLS:C0085786 {source="DOID:2797"} xref: UMLS:C2350236 {source="Orphanet:98300", source="ORDO:98300/e", source="MONDO:equivalentTo", source="NCIT:C35714"} -is_a: MONDO:0005249 {source="DOID:2797", source="NCIT:C35714/inferred", source="linkedlifedata"} ! pneumonia +is_a: MONDO:0005249 {source="DOID:2797", source="NCIT:C35714/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumonia is_a: MONDO:0017027 {source="Orphanet:98300"} ! primary interstitial lung disease specific to adulthood relationship: disease_has_feature HP:0002090 ! Pneumonia @@ -37360,10 +37799,10 @@ xref: SCTID:188310002 {source="DOID:2814"} xref: SCTID:254980001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:2814"} xref: SCTID:93660000 {source="DOID:2814"} xref: UMLS:C0346331 {source="NCIT:C4539", source="MONDO:equivalentTo", source="DOID:2814"} -is_a: MONDO:0001563 {source="DOID:2814", source="MONDO:Redundant"} ! vestibulocochlear nerve disease +is_a: MONDO:0001563 {source="DOID:2814", source="MONDO:Redundant", source="NCIT:C4539/inferred", source="linkedlifedata/inferred"} ! vestibulocochlear nerve disease is_a: MONDO:0002433 {source="DOID:2814", source="MONDO:Entailed", source="NCIT:C4539", source="linkedlifedata"} ! malignant cranial nerve neoplasm is_a: MONDO:0004532 {source="DOID:2814", source="MONDO:Entailed"} ! auditory system cancer -is_a: MONDO:0021221 {source="MONDO:Entailed", source="MONDOLEX:0002432", source="NCIT:C4539", source="OWLReasoner:Elk-2018-01-09"} ! vestibulocochlear nerve neoplasm +is_a: MONDO:0021221 {source="MONDO:Entailed", source="MONDOLEX:0002432", source="NCIT:C4539", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! vestibulocochlear nerve neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001648 ! vestibulocochlear nerve @@ -37414,7 +37853,7 @@ xref: DOID:2816 {source="MONDO:equivalentTo"} xref: NCIT:C6995 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2816", source="MONDO:equivalentTo"} xref: SCTID:93929003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2816", source="MONDO:equivalentTo"} xref: UMLS:C0686417 {source="DOID:2816", source="NCIT:C6995", source="MONDO:equivalentTo"} -is_a: MONDO:0002433 {source="MONDO:Entailed", source="MONDOLEX:0002434", source="NCIT:C6995", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! malignant cranial nerve neoplasm +is_a: MONDO:0002433 {source="DOID:2816/inferred", source="MONDO:Entailed", source="MONDOLEX:0002434", source="NCIT:C6995", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant cranial nerve neoplasm is_a: MONDO:0002435 {source="DOID:2816", source="MONDO:Entailed", source="MONDOLEX:0002434", source="NCIT:C6995", source="linkedlifedata"} ! oculomotor nerve neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001643 ! oculomotor nerve @@ -37436,7 +37875,7 @@ xref: ICD9:239.7 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C6994 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2817", source="MONDO:equivalentTo"} xref: SCTID:126969002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2817", source="MONDO:equivalentTo"} xref: UMLS:C1263895 {source="NCIT:C6994", source="DOID:2817", source="MONDO:equivalentTo"} -is_a: MONDO:0002633 {source="MONDO:Entailed", source="NCIT:C6994", source="OWLReasoner:2017", source="linkedlifedata"} ! cranial nerve neoplasm +is_a: MONDO:0002633 {source="DOID:2817/inferred", source="MONDO:Entailed", source="NCIT:C6994", source="OWLReasoner:2017", source="linkedlifedata"} ! cranial nerve neoplasm is_a: MONDO:0003546 {source="DOID:2817", source="MONDO:Entailed", source="NCIT:C6994", source="linkedlifedata"} ! third cranial nerve disease intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001643 ! oculomotor nerve @@ -37451,16 +37890,17 @@ synonym: "disorder of the nose" EXACT [DOID:2825] synonym: "disorder of the nose (disorder)" EXACT [DOID:2825, SCTID:89488007] synonym: "nasal disorder" EXACT [CSP2005:1997-0936, DOID:2825] synonym: "nose disease" EXACT [MONDO:patterns/location] +synonym: "nose disease or disorder" EXACT [MONDO:design_pattern] xref: COHD:4229909 {source="MONDO:equivalentTo"} xref: DOID:2825 {source="MONDO:equivalentTo"} xref: ICD9:478.19 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D009668 {source="MONDO:ontobio", source="MONDO:equivalentTo", source="DOID:2825"} xref: SCTID:89488007 {source="MONDO:kboom-pr-1.00/0.91/28.95", source="MONDO:equivalentTo", source="DOID:2825"} xref: UMLS:C0028432 {source="MONDO:equivalentTo", source="DOID:2825"} -is_a: MONDO:0004867 {source="DOID:2825"} ! upper respiratory tract disease -is_a: MONDO:0024505 {source="MONDO:metaclass"} ! disorder by anatomical region +is_a: MONDO:0024505 {source="MONDO:metaclass", source="linkedlifedata/inferred"} ! disorder by anatomical region intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000004 ! nose +relationship: excluded_subClassOf MONDO:0004867 {source="DOID:2825"} ! upper respiratory tract disease [Term] id: MONDO:0002437 @@ -37480,6 +37920,8 @@ def: "An instance of polycythemia that is acquired during the lifetime of the in synonym: "acquired polycythemia" EXACT [MONDO:patterns/acquired] synonym: "acquired polycythemia (disease)" EXACT [MONDO:patterns/acquired] synonym: "polycythemia, secondary" RELATED [DOID:2834] +synonym: "secondary Polycythemia" EXACT [DOID:2834] +synonym: "secondary polycythemia" EXACT [DOID:2834] synonym: "secondary polycythemia (disorder)" RELATED [DOID:2834] synonym: "secondary polycythemia NOS (disorder)" RELATED [DOID:2834] xref: DOID:2834 {source="MONDO:equivalentTo"} @@ -37654,7 +38096,7 @@ xref: SCTID:30289006 {source="DOID:2871"} xref: SCTID:93781006 {source="DOID:2871"} xref: UMLS:C0206687 {source="DOID:2871", source="MONDO:relatedTo"} xref: UMLS:C0476089 {source="DOID:2871", source="NCIT:C7558", source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0004993 {source="MONDO:Redundant", source="NCIT:C7558"} ! carcinoma +is_a: MONDO:0004993 {source="DOID:2871", source="MONDO:Redundant", source="NCIT:C7558"} ! carcinoma is_a: MONDO:0011962 {source="DOID:2871", source="MONDO:Entailed", source="MONDOLEX:0002447", source="NCIT:C7558"} ! endometrial cancer intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001295 ! endometrium @@ -37709,7 +38151,7 @@ xref: SCTID:266569009 {source="MONDO:directSiblingOf", source="DOID:2883"} xref: SCTID:270536001 {source="DOID:2883"} xref: UMLS:C0520477 {source="DOID:2883", source="NCIT:C4795", source="MONDO:equivalentTo"} is_a: MONDO:0000625 {source="DOID:2883", source="NCIT:C4795/inferred"} ! benign male reproductive system neoplasm -is_a: MONDO:0003105 {source="DOID:2883", source="MONDO:Redundant", source="NCIT:C4795/inferred", source="linkedlifedata"} ! prostate disease +is_a: MONDO:0003105 {source="DOID:2883", source="MONDO:Redundant", source="NCIT:C4795/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! prostate disease is_a: MONDO:0004972 {source="DOID:2883", source="MONDO:Entailed", source="NCIT:C4795", source="linkedlifedata"} ! adenoma is_a: MONDO:0021510 {source="MONDO:Entailed", source="NCIT:C4795", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of prostate intersection_of: MONDO:0004972 ! adenoma @@ -37745,6 +38187,7 @@ id: MONDO:0002452 name: prostate leiomyoma def: "A benign smooth muscle neoplasm arising from the prostate. It is characterized by the presence of spindle cells with cigar-shaped nuclei, interlacing fascicles, and a whorled pattern." [NCIT:C5544] synonym: "leiomyoma of prostate" EXACT [NCIT:C5544] +synonym: "leiomyoma of prostate gland" EXACT [MONDO:design_pattern] synonym: "leiomyoma of the prostate" EXACT [NCIT:C5544] synonym: "prostate gland leiomyoma" EXACT [MONDO:patterns/location] synonym: "prostate leiomyoma" EXACT [NCIT:C5544] @@ -37829,6 +38272,7 @@ synonym: "mandibulofacial dysostosis without limb anomalies" EXACT [Orphanet:861 synonym: "MFD1" RELATED [GARD:0009124] synonym: "TCOF" RELATED [GARD:0009124] synonym: "TCS" RELATED [GARD:0009124] +synonym: "Treacher Collins syndrome" RELATED [DOID:2908] xref: DOID:2908 {source="MONDO:equivalentTo"} xref: GARD:0009124 {source="Orphanet-shared", source="MONDO:equivalentTo"} xref: ICD10:Q75.4 {source="Orphanet:861", source="ORDO:861/ntbt", source="DOID:2908", source="ORDO:861/inclusion"} @@ -37876,6 +38320,7 @@ comment: We make this equivalent with the UMLS concept for the reaction synonym: "delayed hypersensitivity reaction" EXACT [NCIT:C3115] synonym: "delayed-type hypersensitivity" EXACT [NCIT:C3115] synonym: "delayed-type hypersensitivity response" EXACT [NCIT:C3115] +synonym: "disorder of type IV hypersensitivity" EXACT [MONDO:design_pattern] synonym: "DTH" EXACT [NCIT:C3115] synonym: "hypersensitivity reaction type IV disease" RELATED [DOID:2916] synonym: "Immunoproliferative disease" RELATED [DOID:2916] @@ -37912,9 +38357,9 @@ xref: DOID:292 {source="MONDO:equivalentTo"} xref: NCIT:C5102 {source="DOID:292", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:416510003 {source="DOID:292", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1334361 {source="DOID:292", source="NCIT:C5102", source="MONDO:equivalentTo"} -is_a: MONDO:0002236 {source="DOID:292"} ! ocular cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001750 ! lacrimal apparatus +relationship: excluded_subClassOf MONDO:0002236 {source="DOID:292"} ! ocular cancer [Term] id: MONDO:0002461 @@ -37938,6 +38383,7 @@ def: "A renal disorder characterized by damage in the glomeruli. It may be acute synonym: "bright's disease" RELATED [GARD:0006516] synonym: "glomerular nephritis" EXACT [NCIT:C26784] synonym: "glomerulonephritis" EXACT [MONDO:ambiguous] +synonym: "nephritis of renal glomerulus" EXACT [MONDO:design_pattern] synonym: "renal glomerulus nephritis" EXACT [MONDO:patterns/location] xref: DOID:2921 {source="MONDO:equivalentTo"} xref: GARD:0006516 {source="MONDO:equivalentTo"} @@ -37950,7 +38396,7 @@ xref: NCIT:C26784 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2921", xref: SCTID:197648001 {source="DOID:2921"} xref: SCTID:36171008 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2921", source="MONDO:equivalentTo"} xref: UMLS:C0017658 {source="NCIT:C26784", source="DOID:2921", source="MONDO:equivalentTo"} -is_a: MONDO:0001166 {source="MESH:D005921", source="MONDO:Entailed", source="NCIT:C26784", source="OWLReasoner:2017", source="linkedlifedata"} ! nephritis +is_a: MONDO:0001166 {source="DOID:2921", source="MESH:D005921", source="MONDO:Entailed", source="NCIT:C26784", source="OWLReasoner:2017", source="linkedlifedata"} ! nephritis is_a: MONDO:0019722 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! glomerular disease intersection_of: MONDO:0001166 ! nephritis intersection_of: disease_has_location UBERON:0000074 ! renal glomerulus @@ -37985,6 +38431,7 @@ synonym: "malignant neoplasm of the lacrimal gland" EXACT [NCIT:C3563] synonym: "malignant tumor of lacrimal gland" EXACT [NCIT:C3563] synonym: "malignant tumor of the lacrimal gland" EXACT [NCIT:C3563] synonym: "malignant tumour of lacrimal gland" EXACT [DOID:294, SCTID:188271007] +synonym: "neoplasm of lacrimal gland" EXACT [DOID:294] synonym: "neoplasm of lacrimal gland (disorder)" EXACT [DOID:294, SCTID:127004000] synonym: "tumor of the lacrimal gland" EXACT [DOID:294, NCIT:C4360] xref: COHD:4092530 {source="MONDO:equivalentTo"} @@ -37999,8 +38446,8 @@ xref: SCTID:188272000 {source="DOID:294"} xref: SCTID:93853008 {source="DOID:294"} xref: UMLS:C0153627 {source="DOID:294", source="NCIT:C3563"} xref: UMLS:C0339124 {source="DOID:294"} -is_a: MONDO:0001854 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! lacrimal apparatus disease -is_a: MONDO:0002236 {source="MONDO:Redundant", source="NCIT:C3563"} ! ocular cancer +is_a: MONDO:0001854 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease +is_a: MONDO:0002236 {source="DOID:294/inferred", source="MONDO:Redundant", source="NCIT:C3563"} ! ocular cancer is_a: MONDO:0002460 {source="DOID:294", source="NCIT:C3563/inferred", source="linkedlifedata"} ! lacrimal system cancer is_a: MONDO:0021222 {source="MONDO:Entailed", source="NCIT:C3563", source="OWLReasoner:Elk-2018-01-09"} ! lacrimal gland neoplasm intersection_of: MONDO:0004992 ! cancer @@ -38019,7 +38466,7 @@ xref: MESH:D001988 {source="DOID:2942", source="MONDO:ontobio", source="MONDO:eq xref: NCIT:C39658 {source="DOID:2942", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: SCTID:4120002 {source="DOID:2942", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0006271 {source="DOID:2942", source="NCIT:C39658", source="MONDO:equivalentTo"} -is_a: MONDO:0005275 {source="DOID:2942", source="MESH:D001988/inferred"} ! lung disease +is_a: MONDO:0005275 {source="DOID:2942", source="MESH:D001988/inferred", source="NCIT:C39658/inferred"} ! lung disease [Term] id: MONDO:0002466 @@ -38045,6 +38492,7 @@ synonym: "disease of internal ear" EXACT [MONDO:patterns/location_top] synonym: "disorder of internal ear" RELATED [MONDO:patterns/location_top] synonym: "inner Ear disorder" EXACT [NCIT:C27166] synonym: "internal ear disease" EXACT [MONDO:patterns/location] +synonym: "internal ear disease or disorder" EXACT [MONDO:design_pattern] synonym: "internal Ear disorder" EXACT [NCIT:C27166] synonym: "labyrinthine disease" EXACT [DOID:2952] synonym: "vestibular disorder" NARROW [NCIT:C27166] @@ -38063,8 +38511,8 @@ xref: SCTID:267763004 {source="DOID:2952"} xref: SCTID:286945007 {source="DOID:2952"} xref: UMLS:C0022890 {source="DOID:2952"} xref: UMLS:C0494559 {source="DOID:2952", source="NCIT:C27166"} -is_a: MONDO:0002409 {source="DOID:2952"} ! auditory system disease -is_a: MONDO:0021205 {source="MONDO:Entailed", source="NCIT:C27166", source="OWLReasoner:Elk-2018-01-09", source="linkedlife"} ! disease of ear +is_a: MONDO:0002409 {source="DOID:2952", source="linkedlifedata/inferred"} ! auditory system disease +is_a: MONDO:0021205 {source="MONDO:Entailed", source="NCIT:C27166", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! disease of ear intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001846 ! internal ear relationship: disease_has_location UBERON:0001846 {source="NCIT:C27166", source="OWLReasoner:Elk-2018"} ! internal ear @@ -38104,7 +38552,7 @@ xref: NCIT:C6804 {source="DOID:296", source="MONDO:equivalentTo"} xref: SCTID:254989000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:296", source="MONDO:equivalentTo"} xref: UMLS:C0346342 {source="NCIT:C6804", source="DOID:296", source="MONDO:equivalentTo"} is_a: MONDO:0002463 {source="MONDO:Entailed", source="NCIT:C6804"} ! lacrimal gland carcinoma -is_a: MONDO:0002464 {source="DOID:296", source="MONDO:Redundant", source="NCIT:C6804/inferred", source="linkedlifedata"} ! lacrimal gland cancer +is_a: MONDO:0002464 {source="DOID:296", source="MONDO:Redundant", source="NCIT:C6804/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal gland cancer is_a: MONDO:0002472 {source="MONDO:Entailed", source="MONDOLEX:0002469", source="NCIT:C6804"} ! carcinoma ex pleomorphic adenoma is_a: MONDO:0005853 {source="DOID:296", source="MONDO:Redundant", source="NCIT:C6804/inferred"} ! malignant mixed neoplasm intersection_of: MONDO:0002472 ! carcinoma ex pleomorphic adenoma @@ -38172,7 +38620,7 @@ xref: SCTID:268000007 {source="DOID:2965"} xref: SCTID:84017003 {source="MONDO:kboom-pr-0.88/0.76/0.11", source="DOID:2965", source="MONDO:equivalentTo"} xref: UMLS:C0006444 {source="NCIT:C94407", source="DOID:2965", source="MONDO:equivalentTo"} is_a: MONDO:0006816 {source="DOID:2965", source="MESH:D002062"} ! arthropathy -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0003668 ! synovial bursa @@ -38206,7 +38654,7 @@ xref: NCIT:C34750 {source="MONDO:kboom-pr-0.94/0.87/0.21", source="MONDO:equival xref: SCTID:722223000 {source="MONDO:kboom-pr-0.76/0.47/0.20", source="MONDO:equivalentTo"} xref: UMLS:C0022679 {source="DOID:2975", source="MONDO:equivalentTo"} xref: UMLS:C1691228 {source="NCIT:C34750"} -is_a: MONDO:0005240 {source="DOID:2975", source="MESH:D052177", source="linkedlifedata"} ! kidney disease +is_a: MONDO:0005240 {source="DOID:2975", source="MESH:D052177", source="NCIT:C34750/inferred", source="linkedlifedata"} ! kidney disease intersection_of: MONDO:0005240 ! kidney disease intersection_of: disease_has_feature HP:0000107 ! Renal cyst @@ -38235,8 +38683,8 @@ xref: SCTID:190766003 {source="DOID:2977"} xref: SCTID:367621000119107 {source="DOID:2977"} xref: UMLS:C0020500 {source="Orphanet:416", source="DOID:2977", source="ORDO:416/e"} xref: UMLS:C0020501 {source="NCIT:C123158", source="Orphanet:416", source="DOID:2977", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MESH:D006960/inferred", source="MONDO:Redundant", source="NCIT:C123158", source="Orphanet:416/inferred", source="linkedlifedata"} ! inherited genetic disease -is_a: MONDO:0005240 {source="DOID:2977", source="MESH:D006960/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! kidney disease +is_a: MONDO:0003847 {source="MESH:D006960/inferred", source="MONDO:Redundant", source="NCIT:C123158", source="Orphanet:416/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease +is_a: MONDO:0005240 {source="DOID:2977", source="MESH:D006960/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease is_a: MONDO:0017703 {source="Orphanet:416"} ! disorder of glyoxylate metabolism is_a: MONDO:0019743 {source="Orphanet:416"} ! nephropathy secondary to a storage or other metabolic disease @@ -38252,7 +38700,7 @@ xref: NCIT:C4541 {source="exact-label-match", source="DOID:298", source="MONDO:e xref: SCTID:254988008 {source="DOID:298", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.80/1.85"} xref: UMLS:C0346341 {source="NCIT:C4541", source="DOID:298", source="MONDO:equivalentTo"} is_a: MONDO:0002463 {source="DOID:298", source="MONDO:Entailed", source="NCIT:C4541"} ! lacrimal gland carcinoma -is_a: MONDO:0004970 {source="DOID:298", source="MONDO:Entailed", source="MONDOLEX:0002475", source="NCIT:C4541"} ! adenocarcinoma +is_a: MONDO:0004970 {source="DOID:298", source="MONDO:Entailed", source="MONDOLEX:0002475", source="NCIT:C4541", source="linkedlifedata/inferred"} ! adenocarcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0001817 ! lacrimal gland @@ -38276,6 +38724,7 @@ id: MONDO:0002477 name: prostate neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the prostate gland. This category includes carcinoid tumors and small cell carcinomas." [NCIT:C5545] synonym: "neuroendocrine neoplasm of prostate" EXACT [NCIT:C5545] +synonym: "neuroendocrine neoplasm of prostate gland" EXACT [MONDO:design_pattern] synonym: "neuroendocrine neoplasm of the prostate" EXACT [NCIT:C5545] synonym: "neuroendocrine tumor of the prostate" EXACT [DOID:2992, NCIT:C5545] synonym: "prostate gland neuroendocrine neoplasm" EXACT [MONDO:patterns/location] @@ -38286,7 +38735,7 @@ xref: DOID:2992 {source="MONDO:equivalentTo"} xref: NCIT:C5545 {source="DOID:2992", source="exact-label-match", source="MONDO:equivalentTo"} xref: ONCOTREE:PRNE {source="MONDO:equivalentTo"} xref: UMLS:C1335515 {source="NCIT:C5545", source="DOID:2992", source="MONDO:equivalentTo"} -is_a: MONDO:0003105 {source="MONDO:Redundant", source="NCIT:C5545/inferred", source="OWLReasoner:Elk-2018-01-05"} ! prostate disease +is_a: MONDO:0003105 {source="DOID:2992/inferred", source="MONDO:Redundant", source="NCIT:C5545/inferred", source="OWLReasoner:Elk-2018-01-05"} ! prostate disease is_a: MONDO:0019496 {source="DOID:2992", source="MONDO:Entailed", source="NCIT:C5545"} ! neuroendocrine neoplasm is_a: MONDO:0021259 {source="MONDO:Entailed", source="NCIT:C5545", source="ONCOTREE:PRNE", source="OWLReasoner:Elk-2018-01-09"} ! prostate neoplasm intersection_of: MONDO:0019496 ! neuroendocrine neoplasm @@ -38440,6 +38889,7 @@ id: MONDO:0002487 name: breast granular cell tumor def: "A usually benign neoplasm that arises from the breast. It presents as a single, firm, and painless mass. It is characterized by the presence of neoplastic cells with eosinophilic granular cytoplasm." [NCIT:C40400] synonym: "breast granular cell tumor" EXACT [MONDO:patterns/location, NCIT:C40400] +synonym: "granular cell tumor of breast" EXACT [MONDO:design_pattern] xref: DOID:3011 {source="MONDO:equivalentTo"} xref: NCIT:C40400 {source="DOID:3011", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1511312 {source="NCIT:C40400", source="DOID:3011", source="MONDO:equivalentTo"} @@ -38479,10 +38929,13 @@ synonym: "malignant phyllodes breast neoplasm" EXACT [NCIT:C4504] synonym: "malignant phyllodes neoplasm" BROAD [DOID:3016] synonym: "malignant phyllodes neoplasm of breast" EXACT [NCIT:C4504] synonym: "malignant phyllodes neoplasm of the breast" EXACT [NCIT:C4504] +synonym: "malignant phyllodes tumor" EXACT [DOID:3016] synonym: "malignant phyllodes tumor (morphologic abnormality)" EXACT [DOID:3016, SCTID:134331008] synonym: "malignant phyllodes tumor of breast" EXACT [NCIT:C4504] synonym: "malignant phyllodes tumor of breast (disorder)" EXACT [DOID:3016, SCTID:254844000] synonym: "malignant phyllodes tumor of the breast" EXACT [NCIT:C4504] +synonym: "Phyllodes breast neoplasm" EXACT [DOID:3016] +synonym: "phyllodes breast tumor" EXACT [DOID:3016] synonym: "phyllodes tumor, malignant" EXACT [DOID:3016] synonym: "phyllodes tumor, malignant (morphologic abnormality)" BROAD [DOID:3016] xref: DOID:3016 {source="MONDO:equivalentTo"} @@ -38499,7 +38952,7 @@ xref: UMLS:C0238031 {source="DOID:3016"} xref: UMLS:C0346154 {source="DOID:3016", source="NCIT:C4504"} xref: UMLS:C0600066 {source="DOID:3016"} is_a: MONDO:0005853 {source="MONDO:Entailed", source="NCIT:C4504/inferred", source="OWLReasoner:Elk-2018-01-05"} ! malignant mixed neoplasm -is_a: MONDO:0007254 {source="DOID:3016", source="MONDO:Entailed", source="NCIT:C4504", source="linkedlife", source="linkedlifedata"} ! breast cancer +is_a: MONDO:0007254 {source="DOID:3016", source="MONDO:Entailed", source="NCIT:C4504", source="linkedlifedata", source="linkedlifedata/inferred"} ! breast cancer is_a: MONDO:0021047 {source="MONDO:Entailed", source="MONDOLEX:0002489", source="NCIT:C4504", source="ONCOTREE:MPT", source="linkedlifedata"} ! breast phyllodes tumor is_a: MONDO:0037003 {source="MONDOLEX:0002489", source="NCIT:C4504"} ! malignant phyllodes tumor intersection_of: MONDO:0021047 ! breast phyllodes tumor @@ -38629,7 +39082,7 @@ xref: SCTID:213018006 {source="DOID:3044"} xref: SCTID:414285001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3044", source="MONDO:equivalentTo"} xref: SCTID:52332009 {source="DOID:3044"} xref: UMLS:C0016470 {source="DOID:3044"} -is_a: MONDO:0005271 {source="DOID:3044", source="EFO:1001890", source="MESH:D005512/inferred", source="MONDO:Entailed", source="linkedlifedata"} ! allergic disease +is_a: MONDO:0005271 {source="DOID:3044", source="EFO:1001890", source="MESH:D005512/inferred", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! allergic disease intersection_of: MONDO:0005271 ! allergic disease intersection_of: realized_in_response_to_stimulus FOODON:00002403 ! food material @@ -38673,8 +39126,8 @@ xref: EFO:0006545 {source="MONDO:equivalentTo"} xref: NCIT:C4642 {source="MONDO:equivalentTo", source="DOID:3073"} xref: SCTID:276828006 {source="MONDO:equivalentTo", source="DOID:3073"} xref: UMLS:C0349543 {source="NCIT:C4642", source="MONDO:equivalentTo", source="DOID:3073"} -is_a: MONDO:0005499 {source="DOID:3073", source="EFO:0006545/inferred", source="MONDO:Entailed", source="linkedlifedata"} ! brain glioma -is_a: MONDO:0018177 {source="DOID:3073", source="MONDO:Entailed", source="NCIT:C4642", source="linkedlife", source="linkedlifedata"} ! glioblastoma (disease) +is_a: MONDO:0005499 {source="DOID:3073", source="EFO:0006545/inferred", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain glioma +is_a: MONDO:0018177 {source="DOID:3073", source="MONDO:Entailed", source="NCIT:C4642", source="linkedlifedata", source="linkedlifedata/inferred"} ! glioblastoma (disease) intersection_of: MONDO:0018177 ! glioblastoma (disease) intersection_of: disease_has_location UBERON:0000955 ! brain @@ -38694,7 +39147,7 @@ synonym: "adult astrocytoma" EXACT [DOID:3076, NCIT:C7049] xref: DOID:3076 {source="MONDO:equivalentTo"} xref: NCIT:C7049 {source="DOID:3076", source="MONDO:equivalentTo"} xref: UMLS:C1332183 {source="DOID:3076", source="NCIT:C7049", source="MONDO:equivalentTo"} -is_a: MONDO:0021636 {source="MONDOLEX:0002503", source="NCIT:C7049"} ! astrocytic tumor +is_a: MONDO:0021636 {source="DOID:3076", source="MONDOLEX:0002503", source="NCIT:C7049"} ! astrocytic tumor [Term] id: MONDO:0002504 @@ -38706,6 +39159,7 @@ replaced_by: MONDO:0016684 id: MONDO:0002505 name: childhood astrocytic tumor def: "An astrocytic tumor appearing before the age of twenty one without designation of benign or malignant nor designated location." [NCIT:C9022] +synonym: "astrocytic tumor of childhood" EXACT [MONDO:design_pattern] synonym: "astrocytic tumors, childhood" EXACT [NCIT:C9022] synonym: "childhood astrocytic neoplasm" EXACT [NCIT:C9022] synonym: "childhood astrocytic tumor" EXACT [NCIT:C9022] @@ -38721,7 +39175,7 @@ xref: SCTID:128854008 {source="DOID:3079"} xref: SCTID:253065004 {source="DOID:3079"} xref: SCTID:67859002 {source="DOID:3079"} xref: UMLS:C1321865 {source="NCIT:C9022", source="DOID:3079", source="MONDO:equivalentTo"} -is_a: MONDO:0021636 {source="MONDOLEX:0002505", source="NCIT:C9022"} ! astrocytic tumor +is_a: MONDO:0021636 {source="DOID:3079", source="MONDOLEX:0002505", source="NCIT:C9022"} ! astrocytic tumor intersection_of: MONDO:0021636 ! astrocytic tumor intersection_of: has_modifier HP:0011463 ! Childhood onset relationship: excluded_subClassOf MONDO:0019781 {source="DOID:3079"} ! astrocytoma (excluding glioblastoma) @@ -38819,7 +39273,7 @@ xref: ICD10:H04.579 {source="DOID:3096"} xref: ICD9:375.54 {source="DOID:3096", source="i2s", source="MONDO:equivalentTo"} xref: SCTID:11772001 {source="DOID:3096", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155246 {source="DOID:3096"} -is_a: MONDO:0001854 {source="DOID:3096", source="linkedlifedata"} ! lacrimal apparatus disease +is_a: MONDO:0001854 {source="DOID:3096", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease [Term] id: MONDO:0002512 @@ -38900,7 +39354,7 @@ xref: DOID:3117 {source="MONDO:equivalentTo"} xref: EFO:0008550 {source="MONDO:equivalentTo"} xref: NCIT:C8614 {source="DOID:3117", source="MONDO:equivalentTo"} xref: UMLS:C0854196 {source="DOID:3117", source="NCIT:C8614", source="MONDO:equivalentTo"} -is_a: MONDO:0005070 {source="EFO:0008550/inferred", source="MONDO:Redundant", source="NCIT:C8614/inferred", source="OWLReasoner:2017"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="DOID:3117/inferred", source="EFO:0008550/inferred", source="MONDO:Redundant", source="NCIT:C8614/inferred", source="OWLReasoner:2017"} ! neoplasm (disease) is_a: MONDO:0021223 {source="EFO:0008550", source="MONDO:Entailed", source="NCIT:C8614", source="OWLReasoner:Elk-2018-01-09"} ! digestive system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0002423 ! hepatobiliary system @@ -38913,11 +39367,12 @@ def: "A non-neoplastic or neoplastic disorder that affects the liver, bile ducts synonym: "disease of hepatobiliary system" EXACT [MONDO:patterns/location_top] synonym: "disorder of hepatobiliary system" RELATED [MONDO:patterns/location_top] synonym: "hepatobiliary system disease" EXACT [MONDO:patterns/location] +synonym: "hepatobiliary system disease or disorder" EXACT [MONDO:design_pattern] synonym: "liver and biliary tract disease" EXACT [DOID:3118] xref: DOID:3118 {source="MONDO:equivalentTo"} xref: NCIT:C3959 {source="DOID:3118", source="MONDO:equivalentTo"} xref: UMLS:C0267792 {source="DOID:3118", source="MONDO:equivalentTo"} -is_a: MONDO:0004335 {source="DOID:3118"} ! digestive system disease +is_a: MONDO:0004335 {source="DOID:3118", source="NCIT:C3959"} ! digestive system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002423 ! hepatobiliary system @@ -38955,7 +39410,7 @@ xref: UMLS:C0012243 {source="DOID:3119"} xref: UMLS:C0017185 {source="DOID:3119"} xref: UMLS:C0685938 {source="DOID:3119", source="NCIT:C4890"} is_a: MONDO:0004335 {source="DOID:3119", source="NCIT:C4890/inferred"} ! digestive system disease -is_a: MONDO:0004992 {source="DOID:3119", source="MONDO:Entailed", source="MONDOLEX:0002516"} ! cancer +is_a: MONDO:0004992 {source="DOID:3119", source="DOID:3119/inferred", source="MONDO:Entailed", source="MONDOLEX:0002516"} ! cancer is_a: MONDO:0021223 {source="MONDO:Entailed", source="MONDOLEX:0002516", source="NCIT:C4890", source="OWLReasoner:Elk-2018-01-09"} ! digestive system neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001007 ! digestive system @@ -38997,6 +39452,7 @@ synonym: "anal fissure" EXACT [DOID:3128] synonym: "anal fissure and fistula" EXACT [DOID:3128] synonym: "anal ulcer" EXACT [DOID:3128] synonym: "anus disease" EXACT [MONDO:patterns/location] +synonym: "anus disease or disorder" EXACT [MONDO:design_pattern] synonym: "disease of anus" EXACT [MONDO:patterns/location_top] synonym: "disorder of anal region" EXACT [] synonym: "disorder of anus" RELATED [MONDO:patterns/location_top] @@ -39012,7 +39468,7 @@ xref: UMLS:C0003462 {source="DOID:3128", source="NCIT:C26695", source="MONDO:equ xref: UMLS:C0016167 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:C1301262 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} is_a: MONDO:0001593 {source="DOID:3128", source="MESH:D001004"} ! rectal disease -is_a: MONDO:0004335 {source="MESH:D001004/inferred", source="MONDO:Redundant", source="NCIT:C26695"} ! digestive system disease +is_a: MONDO:0004335 {source="DOID:3128/inferred", source="MESH:D001004/inferred", source="MONDO:Redundant", source="NCIT:C26695", source="linkedlifedata/inferred"} ! digestive system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001245 ! anus @@ -39026,6 +39482,8 @@ synonym: "acute porphyria" RELATED [DOID:3133] synonym: "hepatic porphyria" EXACT [MESH:D017094, MONDO:0019798] synonym: "hepatic porphyria (disorder)" EXACT [DOID:3133, SCTID:55056006] synonym: "hepatic Porphyrias" RELATED [MESH:D017094] +synonym: "liver porphyria" EXACT [MONDO:design_pattern] +synonym: "porphyria of liver" EXACT [MONDO:design_pattern] synonym: "porphyria, hepatic" RELATED [MESH:D017094] xref: DOID:3133 {source="MONDO:equivalentTo"} xref: GTR:AN0932921 {source="UMLS:CN552491"} @@ -39039,8 +39497,8 @@ xref: SCTID:55056006 {source="DOID:3133", source="MONDO:kboom-pr-0.92/0.83/0.20" xref: UMLS:C0162533 {source="DOID:3133", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C0268328 {source="NCIT:C133887", source="Orphanet:95157"} xref: UMLS:CN552491 {source="MONDO:equivalentTo"} -is_a: MONDO:0005154 {source="MESH:D017094"} ! liver disease -is_a: MONDO:0037939 ! porphyria +is_a: MONDO:0005154 {source="MESH:D017094", source="linkedlifedata"} ! liver disease +is_a: MONDO:0037939 {source="linkedlifedata"} ! porphyria intersection_of: MONDO:0037939 ! porphyria intersection_of: disease_has_location UBERON:0002107 ! liver relationship: excluded_subClassOf MONDO:0016133 {source="Orphanet:95157"} ! rare hereditary metabolic disease with peripheral neuropathy @@ -39101,7 +39559,7 @@ xref: MESH:D017520 {source="MONDO:ontobio", source="DOID:3141", source="MONDO:eq xref: SCTID:11528001 {source="DOID:3141"} xref: SCTID:402721001 {source="MONDO:equivalentTo"} xref: UMLS:C0162855 {source="DOID:3141", source="MONDO:equivalentTo"} -is_a: MONDO:0000001 {source="linkedlife/inferred"} ! disease or disorder +is_a: MONDO:0000001 {source="DOID:3141/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! disease or disorder relationship: disease_has_location UBERON:0000014 ! zone of skin relationship: excluded_subClassOf MONDO:0003900 {source="DOID:3141", source="MESH:D017520"} ! connective tissue disease @@ -39254,8 +39712,8 @@ xref: SCTID:126488004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:316 xref: SCTID:363230005 {source="DOID:3165"} xref: UMLS:C0037286 {source="DOID:3165", source="MONDO:equivalentTo", source="NCIT:C3372"} xref: UMLS:C1123023 {source="ONCOTREE:SKIN"} -is_a: MONDO:0005070 {source="MESH:D012878/inferred", source="MONDO:Entailed", source="MONDOLEX:0002531", source="NCIT:C3372/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! neoplasm (disease) -is_a: MONDO:0005093 {source="MESH:D012878", source="MONDO:Entailed", source="NCIT:C3372", source="OWLReasoner:Elk-2018-03-06", source="linkedlifedata"} ! skin disease +is_a: MONDO:0005070 {source="DOID:3165/inferred", source="MESH:D012878/inferred", source="MONDO:Entailed", source="MONDOLEX:0002531", source="NCIT:C3372/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) +is_a: MONDO:0005093 {source="MESH:D012878", source="MONDO:Entailed", source="NCIT:C3372", source="OWLReasoner:Elk-2018-03-06", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000014 ! zone of skin @@ -39291,11 +39749,11 @@ xref: NCIT:C79951 {source="MONDO:equivalentTo", source="DOID:3172"} xref: SCTID:189620009 {source="DOID:3172"} xref: SCTID:86143001 {source="DOID:3172"} xref: UMLS:C0205650 {source="MONDO:equivalentTo", source="DOID:3172"} -is_a: MONDO:0002363 {source="DOID:3172"} ! papilloma is_a: MONDO:0004972 {source="MONDO:Entailed", source="NCIT:C79951"} ! adenoma is_a: MONDO:0021096 {source="MONDO:Redundant", source="NCIT:C79951"} ! papillary epithelial neoplasm intersection_of: MONDO:0004972 {source="NCIT:C79951"} ! adenoma intersection_of: MONDO:0021096 {source="NCIT:C79951"} ! papillary epithelial neoplasm +relationship: excluded_subClassOf MONDO:0002363 {source="DOID:3172"} ! papilloma [Term] id: MONDO:0002534 @@ -39342,8 +39800,8 @@ xref: SCTID:255184001 {source="DOID:3178", source="MONDO:kboom-pr-1.00/0.91/29.6 xref: SCTID:269639005 {source="DOID:3178"} xref: UMLS:C0347390 {source="NCIT:C4614", source="DOID:3178", source="MONDO:equivalentTo"} is_a: MONDO:0002363 {source="DOID:3178", source="MONDO:Entailed", source="NCIT:C4614"} ! papilloma -is_a: MONDO:0002531 {source="DOID:3178", source="MONDO:Redundant", source="NCIT:C4614/inferred", source="linkedlifedata"} ! skin neoplasm -is_a: MONDO:0021440 {source="MONDO:Entailed", source="NCIT:C4614/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of skin +is_a: MONDO:0002531 {source="DOID:3178", source="MONDO:Redundant", source="NCIT:C4614/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin neoplasm +is_a: MONDO:0021440 {source="MONDO:Entailed", source="NCIT:C4614/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of skin is_a: MONDO:0021634 {source="MONDO:Entailed", source="NCIT:C4614/inferred", source="OWLReasoner:Elk-2018-01-14"} ! epithelial skin neoplasm intersection_of: MONDO:0002363 ! papilloma intersection_of: disease_has_location UBERON:0000014 ! zone of skin @@ -39378,6 +39836,7 @@ replaced_by: MONDO:0016695 id: MONDO:0002540 name: childhood oligodendroglioma def: "An oligodendroglioma that arises from the central nervous system and occurs during childhood." [NCIT:C4045] +synonym: "oligodendroglioma of childhood" EXACT [MONDO:design_pattern] synonym: "pediatric oligodendroglioma" EXACT [DOID:3183, NCIT:C4045] xref: DOID:3183 {source="MONDO:equivalentTo"} xref: MESH:D009837 {source="MONDO:subClassOf", source="DOID:3183"} @@ -39400,7 +39859,7 @@ xref: DOID:3184 {source="MONDO:equivalentTo"} xref: NCIT:C4535 {source="DOID:3184", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:254950006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3184", source="MONDO:equivalentTo"} xref: UMLS:C0346295 {source="NCIT:C4535", source="DOID:3184", source="MONDO:equivalentTo"} -is_a: MONDO:0002542 {source="MONDO:Redundant", source="NCIT:C4535"} ! spinal cord glioma +is_a: MONDO:0002542 {source="DOID:3184", source="MONDO:Redundant", source="NCIT:C4535"} ! spinal cord glioma is_a: MONDO:0003473 {source="OWLReasoner:Elk-2018-01-09"} ! spinal cord ependymoma is_a: MONDO:0016695 {source="DOID:3184", source="MONDO:Entailed", source="MONDOLEX:0002541", source="NCIT:C4535"} ! oligodendroglioma intersection_of: MONDO:0016695 ! oligodendroglioma @@ -39415,6 +39874,7 @@ synonym: "glial tumor of spinal cord" EXACT [NCIT:C4534] synonym: "glial tumor of spinal cord (disorder)" EXACT [DOID:3185, SCTID:254946004] synonym: "glioma of spinal cord" EXACT [DOID:3185] synonym: "glioma of spinal cord (disorder)" EXACT [DOID:3185, SCTID:254947008] +synonym: "malignant glioma of spinal cord" EXACT [MONDO:design_pattern] synonym: "spinal cord glial neoplasm" EXACT [NCIT:C4534] synonym: "spinal cord glial tumor" EXACT [NCIT:C4534] synonym: "spinal cord glioma" EXACT [NCIT:C4534] @@ -39439,6 +39899,7 @@ synonym: "adult brain oligodendroglioma" EXACT [DOID:3186] synonym: "adult oligodendroglioma" EXACT [NCIT:C4014] synonym: "grade II adult oligodendroglial tumor" EXACT [DOID:3186, NCIT:C4014] synonym: "oligodendroglioma" EXACT [NCIT:C4014] +synonym: "oligodendroglioma of adults" EXACT [MONDO:design_pattern] xref: DOID:3186 {source="MONDO:equivalentTo"} xref: MESH:D009837 {source="DOID:3186", source="MONDO:subClassOf"} xref: NCIT:C4014 {source="DOID:3186", source="MONDO:equivalentTo"} @@ -39461,7 +39922,7 @@ xref: DOID:3187 {source="MONDO:equivalentTo"} xref: NCIT:C9377 {source="DOID:3187", source="MONDO:equivalentTo"} xref: SCTID:254940005 {source="DOID:3187", source="MONDO:equivalentTo"} xref: UMLS:C0346286 {source="DOID:3187", source="MONDO:equivalentTo", source="NCIT:C9377"} -is_a: MONDO:0005499 {source="DOID:3187", source="MONDO:Entailed"} ! brain glioma +is_a: MONDO:0005499 {source="DOID:3187", source="MONDO:Entailed", source="linkedlifedata/inferred"} ! brain glioma is_a: MONDO:0016695 {source="DOID:3187", source="MONDO:Entailed", source="MONDOLEX:0002544", source="NCIT:C9377"} ! oligodendroglioma intersection_of: MONDO:0016695 ! oligodendroglioma intersection_of: disease_has_location UBERON:0000955 ! brain @@ -39474,6 +39935,7 @@ synonym: "disease of spinal cord" EXACT [MONDO:patterns/location_top] synonym: "disorder of spinal cord" RELATED [MONDO:patterns/location_top] synonym: "myelopathy" RELATED [DOID:319] synonym: "spinal cord disease" EXACT [MONDO:patterns/location] +synonym: "spinal cord disease or disorder" EXACT [MONDO:design_pattern] xref: COHD:135526 {source="MONDO:equivalentTo"} xref: DOID:319 {source="MONDO:equivalentTo"} xref: ICD10:G95.9 {source="DOID:319"} @@ -39489,7 +39951,7 @@ xref: SCTID:267695005 {source="DOID:319"} xref: SCTID:48522003 {source="DOID:319", source="MONDO:kboom-pr-1.00/0.91/28.77", source="MONDO:equivalentTo"} xref: SCTID:95648003 {source="DOID:319"} xref: UMLS:C0037928 {source="DOID:319", source="MONDO:equivalentTo"} -is_a: MONDO:0002602 {source="DOID:319", source="MESH:D013118", source="MONDO:Entailed", source="linkedlife"} ! central nervous system disease +is_a: MONDO:0002602 {source="DOID:319", source="MESH:D013118", source="MONDO:Entailed", source="NCIT:C97110", source="linkedlifedata"} ! central nervous system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002240 ! spinal cord @@ -39530,7 +39992,7 @@ xref: UMLS:C0854906 {source="ORDO:252164/e", source="Orphanet:252164"} xref: UMLS:CN202001 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002547 {source="NCIT:C3269", source="ONCOTREE:SCHW"} ! nerve sheath neoplasm is_a: MONDO:0016752 {source="Orphanet:252164"} ! benign peripheral nerve sheath tumor -intersection_of: MONDO:0002173 ! neuroma +intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_arises_from_structure CL:0002573 ! Schwann cell relationship: has_modifier MONDO:0024491 {source="NCIT:C3269"} ! tumor grade 1, general grading system property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4767/schwannoma xsd:anyURI {source="GARD:0004767"} @@ -39632,7 +40094,7 @@ xref: NCIT:C5830 {source="DOID:3198", source="exact-label-match", source="MONDO: xref: SCTID:126978008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3198", source="MONDO:equivalentTo"} xref: UMLS:C1263903 {source="NCIT:C5830", source="DOID:3198", source="MONDO:equivalentTo"} is_a: MONDO:0001810 {source="MONDO:Entailed", source="NCIT:C5830", source="OWLReasoner:2017", source="linkedlifedata"} ! hypoglossal nerve disease -is_a: MONDO:0002633 {source="MONDO:Redundant", source="NCIT:C5830", source="linkedlifedata"} ! cranial nerve neoplasm +is_a: MONDO:0002633 {source="DOID:3198", source="MONDO:Redundant", source="NCIT:C5830", source="linkedlifedata"} ! cranial nerve neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001650 ! hypoglossal nerve @@ -39663,7 +40125,7 @@ xref: SCTID:192896006 {source="DOID:320"} xref: SCTID:192903006 {source="DOID:320"} xref: SCTID:29774004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:320", source="MONDO:equivalentTo"} xref: UMLS:C0154685 {source="DOID:320", source="MONDO:equivalentTo"} -is_a: MONDO:0002545 {source="DOID:320", source="linkedlife", source="linkedlifedata"} ! spinal cord disease +is_a: MONDO:0002545 {source="DOID:320", source="linkedlifedata", source="linkedlifedata/inferred"} ! spinal cord disease [Term] id: MONDO:0002553 @@ -39722,6 +40184,7 @@ synonym: "schwannoma of fifth cranial nerve" EXACT [NCIT:C4655] synonym: "schwannoma of the fifth cranial nerve" EXACT [NCIT:C4655] synonym: "schwannoma of the trigeminal nerve" EXACT [NCIT:C4655] synonym: "schwannoma of trigeminal nerve" EXACT [NCIT:C4655] +synonym: "trigeminal nerve schwannoma" EXACT [MONDO:design_pattern] synonym: "trigeminal neurilemmoma" EXACT [DOID:3202, NCIT:C4655] synonym: "trigeminal schwannoma" EXACT [NCIT:C4655] synonym: "trigeminal schwannoma (disorder)" EXACT [DOID:3202, SCTID:277185000] @@ -39730,7 +40193,7 @@ xref: ICD9:215.9 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4655 {source="DOID:3202", source="MONDO:equivalentTo"} xref: SCTID:277185000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3202", source="MONDO:equivalentTo"} xref: UMLS:C0349582 {source="NCIT:C4655", source="DOID:3202", source="MONDO:equivalentTo"} -is_a: MONDO:0001420 {source="DOID:3202", source="NCIT:C4655", source="linkedlifedata"} ! trigeminal nerve neoplasm +is_a: MONDO:0001420 {source="DOID:3202", source="NCIT:C4655", source="linkedlifedata", source="linkedlifedata/inferred"} ! trigeminal nerve neoplasm is_a: MONDO:0002546 {source="DOID:3202", source="NCIT:C4655", source="linkedlifedata"} ! schwannoma intersection_of: MONDO:0002546 ! schwannoma intersection_of: disease_has_location UBERON:0001645 ! trigeminal nerve @@ -39820,7 +40283,7 @@ xref: Orphanet:68366 {source="MONDO:equivalentTo"} xref: SCTID:23585005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3211", source="MONDO:equivalentTo"} xref: UMLS:C0085078 {source="DOID:3211", source="NCIT:C61250", source="MONDO:equivalentTo"} xref: UMLS:CN205533 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0019052 {source="MESH:D016464", source="MONDO:Entailed", source="NCIT:C61250", source="Orphanet:68366", source="linkedlifedata"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:3211", source="MESH:D016464", source="MONDO:Entailed", source="NCIT:C61250", source="Orphanet:68366", source="linkedlifedata", source="linkedlifedata/inferred"} ! inborn errors of metabolism intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_dysfunction_of GO:0005764 ! lysosome @@ -39896,7 +40359,7 @@ xref: SCTID:267682000 {source="DOID:322"} xref: SCTID:41370002 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:322", source="MONDO:equivalentTo"} xref: UMLS:C0026975 {source="DOID:322", source="MONDO:equivalentTo", source="NCIT:C26832"} is_a: MONDO:0002545 {source="DOID:322", source="MESH:D009187", source="MONDO:Entailed", source="linkedlifedata"} ! spinal cord disease -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0002240 ! spinal cord property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7130/myelitis xsd:anyURI {source="GARD:0007130"} @@ -39915,6 +40378,7 @@ synonym: "disease of trachea" EXACT [MONDO:patterns/location_top] synonym: "disorder of trachea" EXACT [NCIT:C35079] synonym: "disorder of trachea" RELATED [MONDO:patterns/location_top] synonym: "trachea disease" EXACT [MONDO:patterns/location] +synonym: "trachea disease or disorder" EXACT [MONDO:design_pattern] synonym: "tracheal disorder" EXACT [NCIT:C35079] xref: DOID:3225 {source="MONDO:equivalentTo"} xref: ICD10:S12.8 {source="DOID:3225"} @@ -39923,7 +40387,7 @@ xref: NCIT:C35079 {source="DOID:3225", source="MONDO:kboom-pr-1.00/0.92/29.66", xref: SCTID:47125007 {source="DOID:3225", source="MONDO:equivalentTo"} xref: UMLS:C0040580 {source="DOID:3225", source="NCIT:C35079", source="MONDO:equivalentTo"} is_a: MONDO:0004867 {source="DOID:3225"} ! upper respiratory tract disease -is_a: MONDO:0005087 {source="linkedlife"} ! respiratory system disease +is_a: MONDO:0005087 {source="DOID:3225/inferred", source="MESH:D014133", source="NCIT:C35079", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0003126 ! trachea @@ -39938,7 +40402,7 @@ xref: MESH:D014135 {source="DOID:3227", source="MONDO:ontobio", source="MONDO:eq xref: NCIT:C78646 {source="DOID:3227", source="MONDO:otherHierarchy"} xref: SCTID:11296007 {source="DOID:3227", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0040583 {source="DOID:3227", source="MONDO:equivalentTo"} -is_a: MONDO:0002567 {source="DOID:3227", source="MESH:D014135"} ! tracheal disease +is_a: MONDO:0002567 {source="DOID:3227", source="MESH:D014135", source="linkedlifedata"} ! tracheal disease [Term] id: MONDO:0002569 @@ -39965,6 +40429,7 @@ name: central nervous system lymphoma def: "A non-Hodgkin or Hodgkin lymphoma that arises in the brain or spinal cord as a primary lesion. There is no evidence of lymphoma outside the central nervous system at the time of diagnosis." [NCIT:C9301] synonym: "central nervous system lymphoma" EXACT [MONDO:0006129, MONDO:patterns/location, NCIT:C9301] synonym: "CNS lymphoma" EXACT [NCIT:C9301] +synonym: "lymphoma of central nervous system" EXACT [MONDO:design_pattern] synonym: "malignant Lymphomas of CNS" EXACT [NCIT:C9301] synonym: "malignant Lymphomas of the CNS" EXACT [NCIT:C9301] synonym: "Microglioma" EXACT [DOID:3234, https://en.wikipedia.org/wiki/Primary_central_nervous_system_lymphoma, SCTID:307649006] @@ -39981,7 +40446,7 @@ xref: SCTID:307649006 {source="MONDO:directSiblingOf", source="DOID:3234"} xref: SCTID:69110006 {source="DOID:3234"} xref: UMLS:C0280803 {source="DOID:3234", source="NCIT:C9301"} xref: UMLS:C0742472 {source="DOID:3234", source="MONDO:equivalentTo"} -is_a: MONDO:0002714 {source="MONDO:Redundant", source="NCIT:C9301"} ! central nervous system cancer +is_a: MONDO:0002714 {source="DOID:3234/inferred", source="MONDO:Redundant", source="NCIT:C9301"} ! central nervous system cancer is_a: MONDO:0003641 {source="DOID:3234", source="MONDO:Entailed", source="NCIT:C9301"} ! central nervous system hematopoietic neoplasm is_a: MONDO:0005062 {source="DOID:3234", source="EFO:1000157", source="MONDO:Entailed", source="NCIT:C9301/inferred"} ! lymphoma is_a: MONDO:0020008 {source="OWLReasoner:2017"} ! rare immune disease @@ -40003,7 +40468,7 @@ xref: SCTID:422588002 {source="DOID:3240", source="MONDO:relatedTo"} xref: SCTID:47839005 {source="DOID:3240"} xref: UMLS:C0032290 {source="DOID:3240", source="MONDO:relatedTo", source="NCIT:C34932"} xref: UMLS:C1761609 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0043905 {source="NCIT:C34932"} ! pneumonitis +is_a: MONDO:0043905 {source="NCIT:C34932", source="linkedlifedata"} ! pneumonitis relationship: disease_has_feature HP:0001250 ! Seizures relationship: disease_has_feature HP:0001297 ! Stroke relationship: disease_has_feature HP:0002090 ! Pneumonia @@ -40072,7 +40537,7 @@ xref: DOID:3254 {source="MONDO:equivalentTo"} xref: NCIT:C5860 {source="DOID:3254", source="MONDO:equivalentTo"} xref: UMLS:C2064434 {source="DOID:3254", source="MEDGEN:kboom-pr98-c99", source="NCIT:C5860", source="MONDO:equivalentTo"} is_a: MONDO:0002862 {source="DOID:3254", source="MONDO:Entailed"} ! bile duct sarcoma -is_a: MONDO:0005212 {source="NCIT:C5860"} ! rhabdomyosarcoma (disease) +is_a: MONDO:0005212 {source="DOID:3254", source="NCIT:C5860"} ! rhabdomyosarcoma (disease) is_a: MONDO:0024658 {source="MONDOLEX:0002577", source="NCIT:C5860"} ! extrahepatic bile duct sarcoma intersection_of: MONDO:0005212 ! rhabdomyosarcoma (disease) intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct @@ -40141,7 +40606,7 @@ xref: ONCOTREE:SCRMS {source="MONDO:equivalentTo"} xref: SCTID:128749008 {source="DOID:3260"} xref: SCTID:404055006 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo", source="DOID:3260"} xref: UMLS:C1266134 {source="NCIT:C6519", source="MONDO:equivalentTo", source="DOID:3260"} -is_a: MONDO:0005212 {source="ONCOTREE:SCRMS"} ! rhabdomyosarcoma (disease) +is_a: MONDO:0005212 {source="DOID:3260/inferred", source="NCIT:C6519/inferred", source="ONCOTREE:SCRMS", source="linkedlifedata"} ! rhabdomyosarcoma (disease) relationship: excluded_subClassOf MONDO:0009993 {source="DOID:3260"} ! embryonal rhabdomyosarcoma (disease) [Term] @@ -40189,23 +40654,24 @@ replaced_by: MONDO:0017987 [Term] id: MONDO:0002585 -name: proliferative type fibrocystic change of breast -def: "Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia is present." [NCIT:P378] -synonym: "breast fibrocystic change, proliferative type without atypia" EXACT [NCIT:C5204] -synonym: "fibrocystic change, proliferative type with atypia" EXACT [DOID:3274] -synonym: "fibrocystic change, proliferative type with atypia (morphologic abnormality)" EXACT [DOID:3274, SCTID:35813005] -synonym: "fibrocystic disease, proliferative type with atypia" EXACT [DOID:3274] -synonym: "proliferating breast lesion without atypia" EXACT [NCIT:C5204] -synonym: "proliferating lesion of breast without atypia" EXACT [DOID:3274] -synonym: "proliferating lesion of the breast without atypia" EXACT [DOID:3274, NCIT:C5204] -synonym: "proliferative fibrocystic change" EXACT [DOID:3274, NCIT:C6940] +name: breast fibrocystic change, proliferative type +def: "Breast fibrocystic change characterized by the presence of epithelial cell hyperplasia. Epithelial atypia may be present or absent." [NCIT:C6940] +synonym: "Benign Proliferative Breast Disease" EXACT [NCIT:C6940] +synonym: "benign proliferative breast disease" EXACT [NCIT:C6940] +synonym: "Breast Fibrocystic Change, Proliferative Type" EXACT [NCIT:C6940] +synonym: "Proliferative Breast Disease" EXACT [NCIT:C6940] +synonym: "Proliferative Breast Lesion" EXACT [NCIT:C6940] +synonym: "Proliferative Fibrocystic Change" EXACT [NCIT:C6940] +synonym: "proliferative fibrocystic change" BROAD [DOID:3274] +synonym: "Proliferative Type Fibrocystic Change of Breast" EXACT [NCIT:C6940] +synonym: "proliferative type fibrocystic change of breast" EXACT [] +synonym: "Proliferative Type Fibrocystic Change of the Breast" EXACT [NCIT:C6940] xref: DOID:3274 {source="MONDO:equivalentTo"} -xref: NCIT:C5204 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.77/0.08"} +xref: NCIT:C6940 {source="MONDO:equivalentTo"} xref: NCIT:C8365 {source="DOID:3274"} xref: SCTID:35813005 {source="DOID:3274"} xref: UMLS:C0334056 {source="DOID:3274", source="MONDO:equivalentTo"} -xref: UMLS:C1335500 {source="NCIT:C5204", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005219 {source="DOID:3274", source="NCIT:C5204/inferred"} ! breast fibrocystic disease +is_a: MONDO:0005219 {source="DOID:3274", source="NCIT:C6940"} ! breast fibrocystic disease [Term] id: MONDO:0002586 @@ -40222,6 +40688,7 @@ synonym: "malignant thymus neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant Thymus tumor" EXACT [NCIT:C4962] synonym: "malignant tumor of the Thymus" EXACT [NCIT:C4962] synonym: "malignant tumor of Thymus" EXACT [NCIT:C4962] +synonym: "neoplasm of thymus" EXACT [DOID:3277] synonym: "neoplasm of thymus (disorder)" BROAD [DOID:3277, SCTID:127231009] synonym: "thymic neoplasm" BROAD [CSP2005:2004-8826, DOID:3277] synonym: "thymic tumor" BROAD [DOID:3277, NCIT:C3412] @@ -40332,7 +40799,7 @@ xref: SCTID:25157001 {source="DOID:3292"} xref: SCTID:359811007 {source="DOID:3292"} xref: SCTID:359814004 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:3292", source="MONDO:equivalentTo"} xref: UMLS:C0276180 {source="NCIT:C128421", source="DOID:3292", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="DOID:3292", source="MESH:D045908/inferred", source="MONDO:Entailed", source="MONDOLEX:0002594", source="NCIT:C128421", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:3292", source="MESH:D045908/inferred", source="MONDO:Entailed", source="MONDOLEX:0002594", source="NCIT:C128421", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:10244 ! Monkeypox virus relationship: disease_has_feature HP:0002716 ! Lymphadenopathy @@ -40348,7 +40815,7 @@ xref: ICD9:999.0 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D014615 {source="DOID:3298", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:111852003 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:3298", source="MONDO:equivalentTo"} xref: UMLS:C0042214 {source="DOID:3298", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="DOID:3298", source="MESH:D014615/inferred", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:3298", source="MESH:D014615/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease relationship: realized_in_response_to_stimulus NCBITaxon:10245 ! Vaccinia virus [Term] @@ -40435,7 +40902,7 @@ xref: SCTID:36591000119102 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MON xref: SCTID:55818009 {source="DOID:3307"} xref: UMLS:C0039538 {source="NCIT:C3403", source="DOID:3307"} xref: UMLS:C0238451 {source="ONCOTREE:TT"} -is_a: MONDO:0002510 {source="MESH:D013724"} ! germ cell and embryonal cancer +is_a: MONDO:0002510 {source="DOID:3307", source="MESH:D013724"} ! germ cell and embryonal cancer is_a: MONDO:0018080 {source="linkedlifedata"} ! rare germ cell tumor is_a: MONDO:0021656 {source="NCIT:C3403", source="ONCOTREE:TT"} ! nongerminomatous germ cell tumor @@ -40445,6 +40912,7 @@ name: central nervous system disease def: "A disease involving the central nervous system." [MONDO:DesignPattern] synonym: "central nervous disease" EXACT [DOID:331] synonym: "central nervous system disease" EXACT [MONDO:patterns/location, NCIT:C2934] +synonym: "central nervous system disease or disorder" EXACT [MONDO:design_pattern] synonym: "central nervous system disorder" EXACT [NCIT:C2934] synonym: "disease of central nervous system" EXACT [MONDO:patterns/location_top] synonym: "disorder of central nervous system" EXACT [MONDO:patterns/location_top, NCIT:C2934] @@ -40466,7 +40934,7 @@ xref: SCTID:267700003 {source="DOID:331"} xref: SCTID:267702006 {source="DOID:331"} xref: SCTID:275539005 {source="DOID:331"} xref: UMLS:C0007682 {source="NCIT:C2934", source="DOID:331", source="MONDO:equivalentTo"} -is_a: MONDO:0005071 {source="DOID:331", source="MESH:D002493", source="MONDO:Entailed", source="NCIT:C2934", source="linkedlife"} ! nervous system disorder +is_a: MONDO:0005071 {source="DOID:331", source="MESH:D002493", source="MONDO:Entailed", source="NCIT:C2934", source="linkedlifedata"} ! nervous system disorder intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001017 ! central nervous system @@ -40511,7 +40979,10 @@ synonym: "liver PEComa" EXACT [NCIT:C27485] xref: DOID:3317 {source="MONDO:equivalentTo"} xref: NCIT:C27485 {source="DOID:3317", source="MONDO:kboom-pr-1.00/0.91/25.91", source="MONDO:equivalentTo"} xref: UMLS:C1333962 {source="NCIT:C27485", source="DOID:3317", source="MONDO:equivalentTo"} +is_a: MONDO:0002603 {source="NCIT:C27485"} ! angiomyolipoma is_a: MONDO:0004721 {source="DOID:3317"} ! liver neoplasm +intersection_of: MONDO:0002603 ! angiomyolipoma +intersection_of: disease_has_location UBERON:0002107 ! liver [Term] id: MONDO:0002606 @@ -40572,13 +41043,14 @@ replaced_by: MONDO:0007295 id: MONDO:0002612 name: frontal lobe epilepsy def: "A localization-related (focal) form of epilepsy characterized by seizures which arise in the frontal lobe. A variety of clinical syndromes exist depending on the exact location of the seizure focus. Frontal lobe seizures may be idiopathic (cryptogenic) or caused by an identifiable disease process such as traumatic injuries, neoplasms, or other macroscopic or microscopic lesions of the frontal lobes (symptomatic frontal lobe seizures). (From Adams et al., Principles of Neurology, 6th ed, pp318-9)" [MESH:D017034] +synonym: "epilepsy of frontal lobe" EXACT [MONDO:design_pattern] synonym: "frontal lobe epilepsy" EXACT [MONDO:patterns/location] synonym: "frontal lobe epilepsy (disorder)" EXACT [DOID:3331, SCTID:230394006] xref: DOID:3331 {source="MONDO:equivalentTo"} xref: MESH:D017034 {source="DOID:3331", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:230394006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3331", source="MONDO:equivalentTo"} xref: UMLS:C0085541 {source="DOID:3331", source="MONDO:equivalentTo"} -is_a: MONDO:0005384 {source="DOID:3331", source="MESH:D017034", source="linkedlifedata"} ! partial epilepsy +is_a: MONDO:0005384 {source="DOID:3331", source="MESH:D017034", source="linkedlifedata", source="linkedlifedata/inferred"} ! partial epilepsy intersection_of: MONDO:0005027 ! epilepsy intersection_of: disease_has_location UBERON:0016525 ! frontal lobe @@ -40603,7 +41075,7 @@ xref: SCTID:192489002 {source="DOID:334"} xref: SCTID:268758001 {source="DOID:334"} xref: SCTID:55341008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:334", source="MONDO:equivalentTo"} xref: UMLS:C0019681 {source="NCIT:C92634", source="DOID:334"} -is_a: MONDO:0002028 {source="DOID:334", source="NCIT:C92634", source="linkedlifedata"} ! personality disorder (disease) +is_a: MONDO:0002028 {source="DOID:334", source="NCIT:C92634", source="linkedlifedata", source="linkedlifedata/inferred"} ! personality disorder (disease) [Term] id: MONDO:0002614 @@ -40650,7 +41122,7 @@ xref: NCIT:C6587 {source="DOID:3350"} xref: NCIT:C7059 {source="DOID:3350", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1332517 {source="DOID:3350"} xref: UMLS:C1334699 {source="DOID:3350", source="NCIT:C7059", source="MONDO:equivalentTo"} -is_a: MONDO:0005070 {source="MONDO:Entailed", source="MONDOLEX:0002616", source="NCIT:C7059/inferred", source="OWLReasoner:2017"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="DOID:3350/inferred", source="MONDO:Entailed", source="MONDOLEX:0002616", source="NCIT:C7059/inferred", source="OWLReasoner:2017"} ! neoplasm (disease) intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_arises_from_structure CL:0008019 ! mesenchymal cell @@ -40775,13 +41247,14 @@ def: "A rare aggressive malignant smooth muscle neoplasm, arising from the bone. synonym: "bone leiomyosarcoma" EXACT [NCIT:C7154] synonym: "bone tissue leiomyosarcoma" EXACT [MONDO:patterns/location] synonym: "leiomyosarcoma of bone" EXACT [NCIT:C7154] +synonym: "leiomyosarcoma of bone tissue" EXACT [MONDO:design_pattern] xref: DOID:3367 {source="MONDO:equivalentTo"} xref: NCIT:C7154 {source="DOID:3367", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1332579 {source="DOID:3367", source="MONDO:equivalentTo", source="NCIT:C7154"} -is_a: MONDO:0009807 {source="DOID:3367"} ! osteosarcoma (disease) is_a: MONDO:0021054 {source="MONDOLEX:0002624", source="NCIT:C7154"} ! bone sarcoma intersection_of: MONDO:0005058 ! leiomyosarcoma intersection_of: disease_has_location UBERON:0002481 ! bone tissue +relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3367"} ! osteosarcoma (disease) [Term] id: MONDO:0002625 @@ -40852,7 +41325,7 @@ xref: ICD9:239.7 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C5829 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:337", source="MONDO:equivalentTo"} xref: SCTID:126977003 {source="DOID:337", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1263902 {source="DOID:337", source="NCIT:C5829", source="MONDO:equivalentTo"} -is_a: MONDO:0002633 {source="MONDO:Redundant", source="NCIT:C5829", source="linkedlifedata"} ! cranial nerve neoplasm +is_a: MONDO:0002633 {source="DOID:337", source="MONDO:Redundant", source="NCIT:C5829", source="linkedlifedata"} ! cranial nerve neoplasm is_a: MONDO:0002636 {source="MONDO:Entailed", source="NCIT:C5829", source="OWLReasoner:2017", source="linkedlifedata"} ! accessory nerve disease intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0009674 ! accessory XI nerve spinal component @@ -40928,8 +41401,9 @@ xref: ONCOTREE:SCOS {source="MONDO:equivalentTo"} xref: SCTID:12302002 {source="DOID:3377"} xref: SCTID:189882001 {source="DOID:3377"} xref: UMLS:C0279622 {source="DOID:3377", source="NCIT:C4023", source="MONDO:equivalentTo"} -is_a: MONDO:0002631 {source="DOID:3377"} ! conventional osteosarcoma is_a: MONDO:0006974 {source="NCIT:C4023"} ! small cell sarcoma +relationship: disease_has_location UBERON:0002481 ! bone tissue +relationship: excluded_subClassOf MONDO:0002631 {source="DOID:3377"} ! conventional osteosarcoma [Term] id: MONDO:0002631 @@ -40990,14 +41464,18 @@ id: MONDO:0002634 name: liposarcoma of bone def: "A very rare malignant adipose tissue neoplasm that arises from the bone." [NCIT:P378] synonym: "bone liposarcoma" EXACT [NCIT:C7598] +synonym: "bone tissue liposarcoma" EXACT [MONDO:design_pattern] synonym: "liposarcoma of bone" EXACT [NCIT:C7598] +synonym: "liposarcoma of bone tissue" EXACT [MONDO:design_pattern] synonym: "liposarcoma of the bone" EXACT [DOID:3381, NCIT:C7598] xref: DOID:3381 {source="MONDO:equivalentTo"} xref: NCIT:C7598 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo", source="DOID:3381"} xref: UMLS:C1332581 {source="NCIT:C7598", source="MONDO:equivalentTo", source="DOID:3381"} is_a: MONDO:0005060 {source="DOID:3381", source="NCIT:C7598"} ! liposarcoma -is_a: MONDO:0009807 {source="DOID:3381"} ! osteosarcoma (disease) is_a: MONDO:0021054 {source="MONDO:Entailed", source="MONDOLEX:0002634", source="NCIT:C7598"} ! bone sarcoma +intersection_of: MONDO:0005060 ! liposarcoma +intersection_of: disease_has_location UBERON:0002481 ! bone tissue +relationship: excluded_subClassOf MONDO:0009807 {source="DOID:3381"} ! osteosarcoma (disease) [Term] id: MONDO:0002635 @@ -41011,6 +41489,7 @@ synonym: "periodontal disease" EXACT [DOID:3388, SCTID:196354003] synonym: "periodontal disease (disorder)" EXACT [DOID:3388, SCTID:2556008] synonym: "periodontal disorder" EXACT [NCIT:C63743] synonym: "periodontium disease" EXACT [MONDO:patterns/location] +synonym: "periodontium disease or disorder" EXACT [MONDO:design_pattern] synonym: "periodontium disorder" EXACT [CSP2005:0828-4279, DOID:3388] xref: COHD:134398 {source="MONDO:equivalentTo"} xref: DOID:3388 {source="MONDO:equivalentTo"} @@ -41032,6 +41511,7 @@ name: accessory nerve disease def: "A disease involving the accessory XI nerve." [MONDO:DesignPattern] synonym: "accessory nerve disorder" EXACT [NCIT:C26953] synonym: "accessory XI nerve disease" EXACT [MONDO:patterns/location] +synonym: "accessory XI nerve disease or disorder" EXACT [MONDO:design_pattern] synonym: "disease of accessory XI nerve" EXACT [MONDO:patterns/location_top] synonym: "disorder of 11th nerve" EXACT [DOID:339, MTHICD9_2006:352.4, NCIT:C26953] synonym: "disorder of accessory [11th] nerve" EXACT [DOID:339, ICD9CM_2006:352.4] @@ -41047,10 +41527,10 @@ xref: MESH:D020436 {source="DOID:339", source="MONDO:ontobio", source="MONDO:equ xref: NCIT:C26953 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:339", source="MONDO:equivalentTo"} xref: SCTID:84759007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:339", source="MONDO:equivalentTo"} xref: UMLS:C0152180 {source="DOID:339", source="MONDO:equivalentTo", source="NCIT:C26953"} -is_a: MONDO:0002639 {source="DOID:339"} ! glossopharyngeal nerve disease -is_a: MONDO:0003569 {source="MESH:D020436", source="MONDO:Redundant", source="NCIT:C26953", source="linkedlifedata"} ! cranial nerve neuropathy +is_a: MONDO:0003569 {source="DOID:339/inferred", source="MESH:D020436", source="MONDO:Redundant", source="NCIT:C26953", source="linkedlifedata"} ! cranial nerve neuropathy intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002019 ! accessory XI nerve +relationship: excluded_subClassOf MONDO:0002639 {source="DOID:339"} ! glossopharyngeal nerve disease [Term] id: MONDO:0002637 @@ -41098,7 +41578,7 @@ xref: ICD9:239.7 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C5828 {source="exact-label-match", source="DOID:3417", source="MONDO:equivalentTo"} xref: SCTID:126975006 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:3417", source="MONDO:equivalentTo"} xref: UMLS:C1263900 {source="DOID:3417", source="NCIT:C5828", source="MONDO:equivalentTo"} -is_a: MONDO:0002633 {source="MONDO:Entailed", source="NCIT:C5828", source="linkedlifedata"} ! cranial nerve neoplasm +is_a: MONDO:0002633 {source="DOID:3417", source="MONDO:Entailed", source="NCIT:C5828", source="linkedlifedata"} ! cranial nerve neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001649 ! glossopharyngeal nerve @@ -41109,6 +41589,7 @@ def: "A disease involving the glossopharyngeal nerve." [MONDO:DesignPattern] synonym: "disease of glossopharyngeal nerve" EXACT [MONDO:patterns/location_top] synonym: "disorder of glossopharyngeal nerve" RELATED [MONDO:patterns/location_top] synonym: "glossopharyngeal nerve disease" EXACT [MONDO:patterns/location] +synonym: "glossopharyngeal nerve disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:3418 {source="MONDO:equivalentTo"} xref: ICD10:G52 {source="DOID:3418"} xref: ICD9:352 {source="DOID:3418"} @@ -41117,7 +41598,7 @@ xref: SCTID:193098000 {source="DOID:3418"} xref: SCTID:80962007 {source="MONDO:equivalentTo"} xref: UMLS:C0154730 {source="DOID:3418"} xref: UMLS:C0751941 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003569 {source="DOID:3418", source="MONDO:Entailed", source="linkedlife"} ! cranial nerve neuropathy +is_a: MONDO:0003569 {source="DOID:3418", source="MONDO:Entailed", source="linkedlifedata"} ! cranial nerve neuropathy intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001649 ! glossopharyngeal nerve @@ -41157,8 +41638,8 @@ xref: SCTID:126968005 {source="DOID:3419"} xref: SCTID:254971001 {source="DOID:3419"} xref: SCTID:395505000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:3419"} xref: UMLS:C0524802 {source="NCIT:C4801", source="MONDO:equivalentTo", source="DOID:3419"} -is_a: MONDO:0002135 {source="MESH:D019574", source="MONDO:Entailed", source="NCIT:C4801", source="OWLReasoner:2017", source="linkedlife"} ! optic nerve disease -is_a: MONDO:0002633 {source="MESH:D019574", source="NCIT:C4801", source="linkedlifedata"} ! cranial nerve neoplasm +is_a: MONDO:0002135 {source="MESH:D019574", source="MONDO:Entailed", source="NCIT:C4801", source="OWLReasoner:2017", source="linkedlifedata"} ! optic nerve disease +is_a: MONDO:0002633 {source="DOID:3419", source="MESH:D019574", source="NCIT:C4801", source="linkedlifedata"} ! cranial nerve neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000941 ! cranial nerve II @@ -41172,7 +41653,7 @@ xref: DOID:342 {source="MONDO:equivalentTo"} xref: ICD9:442.82 {source="i2s", source="DOID:342", source="MONDO:equivalentTo"} xref: SCTID:40136003 {source="MONDO:kboom-pr-1.00/0.81/10.62", source="DOID:342", source="MONDO:equivalentTo"} xref: UMLS:C0155746 {source="DOID:342", source="MONDO:equivalentTo"} -is_a: MONDO:0000473 {source="DOID:342"} ! arterial disorder +is_a: MONDO:0000473 {source="DOID:342", source="linkedlifedata/inferred"} ! arterial disorder relationship: disease_has_location UBERON:0001533 ! subclavian artery [Term] @@ -41203,7 +41684,7 @@ xref: ICD9:239.7 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C5825 {source="DOID:3421", source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equivalentTo"} xref: SCTID:126970001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3421", source="MONDO:equivalentTo"} xref: UMLS:C1263896 {source="NCIT:C5825", source="DOID:3421", source="MONDO:equivalentTo"} -is_a: MONDO:0002633 {source="MONDO:Entailed", source="NCIT:C5825", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! cranial nerve neoplasm +is_a: MONDO:0002633 {source="DOID:3421", source="MONDO:Entailed", source="NCIT:C5825", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! cranial nerve neoplasm is_a: MONDO:0007002 {source="MONDO:Entailed", source="NCIT:C5825", source="OWLReasoner:2017"} ! trochlear nerve disease intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001644 ! trochlear nerve @@ -41212,9 +41693,13 @@ intersection_of: disease_has_location UBERON:0001644 ! trochlear nerve id: MONDO:0002643 name: vestibular disease def: "Pathological processes of the vestibular labyrinth which contains part of the balancing apparatus. Patients with vestibular diseases show instability and are at risk of frequent falls." [MESH:D015837] +synonym: "disease of vestibular labyrinth" EXACT [MONDO:design_pattern] synonym: "disease of vestibular system" EXACT [MONDO:patterns/location_top] +synonym: "disorder of vestibular labyrinth" EXACT [MONDO:design_pattern] synonym: "disorder of vestibular system" RELATED [MONDO:patterns/location_top] synonym: "vertigo, vestibular disorder" EXACT [DOID:3426, SCTID:267761002] +synonym: "vestibular labyrinth disease" EXACT [MONDO:design_pattern] +synonym: "vestibular labyrinth disease or disorder" EXACT [MONDO:design_pattern] synonym: "vestibular system disease" EXACT [MONDO:patterns/location] xref: DOID:3426 {source="MONDO:equivalentTo"} xref: ICD10:H81 {source="DOID:3426"} @@ -41265,7 +41750,7 @@ xref: ICD9:464.00 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C27305 {source="DOID:3436", source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equivalentTo"} xref: SCTID:441551009 {source="DOID:3436", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0853195 {source="DOID:3436", source="MONDO:equivalentTo", source="NCIT:C27305"} -is_a: MONDO:0002647 {source="MONDO:Redundant", source="NCIT:C27305", source="linkedlifedata"} ! laryngitis +is_a: MONDO:0002647 {source="DOID:3436/inferred", source="MONDO:Redundant", source="NCIT:C27305", source="linkedlifedata", source="linkedlifedata/inferred"} ! laryngitis is_a: MONDO:0004777 {source="DOID:3436"} ! acute laryngitis intersection_of: MONDO:0002647 ! laryngitis intersection_of: realized_in_response_to_stimulus NCBITaxon:10239 ! Viruses @@ -41284,8 +41769,8 @@ xref: MESH:D007827 {source="DOID:3437", source="MONDO:ontobio", source="MONDO:eq xref: NCIT:C26811 {source="DOID:3437", source="MONDO:kboom-pr-0.96/0.70/2.55", source="MONDO:equivalentTo"} xref: SCTID:45913009 {source="DOID:3437", source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0023067 {source="DOID:3437", source="MONDO:equivalentTo", source="NCIT:C26811"} -is_a: MONDO:0004382 {source="DOID:3437", source="MESH:D007827", source="MONDO:Entailed", source="NCIT:C26811/inferred"} ! laryngeal disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0004382 {source="DOID:3437", source="MESH:D007827", source="MONDO:Entailed", source="NCIT:C26811/inferred", source="linkedlifedata"} ! laryngeal disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001737 ! larynx relationship: disease_has_feature HP:0001609 ! Hoarse voice @@ -41298,7 +41783,9 @@ def: "A malignant neoplasm in which there is infiltration of the skin overlying synonym: "breast Paget disease" EXACT [MONDO:patterns/location] synonym: "mammary Paget disease" EXACT [DOID:3443] synonym: "mammary Paget's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant, NCIT:C47857] +synonym: "Paget cell neoplasm" EXACT [DOID:3443] synonym: "Paget disease of the breast" EXACT [NCIT:C47857] +synonym: "Paget's disease" EXACT [DOID:3443] synonym: "Paget's disease of breast" EXACT [NCIT:C47857] synonym: "Paget's disease of the breast" EXACT [DOID:3443, NCIT:C47857] xref: DOID:3443 {source="MONDO:equivalentTo"} @@ -41342,7 +41829,7 @@ synonym: "scrotum carcinoma" EXACT [MONDO:patterns/location] xref: DOID:3445 {source="MONDO:equivalentTo"} xref: NCIT:C6389 {source="DOID:3445", source="MONDO:kboom-pr-0.91/0.79/0.33", source="MONDO:equivalentTo"} xref: UMLS:C1370468 {source="DOID:3445", source="NCIT:C6389", source="MONDO:equivalentTo"} -is_a: MONDO:0004993 {source="MONDO:Entailed", source="MONDOLEX:0002650", source="NCIT:C6389/inferred", source="OWLReasoner:Elk-2018"} ! carcinoma +is_a: MONDO:0004993 {source="DOID:3445", source="MONDO:Entailed", source="MONDOLEX:0002650", source="NCIT:C6389/inferred", source="OWLReasoner:Elk-2018"} ! carcinoma is_a: MONDO:0021112 {source="MONDO:Entailed", source="NCIT:C6389", source="OWLReasoner:Elk-2018-01-05"} ! scrotum cancer intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001300 ! scrotum @@ -41380,7 +41867,7 @@ xref: NCIT:C5600 {source="DOID:3447", source="MONDO:equivalentTo"} xref: SCTID:423607006 {source="DOID:3447", source="MONDO:kboom-pr-0.96/0.91/0.49", source="MONDO:equivalentTo"} xref: UMLS:C1332257 {source="DOID:3447", source="NCIT:C5600", source="MONDO:equivalentTo"} is_a: MONDO:0003199 {source="DOID:3447", source="MONDO:Entailed", source="MONDOLEX:0002652", source="NCIT:C5600", source="linkedlifedata"} ! anal carcinoma -is_a: MONDO:0004970 {source="NCIT:C5600"} ! adenocarcinoma +is_a: MONDO:0004970 {source="DOID:3447/inferred", source="NCIT:C5600", source="linkedlifedata/inferred"} ! adenocarcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0001245 ! anus @@ -41400,7 +41887,7 @@ xref: NCIT:C27817 {source="DOID:3448", source="MONDO:equivalentTo"} xref: SCTID:255104003 {source="DOID:3448"} xref: SCTID:398768004 {source="DOID:3448", source="MONDO:kboom-pr-0.74/0.44/0.23", source="MONDO:equivalentTo"} xref: UMLS:C0221286 {source="DOID:3448", source="NCIT:C27817", source="MONDO:equivalentTo"} -is_a: MONDO:0006360 {source="MONDO:0002653/inferred", source="MONDO:Redundant", source="MONDOLEX:0002653/inferred", source="NCIT:C27817"} ! penile carcinoma +is_a: MONDO:0006360 {source="DOID:3448", source="MONDO:0002653/inferred", source="MONDO:Redundant", source="MONDOLEX:0002653/inferred", source="NCIT:C27817"} ! penile carcinoma is_a: MONDO:0008177 {source="NCIT:C27817"} ! extramammary Paget disease is_a: MONDO:0021165 {source="MONDO:Redundant", source="NCIT:C27817/inferred", source="OWLReasoner:2017"} ! Paget disease intersection_of: MONDO:0021165 ! Paget disease @@ -41415,6 +41902,7 @@ synonym: "disorder of uterus" RELATED [MONDO:patterns/location_top] synonym: "uterine disease" EXACT [NCIT:C26907] synonym: "uterine disorder" EXACT [NCIT:C26907] synonym: "uterus disease" EXACT [MONDO:patterns/location] +synonym: "uterus disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:345 {source="MONDO:equivalentTo"} xref: ICD10:N85.9 {source="DOID:345"} xref: ICD9:621.8 {source="i2s", source="MONDO:relatedTo"} @@ -41427,7 +41915,7 @@ xref: SCTID:156009000 {source="DOID:345"} xref: SCTID:198335006 {source="DOID:345"} xref: SCTID:237068005 {source="DOID:345"} xref: UMLS:C0042131 {source="NCIT:C26907", source="DOID:345", source="MONDO:equivalentTo"} -is_a: MONDO:0002263 {source="DOID:345", source="MESH:D014591", source="MONDO:Entailed", source="NCIT:C26907", source="linkedlife"} ! female reproductive system disease +is_a: MONDO:0002263 {source="DOID:345", source="MESH:D014591", source="MONDO:Entailed", source="NCIT:C26907", source="linkedlifedata"} ! female reproductive system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000995 ! uterus @@ -41475,6 +41963,7 @@ id: MONDO:0002657 name: breast disease def: "A disease involving the breast." [MONDO:DesignPattern] synonym: "breast disease" EXACT [MONDO:patterns/location, NCIT:C26709] +synonym: "breast disease or disorder" EXACT [MONDO:design_pattern] synonym: "breast diseases" EXACT [NCIT:C26709] synonym: "breast disorder" EXACT [NCIT:C26709] synonym: "disease of breast" EXACT [MONDO:patterns/location_top] @@ -41496,7 +41985,7 @@ xref: SCTID:198566004 {source="DOID:3463"} xref: SCTID:266647006 {source="DOID:3463"} xref: SCTID:79604008 {source="DOID:3463", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/8.51"} xref: UMLS:C0006145 {source="DOID:3463", source="NCIT:C26709", source="MONDO:equivalentTo"} -is_a: MONDO:0000651 {source="DOID:3463", source="MONDO:Entailed"} ! thoracic disease +is_a: MONDO:0000651 {source="DOID:3463", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000310 ! breast @@ -41522,7 +42011,7 @@ xref: SCTID:188264002 {source="DOID:3478", source="MONDO:kboom-pr-0.90/0.76/0.46 xref: SCTID:231964001 {source="DOID:3478"} xref: UMLS:C0022079 {source="DOID:3478", source="MONDO:subClassOf"} xref: UMLS:C0346372 {source="DOID:3478", source="NCIT:C4554", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0002289 {source="DOID:3478", source="MONDO:Redundant"} ! iris disease +is_a: MONDO:0002289 {source="DOID:3478", source="MONDO:Redundant", source="NCIT:C4554/inferred", source="linkedlifedata/inferred"} ! iris disease is_a: MONDO:0002659 {source="DOID:3478", source="MONDO:Entailed", source="NCIT:C4554"} ! uveal cancer is_a: MONDO:0021224 {source="MONDO:Entailed", source="NCIT:C4554", source="OWLReasoner:Elk-2018-01-09"} ! iris neoplasm intersection_of: MONDO:0004992 ! cancer @@ -41571,7 +42060,7 @@ xref: SCTID:193962005 {source="DOID:348"} xref: SCTID:267650003 {source="DOID:348"} xref: SCTID:47704002 {source="DOID:348", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0005742 {source="DOID:348", source="MONDO:equivalentTo"} -is_a: MONDO:0003382 {source="DOID:348", source="linkedlife"} ! eyelid disease +is_a: MONDO:0003382 {source="DOID:348", source="linkedlifedata"} ! eyelid disease [Term] id: MONDO:0002661 @@ -41581,6 +42070,7 @@ synonym: "disease of uvea" EXACT [MONDO:patterns/location_top] synonym: "disorder of uvea" RELATED [MONDO:patterns/location_top] synonym: "disorder of uveal tract" RELATED [MONDO:patterns/location_top] synonym: "uvea disease" EXACT [MONDO:patterns/location] +synonym: "uvea disease or disorder" EXACT [MONDO:design_pattern] synonym: "uveal disease" EXACT [NCIT:C26908] synonym: "uveal diseases" RELATED [GARD:0008192] synonym: "uveal disorder" EXACT [NCIT:C26908] @@ -41591,7 +42081,7 @@ xref: MESH:D014603 {source="MONDO:ontobio", source="MONDO:equivalentTo", source= xref: NCIT:C26908 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:3480"} xref: SCTID:95678007 {source="MONDO:equivalentTo", source="DOID:3480"} xref: UMLS:C0042161 {source="NCIT:C26908", source="MONDO:equivalentTo", source="DOID:3480"} -is_a: MONDO:0005328 {source="DOID:3480", source="MESH:D014603", source="MONDO:Entailed", source="NCIT:C26908", source="linkedlife"} ! eye disease +is_a: MONDO:0005328 {source="DOID:3480", source="MESH:D014603", source="MONDO:Entailed", source="NCIT:C26908", source="linkedlifedata"} ! eye disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001768 ! uvea @@ -41707,7 +42197,7 @@ xref: DOID:3502 {source="MONDO:equivalentTo"} xref: EFO:0008490 {source="MONDO:equivalentTo"} xref: NCIT:C6650 {source="DOID:3502", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1332243 {source="DOID:3502", source="MONDO:equivalentTo", source="NCIT:C6650"} -is_a: MONDO:0004970 {source="MONDO:Redundant", source="NCIT:C6650"} ! adenocarcinoma +is_a: MONDO:0004970 {source="DOID:3502/inferred", source="MONDO:Redundant", source="NCIT:C6650"} ! adenocarcinoma is_a: MONDO:0006186 {source="DOID:3502", source="MONDO:Entailed"} ! duodenal adenocarcinoma is_a: MONDO:0017590 {source="DOID:3502", source="EFO:0008490", source="MONDO:Entailed", source="MONDOLEX:0002670", source="NCIT:C6650"} ! carcinoma of the ampulla of vater intersection_of: MONDO:0004970 ! adenocarcinoma @@ -41822,7 +42312,10 @@ is_a: MONDO:0005164 {source="DOID:3517", source="MONDOLEX:0002677", source="NCIT id: MONDO:0002678 name: pediatric fibrosarcoma def: "A malignant neoplasm arising from the deep soft tissues in children. It is characterized by the presence of spindle-shaped fibroblasts and collagenous stroma formation in a herringbone growth pattern." [NCIT:P378] +synonym: "adult fibrosarcoma of childhood" EXACT [MONDO:design_pattern] +synonym: "childhood adult fibrosarcoma" EXACT [MONDO:design_pattern] synonym: "childhood fibrosarcoma" EXACT [NCIT:C8088] +synonym: "pediatric adult fibrosarcoma" EXACT [MONDO:design_pattern] synonym: "pediatric fibrosarcoma" EXACT [NCIT:C8088] xref: DOID:3520 {source="MONDO:equivalentTo"} xref: NCIT:C8088 {source="DOID:3520", source="MONDO:kboom-pr-0.96/0.92/0.17", source="MONDO:equivalentTo"} @@ -41836,6 +42329,7 @@ intersection_of: has_modifier HP:0011463 ! Childhood onset id: MONDO:0002679 name: cerebral infarction def: "An ischemic condition of the brain, producing a persistent focal neurological deficit in the area of distribution of the cerebral arteries." [NCIT:C50486] +synonym: "brain infarction of telencephalon" EXACT [MONDO:design_pattern] synonym: "cerebral infarct" EXACT [DOID:3526, SCTID:155405006, SCTID:266315008] synonym: "cerebral infarction" EXACT [DOID:3526, SCTID:195188006] synonym: "cerebral infarction NOS" RELATED EXCLUDE [DOID:3526, SCTID:195191006] @@ -41844,6 +42338,7 @@ synonym: "cerebral ischemia" EXACT [NCIT:C50486] synonym: "cerebral, infarction" EXACT [NCIT:C50486] synonym: "CVA - cerebral infarction" EXACT [DOID:3526, SCTID:20059004] synonym: "infarction, cerebral" EXACT [NCIT:C50486] +synonym: "telencephalon brain infarction" EXACT [MONDO:design_pattern] xref: COHD:443454 {source="MONDO:equivalentTo"} xref: DOID:3526 {source="MONDO:equivalentTo"} xref: ICD10:I63 {source="DOID:3526"} @@ -41864,7 +42359,7 @@ xref: SCTID:266315008 {source="DOID:3526"} xref: SCTID:432504007 {source="MONDO:kboom-pr-0.84/0.67/0.06", source="DOID:3526", source="MONDO:equivalentTo"} xref: UMLS:C0007785 {source="NCIT:C50486", source="DOID:3526", source="MONDO:equivalentTo"} is_a: MONDO:0005394 {source="DOID:3526", source="MESH:D002544"} ! brain infarction -is_a: MONDO:0011057 {source="MESH:D002544/inferred", source="MONDO:Redundant", source="NCIT:C50486"} ! cerebrovascular disorder +is_a: MONDO:0011057 {source="DOID:3526/inferred", source="MESH:D002544/inferred", source="MONDO:Redundant", source="NCIT:C50486"} ! cerebrovascular disorder intersection_of: MONDO:0005394 ! brain infarction intersection_of: disease_has_location UBERON:0001893 ! telencephalon @@ -41894,7 +42389,9 @@ synonym: "malignant neoplasm of choroid plexus" EXACT [MONDO:patterns/cancer, NC synonym: "malignant neoplasm of the choroid plexus" EXACT [NCIT:C4533] synonym: "malignant tumor of choroid plexus" EXACT [NCIT:C4533] synonym: "malignant tumor of the choroid plexus" EXACT [NCIT:C4533] +synonym: "tumor of choroid plexus" EXACT [DOID:3540] synonym: "tumor of choroid plexus (disorder)" BROAD [DOID:3540, SCTID:254942002] +synonym: "tumor of the Choroid Plexus" EXACT [DOID:3540] xref: DOID:3540 {source="MONDO:equivalentTo"} xref: MESH:D016545 {source="DOID:3540"} xref: NCIT:C3473 {source="DOID:3540", source="MONDO:subClassOf"} @@ -41902,7 +42399,7 @@ xref: NCIT:C4533 {source="MONDO:equivalentTo"} xref: SCTID:254942002 {source="DOID:3540", source="MONDO:subClassOf"} xref: UMLS:C0085138 {source="DOID:3540", source="MONDO:subClassOf"} xref: UMLS:C0346289 {source="NCIT:C4533"} -is_a: MONDO:0001657 {source="MONDO:Redundant", source="NCIT:C4533"} ! brain cancer +is_a: MONDO:0001657 {source="DOID:3540/inferred", source="MONDO:Redundant", source="NCIT:C4533"} ! brain cancer is_a: MONDO:0016717 {source="NCIT:C4533"} ! choroid plexus neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001886 ! choroid plexus @@ -41949,11 +42446,13 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6025/cerebral [Term] id: MONDO:0002683 name: adult choroid plexus neoplasm +def: "A choroid plexus neoplasm that occurs in an adult." [MONDO:design_pattern] synonym: "adult choroid plexus cancer" RELATED [DOID:3542] synonym: "adult choroid plexus neoplasm" EXACT [NCIT:C8568] synonym: "adult choroid plexus tumor" EXACT [NCIT:C8568] synonym: "adult choroid plexus tumor" RELATED [DOID:3542] synonym: "choroid plexus neoplasm" EXACT [NCIT:C8568] +synonym: "choroid plexus neoplasm of adults" EXACT [MONDO:design_pattern] synonym: "neoplasm of adult choroid plexus" EXACT [NCIT:C8568] synonym: "neoplasm of the adult choroid plexus" EXACT [DOID:3542, NCIT:C8568] synonym: "tumor of adult choroid plexus" EXACT [NCIT:C8568] @@ -41993,11 +42492,13 @@ def: "A choroid plexus carcinoma that occurs during childhood." [NCIT:C124292] synonym: "childhood choroid plexus cancer" RELATED [DOID:3545] synonym: "childhood choroid plexus carcinoma" EXACT [NCIT:C124292] synonym: "childhood choroid plexus neoplasm" BROAD [DOID:3545] +synonym: "choroid plexus carcinoma of childhood" EXACT [MONDO:design_pattern] +synonym: "pediatric choroid plexus carcinoma" EXACT [MONDO:design_pattern] xref: DOID:3545 {source="MONDO:equivalentTo"} xref: NCIT:C124292 {source="MONDO:equivalentTo"} xref: NCIT:C42080 {source="DOID:3545", source="MONDO:subClassOf"} xref: UMLS:C0280623 {source="DOID:3545", source="NCIT:C124292", source="MONDO:equivalentTo"} -is_a: MONDO:0002071 {source="NCIT:C124292"} ! supratentorial cancer +is_a: MONDO:0002071 {source="DOID:3545/inferred", source="NCIT:C124292"} ! supratentorial cancer is_a: MONDO:0002681 {source="DOID:3545", source="MONDO:0002685/inferred", source="MONDOLEX:0002685/inferred", source="NCIT:C124292/inferred"} ! choroid plexus cancer is_a: MONDO:0024744 {source="MONDOLEX:0002685", source="NCIT:C124292"} ! childhood choroid plexus neoplasm intersection_of: MONDO:0016718 ! choroid plexus carcinoma @@ -42019,6 +42520,7 @@ synonym: "Cast syndrome" RELATED [GARD:0007712] synonym: "Superior mesenteric artery syndrome" EXACT [DOID:3557, MTHICD9_2006:557.1, SCTID:24988007] synonym: "Superior mesenteric artery syndrome (disorder)" EXACT [DOID:3557, SCTID:197006009] synonym: "superior mesenteric artery syndromic disease" EXACT [MONDO:patterns/location] +synonym: "syndromic disease of superior mesenteric artery" EXACT [MONDO:design_pattern] synonym: "vascular compression of the duodenum" RELATED [GARD:0007712] synonym: "Wilkie syndrome" RELATED [GARD:0007712] xref: DOID:3557 {source="MONDO:equivalentTo"} @@ -42030,7 +42532,7 @@ xref: SCTID:197006009 {source="DOID:3557", source="MONDO:kboom-pr-0.92/0.84/0.21 xref: SCTID:24988007 {source="DOID:3557"} xref: UMLS:C0038828 {source="DOID:3557", source="NCIT:C85175", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:3557", source="MONDO:Entailed", source="MONDOLEX:0002687", source="NCIT:C85175"} ! syndromic disease -is_a: MONDO:0002688 {source="DOID:3557", source="EFO:1001201", source="MESH:D013478"} ! duodenal obstruction +is_a: MONDO:0002688 {source="DOID:3557", source="EFO:1001201", source="MESH:D013478", source="linkedlifedata"} ! duodenal obstruction intersection_of: MONDO:0002254 ! syndromic disease intersection_of: disease_has_location UBERON:0001182 ! superior mesenteric artery property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7712/superior-mesenteric-artery-syndrome xsd:anyURI {source="GARD:0007712"} @@ -42046,8 +42548,8 @@ xref: MESH:D004380 {source="DOID:3558", source="MONDO:ontobio", source="MONDO:eq xref: NCIT:C79548 {source="DOID:3558", source="MONDO:otherHierarchy"} xref: SCTID:95532008 {source="DOID:3558", source="MONDO:equivalentTo"} xref: UMLS:C0013292 {source="DOID:3558", source="MONDO:equivalentTo"} -is_a: MONDO:0002866 {source="DOID:3558", source="MESH:D004380"} ! duodenal disease -is_a: MONDO:0004565 {source="DOID:3558", source="MESH:D004380"} ! intestinal obstruction +is_a: MONDO:0002866 {source="DOID:3558", source="MESH:D004380", source="linkedlifedata"} ! duodenal disease +is_a: MONDO:0004565 {source="DOID:3558", source="MESH:D004380", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal obstruction [Term] id: MONDO:0002689 @@ -42080,6 +42582,7 @@ synonym: "malignant neoplasm of liver, not specified as primary or secondary" EX synonym: "malignant neoplasm of liver, primary" EXACT [DOID:3571, ICD9CM_2006:155.0] synonym: "malignant tumor of liver" EXACT [DOID:3571] synonym: "malignant tumor of liver (disorder)" EXACT [DOID:3571, SCTID:363361004] +synonym: "neoplasm of liver" EXACT [DOID:3571] synonym: "neoplasm of liver (disorder)" EXACT [DOID:3571, SCTID:126851005] synonym: "non-resectable primary hepatic malignant neoplasm" EXACT [DOID:3571] synonym: "primary cancer of liver" RELATED [GARD:0006608] @@ -42114,7 +42617,7 @@ xref: UMLS:C0024620 {source="DOID:3571", source="NCIT:C34803", source="MEDGEN:kb xref: UMLS:C0345904 {source="MEDGEN:kboom-pr92-c94", source="DOID:3571", source="MONDO:equivalentTo"} xref: UMLS:C0854795 {source="MEDGEN:kboom-pr87-c94", source="DOID:3571", source="MONDO:equivalentTo"} is_a: MONDO:0002516 {source="DOID:3571", source="MONDO:Entailed", source="NCIT:C34803/inferred"} ! digestive system cancer -is_a: MONDO:0005154 {source="DOID:3571", source="MONDO:Redundant", source="linkedlife/inferred"} ! liver disease +is_a: MONDO:0005154 {source="DOID:3571", source="MONDO:Redundant", source="NCIT:C34803/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! liver disease is_a: MONDO:0024477 {source="NCIT:C34803"} ! liver and intrahepatic bile duct neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002107 ! liver @@ -42187,13 +42690,14 @@ xref: SCTID:128857001 {source="DOID:3577"} xref: SCTID:189738002 {source="DOID:3577"} xref: SCTID:89089007 {source="DOID:3577"} xref: UMLS:C0036769 {source="DOID:3577", source="NCIT:C39976", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006055 {source="NCIT:C39976"} ! sex cord-stromal tumor +is_a: MONDO:0006055 {source="DOID:3577/inferred", source="NCIT:C39976"} ! sex cord-stromal tumor [Term] id: MONDO:0002697 name: ovarian gonadoblastoma (disease) def: "A neoplasm that arises from the ovary and is composed of tissues that resemble dysgerminoma or seminoma and are admixed with sex cord tissues. It is found in children or young adults and usually is associated with secondary sex organs abnormalities. The majority of patients present as phenotypic females with virilization. The minority of patients present as phenotypic males with feminization. It typically affects both gonads. If a malignant germ cell component is present, it may metastasize to other anatomic sites." [NCIT:C39985] synonym: "GBY" BROAD [OMIM:424500] +synonym: "gonadoblastoma of ovary" EXACT [MONDO:design_pattern] synonym: "gonadoblastoma; GBY" BROAD [OMIM:424500] synonym: "ovarian gonadoblastoma" EXACT [MONDO:ambiguous, NCIT:C39985] synonym: "ovary gonadoblastoma" EXACT [MONDO:patterns/location] @@ -42205,7 +42709,7 @@ xref: OMIM:424500 {source="DOID:3301", source="Orphanet:206484", source="ORDO:20 xref: Orphanet:206484 {source="OMIM:424500", source="MONDO:equivalentTo"} xref: SCTID:716594002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1518716 {source="NCIT:C39985", source="DOID:3578", source="MONDO:equivalentTo"} -is_a: MONDO:0010768 {source="MONDO:Entailed", source="MONDOLEX:0002697", source="NCIT:C39985"} ! gonadoblastoma +is_a: MONDO:0010768 {source="DOID:3578", source="MONDO:Entailed", source="MONDOLEX:0002697", source="NCIT:C39985"} ! gonadoblastoma intersection_of: MONDO:0010768 ! gonadoblastoma intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -42213,13 +42717,14 @@ intersection_of: disease_has_location UBERON:0000992 ! ovary id: MONDO:0002698 name: testicular gonadoblastoma (disease) def: "A testicular mixed germ cell-sex cord-stromal tumor. It is usually associated with mixed gonadal dysgenesis and ambiguous genitalia. It is characterized by the presence of nests of large neoplastic germ cells and immature cells that resemble Sertoli cells." [NCIT:C39911] +synonym: "gonadoblastoma of testis" EXACT [MONDO:design_pattern] synonym: "testicular gonadoblastoma" EXACT [MONDO:ambiguous, NCIT:C39911] synonym: "testis gonadoblastoma" EXACT [MONDO:patterns/location] xref: DOID:3579 {source="MONDO:equivalentTo"} xref: HP:0000030 {source="MONDO:otherHierarchy", source="ontobio"} xref: NCIT:C39911 {source="DOID:3579", source="NCIT:C39911", source="MONDO:equivalentTo"} xref: UMLS:C1515283 {source="DOID:3579", source="NCIT:C39911", source="MONDO:equivalentTo"} -is_a: MONDO:0010768 {source="MONDO:Entailed", source="MONDOLEX:0002698", source="NCIT:C39911", source="OWLReasoner:2017"} ! gonadoblastoma +is_a: MONDO:0010768 {source="DOID:3579", source="MONDO:Entailed", source="MONDOLEX:0002698", source="NCIT:C39911", source="OWLReasoner:2017"} ! gonadoblastoma intersection_of: MONDO:0010768 ! gonadoblastoma intersection_of: disease_has_location UBERON:0000473 ! testis @@ -42314,11 +42819,11 @@ synonym: "breast mucinous cystadenocarcinoma" EXACT [MONDO:patterns/location, NC xref: DOID:3609 {source="MONDO:equivalentTo"} xref: NCIT:C40354 {source="DOID:3609", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1511318 {source="NCIT:C40354", source="DOID:3609", source="MONDO:equivalentTo"} -is_a: MONDO:0002707 {source="DOID:3609"} ! breast mucinous carcinoma -is_a: MONDO:0004988 {source="MONDO:Redundant", source="NCIT:C40354"} ! breast adenocarcinoma +is_a: MONDO:0004988 {source="DOID:3609/inferred", source="MONDO:Redundant", source="NCIT:C40354"} ! breast adenocarcinoma is_a: MONDO:0005858 {source="DOID:3609", source="MONDO:Entailed", source="MONDOLEX:0002705", source="NCIT:C40354"} ! mucinous cystadenocarcinoma intersection_of: MONDO:0005858 ! mucinous cystadenocarcinoma intersection_of: disease_has_location UBERON:0000310 ! breast +relationship: excluded_subClassOf MONDO:0002707 {source="DOID:3609"} ! breast mucinous carcinoma [Term] id: MONDO:0002706 @@ -42331,8 +42836,8 @@ xref: DOID:361 {source="MONDO:equivalentTo"} xref: NCIT:C27623 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo", source="DOID:361"} xref: SCTID:61640006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="DOID:361"} xref: UMLS:C0269107 {source="NCIT:C27623", source="MONDO:equivalentTo", source="DOID:361"} -is_a: MONDO:0002256 {source="DOID:361", source="MONDO:Entailed", source="linkedlifedata"} ! cervix disease -is_a: MONDO:0005133 {source="MONDO:Entailed", source="NCIT:C27623", source="linkedlifedata"} ! endometriosis (disease) +is_a: MONDO:0002256 {source="DOID:361", source="MONDO:Entailed", source="NCIT:C27623/inferred", source="linkedlifedata"} ! cervix disease +is_a: MONDO:0005133 {source="MONDO:Entailed", source="NCIT:C27623", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease) intersection_of: MONDO:0005133 ! endometriosis (disease) intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -42377,7 +42882,7 @@ xref: SCTID:35426003 {source="DOID:3612"} xref: SCTID:399463004 {source="DOID:3612", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0035333 {source="DOID:3612", source="NCIT:C115993", source="MONDO:equivalentTo"} is_a: MONDO:0005283 {source="DOID:3612", source="MESH:D012173", source="MONDO:Entailed", source="linkedlifedata"} ! retinal disease -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000966 ! retina @@ -42411,17 +42916,21 @@ replaced_by: MONDO:0006085 id: MONDO:0002712 name: epidural spinal canal angiolipoma def: "An uncommon lipoma characterized by prominent vascularity that arises in the epidural space of the spinal canal." [NCIT:P378] +synonym: "angiolipoma of epidural space" EXACT [MONDO:design_pattern] synonym: "angiolipoma of epidural spinal canal" EXACT [NCIT:C5424] synonym: "angiolipoma of extradural spinal canal" EXACT [DOID:3617, NCIT:C5424] synonym: "angiolipoma of the epidural spinal canal" EXACT [NCIT:C5424] synonym: "angiolipoma of the extradural spinal canal" EXACT [NCIT:C5424] +synonym: "epidural space angiolipoma" EXACT [MONDO:design_pattern] synonym: "extradural spinal canal angiolipoma" EXACT [NCIT:C5424] xref: DOID:3617 {source="MONDO:equivalentTo"} xref: NCIT:C5424 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equivalentTo", source="DOID:3617"} xref: UMLS:C1333416 {source="NCIT:C5424", source="MONDO:equivalentTo", source="DOID:3617"} -is_a: MONDO:0001790 {source="DOID:3617"} ! spinal cord lipoma is_a: MONDO:0002713 {source="DOID:3617", source="NCIT:C5424"} ! epidural spinal canal neoplasm is_a: MONDO:0006085 {source="DOID:3617", source="MONDOLEX:0002712", source="NCIT:C5424/inferred"} ! angiolipoma +intersection_of: MONDO:0006085 ! angiolipoma +intersection_of: disease_has_location UBERON:0003691 ! epidural space +relationship: excluded_subClassOf MONDO:0001790 {source="DOID:3617"} ! spinal cord lipoma [Term] id: MONDO:0002713 @@ -42454,8 +42963,9 @@ xref: EFO:1000923 {source="MONDO:equivalentTo"} xref: MESH:D015174 {source="MONDO:ontobio", source="DOID:3618", source="MONDO:equivalentTo"} xref: NCIT:C3019 {source="DOID:3618", source="MONDO:equivalentTo"} xref: UMLS:C0014536 {source="NCIT:C3019", source="DOID:3618", source="MONDO:equivalentTo"} -is_a: MONDO:0005070 {source="EFO:1000923/inferred", source="MESH:D015174/inferred", source="MONDOLEX:0002713", source="NCIT:C3019/inferred"} ! neoplasm (disease) -relationship: disease_has_location UBERON:0006692 ! vertebral canal +is_a: MONDO:0005070 {source="DOID:3618/inferred", source="EFO:1000923/inferred", source="MESH:D015174/inferred", source="MONDOLEX:0002713", source="NCIT:C3019/inferred"} ! neoplasm (disease) +intersection_of: MONDO:0005070 ! neoplasm (disease) +intersection_of: disease_has_location UBERON:0003691 ! epidural space [Term] id: MONDO:0002714 @@ -42487,6 +42997,7 @@ synonym: "malignant tumor of central nervous system" EXACT [NCIT:C4627] synonym: "malignant tumor of CNS" EXACT [DOID:3620, NCIT:C4627] synonym: "malignant tumor of the central nervous system" EXACT [NCIT:C4627] synonym: "malignant tumor of the CNS" EXACT [NCIT:C4627] +synonym: "neoplasm of central nervous system" EXACT [DOID:3620] synonym: "neoplasm of central nervous system (disorder)" EXACT [DOID:3620, SCTID:126951006] xref: DOID:3620 {source="MONDO:equivalentTo"} xref: EFO:0000326 {source="DOID:3620", source="MONDO:equivalentTo"} @@ -42501,7 +43012,7 @@ xref: SCTID:372062007 {source="DOID:3620"} xref: SCTID:93744007 {source="DOID:3620"} xref: UMLS:C0085136 {source="DOID:3620"} xref: UMLS:C0348374 {source="NCIT:C4627", source="DOID:3620"} -is_a: MONDO:0005872 {source="DOID:3620", source="MESH:D016543", source="MONDO:Entailed", source="MONDOLEX:0002714"} ! nervous system cancer +is_a: MONDO:0005872 {source="DOID:3620", source="MESH:D016543", source="MONDO:Entailed", source="MONDOLEX:0002714", source="NCIT:C4627"} ! nervous system cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001017 ! central nervous system @@ -42542,8 +43053,8 @@ xref: SCTID:93718007 {source="DOID:363"} xref: SCTID:94127009 {source="DOID:363"} xref: UMLS:C0042138 {source="DOID:363"} xref: UMLS:C0153567 {source="NCIT:C3552", source="DOID:363"} -is_a: MONDO:0001416 {source="DOID:363", source="NCIT:C3552"} ! female reproductive organ cancer -is_a: MONDO:0002654 {source="MESH:D014594", source="MONDO:Redundant", source="NCIT:C3552/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! uterine disease +is_a: MONDO:0001416 {source="DOID:363", source="NCIT:C3552", source="linkedlifedata/inferred"} ! female reproductive organ cancer +is_a: MONDO:0002654 {source="DOID:363", source="MESH:D014594", source="MONDO:Redundant", source="NCIT:C3552/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! uterine disease is_a: MONDO:0021353 {source="MONDO:Entailed", source="NCIT:C3552", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! tumor of uterus intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000995 ! uterus @@ -42589,7 +43100,7 @@ xref: DOID:3640 {source="MONDO:equivalentTo"} xref: NCIT:C5441 {source="DOID:3640", source="MONDO:equivalentTo"} xref: Orphanet:252018 {source="MONDO:equivalentTo"} xref: UMLS:C1332895 {source="DOID:3640", source="MONDO:equivalentTo", source="NCIT:C5441"} -is_a: MONDO:0002601 {source="MONDO:Entailed", source="NCIT:C5441"} ! teratoma +is_a: MONDO:0002601 {source="DOID:3640", source="MONDO:Entailed", source="NCIT:C5441"} ! teratoma is_a: MONDO:0003000 {source="DOID:3640", source="MONDO:Entailed", source="NCIT:C5441/inferred"} ! central nervous system germ cell tumor is_a: MONDO:0016738 {source="Orphanet:252018"} ! primary germ cell tumor of central nervous system is_a: MONDO:0019500 {source="Orphanet:252018"} ! extragonadal teratoma @@ -42673,14 +43184,16 @@ synonym: "tumor of olfactory nerve" EXACT [DOID:366, MONDO:patterns/neoplasm, NC synonym: "tumor of the first cranial nerve" EXACT [NCIT:C5121] synonym: "tumor of the olfactory nerve" EXACT [NCIT:C5121] xref: DOID:366 {source="MONDO:equivalentTo"} +xref: DOID:8256 {source="MONDO:equivalentTo"} xref: ICD9:239.7 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C5121 {source="DOID:366", source="MONDO:equivalentTo"} xref: SCTID:126967000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:366", source="MONDO:equivalentTo"} xref: UMLS:C0346319 {source="DOID:366", source="MONDO:equivalentTo", source="NCIT:C5121"} -is_a: MONDO:0002633 {source="MONDO:Redundant", source="NCIT:C5121", source="linkedlifedata"} ! cranial nerve neoplasm +is_a: MONDO:0002633 {source="DOID:366/inferred", source="DOID:8256/inferred", source="MONDO:Redundant", source="NCIT:C5121", source="linkedlifedata"} ! cranial nerve neoplasm is_a: MONDO:0002727 {source="MONDO:Entailed", source="NCIT:C5121", source="OWLReasoner:2017", source="linkedlifedata"} ! olfactory nerve disease intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001579 ! olfactory nerve +relationship: excluded_subClassOf MONDO:0002722 {source="DOID:8256"} ! olfactory nerve neoplasm [Term] id: MONDO:0002723 @@ -42696,6 +43209,7 @@ synonym: "Mast cell neoplasm" EXACT [NCIT:C9295] synonym: "Mast cell proliferative disease" EXACT [DOID:3664, NCIT:C9295] synonym: "Mast cell tumor" EXACT [NCIT:C9295] synonym: "mast cell tumor" EXACT [DOID:3664, NCIT:C9295] +synonym: "mastocytoma" EXACT [DOID:3664] synonym: "neoplasm of Mast cells" EXACT [NCIT:C9295] synonym: "neoplasm of the Mast cells" EXACT [NCIT:C9295] synonym: "tumor of Mast cells" EXACT [NCIT:C9295] @@ -42710,7 +43224,7 @@ xref: SCTID:190021001 {source="DOID:3664"} xref: SCTID:414653009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3664", source="MONDO:equivalentTo"} xref: SCTID:89796001 {source="DOID:3664"} xref: UMLS:C0334664 {source="NCIT:C9295", source="DOID:3664", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005170 {source="NCIT:C9295"} ! myeloid neoplasm +is_a: MONDO:0005170 {source="EFO:0009000", source="NCIT:C9295"} ! myeloid neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_basis_in_dysfunction_of CL:0000097 ! mast cell @@ -42734,7 +43248,7 @@ xref: ICDO:9740/1 {source="NCIT:C7138"} xref: MESH:D054705 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C7138 {source="MONDO:kboom-pr-1.00/0.91/28.64", source="MONDO:equivalentTo"} xref: UMLS:C0343115 {source="NCIT:C7138"} -is_a: MONDO:0002724 {source="DOID:3666", source="NCIT:C7138/inferred"} ! mast cell neoplasm +is_a: MONDO:0002724 {source="DOID:3666", source="EFO:1001844/inferred", source="NCIT:C7138/inferred"} ! mast cell neoplasm relationship: excluded_subClassOf MONDO:0002898 {source="DOID:3666"} ! skin cancer [Term] @@ -42748,6 +43262,7 @@ synonym: "disorder of olfactory nerve" RELATED [MONDO:patterns/location_top] synonym: "disorder of olfactory nerve (disorder)" EXACT [DOID:367, SCTID:68982002] synonym: "disorder of the 1st nerve" EXACT [NCIT:C27210] synonym: "olfactory nerve disease" EXACT [MONDO:patterns/location] +synonym: "olfactory nerve disease or disorder" EXACT [MONDO:design_pattern] synonym: "olfactory nerve disorder" EXACT [NCIT:C27210] xref: COHD:435253 {source="MONDO:equivalentTo"} xref: DOID:367 {source="MONDO:equivalentTo"} @@ -42757,11 +43272,11 @@ xref: MESH:D020431 {source="MONDO:ontobio", source="DOID:367", source="MONDO:equ xref: NCIT:C27210 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:367", source="MONDO:equivalentTo"} xref: SCTID:68982002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:367", source="MONDO:equivalentTo"} xref: UMLS:C0751937 {source="NCIT:C27210", source="DOID:367", source="MONDO:equivalentTo"} -is_a: MONDO:0002639 {source="DOID:367"} ! glossopharyngeal nerve disease -is_a: MONDO:0003569 {source="MESH:D020431", source="MONDO:Redundant", source="NCIT:C27210", source="linkedlifedata"} ! cranial nerve neuropathy +is_a: MONDO:0003569 {source="DOID:367/inferred", source="MESH:D020431", source="MONDO:Redundant", source="NCIT:C27210", source="linkedlifedata"} ! cranial nerve neuropathy is_a: MONDO:0005560 {source="DOID:367", source="linkedlifedata"} ! brain disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001579 ! olfactory nerve +relationship: excluded_subClassOf MONDO:0002639 {source="DOID:367"} ! glossopharyngeal nerve disease [Term] id: MONDO:0002728 @@ -42811,18 +43326,20 @@ xref: DOID:3674 {source="MONDO:equivalentTo"} xref: EFO:1000512 {source="MONDO:equivalentTo"} xref: NCIT:C8715 {source="DOID:3674", source="EFO:1000512", source="MONDO:equivalentTo"} xref: UMLS:C0854917 {source="NCIT:C8715", source="DOID:3674", source="MONDO:equivalentTo"} -is_a: MONDO:0002728 {source="NCIT:C8715"} ! rhabdoid tumor +is_a: MONDO:0002728 {source="DOID:3674", source="NCIT:C8715"} ! rhabdoid tumor intersection_of: MONDO:0002728 ! rhabdoid tumor intersection_of: disease_has_location UBERON:0002113 ! kidney [Term] id: MONDO:0002730 name: childhood kidney neoplasm +def: "A kidney neoplasm that occurs during childhood." [MONDO:design_pattern] synonym: "childhood kidney neoplasm" EXACT [NCIT:C6563] synonym: "childhood kidney tumor" EXACT [NCIT:C6563] synonym: "childhood renal neoplasm" EXACT [NCIT:C6563] synonym: "childhood renal tumor" EXACT [NCIT:C6563] synonym: "kidney neoplasm" EXACT [NCIT:C6563] +synonym: "kidney neoplasm of childhood" EXACT [MONDO:design_pattern] synonym: "pediatric kidney neoplasm" EXACT [NCIT:C6563] synonym: "pediatric kidney tumor" EXACT [NCIT:C6563] synonym: "pediatric renal neoplasm" EXACT [NCIT:C6563] @@ -42904,15 +43421,6 @@ intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002048 ! lung property_value: confidence "11.000000000000002" xsd:double -[Term] -id: MONDO:0002733 -name: plexopathy -xref: DOID:3688 {source="MONDO:equivalentTo"} -xref: NCIT:C27744 {source="DOID:3688", source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} -xref: UMLS:C1335437 {source="DOID:3688", source="NCIT:C27744", source="MONDO:equivalentTo"} -is_a: MONDO:0005559 {source="DOID:3688"} ! neurodegenerative disease -is_a: MONDO:0024236 {source="MONDO:Redundant", source="NCIT:C27744"} ! degenerative disorder - [Term] id: MONDO:0002734 name: anal mucinous adenocarcinoma @@ -42931,7 +43439,7 @@ xref: DOID:3691 {source="MONDO:equivalentTo"} xref: NCIT:C5606 {source="DOID:3691", source="MONDO:equivalentTo"} xref: UMLS:C1332272 {source="NCIT:C5606", source="DOID:3691", source="MONDO:equivalentTo"} is_a: MONDO:0002652 {source="DOID:3691", source="MONDO:Entailed", source="MONDOLEX:0002734", source="NCIT:C5606/inferred"} ! anus adenocarcinoma -is_a: MONDO:0004957 {source="NCIT:C5606"} ! mucinous adenocarcinoma +is_a: MONDO:0004957 {source="DOID:3691", source="NCIT:C5606"} ! mucinous adenocarcinoma intersection_of: MONDO:0004957 ! mucinous adenocarcinoma intersection_of: disease_has_location UBERON:0001245 ! anus @@ -42965,7 +43473,7 @@ xref: DOID:3693 {source="MONDO:equivalentTo"} xref: NCIT:C27416 {source="DOID:3693", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1332248 {source="DOID:3693", source="MONDO:equivalentTo", source="NCIT:C27416"} is_a: MONDO:0002670 {source="DOID:3693", source="MONDO:Entailed", source="NCIT:C27416"} ! ampulla of vater adenocarcinoma -is_a: MONDO:0004957 {source="MONDO:Redundant", source="NCIT:C27416"} ! mucinous adenocarcinoma +is_a: MONDO:0004957 {source="DOID:3693/inferred", source="MONDO:Redundant", source="NCIT:C27416"} ! mucinous adenocarcinoma intersection_of: MONDO:0004957 ! mucinous adenocarcinoma intersection_of: disease_has_location UBERON:0004913 ! hepatopancreatic ampulla relationship: excluded_subClassOf MONDO:0002739 {source="DOID:3693"} ! extrahepatic bile duct mucinous adenocarcinoma @@ -43006,7 +43514,7 @@ xref: SCTID:359609001 {source="DOID:3697", source="MONDO:equivalentTo"} xref: SCTID:36958006 {source="DOID:3697"} xref: UMLS:C0271432 {source="DOID:3697", source="MONDO:equivalentTo"} xref: UMLS:C2939185 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0001212 {source="DOID:3697", source="MONDO:Entailed", source="MONDOLEX:0002738", source="SCTID:359609001", source="linkedlifedata"} ! non-suppurative otitis media +is_a: MONDO:0001212 {source="DOID:3697", source="MONDO:Entailed", source="MONDOLEX:0002738", source="linkedlifedata"} ! non-suppurative otitis media intersection_of: MONDO:0001212 ! non-suppurative otitis media intersection_of: has_modifier PATO:0000389 ! acute @@ -43224,7 +43732,7 @@ xref: NCIT:C4032 {source="DOID:3711", source="EFO:1000125", source="exact-label- xref: ONCOTREE:BLAD {source="MONDO:equivalentTo"} xref: SCTID:255110003 {source="DOID:3711", source="MONDO:kboom-pr-0.97/0.92/0.83", source="MONDO:equivalentTo"} xref: UMLS:C0279682 {source="DOID:3711", source="MONDO:equivalentTo", source="NCIT:C4032"} -is_a: MONDO:0004970 {source="DOID:3711", source="EFO:1000125", source="MONDO:Entailed", source="MONDOLEX:0002751", source="NCIT:C4032"} ! adenocarcinoma +is_a: MONDO:0004970 {source="DOID:3711", source="EFO:1000125", source="MONDO:Entailed", source="MONDOLEX:0002751", source="NCIT:C4032", source="linkedlifedata/inferred"} ! adenocarcinoma is_a: MONDO:0004986 {source="DOID:3711", source="EFO:1000125", source="MONDO:Entailed", source="MONDOLEX:0002751", source="NCIT:C4032", source="linkedlifedata"} ! urinary bladder carcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0001255 ! urinary bladder @@ -43304,6 +43812,7 @@ name: solitary plasmacytoma of chest wall def: "A solitary plasmacytoma that arises from the chest wall." [NCIT:C6711] synonym: "chest wall plasmacytoma" EXACT [MONDO:patterns/location] synonym: "chest wall solitary plasmacytoma" EXACT [NCIT:C6711] +synonym: "plasmacytoma of chest wall" EXACT [MONDO:design_pattern] synonym: "solitary plasmacytoma of chest wall" EXACT [NCIT:C6711] synonym: "solitary plasmacytoma of the chest wall" EXACT [DOID:3723, NCIT:C6711] xref: DOID:3723 {source="MONDO:equivalentTo"} @@ -43483,7 +43992,7 @@ xref: DOID:3752 {source="MONDO:equivalentTo"} xref: NCIT:C8188 {source="DOID:3752", source="MONDO:equivalentTo"} xref: SCTID:707427000 {source="MONDO:kboom-pr-0.77/0.38/0.77", source="MONDO:equivalentTo"} xref: UMLS:C0280328 {source="DOID:3752", source="MONDO:equivalentTo", source="NCIT:C8188"} -is_a: MONDO:0005595 {source="DOID:3752", source="MONDO:Entailed", source="NCIT:C8188", source="linkedlifedata"} ! laryngeal squamous cell carcinoma +is_a: MONDO:0005595 {source="DOID:3752", source="MONDO:Entailed", source="NCIT:C8188", source="linkedlifedata", source="linkedlifedata/inferred"} ! laryngeal squamous cell carcinoma is_a: MONDO:0006006 {source="DOID:3752", source="MONDO:Entailed", source="NCIT:C8188", source="linkedlifedata"} ! verrucous carcinoma intersection_of: MONDO:0006006 ! verrucous carcinoma intersection_of: disease_has_location UBERON:0001737 ! larynx @@ -43573,33 +44082,9 @@ xref: MESH:D008579 {source="DOID:3772", source="MONDO:subClassOf"} xref: NCIT:C5273 {source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:3772", source="MONDO:equivalentTo"} xref: UMLS:C1334271 {source="DOID:3772", source="NCIT:C5273", source="MONDO:equivalentTo"} is_a: MONDO:0002682 {source="DOID:3772", source="NCIT:C5273"} ! cerebral ventricle cancer -is_a: MONDO:0003772 {source="DOID:3772"} ! cerebral meningioma - -[Term] -id: MONDO:0002773 -name: third ventricle chordoid glioma -def: "A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates." [NCIT:P378] -subset: gard_rare {source="GARD:0010636"} -synonym: "chordoid glioma of 3rd ventricle" EXACT [DOID:3773, NCIT:C6961] -synonym: "chordoid glioma of the 3rd ventricle" EXACT [NCIT:C5592] -synonym: "chordoid glioma of the third ventricle" RELATED [GARD:0010636] -synonym: "chordoid glioma of the third ventricle (who grade II)" EXACT [NCIT:C5592] -synonym: "chordoid glioma of third ventricle" EXACT [DOID:3773, SCTID:128789002] -synonym: "third ventricle chordoid glioma" EXACT [MONDO:patterns/location] -xref: DOID:3773 {source="MONDO:equivalentTo"} -xref: GARD:0010636 {source="MONDO:equivalentTo"} -xref: ICDO:9444/1 {source="NCIT:C5592"} -xref: NCIT:C5592 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="DOID:3773", source="MONDO:equivalentTo"} -xref: ONCOTREE:CHGL {source="MONDO:equivalentTo"} -xref: SCTID:128789002 {source="DOID:3773"} -xref: UMLS:C1322252 {source="DOID:3773", source="NCIT:C5592"} -is_a: MONDO:0002682 {source="DOID:3773", source="MONDO:Entailed", source="NCIT:C5592"} ! cerebral ventricle cancer -is_a: MONDO:0005499 {source="DOID:3773", source="MONDO:Entailed"} ! brain glioma -is_a: MONDO:0016706 {source="DOID:3773", source="MONDO:Entailed"} ! chordoid glioma -is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C5592"} ! glioma -intersection_of: MONDO:0016706 ! chordoid glioma -intersection_of: disease_has_location UBERON:0002286 ! third ventricle -property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10636/chordoid-glioma-of-the-third-ventricle xsd:anyURI {source="GARD:0010636"} +intersection_of: MONDO:0016642 ! meningioma (disease) +intersection_of: disease_has_location UBERON:0004086 ! brain ventricle +relationship: excluded_subClassOf MONDO:0003772 {source="DOID:3772"} ! cerebral meningioma [Term] id: MONDO:0002774 @@ -43625,6 +44110,7 @@ def: "A disease involving the external ear." [MONDO:DesignPattern] synonym: "disease of external ear" EXACT [MONDO:patterns/location_top] synonym: "disorder of external ear" EXACT [MONDO:patterns/location_top] synonym: "external ear disease" EXACT [MONDO:patterns/location] +synonym: "external ear disease or disorder" EXACT [MONDO:design_pattern] synonym: "preauricular cyst" RELATED DUBIOUS [DOID:379] synonym: "preauricular cyst (disorder)" RELATED DUBIOUS [DOID:379, SCTID:18820007] synonym: "preauricular sinus and fistula" EXACT [DOID:379] @@ -43647,9 +44133,9 @@ xref: SCTID:194664001 {source="DOID:379"} xref: SCTID:267751009 {source="DOID:379"} xref: SCTID:49130001 {source="DOID:379", source="MONDO:equivalentTo"} xref: UMLS:C0155388 {source="DOID:379", source="MONDO:equivalentTo"} -is_a: MONDO:0002409 {source="DOID:379"} ! auditory system disease -is_a: MONDO:0021205 {source="linkedlife"} ! disease of ear -is_a: MONDO:0024505 {source="MONDO:metaclass"} ! disorder by anatomical region +is_a: MONDO:0002409 {source="DOID:379", source="linkedlifedata/inferred"} ! auditory system disease +is_a: MONDO:0021205 {source="NCIT:C26972", source="linkedlifedata"} ! disease of ear +is_a: MONDO:0024505 {source="MONDO:metaclass", source="linkedlifedata/inferred"} ! disorder by anatomical region intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001691 ! external ear @@ -43698,6 +44184,7 @@ intersection_of: disease_has_location UBERON:0001017 ! central nervous system id: MONDO:0002781 name: glossopharyngeal nerve paralysis def: "Paralysis of the glossopharyngeal nerve." [NCIT:P378] +synonym: "cranial nerve palsy of glossopharyngeal nerve" EXACT [MONDO:design_pattern] synonym: "glossopharyngeal nerve cranial nerve palsy" EXACT [MONDO:patterns/location] xref: DOID:3816 {source="MONDO:equivalentTo"} xref: NCIT:C27335 {source="DOID:3816", source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} @@ -43734,7 +44221,7 @@ xref: GARD:0007636 {source="MONDO:equivalentTo"} xref: MESH:D012790 {source="MONDO:ontobio", source="DOID:3825", source="MONDO:equivalentTo"} xref: SCTID:24453002 {source="DOID:3825"} xref: UMLS:C0037018 {source="DOID:3825", source="MONDO:equivalentTo"} -is_a: MONDO:0003159 {source="DOID:3825"} ! vascular hemostatic disease +is_a: MONDO:0003159 {source="DOID:3825", source="MESH:D012790"} ! vascular hemostatic disease is_a: MONDO:0018882 {source="DOID:3825", source="MESH:D012790"} ! vasculitis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7636/shwartzman-phenomenon xsd:anyURI {source="GARD:0007636"} @@ -43904,6 +44391,7 @@ id: MONDO:0002794 name: adult medulloblastoma def: "A medulloblastoma arising from the brain, occurring in adults." [NCIT:P378] synonym: "adult brain medulloblastoma" EXACT [DOID:3864] +synonym: "medulloblastoma of adults" EXACT [MONDO:design_pattern] xref: DOID:3864 {source="MONDO:equivalentTo"} xref: MESH:D008527 {source="DOID:3864", source="MONDO:subClassOf"} xref: NCIT:C4011 {source="DOID:3864", source="MONDO:equivalentTo"} @@ -43927,6 +44415,7 @@ synonym: "adult central primitive neuroectodermal tumour" EXACT [NCIT:C5411] synonym: "adult CNS PNET" EXACT [DOID:3865, NCIT:C5411] synonym: "adult CNS primitive neuroectodermal neoplasm" EXACT [NCIT:C5411] synonym: "adult CNS primitive neuroectodermal tumor" EXACT [NCIT:C5411] +synonym: "central nervous system primitive neuroectodermal neoplasm of adults" EXACT [MONDO:design_pattern] xref: DOID:3865 {source="MONDO:equivalentTo"} xref: NCIT:C5411 {source="DOID:3865", source="MONDO:equivalentTo"} xref: UMLS:C1332196 {source="DOID:3865", source="NCIT:C5411", source="MONDO:equivalentTo"} @@ -43960,6 +44449,7 @@ def: "A medulloblastoma occurring in children." [NCIT:C3997] subset: gard_rare {source="GARD:0009350"} synonym: "childhood medulloblastoma" EXACT [NCIT:C3997] synonym: "medulloblastoma" EXACT [NCIT:C3997] +synonym: "medulloblastoma of childhood" EXACT [MONDO:design_pattern] synonym: "medulloblastoma, childhood" RELATED [GARD:0009350] synonym: "pediatric medulloblastoma" EXACT [DOID:3869, NCIT:C3997] xref: DOID:3869 {source="MONDO:equivalentTo"} @@ -43978,6 +44468,7 @@ id: MONDO:0002798 name: childhood central nervous system primitive neuroectodermal neoplasm def: "A central nervous system embryonal tumor, not otherwise specified that occurs in childhood." [NCIT:C5961] synonym: "central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5961] +synonym: "central nervous system primitive neuroectodermal neoplasm of childhood" EXACT [MONDO:design_pattern] synonym: "childhood central nervous system embryonal tumor, NOS" RELATED EXCLUDE [NCIT:C5961] synonym: "childhood central nervous system embryonal tumor, not otherwise specified" RELATED EXCLUDE [NCIT:C5961] synonym: "childhood central nervous system PNET" EXACT [NCIT:C5961] @@ -44035,7 +44526,7 @@ xref: SCTID:40283005 {source="DOID:3875", source="MONDO:kboom-pr-0.92/0.77/0.82" xref: SCTID:64156001 {source="DOID:3875"} xref: UMLS:C0040046 {source="DOID:3875", source="NCIT:C3410", source="MONDO:equivalentTo"} xref: UMLS:C0265057 {source="DOID:3875"} -is_a: MONDO:0004625 {source="DOID:3875", source="MESH:D013924", source="linkedlifedata"} ! phlebitis +is_a: MONDO:0004625 {source="DOID:3875", source="MESH:D013924", source="linkedlifedata", source="linkedlifedata/inferred"} ! phlebitis [Term] id: MONDO:0002801 @@ -44050,7 +44541,7 @@ xref: MESH:D003112 {source="DOID:3876", source="MONDO:ontobio", source="MONDO:eq xref: SCTID:35065006 {source="DOID:3876", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0009377 {source="DOID:3876", source="MONDO:equivalentTo"} is_a: MONDO:0002802 {source="DOID:3876", source="MESH:D003112"} ! functional colonic disease -is_a: MONDO:0002803 {source="DOID:3876", source="EFO:1000871", source="MESH:D003112", source="linkedlife", source="linkedlifedata"} ! intestinal pseudo-obstruction +is_a: MONDO:0002803 {source="DOID:3876", source="EFO:1000871", source="MESH:D003112", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal pseudo-obstruction [Term] id: MONDO:0002802 @@ -44149,7 +44640,7 @@ xref: SCTID:254622008 {source="MONDO:kboom-pr-0.92/0.80/0.76", source="DOID:3904 xref: SCTID:269561006 {source="DOID:3904"} xref: SCTID:363493006 {source="DOID:3904", source="MONDO:subClassOf"} xref: UMLS:C0007121 {source="DOID:3904", source="NCIT:C35875", source="MONDO:equivalentTo"} -is_a: MONDO:0001672 {source="DOID:3904", source="MONDO:Entailed", source="linkedlifedata"} ! bronchus cancer +is_a: MONDO:0001672 {source="DOID:3904", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! bronchus cancer is_a: MONDO:0004993 {source="DOID:3904", source="EFO:1001942/inferred", source="MONDO:0002806/inferred", source="MONDO:Redundant", source="MONDOLEX:0002806/inferred", source="NCIT:C35875/inferred"} ! carcinoma is_a: MONDO:0005138 {source="EFO:1001942", source="MONDOLEX:0002806", source="NCIT:C35875"} ! lung carcinoma intersection_of: MONDO:0004993 ! carcinoma @@ -44173,8 +44664,8 @@ xref: HP:0030077 {source="MONDO:otherHierarchy", source="ontobio"} xref: MESH:D001984 {source="MONDO:ontobio", source="DOID:3906", source="MONDO:equivalentTo"} xref: SCTID:126705004 {source="DOID:3906", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0006264 {source="DOID:3906", source="MONDO:equivalentTo"} -is_a: MONDO:0001358 {source="MESH:D001984", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-10"} ! bronchial disease -is_a: MONDO:0005070 {source="EFO:1000849/inferred", source="MESH:D001984/inferred", source="MONDO:Entailed", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0001358 {source="DOID:3906", source="MESH:D001984", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-10", source="linkedlifedata"} ! bronchial disease +is_a: MONDO:0005070 {source="DOID:3906/inferred", source="EFO:1000849/inferred", source="MESH:D001984/inferred", source="MONDO:Entailed", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0002185 ! bronchus @@ -44247,9 +44738,9 @@ xref: SCTID:269563009 {source="DOID:3924"} xref: SCTID:372065009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3924", source="MONDO:equivalentTo"} xref: UMLS:C0153490 {source="DOID:3924", source="MONDO:equivalentTo"} is_a: MONDO:0001672 {source="DOID:3924", source="MONDO:Entailed", source="MONDOLEX:0002811", source="linkedlifedata"} ! bronchus cancer -is_a: MONDO:0008903 {source="DOID:3924"} ! lung cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002182 ! main bronchus +relationship: excluded_subClassOf MONDO:0008903 {source="DOID:3924"} ! lung cancer [Term] id: MONDO:0002812 @@ -44333,13 +44824,14 @@ id: MONDO:0002816 name: adrenal cortex disease def: "A disease involving the adrenal cortex." [MONDO:DesignPattern] synonym: "adrenal cortex disease" EXACT [MONDO:patterns/location] +synonym: "adrenal cortex disease or disorder" EXACT [MONDO:design_pattern] synonym: "disease of adrenal cortex" EXACT [MONDO:patterns/location_top] synonym: "disorder of adrenal cortex" RELATED [MONDO:patterns/location_top] xref: DOID:3952 {source="MONDO:equivalentTo"} xref: MESH:D000303 {source="DOID:3952", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:129636003 {source="DOID:3952", source="MONDO:equivalentTo"} xref: UMLS:C0001614 {source="DOID:3952", source="MONDO:equivalentTo"} -is_a: MONDO:0005495 {source="DOID:3952", source="MESH:D000303", source="MONDO:Entailed", source="linkedlife"} ! adrenal gland disease +is_a: MONDO:0005495 {source="DOID:3952", source="MESH:D000303", source="MONDO:Entailed", source="linkedlifedata"} ! adrenal gland disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001235 ! adrenal cortex @@ -44360,6 +44852,7 @@ synonym: "malignant neoplasm of adrenal gland" EXACT [DOID:3953, ICD9CM_2006:194 synonym: "malignant neoplasm of the adrenal gland" EXACT [NCIT:C9338] synonym: "malignant tumor of adrenal gland" EXACT [NCIT:C9338] synonym: "malignant tumor of the adrenal gland" EXACT [NCIT:C9338] +synonym: "neoplasm of adrenal gland" EXACT [DOID:3953] synonym: "neoplasm of adrenal gland (disorder)" EXACT [DOID:3953, SCTID:127021009] synonym: "tumor of the adrenal gland" EXACT [DOID:3953, NCIT:C2859] xref: DOID:3953 {source="MONDO:equivalentTo"} @@ -44378,9 +44871,9 @@ xref: SCTID:363355002 {source="DOID:3953"} xref: SCTID:93665005 {source="DOID:3953"} xref: UMLS:C0001624 {source="DOID:3953"} xref: UMLS:C0750887 {source="GARD:0005751", source="DOID:3953", source="NCIT:C9338"} -is_a: MONDO:0005495 {source="DOID:3953", source="MESH:D000310", source="MONDO:Redundant", source="NCIT:C9338/inferred", source="linkedlife"} ! adrenal gland disease +is_a: MONDO:0005495 {source="DOID:3953", source="MESH:D000310", source="MONDO:Redundant", source="NCIT:C9338/inferred", source="linkedlifedata"} ! adrenal gland disease is_a: MONDO:0005941 {source="NCIT:C9338", source="linkedlifedata"} ! retroperitoneal cancer -is_a: MONDO:0021069 {source="MESH:D000310", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05"} ! malignant endocrine neoplasm +is_a: MONDO:0021069 {source="DOID:3953", source="MESH:D000310", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05"} ! malignant endocrine neoplasm is_a: MONDO:0021227 {source="MONDO:Entailed", source="NCIT:C9338", source="OWLReasoner:Elk-2018-01-09"} ! adrenal gland neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002369 ! adrenal gland @@ -44418,6 +44911,7 @@ is_a: MONDO:0005034 {source="DOID:3964", source="MONDOLEX:0002821"} ! thyroid gl id: MONDO:0002822 name: trabecular adenocarcinoma def: "A malignant epithelial neoplasm characterized by the presence of a trabecular glandular architectural pattern." [NCIT:C4068] +synonym: "Merkel cell carcinoma" RELATED [DOID:3965] synonym: "trabecular adenocarcinoma" EXACT [NCIT:C4068] synonym: "trabecular adenocarcinoma (morphologic abnormality)" EXACT [DOID:3965, SCTID:29792007] synonym: "trabecular carcinoma" EXACT [DOID:3965, NCIT:C4068] @@ -44447,7 +44941,7 @@ xref: ICD9:425.8 {source="DOID:3978"} xref: SCTID:195029002 {source="MONDO:equivalentTo"} xref: SCTID:195580005 {source="DOID:3978"} xref: UMLS:C0155699 {source="DOID:3978"} -is_a: MONDO:0004994 {source="DOID:3978"} ! cardiomyopathy +is_a: MONDO:0004994 {source="DOID:3978", source="linkedlifedata"} ! cardiomyopathy [Term] id: MONDO:0002825 @@ -44584,6 +45078,7 @@ intersection_of: disease_has_location UBERON:0002367 ! prostate gland id: MONDO:0002835 name: papillary transitional carcinoma def: "A non-invasive or invasive transitional cell carcinoma characterized by a papillary growth pattern. It may occur in the bladder or the renal pelvis." [NCIT:P378] +synonym: "Papillary transitional cell carcinoma" EXACT [DOID:4012] synonym: "papillary transitional cell carcinoma (morphologic abnormality)" EXACT [DOID:4012, SCTID:12400006] xref: DOID:4012 {source="MONDO:equivalentTo"} xref: NCIT:C4122 {source="MONDO:directSiblingOf", source="DOID:4012"} @@ -44637,9 +45132,9 @@ replaced_by: MONDO:0006406 [Term] id: MONDO:0002839 -name: linitis plastica -def: "A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas." [NCIT:C3190] -synonym: "leather-bottle stomach" EXACT [DOID:4023, SCTID:307594007] +name: leather-bottle stomach +def: "A cancer-related condition in which the gastric wall becomes thickened and rubbery (leather-bottle stomach). It is most often associated with diffuse gastric adenocarcinomas." [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/42, NCIT:C3190] +synonym: "linitis plastica" EXACT [DOID:4023, SCTID:307594007] synonym: "linitis plastica (morphologic abnormality)" EXACT [DOID:4023, SCTID:37995004] xref: DOID:4023 {source="MONDO:equivalentTo"} xref: ICDO:8142/3 {source="NCIT:C3190"} @@ -44648,7 +45143,9 @@ xref: NCIT:C3190 {source="DOID:4023", source="exact-label-match", source="MONDO: xref: SCTID:307594007 {source="DOID:4023"} xref: SCTID:37995004 {source="DOID:4023"} xref: UMLS:C0023743 {source="NCIT:C3190", source="DOID:4023", source="MONDO:equivalentTo"} -is_a: MONDO:0005017 {source="DOID:4023"} ! diffuse gastric adenocarcinoma +is_a: MONDO:0045054 {source="NCIT:C3190"} ! cancer-related condition +relationship: disease_has_location UBERON:0001167 ! wall of stomach +relationship: excluded_subClassOf MONDO:0005017 {source="DOID:4023"} ! diffuse gastric adenocarcinoma [Term] id: MONDO:0002840 @@ -44664,7 +45161,7 @@ xref: NCIT:C27052 {source="MONDO:kboom-pr-1.00/0.86/15.87", source="MONDO:equiva xref: SCTID:196738004 {source="DOID:4030"} xref: SCTID:66329006 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo", source="DOID:4030"} xref: UMLS:C0267154 {source="NCIT:C27052", source="MONDO:equivalentTo", source="DOID:4030"} -is_a: MONDO:0004966 {source="DOID:4030", source="MONDOLEX:0002840", source="NCIT:C27052", source="linkedlife", source="linkedlifedata"} ! gastritis (disease) +is_a: MONDO:0004966 {source="DOID:4030", source="MONDOLEX:0002840", source="NCIT:C27052", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastritis (disease) is_a: MONDO:0016129 {source="NCIT:C27052"} ! eosinophilic gastroenteritis [Term] @@ -44709,7 +45206,7 @@ xref: NCIT:C27051 {source="DOID:4035", source="MONDO:kboom-pr-1.00/0.93/31.20", xref: SCTID:235658000 {source="DOID:4035"} xref: SCTID:360375007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4035", source="MONDO:equivalentTo"} xref: UMLS:C1283271 {source="DOID:4035", source="NCIT:C27051", source="MONDO:equivalentTo"} -is_a: MONDO:0004966 {source="DOID:4035", source="MONDOLEX:0002844", source="NCIT:C27051", source="linkedlifedata"} ! gastritis (disease) +is_a: MONDO:0004966 {source="DOID:4035", source="MONDOLEX:0002844", source="NCIT:C27051", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastritis (disease) [Term] id: MONDO:0002845 @@ -44892,7 +45389,7 @@ xref: ICDO:8921/3 {source="NCIT:C4716"} xref: NCIT:C4716 {source="DOID:4055", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:128750008 {source="DOID:4055"} xref: UMLS:C0431111 {source="NCIT:C4716", source="DOID:4055", source="MONDO:equivalentTo"} -is_a: MONDO:0005089 ! sarcoma +is_a: MONDO:0005089 {source="NCIT:C4716/inferred"} ! sarcoma relationship: disease_has_location UBERON:0001016 ! nervous system relationship: excluded_subClassOf MONDO:0003244 {source="DOID:4055"} ! central nervous system mesenchymal non-meningothelial tumor @@ -45065,6 +45562,7 @@ def: "Pathological conditions in the duodenum region of the small intestine (int synonym: "disease of duodenum" EXACT [MONDO:patterns/location_top] synonym: "disorder of duodenum" RELATED [MONDO:patterns/location_top] synonym: "duodenum disease" EXACT [MONDO:patterns/location] +synonym: "duodenum disease or disorder" EXACT [MONDO:design_pattern] synonym: "duodenum disorder" EXACT [CSP2005:1248-4501, DOID:4072] xref: DOID:4072 {source="MONDO:equivalentTo"} xref: ICD9:537.89 {source="i2s", source="MONDO:relatedTo"} @@ -45073,7 +45571,7 @@ xref: MESH:D004378 {source="MONDO:ontobio", source="DOID:4072", source="MONDO:eq xref: SCTID:196598004 {source="DOID:4072"} xref: SCTID:52182008 {source="MONDO:kboom-pr-1.00/0.81/10.37", source="DOID:4072", source="MONDO:equivalentTo"} xref: UMLS:C0013289 {source="DOID:4072", source="MONDO:equivalentTo"} -is_a: MONDO:0005020 {source="DOID:4072", source="MESH:D004378", source="MONDO:Entailed", source="linkedlifedata"} ! intestinal disease +is_a: MONDO:0005020 {source="DOID:4072", source="MESH:D004378", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002114 ! duodenum @@ -45093,7 +45591,7 @@ xref: NCIT:C3874 {source="DesignPattern", source="MONDO:kboom-pr-0.99/0.78/4.37" xref: SCTID:235966007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DesignPattern", source="DOID:4073", source="MONDO:equivalentTo"} xref: UMLS:C0238337 {source="NCIT:C3874", source="DOID:4073", source="MONDO:equivalentTo"} is_a: MONDO:0005596 {source="MONDO:Entailed", source="MONDOLEX:0002867", source="NCIT:C3874"} ! cystadenocarcinoma -is_a: MONDO:0006047 {source="DOID:4073", source="MONDO:Entailed", source="MONDOLEX:0002867", source="NCIT:C3874", source="linkedlifedata"} ! pancreatic adenocarcinoma +is_a: MONDO:0006047 {source="DOID:4073", source="MONDO:Entailed", source="MONDOLEX:0002867", source="NCIT:C3874", source="linkedlifedata", source="linkedlifedata/inferred"} ! pancreatic adenocarcinoma intersection_of: MONDO:0005596 ! cystadenocarcinoma intersection_of: disease_has_location UBERON:0001264 ! pancreas @@ -45124,6 +45622,7 @@ id: MONDO:0002869 name: heart valve disease def: "A disease involving the cardial valve." [MONDO:DesignPattern] synonym: "cardial valve disease" EXACT [MONDO:patterns/location] +synonym: "cardial valve disease or disorder" EXACT [MONDO:design_pattern] synonym: "disease of cardial valve" EXACT [MONDO:patterns/location_top] synonym: "disorder of cardial valve" RELATED [MONDO:patterns/location_top] synonym: "disorder of heart valve" EXACT [NCIT:C45525] @@ -45219,7 +45718,7 @@ synonym: "testicular Pure germ cell tumor" EXACT [NCIT:C39915] xref: DOID:4087 {source="MONDO:equivalentTo"} xref: NCIT:C39915 {source="DOID:4087", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1514608 {source="DOID:4087", source="NCIT:C39915", source="MONDO:equivalentTo"} -is_a: MONDO:0010108 {source="NCIT:C39915"} ! testicular germ cell tumor +is_a: MONDO:0010108 {source="DOID:4087", source="NCIT:C39915"} ! testicular germ cell tumor [Term] id: MONDO:0002875 @@ -45241,6 +45740,7 @@ name: cervical adenosarcoma def: "A rare malignant mixed epithelial and mesenchymal neoplasm that arises from the cervix and is characterized by the presence of malignant mesenchymal elements and benign epithelial elements." [NCIT:C40229] subset: ordo_disease {source="Orphanet:213792"} synonym: "adenosarcoma of the cervix uteri" EXACT [MONDO:0016279] +synonym: "adenosarcoma of uterine cervix" EXACT [MONDO:design_pattern] synonym: "cervical adenosarcoma" EXACT [NCIT:C40229, Orphanet:213792] synonym: "cervical Muellerian adenosarcoma" EXACT [DOID:4111] synonym: "cervical Mullerian adenosarcoma" EXACT [DOID:4111, NCIT:C40229] @@ -45320,7 +45820,7 @@ xref: NCIT:C6336 {source="DOID:4113", source="exact-label-match", source="MONDO: xref: ONCOTREE:UAS {source="MONDO:equivalentTo"} xref: UMLS:C1336917 {source="DOID:4113", source="NCIT:C6336", source="MONDO:equivalentTo"} xref: UMLS:C2103110 {source="GARD:0009636"} -is_a: MONDO:0002715 {source="MESH:C538232", source="MONDO:Redundant", source="NCIT:C6336/inferred"} ! uterine cancer +is_a: MONDO:0002715 {source="DOID:4113/inferred", source="MESH:C538232", source="MONDO:Redundant", source="NCIT:C6336/inferred"} ! uterine cancer is_a: MONDO:0002879 {source="DOID:4113", source="NCIT:C6336"} ! uterine body mixed cancer is_a: MONDO:0005636 {source="DOID:4113", source="MESH:C538232", source="MONDO:Entailed", source="NCIT:C6336"} ! adenosarcoma intersection_of: MONDO:0005636 ! adenosarcoma @@ -45368,6 +45868,7 @@ intersection_of: disease_has_location UBERON:0009853 ! body of uterus id: MONDO:0002880 name: ovarian adenosarcoma def: "A biphasic neoplasm that arises from the ovary and is characterized by the presence of mullerian-type epithelial tissue in a mesenchymal sarcomatous stroma. The presence of a high grade sarcomatous component is associated with recurrences and metastases." [NCIT:C7317] +synonym: "adenosarcoma of ovary" EXACT [MONDO:design_pattern] synonym: "ovarian adenosarcoma" EXACT [NCIT:C7317] synonym: "ovarian mesodermal adenosarcoma" EXACT [NCIT:C7317] synonym: "ovarian Mullerian adenosarcoma" EXACT [NCIT:C7317] @@ -45377,7 +45878,7 @@ xref: DOID:4115 {source="MONDO:equivalentTo"} xref: NCIT:C7317 {source="DOID:4115", source="MONDO:equivalentTo"} xref: UMLS:C1335169 {source="DOID:4115", source="NCIT:C7317", source="MONDO:equivalentTo"} is_a: MONDO:0005636 {source="MONDO:Entailed", source="NCIT:C7317"} ! adenosarcoma -is_a: MONDO:0008170 {source="MONDO:Entailed", source="NCIT:C7317", source="NCIT:C7317/inferred"} ! ovarian cancer +is_a: MONDO:0008170 {source="DOID:4115/inferred", source="MONDO:Entailed", source="NCIT:C7317", source="NCIT:C7317/inferred"} ! ovarian cancer intersection_of: MONDO:0005636 ! adenosarcoma intersection_of: disease_has_location UBERON:0000992 ! ovary relationship: excluded_subClassOf MONDO:0003792 {source="DOID:4115"} ! ovarian carcinosarcoma @@ -45386,6 +45887,7 @@ relationship: excluded_subClassOf MONDO:0003792 {source="DOID:4115"} ! ovarian c id: MONDO:0002881 name: vaginal adenosarcoma def: "A malignant mixed epithelial and mesenchymal neoplasm that arises from the vagina and is characterized by the presence of a malignant mesenchymal component and a benign or atypical mullerian-type epithelial component." [NCIT:C40277] +synonym: "adenosarcoma of vagina" EXACT [MONDO:design_pattern] synonym: "vagina adenosarcoma" EXACT [MONDO:patterns/location] synonym: "vaginal adenosarcoma" EXACT [NCIT:C40277] synonym: "vaginal MC @@ -102250,14 +103327,14 @@ xref: EFO:0007485 {source="MONDO:equivalentTo"} xref: GARD:0007647 {source="MONDO:equivalentTo"} xref: ICD10:J62 {source="DOID:10325"} xref: ICD10:J62.8 {source="DOID:10325"} -xref: ICD9:502 {source="DOID:10325", source="linkedlife", source="i2s", source="MONDO:relatedTo"} +xref: ICD9:502 {source="DOID:10325", source="linkedlifedata", source="i2s", source="MONDO:relatedTo"} xref: MESH:D012829 {source="DOID:10325", source="EFO:0007485", source="MONDO:equivalentTo"} xref: NCIT:C3369 {source="DOID:10325", source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} xref: SCTID:155590008 {source="DOID:10325"} xref: SCTID:196010000 {source="DOID:10325"} xref: SCTID:805002 {source="DOID:10325", source="MONDO:equivalentTo"} xref: UMLS:C0037116 {source="DOID:10325", source="NCIT:C3369", source="MONDO:equivalentTo"} -is_a: MONDO:0015926 {source="DOID:10325", source="EFO:0007485", source="MESH:D012829", source="MONDO:Entailed", source="NCIT:C3369", source="linkedlifedata"} ! pneumoconiosis +is_a: MONDO:0015926 {source="DOID:10325", source="EFO:0007485", source="MESH:D012829", source="MONDO:Entailed", source="NCIT:C3369", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis intersection_of: MONDO:0015926 ! pneumoconiosis intersection_of: realized_in_response_to_stimulus ENVO:01001282 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7647/silicosis xsd:anyURI {source="GARD:0007647"} @@ -102307,7 +103384,7 @@ xref: SCTID:186234003 {source="DOID:1639"} xref: SCTID:266084009 {source="DOID:1639"} xref: UMLS:C0041324 {source="DOID:1639", source="MONDO:equivalentTo"} is_a: MONDO:0000368 {source="DOID:1639"} ! extrapulmonary tuberculosis -is_a: MONDO:0002081 {source="MESH:D014394/inferred", source="MONDO:Entailed", source="OWLReasoner:2017"} ! musculoskeletal system disease +is_a: MONDO:0002081 {source="MESH:D014394/inferred", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata/inferred"} ! musculoskeletal system disease intersection_of: MONDO:0018076 ! tuberculosis intersection_of: disease_has_location UBERON:0002204 ! musculoskeletal system @@ -102326,8 +103403,8 @@ xref: NCIT:C35030 {source="DOID:10080", source="MONDO:kboom-pr-1.00/0.87/15.87", xref: SCTID:187152002 {source="DOID:10080"} xref: SCTID:31659000 {source="DOID:10080", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.55"} xref: UMLS:C0037753 {source="DOID:10080", source="NCIT:C35030", source="MONDO:equivalentTo"} -is_a: MONDO:0004664 {source="DOID:10080", source="ICD10:B70.1/inferred", source="MESH:D013031/inferred", source="linkedlifedata"} ! helminthiasis -is_a: MONDO:0005135 {source="EFO:0007488", source="MESH:D013031/inferred", source="MONDO:Redundant", source="NCIT:C35030", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0004664 {source="DOID:10080", source="ICD10:B70.1/inferred", source="MESH:D013031/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis +is_a: MONDO:0005135 {source="DOID:10080/inferred", source="EFO:0007488", source="MESH:D013031/inferred", source="MONDO:Redundant", source="NCIT:C35030", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:46580 ! Spirometra @@ -102335,6 +103412,7 @@ intersection_of: realized_in_response_to_stimulus NCBITaxon:46580 ! Spirometra id: MONDO:0005964 name: sphenoid sinusitis def: "An acute or chronic inflammatory process affecting the mucous membrane of the sphenoid sinus." [NCIT:P378] +synonym: "sinusitis of sphenoid bone" EXACT [MONDO:design_pattern] synonym: "sphenoid bone sinusitis" EXACT [MONDO:patterns/location] synonym: "sphenoidal sinusitis" EXACT [DOID:10794, NCIT:C35031] xref: DOID:10794 {source="EFO:0007489", source="MONDO:equivalentTo"} @@ -102414,7 +103492,7 @@ xref: SCTID:94071006 {source="DOID:672"} xref: UMLS:C0037999 {source="DOID:672"} xref: UMLS:C0153470 {source="NCIT:C3539", source="DOID:672"} is_a: MONDO:0000612 {source="DOID:672", source="MONDO:Entailed"} ! lymphatic system cancer -is_a: MONDO:0002332 {source="DOID:672", source="MESH:D013160", source="MONDO:Entailed"} ! splenic disease +is_a: MONDO:0002332 {source="DOID:672", source="MESH:D013160", source="MONDO:Entailed", source="NCIT:C3539/inferred", source="linkedlifedata/inferred"} ! splenic disease is_a: MONDO:0002516 {source="ICD10:C26.1/inferred", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05"} ! digestive system cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002106 ! spleen @@ -102430,7 +103508,8 @@ xref: ICD9:017.7 {source="DOID:9305"} xref: MESH:D014400 {source="MONDO:ontobio", source="EFO:0007492", source="DOID:9305", source="MONDO:equivalentTo"} xref: SCTID:28399005 {source="DOID:9305", source="MONDO:equivalentTo"} xref: UMLS:C0041331 {source="DOID:9305", source="MONDO:equivalentTo"} -is_a: MONDO:0000369 {source="DOID:9305"} ! abdominal tuberculosis +intersection_of: MONDO:0018076 ! tuberculosis +intersection_of: disease_has_location UBERON:0002106 ! spleen [Term] id: MONDO:0005968 @@ -102459,8 +103538,10 @@ xref: SCTID:187488001 {source="DOID:14484"} xref: SCTID:266218008 {source="DOID:14484"} xref: SCTID:42094007 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:14484", source="MONDO:equivalentTo"} xref: UMLS:C0038034 {source="ORDO:826/e", source="DOID:14484", source="Orphanet:826", source="MONDO:equivalentTo"} -is_a: MONDO:0000308 {source="DOID:14484"} ! primary systemic mycosis +is_a: MONDO:0002041 {source="DOID:14484/inferred", source="ICD10:B42", source="MESH:D013174/inferred", source="linkedlifedata/inferred"} ! fungal infectious disease is_a: MONDO:0015578 {source="Orphanet:826"} ! rare mycosis +relationship: excluded_subClassOf MONDO:0000308 {source="DOID:14484"} ! primary systemic mycosis +relationship: excluded_subClassOf MONDO:0002040 {source="MESH:D013174"} ! dermatomycosis relationship: realized_in_response_to_stimulus NCBITaxon:29908 ! Sporothrix schenckii property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7692/sporotrichosis xsd:anyURI {source="GARD:0007692"} @@ -102482,10 +103563,12 @@ xref: SCTID:10429004 {source="DOID:10845"} xref: SCTID:417192005 {source="DOID:10845"} xref: SCTID:417607009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10845", source="MONDO:equivalentTo"} xref: UMLS:C0014060 {source="DOID:10845", source="Orphanet:83484", source="MONDO:equivalentTo", source="ORDO:83484/e"} -is_a: MONDO:0005763 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-03-06", source="linkedlifedata"} ! Flaviviridae infectious disease +is_a: MONDO:0005763 {source="MESH:D004674/inferred", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-03-06", source="linkedlifedata", source="linkedlifedata/inferred"} ! Flaviviridae infectious disease is_a: MONDO:0006009 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-21", source="Orphanet:83484", source="linkedlifedata"} ! viral encephalitis is_a: MONDO:0015659 {source="Orphanet:83484"} ! infectious disease with epilepsy -is_a: MONDO:0020067 {source="MESH:D004674/inferred", source="MONDO:Redundant", source="Orphanet:83484", source="linkedlifedata"} ! infectious encephalitis +is_a: MONDO:0020067 {source="MESH:D004674/inferred", source="MONDO:Redundant", source="Orphanet:83484", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious encephalitis +intersection_of: MONDO:0020067 ! infectious encephalitis +intersection_of: realized_in_response_to_stimulus NCBITaxon:11080 ! St. Louis encephalitis virus relationship: disease_has_feature HP:0001259 ! Coma relationship: disease_has_feature HP:0001289 ! Confusion relationship: realized_in_response_to_stimulus NCBITaxon:11080 {source="Wikidata"} ! St. Louis encephalitis virus @@ -102503,7 +103586,7 @@ xref: ICD9:482.40 {source="i2s", source="MONDO:equivalentTo"} xref: ICD9:482.49 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D011023 {source="EFO:0007496", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:22754005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} -is_a: MONDO:0005249 {source="EFO:0007496", source="MESH:D011023/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! pneumonia +is_a: MONDO:0005249 {source="EFO:0007496", source="MESH:D011023/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumonia intersection_of: MONDO:0005249 ! pneumonia intersection_of: realized_in_response_to_stimulus NCBITaxon:1279 ! Staphylococcus @@ -102524,8 +103607,8 @@ xref: NCIT:C35037 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:96", so xref: SCTID:84622004 {source="MONDO:kboom-pr-1.00/0.81/10.93", source="DOID:96", source="MONDO:equivalentTo"} xref: UMLS:C0038159 {source="DOID:96", source="NCIT:C35037", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:96"} ! primary bacterial infectious disease -is_a: MONDO:0005113 {source="EFO:0007497", source="MESH:D013202/inferred", source="MONDO:Redundant", source="NCIT:C35037/inferred", source="linkedlifedata"} ! bacterial infectious disease -is_a: MONDO:0024313 {source="NCIT:C35037"} ! staphylococcal infection +is_a: MONDO:0005113 {source="DOID:96/inferred", source="EFO:0007497", source="MESH:D013202/inferred", source="MONDO:Redundant", source="NCIT:C35037/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0024313 {source="MESH:D013202", source="NCIT:C35037"} ! staphylococcal infection relationship: disease_has_feature HP:0001324 ! Muscle weakness [Term] @@ -102546,10 +103629,10 @@ xref: ICD9:482.39 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D011018 {source="EFO:0007499", source="MONDO:equivalentTo"} xref: SCTID:233607000 {source="MONDO:equivalentTo"} xref: UMLS:C0155862 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004652 {source="DOID:0040084", source="linkedlife"} ! bacterial pneumonia -is_a: MONDO:0005114 {source="linkedlife"} ! pneumococcal infection -is_a: MONDO:0005249 {source="EFO:0007499", source="MONDO:Redundant", source="linkedlifedata"} ! pneumonia -is_a: MONDO:0021680 {source="linkedlife"} ! streptococcal infection +is_a: MONDO:0004652 {source="DOID:0040084", source="MESH:D011018", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial pneumonia +is_a: MONDO:0005114 {source="MESH:D011018", source="linkedlifedata"} ! pneumococcal infection +is_a: MONDO:0005249 {source="EFO:0007499", source="MESH:D011018/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumonia +is_a: MONDO:0021680 {source="MESH:D011018/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! streptococcal infection intersection_of: MONDO:0005249 ! pneumonia intersection_of: realized_in_response_to_stimulus NCBITaxon:1313 ! Streptococcus pneumoniae @@ -102593,8 +103676,8 @@ xref: SCTID:187537002 {source="DOID:10955"} xref: UMLS:C0038463 {source="DOID:10955", source="Orphanet:76", source="NCIT:C128398", source="MONDO:equivalentTo", source="ORDO:76/e"} xref: UMLS:C0085810 {source="Orphanet:76", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} xref: UMLS:C0348996 {source="MEDGEN:kboom-pr95-c96", source="MONDO:equivalentTo"} -is_a: MONDO:0004664 {source="DOID:10955", source="MESH:D013322/inferred", source="linkedlifedata"} ! helminthiasis -is_a: MONDO:0005135 {source="EFO:0007501", source="MESH:D013322/inferred", source="MONDO:Redundant", source="NCIT:C128398", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0004664 {source="DOID:10955", source="MESH:D013322/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis +is_a: MONDO:0005135 {source="DOID:10955/inferred", source="EFO:0007501", source="MESH:D013322/inferred", source="MONDO:Redundant", source="NCIT:C128398", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection is_a: MONDO:0005943 {source="MESH:D013322"} ! Rhabditida infectious disease is_a: MONDO:0015577 {source="Orphanet:76"} ! rare parasitic disease relationship: realized_in_response_to_stimulus NCBITaxon:6248 {source="Wikidata"} ! Strongyloides stercoralis @@ -102623,7 +103706,7 @@ xref: SCTID:267758003 {source="DOID:11506"} xref: SCTID:38394007 {source="DOID:11506", source="MONDO:superClassOf"} xref: SCTID:39288006 {source="MONDO:kboom-pr-0.95/0.74/1.99", source="DOID:11506", source="MONDO:equivalentTo"} xref: UMLS:C0029888 {source="DOID:11506", source="MONDO:equivalentTo"} -is_a: MONDO:0005441 {source="DOID:11506", source="EFO:0007503", source="MESH:D010035", source="linkedlifedata"} ! otitis media (disease) +is_a: MONDO:0005441 {source="DOID:11506", source="EFO:0007503", source="MESH:D010035", source="linkedlifedata", source="linkedlifedata/inferred"} ! otitis media (disease) [Term] id: MONDO:0005976 @@ -102645,11 +103728,12 @@ xref: SCTID:76272004 {source="MONDO:kboom-pr-0.91/0.68/1.38", source="EFO:000750 xref: UMLS:C0007939 {source="DOID:4166"} xref: UMLS:C0039128 {source="NCIT:C35055"} is_a: MONDO:0000314 {source="DOID:4166"} ! primary bacterial infectious disease -is_a: MONDO:0005113 {source="EFO:0007504", source="MESH:D013587/inferred", source="MONDO:Redundant", source="NCIT:C35055/inferred", source="linkedlifedata"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="DOID:4166/inferred", source="EFO:0007504", source="MESH:D013587/inferred", source="MONDO:Redundant", source="NCIT:C35055/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0005323 {source="MESH:D013587"} ! bacterial sexually transmitted disease -is_a: MONDO:0007000 {source="NCIT:C35055"} ! Treponema infectious disease +is_a: MONDO:0007000 {source="MESH:D013587", source="NCIT:C35055"} ! Treponema infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:160 ! Treponema pallidum +relationship: has_modifier MONDO:0045036 ! primary infectious relationship: realized_in_response_to_stimulus NCBITaxon:160 {source="Wikidata"} ! Treponema pallidum [Term] @@ -102676,9 +103760,9 @@ xref: SCTID:315826004 {source="DOID:10027"} xref: SCTID:316841006 {source="DOID:10027", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:51928006 {source="DOID:10027"} xref: UMLS:C0039223 {source="DOID:10027", source="NCIT:C35057", source="MONDO:equivalentTo"} -is_a: MONDO:0004944 {source="DOID:10027"} ! neurosyphilis -is_a: MONDO:0005071 {source="EFO:0007505", source="MESH:D013606/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! nervous system disorder -is_a: MONDO:0020010 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata"} ! infectious disease of the nervous system +is_a: MONDO:0004944 {source="DOID:10027", source="NCIT:C35057", source="linkedlifedata/inferred"} ! neurosyphilis +is_a: MONDO:0005071 {source="EFO:0007505", source="MESH:D013606/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! nervous system disorder +is_a: MONDO:0020010 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease of the nervous system relationship: disease_has_feature HP:0000802 ! Impotence relationship: disease_has_feature HP:0002066 ! Gait ataxia relationship: disease_has_feature HP:0003401 ! Paresthesia @@ -102750,7 +103834,7 @@ xref: GARD:0007771 {source="MONDO:equivalentTo"} xref: MESH:D013985 {source="EFO:0007509", source="MONDO:ontobio", source="DOID:11285", source="MONDO:equivalentTo"} xref: SCTID:74225001 {source="DOID:11285", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.90/26.89"} xref: UMLS:C0040197 {source="DOID:11285", source="MONDO:equivalentTo"} -is_a: MONDO:0005071 {source="EFO:0007509", source="MONDO:Redundant", source="linkedlifedata"} ! nervous system disorder +is_a: MONDO:0005071 {source="EFO:0007509", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! nervous system disorder is_a: MONDO:0005980 {source="DOID:11285"} ! tick infestation intersection_of: MONDO:0005980 ! tick infestation intersection_of: disease_has_feature HP:0003470 ! Paralysis @@ -102797,6 +103881,7 @@ name: tinea pedis def: "Dermatological pruritic lesion in the feet, caused by Trichophyton rubrum, T. mentagrophytes, or Epidermophyton floccosum." [MESH:D014008] synonym: "athlete's foot" EXACT [DOID:12403, MTHICD9_2006:110.4] synonym: "dermatophytosis of foot" EXACT [DOID:12403, ICD9CM_2006:110.4] +synonym: "dermatophytosis of pes" EXACT [MONDO:design_pattern] synonym: "pes dermatophytosis" EXACT [MONDO:patterns/location] synonym: "ringworm of foot" RELATED [DOID:12403] xref: COHD:133141 {source="MONDO:equivalentTo"} @@ -102811,7 +103896,7 @@ xref: SCTID:271427009 {source="DOID:12403"} xref: SCTID:6020002 {source="DOID:12403", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0040259 {source="DOID:12403", source="MONDO:equivalentTo"} is_a: MONDO:0004678 {source="DOID:12403", source="ICD10:B35.3", source="MONDO:Entailed", source="linkedlifedata"} ! dermatophytosis -is_a: MONDO:0005093 {source="EFO:0007512", source="MESH:D014008/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! skin disease +is_a: MONDO:0005093 {source="EFO:0007512", source="MESH:D014008/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease intersection_of: MONDO:0004678 ! dermatophytosis intersection_of: disease_has_location UBERON:0002387 ! pes relationship: realized_in_response_to_stimulus NCBITaxon:34390 ! Epidermophyton @@ -102826,7 +103911,7 @@ xref: EFO:0007513 {source="MONDO:equivalentTo"} xref: GARD:0007776 {source="MONDO:equivalentTo"} xref: MESH:D014036 {source="MONDO:equivalentTo", source="EFO:0007513"} xref: UMLS:C0040361 {source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="EFO:0007513"} ! viral infectious disease +is_a: MONDO:0005108 {source="EFO:0007513", source="MESH:D014036/inferred"} ! viral infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:11018 ! Togaviridae @@ -102838,7 +103923,7 @@ xref: DOID:4088 {source="MONDO:obsolete", source="EFO:0007514"} xref: EFO:0007514 {source="MONDO:equivalentTo"} xref: MESH:D018176 {source="EFO:0007514", source="MONDO:equivalentTo"} xref: UMLS:C0206607 {source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="EFO:0007514"} ! viral infectious disease +is_a: MONDO:0005108 {source="EFO:0007514", source="MESH:D018176/inferred"} ! viral infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:11155 ! Torovirus @@ -102877,8 +103962,8 @@ xref: SCTID:406619001 {source="MONDO:kboom-pr-1.00/0.81/10.49", source="MONDO:eq xref: SCTID:87121004 {source="DOID:9790"} xref: UMLS:C0023049 {source="DOID:9790", source="NCIT:C34758"} xref: UMLS:C0040553 {source="ORDO:3343/e", source="MONDO:equivalentTo", source="Orphanet:3343"} -is_a: MONDO:0004664 {source="DOID:9790", source="MESH:D014120/inferred", source="linkedlifedata"} ! helminthiasis -is_a: MONDO:0005135 {source="EFO:0007516", source="MESH:D014120/inferred", source="MONDO:Redundant", source="NCIT:C34758", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0004664 {source="DOID:9790", source="MESH:D014120/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis +is_a: MONDO:0005135 {source="DOID:9790/inferred", source="EFO:0007516", source="MESH:D014120/inferred", source="MONDO:Redundant", source="NCIT:C34758", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection is_a: MONDO:0015577 {source="Orphanet:3343"} ! rare parasitic disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:6264 ! Toxocara @@ -102911,8 +103996,8 @@ xref: SCTID:266225001 {source="DOID:9965"} xref: SCTID:276203008 {source="DOID:9965"} xref: SCTID:9399000 {source="DOID:9965"} xref: UMLS:C0040558 {source="NCIT:C3418", source="DOID:9965", source="MONDO:equivalentTo"} -is_a: MONDO:0005135 {source="EFO:0007517", source="MESH:D014123/inferred", source="MONDO:Redundant", source="NCIT:C3418", source="linkedlife/inferred"} ! parasitic infection -is_a: MONDO:0005707 {source="DOID:9965", source="MESH:D014123", source="linkedlifedata"} ! coccidiosis +is_a: MONDO:0005135 {source="DOID:9965/inferred", source="EFO:0007517", source="MESH:D014123/inferred", source="MONDO:Redundant", source="NCIT:C3418", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection +is_a: MONDO:0005707 {source="DOID:9965", source="MESH:D014123", source="linkedlifedata", source="linkedlifedata/inferred"} ! coccidiosis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:5811 ! Toxoplasma gondii relationship: disease_has_feature HP:0001433 ! Hepatosplenomegaly @@ -102996,7 +104081,7 @@ xref: SCTID:709018004 {source="DOID:9784", source="MONDO:relatedTo"} xref: SCTID:88264003 {source="DOID:9784", source="MONDO:relatedTo"} xref: UMLS:C0040896 {source="NCIT:C85199", source="DOID:9784"} is_a: MONDO:0004664 {source="DOID:9784"} ! helminthiasis -is_a: MONDO:0005135 {source="EFO:0007520", source="MONDO:Redundant", source="NCIT:C85199"} ! parasitic infection +is_a: MONDO:0005135 {source="DOID:9784/inferred", source="EFO:0007520", source="MONDO:Redundant", source="NCIT:C85199"} ! parasitic infection intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:6333 ! Trichinella relationship: disease_has_feature HP:0001880 {source="Wikidata"} ! Eosinophilia @@ -103023,8 +104108,8 @@ xref: MESH:D014247 {source="EFO:0007521", source="MONDO:ontobio", source="MONDO: xref: NCIT:C35083 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo", source="DOID:0050269"} xref: SCTID:35089004 {source="MONDO:equivalentTo"} xref: UMLS:C0040923 {source="NCIT:C35083"} -is_a: MONDO:0002154 {source="DOID:0050269", source="EFO:0007521", source="ICD10:A59.0", source="MESH:D014247", source="NCIT:C35083", source="linkedlife"} ! trichomoniasis -is_a: MONDO:0021681 {source="ICD10:A59.0/inferred", source="linkedlife"} ! sexually transmitted disease +is_a: MONDO:0002154 {source="DOID:0050269", source="EFO:0007521", source="ICD10:A59.0", source="MESH:D014247", source="NCIT:C35083", source="linkedlifedata"} ! trichomoniasis +is_a: MONDO:0021681 {source="ICD10:A59.0/inferred", source="linkedlifedata"} ! sexually transmitted disease intersection_of: MONDO:0021145 ! disease of genitourinary system intersection_of: realized_in_response_to_stimulus NCBITaxon:5722 ! Trichomonas vaginalis relationship: disease_has_feature MONDO:0002770 ! vaginal discharge @@ -103082,8 +104167,8 @@ xref: SCTID:154413002 {source="DOID:1252"} xref: SCTID:3752003 {source="DOID:1252", source="MONDO:kboom-pr-1.00/0.80/9.36", source="MONDO:equivalentTo"} xref: SCTID:60570001 {source="DOID:1252"} xref: UMLS:C0040954 {source="DOID:1252", source="NCIT:C128399", source="MONDO:equivalentTo"} -is_a: MONDO:0004664 {source="DOID:1252", source="ICD10:B79", source="MESH:D014257/inferred", source="linkedlifedata"} ! helminthiasis -is_a: MONDO:0005135 {source="EFO:0007524", source="MESH:D014257/inferred", source="MONDO:Redundant", source="NCIT:C128399", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0004664 {source="DOID:1252", source="ICD10:B79", source="MESH:D014257/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis +is_a: MONDO:0005135 {source="DOID:1252/inferred", source="EFO:0007524", source="MESH:D014257/inferred", source="MONDO:Redundant", source="NCIT:C128399", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:36087 ! Trichuris trichiura relationship: disease_has_feature HP:0001510 ! Growth delay @@ -103140,7 +104225,7 @@ xref: NCIT:C34575 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="DOID:14305", xref: SCTID:14527007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14305", source="MONDO:equivalentTo"} xref: SCTID:186184002 {source="DOID:14305"} xref: UMLS:C0014014 {source="NCIT:C34575", source="DOID:14305", source="MONDO:equivalentTo"} -is_a: MONDO:0005242 {source="EFO:0007528", source="MESH:D004654/inferred", source="MONDO:Entailed", source="NCIT:C34575", source="linkedlifedata"} ! empyema +is_a: MONDO:0005242 {source="EFO:0007528", source="MESH:D004654/inferred", source="MONDO:Entailed", source="NCIT:C34575", source="linkedlifedata", source="linkedlifedata/inferred"} ! empyema is_a: MONDO:0005922 {source="MESH:D004654", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-20"} ! pleural tuberculosis is_a: MONDO:0018076 {source="MESH:D004654/inferred", source="MONDO:Redundant", source="NCIT:C34575", source="linkedlifedata"} ! tuberculosis is_a: MONDO:0018667 {source="DOID:14305"} ! pleural empyema (disease) @@ -103198,9 +104283,9 @@ xref: SCTID:53991003 {source="DOID:1394"} xref: SCTID:60979006 {source="DOID:1394"} xref: UMLS:C0276926 {source="DOID:1394", source="MONDO:equivalentTo"} xref: UMLS:C1704430 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005247 {source="linkedlife"} ! urinary tract infection (disease) +is_a: MONDO:0005247 {source="linkedlifedata"} ! urinary tract infection (disease) is_a: MONDO:0006026 {source="DOID:1394", source="MONDO:Entailed"} ! urinary bladder disease -is_a: MONDO:0015254 {source="DOID:1394", source="MESH:D012553", source="MONDO:Entailed", source="NCIT:C39294", source="linkedlife"} ! schistosomiasis +is_a: MONDO:0015254 {source="DOID:1394", source="MESH:D012553", source="MONDO:Entailed", source="NCIT:C39294", source="linkedlifedata"} ! schistosomiasis intersection_of: MONDO:0015254 ! schistosomiasis intersection_of: disease_has_location UBERON:0001255 ! urinary bladder @@ -103258,8 +104343,8 @@ xref: SCTID:371972005 {source="DOID:9460", source="MONDO:equivalentTo"} xref: SCTID:93718007 {source="DOID:9460"} xref: UMLS:C0153574 {source="DOID:9460"} xref: UMLS:C1883486 {source="NCIT:C61574"} -is_a: MONDO:0002715 {source="DOID:9460", source="MONDO:Entailed", source="MONDOLEX:0006003", source="NCIT:C61574/inferred"} ! uterine cancer -is_a: MONDO:0021254 {source="MONDO:Entailed", source="MONDOLEX:0006003", source="NCIT:C61574/inferred", source="OWLReasoner:Elk-2018-01-09"} ! corpus uteri neoplasm +is_a: MONDO:0002715 {source="DOID:9460", source="MONDO:Entailed", source="MONDOLEX:0006003", source="NCIT:C61574/inferred", source="linkedlifedata"} ! uterine cancer +is_a: MONDO:0021254 {source="MONDO:Entailed", source="MONDOLEX:0006003", source="NCIT:C61574/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! corpus uteri neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0009853 ! body of uterus @@ -103277,7 +104362,7 @@ xref: SCTID:155537009 {source="DOID:4730"} xref: SCTID:266386004 {source="DOID:4730"} xref: SCTID:8229003 {source="DOID:4730", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0035460 {source="DOID:4730", source="MONDO:equivalentTo", source="NCIT:C34988"} -is_a: MONDO:0003014 {source="ICD10:J30.0", source="MESH:D012223", source="MONDO:Redundant", source="NCIT:C34988", source="linkedlifedata"} ! rhinitis +is_a: MONDO:0003014 {source="DOID:4730", source="ICD10:J30.0", source="MESH:D012223", source="MONDO:Redundant", source="NCIT:C34988", source="linkedlifedata", source="linkedlifedata/inferred"} ! rhinitis is_a: MONDO:0011786 {source="EFO:0007533"} ! allergic rhinitis intersection_of: MONDO:0003014 ! rhinitis intersection_of: disease_has_basis_in_disruption_of GO:0019229 ! regulation of vasoconstriction @@ -103299,7 +104384,7 @@ xref: SCTID:417067005 {source="MONDO:kboom-pr-1.00/0.80/8.90", source="DOID:9584 xref: SCTID:417702007 {source="DOID:9584"} xref: SCTID:89990001 {source="DOID:9584"} xref: UMLS:C0014078 {source="NCIT:C35121", source="DOID:9584", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="DOID:9584", source="MESH:D004685/inferred", source="MONDO:Redundant", source="NCIT:C35121/inferred", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:9584", source="MESH:D004685/inferred", source="MONDO:Redundant", source="NCIT:C35121/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease is_a: MONDO:0005156 {source="EFO:0007534", source="MESH:D004685/inferred"} ! encephalomyelitis is_a: MONDO:0018087 {source="NCIT:C35121"} ! viral hemorrhagic fever is_a: MONDO:0024619 {source="EFO:0007534/inferred", source="MESH:D004685/inferred", source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-21"} ! central nervous system infectious disorder @@ -103366,7 +104451,7 @@ xref: SCTID:197811007 {source="DOID:9620", source="MONDO:equivalentTo", source=" xref: SCTID:251994004 {source="DOID:9620"} xref: SCTID:26836002 {source="DOID:9620"} xref: UMLS:C0042580 {source="MEDGEN:kboom-pr98-c99", source="DOID:9620", source="MONDO:equivalentTo"} -is_a: MONDO:0001926 {source="DOID:9620"} ! ureteral disease +is_a: MONDO:0001926 {source="DOID:9620", source="linkedlifedata"} ! ureteral disease is_a: MONDO:0006026 {source="EFO:0007536", source="MESH:D014718", source="linkedlifedata"} ! urinary bladder disease [Term] @@ -103391,7 +104476,7 @@ xref: SCTID:232293008 {source="DOID:12683"} xref: SCTID:34243007 {source="DOID:12683"} xref: SCTID:43680000 {source="DOID:12683"} xref: UMLS:C0751908 {source="DOID:12683", source="MONDO:equivalentTo"} -is_a: MONDO:0001563 {source="DOID:12683", source="MESH:D020338"} ! vestibulocochlear nerve disease +is_a: MONDO:0001563 {source="DOID:12683", source="MESH:D020338", source="linkedlifedata"} ! vestibulocochlear nerve disease intersection_of: MONDO:0002122 ! neuritis intersection_of: disease_has_inflammation_site UBERON:0003723 ! vestibular nerve @@ -103400,6 +104485,7 @@ id: MONDO:0006009 name: viral encephalitis def: "Encephalitis resulting from viral infection." [NCIT:C35302] comment: Editor note: we place the Orphanet class here as it is implicitly viral +synonym: "epidemic encephalitis" EXACT [DOID:646] synonym: "viral encephalitis" EXACT [NCIT:C35302] xref: COHD:372547 {source="MONDO:equivalentTo"} xref: DOID:646 {source="EFO:0007538", source="MONDO:equivalentTo"} @@ -103420,8 +104506,8 @@ xref: UMLS:C0014055 {source="DOID:646"} xref: UMLS:C0243010 {source="NCIT:C35302", source="MONDO:equivalentTo"} xref: UMLS:C0596773 {source="ORDO:98252/e", source="Orphanet:98252"} is_a: MONDO:0015576 {source="MONDO:Redundant", source="Orphanet:98252"} ! rare viral disease -is_a: MONDO:0019956 {source="DOID:646", source="MONDO:Redundant", source="NCIT:C35302/inferred", source="Orphanet:98252", source="linkedlifedata"} ! encephalitis -is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:98252", source="linkedlifedata"} ! infectious disease of the nervous system +is_a: MONDO:0019956 {source="DOID:646", source="MONDO:Redundant", source="NCIT:C35302/inferred", source="Orphanet:98252", source="linkedlifedata", source="linkedlifedata/inferred"} ! encephalitis +is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:98252", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease of the nervous system is_a: MONDO:0020067 {source="MONDO:Entailed", source="NCIT:C35302", source="linkedlifedata"} ! infectious encephalitis intersection_of: MONDO:0019956 ! encephalitis intersection_of: realized_in_response_to_stimulus NCBITaxon:10239 ! Viruses @@ -103463,8 +104549,8 @@ xref: SCTID:3738000 {source="MONDO:kboom-pr-0.93/0.84/0.24", source="MONDO:equiv xref: UMLS:C0019194 {source="MONDO:NonHumanEquivalent", source="DOID:1884"} xref: UMLS:C0019195 {source="MONDO:HumanSpecific", source="MONDO:superClassOf"} xref: UMLS:C0042721 {source="NCIT:C35124", source="MONDO:equivalentTo"} -is_a: MONDO:0002251 {source="MESH:D006525", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C35124"} ! hepatitis -is_a: MONDO:0005108 {source="EFO:0004196", source="MESH:D006525", source="linkedlife/inferred"} ! viral infectious disease +is_a: MONDO:0002251 {source="DOID:1884", source="MESH:D006525", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C35124"} ! hepatitis +is_a: MONDO:0005108 {source="EFO:0004196", source="MESH:D006525", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! viral infectious disease intersection_of: MONDO:0002251 ! hepatitis intersection_of: realized_in_response_to_stimulus NCBITaxon:10239 ! Viruses property_value: excluded_synonym "animal viral hepatitis" xsd:string {source="DOID:1884"} @@ -103486,8 +104572,8 @@ xref: SCTID:195880002 {source="DOID:10533"} xref: SCTID:195883000 {source="DOID:10533"} xref: SCTID:75570004 {source="DOID:10533", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0032310 {source="DOID:10533", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="MESH:D011024", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! viral infectious disease -is_a: MONDO:0005249 {source="EFO:0007541", source="MESH:D011024", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! pneumonia +is_a: MONDO:0005108 {source="MESH:D011024", source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease +is_a: MONDO:0005249 {source="DOID:10533", source="EFO:0007541", source="MESH:D011024", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumonia intersection_of: MONDO:0005249 ! pneumonia intersection_of: realized_in_response_to_stimulus NCBITaxon:10239 ! Viruses relationship: disease_has_feature HP:0002090 ! Pneumonia @@ -103531,8 +104617,8 @@ xref: SCTID:266155003 {source="DOID:2272"} xref: SCTID:72605008 {source="DOID:2272", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0006852 {source="NCIT:C2914"} xref: UMLS:C0700345 {source="DOID:2272", source="MONDO:equivalentTo"} -is_a: MONDO:0001433 {source="MESH:D002181/inferred", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-18"} ! vaginal disease -is_a: MONDO:0002026 {source="DOID:2272", source="ICD10:B37.3", source="MESH:D002181", source="MONDO:Redundant", source="NCIT:C2914", source="linkedlifedata"} ! candidiasis +is_a: MONDO:0001433 {source="MESH:D002181/inferred", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-18", source="linkedlifedata/inferred"} ! vaginal disease +is_a: MONDO:0002026 {source="DOID:2272", source="ICD10:B37.3", source="MESH:D002181", source="MONDO:Redundant", source="NCIT:C2914", source="linkedlifedata", source="linkedlifedata/inferred"} ! candidiasis is_a: MONDO:0005093 {source="DOID:2272", source="MONDO:Redundant"} ! skin disease intersection_of: MONDO:0002026 ! candidiasis intersection_of: disease_has_location UBERON:0000996 ! vagina @@ -103565,7 +104651,7 @@ xref: SCTID:36102002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equ xref: UMLS:C0043068 {source="DOID:9931", source="NCIT:C85225", source="Orphanet:100067", source="ORDO:100067/e", source="MONDO:equivalentTo"} xref: UMLS:C1403891 {source="Orphanet:100067"} is_a: MONDO:0002254 {source="MONDOLEX:0006015", source="NCIT:C85225"} ! syndromic disease -is_a: MONDO:0005495 {source="DOID:9931", source="EFO:0007544", source="MESH:D014884/inferred", source="MONDO:Redundant", source="linkedlife/inferred"} ! adrenal gland disease +is_a: MONDO:0005495 {source="DOID:9931", source="EFO:0007544", source="MESH:D014884/inferred", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! adrenal gland disease is_a: MONDO:0019801 {source="Orphanet:100067"} ! acute adrenal insufficiency relationship: disease_has_feature HP:0001287 ! Meningitis @@ -103588,6 +104674,7 @@ def: "A rheumatic syndrome of possibly allergic origin, usually affecting childr synonym: "Wissler syndrome" EXACT [DOID:3047] synonym: "Wissler's subsepsis allergica" EXACT [DOID:3047] synonym: "Wissler's syndrome" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Wissler-Fanconi syndrome" EXACT [DOID:3047] synonym: "Wissler-Fanconi syndrome (finding)" EXACT [DOID:3047, SCTID:68190001] xref: DOID:3047 {source="EFO:0007547", source="MONDO:equivalentTo"} xref: EFO:0007547 {source="MONDO:equivalentTo"} @@ -103628,7 +104715,7 @@ xref: SCTID:266213004 {source="DOID:10371"} xref: SCTID:70647001 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10371", source="MONDO:equivalentTo"} xref: UMLS:C0043388 {source="NCIT:C41353", source="DOID:10371", source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:10371"} ! primary bacterial infectious disease -is_a: MONDO:0005113 {source="EFO:0007548", source="MESH:D015001/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="DOID:10371/inferred", source="EFO:0007548", source="MESH:D015001/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:168 ! Treponema pallidum subsp. pertenue property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7913/yaws xsd:anyURI {source="GARD:0007913"} @@ -103660,8 +104747,8 @@ xref: SCTID:87343002 {source="EFO:1000013", source="MONDO:kboom-pr-1.00/0.80/9.3 xref: UMLS:C0002963 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C2931193 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} xref: Wikipedia:Prinzmetal's_angina {source="EFO:1000013"} -is_a: MONDO:0004995 {source="EFO:1000013", source="MESH:D000788/inferred", source="linkedlifedata"} ! cardiovascular disease -is_a: MONDO:0005356 {source="DOID:0111151", source="linkedlife"} ! coronary vasospasm +is_a: MONDO:0004995 {source="DOID:0111151/inferred", source="EFO:1000013", source="MESH:D000788/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! cardiovascular disease +is_a: MONDO:0005356 {source="DOID:0111151", source="linkedlifedata"} ! coronary vasospasm [Term] id: MONDO:0006022 @@ -103686,6 +104773,7 @@ relationship: excluded_subClassOf MONDO:0005570 {source="EFO:1000014"} ! hematol id: MONDO:0006025 name: autosomal recessive disease def: "Autosomal recessive form of disease." [MONDO:patterns/autosomal_recessive] +synonym: "autosomal recessive disease or disorder" EXACT [MONDO:design_pattern] synonym: "autosomal recessive hereditary disease" EXACT [] synonym: "autosomal recessive hereditary disorder" EXACT [] synonym: "autosomal recessive inherited disease" EXACT [] @@ -103697,7 +104785,7 @@ xref: EFO:1000017 {source="MONDO:equivalentTo"} xref: ICD9:758.5 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:85995004 {source="MONDO:equivalentTo"} xref: UMLS:C0265388 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0000429 {source="DOID:0050737", source="SCTID:85995004", source="linkedlifedata"} ! autosomal genetic disease +is_a: MONDO:0000429 {source="DOID:0050737", source="linkedlifedata"} ! autosomal genetic disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance @@ -103710,6 +104798,7 @@ synonym: "bladder disorder" EXACT [NCIT:C2900] synonym: "disease of urinary bladder" EXACT [MONDO:patterns/location_top] synonym: "disorder of urinary bladder" RELATED [MONDO:patterns/location_top] synonym: "urinary bladder disease" EXACT [DOID:365, MONDO:patterns/location] +synonym: "urinary bladder disease or disorder" EXACT [MONDO:design_pattern] synonym: "urinary bladder disorder" EXACT [NCIT:C2900] xref: COHD:201337 {source="MONDO:equivalentTo"} xref: DOID:365 {source="EFO:1000018", source="MONDO:equivalentTo"} @@ -103725,7 +104814,7 @@ xref: SCTID:197897007 {source="DOID:365"} xref: SCTID:266630005 {source="DOID:365"} xref: SCTID:42643001 {source="DOID:365", source="MONDO:equivalentTo"} xref: UMLS:C0005686 {source="NCIT:C2900", source="EFO:1000018", source="DOID:365", source="MONDO:equivalentTo"} -is_a: MONDO:0002118 {source="DOID:365", source="MESH:D001745", source="MONDO:Entailed"} ! urinary system disease +is_a: MONDO:0002118 {source="DOID:365", source="MESH:D001745", source="MONDO:Entailed", source="NCIT:C2900", source="linkedlifedata/inferred"} ! urinary system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001255 ! urinary bladder @@ -103809,6 +104898,7 @@ id: MONDO:0006031 name: chronic rhinosinusitis def: "Chronic form of sinusitis." [MONDO:patterns/chronic] synonym: "chronic sinusitis" EXACT [] +synonym: "sinusitis, chronic" EXACT [MONDO:design_pattern] xref: EFO:1000024 {source="MONDO:equivalentTo"} xref: ICD9:473.8 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:473.9 {source="i2s", source="MONDO:equivalentTo"} @@ -103816,7 +104906,7 @@ xref: NCIT:C35151 {source="MONDO:equivalentTo"} xref: PMID:25838086 {source="EFO:1000024"} xref: SCTID:40055000 {source="MONDO:kboom-pr-1.00/0.74/6.27", source="MONDO:equivalentTo"} xref: UMLS:C0149516 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005087 {source="EFO:1000024", source="linkedlifedata"} ! respiratory system disease +is_a: MONDO:0005087 {source="EFO:1000024", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system disease intersection_of: MONDO:0005961 ! sinusitis intersection_of: has_modifier PATO:0001863 ! chronic @@ -103844,7 +104934,7 @@ xref: SCTID:266629000 {source="DOID:1679"} xref: SCTID:38822007 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1000025", source="DOID:1679", source="MONDO:equivalentTo"} xref: UMLS:C0010692 {source="EFO:1000025", source="DOID:1679", source="NCIT:C26738", source="MONDO:equivalentTo"} is_a: MONDO:0006026 {source="DOID:1679", source="EFO:1000025", source="MESH:D003556", source="MONDO:Entailed", source="NCIT:C26738/inferred", source="linkedlifedata"} ! urinary bladder disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001255 ! urinary bladder @@ -103884,7 +104974,7 @@ xref: EFO:1000029 {source="MONDO:equivalentTo"} xref: NCIT:C5474 {source="DOID:5635", source="EFO:1000029", source="exact-label-match", source="MONDO:equivalentTo"} xref: ONCOTREE:STAS {source="MONDO:equivalentTo"} xref: UMLS:C1333761 {source="DOID:5635", source="EFO:1000029", source="MONDO:equivalentTo", source="NCIT:C5474"} -is_a: MONDO:0004950 {source="EFO:1000029", source="MONDO:Redundant", source="NCIT:C5474"} ! gastric carcinoma +is_a: MONDO:0004950 {source="DOID:5635/inferred", source="EFO:1000029", source="MONDO:Redundant", source="NCIT:C5474"} ! gastric carcinoma is_a: MONDO:0006074 {source="DOID:5635", source="MONDO:Entailed", source="MONDOLEX:0006034", source="NCIT:C5474"} ! adenosquamous carcinoma is_a: MONDO:0006230 {source="DOID:5635", source="MONDO:Entailed"} ! gastric squamous cell carcinoma intersection_of: MONDO:0006074 ! adenosquamous carcinoma @@ -103978,7 +105068,7 @@ xref: NCIT:C27110 {source="EFO:1000034", source="MONDO:equivalentTo"} xref: SCTID:235746007 {source="EFO:1000034", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0341332 {source="EFO:1000034", source="NCIT:C27110", source="MONDO:equivalentTo"} is_a: MONDO:0005265 {source="EFO:1000034", source="NCIT:C27110"} ! inflammatory bowel disease -is_a: MONDO:0005292 {source="MONDO:cjm", source="linkedlife"} ! colitis (disease) +is_a: MONDO:0005292 {source="MONDO:cjm", source="linkedlifedata"} ! colitis (disease) [Term] id: MONDO:0006039 @@ -103990,7 +105080,7 @@ xref: NCIT:C78359 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000035" xref: SCTID:39341005 {source="EFO:1000035", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0277524 {source="EFO:1000035", source="NCIT:C78359", source="MONDO:equivalentTo"} is_a: MONDO:0005292 {source="EFO:1000035", source="NCIT:C78359", source="linkedlifedata"} ! colitis (disease) -is_a: MONDO:0005550 {source="MONDO:cjm", source="linkedlifedata"} ! infectious disease +is_a: MONDO:0005550 {source="MONDO:cjm", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease intersection_of: MONDO:0005550 {source="EFO:0000784"} ! infectious disease intersection_of: disease_has_inflammation_site UBERON:0001155 {source="EFO:0000784"} ! colon @@ -104020,7 +105110,7 @@ xref: NCIT:C4038 {source="EFO:1000037", source="DesignPattern", source="exact-la xref: ONCOTREE:LUCA {source="MONDO:equivalentTo"} xref: SCTID:254627002 {source="DesignPattern", source="MONDO:kboom-pr-0.76/0.38/0.67", source="MONDO:equivalentTo"} xref: UMLS:C0280089 {source="NCIT:C4038", source="EFO:1000037", source="MONDO:equivalentTo"} -is_a: MONDO:0005070 {source="EFO:1000037", source="MONDO:Redundant", source="NCIT:C4038/inferred", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="EFO:1000037", source="MONDO:Redundant", source="NCIT:C4038/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) is_a: MONDO:0005369 {source="MONDO:Entailed", source="MONDOLEX:0006041", source="NCIT:C4038/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! carcinoid tumor (disease) is_a: MONDO:0005454 {source="MONDO:Entailed", source="NCIT:C4038", source="ONCOTREE:LUCA", source="linkedlifedata"} ! lung neuroendocrine neoplasm intersection_of: MONDO:0005369 ! carcinoid tumor (disease) @@ -104073,7 +105163,6 @@ is_a: MONDO:0006256 {source="NCIT:C5164"} ! invasive breast carcinoma id: MONDO:0006044 name: nephrosclerosis def: "Hardening of the kidney due to infiltration by fibrous connective tissue (fibrosis), usually caused by renovascular diseases or chronic hypertension. Nephrosclerosis leads to renal ischemia." [MESH:D009400] -comment: _:comment___:_:@___:_:createdBy__http://www.ebi.ac.uk/ontology/webulous#OPPL_pattern___:.__http://www.britannica.com/science/nephrosclerosis {source="EFO:1000041"} subset: gard_rare {source="GARD:0007179"} synonym: "renal sclerosis" EXACT [CSP2005:4003-0020, DOID:11664] xref: DOID:11664 {source="EFO:1000041", source="MONDO:equivalentTo"} @@ -104088,10 +105177,10 @@ xref: SCTID:197658002 {source="DOID:11664"} xref: SCTID:197662008 {source="DOID:11664"} xref: SCTID:32916005 {source="EFO:1000041", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo", source="DOID:11664"} xref: UMLS:C0027719 {source="EFO:1000041", source="MONDO:equivalentTo", source="DOID:11664"} -is_a: MONDO:0001105 {source="DOID:11664"} ! renal hypertension -is_a: MONDO:0002286 {source="linkedlife"} ! renal artery disease -is_a: MONDO:0005240 {source="MESH:D009400", source="linkedlife/inferred"} ! kidney disease -is_a: MONDO:0024236 {source="linkedlife"} ! degenerative disorder +is_a: MONDO:0002286 {source="linkedlifedata"} ! renal artery disease +is_a: MONDO:0005240 {source="DOID:11664/inferred", source="MESH:D009400", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! kidney disease +is_a: MONDO:0024236 {source="linkedlifedata"} ! degenerative disorder +relationship: excluded_subClassOf MONDO:0001105 {source="DOID:11664"} ! renal hypertension property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7179/nephrosclerosis xsd:anyURI {source="GARD:0007179"} [Term] @@ -104126,8 +105215,8 @@ xref: DOID:5746 {source="EFO:1000043", source="MONDO:equivalentTo"} xref: EFO:1000043 {source="MONDO:equivalentTo"} xref: NCIT:C7978 {source="EFO:1000043", source="DOID:5746", source="MONDO:equivalentTo"} xref: UMLS:C0279663 {source="EFO:1000043", source="DOID:5746", source="NCIT:C7978", source="MONDO:equivalentTo"} -is_a: MONDO:0002702 {source="MONDO:Redundant", source="NCIT:C7978"} ! ovarian cystadenocarcinoma -is_a: MONDO:0005211 {source="EFO:1000043", source="NCIT:C7978"} ! ovarian serous adenocarcinoma +is_a: MONDO:0002702 {source="DOID:5746", source="MONDO:Redundant", source="NCIT:C7978"} ! ovarian cystadenocarcinoma +is_a: MONDO:0005211 {source="DOID:5746", source="EFO:1000043", source="NCIT:C7978"} ! ovarian serous adenocarcinoma is_a: MONDO:0024621 {source="MONDOLEX:0006046", source="NCIT:C7978"} ! serous cystadenocarcinoma intersection_of: MONDO:0024621 ! serous cystadenocarcinoma intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -104148,7 +105237,7 @@ xref: NCIT:C8294 {source="EFO:1000044", source="exact-label-match", source="MOND xref: ONCOTREE:PAAD {source="MONDO:equivalentTo"} xref: SCTID:700423003 {source="MONDO:kboom-pr-0.90/0.79/0.09", source="EFO:1000044", source="MONDO:equivalentTo", source="DOID:4074"} xref: UMLS:C0281361 {source="NCIT:C8294", source="EFO:1000044", source="MONDO:equivalentTo", source="DOID:4074"} -is_a: MONDO:0004970 {source="DOID:4074", source="MONDO:Entailed", source="MONDOLEX:0006047", source="NCIT:C8294"} ! adenocarcinoma +is_a: MONDO:0004970 {source="DOID:4074", source="MONDO:Entailed", source="MONDOLEX:0006047", source="NCIT:C8294", source="linkedlifedata"} ! adenocarcinoma is_a: MONDO:0005192 {source="DOID:4074", source="EFO:1000044", source="NCIT:C8294"} ! exocrine pancreatic carcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0001264 ! pancreas @@ -104175,7 +105264,7 @@ xref: NCIT:C5650 {source="EFO:1000046", source="DOID:5588", source="exact-label- xref: SCTID:707411007 {source="MONDO:kboom-pr-0.77/0.38/0.75", source="MONDO:equivalentTo"} xref: UMLS:C1335325 {source="EFO:1000046", source="DOID:5588", source="MONDO:equivalentTo", source="NCIT:C5650"} is_a: MONDO:0002512 {source="DOID:5588", source="MONDO:Entailed", source="MONDOLEX:0006049", source="NCIT:C5650"} ! papillary adenocarcinoma -is_a: MONDO:0005061 {source="DOID:5588", source="EFO:1000046", source="MONDO:Entailed", source="MONDOLEX:0006049", source="NCIT:C5650"} ! lung adenocarcinoma +is_a: MONDO:0005061 {source="DOID:5588", source="EFO:1000046", source="MONDO:Entailed", source="MONDOLEX:0006049", source="NCIT:C5650", source="linkedlifedata/inferred"} ! lung adenocarcinoma intersection_of: MONDO:0002512 ! papillary adenocarcinoma intersection_of: disease_has_location UBERON:0002048 ! lung @@ -104230,13 +105319,15 @@ xref: SCTID:700272008 {source="DOID:2957"} xref: SCTID:81483001 {source="DOID:2957"} xref: UMLS:C0041327 {source="EFO:1000049", source="MONDO:equivalentTo", source="DOID:2957", source="NCIT:C26899"} is_a: MONDO:0015118 {source="Orphanet:3389"} ! rare pulmonary disease -is_a: MONDO:0018076 {source="DOID:2957", source="EFO:1000049", source="MESH:D014397", source="NCIT:C26899", source="linkedlifedata"} ! tuberculosis +is_a: MONDO:0018076 {source="DOID:2957", source="EFO:1000049", source="MESH:D014397", source="NCIT:C26899", source="linkedlifedata", source="linkedlifedata/inferred"} ! tuberculosis relationship: disease_has_feature HP:0002202 ! Pleural effusion [Term] id: MONDO:0006053 name: renal leiomyoma def: "A leiomyoma that involves the kidney." [MONDO:patterns/location] +synonym: "kidney leiomyoma" EXACT [MONDO:design_pattern] +synonym: "leiomyoma of kidney" EXACT [MONDO:design_pattern] xref: EFO:1000050 {source="MONDO:equivalentTo"} is_a: MONDO:0005070 {source="EFO:1000050"} ! neoplasm (disease) intersection_of: MONDO:0001572 ! leiomyoma @@ -104296,7 +105387,7 @@ xref: SCTID:253028001 {source="DOID:192"} xref: SCTID:71440001 {source="EFO:1000052", source="DOID:192"} xref: UMLS:C0206724 {source="EFO:1000052", source="DOID:192", source="NCIT:C3794", source="MONDO:equivalentTo"} xref: UMLS:C1515289 {source="DOID:192", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005070 {source="EFO:0007483/inferred", source="EFO:1000052/inferred", source="MONDO:Redundant", source="NCIT:C3794/inferred"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="DOID:192/inferred", source="EFO:0007483/inferred", source="EFO:1000052/inferred", source="MONDO:Redundant", source="NCIT:C3794/inferred"} ! neoplasm (disease) is_a: MONDO:0006054 {source="EFO:1000052", source="MONDO:Entailed", source="NCIT:C3794/inferred", source="OWLReasoner:Elk-2018-01-10"} ! reproductive system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0005295 ! sex cord @@ -104476,6 +105567,10 @@ xref: NCIT:C7462 {source="EFO:1000066", source="MONDO:kboom-pr-0.94/0.86/0.18", xref: UMLS:C1306214 {source="MONDO:directSiblingOf", source="NCIT:C7462"} is_a: MONDO:0004972 {source="EFO:1000066", source="MONDO:Redundant", source="NCIT:C7462/inferred"} ! adenoma is_a: MONDO:0006373 {source="MONDOLEX:0006068", source="NCIT:C7462"} ! pituitary gland adenoma +is_a: MONDO:0045058 {source="NCIT:C7462"} ! ACTH-producing pituitary gland neoplasm +intersection_of: MONDO:0004972 ! adenoma +intersection_of: disease_has_location UBERON:0000007 ! pituitary gland +intersection_of: realized_in GO:0051458 ! corticotropin secretion [Term] id: MONDO:0006069 @@ -104532,9 +105627,12 @@ xref: DOID:6276 {source="MONDO:equivalentTo"} xref: EFO:1000067 {source="MONDO:equivalentTo"} xref: NCIT:C5964 {source="EFO:1000067", source="DOID:6276", source="MONDO:kboom-pr-0.94/0.86/0.21", source="MONDO:equivalentTo"} xref: UMLS:C1334556 {source="NCIT:C5964", source="DOID:6276", source="MONDO:equivalentTo"} -is_a: MONDO:0003604 {source="DOID:6276"} ! functioning pituitary gland neoplasm is_a: MONDO:0004970 {source="EFO:1000067", source="MONDO:0006069/inferred", source="MONDOLEX:0006069/inferred", source="NCIT:C5964/inferred"} ! adenocarcinoma +intersection_of: MONDO:0004992 ! cancer +intersection_of: disease_has_location UBERON:0000007 ! pituitary gland +intersection_of: realized_in GO:0051458 ! corticotropin secretion relationship: disease_has_feature HP:0011043 ! Abnormality of circulating adrenocorticotropin level +relationship: excluded_subClassOf MONDO:0003604 {source="DOID:6276"} ! functioning pituitary gland neoplasm [Term] id: MONDO:0006070 @@ -104603,7 +105701,7 @@ xref: NCIT:C3727 {source="DOID:4830", source="exact-label-match", source="MONDO: xref: SCTID:403902008 {source="MONDO:kboom-pr-1.00/0.75/6.44", source="DOID:4830", source="MONDO:equivalentTo"} xref: SCTID:59367005 {source="DOID:4830"} xref: UMLS:C0206623 {source="DOID:4830", source="NCIT:C3727", source="MONDO:equivalentTo"} -is_a: MONDO:0004993 {source="EFO:1000073", source="MESH:D018196", source="MONDO:0006074/inferred", source="MONDO:Redundant", source="MONDOLEX:0006074/inferred", source="NCIT:C3727"} ! carcinoma +is_a: MONDO:0004993 {source="DOID:4830/inferred", source="EFO:1000073", source="MESH:D018196", source="MONDO:0006074/inferred", source="MONDO:Redundant", source="MONDOLEX:0006074/inferred", source="NCIT:C3727"} ! carcinoma is_a: MONDO:0005096 {source="DOID:4830", source="MONDOLEX:0006074", source="linkedlifedata"} ! squamous cell carcinoma [Term] @@ -104619,8 +105717,8 @@ xref: MESH:D018209 {source="MONDO:equivalentTo"} xref: NCIT:C3736 {source="EFO:1000074", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:719049003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.73"} xref: UMLS:C0206635 {source="NCIT:C3736", source="MONDO:equivalentTo"} -is_a: MONDO:0000627 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! benign endocrine neoplasm -is_a: MONDO:0005495 {source="MONDO:Redundant", source="NCIT:C3736", source="linkedlife/inferred"} ! adrenal gland disease +is_a: MONDO:0000627 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign endocrine neoplasm +is_a: MONDO:0005495 {source="MONDO:Redundant", source="NCIT:C3736", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! adrenal gland disease is_a: MONDO:0021511 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of adrenal gland intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_arises_from_structure CL:0000136 ! fat cell @@ -104723,7 +105821,7 @@ xref: EFO:1000080 {source="MONDO:equivalentTo"} xref: NCIT:C4639 {source="DOID:14145", source="DesignPattern", source="EFO:1000080", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:276821000 {source="MONDO:kboom-pr-1.00/0.91/29.45", source="DOID:14145", source="DesignPattern", source="MONDO:equivalentTo"} xref: UMLS:C0349538 {source="NCIT:C4639", source="DOID:14145", source="MONDO:equivalentTo"} -is_a: MONDO:0001879 {source="MONDO:Entailed", source="NCIT:C4639"} ! anus cancer +is_a: MONDO:0001879 {source="DOID:14145", source="MONDO:Entailed", source="NCIT:C4639"} ! anus cancer intersection_of: MONDO:0005105 ! melanoma (disease) intersection_of: disease_has_location UBERON:0001245 ! anus @@ -104793,9 +105891,9 @@ xref: MESH:D009232 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C3254 {source="EFO:1000087", source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} xref: SCTID:404083008 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0027149 {source="MONDO:equivalentTo"} -is_a: MONDO:0005070 {source="EFO:1000087", source="MESH:D009232/inferred", source="MONDO:Redundant", source="NCIT:C3254/inferred", source="linkedlife", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="EFO:1000087", source="MESH:D009232/inferred", source="MONDO:Redundant", source="NCIT:C3254/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) is_a: MONDO:0021581 {source="MESH:D009232"} ! connective tissue neoplasm -is_a: MONDO:0044335 ! benign soft tissue neoplasm +is_a: MONDO:0044335 {source="NCIT:C3254/inferred"} ! benign soft tissue neoplasm [Term] id: MONDO:0006087 @@ -104815,7 +105913,7 @@ xref: ONCOTREE:APAD {source="MONDO:equivalentTo"} xref: SCTID:413445002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3608", source="MONDO:equivalentTo"} xref: UMLS:C0238003 {source="NCIT:C7718", source="DOID:3608", source="MONDO:equivalentTo"} is_a: MONDO:0003196 {source="DOID:3608", source="MONDO:Entailed", source="MONDOLEX:0006087", source="NCIT:C7718", source="linkedlifedata"} ! appendix carcinoma -is_a: MONDO:0004970 {source="EFO:1000088", source="MONDO:Redundant", source="NCIT:C7718"} ! adenocarcinoma +is_a: MONDO:0004970 {source="DOID:3608", source="EFO:1000088", source="MONDO:Redundant", source="NCIT:C7718", source="linkedlifedata/inferred"} ! adenocarcinoma intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix @@ -104882,7 +105980,7 @@ xref: ICDO:8240/1 {source="NCIT:C4138"} xref: NCIT:C4138 {source="MONDO:kboom-pr-0.93/0.85/0.20", source="EFO:1000092", source="MONDO:equivalentTo"} xref: SCTID:253002004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.62"} xref: UMLS:C0334298 {source="NCIT:C4138", source="MONDO:equivalentTo"} -is_a: MONDO:0005369 {source="EFO:1000092", source="MONDO:Redundant", source="NCIT:C4138/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! carcinoid tumor (disease) +is_a: MONDO:0005369 {source="EFO:1000092", source="MONDO:Redundant", source="NCIT:C4138/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! carcinoid tumor (disease) is_a: MONDO:0015066 {source="MONDO:Entailed", source="NCIT:C4138"} ! neuroendocrine tumor of the appendix, well differentiated, low or intermediate grade intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0001154 ! vermiform appendix @@ -104957,7 +106055,7 @@ xref: NCIT:C72074 {source="EFO:1000097", source="exact-label-match", source="MON xref: SCTID:445238008 {source="MONDO:equivalentTo"} xref: UMLS:C0391970 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C72074", source="MONDO:equivalentTo"} xref: UMLS:C1266032 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005369 {source="EFO:1000097", source="MONDOLEX:0006095", source="NCIT:C72074"} ! carcinoid tumor (disease) +is_a: MONDO:0005369 {source="EFO:1000097", source="MONDOLEX:0006095", source="NCIT:C72074", source="linkedlifedata"} ! carcinoid tumor (disease) [Term] id: MONDO:0006096 @@ -105091,7 +106189,7 @@ xref: NCIT:C3622 {source="EFO:1000110", source="exact-label-match", source="MOND xref: SCTID:92068002 {source="MONDO:equivalentTo"} xref: UMLS:C0154025 {source="NCIT:C3622", source="MONDO:equivalentTo"} is_a: MONDO:0020204 {source="EFO:1000110", source="MONDO:Entailed", source="NCIT:C3622"} ! conjunctival tumor -is_a: MONDO:0021454 {source="MONDO:Entailed", source="NCIT:C3622", source="OWLReasoner:Elk-2018-01-09"} ! benign neoplasm of eye +is_a: MONDO:0021454 {source="MONDO:Entailed", source="NCIT:C3622", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of eye intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001811 ! conjunctiva @@ -105141,7 +106239,7 @@ xref: NCIT:C3628 {source="EFO:1000122", source="exact-label-match", source="MOND xref: SCTID:92439006 {source="MONDO:kboom-pr-0.76/0.38/0.62", source="MONDO:equivalentTo"} xref: UMLS:C0154038 {source="NCIT:C3628", source="MONDO:equivalentTo"} is_a: MONDO:0000627 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! benign endocrine neoplasm -is_a: MONDO:0003240 {source="MONDO:Redundant", source="NCIT:C3628/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! thyroid gland disease +is_a: MONDO:0003240 {source="MONDO:Redundant", source="NCIT:C3628/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! thyroid gland disease is_a: MONDO:0015074 {source="MONDO:Entailed", source="NCIT:C3628", source="linkedlifedata"} ! thyroid tumor intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002046 ! thyroid gland @@ -105168,9 +106266,9 @@ xref: SCTID:189591008 {source="DOID:5381"} xref: SCTID:39471001 {source="DOID:5381"} xref: SCTID:424091006 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:5381", source="MONDO:equivalentTo"} xref: UMLS:C0008309 {source="NCIT:C2942", source="DOID:5381", source="MONDO:equivalentTo"} -is_a: MONDO:0002887 {source="DOID:5381", source="MONDO:Redundant", source="NCIT:C2942/inferred", source="linkedlifedata"} ! bile duct disease +is_a: MONDO:0002887 {source="DOID:5381", source="MONDO:Redundant", source="NCIT:C2942/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! bile duct disease is_a: MONDO:0004972 {source="DOID:5381", source="EFO:1000123", source="MESH:D002759", source="MONDO:Redundant", source="NCIT:C2942/inferred", source="linkedlifedata"} ! adenoma -is_a: MONDO:0005304 {source="DOID:5381", source="MONDO:Redundant", source="linkedlifedata"} ! biliary tract neoplasm (disease) +is_a: MONDO:0005304 {source="DOID:5381", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! biliary tract neoplasm (disease) is_a: MONDO:0006180 {source="NCIT:C2942"} ! digestive system adenoma is_a: MONDO:0021662 {source="MONDO:Entailed", source="NCIT:C2942", source="OWLReasoner:Elk-2018-01-20"} ! bile duct neoplasm intersection_of: MONDO:0004972 ! adenoma @@ -105282,7 +106380,7 @@ xref: NCIT:C9110 {source="EFO:1000131", source="exact-label-match", source="MOND xref: SCTID:413656006 {source="MONDO:equivalentTo"} xref: UMLS:C0005699 {source="NCIT:C9110", source="MONDO:equivalentTo"} is_a: HP:0005506 {source="MESH:D001752"} ! Chronic myelogenous leukemia -is_a: MONDO:0005059 {source="EFO:1000131", source="NCIT:C9110/inferred"} ! leukemia (disease) +is_a: MONDO:0005059 {source="EFO:1000131", source="MESH:D001752/inferred", source="NCIT:C9110/inferred", source="linkedlifedata/inferred"} ! leukemia (disease) is_a: MONDO:0005170 {source="EFO:1000131", source="NCIT:C9110/inferred"} ! myeloid neoplasm is_a: MONDO:0011996 {source="MONDOLEX:0006115", source="NCIT:C9110"} ! chronic myelogenous leukemia, BCR-ABL1 positive @@ -105290,7 +106388,7 @@ is_a: MONDO:0011996 {source="MONDOLEX:0006115", source="NCIT:C9110"} ! chronic m id: MONDO:0006116 name: breast carcinoma by gene expression profile def: "A header term that includes the following breast carcinoma subtypes determined by gene expression profiling: luminal A breast carcinoma, luminal B breast carcinoma, HER2 positive breast carcinoma, basal-like breast carcinoma, triple-negative breast carcinoma, and normal breast-like subtype of breast carcinoma." [NCIT:C53553] -synonym: "breast carcinoma by Gene expression profile" EXACT [NCIT:C53553] +synonym: "breast carcinoma by gene expression profile" EXACT [NCIT:C53553] xref: EFO:1000143 {source="MONDO:equivalentTo"} xref: NCIT:C53553 {source="EFO:1000143", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C3642344 {source="NCIT:C53553", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -105302,6 +106400,7 @@ name: breast diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that arises from the breast. It is the most common type of primary breast lymphoma." [NCIT:C40375] synonym: "breast diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C40375] synonym: "breast DLBCL" EXACT [NCIT:C40375] +synonym: "diffuse large B-cell lymphoma of breast" EXACT [MONDO:design_pattern] xref: EFO:1000144 {source="MONDO:equivalentTo"} xref: NCIT:C40375 {source="EFO:1000144", source="DesignPattern", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1511306 {source="NCIT:C40375", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -105333,7 +106432,7 @@ xref: NCIT:C3660 {source="EFO:1000145", source="DOID:10353", source="MONDO:equiv xref: SCTID:29070004 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:10353", source="MONDO:equivalentTo"} xref: UMLS:C0156318 {source="NCIT:C3660", source="MEDGEN:kboom-pr98-c99", source="DOID:10353", source="MONDO:equivalentTo"} is_a: MONDO:0003724 {source="DOID:10353", source="NCIT:C3660"} ! non-proliferative fibrocystic change of the breast -is_a: MONDO:0005070 {source="EFO:1000145", source="EFO:1000145/inferred", source="MONDO:Redundant"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="DOID:10353/inferred", source="EFO:1000145", source="EFO:1000145/inferred", source="MONDO:Redundant"} ! neoplasm (disease) relationship: disease_has_location UBERON:0001911 ! mammary gland [Term] @@ -105507,7 +106606,7 @@ xref: Orphanet:251931 {source="MONDO:equivalentTo"} xref: SCTID:128858006 {source="DOID:6458"} xref: SCTID:716592003 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C1370507 {source="NCIT:C6905", source="DOID:6458", source="ORDO:251931/e", source="MONDO:equivalentTo", source="Orphanet:251931"} -is_a: MONDO:0002913 {source="DOID:6458", source="NCIT:C6905/inferred", source="linkedlifedata"} ! cerebellar neoplasm +is_a: MONDO:0002913 {source="DOID:6458", source="NCIT:C6905/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebellar neoplasm is_a: MONDO:0016726 {source="Orphanet:251931"} ! neuronal tumor property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10642/cerebellar-liponeurocytoma xsd:anyURI {source="GARD:0010642"} @@ -105544,7 +106643,7 @@ xref: NCIT:C6346 {source="DOID:4867", source="MONDO:equivalentTo", source="EFO:1 xref: ONCOTREE:CACC {source="MONDO:equivalentTo"} xref: UMLS:C1332911 {source="DOID:4867", source="NCIT:C6346", source="MONDO:equivalentTo"} is_a: MONDO:0004971 {source="EFO:1000161", source="MONDO:0006133/inferred", source="MONDO:Redundant", source="MONDOLEX:0006133/inferred", source="NCIT:C6346"} ! adenoid cystic carcinoma -is_a: MONDO:0005131 {source="EFO:1000161", source="MONDO:Redundant", source="NCIT:C6346"} ! cervical carcinoma +is_a: MONDO:0005131 {source="DOID:4867", source="EFO:1000161", source="MONDO:Redundant", source="NCIT:C6346"} ! cervical carcinoma [Term] id: MONDO:0006134 @@ -105570,8 +106669,8 @@ xref: NCIT:C4519 {source="EFO:1000162", source="DOID:5636", source="exact-label- xref: ONCOTREE:CEAS {source="MONDO:equivalentTo"} xref: SCTID:254888007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:5636", source="MONDO:equivalentTo"} xref: UMLS:C0346202 {source="DOID:5636", source="NCIT:C4519", source="MONDO:equivalentTo"} -is_a: MONDO:0005131 {source="EFO:1000162", source="MONDO:0006134/inferred", source="MONDO:Redundant", source="MONDOLEX:0006134/inferred", source="NCIT:C4519", source="linkedlifedata"} ! cervical carcinoma -is_a: MONDO:0005153 {source="DOID:5636", source="linkedlifedata"} ! cervical adenocarcinoma +is_a: MONDO:0005131 {source="DOID:5636/inferred", source="EFO:1000162", source="MONDO:0006134/inferred", source="MONDO:Redundant", source="MONDOLEX:0006134/inferred", source="NCIT:C4519", source="linkedlifedata"} ! cervical carcinoma +is_a: MONDO:0005153 {source="DOID:5636", source="linkedlifedata", source="linkedlifedata/inferred"} ! cervical adenocarcinoma is_a: MONDO:0006074 {source="MONDOLEX:0006134", source="NCIT:C4519", source="linkedlifedata"} ! adenosquamous carcinoma [Term] @@ -105676,7 +106775,7 @@ xref: UMLS:C1516425 {source="DOID:8338", source="NCIT:C40208"} xref: UMLS:C4289808 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002742 {source="DOID:8338", source="MONDOLEX:0006141"} ! cervical mucinous adenocarcinoma is_a: MONDO:0003204 {source="NCIT:C40208"} ! villous adenocarcinoma -is_a: MONDO:0005153 {source="EFO:1000170", source="MONDO:Redundant", source="NCIT:C40208"} ! cervical adenocarcinoma +is_a: MONDO:0005153 {source="DOID:8338/inferred", source="EFO:1000170", source="MONDO:Redundant", source="NCIT:C40208"} ! cervical adenocarcinoma intersection_of: MONDO:0003204 ! villous adenocarcinoma intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -105754,7 +106853,7 @@ xref: DOID:5190 {source="MONDO:equivalentTo"} xref: EFO:1000173 {source="MONDO:equivalentTo"} xref: NCIT:C40236 {source="DOID:5190", source="EFO:1000173", source="MONDO:kboom-pr-0.94/0.86/0.21", source="MONDO:equivalentTo"} xref: UMLS:C1516437 {source="DOID:5190", source="NCIT:C40236", source="MONDO:equivalentTo"} -is_a: MONDO:0002974 {source="NCIT:C40236"} ! cervical cancer +is_a: MONDO:0002974 {source="DOID:5190/inferred", source="NCIT:C40236"} ! cervical cancer is_a: MONDO:0006058 {source="EFO:1000173", source="NCIT:C40236"} ! Wilms tumor intersection_of: MONDO:0006058 ! Wilms tumor intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -105828,6 +106927,7 @@ is_a: MONDO:0021091 {source="MONDOLEX:0006149", source="NCIT:C65203"} ! papillar id: MONDO:0006150 name: colon Burkitt lymphoma def: "A rare Burkitt lymphoma that arises from the colon." [NCIT:C27465] +synonym: "Burkitts lymphoma of colon" EXACT [MONDO:design_pattern] synonym: "colon Burkitt's lymphoma" EXACT [NCIT:C27465] synonym: "colon Burkitts lymphoma" EXACT [MONDO:patterns/location] synonym: "primary colon Burkitt's lymphoma" EXACT [NCIT:C27465] @@ -105849,7 +106949,7 @@ xref: EFO:1000183 {source="MONDO:equivalentTo"} xref: NCIT:C4847 {source="MONDO:kboom-pr-1.00/0.86/15.87", source="MONDO:otherHierarchy", source="MONDO:equivalentTo", source="EFO:1000183"} xref: SCTID:308870004 {source="MONDO:kboom-pr-0.77/0.38/0.76", source="MONDO:equivalentTo"} xref: UMLS:C1302363 {source="MONDO:equivalentTo"} -is_a: MONDO:0003409 {source="OWLReasoner:2017", source="linkedlife", source="linkedlifedata"} ! colonic disease +is_a: MONDO:0003409 {source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! colonic disease relationship: disease_has_location UBERON:0001155 ! colon [Term] @@ -105968,6 +107068,7 @@ def: "A diffuse large B-cell lymphoma that arises from the colon or rectum." [NC synonym: "colorectal diffuse large B-cell lymphoma" EXACT [NCIT:C96503] synonym: "colorectal DLBCL" EXACT [NCIT:C96503] synonym: "colorectum diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location] +synonym: "diffuse large B-cell lymphoma of colorectum" EXACT [MONDO:design_pattern] xref: EFO:1000191 {source="MONDO:equivalentTo"} xref: NCIT:C96503 {source="exact-label-match", source="EFO:1000191", source="MONDO:equivalentTo"} xref: UMLS:C3272827 {source="NCIT:C96503", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -106137,7 +107238,7 @@ xref: NCIT:C35423 {source="EFO:1000202", source="MONDO:kboom-pr-1.00/0.87/15.87" xref: SCTID:198322002 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0349578 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C35423", source="MONDO:equivalentTo"} is_a: MONDO:0005043 {source="EFO:1000202", source="NCIT:C35423/inferred"} ! hyperplasia -is_a: MONDO:0041161 {source="NCIT:C35423"} ! endometrial hyperplasia +is_a: MONDO:0041161 {source="NCIT:C35423", source="linkedlifedata/inferred"} ! endometrial hyperplasia [Term] id: MONDO:0006170 @@ -106169,7 +107270,7 @@ xref: NCIT:C4551 {source="EFO:1000205", source="exact-label-match", source="MOND xref: SCTID:255006004 {source="MONDO:equivalentTo"} xref: UMLS:C0346363 {source="NCIT:C4551", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000633 {source="DOID:0050906", source="MONDO:Redundant"} ! sensory organ benign neoplasm -is_a: MONDO:0005073 {source="EFO:1000205", source="MONDO:Redundant", source="NCIT:C4551"} ! melanocytic nevus +is_a: MONDO:0005073 {source="EFO:1000205", source="MONDO:Redundant", source="NCIT:C4551", source="linkedlifedata"} ! melanocytic nevus is_a: MONDO:0020204 {source="MONDO:Redundant", source="NCIT:C4551"} ! conjunctival tumor [Term] @@ -106193,7 +107294,7 @@ xref: SCTID:255003007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0346359 {source="NCIT:C4549", source="MONDO:equivalentTo", source="DOID:1748"} is_a: MONDO:0002466 {source="MONDO:Entailed", source="NCIT:C4549", source="OWLReasoner:2017"} ! eye carcinoma is_a: MONDO:0003454 {source="DOID:1748", source="MONDO:Entailed", source="NCIT:C4549", source="linkedlifedata"} ! conjunctival cancer -is_a: MONDO:0005096 {source="EFO:1000206", source="MONDO:Redundant", source="NCIT:C4549", source="linkedlifedata"} ! squamous cell carcinoma +is_a: MONDO:0005096 {source="DOID:1748", source="EFO:1000206", source="MONDO:Redundant", source="NCIT:C4549", source="linkedlifedata", source="linkedlifedata/inferred"} ! squamous cell carcinoma is_a: MONDO:0010150 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! head and neck squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0001811 ! conjunctiva @@ -106208,7 +107309,9 @@ synonym: "cortisol-producing adrenal cortex adenoma" EXACT [NCIT:C48449] xref: EFO:1000208 {source="MONDO:equivalentTo"} xref: NCIT:C48449 {source="exact-label-match", source="EFO:1000208", source="MONDO:equivalentTo"} xref: UMLS:C1707525 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C48449", source="MONDO:equivalentTo"} -is_a: MONDO:0003924 {source="MONDOLEX:0006174", source="NCIT:C48449", source="OWLReasoner:2017"} ! adrenal cortex adenoma +is_a: MONDO:0003924 {source="MONDOLEX:0006174", source="NCIT:C48449"} ! adrenal cortex adenoma +intersection_of: MONDO:0003924 ! adrenal cortex adenoma +intersection_of: realized_in GO:0043400 ! cortisol secretion relationship: disease_has_location UBERON:0001235 ! adrenal cortex [Term] @@ -106221,17 +107324,14 @@ replaced_by: MONDO:0018907 id: MONDO:0006176 name: cribriform carcinoma def: "A carcinoma characterized by the presence of a cribriform architectural pattern. Representative examples include the intraductal cribriform breast carcinoma and invasive cribriform breast carcinoma." [NCIT:C3680] -synonym: "cribriform carcinoma" EXACT [DOID:5675, NCIT:C3680] -synonym: "ductal carcinoma, cribriform type" EXACT [DOID:5675, SCTID:30156004] -xref: DOID:5675 {source="MONDO:equivalentTo"} +synonym: "cribriform carcinoma" EXACT [NCIT:C3680] xref: EFO:1000210 {source="MONDO:equivalentTo"} xref: ICDO:8201/3 {source="NCIT:C3680"} -xref: MESH:D000230 {source="DOID:5675", source="MONDO:directSiblingOf"} -xref: NCIT:C3680 {source="DOID:5675", source="EFO:1000210", source="exact-label-match", source="MONDO:equivalentTo"} -xref: SCTID:30156004 {source="DOID:5675"} -xref: UMLS:C0205643 {source="DOID:5675", source="MONDO:equivalentTo", source="NCIT:C3680"} -is_a: MONDO:0004989 {source="DOID:5675"} ! breast carcinoma +xref: NCIT:C3680 {source="EFO:1000210", source="exact-label-match", source="MONDO:equivalentTo"} +xref: UMLS:C0205643 {source="MONDO:equivalentTo", source="NCIT:C3680"} is_a: MONDO:0004993 {source="EFO:1000210", source="MONDO:Redundant", source="NCIT:C3680"} ! carcinoma +intersection_of: MONDO:0004993 ! carcinoma +intersection_of: disease_has_feature NCIT:C35920 [Term] id: MONDO:0006177 @@ -106479,7 +107579,7 @@ xref: ICDO:8260/1 {source="NCIT:C67560"} xref: NCIT:C67560 {source="EFO:1000230", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: SCTID:699817008 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C2348239 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C67560", source="MONDO:equivalentTo"} -is_a: MONDO:0005070 {source="EFO:1000230", source="MONDO:Redundant", source="NCIT:C67560/inferred", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="EFO:1000230", source="MONDO:Redundant", source="NCIT:C67560/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) is_a: MONDO:0021096 {source="NCIT:C67560"} ! papillary epithelial neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0002223 ! endolymphatic sac @@ -106533,7 +107633,7 @@ xref: NCIT:C40157 {source="EFO:1000234", source="MONDO:kboom-pr-1.00/0.93/31.20" xref: SCTID:134031000119108 {source="MONDO:kboom-pr-1.00/0.80/9.13", source="MONDO:equivalentTo"} xref: UMLS:C1516855 {source="NCIT:C40157"} is_a: MONDO:0005043 {source="EFO:1000234", source="NCIT:C40157/inferred"} ! hyperplasia -is_a: MONDO:0041161 {source="NCIT:C40157"} ! endometrial hyperplasia +is_a: MONDO:0041161 {source="NCIT:C40157", source="linkedlifedata"} ! endometrial hyperplasia [Term] id: MONDO:0006194 @@ -106583,6 +107683,8 @@ id: MONDO:0006197 name: endometrial small cell carcinoma def: "A primary carcinoma of the endometrium that is similar to the small cell carcinoma of the lung, histologically." [NCIT:C40155] synonym: "endometrial small cell carcinoma" EXACT [NCIT:C40155] +synonym: "endometrium small cell carcinoma" EXACT [MONDO:design_pattern] +synonym: "small cell carcinoma of endometrium" EXACT [MONDO:design_pattern] xref: DOID:7139 {source="MONDO:equivalentTo"} xref: EFO:1000239 {source="MONDO:equivalentTo"} xref: NCIT:C40155 {source="DOID:7139", source="EFO:1000239", source="exact-label-match", source="MONDO:equivalentTo"} @@ -106629,6 +107731,7 @@ intersection_of: disease_has_location UBERON:0001295 ! endometrium id: MONDO:0006200 name: epithelioid cell uveal melanoma def: "A uveal melanoma characterized by the presence of malignant large epithelioid melanocytes." [NCIT:C35780] +synonym: "epithelioid cell melanoma of uvea" EXACT [MONDO:design_pattern] synonym: "epithelioid cell uveal melanoma" EXACT [NCIT:C35780] synonym: "uvea epithelioid cell melanoma" EXACT [MONDO:patterns/location] synonym: "uveal epithelioid cell melanoma" EXACT [MONDO:0004084, NCIT:C35780] @@ -106638,7 +107741,7 @@ xref: NCIT:C35780 {source="DOID:7040", source="EFO:1000244", source="MONDO:equiv xref: UMLS:C0279692 {source="NCIT:C35780"} xref: UMLS:C1333422 {source="DOID:7040", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002973 {source="MONDO:Entailed", source="MONDOLEX:0006200", source="NCIT:C35780"} ! epithelioid cell melanoma -is_a: MONDO:0005105 {source="EFO:1000244", source="MONDO:Redundant", source="NCIT:C35780/inferred"} ! melanoma (disease) +is_a: MONDO:0005105 {source="DOID:7040/inferred", source="EFO:1000244", source="MONDO:Redundant", source="NCIT:C35780/inferred"} ! melanoma (disease) is_a: MONDO:0006486 {source="DOID:7040", source="MONDO:Entailed", source="NCIT:C35780"} ! uveal melanoma intersection_of: MONDO:0002973 ! epithelioid cell melanoma intersection_of: disease_has_location UBERON:0001768 ! uvea @@ -106725,8 +107828,8 @@ xref: SCTID:269602009 {source="DOID:1963"} xref: SCTID:276870001 {source="DOID:1963", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.97/0.92/0.80"} xref: SCTID:93794008 {source="DOID:1963"} xref: UMLS:C0238122 {source="NCIT:C3867", source="DOID:1963", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002158 {source="DOID:1963", source="MONDO:Entailed", source="MONDOLEX:0006206", source="NCIT:C3867", source="linkedlifedata"} ! fallopian tube cancer -is_a: MONDO:0004993 {source="DOID:1963", source="EFO:1000251", source="MONDO:Entailed", source="MONDOLEX:0006206", source="NCIT:C3867", source="linkedlifedata"} ! carcinoma +is_a: MONDO:0002158 {source="DOID:1963", source="MONDO:Entailed", source="MONDOLEX:0006206", source="NCIT:C3867", source="linkedlifedata", source="linkedlifedata/inferred"} ! fallopian tube cancer +is_a: MONDO:0004993 {source="DOID:1963", source="EFO:1000251", source="MONDO:Entailed", source="MONDOLEX:0006206", source="NCIT:C3867", source="linkedlifedata", source="linkedlifedata/inferred"} ! carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0003889 ! fallopian tube @@ -106820,7 +107923,7 @@ xref: Orphanet:401920 {source="MONDO:equivalentTo"} xref: SCTID:15619004 {source="DOID:5015"} xref: SCTID:253018005 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:5015", source="MONDO:equivalentTo"} xref: UMLS:C0334287 {source="DOID:5015", source="Orphanet:401920", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C4131"} -is_a: MONDO:0007256 {source="DOID:5015", source="EFO:1000256", source="NCIT:C4131"} ! hepatocellular carcinoma +is_a: MONDO:0007256 {source="DOID:5015", source="DOID:5015/inferred", source="EFO:1000256", source="MESH:C537258", source="NCIT:C4131"} ! hepatocellular carcinoma is_a: MONDO:0018531 {source="MONDO:Redundant", source="NCIT:C4131/inferred", source="Orphanet:401920"} ! carcinoma of liver and intrahepatic biliary tract [Term] @@ -106906,13 +108009,12 @@ xref: EFO:1000263 {source="MONDO:equivalentTo"} xref: NCIT:C7720 {source="EFO:1000263", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C0238137 {source="NCIT:C7720", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"} is_a: MONDO:0004972 {source="DOID:0050893", source="EFO:1000263", source="MONDO:Redundant", source="NCIT:C7720/inferred"} ! adenoma -is_a: MONDO:0005079 {source="EFO:1000263", source="MONDO:Redundant", source="NCIT:C7720/inferred"} ! polyp -is_a: MONDO:0005281 {source="MONDO:Redundant", source="NCIT:C7720/inferred", source="OWLReasoner:Elk-2018-01-05"} ! gallbladder disease -is_a: MONDO:0005304 {source="DOID:0050893"} ! biliary tract neoplasm (disease) +is_a: MONDO:0005079 {source="EFO:1000263"} ! polyp is_a: MONDO:0006180 {source="NCIT:C7720"} ! digestive system adenoma is_a: MONDO:0021416 {source="MONDO:Entailed", source="NCIT:C7720", source="OWLReasoner:Elk-2018-01-09"} ! polyp of gallbladder intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0002110 ! gall bladder +relationship: excluded_subClassOf MONDO:0005304 {source="DOID:0050893"} ! biliary tract neoplasm (disease) [Term] id: MONDO:0006217 @@ -106965,6 +108067,7 @@ synonym: "gallbladder small cell NEC" EXACT [NCIT:C6763] synonym: "gallbladder small cell neuroendocrine carcinoma" EXACT [NCIT:C6763] synonym: "Oat cell carcinoma of gallbladder" EXACT [NCIT:C6763] synonym: "Oat cell carcinoma of the gallbladder" EXACT [DOID:7133, NCIT:C6763] +synonym: "small cell carcinoma of gall bladder" EXACT [MONDO:design_pattern] synonym: "small cell carcinoma of gallbladder" EXACT [NCIT:C6763] synonym: "small cell carcinoma of the gallbladder" EXACT [NCIT:C6763] xref: DOID:7133 {source="MONDO:equivalentTo"} @@ -107072,6 +108175,7 @@ def: "A mantle cell lymphoma that affects the stomach. It may arise as a solitar synonym: "gastric mantle cell lymphoma" EXACT [NCIT:C27440] synonym: "mantle cell lymphoma of stomach" EXACT [NCIT:C27440] synonym: "mantle cell lymphoma of the stomach" EXACT [NCIT:C27440] +synonym: "stomach mantle cell lymphoma" EXACT [MONDO:design_pattern] xref: EFO:1000272 {source="MONDO:equivalentTo"} xref: NCIT:C27440 {source="EFO:1000272", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1333780 {source="NCIT:C27440", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -107095,6 +108199,7 @@ synonym: "primary gastric B-cell MALT lymphoma" EXACT [NCIT:C5266] synonym: "primary gastric MALT lymphoma" EXACT [NCIT:C5266] synonym: "primary MALT lymphoma of stomach" EXACT [NCIT:C5266] synonym: "primary MALT lymphoma of the stomach" EXACT [NCIT:C5266] +synonym: "stomach MALT lymphoma" EXACT [MONDO:design_pattern] xref: EFO:1000274 {source="MONDO:equivalentTo"} xref: NCIT:C5266 {source="EFO:1000274", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1333782 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5266", source="MONDO:equivalentTo"} @@ -107163,7 +108268,7 @@ xref: NCIT:C6764 {source="MONDO:kboom-pr-1.00/0.87/13.24", source="EFO:1000277", xref: ONCOTREE:STSC {source="MONDO:equivalentTo"} xref: UMLS:C1333788 {source="DOID:6552", source="NCIT:C6764", source="MONDO:equivalentTo"} is_a: MONDO:0000402 {source="DOID:6552", source="MONDO:Entailed", source="MONDO:Redundant", source="MONDOLEX:0006229", source="NCIT:C6764"} ! small cell carcinoma -is_a: MONDO:0004950 {source="EFO:1000277", source="MONDO:Redundant", source="NCIT:C6764/inferred"} ! gastric carcinoma +is_a: MONDO:0004950 {source="DOID:6552", source="EFO:1000277", source="MONDO:Redundant", source="NCIT:C6764/inferred"} ! gastric carcinoma intersection_of: MONDO:0000402 ! small cell carcinoma intersection_of: disease_has_location UBERON:0000945 ! stomach @@ -107315,29 +108420,45 @@ is_a: MONDO:0006861 {source="MONDOLEX:0006237", source="NCIT:C35815"} ! myeloid [Term] id: MONDO:0006238 name: growth hormone-producing pituitary gland adenoma +alt_id: MONDO:0005332 def: "An adenoma of the anterior lobe of the pituitary gland that produces growth hormone. The vast majority of cases are hormonally functioning and are associated with either gigantism or acromegaly." [NCIT:C7461] +subset: ordo_group_of_disorders {source="Orphanet:96256"} synonym: "GH cell adenoma" EXACT [NCIT:C7461] -synonym: "Growth hormone producing adenoma of pituitary" EXACT [NCIT:C7461] -synonym: "Growth hormone producing adenoma of pituitary gland" EXACT [NCIT:C7461] -synonym: "Growth hormone producing adenoma of the pituitary" EXACT [NCIT:C7461] -synonym: "Growth hormone producing adenoma of the pituitary gland" EXACT [NCIT:C7461] -synonym: "Growth hormone producing pituitary adenoma" EXACT [NCIT:C7461] -synonym: "Growth hormone producing pituitary gland adenoma" EXACT [NCIT:C7461] -synonym: "Growth hormone secreting adenoma of pituitary" EXACT [NCIT:C7461] -synonym: "Growth hormone secreting adenoma of pituitary gland" EXACT [NCIT:C7461] -synonym: "Growth hormone secreting adenoma of the pituitary" EXACT [NCIT:C7461] -synonym: "Growth hormone secreting adenoma of the pituitary gland" EXACT [NCIT:C7461] -synonym: "Growth hormone secreting pituitary adenoma" EXACT [NCIT:C7461] -synonym: "Growth hormone secreting pituitary gland adenoma" EXACT [NCIT:C7461] -synonym: "Growth hormone-producing adenoma" EXACT [NCIT:C7461] -synonym: "Growth hormone-producing pituitary gland adenoma" EXACT [NCIT:C7461] +synonym: "growth hormone producing adenoma of pituitary" EXACT [NCIT:C7461] +synonym: "growth hormone producing adenoma of pituitary gland" EXACT [NCIT:C7461] +synonym: "growth hormone producing adenoma of the pituitary" EXACT [DOID:6255, NCIT:C7461] +synonym: "growth hormone producing adenoma of the pituitary gland" EXACT [NCIT:C7461] +synonym: "growth hormone producing pituitary adenoma" EXACT [NCIT:C7461] +synonym: "growth hormone producing pituitary gland adenoma" EXACT [NCIT:C7461] +synonym: "growth hormone secreting adenoma of pituitary" EXACT [DOID:6255, NCIT:C7461] +synonym: "growth hormone secreting adenoma of pituitary gland" EXACT [NCIT:C7461] +synonym: "growth hormone secreting adenoma of the pituitary" EXACT [NCIT:C7461] +synonym: "growth hormone secreting adenoma of the pituitary gland" EXACT [NCIT:C7461] +synonym: "growth hormone secreting pituitary adenoma" EXACT [NCIT:C7461] +synonym: "growth hormone secreting pituitary gland adenoma" EXACT [NCIT:C7461] +synonym: "growth hormone-producing adenoma" EXACT [NCIT:C7461] +synonym: "growth hormone-producing pituitary gland adenoma" EXACT [NCIT:C7461] +synonym: "Somatotroph adenoma" EXACT [DOID:6255] synonym: "somatotroph adenoma" EXACT [NCIT:C7461] +synonym: "somatotroph adenoma (disorder)" EXACT [DOID:6255, SCTID:254957009] +synonym: "somatotropic adenoma" RELATED [Orphanet:96256] +xref: DOID:6255 {source="MONDO:equivalentTo"} +xref: EFO:0004125 {source="MONDO:equivalentTo"} xref: EFO:1000287 {source="MONDO:equivalentTo"} +xref: ICD10:D35.2 {source="ORDO:96256/nd", source="Orphanet:96256", source="MONDO:relatedTo"} +xref: ICD10:E22.0 {source="ORDO:96256/nd", source="Orphanet:96256"} +xref: MESH:D049912 {source="DOID:6255", source="EFO:0004125"} xref: NCIT:C7461 {source="EFO:1000287", source="MONDO:equivalentTo"} +xref: OMIM:102200 {source="ORDO:96256/e", source="Orphanet:96256", source="EFO:0004125", source="MONDO:superClassOf"} +xref: OMIM:300943 {source="EFO:0004125", source="MONDO:superClassOf"} +xref: Orphanet:96256 {source="MONDO:equivalentTo"} xref: SCTID:254957009 {source="MONDO:kboom-pr-0.92/0.83/0.11", source="MONDO:equivalentTo"} -xref: UMLS:C0346302 {source="NCIT:C7461"} -is_a: MONDO:0006373 {source="MONDO:Redundant", source="NCIT:C7461", source="linkedlifedata"} ! pituitary gland adenoma +xref: UMLS:C0346302 {source="NCIT:C7461", source="Orphanet:96256"} +is_a: MONDO:0006373 {source="DOID:6255/inferred", source="MONDO:Redundant", source="NCIT:C7461", source="Orphanet:96256/inferred", source="linkedlifedata"} ! pituitary gland adenoma is_a: MONDO:0019927 {source="NCIT:C7461"} ! growth hormone-producing pituitary gland neoplasm +intersection_of: MONDO:0004972 ! adenoma +intersection_of: disease_has_location UBERON:0000007 ! pituitary gland +intersection_of: realized_in GO:0030252 ! growth hormone secretion [Term] id: MONDO:0006239 @@ -107345,6 +108466,7 @@ name: head and neck paraganglioma def: "A benign or malignant extra-adrenal paraganglioma arising from paraganglia in the head and neck. Representative examples include the carotid body and jugulotympanic paragangliomas." [NCIT:C5327] synonym: "craniocervical region paraganglioma" EXACT [MONDO:patterns/location] synonym: "head and neck paraganglioma" EXACT [NCIT:C5327] +synonym: "paraganglioma of craniocervical region" EXACT [MONDO:design_pattern] synonym: "paraganglioma of head and neck" EXACT [NCIT:C5327] synonym: "paraganglioma of the head and neck" EXACT [NCIT:C5327] xref: EFO:1000288 {source="MONDO:equivalentTo"} @@ -107412,7 +108534,9 @@ xref: SCTID:427685000 {source="MONDO:kboom-pr-0.78/0.38/0.81", source="MONDO:equ xref: UMLS:C1960398 {source="NCIT:C53556", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0004989 {source="EFO:1000294", source="MONDO:Redundant", source="NCIT:C53556/inferred", source="linkedlifedata"} ! breast carcinoma is_a: MONDO:0006116 {source="NCIT:C53556"} ! breast carcinoma by gene expression profile -is_a: MONDO:0007254 {source="DOID:0060079", source="NCIT:C53556/inferred", source="linkedlife/inferred"} ! breast cancer +is_a: MONDO:0007254 {source="DOID:0060079", source="NCIT:C53556/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! breast cancer +intersection_of: MONDO:0007254 ! breast cancer +intersection_of: disease_has_feature NCIT:C68748 [Term] id: MONDO:0006245 @@ -107457,9 +108581,9 @@ xref: NCIT:C9294 {source="EFO:1000297", source="exact-label-match", source="MOND xref: Orphanet:98287 {source="MONDO:equivalentTo"} xref: UMLS:C1334030 {source="NCIT:C9294", source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} xref: UMLS:CN206982 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0005070 {source="EFO:1000297", source="NCIT:C9294/inferred"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="DOID:5621/inferred", source="EFO:1000297", source="NCIT:C9294/inferred"} ! neoplasm (disease) is_a: MONDO:0015757 {source="Orphanet:98287"} ! lymphoid hemopathy -is_a: MONDO:0044881 ! hematopoietic and lymphoid cell neoplasm +is_a: MONDO:0044881 {source="NCIT:C9294"} ! hematopoietic and lymphoid cell neoplasm [Term] id: MONDO:0006248 @@ -107522,11 +108646,11 @@ xref: NCIT:C4935 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000300", xref: SCTID:425318003 {source="MONDO:equivalentTo"} xref: UMLS:C0745216 {source="NCIT:C4935", source="MONDO:equivalentTo"} is_a: MONDO:0000540 {source="MONDO:Entailed", source="NCIT:C4935", source="linkedlifedata"} ! small intestinal neuroendocrine tumor G1 -is_a: MONDO:0005369 {source="EFO:1000300", source="MONDO:Redundant", source="NCIT:C4935/inferred", source="linkedlifedata"} ! carcinoid tumor (disease) +is_a: MONDO:0005369 {source="EFO:1000300", source="MONDO:Redundant", source="NCIT:C4935/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! carcinoid tumor (disease) is_a: MONDO:0005401 {source="EFO:1000300", source="MONDO:Redundant"} ! colonic neoplasm is_a: MONDO:0006801 {source="MONDO:Redundant", source="NCIT:C4935/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! ileal neoplasm is_a: MONDO:0015065 {source="MONDO:Entailed", source="NCIT:C4935"} ! ileal neuroendocrine tumor, well differentiated, low or intermediate grade -is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C4935/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlife", source="linkedlifedata"} ! intestinal neuroendocrine tumor G1 +is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C4935/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal neuroendocrine tumor G1 intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0002116 ! ileum intersection_of: has_modifier MONDO:0024491 ! tumor grade 1, general grading system @@ -107682,7 +108806,7 @@ xref: EFO:1000317 {source="MONDO:equivalentTo"} xref: NCIT:C4540 {source="DOID:4870", source="exact-label-match", source="EFO:1000317", source="MONDO:equivalentTo"} xref: SCTID:254987003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4870", source="MONDO:equivalentTo"} xref: UMLS:C0346340 {source="NCIT:C4540", source="DOID:4870", source="MONDO:equivalentTo"} -is_a: MONDO:0002463 {source="MONDO:Redundant", source="NCIT:C4540"} ! lacrimal gland carcinoma +is_a: MONDO:0002463 {source="DOID:4870/inferred", source="MONDO:Redundant", source="NCIT:C4540"} ! lacrimal gland carcinoma is_a: MONDO:0002475 {source="DOID:4870", source="linkedlifedata"} ! lacrimal gland adenocarcinoma is_a: MONDO:0004971 {source="EFO:1000317", source="MONDO:Entailed", source="MONDOLEX:0006262", source="NCIT:C4540"} ! adenoid cystic carcinoma intersection_of: MONDO:0004971 ! adenoid cystic carcinoma @@ -107752,12 +108876,13 @@ xref: NCIT:C3188 {source="EFO:1000321", source="DOID:2696", source="NCIT:C3188", xref: SCTID:189739005 {source="DOID:2696"} xref: SCTID:45002009 {source="DOID:2696"} xref: UMLS:C0023601 {source="DOID:2696", source="NCIT:C3188", source="MONDO:equivalentTo"} -is_a: MONDO:0006055 {source="NCIT:C3188"} ! sex cord-stromal tumor +is_a: MONDO:0006055 {source="DOID:2696/inferred", source="NCIT:C3188"} ! sex cord-stromal tumor [Term] id: MONDO:0006267 name: liver cavernous hemangioma def: "A hemangioma with cavernous vascular spaces arising from the liver. It is the most frequent benign tumor of the liver and usually affects young females." [NCIT:C96839] +synonym: "cavernous hemangioma of liver" EXACT [MONDO:design_pattern] synonym: "liver cavernous hemangioma" EXACT [MONDO:patterns/location, NCIT:C96839] xref: EFO:1000322 {source="MONDO:equivalentTo"} xref: NCIT:C96839 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000322", source="DesignPattern", source="MONDO:equivalentTo"} @@ -107772,6 +108897,7 @@ intersection_of: disease_has_location UBERON:0002107 ! liver id: MONDO:0006268 name: liver diffuse large B-cell lymphoma def: "A rare diffuse large B-cell lymphoma that arises from the liver and the bulk of the tumor is located in the liver." [NCIT:C96843] +synonym: "diffuse large B-cell lymphoma of liver" EXACT [MONDO:design_pattern] synonym: "hepatic diffuse large B-cell lymphoma" EXACT [NCIT:C96843] synonym: "liver diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C96843] synonym: "primary hepatic diffuse large B-cell lymphoma" EXACT [NCIT:C96843] @@ -107946,6 +109072,8 @@ name: lung lymphangioleiomyomatosis def: "Lymphangiomyomatosis involving the lungs and local lymph nodes. Patients usually present with chylous pleural effusion. The clinical course is variable. Patients with resectable lesions usually have a favorable clinical outcome. Patients with diffuse lesions usually have a progressive clinical course." [NCIT:C38153] synonym: "lung lymphangioleiomyomatosis" EXACT [MONDO:patterns/location, NCIT:C38153] synonym: "lung lymphangiomyomatosis" EXACT [NCIT:C38153] +synonym: "lymphangioleiomyomatosis" RELATED [DOID:3319] +synonym: "lymphangiomyomatosis" EXACT [DOID:3319] synonym: "pulmonary lymphangioleiomyomatosis" EXACT [] synonym: "pulmonary lymphangiomyomatosis" RELATED [ONCOTREE:LAM] xref: COHD:4174275 {source="MONDO:equivalentTo"} @@ -108036,8 +109164,8 @@ xref: SCTID:72079004 {source="DOID:495"} xref: UMLS:C1334455 {source="DOID:5766", source="NCIT:C5656"} xref: UMLS:C1509148 {source="DOID:495", source="MONDO:equivalentTo"} is_a: MONDO:0003194 {source="DOID:5766", source="MONDOLEX:0006280"} ! hemangioma of lung -is_a: MONDO:0006500 {source="DOID:495", source="EFO:1001136"} ! hemangioma -is_a: MONDO:0021117 {source="NCIT:C5656"} ! lung neoplasm +is_a: MONDO:0006500 {source="DOID:495", source="DOID:5766/inferred", source="EFO:1001136"} ! hemangioma +is_a: MONDO:0021117 {source="MESH:D047868", source="NCIT:C5656", source="NCIT:C5656/inferred"} ! lung neoplasm relationship: excluded_subClassOf MONDO:0005138 {source="EFO:1000337"} ! lung carcinoma relationship: has_modifier PATO:0002096 ! neoplastic, non-malignant @@ -108114,7 +109242,7 @@ xref: EFO:1000344 {source="MONDO:equivalentTo"} xref: NCIT:C5907 {source="EFO:1000344", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1334549 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5907"} is_a: MONDO:0000521 {source="MONDO:Entailed", source="MONDOLEX:0006284", source="NCIT:C5907"} ! salivary gland carcinoma -is_a: MONDO:0004669 {source="MONDO:0006284/inferred", source="MONDO:Redundant", source="MONDOLEX:0006284/inferred", source="NCIT:C5907"} ! salivary gland cancer +is_a: MONDO:0004669 {source="MONDO:0006284/inferred", source="MONDO:Redundant", source="MONDOLEX:0006284/inferred", source="NCIT:C5907", source="NCIT:C5907/inferred"} ! salivary gland cancer is_a: MONDO:0021368 {source="MONDO:0006284/inferred", source="MONDO:Entailed", source="MONDOLEX:0006284/inferred", source="NCIT:C5907/inferred", source="OWLReasoner:Elk-2018-01-09"} ! neoplasm of major salivary gland intersection_of: MONDO:0004993 {source="NCIT:C5907"} ! carcinoma intersection_of: disease_has_location UBERON:0001829 {source="NCIT:C5907"} ! major salivary gland @@ -108174,7 +109302,7 @@ xref: ICDO:9250/3 {source="NCIT:C4304"} xref: NCIT:C4304 {source="DOID:4719", source="EFO:1000347", source="MONDO:equivalentTo"} xref: SCTID:10069009 {source="DOID:4719"} xref: UMLS:C0334552 {source="NCIT:C4304", source="DOID:4719", source="MONDO:equivalentTo"} -is_a: MONDO:0002402 {source="DOID:4719", source="MONDOLEX:0006287"} ! malignant giant cell tumor +is_a: MONDO:0002402 {source="DOID:4719", source="MONDOLEX:0006287", source="NCIT:C4304/inferred"} ! malignant giant cell tumor is_a: MONDO:0021054 {source="MONDOLEX:0006287", source="NCIT:C4304"} ! bone sarcoma [Term] @@ -108343,12 +109471,13 @@ xref: SCTID:363433009 {source="DOID:5158", source="MONDO:equivalentTo", source=" xref: SCTID:93966009 {source="DOID:5158"} xref: UMLS:C0032229 {source="DOID:5158", source="MONDO:subClassOf"} xref: UMLS:C0153494 {source="NCIT:C3547", source="DOID:5158", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000376 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! respiratory system cancer -is_a: MONDO:0002037 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! pleural disease -is_a: MONDO:0002176 {source="DOID:5158"} ! connective tissue cancer +is_a: MONDO:0000376 {source="linkedlifedata"} ! respiratory system cancer +is_a: MONDO:0002037 {source="linkedlifedata/inferred"} ! pleural disease +is_a: MONDO:0003274 {source="NCIT:C3547"} ! thoracic cancer is_a: MONDO:0021065 {source="MONDO:Entailed", source="MONDOLEX:0006294", source="NCIT:C3547", source="linkedlifedata"} ! pleural neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000977 ! pleura +relationship: excluded_subClassOf MONDO:0002176 {source="DOID:5158"} ! connective tissue cancer [Term] id: MONDO:0006295 @@ -108373,8 +109502,8 @@ xref: SCTID:190132004 {source="DOID:3996"} xref: SCTID:448233000 {source="DOID:3996", source="MONDO:equivalentTo"} xref: UMLS:C0348371 {source="DOID:3996"} xref: UMLS:C0751571 {source="NCIT:C9297"} -is_a: MONDO:0004992 {source="DOID:3996", source="MONDO:Entailed", source="MONDOLEX:0006295"} ! cancer -is_a: MONDO:0021066 {source="MONDO:Entailed", source="MONDOLEX:0006295", source="NCIT:C9297", source="OWLReasoner:2017"} ! urinary system neoplasm +is_a: MONDO:0004992 {source="DOID:3996", source="DOID:3996/inferred", source="MONDO:Entailed", source="MONDOLEX:0006295", source="linkedlifedata/inferred"} ! cancer +is_a: MONDO:0021066 {source="MONDO:Entailed", source="MONDOLEX:0006295", source="NCIT:C9297", source="OWLReasoner:2017", source="linkedlifedata/inferred"} ! urinary system neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001008 ! renal system @@ -108562,10 +109691,10 @@ xref: NCIT:C5248 {source="EFO:1000386", source="MONDO:kboom-pr-0.93/0.86/0.11", xref: ONCOTREE:MSTAD {source="MONDO:equivalentTo"} xref: UMLS:C1334809 {source="NCIT:C5248", source="MONDO:equivalentTo", source="DOID:3716"} is_a: MONDO:0004957 {source="EFO:1000386", source="MONDO:Entailed", source="MONDOLEX:0006309", source="NCIT:C5248"} ! mucinous adenocarcinoma -is_a: MONDO:0005017 {source="DOID:3716"} ! diffuse gastric adenocarcinoma -is_a: MONDO:0005036 {source="EFO:1000386", source="MONDO:Redundant", source="NCIT:C5248/inferred", source="ONCOTREE:MSTAD"} ! gastric adenocarcinoma +is_a: MONDO:0005036 {source="DOID:3716/inferred", source="EFO:1000386", source="MONDO:Redundant", source="NCIT:C5248/inferred", source="ONCOTREE:MSTAD"} ! gastric adenocarcinoma intersection_of: MONDO:0004957 ! mucinous adenocarcinoma intersection_of: disease_has_location UBERON:0000945 ! stomach +relationship: excluded_subClassOf MONDO:0005017 {source="DOID:3716"} ! diffuse gastric adenocarcinoma [Term] id: MONDO:0006310 @@ -108657,7 +109786,7 @@ xref: NCIT:C3256 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000391", xref: SCTID:52756005 {source="MONDO:kboom-pr-0.76/0.38/0.68", source="MONDO:equivalentTo"} xref: UMLS:C0027430 {source="NCIT:C3256", source="MONDO:equivalentTo"} is_a: MONDO:0002232 {source="MONDO:Redundant", source="NCIT:C3256"} ! nasal cavity disease -is_a: MONDO:0005079 {source="EFO:1000391", source="MONDO:Entailed", source="NCIT:C3256", source="linkedlifedata"} ! polyp +is_a: MONDO:0005079 {source="EFO:1000391", source="MESH:D009298", source="MONDO:Entailed", source="NCIT:C3256", source="linkedlifedata"} ! polyp intersection_of: MONDO:0005079 ! polyp intersection_of: disease_has_location UBERON:0001707 ! nasal cavity @@ -108724,9 +109853,11 @@ is_a: MONDO:0005105 {source="EFO:1000397", source="NCIT:C8711"} ! melanoma (dise id: MONDO:0006321 name: non-functioning adrenal cortex adenoma def: "An adenoma of the adrenal cortex characterized by the absence of a hormonal syndrome or symptoms suggestive of adrenal disease." [NCIT:C48458] +synonym: "adrenal cortex non-functioning endocrine neoplasm" EXACT [MONDO:design_pattern] synonym: "adrenal cortical incidentaloma" EXACT [NCIT:C48458] synonym: "non-functioning adrenal cortex adenoma" EXACT [NCIT:C48458] synonym: "non-functioning adrenal cortical adenoma" EXACT [NCIT:C48458] +synonym: "non-functioning endocrine neoplasm of adrenal cortex" EXACT [MONDO:design_pattern] xref: EFO:1000399 {source="MONDO:equivalentTo"} xref: NCIT:C48458 {source="EFO:1000399", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1709240 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C48458", source="MONDO:equivalentTo"} @@ -108784,8 +109915,8 @@ xref: GARD:0007236 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: NCIT:C8562 {source="EFO:1000403", source="exact-label-match", source="MONDO:equivalentTo"} xref: ONCOTREE:OM {source="MONDO:equivalentTo"} xref: UMLS:C0558356 {source="NCIT:C8562"} -is_a: MONDO:0002236 {source="NCIT:C8562"} ! ocular cancer -is_a: MONDO:0005105 {source="DOID:1752", source="EFO:1000403", source="MONDO:Entailed", source="NCIT:C8562/inferred"} ! melanoma (disease) +is_a: MONDO:0002236 {source="DOID:1752", source="NCIT:C8562"} ! ocular cancer +is_a: MONDO:0005105 {source="DOID:1752", source="EFO:1000403", source="MONDO:Entailed", source="NCIT:C8562", source="NCIT:C8562/inferred"} ! melanoma (disease) intersection_of: MONDO:0005105 ! melanoma (disease) intersection_of: disease_has_location UBERON:0010230 ! eyeball of camera-type eye relationship: excluded_subClassOf MONDO:0006320 {source="NCIT:C8562", source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/22"} ! non-cutaneous melanoma @@ -108858,7 +109989,7 @@ xref: SCTID:422886007 {source="DOID:369", source="MONDO:relatedTo"} xref: SCTID:68614005 {source="DOID:369"} xref: SCTID:76060004 {source="DOID:369"} xref: UMLS:C0206717 {source="NCIT:C3789", source="DOID:369"} -is_a: MONDO:0002433 {source="MONDO:Entailed", source="NCIT:C3789/inferred", source="OWLReasoner:Elk-2018-01-05"} ! malignant cranial nerve neoplasm +is_a: MONDO:0002433 {source="DOID:369/inferred", source="MONDO:Entailed", source="NCIT:C3789/inferred", source="OWLReasoner:Elk-2018-01-05"} ! malignant cranial nerve neoplasm is_a: MONDO:0002722 {source="DOID:369", source="NCIT:C3789/inferred"} ! olfactory nerve neoplasm is_a: MONDO:0002749 {source="NCIT:C3789"} ! extracranial neuroblastoma is_a: MONDO:0005072 {source="EFO:1000407", source="MONDO:Redundant", source="NCIT:C3789/inferred"} ! neuroblastoma @@ -108923,6 +110054,7 @@ synonym: "endometrioid carcinoma ovary" EXACT [DOID:5828] synonym: "endometrioid carcinoma ovary (disorder)" EXACT [DOID:5828, SCTID:254852002] synonym: "endometrioid ovarian cancer" RELATED [ONCOTREE:EOV] synonym: "endometrioid ovary carcinoma" EXACT [MONDO:0003662] +synonym: "endometrium adenocarcinoma of ovary" EXACT [MONDO:design_pattern] synonym: "ovarian endometrioid adenocarcinoma" EXACT [NCIT:C7979] synonym: "ovarian endometrioid adenocarcinoma NOS" RELATED EXCLUDE [NCIT:C7979] synonym: "ovarian endometrioid adenocarcinoma not otherwise specified" RELATED EXCLUDE [NCIT:C7979] @@ -108942,7 +110074,7 @@ is_a: MONDO:0003812 {source="NCIT:C7979"} ! ovarian endometrial cancer is_a: MONDO:0005026 {source="MONDOLEX:0006335", source="NCIT:C7979"} ! endometrioid adenocarcinoma is_a: MONDO:0005461 {source="EFO:1000416", source="MONDO:Entailed", source="MONDOLEX:0006335"} ! endometrium adenocarcinoma is_a: MONDO:0016252 {source="OWLReasoner:Elk-2018-01-05"} ! rare uterine cancer -is_a: MONDO:0018364 {source="MONDO:0006335/inferred", source="MONDO:Redundant", source="MONDOLEX:0006335/inferred", source="NCIT:C7979/inferred", source="Orphanet:454723", source="linkedlifedata"} ! malignant epithelial tumor of ovary +is_a: MONDO:0018364 {source="DOID:5828/inferred", source="MONDO:0006335/inferred", source="MONDO:Redundant", source="MONDOLEX:0006335/inferred", source="NCIT:C7979/inferred", source="Orphanet:454723", source="linkedlifedata"} ! malignant epithelial tumor of ovary intersection_of: MONDO:0005461 ! endometrium adenocarcinoma intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -108974,8 +110106,8 @@ xref: SCTID:198250000 {source="DOID:11432"} xref: SCTID:266589005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11432", source="MONDO:equivalentTo"} xref: SCTID:31007005 {source="DOID:11432"} xref: UMLS:C0156344 {source="NCIT:C27628", source="DOID:11432", source="MONDO:equivalentTo"} -is_a: MONDO:0005133 {source="DOID:11432", source="EFO:1000418", source="ICD10:N80.1", source="MONDO:Entailed", source="NCIT:C27628", source="linkedlifedata"} ! endometriosis (disease) -is_a: MONDO:0005558 {source="MONDO:Entailed", source="NCIT:C27628/inferred", source="OWLReasoner:2017"} ! ovarian disease +is_a: MONDO:0005133 {source="DOID:11432", source="EFO:1000418", source="ICD10:N80.1", source="MONDO:Entailed", source="NCIT:C27628", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease) +is_a: MONDO:0005558 {source="DOID:11432", source="MONDO:Entailed", source="NCIT:C27628/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! ovarian disease intersection_of: MONDO:0005133 ! endometriosis (disease) intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -109001,6 +110133,8 @@ id: MONDO:0006340 name: ovarian serous adenofibroma def: "A benign neoplasm of the ovary characterized by the presence of glands with serous epithelial cells in a fibrotic stroma." [NCIT:C40031] synonym: "ovarian serous adenofibroma" EXACT [NCIT:C40031] +synonym: "ovary serous adenofibroma" EXACT [MONDO:design_pattern] +synonym: "serous adenofibroma of ovary" EXACT [MONDO:design_pattern] xref: DOID:5474 {source="MONDO:equivalentTo"} xref: EFO:1000428 {source="MONDO:equivalentTo"} xref: NCIT:C40031 {source="DOID:5474", source="exact-label-match", source="EFO:1000428", source="MONDO:equivalentTo"} @@ -109104,7 +110238,7 @@ xref: SCTID:203045001 {source="MONDO:kboom-pr-0.83/0.48/1.02", source="MONDO:equ xref: SCTID:274142002 {source="MONDO:directSiblingOf", source="EFO:0004229"} xref: SCTID:410812005 {source="EFO:0004229"} xref: UMLS:C0013312 {source="NCIT:C3469"} -is_a: MONDO:0003900 {source="MESH:D004387", source="MONDO:Redundant", source="linkedlifedata"} ! connective tissue disease +is_a: MONDO:0003900 {source="MESH:D004387", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! connective tissue disease is_a: MONDO:0005031 {source="EFO:1000438", source="MONDO:Redundant", source="MONDO:cjm", source="NCIT:C3469/inferred"} ! fibromatosis is_a: MONDO:0005307 {source="EFO:0004229", source="MESH:D004387"} ! contracture is_a: MONDO:0016037 {source="NCIT:C3469"} ! superficial fibromatosis @@ -109136,8 +110270,8 @@ xref: NCIT:C7977 {source="DOID:5742", source="EFO:1000439", source="MONDO:equiva xref: ONCOTREE:PAAC {source="MONDO:equivalentTo"} xref: Orphanet:424046 {source="MONDO:equivalentTo"} xref: UMLS:C0279661 {source="DOID:5742", source="NCIT:C7977", source="MEDGEN:kboom-pr98-c99", source="Orphanet:424046", source="MONDO:equivalentTo"} -is_a: MONDO:0004965 {source="EFO:1000439", source="MONDO:Entailed", source="MONDOLEX:0006346", source="NCIT:C7977"} ! acinar cell carcinoma -is_a: MONDO:0006047 {source="MONDO:Entailed", source="MONDOLEX:0006346", source="NCIT:C7977"} ! pancreatic adenocarcinoma +is_a: MONDO:0004965 {source="DOID:5742", source="EFO:1000439", source="MONDO:Entailed", source="MONDOLEX:0006346", source="NCIT:C7977"} ! acinar cell carcinoma +is_a: MONDO:0006047 {source="DOID:5742", source="MONDO:Entailed", source="MONDOLEX:0006346", source="NCIT:C7977"} ! pancreatic adenocarcinoma is_a: MONDO:0016314 {source="Orphanet:424046"} ! rare carcinoma of pancreas intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location CL:0002064 ! pancreatic acinar cell @@ -109147,6 +110281,7 @@ relationship: disease_has_location CL:0000622 {source="EFO:0000784"} ! acinar ce id: MONDO:0006347 name: pancreatic large cell neuroendocrine carcinoma def: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the pancreas. It is characterized by the presence of malignant large cells." [NCIT:C95582] +synonym: "large cell neuroendocrine carcinoma of pancreas" EXACT [MONDO:design_pattern] synonym: "pancreas large cell neuroendocrine carcinoma" EXACT [MONDO:patterns/location] synonym: "pancreatic large cell NEC" EXACT [NCIT:C95582] synonym: "pancreatic large cell NEC G3" EXACT [NCIT:C95582] @@ -109171,6 +110306,7 @@ synonym: "endocrine pancreas small cell carcinoma" EXACT [MONDO:patterns/locatio synonym: "pancreatic small cell NEC" EXACT [NCIT:C95583] synonym: "pancreatic small cell NEC G3" EXACT [NCIT:C95583] synonym: "pancreatic small cell neuroendocrine carcinoma" EXACT [NCIT:C95583] +synonym: "small cell carcinoma of endocrine pancreas" EXACT [MONDO:design_pattern] xref: EFO:1000444 {source="MONDO:equivalentTo"} xref: NCIT:C95583 {source="EFO:1000444", source="MONDO:equivalentTo"} xref: UMLS:C2987240 {source="NCIT:C95583", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -109270,7 +110406,7 @@ xref: HP:0008208 {source="MONDO:otherHierarchy", source="ontobio"} xref: NCIT:C3989 {source="EFO:1000457", source="MONDO:equivalentTo"} xref: SCTID:9092004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0271844 {source="NCIT:C3989", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001223 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! parathyroid gland disease +is_a: MONDO:0001223 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! parathyroid gland disease is_a: MONDO:0005043 {source="EFO:1000457", source="MONDO:Entailed", source="NCIT:C3989"} ! hyperplasia intersection_of: MONDO:0005043 ! hyperplasia intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland @@ -109312,7 +110448,7 @@ xref: NCIT:C5937 {source="EFO:1000459", source="exact-label-match", source="MOND xref: SCTID:423615009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.73"} xref: UMLS:C1335355 {source="NCIT:C5937", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0003175 {source="MONDO:Entailed", source="NCIT:C5937/inferred", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! salivary gland adenoid cystic carcinoma -is_a: MONDO:0004700 {source="DOID:0050931", source="MONDO:Redundant", source="NCIT:C5937/inferred", source="linkedlifedata"} ! parotid gland cancer +is_a: MONDO:0004700 {source="DOID:0050931", source="MONDO:Redundant", source="NCIT:C5937/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! parotid gland cancer is_a: MONDO:0006284 {source="MONDO:Redundant", source="NCIT:C5937/inferred", source="OWLReasoner:Elk-2018-01-05"} ! major salivary gland carcinoma is_a: MONDO:0021331 {source="MONDO:Entailed", source="NCIT:C5937", source="OWLReasoner:Elk-2018-01-09"} ! carcinoma of parotid gland intersection_of: MONDO:0004971 ! adenoid cystic carcinoma @@ -109332,7 +110468,7 @@ xref: EFO:1000461 {source="MONDO:equivalentTo"} xref: NCIT:C5974 {source="EFO:1000461", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:425127006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1335356 {source="NCIT:C5974", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004700 {source="MONDO:Redundant", source="NCIT:C5974/inferred", source="OWLReasoner:Elk-2018-01-05", source="linkedlife", source="linkedlifedata"} ! parotid gland cancer +is_a: MONDO:0004700 {source="MONDO:Redundant", source="NCIT:C5974/inferred", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata", source="linkedlifedata/inferred"} ! parotid gland cancer is_a: MONDO:0006285 {source="MONDO:Entailed", source="NCIT:C5974"} ! major salivary gland carcinoma ex pleomorphic adenoma is_a: MONDO:0021331 {source="MONDO:Entailed", source="NCIT:C5974", source="OWLReasoner:Elk-2018-01-09"} ! carcinoma of parotid gland intersection_of: MONDO:0002472 ! carcinoma ex pleomorphic adenoma @@ -109373,7 +110509,8 @@ xref: NCIT:C38150 {source="DOID:2643", source="EFO:1000464", source="MONDO:equiv xref: ONCOTREE:PECOMA {source="MONDO:equivalentTo"} xref: SCTID:388601000 {source="DOID:2643"} xref: UMLS:C1300127 {source="DOID:2643", source="NCIT:C38150", source="MONDO:equivalentTo"} -is_a: MONDO:0002604 {source="DOID:2643"} ! pericytic neoplasm +is_a: MONDO:0006424 {source="NCIT:C38150/inferred", source="ONCOTREE:PECOMA"} ! soft tissue neoplasm +relationship: excluded_subClassOf MONDO:0002604 {source="DOID:2643"} ! pericytic neoplasm [Term] id: MONDO:0006360 @@ -109396,8 +110533,8 @@ xref: GARD:0009366 {source="MONDO:equivalentTo"} xref: NCIT:C9061 {source="EFO:1000465", source="DOID:3449", source="MONDO:equivalentTo"} xref: SCTID:372106005 {source="MONDO:kboom-pr-0.97/0.91/1.20", source="DOID:3449", source="MONDO:equivalentTo"} xref: UMLS:C0853105 {source="NCIT:C9061", source="DOID:3449"} -is_a: MONDO:0001325 {source="DOID:3449", source="MONDO:Entailed", source="MONDOLEX:0006360", source="NCIT:C9061", source="linkedlifedata"} ! penile cancer -is_a: MONDO:0004993 {source="EFO:1000465", source="MONDO:Entailed", source="MONDOLEX:0006360", source="NCIT:C9061", source="OWLReasoner:2017", source="linkedlifedata"} ! carcinoma +is_a: MONDO:0001325 {source="DOID:3449", source="MONDO:Entailed", source="MONDOLEX:0006360", source="NCIT:C9061", source="linkedlifedata", source="linkedlifedata/inferred"} ! penile cancer +is_a: MONDO:0004993 {source="DOID:3449", source="EFO:1000465", source="MONDO:Entailed", source="MONDOLEX:0006360", source="NCIT:C9061", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0000989 ! penis @@ -109437,7 +110574,7 @@ xref: UMLS:C0346109 {source="DOID:1788"} xref: UMLS:C0854886 {source="DOID:1788"} xref: UMLS:C1377610 {source="NCIT:C7633"} is_a: MONDO:0005065 {source="EFO:1000467", source="MONDO:Entailed", source="NCIT:C7633", source="OWLReasoner:2017"} ! mesothelioma -is_a: MONDO:0006901 {source="MONDO:Entailed", source="NCIT:C7633"} ! peritoneal neoplasm +is_a: MONDO:0006901 {source="MONDO:Entailed", source="NCIT:C7633", source="linkedlifedata/inferred"} ! peritoneal neoplasm intersection_of: MONDO:0005065 ! mesothelioma intersection_of: disease_has_location UBERON:0002358 ! peritoneum @@ -109616,9 +110753,9 @@ xref: SCTID:254956000 {source="EFO:1000478", source="DOID:3829", source="MONDO:e xref: SCTID:269643009 {source="DOID:3829"} xref: SCTID:367095008 {source="DOID:3829"} xref: UMLS:C0032000 {source="Orphanet:99408", source="NCIT:C3329", source="ORDO:99408/e", source="DOID:3829", source="MONDO:equivalentTo"} -is_a: MONDO:0003381 {source="DOID:3829", source="MONDO:Redundant", source="NCIT:C3329/inferred", source="linkedlifedata"} ! pituitary gland disease +is_a: MONDO:0003381 {source="DOID:3829", source="MONDO:Redundant", source="NCIT:C3329/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! pituitary gland disease is_a: MONDO:0004972 {source="DOID:3829", source="EFO:1000478", source="MONDO:Entailed", source="NCIT:C3329", source="linkedlifedata"} ! adenoma -is_a: MONDO:0017611 {source="NCIT:C3329/inferred", source="Orphanet:99408", source="linkedlife/inferred"} ! pituitary tumor +is_a: MONDO:0017611 {source="NCIT:C3329/inferred", source="Orphanet:99408", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! pituitary tumor intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0000007 ! pituitary gland relationship: disease_has_feature MONDO:0019833 {source="Orphanet:99408"} ! pituitary hormone deficiency from tumoral origin @@ -109638,7 +110775,7 @@ xref: EFO:1000479 {source="MONDO:equivalentTo"} xref: NCIT:C8893 {source="DOID:2024", source="EFO:1000479", source="MONDO:equivalentTo"} xref: SCTID:448401007 {source="DOID:2024", source="MONDO:kboom-pr-1.00/0.79/7.63", source="MONDO:equivalentTo"} xref: UMLS:C0855173 {source="DOID:2024", source="MONDO:equivalentTo", source="NCIT:C8893"} -is_a: MONDO:0002178 {source="MONDO:Entailed", source="NCIT:C8893", source="OWLReasoner:Elk-2018-01-05"} ! placenta cancer +is_a: MONDO:0002178 {source="DOID:2024/inferred", source="MONDO:Entailed", source="NCIT:C8893", source="OWLReasoner:Elk-2018-01-05"} ! placenta cancer is_a: MONDO:0020550 {source="DOID:2024", source="NCIT:C8893"} ! gestational choriocarcinoma intersection_of: MONDO:0005207 ! choriocarcinoma (disease) intersection_of: disease_has_location UBERON:0001987 ! placenta @@ -109667,11 +110804,11 @@ xref: SCTID:2099007 {source="DOID:277"} xref: SCTID:237268002 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:277", source="MONDO:equivalentTo"} xref: SCTID:699948001 {source="DOID:277"} xref: UMLS:C0677608 {source="NCIT:C4868", source="DOID:277", source="MONDO:equivalentTo"} -is_a: MONDO:0002337 {source="DOID:277"} ! intra-abdominal hemangioma -is_a: MONDO:0005917 {source="MONDO:Redundant", source="NCIT:C4868/inferred", source="OWLReasoner:2017", source="linkedlife/inferred"} ! placenta disease +is_a: MONDO:0005917 {source="MONDO:Redundant", source="NCIT:C4868/inferred", source="OWLReasoner:2017", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! placenta disease is_a: MONDO:0021498 {source="MONDO:Entailed", source="NCIT:C4868", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of placenta intersection_of: MONDO:0006500 ! hemangioma intersection_of: disease_has_location UBERON:0001987 ! placenta +relationship: excluded_subClassOf MONDO:0002337 {source="DOID:277"} ! intra-abdominal hemangioma [Term] id: MONDO:0006376 @@ -109695,6 +110832,7 @@ is_a: MONDO:0006109 {source="MONDOLEX:0006377", source="NCIT:C45665"} ! malignan id: MONDO:0006378 name: pleural epithelioid mesothelioma def: "Malignant mesothelioma that arises from the pleura and is characterized by the presence of cells with epithelioid morphology. The epithelioid cells usually have eosinophilic cytoplasm, bland nuclei, and form tubulopapillary, microglandular, or sheet-like patterns." [NCIT:C45662] +synonym: "malignant epithelioid mesothelioma of pleura" EXACT [MONDO:design_pattern] synonym: "pleura malignant epithelioid mesothelioma" EXACT [MONDO:patterns/location] synonym: "pleural epithelioid mesothelioma" EXACT [NCIT:C45662] xref: EFO:1000484 {source="MONDO:equivalentTo"} @@ -109717,6 +110855,7 @@ name: pleural sarcomatoid mesothelioma def: "Malignant mesothelioma that arises from the pleura and is characterized by the presence of spindle-shaped cells forming fascicles, or that are distributed haphazardly resembling a sarcoma." [NCIT:C45663] synonym: "pleura sarcomatoid mesothelioma" EXACT [MONDO:patterns/location] synonym: "pleural sarcomatoid mesothelioma" EXACT [NCIT:C45663] +synonym: "sarcomatoid mesothelioma of pleura" EXACT [MONDO:design_pattern] xref: EFO:1000486 {source="MONDO:equivalentTo"} xref: NCIT:C45663 {source="EFO:1000486", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1709578 {source="NCIT:C45663", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -109871,7 +111010,7 @@ xref: DOID:3252 {source="MONDO:equivalentTo"} xref: EFO:1000498 {source="MONDO:equivalentTo"} xref: NCIT:C5522 {source="EFO:1000498", source="DOID:3252", source="exact-label-match", source="MONDO:equivalentTo"} xref: UMLS:C1335518 {source="DOID:3252", source="NCIT:C5522", source="MONDO:equivalentTo"} -is_a: MONDO:0002854 {source="MONDO:Entailed", source="NCIT:C5522", source="OWLReasoner:2017"} ! prostate sarcoma +is_a: MONDO:0002854 {source="DOID:3252", source="MONDO:Entailed", source="NCIT:C5522", source="OWLReasoner:2017"} ! prostate sarcoma is_a: MONDO:0005212 {source="DOID:3252", source="EFO:1000498", source="MONDO:Entailed", source="NCIT:C5522"} ! rhabdomyosarcoma (disease) intersection_of: MONDO:0005212 ! rhabdomyosarcoma (disease) intersection_of: disease_has_location UBERON:0002367 ! prostate gland @@ -109892,6 +111031,7 @@ synonym: "prostate small cell neuroendocrine carcinoma" EXACT [NCIT:C6766] synonym: "PRSCC" RELATED [ONCOTREE:PRSCC] synonym: "small cell carcinoma of prostate" EXACT [NCIT:C6766] synonym: "small cell carcinoma of prostate (disorder)" EXACT [DOID:7141, SCTID:396198006] +synonym: "small cell carcinoma of prostate gland" EXACT [MONDO:design_pattern] synonym: "small cell carcinoma of the prostate" EXACT [NCIT:C6766] xref: DOID:7141 {source="MONDO:equivalentTo"} xref: EFO:1000499 {source="MONDO:equivalentTo"} @@ -109899,7 +111039,7 @@ xref: NCIT:C6766 {source="EFO:1000499", source="DesignPattern", source="exact-la xref: ONCOTREE:PRSCC {source="MONDO:equivalentTo"} xref: SCTID:396198006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DesignPattern", source="MONDO:equivalentTo", source="DOID:7141"} xref: UMLS:C1300585 {source="NCIT:C6766", source="MONDO:equivalentTo", source="DOID:7141"} -is_a: MONDO:0000402 {source="MONDO:Entailed", source="MONDOLEX:0006390", source="NCIT:C6766", source="linkedlifedata"} ! small cell carcinoma +is_a: MONDO:0000402 {source="DOID:7141/inferred", source="MONDO:Entailed", source="MONDOLEX:0006390", source="NCIT:C6766", source="linkedlifedata"} ! small cell carcinoma is_a: MONDO:0002477 {source="MONDO:Entailed", source="NCIT:C6766"} ! prostate neuroendocrine neoplasm is_a: MONDO:0005159 {source="DOID:7141", source="EFO:1000499", source="MONDO:Entailed", source="MONDOLEX:0006390", source="NCIT:C6766/inferred"} ! prostate carcinoma intersection_of: MONDO:0000402 ! small cell carcinoma @@ -109976,7 +111116,7 @@ xref: NCIT:C5620 {source="exact-label-match", source="EFO:1000505", source="MOND xref: SCTID:448428002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1335691 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5620", source="MONDO:equivalentTo"} is_a: MONDO:0000530 {source="NCIT:C5620", source="linkedlifedata"} ! rectum adenoma -is_a: MONDO:0005484 {source="EFO:1000505", source="MONDO:Redundant", source="NCIT:C5620/inferred", source="linkedlifedata"} ! colorectal adenoma +is_a: MONDO:0005484 {source="EFO:1000505", source="MONDO:Redundant", source="NCIT:C5620/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! colorectal adenoma is_a: MONDO:0024661 {source="NCIT:C5620/inferred"} ! tubulovillous adenoma relationship: disease_has_location UBERON:0001052 ! rectum @@ -109994,7 +111134,7 @@ xref: SCTID:312823001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0730199 {source="NCIT:C4919", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000502 {source="MONDO:Entailed", source="MONDOLEX:0006396", source="NCIT:C4919/inferred", source="OWLReasoner:2017"} ! villous adenoma is_a: MONDO:0000530 {source="MONDO:Entailed", source="NCIT:C4919", source="linkedlifedata"} ! rectum adenoma -is_a: MONDO:0005484 {source="EFO:1000506", source="MONDO:Redundant", source="NCIT:C4919/inferred", source="linkedlifedata"} ! colorectal adenoma +is_a: MONDO:0005484 {source="EFO:1000506", source="MONDO:Redundant", source="NCIT:C4919/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! colorectal adenoma intersection_of: MONDO:0000502 ! villous adenoma intersection_of: disease_has_location UBERON:0001052 ! rectum @@ -110077,6 +111217,7 @@ synonym: "basal cell adenocarcinoma of salivary gland" EXACT [NCIT:C3678] synonym: "basal cell adenocarcinoma of the salivary gland" EXACT [NCIT:C3678] synonym: "saliva-secreting gland skin basal cell carcinoma" EXACT [MONDO:patterns/location] synonym: "salivary gland basal cell adenocarcinoma" EXACT [NCIT:C3678] +synonym: "skin basal cell carcinoma of saliva-secreting gland" EXACT [MONDO:design_pattern] xref: EFO:1000515 {source="MONDO:equivalentTo"} xref: ICDO:8147/3 {source="NCIT:C3678"} xref: NCIT:C3678 {source="EFO:1000515", source="MONDO:equivalentTo"} @@ -110093,6 +111234,8 @@ id: MONDO:0006403 name: salivary gland carcinoma ex pleomorphic adenoma def: "A carcinoma that arises from a pleomorphic adenoma in the salivary glands. It usually originates in the parotid gland. Patients usually present with a history of a long-standing tumor mass which grew rapidly in the past few months. Patients with non-invasive or minimally invasive carcinoma have an excellent prognosis. In cases where there is invasion of the surrounding tissues, the clinical course is aggressive." [NCIT:C40410] comment: Editor note: DO class placed here as it denotes a salivary gland specific form +synonym: "carcinoma ex pleomorphic adenoma" EXACT [DOID:297] +synonym: "carcinoma in pleomorphic adenoma" EXACT [DOID:297] synonym: "pleomorphic adenoma carcinoma" RELATED [DOID:297] synonym: "saliva-secreting gland carcinoma ex pleomorphic adenoma" EXACT [MONDO:patterns/location] synonym: "salivary gland carcinoma ex pleomorphic adenoma" EXACT [NCIT:C40410] @@ -110134,6 +111277,7 @@ synonym: "saliva-secreting gland small cell carcinoma" EXACT [MONDO:patterns/loc synonym: "salivary gland anaplastic small cell carcinoma" EXACT [NCIT:C35703] synonym: "salivary gland neuroendocrine carcinoma" EXACT [NCIT:C35703] synonym: "salivary gland small cell carcinoma" EXACT [NCIT:C35703] +synonym: "small cell carcinoma of saliva-secreting gland" EXACT [MONDO:design_pattern] synonym: "small cell salivary gland carcinoma" EXACT [NCIT:C35703] xref: EFO:1000519 {source="MONDO:equivalentTo"} xref: NCIT:C35703 {source="EFO:1000519", source="exact-label-match", source="MONDO:equivalentTo"} @@ -110161,7 +111305,7 @@ xref: NCIT:C27004 {source="DOID:4015", source="EFO:1000520", source="MONDO:equiv xref: SCTID:23109009 {source="DOID:4015"} xref: SCTID:65692009 {source="DOID:4015"} xref: UMLS:C0205697 {source="NCIT:C27004", source="DOID:4015", source="MONDO:equivalentTo"} -is_a: MONDO:0004993 {source="EFO:1000520", source="MONDOLEX:0006406", source="NCIT:C27004"} ! carcinoma +is_a: MONDO:0004993 {source="DOID:4015/inferred", source="EFO:1000520", source="MONDOLEX:0006406", source="NCIT:C27004"} ! carcinoma relationship: excluded_subClassOf MONDO:0005096 {source="DOID:4015"} ! squamous cell carcinoma [Term] @@ -110210,9 +111354,9 @@ xref: EFO:1000524 {source="MONDO:equivalentTo"} xref: NCIT:C5250 {source="MONDO:kboom-pr-0.93/0.86/0.11", source="DOID:8025", source="EFO:1000524", source="MONDO:equivalentTo"} xref: ONCOTREE:SSRCC {source="MONDO:equivalentTo"} xref: UMLS:C1335965 {source="NCIT:C5250", source="DOID:8025", source="MONDO:equivalentTo"} -is_a: MONDO:0005017 {source="DOID:8025"} ! diffuse gastric adenocarcinoma -is_a: MONDO:0005036 {source="EFO:1000524", source="MONDO:Redundant", source="NCIT:C5250/inferred"} ! gastric adenocarcinoma +is_a: MONDO:0005036 {source="DOID:8025/inferred", source="EFO:1000524", source="MONDO:Redundant", source="NCIT:C5250/inferred"} ! gastric adenocarcinoma is_a: MONDO:0005092 {source="EFO:1000524", source="MONDOLEX:0006409", source="NCIT:C5250"} ! signet ring cell carcinoma +relationship: excluded_subClassOf MONDO:0005017 {source="DOID:8025"} ! diffuse gastric adenocarcinoma [Term] id: MONDO:0006410 @@ -110225,7 +111369,7 @@ xref: NCIT:C35463 {source="EFO:1000525", source="MONDO:kboom-pr-1.00/0.93/31.20" xref: SCTID:198324001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0456483 {source="NCIT:C35463", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0005043 {source="EFO:1000525", source="NCIT:C35463/inferred"} ! hyperplasia -is_a: MONDO:0041161 {source="NCIT:C35463"} ! endometrial hyperplasia +is_a: MONDO:0041161 {source="NCIT:C35463", source="linkedlifedata/inferred"} ! endometrial hyperplasia [Term] id: MONDO:0006411 @@ -110293,6 +111437,7 @@ replaced_by: MONDO:0003198 id: MONDO:0006416 name: small intestinal Burkitt lymphoma def: "A Burkitt lymphoma that arises from the small intestine." [NCIT:C27409] +synonym: "Burkitts lymphoma of small intestine" EXACT [MONDO:design_pattern] synonym: "primary small intestinal Burkitt's lymphoma" EXACT [NCIT:C27409] synonym: "small intestinal Burkitt lymphoma" EXACT [NCIT:C27409] synonym: "small intestinal Burkitt's lymphoma" EXACT [NCIT:C27409] @@ -110312,6 +111457,7 @@ intersection_of: disease_has_location UBERON:0002108 ! small intestine id: MONDO:0006417 name: small intestinal diffuse large B-cell lymphoma def: "A diffuse large B-cell lymphoma that arises from the small intestine." [NCIT:C96055] +synonym: "diffuse large B-cell lymphoma of small intestine" EXACT [MONDO:design_pattern] synonym: "small intestinal diffuse large B-cell lymphoma" EXACT [NCIT:C96055] synonym: "small intestine diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location] xref: EFO:1000534 {source="MONDO:equivalentTo"} @@ -110327,8 +111473,10 @@ relationship: disease_has_location CL:0000945 {source="EFO:0000784"} ! lymphocyt id: MONDO:0006418 name: small intestinal enteropathy-associated T-cell lymphoma def: "An enteropathy-associated T-cell lymphoma arising from the small intestine, most commonly the jejunum or ileum. Patients usually present with abdominal pain, often associated with intestinal perforation. There is often a history of celiac disease. The lymphoma cells are usually medium-sized to large and form an ulcerating mucosal lesion with invasion of the small intestinal wall. Villous atrophy is present in the adjacent small intestinal mucosa. In a minority of cases the lymphoma cells are medium-sized and form a monomorphic infiltrate." [NCIT:P378] +synonym: "enteropathy-associated T-cell lymphoma of small intestine" EXACT [MONDO:design_pattern] synonym: "small intestinal EATL" EXACT [NCIT:C39610] synonym: "small intestinal enteropathy-type T-cell lymphoma" EXACT [NCIT:C39610] +synonym: "small intestine enteropathy-associated T-cell lymphoma" EXACT [MONDO:design_pattern] xref: EFO:1000535 {source="MONDO:equivalentTo"} xref: NCIT:C39610 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="EFO:1000535", source="MONDO:equivalentTo"} xref: UMLS:C1519371 {source="NCIT:C39610", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -110420,10 +111568,10 @@ xref: EFO:1000540 {source="MONDO:equivalentTo"} xref: NCIT:C9482 {source="EFO:1000540", source="MONDO:equivalentTo"} xref: SCTID:404078000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1275277 {source="NCIT:C9482", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000654 {source="DOID:3814"} ! benign connective and soft tissue neoplasm +is_a: MONDO:0000654 {source="DOID:3814", source="NCIT:C9482/inferred"} ! benign connective and soft tissue neoplasm is_a: MONDO:0002360 {source="NCIT:C9482"} ! chondroma -is_a: MONDO:0005070 {source="EFO:1000540", source="MONDO:Redundant", source="NCIT:C9482/inferred", source="linkedlifedata"} ! neoplasm (disease) -is_a: MONDO:0044335 ! benign soft tissue neoplasm +is_a: MONDO:0005070 {source="DOID:3814/inferred", source="EFO:1000540", source="MONDO:Redundant", source="NCIT:C9482/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) +is_a: MONDO:0044335 {source="NCIT:C9482/inferred", source="linkedlifedata"} ! benign soft tissue neoplasm [Term] id: MONDO:0006424 @@ -110445,7 +111593,7 @@ xref: ONCOTREE:SOFTTISSUE {source="MONDO:equivalentTo"} xref: SCTID:387837005 {source="MONDO:equivalentTo"} xref: UMLS:C0037579 {source="NCIT:C3377"} xref: UMLS:C0225317 {source="ONCOTREE:SOFTTISSUE"} -is_a: MONDO:0005070 {source="EFO:1000541", source="NCIT:C3377/inferred"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="EFO:1000541", source="NCIT:C3377/inferred", source="linkedlifedata/inferred"} ! neoplasm (disease) is_a: MONDO:0044334 {source="NCIT:C3377"} ! connective and soft tissue neoplasm [Term] @@ -110473,8 +111621,8 @@ xref: NCIT:C5406 {source="EFO:1000545", source="DOID:6872", source="MONDO:equiva xref: UMLS:C0346298 {source="NCIT:C5406"} xref: UMLS:C1336048 {source="DOID:6872", source="MONDO:equivalentTo"} is_a: MONDO:0000640 {source="DOID:6872", source="NCIT:C5406"} ! central nervous system primitive neuroectodermal neoplasm -is_a: MONDO:0003544 {source="MONDO:Entailed", source="MONDOLEX:0006426", source="NCIT:C5406", source="OWLReasoner:2017"} ! spinal cord cancer -is_a: MONDO:0005462 {source="EFO:1000545"} ! primitive neuroectodermal tumor +is_a: MONDO:0003544 {source="DOID:6872", source="MONDO:Entailed", source="MONDOLEX:0006426", source="NCIT:C5406", source="OWLReasoner:2017"} ! spinal cord cancer +is_a: MONDO:0005462 {source="DOID:6872/inferred", source="EFO:1000545"} ! primitive neuroectodermal tumor relationship: disease_has_location UBERON:0002240 {source="NCIT:C5406"} ! spinal cord [Term] @@ -110562,7 +111710,7 @@ xref: DOID:5191 {source="MONDO:equivalentTo"} xref: EFO:1000551 {source="MONDO:equivalentTo"} xref: NCIT:C9148 {source="DOID:5191", source="EFO:1000551", source="MONDO:kboom-pr-0.93/0.86/0.11", source="MONDO:equivalentTo"} xref: UMLS:C0279610 {source="DOID:5191", source="NCIT:C9148", source="MONDO:equivalentTo"} -is_a: MONDO:0019004 {source="EFO:1000551", source="MONDOLEX:0006432", source="NCIT:C9148"} ! kidney Wilms tumor +is_a: MONDO:0019004 {source="DOID:5191", source="EFO:1000551", source="MONDOLEX:0006432", source="NCIT:C9148"} ! kidney Wilms tumor [Term] id: MONDO:0006433 @@ -110601,7 +111749,7 @@ xref: NCIT:C5935 {source="EFO:1000555", source="exact-label-match", source="MOND xref: SCTID:423189008 {source="MONDO:kboom-pr-0.75/0.37/0.59", source="MONDO:equivalentTo"} xref: UMLS:C1336522 {source="NCIT:C5935", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0003175 {source="MONDO:Entailed", source="NCIT:C5935/inferred", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! salivary gland adenoid cystic carcinoma -is_a: MONDO:0004724 {source="MONDOLEX:0006436", source="NCIT:C5935", source="linkedlifedata"} ! submandibular gland cancer +is_a: MONDO:0004724 {source="MONDOLEX:0006436", source="NCIT:C5935", source="linkedlifedata", source="linkedlifedata/inferred"} ! submandibular gland cancer is_a: MONDO:0004971 {source="EFO:1000555", source="MONDO:Redundant", source="NCIT:C5935/inferred"} ! adenoid cystic carcinoma [Term] @@ -110640,7 +111788,7 @@ comment: This is a place-holder for Orphanet term ORDO_98849 which is not curren xref: EFO:1000559 {source="MONDO:equivalentTo"} xref: NCIT:C9284 {source="EFO:1000559", source="MONDO:relatedTo"} xref: SCTID:397015000 {source="MONDO:kboom-pr-0.76/0.38/0.66", source="MONDO:equivalentTo"} -is_a: MONDO:0005570 {source="EFO:1000559", source="linkedlifedata"} ! hematological system disease +is_a: MONDO:0005570 {source="EFO:1000559", source="EFO:1000559/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! hematological system disease [Term] id: MONDO:0006441 @@ -110712,8 +111860,8 @@ xref: UMLS:C0238448 {source="NCIT:C6341", source="DOID:5680", source="MONDO:equi is_a: MONDO:0002874 {source="NCIT:C6341"} ! testicular pure germ cell tumor is_a: MONDO:0003403 {source="NCIT:C6341"} ! testicular non-seminomatous germ cell cancer is_a: MONDO:0003510 {source="MONDO:Redundant", source="NCIT:C6341/inferred", source="OWLReasoner:Elk-2018-01-05"} ! malignant testicular germ cell tumor -is_a: MONDO:0005440 {source="MONDO:Entailed", source="NCIT:C6341", source="OWLReasoner:Elk-2018"} ! embryonal carcinoma -is_a: MONDO:0005564 {source="EFO:1000565"} ! embryonal neoplasm +is_a: MONDO:0005440 {source="DOID:5680", source="MONDO:Entailed", source="NCIT:C6341", source="OWLReasoner:Elk-2018"} ! embryonal carcinoma +is_a: MONDO:0005564 {source="DOID:5680/inferred", source="EFO:1000565"} ! embryonal neoplasm is_a: MONDO:0010108 {source="MONDO:Redundant", source="NCIT:C6341/inferred", source="OWLReasoner:2017"} ! testicular germ cell tumor intersection_of: MONDO:0005440 ! embryonal carcinoma intersection_of: disease_has_location UBERON:0000473 ! testis @@ -110738,8 +111886,8 @@ xref: OMIM:273300 {source="ORDO:363494/ntbt", source="Orphanet:363494", source=" xref: Orphanet:363494 {source="MONDO:equivalentTo"} xref: UMLS:C1336724 {source="DOID:4086", source="NCIT:C9313", source="MONDO:equivalentTo"} xref: UMLS:CN204702 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005040 {source="EFO:1000570", source="MONDO:Redundant", source="NCIT:C9313/inferred"} ! germ cell tumor -is_a: MONDO:0010108 {source="MONDOLEX:0006447", source="NCIT:C9313", source="Orphanet:363494"} ! testicular germ cell tumor +is_a: MONDO:0005040 {source="DOID:4086/inferred", source="EFO:1000570", source="MONDO:Redundant", source="NCIT:C9313/inferred"} ! germ cell tumor +is_a: MONDO:0010108 {source="DOID:4086", source="MONDOLEX:0006447", source="NCIT:C9313", source="Orphanet:363494"} ! testicular germ cell tumor property_value: confidence "0.10769230769230798" xsd:double [Term] @@ -110815,7 +111963,7 @@ xref: SCTID:444596001 {source="DOID:3284"} xref: UMLS:C0205969 {source="Orphanet:99868", source="NCIT:C7569", source="DOID:3284", source="ORDO:99868/e", source="MONDO:equivalentTo"} xref: UMLS:C1322286 {source="Orphanet:99868", source="DOID:4554", source="MEDGEN:kboom-pr98-c99", source="ORDO:99868/e", source="MONDO:equivalentTo"} xref: UMLS:CN207411 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002586 {source="DOID:3284", source="MONDO:Entailed", source="NCIT:C7569"} ! thymus cancer +is_a: MONDO:0002586 {source="DOID:3284", source="DOID:4554/inferred", source="MONDO:Entailed", source="NCIT:C7569"} ! thymus cancer is_a: MONDO:0004993 {source="EFO:1000576", source="MONDO:Entailed", source="MONDOLEX:0006451"} ! carcinoma is_a: MONDO:0018079 {source="MONDO:Entailed", source="NCIT:C7569", source="ONCOTREE:THYC", source="Orphanet:99868"} ! thymic epithelial neoplasm intersection_of: MONDO:0004993 ! carcinoma @@ -110839,7 +111987,7 @@ xref: EFO:1000577 {source="MONDO:equivalentTo"} xref: NCIT:C6463 {source="DOID:8138", source="EFO:1000577", source="DesignPattern", source="MONDO:equivalentTo"} xref: UMLS:C1335924 {source="DOID:8138", source="MONDO:equivalentTo", source="NCIT:C6463"} is_a: MONDO:0006406 {source="DOID:8138", source="MONDO:Redundant", source="MONDOLEX:0006452", source="NCIT:C6463"} ! sarcomatoid carcinoma -is_a: MONDO:0006451 {source="MONDO:Redundant", source="MONDOLEX:0006452", source="NCIT:C6463"} ! thymic carcinoma +is_a: MONDO:0006451 {source="DOID:8138/inferred", source="MONDO:Redundant", source="MONDOLEX:0006452", source="NCIT:C6463"} ! thymic carcinoma intersection_of: MONDO:0006406 ! sarcomatoid carcinoma intersection_of: disease_has_location UBERON:0002370 ! thymus relationship: excluded_subClassOf MONDO:0003493 {source="DOID:8138"} ! thymus squamous cell carcinoma @@ -110926,7 +112074,7 @@ xref: NCIT:C7997 {source="MONDO:kboom-pr-0.93/0.85/0.11", source="EFO:1000583", xref: SCTID:128715000 {source="DOID:7926"} xref: SCTID:128716004 {source="DOID:7926"} xref: UMLS:C0279705 {source="NCIT:C7997", source="DOID:7926", source="MONDO:equivalentTo"} -is_a: MONDO:0006456 {source="EFO:1000583", source="MONDO:0006458/inferred", source="MONDO:Redundant", source="MONDOLEX:0006458/inferred", source="NCIT:C7997/inferred"} ! thymoma (disease) +is_a: MONDO:0006456 {source="DOID:7926/inferred", source="EFO:1000583", source="MONDO:0006458/inferred", source="MONDO:Redundant", source="MONDOLEX:0006458/inferred", source="NCIT:C7997/inferred"} ! thymoma (disease) is_a: MONDO:0016974 {source="DOID:7926", source="MONDOLEX:0006458", source="NCIT:C7997"} ! thymoma type B [Term] @@ -110946,7 +112094,7 @@ xref: ICDO:8583/1 {source="NCIT:C6887"} xref: NCIT:C6887 {source="EFO:1000584", source="DOID:6917", source="MONDO:kboom-pr-0.94/0.86/0.21", source="MONDO:equivalentTo"} xref: SCTID:128711009 {source="DOID:6917"} xref: UMLS:C1266094 {source="NCIT:C6887", source="DOID:6917", source="MONDO:equivalentTo"} -is_a: MONDO:0006456 {source="EFO:1000584", source="MONDO:0006459/inferred", source="MONDO:Redundant", source="MONDOLEX:0006459/inferred", source="NCIT:C6887/inferred"} ! thymoma (disease) +is_a: MONDO:0006456 {source="DOID:6917/inferred", source="EFO:1000584", source="MONDO:0006459/inferred", source="MONDO:Redundant", source="MONDOLEX:0006459/inferred", source="NCIT:C6887/inferred"} ! thymoma (disease) is_a: MONDO:0016974 {source="DOID:6917", source="MONDOLEX:0006459", source="NCIT:C6887"} ! thymoma type B [Term] @@ -111120,6 +112268,7 @@ intersection_of: disease_has_location UBERON:0002046 ! thyroid gland id: MONDO:0006469 name: tibial adamantinoma def: "An adamantinoma arising from the tibia. The tibia is the site which is more frequently involved by adamantinoma (80-90% of cases)." [NCIT:C8461] +synonym: "adamantinoma of tibia" EXACT [MONDO:design_pattern] synonym: "tibia adamantinoma" EXACT [MONDO:patterns/location] synonym: "tibia long bone adamantinoma" EXACT [MONDO:patterns/location] synonym: "tibial adamantinoma" EXACT [DOID:6322, NCIT:C8461, SCTID:189895006, SCTID:313417009] @@ -111134,7 +112283,7 @@ xref: SCTID:281702006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:632 xref: SCTID:313417009 {source="DOID:6322"} xref: SCTID:56763007 {source="DOID:6322"} xref: UMLS:C1273017 {source="NCIT:C8461", source="DOID:6322", source="MONDO:equivalentTo"} -is_a: MONDO:0002422 {source="DOID:6322", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C8461", source="linkedlifedata"} ! adamantinoma +is_a: MONDO:0002422 {source="DOID:6322", source="DOID:6322/inferred", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C8461", source="linkedlifedata"} ! adamantinoma intersection_of: MONDO:0002422 ! adamantinoma intersection_of: disease_has_location UBERON:0000979 ! tibia @@ -111407,7 +112556,7 @@ xref: NCIT:C42700 {source="DOID:6171", source="EFO:1000613", source="MONDO:equiv xref: ONCOTREE:UCS {source="MONDO:equivalentTo"} xref: SCTID:702369008 {source="DOID:6171", source="MONDO:kboom-pr-0.76/0.48/0.20", source="MONDO:equivalentTo"} xref: UMLS:C0280630 {source="DOID:6171", source="MONDO:equivalentTo", source="NCIT:C42700"} -is_a: MONDO:0002715 {source="MONDO:Entailed", source="NCIT:C42700", source="linkedlifedata"} ! uterine cancer +is_a: MONDO:0002715 {source="DOID:6171/inferred", source="MONDO:Entailed", source="NCIT:C42700", source="linkedlifedata", source="linkedlifedata/inferred"} ! uterine cancer is_a: MONDO:0002928 {source="MONDO:Entailed", source="MONDOLEX:0006485", source="NCIT:C42700/inferred", source="OWLReasoner:Elk-2018"} ! carcinosarcoma intersection_of: MONDO:0002928 ! carcinosarcoma intersection_of: disease_has_location UBERON:0000995 ! uterus @@ -111521,7 +112670,7 @@ xref: ONCOTREE:VSC {source="MONDO:equivalentTo"} xref: SCTID:105121000119102 {source="MONDO:equivalentTo"} xref: UMLS:C0238518 {source="NCIT:C7736", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0001806 {source="MONDO:Entailed", source="NCIT:C7736"} ! vaginal squamous tumor -is_a: MONDO:0005096 {source="EFO:1000620", source="MONDO:Entailed", source="MONDO:Redundant", source="MONDOLEX:0006490", source="NCIT:C7736"} ! squamous cell carcinoma +is_a: MONDO:0005096 {source="EFO:1000620", source="MONDO:Entailed", source="MONDO:Redundant", source="MONDOLEX:0006490", source="NCIT:C7736", source="linkedlifedata"} ! squamous cell carcinoma is_a: MONDO:0015867 {source="MONDO:Entailed", source="MONDOLEX:0006490", source="NCIT:C7736", source="OWLReasoner:2017"} ! vaginal carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0000996 ! vagina @@ -111530,6 +112679,8 @@ intersection_of: disease_has_location UBERON:0000996 ! vagina id: MONDO:0006491 name: vulvar lichen sclerosus def: "A chronic inflammatory disorder of unknown etiology that affects the vulva. It is characterized by the development of white elevated plaques in the vulva. Histologically there is marked subepithelial fibrosis. Clinical manifestations include pruritus, dysuria, and dyspareunia." [NCIT:C27723] +synonym: "lichen sclerosus et atrophicus of mammalian vulva" EXACT [MONDO:design_pattern] +synonym: "mammalian vulva lichen sclerosus et atrophicus" EXACT [MONDO:design_pattern] synonym: "vulvar lichen Sclerosus" EXACT [NCIT:C27723] xref: EFO:1000623 {source="MONDO:equivalentTo"} xref: MESH:D007724 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -111565,7 +112716,7 @@ xref: NCIT:C2854 {source="exact-label-match", source="EFO:1000625", source="MOND xref: SCTID:422470007 {source="MONDO:equivalentTo"} xref: UMLS:C0001429 {source="NCIT:C2854", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0004972 {source="EFO:1000625", source="MONDO:Redundant", source="NCIT:C2854"} ! adenoma -is_a: MONDO:0021460 {source="NCIT:C2854"} ! benign neoplasm of salivary gland +is_a: MONDO:0021460 {source="NCIT:C2854", source="linkedlifedata"} ! benign neoplasm of salivary gland is_a: MONDO:0036976 {source="NCIT:C2854"} ! benign epithelial neoplasm property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8569/warthin-tumor xsd:anyURI {source="GARD:0008569"} @@ -111635,7 +112786,7 @@ xref: NCIT:C96479 {source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:428054006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"} xref: UMLS:C1868071 {source="NCIT:C96479"} is_a: MONDO:0000527 {source="NCIT:C96479"} ! colon adenoma -is_a: MONDO:0005079 {source="EFO:1000633", source="MONDO:Redundant", source="NCIT:C96479/inferred", source="linkedlifedata"} ! polyp +is_a: MONDO:0005079 {source="EFO:1000633", source="MONDO:Redundant", source="NCIT:C96479/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp is_a: MONDO:0005401 {source="MONDO:Redundant", source="NCIT:C96479/inferred", source="OWLReasoner:2017"} ! colonic neoplasm is_a: MONDO:0021400 {source="MONDO:Entailed", source="NCIT:C96479", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! polyp of colon relationship: disease_has_location UBERON:0001155 {source="EFO:0000784"} ! colon @@ -111691,7 +112842,7 @@ xref: SCTID:367337005 {source="DOID:255"} xref: SCTID:400210000 {source="MONDO:kboom-pr-1.00/0.85/8.02", source="DOID:255", source="MONDO:equivalentTo"} xref: SCTID:93474003 {source="DOID:255"} xref: UMLS:C0018916 {source="DOID:255", source="NCIT:C3085", source="MONDO:equivalentTo"} -is_a: MONDO:0005165 {source="DOID:255", source="MONDO:Redundant"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:255", source="DOID:255/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: MONDO:0019063 {source="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4211219"} ! vascular anomaly is_a: MONDO:0024286 {source="MONDO:Entailed", source="NCIT:C3085"} ! benign blood vessel neoplasm relationship: disease_arises_from_structure CL:0000071 ! blood vessel endothelial cell @@ -111746,7 +112897,7 @@ xref: SCTID:67782005 {source="MONDO:kboom-pr-0.96/0.83/1.68", source="DOID:11394 xref: UMLS:C0035222 {source="DOID:11394", source="NCIT:C3353", source="MONDO:equivalentTo"} is_a: MONDO:0001208 {source="DOID:11394"} ! acute respiratory failure is_a: MONDO:0002254 {source="MONDOLEX:0006502", source="NCIT:C3353"} ! syndromic disease -is_a: MONDO:0005087 {source="EFO:1000637", source="linkedlifedata"} ! respiratory system disease +is_a: MONDO:0005087 {source="DOID:11394/inferred", source="EFO:1000637", source="MESH:D012128/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system disease is_a: MONDO:0017027 {source="Orphanet:70578"} ! primary interstitial lung disease specific to adulthood relationship: disease_has_feature HP:0002093 ! Respiratory insufficiency @@ -111771,6 +112922,7 @@ intersection_of: has_modifier MONDO:0021141 ! acquired id: MONDO:0006505 name: basal ganglia cerebrovascular disease def: "A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis)." [MESH:D020144] +synonym: "cerebrovascular disorder of collection of basal ganglia" EXACT [MONDO:design_pattern] synonym: "collection of basal ganglia cerebrovascular disorder" EXACT [MONDO:patterns/location] xref: DOID:10991 {source="EFO:1000640", source="MONDO:equivalentTo"} xref: EFO:1000640 {source="MONDO:equivalentTo"} @@ -111866,6 +113018,7 @@ synonym: "disorder of renal absorption" RELATED [MONDO:patterns/basis_in_disrupt synonym: "inborn renal tubular transport disorder" EXACT [CSP2005:1849-8301, DOID:447] synonym: "kidney tubular Transport, inborn error" RELATED [MESH:D015499] synonym: "kidney tubular Transport, inborn errors" RELATED [MESH:D015499] +synonym: "renal absorption disease" EXACT [MONDO:design_pattern] synonym: "renal tubular Transport errors" RELATED [MESH:D015499] synonym: "renal tubular Transport, inborn error" RELATED [MESH:D015499] xref: DOID:447 {source="EFO:1000647", source="MONDO:equivalentTo"} @@ -111941,7 +113094,7 @@ xref: SCTID:7881005 {source="MONDO:kboom-pr-0.88/0.76/0.10", source="MONDO:equiv xref: UMLS:C0001339 {source="NCIT:C95437", source="MONDO:equivalentTo", source="DOID:2913"} xref: UMLS:C0267941 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} xref: Wikipedia:Acute_pancreatitis {source="EFO:1000652"} -is_a: MONDO:0004982 {source="DOID:2913", source="EFO:1000652", source="MESH:D019283", source="MONDO:Entailed", source="NCIT:C95437", source="linkedlifedata"} ! pancreatitis +is_a: MONDO:0004982 {source="DOID:2913", source="EFO:1000652", source="MESH:D019283", source="MONDO:Entailed", source="NCIT:C95437", source="linkedlifedata", source="linkedlifedata/inferred"} ! pancreatitis intersection_of: MONDO:0004982 ! pancreatitis intersection_of: has_modifier PATO:0000389 ! acute @@ -112019,7 +113172,7 @@ xref: SCTID:93984006 {source="DOID:1993"} xref: UMLS:C0007113 {source="DOID:1993"} xref: UMLS:C0949022 {source="NCIT:C7418", source="DOID:1993"} is_a: MONDO:0002165 {source="MONDO:Entailed", source="NCIT:C7418", source="linkedlifedata"} ! rectal neoplasm -is_a: MONDO:0005575 {source="DOID:1993", source="EFO:1000657", source="MONDO:Entailed", source="NCIT:C7418", source="linkedlifedata"} ! colorectal cancer +is_a: MONDO:0005575 {source="DOID:1993", source="DOID:1993/inferred", source="EFO:1000657", source="MONDO:Entailed", source="NCIT:C7418", source="linkedlifedata"} ! colorectal cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001052 ! rectum relationship: disease_has_location UBERON:0001052 {source="EFO:0000784"} ! rectum @@ -112038,7 +113191,7 @@ xref: PMID:22915534 {source="EFO:1000661"} xref: SCTID:238824006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:6687", source="MONDO:equivalentTo"} xref: UMLS:C0473563 {source="DOID:6687", source="NCIT:C35467"} is_a: MONDO:0002254 {source="MONDOLEX:0006520", source="NCIT:C35467"} ! syndromic disease -is_a: MONDO:0005093 {source="DOID:6687", source="EFO:1000661", source="linkedlifedata"} ! skin disease +is_a: MONDO:0005093 {source="DOID:6687", source="EFO:1000661", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease [Term] id: MONDO:0006521 @@ -112075,7 +113228,7 @@ xref: SCTID:20637002 {source="DOID:13072"} xref: SCTID:267805003 {source="DOID:13072"} xref: SCTID:400166009 {source="DOID:13072", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0022581 {source="DOID:13072"} -is_a: MONDO:0006566 {source="DOID:13072", source="EFO:1000663", source="MONDO:Entailed"} ! keratosis +is_a: MONDO:0006566 {source="DOID:13072", source="EFO:1000663", source="MONDO:Entailed", source="NCIT:C34746"} ! keratosis intersection_of: MONDO:0006566 ! keratosis intersection_of: has_modifier MONDO:0021141 ! acquired @@ -112153,7 +113306,7 @@ xref: SCTID:201260002 {source="DOID:10612"} xref: SCTID:40178009 {source="DOID:10612", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0149526 {source="DOID:10612", source="MONDO:equivalentTo"} xref: Wikipedia:Urticaria#Allergic_urticaria {source="EFO:1000669"} -is_a: MONDO:0005492 {source="DOID:10612", source="EFO:1000669", source="MONDO:Entailed", source="linkedlife", source="linkedlifedata"} ! urticaria (disease) +is_a: MONDO:0005492 {source="DOID:10612", source="EFO:1000669", source="ICD10:L50.0", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! urticaria (disease) intersection_of: MONDO:0005492 ! urticaria (disease) intersection_of: disease_has_basis_in_disruption_of GO:0016068 ! type I hypersensitivity @@ -112176,7 +113329,7 @@ xref: SCTID:156414006 {source="DOID:11156"} xref: SCTID:201189007 {source="DOID:11156"} xref: SCTID:39659002 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11156", source="MONDO:equivalentTo"} xref: UMLS:C0003028 {source="DOID:11156"} -is_a: MONDO:0006615 {source="DOID:11156", source="EFO:1000670", source="linkedlife"} ! sweat gland disease +is_a: MONDO:0006615 {source="DOID:11156", source="EFO:1000670", source="linkedlifedata"} ! sweat gland disease relationship: disease_has_major_feature HP:0000970 ! Anhidrosis [Term] @@ -112248,7 +113401,7 @@ xref: ICD10:H60.40 {source="DOID:9462"} xref: ICD9:380.21 {source="i2s", source="DOID:9462", source="MONDO:equivalentTo"} xref: SCTID:35247001 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:9462", source="MONDO:equivalentTo"} xref: UMLS:C0155398 {source="DOID:9462", source="MONDO:equivalentTo"} -is_a: MONDO:0002776 {source="DOID:9462", source="ICD10:H60.4/inferred", source="MONDO:Entailed"} ! external ear disease +is_a: MONDO:0002776 {source="DOID:9462", source="ICD10:H60.4/inferred", source="MONDO:Entailed", source="linkedlifedata"} ! external ear disease is_a: MONDO:0006530 {source="DOID:9462", source="EFO:1000677", source="MONDO:Entailed", source="linkedlifedata"} ! cholesteatoma (disease) intersection_of: MONDO:0006530 ! cholesteatoma (disease) intersection_of: disease_has_location UBERON:0001691 ! external ear @@ -112257,6 +113410,7 @@ intersection_of: disease_has_location UBERON:0001691 ! external ear id: MONDO:0006533 name: cholesteatoma of middle ear def: "A non-neoplastic lesion characterized by the proliferation of keratinizing squamous epithelium in the middle ear that results in the accumulation of keratin and cells. It is usually caused by repeated infections. If left untreated, it may increase in size and destroy the adjacent delicate bones of the middle ear." [NCIT:P378] +synonym: "cholesteatoma" EXACT [DOID:10964] synonym: "cholesteatoma of middle ear" EXACT [DOID:10964, ICD9CM_2006:385.32] synonym: "cholesteatoma of middle ear (disorder)" EXACT [DOID:10964, SCTID:87688009] synonym: "cholesteatoma of middle ear and mastoid" EXACT [DOID:10964, ICD9CM_2006:385.33] @@ -112283,8 +113437,8 @@ xref: SCTID:39911004 {source="DOID:10964"} xref: SCTID:87688009 {source="DOID:10964"} xref: UMLS:C0008374 {source="DOID:10964"} xref: UMLS:C0155490 {source="DOID:10964", source="NCIT:C3654", source="MONDO:equivalentTo"} -is_a: MONDO:0003276 {source="DOID:10964", source="MONDO:Entailed", source="NCIT:C3654", source="linkedlife/inferred"} ! middle ear disease -is_a: MONDO:0006530 {source="DOID:10964", source="EFO:1000678", source="MESH:D018424", source="MONDO:Entailed", source="NCIT:C3654", source="linkedlifedata"} ! cholesteatoma (disease) +is_a: MONDO:0003276 {source="DOID:10964", source="MONDO:Entailed", source="NCIT:C3654", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! middle ear disease +is_a: MONDO:0006530 {source="DOID:10964", source="EFO:1000678", source="MESH:D018424", source="MONDO:Entailed", source="NCIT:C3654", source="linkedlifedata", source="linkedlifedata/inferred"} ! cholesteatoma (disease) intersection_of: MONDO:0006530 ! cholesteatoma (disease) intersection_of: disease_has_location UBERON:0001756 ! middle ear @@ -112321,7 +113475,7 @@ xref: EFO:1000681 {source="MONDO:equivalentTo"} xref: HP:0009059 {source="MONDO:otherHierarchy", source="ontobio"} xref: OMIMPS:608594 {source="DOID:0050585", source="MONDO:equivalentTo"} xref: SCTID:284449005 {source="MONDO:kboom-pr-0.72/0.42/0.09", source="MONDO:equivalentTo"} -is_a: MONDO:0006573 {source="DOID:0050585", source="EFO:1000681", source="linkedlifedata"} ! lipodystrophy (disease) +is_a: MONDO:0006573 {source="DOID:0050585", source="DOID:0050585/inferred", source="EFO:1000681", source="linkedlifedata"} ! lipodystrophy (disease) intersection_of: MONDO:0027766 ! generalized lipodystrophy intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -112339,7 +113493,7 @@ xref: SCTID:267645009 {source="DOID:12304"} xref: SCTID:66081003 {source="DOID:12304", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0155163 {source="DOID:12304", source="MONDO:equivalentTo"} is_a: MONDO:0001331 {source="DOID:12304", source="linkedlifedata"} ! conjunctival deposit -is_a: MONDO:0006600 {source="DOID:12304", source="EFO:1000682"} ! pigmentation disease +is_a: MONDO:0006600 {source="DOID:12304", source="EFO:1000682", source="linkedlifedata"} ! pigmentation disease [Term] id: MONDO:0006538 @@ -112454,7 +113608,7 @@ xref: SCTID:154344005 {source="DOID:8743"} xref: SCTID:266193008 {source="DOID:8743"} xref: SCTID:34730008 {source="MONDO:kboom-pr-1.00/0.91/27.08", source="DOID:8743", source="MONDO:equivalentTo"} xref: UMLS:C0085273 {source="NCIT:C84695", source="DOID:8743", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="MESH:D016731/inferred", source="NCIT:C84695", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="MESH:D016731/inferred", source="NCIT:C84695", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease is_a: MONDO:0006619 {source="DOID:8743", source="EFO:1000693"} ! viral exanthem relationship: realized_in_response_to_stimulus NCBITaxon:1511900 {source="Wikidata"} ! Primate erythroparvovirus 1 @@ -112480,7 +113634,7 @@ xref: MESH:D004892 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C3024 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} xref: SCTID:36715001 {source="MONDO:kboom-pr-0.86/0.67/0.40", source="MONDO:equivalentTo"} xref: UMLS:C0014742 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3024", source="MONDO:equivalentTo"} -is_a: MONDO:0005093 {source="DOID:0050185", source="EFO:1000694", source="MESH:D004892/inferred", source="NCIT:C3024/inferred", source="linkedlifedata"} ! skin disease +is_a: MONDO:0005093 {source="DOID:0050185", source="EFO:1000694", source="MESH:D004892/inferred", source="NCIT:C3024/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6372/erythema-multiforme xsd:anyURI {source="GARD:0006372"} [Term] @@ -112501,7 +113655,7 @@ xref: SCTID:200762004 {source="DOID:9097"} xref: SCTID:200768000 {source="DOID:9097"} xref: SCTID:54792008 {source="DOID:9097", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0014747 {source="DOID:9097", source="NCIT:C34591", source="MONDO:equivalentTo"} -is_a: MONDO:0005093 {source="DOID:9097", source="EFO:1000695", source="NCIT:C34591/inferred", source="linkedlifedata"} ! skin disease +is_a: MONDO:0005093 {source="DOID:9097", source="EFO:1000695", source="NCIT:C34591/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease [Term] id: MONDO:0006547 @@ -112531,7 +113685,7 @@ xref: SCTID:267183006 {source="DOID:0050486"} xref: SCTID:271807003 {source="MONDO:kboom-pr-0.99/0.73/4.98", source="DOID:0050486", source="MONDO:equivalentTo"} xref: UMLS:C0015230 {source="DOID:0050486"} xref: Wikipedia:Exanthem {source="EFO:1000697"} -is_a: MONDO:0005093 {source="DOID:0050486", source="EFO:1000697", source="MESH:D005076", source="linkedlifedata"} ! skin disease +is_a: MONDO:0005093 {source="DOID:0050486", source="EFO:1000697", source="MESH:D005076", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease relationship: disease_has_feature HP:0000988 {source="Wikidata"} ! Skin rash relationship: disease_has_feature MONDO:0006547 {source="Wikidata"} ! exanthem (disease) @@ -112556,15 +113710,16 @@ synonym: "anus skin tag" EXACT [MONDO:patterns/location] synonym: "fibroepithelial polyp of anus" EXACT [DOID:8170, NCIT:C5604] synonym: "fibrous polyp of anus" EXACT [NCIT:C4435] synonym: "fibrous polyp of the anus" EXACT [NCIT:C4435] +synonym: "skin tag of anus" EXACT [MONDO:design_pattern] xref: DOID:8170 {source="EFO:1000699", source="MONDO:equivalentTo"} xref: EFO:1000699 {source="MONDO:equivalentTo"} xref: NCIT:C4435 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: NCIT:C5604 {source="DOID:8170", source="MONDO:otherHierarchy"} xref: SCTID:195469007 {source="MONDO:equivalentTo"} xref: UMLS:C0345903 {source="NCIT:C4435"} -is_a: MONDO:0002519 {source="DOID:8170", source="MONDO:Redundant", source="NCIT:C4435/inferred"} ! anus disease -is_a: MONDO:0004026 {source="DOID:8170", source="MONDO:Entailed"} ! skin tag -is_a: MONDO:0005079 {source="EFO:1000699", source="MONDO:Redundant", source="NCIT:C4435/inferred"} ! polyp +is_a: MONDO:0002519 {source="DOID:8170", source="MONDO:Redundant", source="NCIT:C4435/inferred", source="linkedlifedata/inferred"} ! anus disease +is_a: MONDO:0004026 {source="DOID:8170", source="MONDO:Entailed", source="linkedlifedata"} ! skin tag +is_a: MONDO:0005079 {source="EFO:1000699", source="MONDO:Redundant", source="NCIT:C4435/inferred", source="linkedlifedata/inferred"} ! polyp intersection_of: MONDO:0004026 ! skin tag intersection_of: disease_has_location UBERON:0001245 ! anus @@ -112573,6 +113728,7 @@ id: MONDO:0006550 name: fibroepithelial polyp of urethra def: "A benign polypoid lesion of mesodermal origin that arises from the urethra." [NCIT:P378] synonym: "fibroepithelial polyp of the urethra" EXACT [NCIT:C6170] +synonym: "skin tag of urethra" EXACT [MONDO:design_pattern] synonym: "urethra fibroepithelial polyp" EXACT [NCIT:C6170] synonym: "urethra skin tag" EXACT [MONDO:patterns/location] synonym: "urethral fibroepithelial polyp" EXACT [DOID:8108, NCIT:C6170] @@ -112593,6 +113749,7 @@ def: "A rare dermatologic disorder characterized by the accumulation of mucinous synonym: "alopecia Mucinosa" EXACT [NCIT:C82859] synonym: "alopecia mucinosa" EXACT [DOID:9905, SCTID:27382006] synonym: "alopecia mucinosis" EXACT [NCIT:C82859] +synonym: "cutaneous focal mucinosis of hair follicle" EXACT [MONDO:design_pattern] synonym: "follicular mucinosis" EXACT [DOID:9905] synonym: "hair follicle cutaneous focal mucinosis" EXACT [MONDO:patterns/location] xref: DOID:9905 {source="EFO:1000701", source="MONDO:equivalentTo"} @@ -112605,7 +113762,7 @@ xref: PMID:24350019 {source="EFO:1000701"} xref: SCTID:201150001 {source="DOID:9905"} xref: SCTID:27382006 {source="DOID:9905", source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0002173 {source="DOID:9905", source="MONDO:equivalentTo", source="NCIT:C82859"} -is_a: MONDO:0004907 {source="MESH:D000507", source="SCTID:27382006", source="linkedlifedata"} ! alopecia +is_a: MONDO:0004907 {source="MESH:D000507", source="linkedlifedata"} ! alopecia is_a: MONDO:0006607 {source="DOID:9905", source="EFO:1000701", source="MESH:D000507", source="MONDO:Redundant"} ! sebaceous gland disease intersection_of: MONDO:0021653 ! cutaneous focal mucinosis intersection_of: disease_has_location UBERON:0002073 ! hair follicle @@ -112614,6 +113771,7 @@ intersection_of: disease_has_location UBERON:0002073 ! hair follicle id: MONDO:0006552 name: folliculitis def: "Inflammation of the hair follicles. Causes include excessive perspiration, skin infections, and skin wounds." [NCIT:P378] +synonym: "dermatitis of hair follicle" EXACT [MONDO:design_pattern] synonym: "hair follicle dermatitis" EXACT [MONDO:patterns/location] xref: DOID:4409 {source="EFO:1000702", source="MONDO:equivalentTo"} xref: EFO:1000702 {source="MONDO:equivalentTo"} @@ -112652,7 +113810,7 @@ xref: SCTID:254682006 {source="DOID:1381"} xref: SCTID:65038009 {source="MONDO:kboom-pr-1.00/0.80/9.20", source="DOID:1381", source="MONDO:equivalentTo"} xref: UMLS:C0016632 {source="NCIT:C84716", source="DOID:1381", source="MONDO:equivalentTo"} xref: Wikipedia:Fox-Fordyce_disease {source="EFO:1000703"} -is_a: MONDO:0006615 {source="DOID:1381", source="EFO:1000703", source="MESH:D005588/inferred", source="linkedlife/inferred"} ! sweat gland disease +is_a: MONDO:0006615 {source="DOID:1381", source="EFO:1000703", source="MESH:D005588/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! sweat gland disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6462/fox-fordyce-disease xsd:anyURI {source="GARD:0006462"} [Term] @@ -112707,6 +113865,7 @@ synonym: "angioma of subcutaneous tissue" EXACT [NCIT:C8540] synonym: "angioma of the subcutaneous tissue" EXACT [DOID:13081, NCIT:C8540] synonym: "hemangioma of subcutaneous tissue" EXACT [NCIT:C8540] synonym: "hemangioma of subcutaneous tissue (disorder)" EXACT [DOID:13081, SCTID:93473009] +synonym: "hemangioma of superficial fascia" EXACT [MONDO:design_pattern] synonym: "hemangioma of the subcutaneous tissue" EXACT [NCIT:C8540] synonym: "subcutaneous angioma" EXACT [NCIT:C8540] synonym: "subcutaneous haemangioma" EXACT [DOID:13081, SCTID:189195009] @@ -112723,7 +113882,7 @@ xref: SCTID:254823000 {source="DOID:13081"} xref: SCTID:93473009 {source="DOID:13081", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0685200 {source="DOID:13081", source="MONDO:equivalentTo", source="NCIT:C8540"} is_a: MONDO:0000652 {source="DOID:13081", source="MONDO:Redundant"} ! integumentary system benign neoplasm -is_a: MONDO:0006500 {source="DOID:13081", source="EFO:1000707", source="MONDO:Redundant", source="NCIT:C8540", source="linkedlife", source="linkedlifedata"} ! hemangioma +is_a: MONDO:0006500 {source="DOID:13081", source="EFO:1000707", source="MONDO:Redundant", source="NCIT:C8540", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemangioma is_a: MONDO:0019293 {source="OWLReasoner:Elk-2018-01-05"} ! skin vascular disease intersection_of: MONDO:0006500 ! hemangioma intersection_of: disease_has_location UBERON:0011818 ! superficial fascia @@ -112808,7 +113967,7 @@ xref: SCTID:201189007 {source="DOID:11155"} xref: SCTID:45004005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11155", source="MONDO:equivalentTo"} xref: UMLS:C0020620 {source="DOID:11155", source="MONDO:equivalentTo"} xref: Wikipedia:Hypodidrosis {source="EFO:1000712"} -is_a: MONDO:0006615 {source="DOID:11155", source="EFO:1000712", source="MESH:D007007", source="linkedlife"} ! sweat gland disease +is_a: MONDO:0006615 {source="DOID:11155", source="EFO:1000712", source="MESH:D007007", source="linkedlifedata"} ! sweat gland disease [Term] id: MONDO:0006561 @@ -112822,8 +113981,8 @@ xref: ICD9:374.53 {source="DOID:11668", source="i2s", source="MONDO:equivalentTo xref: SCTID:193958004 {source="DOID:11668"} xref: SCTID:68210006 {source="DOID:11668", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155212 {source="DOID:11668", source="MONDO:equivalentTo"} -is_a: MONDO:0003382 {source="linkedlife"} ! eyelid disease -is_a: MONDO:0006600 {source="DOID:11668", source="EFO:1000713", source="linkedlife"} ! pigmentation disease +is_a: MONDO:0003382 {source="DOID:11668/inferred", source="linkedlifedata"} ! eyelid disease +is_a: MONDO:0006600 {source="DOID:11668", source="EFO:1000713", source="linkedlifedata"} ! pigmentation disease relationship: excluded_subClassOf MONDO:0000941 {source="DOID:11668"} ! eyelid degenerative disease [Term] @@ -112916,7 +114075,7 @@ xref: NCIT:C34745 {source="MONDO:equivalentTo"} xref: NCIT:C34747 {source="DOID:161", source="MONDO:otherHierarchy"} xref: SCTID:254666005 {source="DOID:161", source="MONDO:kboom-pr-1.00/0.84/13.53", source="MONDO:equivalentTo"} xref: UMLS:C0022593 {source="DOID:161", source="MONDO:equivalentTo"} -is_a: MONDO:0005093 {source="DOID:161", source="EFO:1000720", source="MESH:D007642", source="linkedlifedata"} ! skin disease +is_a: MONDO:0005093 {source="DOID:161", source="EFO:1000720", source="MESH:D007642", source="NCIT:C34745/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease relationship: disease_disrupts GO:0031424 ! keratinization relationship: disease_has_location UBERON:0002027 ! stratum corneum of epidermis @@ -112978,7 +114137,7 @@ xref: SCTID:200998004 {source="DOID:8574"} xref: SCTID:201010002 {source="DOID:8574"} xref: SCTID:88996004 {source="DOID:8574", source="MONDO:equivalentTo"} xref: UMLS:C0023643 {source="DOID:8574", source="MONDO:equivalentTo"} -is_a: MONDO:0005093 {source="DOID:8574", source="EFO:1000724", source="linkedlifedata"} ! skin disease +is_a: MONDO:0005093 {source="DOID:8574", source="EFO:1000724", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease [Term] id: MONDO:0006571 @@ -113087,8 +114246,8 @@ xref: SCTID:54572003 {source="DOID:4558"} xref: UMLS:C0024081 {source="DOID:4558", source="MONDO:equivalentTo"} xref: UMLS:C3247204 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: Wikipedia:Ludwig's_angina {source="EFO:1000730"} -is_a: MONDO:0005230 {source="DOID:4558", source="EFO:1000730", source="MONDO:Entailed", source="linkedlifedata"} ! cellulitis (disease) -is_a: MONDO:0006858 {source="MESH:D008158", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! mouth disease +is_a: MONDO:0005230 {source="DOID:4558", source="EFO:1000730", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! cellulitis (disease) +is_a: MONDO:0006858 {source="MESH:D008158", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease intersection_of: MONDO:0005230 ! cellulitis (disease) intersection_of: disease_has_location UBERON:0003679 ! mouth floor @@ -113147,7 +114306,7 @@ xref: SCTID:63951004 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:1382 xref: UMLS:C0026113 {source="NCIT:C34820", source="DOID:1382", source="MONDO:equivalentTo"} xref: Wikipedia:Miliaria {source="EFO:1000734"} is_a: MONDO:0002254 {source="NCIT:C34820"} ! syndromic disease -is_a: MONDO:0006615 {source="DOID:1382", source="EFO:1000734", source="MESH:D008883", source="linkedlife"} ! sweat gland disease +is_a: MONDO:0006615 {source="DOID:1382", source="EFO:1000734", source="MESH:D008883", source="linkedlifedata"} ! sweat gland disease [Term] id: MONDO:0006581 @@ -113189,7 +114348,7 @@ xref: SCTID:268355000 {source="DOID:4702"} xref: SCTID:40467008 {source="DOID:4702", source="MONDO:kboom-pr-1.00/0.79/8.41", source="MONDO:equivalentTo"} xref: UMLS:C0265985 {source="DOID:4702", source="NCIT:C3945", source="MONDO:equivalentTo"} xref: Wikipedia:Mongolian_spot {source="EFO:1000736"} -is_a: MONDO:0005093 {source="DOID:4702", source="EFO:1000736", source="NCIT:C3945/inferred", source="linkedlifedata"} ! skin disease +is_a: MONDO:0005093 {source="DOID:4702", source="EFO:1000736", source="NCIT:C3945/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease relationship: disease_causes_dysfunction_of CL:0000148 ! melanocyte [Term] @@ -113237,7 +114396,7 @@ xref: SCTID:30235009 {source="DOID:2383"} xref: SCTID:31482007 {source="DOID:2383"} xref: SCTID:387712008 {source="MONDO:kboom-pr-0.88/0.75/0.10", source="DOID:2383", source="MONDO:equivalentTo"} xref: UMLS:C0022353 {source="DOID:2383", source="MONDO:equivalentTo"} -is_a: MONDO:0006600 {source="DOID:2383", source="EFO:1000739"} ! pigmentation disease +is_a: MONDO:0006600 {source="DOID:2383", source="EFO:1000739", source="linkedlifedata"} ! pigmentation disease [Term] id: MONDO:0006585 @@ -113252,7 +114411,7 @@ xref: SCTID:156383005 {source="DOID:3309"} xref: SCTID:267854005 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo", source="DOID:3309"} xref: UMLS:C0027822 {source="NCIT:C111963", source="MONDO:equivalentTo", source="DOID:3309"} xref: UMLS:C0149922 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} -is_a: MONDO:0002406 {source="DOID:3309", source="MESH:D009450", source="NCIT:C111963", source="linkedlifedata"} ! dermatitis +is_a: MONDO:0002406 {source="DOID:3309", source="MESH:D009450", source="NCIT:C111963", source="linkedlifedata", source="linkedlifedata/inferred"} ! dermatitis [Term] id: MONDO:0006586 @@ -113343,7 +114502,7 @@ xref: SCTID:267842005 {source="DOID:4404"} xref: SCTID:402587003 {source="MONDO:kboom-pr-0.96/0.84/1.71", source="DOID:4404", source="MONDO:equivalentTo"} xref: SCTID:83252008 {source="DOID:4404"} xref: UMLS:C0028796 {source="DOID:4404", source="NCIT:C34859", source="MONDO:equivalentTo"} -is_a: MONDO:0002406 {source="MESH:D009783/inferred", source="MONDO:Redundant", source="NCIT:C34859"} ! dermatitis +is_a: MONDO:0002406 {source="DOID:4404/inferred", source="MESH:D009783/inferred", source="MONDO:Redundant", source="NCIT:C34859"} ! dermatitis is_a: MONDO:0005480 {source="DOID:4404", source="EFO:1000744", source="MESH:D009783", source="MONDOLEX:0006589"} ! contact dermatitis [Term] @@ -113364,7 +114523,7 @@ xref: SCTID:205584004 {source="DOID:3390"} xref: SCTID:28596004 {source="DOID:3390"} xref: SCTID:706885006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3390", source="MONDO:equivalentTo"} xref: UMLS:C0022596 {source="DOID:3390"} -is_a: MONDO:0006566 {source="DOID:3390", source="EFO:1000745"} ! keratosis +is_a: MONDO:0006566 {source="DOID:3390", source="EFO:1000745", source="NCIT:C34748"} ! keratosis [Term] id: MONDO:0006591 @@ -113391,10 +114550,10 @@ xref: SCTID:268012006 {source="DOID:1526"} xref: SCTID:268122002 {source="DOID:1526"} xref: UMLS:C0030326 {source="DOID:1526", source="MONDO:equivalentTo"} xref: Wikipedia:Panniculitis {source="EFO:1000746"} -is_a: MONDO:0003900 {source="MESH:D015434", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! connective tissue disease -is_a: MONDO:0005546 {source="DOID:1526"} ! fibromyalgia +is_a: MONDO:0003900 {source="MESH:D015434", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! connective tissue disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0002190 ! subcutaneous adipose tissue +relationship: excluded_subClassOf MONDO:0005546 {source="DOID:1526"} ! fibromyalgia [Term] id: MONDO:0006592 @@ -113540,7 +114699,7 @@ xref: SCTID:53597009 {source="MONDO:kboom-pr-0.96/0.76/2.17", source="DOID:4407" xref: SCTID:84326006 {source="DOID:4407"} xref: UMLS:C0162830 {source="DOID:4407", source="NCIT:C4816", source="MONDO:equivalentTo"} xref: Wikipedia:Photodermatitis {source="EFO:1000753"} -is_a: MONDO:0002406 {source="MESH:D017484/inferred", source="MONDO:Redundant", source="NCIT:C4816"} ! dermatitis +is_a: MONDO:0002406 {source="DOID:4407/inferred", source="MESH:D017484/inferred", source="MONDO:Redundant", source="NCIT:C4816"} ! dermatitis is_a: MONDO:0006564 {source="DOID:4407", source="EFO:1000753", source="MESH:D017484", source="MONDO:Entailed"} ! irritant dermatitis is_a: MONDO:0006597 {source="DOID:4407", source="EFO:1000753", source="MESH:D017484", source="MONDOLEX:0006598", source="linkedlifedata"} ! photosensitivity disease intersection_of: MONDO:0006564 ! irritant dermatitis @@ -113586,7 +114745,7 @@ xref: SCTID:77252004 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:8892 xref: UMLS:C0032026 {source="DOID:8892", source="MONDO:equivalentTo", source="NCIT:C26855"} xref: Wikipedia:Pityriasis_rosea {source="EFO:1000756"} is_a: MONDO:0002406 {source="NCIT:C26855"} ! dermatitis -is_a: MONDO:0006547 {source="EFO:1000756", source="MONDO:cjm", source="linkedlife/inferred"} ! exanthem (disease) +is_a: MONDO:0006547 {source="EFO:1000756", source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease) relationship: excluded_subClassOf MONDO:0005083 {source="DOID:8892", source="EFO:1000756"} ! psoriasis [Term] @@ -113666,7 +114825,7 @@ xref: EFO:1000761 {source="MONDO:equivalentTo"} xref: MESH:D012536 {source="MONDO:ontobio", source="DOID:3136", source="MONDO:equivalentTo"} xref: SCTID:402694007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:3136", source="MONDO:equivalentTo"} xref: UMLS:C0036271 {source="DOID:3136", source="MONDO:equivalentTo"} -is_a: MONDO:0005093 {source="DOID:3136", source="EFO:1000761", source="MESH:D012536", source="linkedlifedata"} ! skin disease +is_a: MONDO:0005093 {source="DOID:3136", source="EFO:1000761", source="MESH:D012536", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease [Term] id: MONDO:0006606 @@ -113695,7 +114854,7 @@ xref: SCTID:72967001 {source="DOID:3140"} xref: SCTID:95323007 {source="DOID:3140", source="MONDO:relatedTo"} xref: UMLS:C0036413 {source="NCIT:C85057", source="DOID:3140", source="MONDO:equivalentTo"} is_a: MONDO:0002523 {source="DOID:3140", source="MESH:D012592"} ! cutaneous mucinosis -is_a: MONDO:0005093 {source="DOID:3140", source="EFO:1000762", source="MESH:D012592"} ! skin disease +is_a: MONDO:0005093 {source="DOID:3140", source="DOID:3140/inferred", source="EFO:1000762", source="MESH:D012592"} ! skin disease [Term] id: MONDO:0006607 @@ -113705,6 +114864,7 @@ synonym: "disease of sebaceous gland" EXACT [MONDO:patterns/location_top] synonym: "disease of sebaceous glands" RELATED [] synonym: "disorder of sebaceous gland" EXACT [MONDO:patterns/location_top] synonym: "sebaceous gland disease" EXACT [MONDO:patterns/location] +synonym: "sebaceous gland disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:9098 {source="EFO:1000763", source="MONDO:equivalentTo"} xref: EFO:1000763 {source="MONDO:equivalentTo"} xref: ICD10:L70.8 {source="DOID:9098"} @@ -113717,7 +114877,7 @@ xref: SCTID:3441005 {source="MONDO:equivalentTo"} xref: UMLS:C0029485 {source="DOID:9098"} xref: UMLS:C0036502 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0005093 {source="DOID:9098", source="EFO:1000763", source="MESH:D012625"} ! skin disease -is_a: MONDO:0024481 {source="linkedlife"} ! skin appendage disease +is_a: MONDO:0024481 {source="linkedlifedata"} ! skin appendage disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001821 ! sebaceous gland @@ -113822,6 +114982,7 @@ def: "Formation of non-necrotizing granulomas in the skin. It may be a manifesta synonym: "cutaneous sarcoid" EXACT [DOID:13402, SCTID:187234008] synonym: "cutaneous sarcoidosis" EXACT [DOID:13402, NCIT:C34996] synonym: "cutaneous sarcoidosis (disorder)" EXACT [DOID:13402, SCTID:55941000] +synonym: "sarcoidosis of zone of skin" EXACT [MONDO:design_pattern] synonym: "zone of skin sarcoidosis" EXACT [MONDO:patterns/location] xref: COHD:4185547 {source="MONDO:equivalentTo"} xref: DOID:13402 {source="EFO:1000767", source="MONDO:equivalentTo"} @@ -113832,7 +114993,6 @@ xref: SCTID:187234008 {source="DOID:13402"} xref: SCTID:55941000 {source="MONDO:kboom-pr-1.00/0.91/27.01", source="MONDO:equivalentTo", source="DOID:13402"} xref: UMLS:C0036203 {source="NCIT:C34996", source="MONDO:equivalentTo", source="DOID:13402"} xref: Wikipedia:Cutaneous_manifestations_of_sarcoidosis {source="EFO:1000767"} -is_a: MONDO:0019293 {source="OWLReasoner:2017"} ! skin vascular disease is_a: MONDO:0019338 {source="DOID:13402", source="MONDO:Entailed", source="NCIT:C34996"} ! sarcoidosis intersection_of: MONDO:0019338 ! sarcoidosis intersection_of: disease_has_location UBERON:0000014 ! zone of skin @@ -113860,7 +115020,7 @@ xref: ICD9:371.12 {source="i2s", source="DOID:12311", source="MONDO:equivalentTo xref: SCTID:55031000 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:12311", source="MONDO:equivalentTo"} xref: UMLS:C0155105 {source="DOID:12311", source="MONDO:equivalentTo"} is_a: MONDO:0001308 {source="DOID:12311", source="linkedlifedata"} ! corneal deposit -is_a: MONDO:0006600 {source="DOID:12311", source="EFO:1000770"} ! pigmentation disease +is_a: MONDO:0006600 {source="DOID:12311", source="EFO:1000770", source="linkedlifedata"} ! pigmentation disease [Term] id: MONDO:0006614 @@ -113895,6 +115055,7 @@ synonym: "disease of sweat glands" RELATED [] synonym: "disorder of sweat gland" EXACT [MONDO:patterns/location_top] synonym: "disorder of sweat glands" RELATED [] synonym: "sweat gland disease" EXACT [MONDO:patterns/location] +synonym: "sweat gland disease or disorder" EXACT [MONDO:design_pattern] xref: DOID:1383 {source="EFO:1000772", source="MONDO:equivalentTo"} xref: EFO:1000772 {source="MONDO:equivalentTo"} xref: ICD10:L74 {source="DOID:1383"} @@ -113998,6 +115159,7 @@ def: "A polypoid lesion that arises from the vulva and is characterized by the p synonym: "fibroepithelial polyp of the vulva" EXACT [NCIT:C6857] synonym: "fibroepithelial polyp of vulva" EXACT [NCIT:C6857] synonym: "mammalian vulva skin tag" EXACT [MONDO:patterns/location] +synonym: "skin tag of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "vulval fibroepithelial polyp" EXACT [DOID:8255, NCIT:C6857] synonym: "vulvar fibroepithelial polyp" EXACT [NCIT:C6857] synonym: "vulvar fibroepithelial stromal polyp" EXACT [NCIT:C6857] @@ -114015,6 +115177,8 @@ intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva id: MONDO:0006621 name: vulvar inverted follicular keratosis def: "Seborrheic keratosis that arises from follicular structures in the vulva. It is characterized by the presence of prominent squamous eddies." [NCIT:P378] +synonym: "inverted follicular keratosis of mammalian vulva" EXACT [MONDO:design_pattern] +synonym: "mammalian vulva inverted follicular keratosis" EXACT [MONDO:design_pattern] xref: DOID:6943 {source="EFO:1000778", source="MONDO:equivalentTo"} xref: EFO:1000778 {source="MONDO:equivalentTo"} xref: NCIT:C40291 {source="DOID:6943", source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equivalentTo"} @@ -114029,6 +115193,7 @@ id: MONDO:0006622 name: vulvar seborrheic keratosis def: "A benign squamous neoplasm that arises from the vulva. It is characterized by the proliferation of the basal cells in the squamous epithelium, acanthosis, hyperkeratosis, and cysts formation." [NCIT:P378] synonym: "mammalian vulva seborrheic keratosis" EXACT [MONDO:patterns/location] +synonym: "seborrheic keratosis of mammalian vulva" EXACT [MONDO:design_pattern] synonym: "seborrheic keratosis of the vulva" EXACT [NCIT:C6375] synonym: "seborrheic keratosis of vulva" EXACT [DOID:6944, NCIT:C6375] xref: DOID:6944 {source="EFO:1000779", source="MONDO:equivalentTo"} @@ -114058,7 +115223,7 @@ xref: ICD9:596.51 {source="i2s", source="MONDO:equivalentTo"} xref: MedDRA:10020853 {source="EFO:1000781"} xref: MESH:D053201 {source="EFO:1000781", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:236633002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"} -is_a: MONDO:0006026 {source="EFO:1000781", source="MESH:D053201", source="linkedlifedata"} ! urinary bladder disease +is_a: MONDO:0006026 {source="EFO:1000781", source="MESH:D053201", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary bladder disease [Term] id: MONDO:0006625 @@ -114087,7 +115252,7 @@ xref: SCTID:230572002 {source="DOID:9743", source="MONDO:kboom-pr-1.00/0.85/15.4 xref: SCTID:267472008 {source="DOID:9743"} xref: SCTID:866003 {source="DOID:9743"} xref: UMLS:C0011882 {source="DOID:9743", source="NCIT:C26748", source="MONDO:equivalentTo"} -is_a: MONDO:0005244 {source="EFO:1000783", source="EFO:1000783/inferred", source="MONDOLEX:0006626", source="NCIT:C26748", source="linkedlifedata"} ! peripheral neuropathy +is_a: MONDO:0005244 {source="DOID:9743", source="EFO:1000783", source="EFO:1000783/inferred", source="MONDOLEX:0006626", source="NCIT:C26748", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy intersection_of: MONDO:0005244 ! peripheral neuropathy intersection_of: disease_arises_from_feature MONDO:0005015 ! diabetes mellitus (disease) @@ -114233,7 +115398,7 @@ xref: SCTID:197649009 {source="DOID:12556"} xref: SCTID:23697004 {source="MONDO:relatedTo", source="DOID:12556"} xref: SCTID:35455006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12556", source="MONDO:equivalentTo"} xref: UMLS:C0022672 {source="NCIT:C34749", source="DOID:12556", source="MONDO:equivalentTo"} -is_a: MONDO:0002492 {source="DOID:12556", source="MESH:D007683", source="MONDOLEX:0006637"} ! acute kidney failure +is_a: MONDO:0002492 {source="DOID:12556", source="MESH:D007683", source="MONDOLEX:0006637", source="NCIT:C34749"} ! acute kidney failure [Term] id: MONDO:0006638 @@ -114245,7 +115410,7 @@ xref: EFO:1000795 {source="MONDO:equivalentTo"} xref: MESH:D015882 {source="DOID:3611", source="MONDO:ontobio", source="EFO:1000795", source="MONDO:equivalentTo"} xref: SCTID:231986000 {source="DOID:3611", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1000795", source="MONDO:equivalentTo"} xref: UMLS:C0035319 {source="DOID:3611", source="MONDO:equivalentTo"} -is_a: MONDO:0002708 {source="DOID:3611", source="MESH:D015882", source="linkedlifedata"} ! retinitis +is_a: MONDO:0002708 {source="DOID:3611", source="MESH:D015882", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinitis [Term] id: MONDO:0006639 @@ -114309,8 +115474,8 @@ xref: UMLS:C0346402 {source="DOID:660"} is_a: MONDO:0004970 {source="DOID:3959", source="MONDO:Redundant", source="NCIT:C9325"} ! adenocarcinoma is_a: MONDO:0015077 {source="Orphanet:1501"} ! adrenal/paraganglial tumor is_a: MONDO:0019748 {source="Orphanet:1501"} ! rare cause of hypertension -is_a: MONDO:0021069 {source="MONDO:Redundant", source="NCIT:C9325"} ! malignant endocrine neoplasm -is_a: MONDO:0021312 {source="MONDO:Entailed", source="MONDOLEX:0006639", source="NCIT:C9325", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! malignant tumor of adrenal cortex +is_a: MONDO:0021069 {source="DOID:3948/inferred", source="DOID:3959/inferred", source="DOID:660/inferred", source="MONDO:Redundant", source="NCIT:C9325"} ! malignant endocrine neoplasm +is_a: MONDO:0021312 {source="MONDO:Entailed", source="MONDOLEX:0006639", source="NCIT:C9325", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant tumor of adrenal cortex intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001235 ! adrenal cortex relationship: disease_has_location UBERON:0001235 {source="EFO:0000784"} ! adrenal cortex @@ -114344,8 +115509,8 @@ xref: SCTID:275437005 {source="MONDO:kboom-pr-0.89/0.76/0.08", source="MONDO:equ xref: SCTID:47270006 {source="DOID:3947"} xref: UMLS:C0001622 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo", source="DOID:3947"} xref: UMLS:CN205287 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0002816 {source="DOID:3947", source="linkedlife"} ! adrenal cortex disease -is_a: MONDO:0005495 {source="MESH:D000308", source="linkedlife/inferred"} ! adrenal gland disease +is_a: MONDO:0002816 {source="DOID:3947", source="linkedlifedata"} ! adrenal cortex disease +is_a: MONDO:0005495 {source="DOID:3947/inferred", source="MESH:D000308", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! adrenal gland disease relationship: disease_has_feature HP:0002717 ! Adrenal overactivity [Term] @@ -114382,9 +115547,9 @@ xref: ICD9:291.0 {source="EFO:1000800", source="i2s", source="MONDO:equivalentTo xref: MedDRA:10001610 {source="EFO:1000800"} xref: MESH:D000430 {source="MONDO:ontobio", source="EFO:1000800", source="MONDO:equivalentTo"} xref: SCTID:8635005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1000800", source="MONDO:equivalentTo"} -is_a: MONDO:0005084 {source="EFO:1000800", source="MONDO:Redundant", source="linkedlifedata"} ! mental disorder +is_a: MONDO:0005084 {source="EFO:1000800", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! mental disorder is_a: MONDO:0005433 {source="MONDO:cjm", source="MONDOLEX:0006642", source="linkedlifedata"} ! alcohol withdrawal -is_a: MONDO:0005567 {source="MESH:D000430", source="MONDO:0006642/inferred", source="MONDO:Redundant", source="MONDOLEX:0006642/inferred", source="linkedlifedata"} ! substance withdrawal syndrome +is_a: MONDO:0005567 {source="MESH:D000430", source="MONDO:0006642/inferred", source="MONDO:Redundant", source="MONDOLEX:0006642/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! substance withdrawal syndrome is_a: MONDO:0021698 {source="MESH:D000430", source="MESH:D000430/inferred"} ! alcohol-related disorders relationship: disease_has_major_feature HP:0031258 ! Delirium @@ -114406,11 +115571,11 @@ xref: NCIT:C53653 {source="DOID:12935", source="MONDO:kboom-pr-1.00/0.87/15.87", xref: SCTID:155352001 {source="DOID:12935"} xref: SCTID:83521008 {source="DOID:12935", source="MONDO:kboom-pr-1.00/0.76/7.58", source="EFO:1000801", source="MONDO:equivalentTo"} xref: UMLS:C0007192 {source="DOID:12935", source="NCIT:C53653", source="MONDO:equivalentTo"} -is_a: MONDO:0002824 {source="DOID:12935"} ! extrinsic cardiomyopathy -is_a: MONDO:0004994 {source="EFO:1000801", source="ICD10:I42.6", source="MESH:D002310", source="MONDO:Redundant", source="NCIT:C53653", source="linkedlifedata"} ! cardiomyopathy +is_a: MONDO:0002824 {source="DOID:12935", source="linkedlifedata/inferred"} ! extrinsic cardiomyopathy +is_a: MONDO:0004994 {source="DOID:12935/inferred", source="EFO:1000801", source="ICD10:I42.6", source="MESH:D002310", source="MONDO:Redundant", source="NCIT:C53653", source="linkedlifedata", source="linkedlifedata/inferred"} ! cardiomyopathy is_a: MONDO:0021699 {source="MESH:D002310", source="MONDO:Entailed"} ! alcohol-induced disorders intersection_of: MONDO:0004994 ! cardiomyopathy -intersection_of: MONDO:0021699 ! alcohol-induced disorders +intersection_of: realized_in_response_to ECTO:0001082 ! alcohol consumption related exposure [Term] id: MONDO:0006644 @@ -114439,14 +115604,15 @@ xref: SCTID:420054005 {source="DOID:14018", source="EFO:1000802"} xref: SCTID:75393009 {source="DOID:14018"} xref: UMLS:C0023891 {source="DOID:14018", source="MONDO:equivalentTo"} xref: UMLS:C1622502 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0005155 {source="DOID:14018", source="EFO:1000802", source="MESH:D008104", source="linkedlifedata"} ! cirrhosis of liver +is_a: MONDO:0005155 {source="DOID:14018", source="EFO:1000802", source="MESH:D008104", source="NCIT:C34782", source="linkedlifedata"} ! cirrhosis of liver +intersection_of: MONDO:0005155 ! cirrhosis of liver +intersection_of: realized_in_response_to ECTO:0001082 ! alcohol consumption related exposure [Term] id: MONDO:0006645 -name: alcoholic neuropathy -def: "Any disease affecting more than one nerve." [NCIT:P378] +name: alcoholic polyneuropathy synonym: "alcohol-related polyneuropathy" EXACT [DOID:14183, SCTID:155083006] -synonym: "alcoholic polyneuropathy" EXACT [DOID:14183, ICD9CM_2006:357.5] +synonym: "alcoholic neuropathy" EXACT [DOID:14183] xref: COHD:378421 {source="MONDO:equivalentTo"} xref: DOID:14183 {source="MONDO:equivalentTo", source="EFO:1000803"} xref: EFO:1000803 {source="MONDO:equivalentTo"} @@ -114458,7 +115624,9 @@ xref: SCTID:123050003 {source="DOID:14183"} xref: SCTID:155083006 {source="DOID:14183"} xref: SCTID:7916009 {source="DOID:14183", source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0085677 {source="DOID:14183", source="NCIT:C26926", source="MONDO:equivalentTo"} -is_a: MONDO:0002336 {source="DOID:14183"} ! inflammatory and toxic neuropathy +intersection_of: MONDO:0001824 ! polyneuropathy +intersection_of: realized_in_response_to ECTO:0001082 ! alcohol consumption related exposure +relationship: excluded_subClassOf MONDO:0002336 {source="DOID:14183"} ! inflammatory and toxic neuropathy [Term] id: MONDO:0006646 @@ -114504,7 +115672,7 @@ xref: SCTID:157669006 {source="DOID:3933"} xref: SCTID:212379008 {source="DOID:3933"} xref: SCTID:269407005 {source="DOID:3933"} xref: UMLS:C0003152 {source="DOID:3933", source="MONDO:equivalentTo"} -is_a: MONDO:0004001 {source="DOID:3933", source="MESH:D000868", source="MONDOLEX:0006648"} ! compartment syndrome +is_a: MONDO:0004001 {source="DOID:3933", source="MESH:D000868", source="MONDOLEX:0006648", source="linkedlifedata", source="linkedlifedata/inferred"} ! compartment syndrome is_a: MONDO:0005218 {source="EFO:1000808", source="MESH:D000868/inferred"} ! muscular disease [Term] @@ -114526,7 +115694,7 @@ xref: MESH:D018917 {source="MONDO:ontobio", source="EFO:1000809", source="DOID:1 xref: SCTID:14357004 {source="DOID:12010"} xref: SCTID:404659001 {source="EFO:1000809", source="MONDO:kboom-pr-0.90/0.77/0.29", source="MONDO:equivalentTo"} xref: UMLS:C0155305 {source="DOID:12010", source="MONDO:equivalentTo"} -is_a: MONDO:0002135 {source="DOID:12010", source="MESH:D018917", source="MONDOLEX:0006649", source="linkedlife/inferred"} ! optic nerve disease +is_a: MONDO:0002135 {source="DOID:12010", source="MESH:D018917", source="MONDOLEX:0006649", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic nerve disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9790/anterior-ischemic-optic-neuropathy xsd:anyURI {source="GARD:0009790"} [Term] @@ -114573,7 +115741,7 @@ xref: SCTID:410692006 {source="EFO:1000811", source="MONDO:equivalentTo", source xref: SCTID:77971008 {source="MONDO:superClassOf", source="DOID:1407"} xref: UMLS:C0022073 {source="Orphanet:280886", source="MONDO:superClassOf"} xref: UMLS:C0042165 {source="Orphanet:280886", source="ORDO:280886/e", source="MONDO:equivalentTo", source="NCIT:C35109", source="DOID:1407"} -is_a: MONDO:0020283 {source="NCIT:C35109", source="Orphanet:280886", source="linkedlifedata"} ! uveitis (disease) +is_a: MONDO:0020283 {source="DOID:1407/inferred", source="NCIT:C35109", source="Orphanet:280886", source="linkedlifedata"} ! uveitis (disease) [Term] id: MONDO:0006652 @@ -114614,7 +115782,7 @@ xref: MESH:D000874 {source="DOID:10324", source="MONDO:ontobio", source="EFO:100 xref: NCIT:C34389 {source="DOID:10324", source="EFO:1000813", source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} xref: SCTID:33548005 {source="DOID:10324", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000813", source="MONDO:equivalentTo"} xref: UMLS:C0003164 {source="DOID:10324", source="NCIT:C34389", source="MONDO:equivalentTo"} -is_a: MONDO:0015926 {source="DOID:10324", source="EFO:1000813", source="MESH:D000874/inferred", source="NCIT:C34389", source="linkedlifedata"} ! pneumoconiosis +is_a: MONDO:0015926 {source="DOID:10324", source="EFO:1000813", source="MESH:D000874/inferred", source="NCIT:C34389", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis [Term] id: MONDO:0006654 @@ -114636,7 +115804,7 @@ xref: NCIT:C34390 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10327", xref: SCTID:155588007 {source="DOID:10327"} xref: SCTID:29422001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10327", source="MONDO:equivalentTo", source="EFO:1000814"} xref: UMLS:C0003165 {source="DOID:10327", source="NCIT:C34390", source="MONDO:equivalentTo"} -is_a: MONDO:0015926 {source="DOID:10327", source="EFO:1000814", source="MESH:D055008", source="MONDO:Entailed", source="NCIT:C34390", source="linkedlifedata"} ! pneumoconiosis +is_a: MONDO:0015926 {source="DOID:10327", source="EFO:1000814", source="MESH:D055008", source="MONDO:Entailed", source="NCIT:C34390", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumoconiosis intersection_of: MONDO:0015926 ! pneumoconiosis intersection_of: realized_in_response_to_stimulus ENVO:02000099 ! coal dust @@ -114668,7 +115836,7 @@ xref: SCTID:195368003 {source="DOID:519"} xref: SCTID:70933002 {source="DOID:519", source="EFO:1000816", source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0003509 {source="DOID:519", source="NCIT:C97085", source="MONDO:equivalentTo"} is_a: MONDO:0005561 {source="DOID:519", source="EFO:1000816", source="MESH:D001025", source="MONDO:Entailed", source="linkedlifedata"} ! aortic disease -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000947 ! aorta @@ -114687,7 +115855,7 @@ xref: SCTID:237770005 {source="EFO:1000817", source="DOID:4367", source="MONDO:k xref: UMLS:C0342488 {source="DOID:4367", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C2936861 {source="NCIT:C123231", source="MONDO:relatedTo"} is_a: MONDO:0002254 {source="NCIT:C123231"} ! syndromic disease -is_a: MONDO:0005523 {source="DOID:4367"} ! steroid inherited metabolic disorder +is_a: MONDO:0005523 {source="DOID:4367", source="MESH:D043204"} ! steroid inherited metabolic disorder [Term] id: MONDO:0006658 @@ -114701,7 +115869,7 @@ xref: MESH:D050379 {source="EFO:1000819", source="MONDO:ontobio", source="MONDO: xref: NCIT:C35543 {source="MONDO:kboom-pr-1.00/0.86/15.87", source="EFO:1000819", source="MONDO:equivalentTo", source="DOID:5162"} xref: SCTID:17941002 {source="EFO:1000819", source="DOID:5162"} xref: UMLS:C0878486 {source="NCIT:C35543", source="MONDO:equivalentTo", source="DOID:5162"} -is_a: MONDO:0002277 {source="DOID:5162", source="MESH:D050379", source="MONDO:Redundant", source="NCIT:C35543"} ! arteriosclerosis disorder +is_a: MONDO:0002277 {source="DOID:5162", source="EFO:1000819", source="MESH:D050379", source="MONDO:Redundant", source="NCIT:C35543"} ! arteriosclerosis disorder is_a: MONDO:0005010 {source="EFO:1000819", source="EFO:1000819/inferred", source="MONDO:Redundant"} ! coronary artery disease [Term] @@ -114755,7 +115923,7 @@ xref: ICD9:267 {source="i2s", source="MONDO:equivalentTo"} xref: MedDRA:10047623 {source="EFO:1000822"} xref: MESH:D001206 {source="MONDO:ontobio", source="EFO:1000822", source="MONDO:equivalentTo"} xref: SCTID:76169001 {source="MONDO:kboom-pr-0.92/0.83/0.09", source="EFO:1000822", source="MONDO:equivalentTo"} -is_a: MONDO:0006873 {source="EFO:1000822", source="MESH:D001206/inferred", source="linkedlifedata"} ! nutritional deficiency disease +is_a: MONDO:0006873 {source="EFO:1000822", source="MESH:D001206/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease [Term] id: MONDO:0006662 @@ -114774,9 +115942,9 @@ xref: SCTID:186490006 {source="DOID:12157"} xref: SCTID:301770000 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:12157", source="EFO:1000823", source="MONDO:equivalentTo"} xref: SCTID:58170007 {source="MONDO:subClassOf", source="DOID:12157"} xref: UMLS:C0025290 {source="NCIT:C118299", source="DOID:12157", source="MONDO:equivalentTo"} -is_a: MONDO:0007015 {source="DOID:12157"} ! viral meningitis is_a: MONDO:0021108 {source="MONDO:Redundant", source="NCIT:C118299", source="linkedlifedata"} ! meningitis (disease) disjoint_from: MONDO:0006670 ! bacterial meningitis +relationship: excluded_subClassOf MONDO:0007015 {source="DOID:12157"} ! viral meningitis [Term] id: MONDO:0006663 @@ -114889,7 +116057,7 @@ xref: SCTID:270533009 {source="DOID:8929"} xref: SCTID:84568007 {source="MONDO:kboom-pr-1.00/0.80/9.64", source="DOID:8929", source="EFO:1000826", source="MONDO:equivalentTo"} xref: UMLS:C0017154 {source="NCIT:C7405", source="DOID:8929"} xref: UMLS:C0156073 {source="DOID:8929"} -is_a: MONDO:0004966 {source="DOID:8929", source="EFO:1000826", source="MESH:D005757", source="MONDO:Redundant", source="NCIT:C7405/inferred", source="linkedlifedata"} ! gastritis (disease) +is_a: MONDO:0004966 {source="DOID:8929", source="EFO:1000826", source="MESH:D005757", source="MONDO:Redundant", source="NCIT:C7405/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastritis (disease) is_a: MONDO:0005001 {source="NCIT:C7405", source="linkedlifedata"} ! chronic gastritis (disease) [Term] @@ -114961,7 +116129,7 @@ xref: MESH:D004697 {source="MONDO:ontobio", source="EFO:1000830", source="MONDO: xref: NCIT:C128359 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: SCTID:301183007 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1000830", source="MONDO:equivalentTo"} xref: UMLS:C0014121 {source="NCIT:C128359", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005025 {source="EFO:1000830", source="MESH:D004697", source="MONDO:Entailed", source="NCIT:C128359", source="linkedlifedata"} ! endocarditis (disease) +is_a: MONDO:0005025 {source="EFO:1000830", source="MESH:D004697", source="MONDO:Entailed", source="NCIT:C128359", source="linkedlifedata", source="linkedlifedata/inferred"} ! endocarditis (disease) intersection_of: MONDO:0005025 ! endocarditis (disease) intersection_of: realized_in_response_to_stimulus NCBITaxon:2 ! Bacteria @@ -114989,7 +116157,7 @@ xref: SCTID:192662001 {source="DOID:9470"} xref: SCTID:267680008 {source="DOID:9470"} xref: SCTID:95883001 {source="DOID:9470", source="MONDO:kboom-pr-1.00/0.81/10.66", source="EFO:1000831", source="MONDO:equivalentTo"} xref: UMLS:C0085437 {source="DOID:9470", source="MONDO:equivalentTo", source="NCIT:C118297"} -is_a: MONDO:0004796 {source="EFO:1000831", source="MESH:D016920", source="MONDO:Entailed", source="NCIT:C118297", source="linkedlifedata"} ! infectious meningitis +is_a: MONDO:0004796 {source="DOID:9470", source="EFO:1000831", source="MESH:D016920", source="MONDO:Entailed", source="NCIT:C118297", source="linkedlifedata"} ! infectious meningitis intersection_of: MONDO:0004796 ! infectious meningitis intersection_of: realized_in_response_to_stimulus NCBITaxon:2 ! Bacteria property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5881/bacterial-meningitis xsd:anyURI {source="GARD:0005881"} @@ -115009,9 +116177,9 @@ xref: ICD9:041.84 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D001442 {source="EFO:1000832", source="MONDO:equivalentTo"} xref: SCTID:2918000 {source="MONDO:equivalentTo"} xref: UMLS:C0004669 {source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1000832", source="MESH:D001442/inferred", source="MONDO:Redundant", source="linkedlife/inferred"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="EFO:1000832", source="MESH:D001442/inferred", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0006705 {source="MESH:D001442", source="MONDO:Entailed"} ! Bacteroidaceae infectious disease -is_a: MONDO:0024389 {source="linkedlife"} ! anaerobic bacteria infectious disease +is_a: MONDO:0024389 {source="linkedlifedata"} ! anaerobic bacteria infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:816 ! Bacteroides @@ -115035,8 +116203,8 @@ xref: SCTID:266572002 {source="DOID:13033"} xref: SCTID:371163003 {source="DOID:13033"} xref: SCTID:44882003 {source="MONDO:kboom-pr-0.94/0.86/0.40", source="DOID:13033", source="EFO:1000833", source="MONDO:equivalentTo"} xref: UMLS:C0004690 {source="DOID:13033", source="NCIT:C26705", source="MONDO:equivalentTo"} -is_a: MONDO:0002036 {source="DOID:13033", source="MESH:D001446", source="MONDO:Entailed", source="NCIT:C26705/inferred"} ! penile disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0002036 {source="DOID:13033", source="MESH:D001446", source="MONDO:Entailed", source="NCIT:C26705/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! penile disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001299 ! glans penis @@ -115108,8 +116276,8 @@ xref: SCTID:267491008 {source="DOID:13725"} xref: SCTID:35843007 {source="DOID:13725"} xref: SCTID:36656008 {source="DOID:13725", source="MONDO:kboom-pr-0.94/0.68/2.15", source="EFO:1000837", source="MONDO:equivalentTo"} xref: UMLS:C0005122 {source="DOID:13725", source="MONDO:equivalentTo"} -is_a: MONDO:0006873 {source="DOID:13725", source="EFO:1000837", source="MESH:D001602/inferred", source="linkedlifedata"} ! nutritional deficiency disease -is_a: MONDO:0042976 {source="NCIT:C34418"} ! vitamin B deficiency +is_a: MONDO:0006873 {source="DOID:13725", source="EFO:1000837", source="MESH:D001602/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease +is_a: MONDO:0042976 {source="MESH:D001602/inferred", source="NCIT:C34418", source="linkedlifedata/inferred"} ! vitamin B deficiency property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9948/beriberi xsd:anyURI {source="GARD:0009948"} [Term] @@ -115159,7 +116327,7 @@ xref: SCTID:25220001 {source="DOID:13948"} xref: SCTID:399072004 {source="DOID:13948", source="EFO:1000840", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: SCTID:416991005 {source="DOID:13948"} xref: UMLS:C0005694 {source="DOID:13948", source="MONDO:equivalentTo"} -is_a: MONDO:0006026 {source="DOID:13948", source="EFO:1000840", source="MESH:D001748", source="linkedlifedata"} ! urinary bladder disease +is_a: MONDO:0006026 {source="DOID:13948", source="EFO:1000840", source="MESH:D001748", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary bladder disease [Term] id: MONDO:0006680 @@ -115187,7 +116355,7 @@ xref: NCIT:C3803 {source="EFO:1000841", source="exact-label-match", source="MOND xref: SCTID:254806009 {source="MONDO:equivalentTo"} xref: SCTID:63166000 {source="EFO:1000841"} xref: UMLS:C0206736 {source="NCIT:C3803", source="GARD:0008452"} -is_a: MONDO:0005073 {source="EFO:1000841", source="MESH:D018329/inferred", source="NCIT:C3803/inferred"} ! melanocytic nevus +is_a: MONDO:0005073 {source="EFO:1000841", source="MESH:D018329/inferred", source="NCIT:C3803/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! melanocytic nevus [Term] id: MONDO:0006681 @@ -115198,7 +116366,7 @@ xref: EFO:1000842 {source="MONDO:equivalentTo"} xref: MedDRA:10061591 {source="EFO:1000842"} xref: MESH:D001899 {source="EFO:1000842", source="MONDO:equivalentTo"} xref: UMLS:C0006035 {source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1000842"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="EFO:1000842", source="MESH:D001899/inferred"} ! bacterial infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:138 ! Borrelia @@ -115215,6 +116383,7 @@ synonym: "brachial nerve plexus neuritis" EXACT [MONDO:patterns/location] synonym: "brachial neuritis" EXACT [DOID:3689, SCTID:156642003, SCTID:268079007, SCTID:3548001] synonym: "brachial neuritis (disorder)" EXACT [DOID:3689, SCTID:72893007] synonym: "idiopathic neuralgic amyotrophy" RELATED [GARD:0004228] +synonym: "neuritis of brachial nerve plexus" EXACT [MONDO:design_pattern] synonym: "parsonage Turner syndrome" RELATED [GARD:0004228] synonym: "parsonage-Aldren-Turner syndrome" EXACT [DOID:3689, MTHICD9_2006:353.5, SCTID:26609002] xref: DOID:3689 {source="EFO:1000843", source="MONDO:equivalentTo"} @@ -115243,6 +116412,7 @@ def: "A brachial plexus disorder characterized by regional paresthesia, pain and synonym: "brachial nerve plexus peripheral neuropathy" EXACT [MONDO:patterns/location] synonym: "brachial plexopathy" EXACT [DOID:3690, NCIT:C27194] synonym: "brachial plexus disorder" EXACT [DOID:3690, SCTID:3548001] +synonym: "peripheral neuropathy of brachial nerve plexus" EXACT [MONDO:design_pattern] xref: COHD:378741 {source="MONDO:equivalentTo"} xref: DOID:3690 {source="EFO:1000844", source="MONDO:equivalentTo"} xref: EFO:1000844 {source="MONDO:equivalentTo"} @@ -115252,8 +116422,8 @@ xref: MESH:D020516 {source="MONDO:ontobio", source="DOID:3690", source="EFO:1000 xref: NCIT:C27194 {source="DOID:3690", source="MONDO:kboom-pr-1.00/0.91/29.45", source="MONDO:equivalentTo"} xref: SCTID:3548001 {source="MONDO:kboom-pr-0.94/0.75/1.59", source="DOID:3690", source="MONDO:equivalentTo"} xref: UMLS:C0700251 {source="DOID:3690", source="NCIT:C27194", source="MONDO:equivalentTo"} -is_a: MONDO:0002733 {source="NCIT:C27194"} ! plexopathy -is_a: MONDO:0005244 {source="DOID:3690", source="MONDO:Redundant", source="linkedlifedata"} ! peripheral neuropathy +is_a: MONDO:0005244 {source="DOID:3690", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy +is_a: MONDO:0024432 {source="NCIT:C27194"} ! nerve plexus disease intersection_of: MONDO:0005244 ! peripheral neuropathy intersection_of: disease_has_location UBERON:0001814 ! brachial nerve plexus @@ -115287,7 +116457,9 @@ relationship: disease_has_feature MONDO:0100035 {source="http://orcid.org/0000-0 id: MONDO:0006686 name: brain stem infarction def: "Infarctions that occur in the brain stem which is comprised of the midbrain; pons; and medulla oblongata. There are several named syndromes characterized by their distinctive clinical manifestations and specific sites of ischemic injury." [MESH:D020526] +synonym: "brain infarction of brainstem" EXACT [MONDO:design_pattern] synonym: "brain stem infarction (disorder)" EXACT [DOID:3523, SCTID:95457000] +synonym: "brainstem brain infarction" EXACT [MONDO:design_pattern] synonym: "brainstem infarction" EXACT [DOID:3523, SCTID:195192004] synonym: "brainstem infarction NOS" RELATED EXCLUDE [DOID:3523, SCTID:195191006] synonym: "brainstem infarction NOS (disorder)" EXACT [DOID:3523, SCTID:230697005] @@ -115328,7 +116500,7 @@ xref: UMLS:C0006430 {source="NCIT:C62545", source="Orphanet:353253", source="DOI xref: UMLS:C2930806 {source="Orphanet:353253", source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} xref: UMLS:CN242089 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0006687", source="NCIT:C62545"} ! syndromic disease -is_a: MONDO:0006858 {source="DOID:4331", source="MESH:D002054", source="linkedlifedata"} ! mouth disease +is_a: MONDO:0006858 {source="DOID:4331", source="MESH:D002054", source="NCIT:C62545/inferred", source="linkedlifedata"} ! mouth disease is_a: MONDO:0020011 {source="Orphanet:353253"} ! rare headache disorder [Term] @@ -115461,7 +116633,7 @@ xref: SCTID:195220007 {source="DOID:12720"} xref: SCTID:266258005 {source="DOID:12720"} xref: SCTID:55382008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1000860", source="MONDO:equivalentTo", source="DOID:12720"} xref: UMLS:C0007775 {source="MONDO:equivalentTo", source="DOID:12720", source="NCIT:C34459"} -is_a: MONDO:0005311 {source="DOID:12720", source="EFO:1000860", source="NCIT:C34459"} ! atherosclerosis +is_a: MONDO:0005311 {source="DOID:12720", source="EFO:1000860", source="NCIT:C34459", source="linkedlifedata"} ! atherosclerosis [Term] id: MONDO:0006695 @@ -115483,7 +116655,7 @@ xref: SCTID:156011009 {source="DOID:3456"} xref: SCTID:266662008 {source="DOID:3456"} xref: SCTID:61253004 {source="DOID:3456", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1000862", source="MONDO:equivalentTo"} xref: UMLS:C0007869 {source="DOID:3456", source="MONDO:equivalentTo"} -is_a: MONDO:0002256 {source="DOID:3456", source="MESH:D002579", source="linkedlife", source="linkedlifedata"} ! cervix disease +is_a: MONDO:0002256 {source="DOID:3456", source="MESH:D002579", source="linkedlifedata", source="linkedlifedata/inferred"} ! cervix disease [Term] id: MONDO:0006697 @@ -115492,7 +116664,7 @@ def: "Infections with bacteria of the genus chlamydophila." [MESH:D023521] xref: DOID:11264 {source="EFO:1000863", source="MONDO:obsolete"} xref: EFO:1000863 {source="MONDO:equivalentTo"} xref: MESH:D023521 {source="EFO:1000863", source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1000863"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="EFO:1000863", source="MESH:D023521/inferred"} ! bacterial infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:83553 ! Chlamydophila @@ -115526,7 +116698,10 @@ xref: SCTID:49910001 {source="DOID:11755"} xref: UMLS:C0701818 {source="DOID:11755", source="MONDO:equivalentTo"} is_a: MONDO:0002886 {source="DOID:11755", source="MESH:D042883"} ! common bile duct disease is_a: MONDO:0005151 {source="EFO:1000865"} ! endocrine system disease -is_a: MONDO:0005281 {source="DOID:11755"} ! gallbladder disease +intersection_of: MONDO:0005346 ! gallstones +intersection_of: disease_has_location UBERON:0001174 ! common bile duct +relationship: excluded_subClassOf MONDO:0005151 {source="EFO:1000865"} ! endocrine system disease +relationship: excluded_subClassOf MONDO:0005281 {source="DOID:11755"} ! gallbladder disease [Term] id: MONDO:0006700 @@ -115544,6 +116719,7 @@ synonym: "malignant optic choroid neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant tumor of choroid" EXACT [NCIT:C3566] synonym: "malignant tumor of choroid (disorder)" EXACT [DOID:12759, SCTID:363466008] synonym: "malignant tumor of the choroid" EXACT [DOID:12759, NCIT:C3566] +synonym: "neoplasm of choroid" EXACT [DOID:12759] synonym: "neoplasm of choroid (disorder)" EXACT [DOID:12759, SCTID:127001008] synonym: "optic choroid cancer" EXACT [MONDO:patterns/location] xref: DOID:12759 {source="EFO:1000866", source="MONDO:equivalentTo"} @@ -115559,7 +116735,7 @@ xref: SCTID:363466008 {source="MONDO:kboom-pr-0.88/0.76/0.10", source="DOID:1275 xref: SCTID:93755007 {source="DOID:12759"} xref: UMLS:C0008523 {source="DOID:12759"} xref: UMLS:C0153630 {source="DOID:12759", source="NCIT:C3566"} -is_a: MONDO:0001898 {source="DOID:12759", source="MESH:D002830", source="MONDO:Redundant", source="NCIT:C3566/inferred", source="linkedlife/inferred"} ! optic choroid disease +is_a: MONDO:0001898 {source="DOID:12759", source="MESH:D002830", source="MONDO:Redundant", source="NCIT:C3566/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic choroid disease is_a: MONDO:0002659 {source="DOID:12759", source="MONDO:Entailed", source="NCIT:C3566"} ! uveal cancer is_a: MONDO:0021258 {source="MONDO:Entailed", source="NCIT:C3566", source="OWLReasoner:Elk-2018-01-09"} ! choroid neoplasm intersection_of: MONDO:0004992 ! cancer @@ -115695,7 +116871,7 @@ xref: MESH:D003138 {source="DOID:4608", source="EFO:1000876", source="MONDO:equi xref: SCTID:126857009 {source="DOID:4608", source="EFO:1000876", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0009442 {source="DOID:4608", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002886 {source="MESH:D003138", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-10"} ! common bile duct disease -is_a: MONDO:0005304 {source="DOID:4608", source="EFO:1000876", source="MONDO:Redundant", source="linkedlife", source="linkedlifedata"} ! biliary tract neoplasm (disease) +is_a: MONDO:0005304 {source="DOID:4608", source="EFO:1000876", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! biliary tract neoplasm (disease) is_a: MONDO:0021385 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-10", source="linkedlifedata"} ! extrahepatic bile duct neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001174 ! common bile duct @@ -115762,7 +116938,7 @@ xref: SCTID:193812004 {source="DOID:11030"} xref: SCTID:193817005 {source="DOID:11030"} xref: SCTID:27194006 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11030", source="EFO:1000879", source="MONDO:equivalentTo"} xref: UMLS:C0010037 {source="DOID:11030", source="MONDO:equivalentTo"} -is_a: MONDO:0000942 {source="DOID:11030", source="MESH:D015715", source="linkedlife"} ! corneal disease +is_a: MONDO:0000942 {source="DOID:11030", source="MESH:D015715", source="linkedlifedata"} ! corneal disease [Term] id: MONDO:0006713 @@ -115795,6 +116971,7 @@ xref: COHD:316427 {source="MONDO:equivalentTo"} xref: DOID:3362 {source="EFO:1000881", source="MONDO:equivalentTo"} xref: EFO:1000881 {source="MONDO:equivalentTo"} xref: GARD:0006200 {source="shared-umls-xref", source="MONDO:equivalentTo"} +xref: HP:0030882 xref: ICD10:I25.4 {source="EFO:1000881"} xref: ICD10:I25.41 {source="DOID:3362"} xref: ICD9:414.11 {source="EFO:1000881", source="DOID:3362", source="i2s", source="MONDO:equivalentTo"} @@ -115803,7 +116980,8 @@ xref: MESH:D003323 {source="MONDO:ontobio", source="EFO:1000881", source="DOID:3 xref: SCTID:373139003 {source="DOID:3362"} xref: SCTID:50570003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1000881", source="DOID:3362", source="MONDO:equivalentTo"} xref: UMLS:C0010051 {source="DOID:3362", source="MONDO:equivalentTo"} -is_a: MONDO:0006779 {source="DOID:3362"} ! heart aneurysm +is_a: MONDO:0005010 {source="linkedlifedata"} ! coronary artery disease +relationship: excluded_subClassOf MONDO:0006779 {source="DOID:3362"} ! heart aneurysm [Term] id: MONDO:0006715 @@ -115819,7 +116997,7 @@ xref: NCIT:C80427 {source="DOID:4248", source="MONDO:otherHierarchy", source="EF xref: SCTID:233970002 {source="DOID:4248", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:251030009 {source="EFO:1000882"} xref: UMLS:C0242231 {source="DOID:4248", source="MONDO:equivalentTo"} -is_a: MONDO:0005010 {source="DOID:4248", source="EFO:1000882", source="EFO:1000882/inferred"} ! coronary artery disease +is_a: MONDO:0005010 {source="DOID:4248", source="EFO:1000882", source="EFO:1000882/inferred", source="linkedlifedata/inferred"} ! coronary artery disease [Term] id: MONDO:0006716 @@ -115827,6 +117005,8 @@ name: coronary thrombosis def: "Coagulation of blood in any of the coronary vessels. The presence of a blood clot (thrombus) often leads to myocardial infarction." [MESH:D003328] synonym: "coronary artery thrombosis" EXACT [DOID:11847] synonym: "coronary artery thrombosis (disorder)" EXACT [DOID:11847, SCTID:66514008] +synonym: "coronary vessel thrombotic disease" EXACT [MONDO:design_pattern] +synonym: "thrombotic disease of coronary vessel" EXACT [MONDO:design_pattern] xref: DOID:11847 {source="EFO:1000883", source="MONDO:equivalentTo"} xref: EFO:1000883 {source="MONDO:equivalentTo"} xref: ICD10:I21 {source="DOID:11847", source="MONDO:relatedTo"} @@ -115839,8 +117019,8 @@ xref: SCTID:266288001 {source="DOID:11847"} xref: SCTID:398274000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11847", source="EFO:1000883", source="MONDO:equivalentTo"} xref: SCTID:66514008 {source="DOID:11847"} xref: UMLS:C0010072 {source="DOID:11847", source="MONDO:equivalentTo"} -is_a: MONDO:0000831 {source="DOID:11847", source="MESH:D003328", source="linkedlifedata"} ! thrombotic disease -is_a: MONDO:0005010 {source="DOID:11847", source="EFO:1000883", source="EFO:1000883/inferred"} ! coronary artery disease +is_a: MONDO:0000831 {source="DOID:11847", source="MESH:D003328", source="linkedlifedata", source="linkedlifedata/inferred"} ! thrombotic disease +is_a: MONDO:0005010 {source="DOID:11847", source="EFO:1000883", source="EFO:1000883/inferred", source="linkedlifedata"} ! coronary artery disease intersection_of: MONDO:0000831 ! thrombotic disease intersection_of: disease_has_location UBERON:0005985 ! coronary vessel @@ -115977,7 +117157,7 @@ xref: NCIT:C85059 {source="EFO:1000892", source="MONDO:kboom-pr-1.00/0.87/15.87" xref: SCTID:120541000119103 {source="DOID:13711"} xref: SCTID:30265004 {source="MONDO:kboom-pr-0.91/0.77/0.65", source="EFO:1000892", source="DOID:13711", source="MONDO:equivalentTo"} xref: UMLS:C0026618 {source="NCIT:C85059", source="DOID:13711", source="MONDO:equivalentTo"} -is_a: MONDO:0006999 {source="DOID:13711", source="EFO:1000892", source="MESH:D009050", source="NCIT:C85059/inferred", source="linkedlifedata"} ! tooth disease +is_a: MONDO:0006999 {source="DOID:13711", source="EFO:1000892", source="MESH:D009050", source="NCIT:C85059/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! tooth disease [Term] id: MONDO:0006723 @@ -116021,7 +117201,7 @@ xref: SCTID:157006001 {source="DOID:10480"} xref: SCTID:268351009 {source="DOID:10480"} xref: SCTID:34168003 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:10480", source="EFO:1000898", source="MONDO:equivalentTo"} xref: UMLS:C0011981 {source="DOID:10480"} -is_a: MONDO:0005728 {source="DOID:10480"} ! diaphragm disease +is_a: MONDO:0005728 {source="DOID:10480", source="linkedlifedata"} ! diaphragm disease [Term] id: MONDO:0006727 @@ -116053,8 +117233,8 @@ xref: ICD9:722.90 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D015299 {source="DOID:10986", source="MONDO:ontobio", source="EFO:1000900", source="MONDO:equivalentTo"} xref: SCTID:2304001 {source="DOID:10986", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1000900", source="MONDO:equivalentTo"} xref: UMLS:C0012624 {source="DOID:10986", source="MONDO:equivalentTo"} -is_a: MONDO:0005569 {source="DOID:10986", source="EFO:1000900", source="linkedlifedata"} ! cartilage disease -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0005569 {source="DOID:10986", source="EFO:1000900", source="linkedlifedata", source="linkedlifedata/inferred"} ! cartilage disease +is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001066 ! intervertebral disk @@ -116099,7 +117279,7 @@ xref: MedDRA:10001540 {source="EFO:1000903"} xref: MESH:D017109 {source="MONDO:ontobio", source="EFO:1000903", source="MONDO:equivalentTo"} xref: NCIT:C78163 {source="MONDO:otherHierarchy", source="EFO:1000903"} xref: SCTID:230333002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1000903", source="MONDO:equivalentTo"} -is_a: MONDO:0005071 {source="EFO:1000903", source="ICD10:G25.71/inferred", source="MESH:D017109/inferred", source="linkedlifedata"} ! nervous system disorder +is_a: MONDO:0005071 {source="EFO:1000903", source="ICD10:G25.71/inferred", source="MESH:D017109/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nervous system disorder relationship: realized_in_response_to_stimulus ECTO:0000509 ! exposure to drug [Term] @@ -116114,7 +117294,7 @@ xref: ICD9:333.99 {source="i2s", source="MONDO:relatedTo"} xref: MedDRA:10013916 {source="EFO:1000904"} xref: MESH:D004409 {source="EFO:1000904", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:102448004 {source="EFO:1000904", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} -is_a: MONDO:0005071 {source="EFO:1000904", source="MESH:D004409/inferred", source="linkedlifedata"} ! nervous system disorder +is_a: MONDO:0005071 {source="EFO:1000904", source="MESH:D004409/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nervous system disorder relationship: realized_in_response_to_stimulus ECTO:0000509 ! exposure to drug [Term] @@ -116201,7 +117381,7 @@ xref: MedDRA:10013957 {source="EFO:1000910"} xref: MESH:D002578 {source="MONDO:ontobio", source="EFO:1000910", source="MONDO:equivalentTo"} xref: SCTID:73391008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1000910", source="MONDO:equivalentTo"} xref: UMLS:C0007868 {source="MONDO:equivalentTo"} -is_a: MONDO:0005039 {source="EFO:1000910"} ! reproductive system disease +is_a: MONDO:0005039 {source="EFO:1000910", source="linkedlifedata/inferred"} ! reproductive system disease [Term] id: MONDO:0006737 @@ -116259,7 +117439,7 @@ xref: SCTID:81143000 {source="DOID:5442"} xref: SCTID:81393009 {source="DOID:5442"} xref: UMLS:C0206671 {source="DOID:5442"} xref: UMLS:C1533161 {source="ONCOTREE:PORO"} -is_a: MONDO:0002531 {source="ONCOTREE:PORO"} ! skin neoplasm +is_a: MONDO:0002531 {source="DOID:5442/inferred", source="EFO:1000912/inferred", source="NCIT:C27273/inferred", source="ONCOTREE:PORO", source="linkedlifedata/inferred"} ! skin neoplasm is_a: MONDO:0021489 {source="NCIT:C27273"} ! benign neoplasm of sweat gland relationship: excluded_subClassOf MONDO:0005506 {source="EFO:1000912"} ! eccrine sweat gland cancer @@ -116310,7 +117490,7 @@ xref: MESH:D004678 {source="EFO:1000915", source="MONDO:ontobio", source="DOID:2 xref: NCIT:C98920 {source="EFO:1000915", source="DOID:2034", source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} xref: SCTID:58762006 {source="EFO:1000915", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2034", source="MONDO:equivalentTo"} xref: UMLS:C0014068 {source="NCIT:C98920", source="DOID:2034", source="MONDO:equivalentTo"} -is_a: MONDO:0005560 {source="DOID:2034", source="EFO:1000915", source="MESH:D004678", source="linkedlifedata"} ! brain disease +is_a: MONDO:0005560 {source="DOID:2034", source="EFO:1000915", source="MESH:D004678", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease [Term] id: MONDO:0006742 @@ -116336,6 +117516,8 @@ xref: SCTID:56805008 {source="EFO:1000916", source="MONDO:kboom-pr-1.00/0.86/15. xref: UMLS:C0018022 {source="NCIT:C35023", source="DOID:13198"} is_a: MONDO:0005397 {source="DOID:13198", source="EFO:1000916", source="MESH:D006043", source="NCIT:C35023", source="linkedlifedata"} ! goiter (disease) is_a: MONDO:0006873 {source="DOID:13198"} ! nutritional deficiency disease +intersection_of: MONDO:0005397 ! goiter (disease) +intersection_of: MONDO:0006873 ! nutritional deficiency disease [Term] id: MONDO:0006743 @@ -116346,6 +117528,8 @@ xref: EFO:1000917 {source="MONDO:equivalentTo"} xref: MESH:D014383 {source="EFO:1000917", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: UMLS:C0041310 {source="MONDO:equivalentTo"} is_a: MONDO:0018076 {source="EFO:1000917", source="MESH:D014383"} ! tuberculosis +intersection_of: MONDO:0018076 ! tuberculosis +intersection_of: disease_has_location UBERON:0002368 ! endocrine gland [Term] id: MONDO:0006744 @@ -116398,9 +117582,9 @@ xref: SCTID:699356008 {source="DOID:4226", source="MONDO:kboom-pr-0.90/0.75/0.53 xref: SCTID:70555003 {source="DOID:4226"} xref: UMLS:C0206630 {source="DOID:4226", source="ORDO:213711/e", source="Orphanet:213711", source="NCIT:C8973", source="MONDO:equivalentTo"} xref: UMLS:C2239246 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0001416 {source="MONDO:Redundant", source="NCIT:C8973"} ! female reproductive organ cancer -is_a: MONDO:0003311 {source="DOID:4226", source="MESH:D018203", source="SCTID:699356008", source="linkedlifedata"} ! endometrial stromal tumor -is_a: MONDO:0005089 {source="EFO:1000919", source="MESH:D018203/inferred", source="NCIT:C8973/inferred", source="linkedlifedata"} ! sarcoma +is_a: MONDO:0001416 {source="DOID:4226/inferred", source="MONDO:Redundant", source="NCIT:C8973", source="linkedlifedata/inferred"} ! female reproductive organ cancer +is_a: MONDO:0003311 {source="DOID:4226", source="MESH:D018203", source="linkedlifedata"} ! endometrial stromal tumor +is_a: MONDO:0005089 {source="EFO:1000919", source="MESH:D018203/inferred", source="NCIT:C8973/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! sarcoma relationship: excluded_subClassOf MONDO:0016253 {source="Orphanet:213711"} ! rare cancer of corpus uteri property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6339/endometrial-stromal-sarcoma xsd:anyURI {source="GARD:0006339"} @@ -116458,7 +117642,7 @@ xref: ICD9:345.70 {source="i2s", source="MONDO:equivalentTo"} xref: MedDRA:10015034 {source="EFO:1000924"} xref: MESH:D017036 {source="MONDO:ontobio", source="MONDO:equivalentTo", source="EFO:1000924"} xref: SCTID:241006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="EFO:1000924"} -is_a: MONDO:0005027 {source="EFO:1000924", source="MESH:D017036/inferred", source="linkedlifedata"} ! epilepsy +is_a: MONDO:0005027 {source="EFO:1000924", source="MESH:D017036/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! epilepsy [Term] id: MONDO:0006749 @@ -116493,8 +117677,8 @@ xref: EFO:1000927 {source="MONDO:equivalentTo"} xref: MESH:D004889 {source="EFO:1000927", source="MONDO:equivalentTo"} xref: SCTID:367434002 {source="MONDO:equivalentTo"} xref: UMLS:C0014736 {source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1000927", source="MESH:D004889/inferred", source="MONDO:Redundant"} ! bacterial infectious disease -is_a: MONDO:0021679 {source="MESH:D004889"} ! gram-positive bacterial infections +is_a: MONDO:0005113 {source="EFO:1000927", source="MESH:D004889/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0021679 {source="MESH:D004889", source="linkedlifedata"} ! gram-positive bacterial infections intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:1647 ! Erysipelothrix @@ -116520,7 +117704,7 @@ xref: ICD9:320.82 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D020814 {source="EFO:1000929", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:192655005 {source="EFO:1000929", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0338395 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006670 {source="EFO:1000929", source="MESH:D020814", source="linkedlifedata"} ! bacterial meningitis +is_a: MONDO:0006670 {source="EFO:1000929", source="MESH:D020814", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial meningitis [Term] id: MONDO:0006754 @@ -116563,6 +117747,7 @@ replaced_by: MONDO:0019025 id: MONDO:0006757 name: extrahepatic cholestasis def: "Impairment of the bile flow caused by an obstruction in the portion of the bile duct system located outside of the liver." [NCIT:P378] +synonym: "cholestasis of extrahepatic bile duct" EXACT [MONDO:design_pattern] synonym: "extrahepatic bile duct cholestasis" EXACT [MONDO:patterns/location] synonym: "extrahepatic biliary stasis" EXACT [DOID:13619, NCIT:C34420] synonym: "extrahepatic cholestasis (finding)" EXACT [DOID:13619, SCTID:20719006] @@ -116576,7 +117761,7 @@ xref: NCIT:C34420 {source="MONDO:otherHierarchy", source="DOID:13619", source="E xref: SCTID:20719006 {source="DOID:13619", source="EFO:1000933"} xref: SCTID:8262006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13619", source="MONDO:equivalentTo"} xref: UMLS:C0005398 {source="DOID:13619", source="MONDO:equivalentTo"} -is_a: MONDO:0001751 {source="MESH:D001651", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! cholestasis +is_a: MONDO:0001751 {source="DOID:13619", source="MESH:D001651", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! cholestasis is_a: MONDO:0006322 {source="EFO:1000933"} ! non-neoplastic bile duct disorder intersection_of: MONDO:0001751 ! cholestasis intersection_of: disease_has_location UBERON:0003703 ! extrahepatic bile duct @@ -116590,7 +117775,7 @@ xref: EFO:1000935 {source="MONDO:equivalentTo"} xref: MedDRA:10061150 {source="EFO:1000935"} xref: MESH:D014384 {source="MONDO:ontobio", source="MONDO:equivalentTo", source="EFO:1000935"} xref: SCTID:74181004 {source="MONDO:equivalentTo", source="EFO:1000935"} -is_a: MONDO:0005039 {source="EFO:1000935"} ! reproductive system disease +is_a: MONDO:0005039 {source="EFO:1000935", source="linkedlifedata/inferred"} ! reproductive system disease [Term] id: MONDO:0006759 @@ -116598,6 +117783,8 @@ name: femoral neuropathy def: "Neuropathy of the femoral nerve." [NCIT:P378] synonym: "femoral nerve dysfunction" EXACT [DOID:4196] synonym: "femoral nerve lesions" EXACT [DOID:4196, SCTID:193146000] +synonym: "femoral nerve peripheral nerve lesion" EXACT [MONDO:design_pattern] +synonym: "peripheral nerve lesion of femoral nerve" EXACT [MONDO:design_pattern] xref: COHD:439807 {source="MONDO:equivalentTo"} xref: DOID:4196 {source="EFO:1000936", source="MONDO:equivalentTo"} xref: EFO:1000936 {source="MONDO:equivalentTo"} @@ -116610,7 +117797,7 @@ xref: SCTID:193146000 {source="DOID:4196"} xref: SCTID:25690000 {source="MONDO:kboom-pr-1.00/0.80/10.04", source="DOID:4196", source="EFO:1000936", source="MONDO:equivalentTo"} xref: UMLS:C0751931 {source="NCIT:C27595", source="DOID:4196", source="MONDO:equivalentTo"} is_a: MONDO:0001397 {source="DOID:4196", source="MESH:D020428"} ! mononeuropathy -is_a: MONDO:0005244 {source="EFO:1000936", source="MONDO:Redundant", source="NCIT:C27595", source="linkedlife", source="linkedlifedata"} ! peripheral neuropathy +is_a: MONDO:0005244 {source="DOID:4196/inferred", source="EFO:1000936", source="MONDO:Redundant", source="NCIT:C27595", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy intersection_of: MONDO:0024334 ! peripheral nerve lesion intersection_of: disease_has_location UBERON:0001267 ! femoral nerve @@ -116672,7 +117859,7 @@ xref: DOID:4671 {source="EFO:1000939", source="MONDO:equivalentTo"} xref: EFO:1000939 {source="MONDO:equivalentTo"} xref: MESH:D005611 {source="EFO:1000939", source="MONDO:ontobio", source="DOID:4671", source="MONDO:equivalentTo"} xref: UMLS:C0016697 {source="DOID:4671", source="MONDO:equivalentTo"} -is_a: MONDO:0002145 {source="DOID:4671"} ! sex differentiation disease +is_a: MONDO:0002145 {source="DOID:4671", source="MESH:D005611/inferred"} ! sex differentiation disease is_a: MONDO:0017975 {source="MESH:D005611"} ! sex chromosome disorder of sex development is_a: MONDO:0024913 {source="MESH:D005611"} ! cattle disease @@ -116712,7 +117899,7 @@ xref: MedDRA:10017538 {source="EFO:1000942"} xref: MESH:D016921 {source="MONDO:ontobio", source="DOID:11608", source="EFO:1000942", source="MONDO:equivalentTo"} xref: SCTID:24321005 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11608", source="EFO:1000942", source="MONDO:equivalentTo"} xref: UMLS:C0085438 {source="DOID:11608", source="MONDO:equivalentTo"} -is_a: MONDO:0004796 {source="EFO:1000942", source="MESH:D016921", source="MONDO:Entailed", source="linkedlifedata"} ! infectious meningitis +is_a: MONDO:0004796 {source="DOID:11608", source="EFO:1000942", source="MESH:D016921", source="MONDO:Entailed", source="linkedlifedata"} ! infectious meningitis intersection_of: MONDO:0004796 ! infectious meningitis intersection_of: realized_in_response_to_stimulus NCBITaxon:4751 ! Fungi @@ -116728,8 +117915,8 @@ xref: ICD9:041.84 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D005674 {source="EFO:1000943"} xref: SCTID:712657002 {source="MONDO:equivalentTo"} xref: UMLS:C4039413 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1000943", source="MONDO:Redundant", source="linkedlife/inferred"} ! bacterial infectious disease -is_a: MONDO:0024389 {source="linkedlife"} ! anaerobic bacteria infectious disease +is_a: MONDO:0005113 {source="EFO:1000943", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0024389 {source="linkedlifedata"} ! anaerobic bacteria infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:848 ! Fusobacterium @@ -116837,14 +118024,14 @@ xref: SCTID:196583001 {source="DOID:1456"} xref: SCTID:45534005 {source="DOID:1456", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000951", source="MONDO:equivalentTo"} xref: UMLS:C0017675 {source="DOID:1456", source="MONDO:equivalentTo"} is_a: MONDO:0001165 {source="DOID:1456", source="MESH:D005928", source="MONDO:Entailed", source="linkedlifedata"} ! tongue disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001723 ! tongue [Term] id: MONDO:0006772 name: glycogen storage disease VIII -def: "An x-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." [MESH:D006015] +def: "An X-linked recessive hepatic glycogen storage disease resulting from lack of expression of phosphorylase-b-kinase activity. Symptoms are relatively mild; hepatomegaly, increased liver glycogen, and decreased leukocyte phosphorylase are present. Liver shrinkage occurs in response to glucagon." [MESH:D006015] subset: gard_rare synonym: "glycogen storage disease 8" RELATED [GARD:0006538] synonym: "glycogen storage disease type VIII" EXACT [DOID:2751, EFO:1000952, MONDORULE:3] @@ -116867,7 +118054,7 @@ xref: SCTID:297255007 {source="DOID:2751"} xref: SCTID:41527003 {source="DOID:2751", source="MONDO:kboom-pr-0.93/0.85/0.09", source="MONDO:equivalentTo"} xref: UMLS:C0017927 {source="DOID:2751", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C0268147 {source="GARD:0006538"} -is_a: MONDO:0002412 {source="DOID:2751", source="EFO:1000952", source="MESH:D006015", source="linkedlifedata"} ! glycogen storage disease +is_a: MONDO:0002412 {source="DOID:2751", source="DOID:2751/inferred", source="EFO:1000952", source="MESH:D006015", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6538/glycogen-storage-disease-8 xsd:anyURI {source="GARD:0006538"} [Term] @@ -116903,7 +118090,7 @@ xref: MedDRA:10018953 {source="EFO:1000955"} xref: MESH:D008583 {source="EFO:1000955", source="MONDO:relatedTo"} xref: SCTID:5900006 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000955", source="MONDO:equivalentTo"} xref: UMLS:C0276028 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004796 {source="EFO:1000955", source="linkedlifedata"} ! infectious meningitis +is_a: MONDO:0004796 {source="EFO:1000955", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious meningitis [Term] id: MONDO:0006776 @@ -116945,7 +118132,7 @@ xref: NCIT:C7602 {source="exact-label-match", source="EFO:1000958", source="MOND xref: SCTID:398028009 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: SCTID:78325005 {source="EFO:1000958"} xref: UMLS:C0474824 {source="NCIT:C7602", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005073 {source="EFO:1000958", source="MESH:D055882", source="NCIT:C7602/inferred", source="linkedlife", source="linkedlifedata"} ! melanocytic nevus +is_a: MONDO:0005073 {source="EFO:1000958", source="MESH:D055882", source="NCIT:C7602/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! melanocytic nevus [Term] id: MONDO:0006779 @@ -116963,7 +118150,7 @@ xref: SCTID:155317009 {source="DOID:9768"} xref: SCTID:194847002 {source="DOID:9768"} xref: SCTID:65340007 {source="MONDO:kboom-pr-1.00/0.80/9.20", source="DOID:9768", source="MONDO:equivalentTo"} xref: UMLS:C0018789 {source="DOID:9768", source="MONDO:equivalentTo"} -is_a: MONDO:0005267 {source="DOID:9768", source="EFO:1000959", source="MESH:D006322", source="linkedlifedata"} ! heart disease +is_a: MONDO:0005267 {source="DOID:9768", source="EFO:1000959", source="MESH:D006322", source="linkedlifedata", source="linkedlifedata/inferred"} ! heart disease [Term] id: MONDO:0006780 @@ -117073,12 +118260,13 @@ xref: SCTID:31912009 {source="DOID:11123"} xref: SCTID:367437009 {source="DOID:11123"} xref: UMLS:C0034152 {source="NCIT:C34963", source="DOID:11123"} is_a: MONDO:0006794 {source="DOID:11123", source="linkedlifedata"} ! hypersensitivity vasculitis -is_a: MONDO:0018882 {source="MESH:D011695", source="NCIT:C34963"} ! vasculitis +is_a: MONDO:0018882 {source="MESH:D011695", source="NCIT:C34963", source="linkedlifedata/inferred"} ! vasculitis [Term] id: MONDO:0006786 name: hepatic vein thrombosis def: "A condition in which the hepatic venous outflow is obstructed anywhere from the small hepatic veins to the junction of the inferior vena cava and the right atrium. Usually the blockage is extrahepatic and caused by blood clots (thrombus) or fibrous webs. Parenchymal fibrosis is uncommon." [MESH:D006502] +synonym: "Budd-Chiari syndrome" RELATED [DOID:11512] synonym: "hepatic vein thrombosis" EXACT [DOID:11512] xref: DOID:11512 {source="EFO:1000966", source="MONDO:equivalentTo"} xref: EFO:1000966 {source="MONDO:equivalentTo"} @@ -117091,7 +118279,7 @@ xref: SCTID:195436007 {source="DOID:11512"} xref: SCTID:38739001 {source="DOID:11512", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1000966", source="MONDO:equivalentTo"} xref: SCTID:82385007 {source="EFO:1000966", source="MONDO:relatedTo"} xref: UMLS:C0019154 {source="DOID:11512"} -is_a: MONDO:0002405 {source="DOID:11512", source="linkedlife", source="linkedlifedata"} ! hepatic vascular disease +is_a: MONDO:0002405 {source="DOID:11512", source="linkedlifedata", source="linkedlifedata/inferred"} ! hepatic vascular disease [Term] id: MONDO:0006787 @@ -117173,7 +118361,7 @@ xref: MedDRA:10020596 {source="EFO:1000970"} xref: MESH:D006936 {source="DOID:12733", source="EFO:1000970", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:78537008 {source="DOID:12733", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1000970", source="MONDO:equivalentTo"} xref: UMLS:C0020441 {source="DOID:12733", source="MONDO:equivalentTo"} -is_a: MONDO:0002220 {source="DOID:12733"} ! teeth hard tissue disease +is_a: MONDO:0002220 {source="DOID:12733", source="ICD10:K03.4", source="linkedlifedata"} ! tooth hard tissue disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6692/hypercementosis xsd:anyURI {source="GARD:0006692"} [Term] @@ -117220,7 +118408,7 @@ xref: SCTID:10649000 {source="DOID:2444", source="MONDO:kboom-pr-1.00/0.85/15.45 xref: SCTID:154698000 {source="DOID:2444"} xref: SCTID:267480001 {source="DOID:2444"} xref: UMLS:C0020506 {source="DOID:2444", source="MONDO:equivalentTo"} -is_a: MONDO:0003381 {source="DOID:2444", source="MESH:D006964", source="linkedlifedata"} ! pituitary gland disease +is_a: MONDO:0003381 {source="DOID:2444", source="MESH:D006964", source="linkedlifedata", source="linkedlifedata/inferred"} ! pituitary gland disease relationship: disease_has_feature HP:0010514 ! Hyperpituitarism relationship: disease_has_location UBERON:0002196 ! adenohypophysis @@ -117244,8 +118432,8 @@ xref: SCTID:195350001 {source="DOID:9809"} xref: SCTID:195352009 {source="DOID:9809"} xref: SCTID:60555002 {source="MONDO:kboom-pr-0.81/0.45/0.95", source="DOID:9809", source="MONDO:equivalentTo"} xref: UMLS:C0151436 {source="NCIT:C82863", source="DOID:9809"} -is_a: MONDO:0000605 {source="EFO:1000974"} ! hypersensitivity reaction disease -is_a: MONDO:0018882 {source="NCIT:C82863"} ! vasculitis +is_a: MONDO:0000605 {source="DOID:9809/inferred", source="EFO:1000974"} ! hypersensitivity reaction disease +is_a: MONDO:0018882 {source="NCIT:C82863", source="linkedlifedata"} ! vasculitis intersection_of: MONDO:0018882 ! vasculitis intersection_of: disease_has_basis_in_disruption_of GO:0002524 ! hypersensitivity relationship: excluded_subClassOf MONDO:0007004 {source="DOID:9809"} ! type III hypersensitivity disease @@ -117269,7 +118457,7 @@ xref: SCTID:154839008 {source="DOID:6376"} xref: SCTID:267570002 {source="DOID:6376"} xref: SCTID:58381000 {source="DOID:6376", source="EFO:1000975", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.86/0.68/0.31"} xref: UMLS:C0020532 {source="DOID:6376", source="MONDO:equivalentTo"} -is_a: MONDO:0002332 {source="DOID:6376", source="ICD10:D73.1", source="MESH:D006971"} ! splenic disease +is_a: MONDO:0002332 {source="DOID:6376", source="ICD10:D73.1", source="MESH:D006971", source="linkedlifedata"} ! splenic disease [Term] id: MONDO:0006796 @@ -117287,7 +118475,7 @@ xref: SCTID:155408008 {source="DOID:9427"} xref: SCTID:195225002 {source="DOID:9427"} xref: SCTID:50490005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:9427", source="EFO:1000976", source="MONDO:equivalentTo"} xref: UMLS:C0151620 {source="NCIT:C3503", source="DOID:9427", source="MONDO:equivalentTo"} -is_a: MONDO:0005560 {source="NCIT:C3503"} ! brain disease +is_a: MONDO:0005560 {source="DOID:9427/inferred", source="MESH:D020343/inferred", source="NCIT:C3503", source="linkedlifedata/inferred"} ! brain disease is_a: MONDO:0006810 {source="DOID:9427", source="MESH:D020343"} ! intracranial hypertension intersection_of: MONDO:0005560 ! brain disease intersection_of: disease_arises_from_feature MONDO:0005044 ! hypertensive disorder @@ -117330,7 +118518,7 @@ xref: MedDRA:10020916 {source="EFO:1000978"} xref: MESH:D006986 {source="MONDO:ontobio", source="DOID:9972", source="EFO:1000978", source="MONDO:equivalentTo"} xref: SCTID:64559002 {source="MONDO:kboom-pr-0.90/0.76/0.49", source="DOID:9972", source="EFO:1000978", source="MONDO:equivalentTo"} xref: UMLS:C0020579 {source="DOID:9972", source="MONDO:equivalentTo"} -is_a: MONDO:0003916 {source="DOID:9972", source="linkedlifedata"} ! overnutrition +is_a: MONDO:0003916 {source="DOID:9972", source="linkedlifedata", source="linkedlifedata/inferred"} ! overnutrition relationship: disease_disrupts GO:0006776 ! vitamin A metabolic process [Term] @@ -117428,7 +118616,7 @@ xref: NCIT:C3988 {source="DOID:3401", source="MONDO:kboom-pr-1.00/0.91/29.66", s xref: SCTID:389983008 {source="DOID:3401"} xref: SCTID:55004003 {source="DOID:3401", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0021141 {source="DOID:3401", source="NCIT:C3988"} -is_a: MONDO:0003381 {source="DOID:3401", source="MESH:D007177", source="linkedlifedata"} ! pituitary gland disease +is_a: MONDO:0003381 {source="DOID:3401", source="MESH:D007177", source="linkedlifedata", source="linkedlifedata/inferred"} ! pituitary gland disease [Term] id: MONDO:0006803 @@ -117528,7 +118716,7 @@ xref: SCTID:308126005 {source="DOID:12732"} xref: SCTID:314429009 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000986", source="DOID:12732", source="MONDO:equivalentTo"} xref: SCTID:398322000 {source="DOID:12732"} xref: UMLS:C0042166 {source="NCIT:C35110", source="ORDO:279914/e", source="Orphanet:279914", source="DOID:12732", source="MONDO:equivalentTo"} -is_a: MONDO:0020283 {source="DOID:12732", source="EFO:1000986", source="MESH:D015867", source="NCIT:C35110", source="Orphanet:279914", source="linkedlifedata"} ! uveitis (disease) +is_a: MONDO:0020283 {source="DOID:12732", source="EFO:1000986", source="MESH:D015867", source="NCIT:C35110", source="Orphanet:279914", source="linkedlifedata", source="linkedlifedata/inferred"} ! uveitis (disease) [Term] id: MONDO:0006807 @@ -117632,7 +118820,7 @@ xref: NCIT:C3804 {source="EFO:1000995", source="exact-label-match", source="MOND xref: SCTID:112681002 {source="EFO:1000995"} xref: SCTID:302838006 {source="MONDO:equivalentTo"} xref: UMLS:C0206737 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3804", source="MONDO:equivalentTo"} -is_a: MONDO:0005073 {source="EFO:1000995", source="MESH:D018330", source="NCIT:C3804/inferred"} ! melanocytic nevus +is_a: MONDO:0005073 {source="EFO:1000995", source="MESH:D018330", source="NCIT:C3804/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! melanocytic nevus [Term] id: MONDO:0006814 @@ -117647,7 +118835,7 @@ xref: MESH:D007500 {source="MONDO:ontobio", source="DOID:1406", source="EFO:1000 xref: NCIT:C50621 {source="DOID:1406", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1000997", source="MONDO:equivalentTo"} xref: SCTID:65074000 {source="MONDO:kboom-pr-0.97/0.85/1.79", source="DOID:1406", source="EFO:1000997", source="MONDO:equivalentTo"} xref: UMLS:C0022081 {source="NCIT:C50621", source="DOID:1406", source="MONDO:equivalentTo"} -is_a: MONDO:0002289 {source="DOID:1406", source="MESH:D007500"} ! iris disease +is_a: MONDO:0002289 {source="DOID:1406", source="MESH:D007500", source="linkedlifedata"} ! iris disease [Term] id: MONDO:0006815 @@ -117668,7 +118856,7 @@ xref: MESH:D007580 {source="EFO:1000998", source="MONDO:subClassOf", source="DOI xref: SCTID:363404008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:13499", source="MONDO:equivalentTo"} xref: SCTID:93846004 {source="DOID:13499"} xref: UMLS:C0153427 {source="DOID:13499", source="MONDO:equivalentTo"} -is_a: MONDO:0000956 {source="MONDO:Entailed", source="MONDO:cjm"} ! small intestine cancer +is_a: MONDO:0000956 {source="DOID:13499", source="MONDO:Entailed", source="MONDO:cjm"} ! small intestine cancer is_a: MONDO:0002564 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-10", source="linkedlifedata"} ! jejunal neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002115 ! jejunum @@ -117723,6 +118911,7 @@ synonym: "joint disease" RELATED [] synonym: "Joint disorder" EXACT [NCIT:C35760] synonym: "joint disorder" RELATED [] synonym: "skeletal joint disease" EXACT [MONDO:patterns/location] +synonym: "skeletal joint disease or disorder" EXACT [MONDO:design_pattern] xref: COHD:73553 {source="MONDO:equivalentTo"} xref: DOID:381 {source="EFO:1000999", source="MONDO:equivalentTo"} xref: EFO:1000999 {source="MONDO:equivalentTo"} @@ -117779,7 +118968,7 @@ xref: SCTID:83486002 {source="DOID:381"} xref: SCTID:90242006 {source="MONDO:kboom-pr-0.90/0.75/0.52"} xref: UMLS:C0022408 {source="DOID:381", source="NCIT:C35760", source="MONDO:equivalentTo"} xref: UMLS:C0157749 {source="DOID:381"} -is_a: MONDO:0002081 {source="MESH:D007592", source="MONDO:Redundant", source="linkedlife"} ! musculoskeletal system disease +is_a: MONDO:0002081 {source="DOID:381/inferred", source="MESH:D007592", source="MONDO:Redundant", source="linkedlifedata"} ! musculoskeletal system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000982 ! skeletal joint relationship: excluded_subClassOf MONDO:0002614 {source="DOID:381"} ! bone inflammation disease @@ -117924,7 +119113,7 @@ xref: UMLS:C0022735 {source="MEDGEN:kboom-pr98-c99", source="DOID:1921", source= is_a: MONDO:0015652 {source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature is_a: MONDO:0017001 {source="MONDO:cjm"} ! X chromosome number anomaly with male phenotype is_a: MONDO:0017975 {source="MONDO:cjm"} ! sex chromosome disorder of sex development -is_a: MONDO:0019040 {source="DOID:1921", source="linkedlife/inferred"} ! chromosomal anomaly +is_a: MONDO:0019040 {source="DOID:1921", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! chromosomal anomaly is_a: MONDO:0020090 {source="MONDO:cjm"} ! male infertility due to gonadal dysgenesis relationship: disease_has_feature HP:0000027 {source="Wikidata"} ! Azoospermia @@ -118010,6 +119199,7 @@ id: MONDO:0006828 name: nasal cavity and paranasal sinus lethal midline granuloma def: "An aggressive, progressive, and destructive lesion affecting the nasal cavities, paranasal sinuses, and the palate. The vast majority of cases are malignant lymphoproliferations affecting the midline of the face in patients with nasal type extranodal NK/T-cell lymphoma." [NCIT:C8196] comment: Editor note: TODO granuloma DP +synonym: "lethal midline granuloma" RELATED [DOID:9072] synonym: "malignant granuloma of face" EXACT [DOID:9072, MTHICD9_2006:446.3] synonym: "midfacial Necrotising lesion" EXACT [DOID:9072, NCIT:C8196] synonym: "Midline lethal granuloma of nasal cavity and paranasal sinus" EXACT [NCIT:C8196] @@ -118067,7 +119257,7 @@ xref: SCTID:198019005 {source="DOID:8738"} xref: SCTID:266639006 {source="DOID:8738"} xref: SCTID:3323003 {source="DOID:8738", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1001015", source="MONDO:equivalentTo"} xref: UMLS:C0022782 {source="DOID:8738", source="NCIT:C3151", source="MONDO:equivalentTo"} -is_a: MONDO:0002036 {source="DOID:8738"} ! penile disease +is_a: MONDO:0002036 {source="DOID:8738", source="linkedlifedata", source="linkedlifedata/inferred"} ! penile disease intersection_of: MONDO:0043243 ! leukoplakia intersection_of: disease_has_location UBERON:0000989 ! penis @@ -118098,7 +119288,7 @@ xref: SCTID:128459005 {source="DOID:1577"} xref: SCTID:298285004 {source="DOID:1577", source="MONDO:directSiblingOf"} xref: SCTID:299276009 {source="DOID:1577", source="MONDO:kboom-pr-0.67/0.33/0.09", source="EFO:1001017", source="MONDO:equivalentTo"} xref: UMLS:C0748540 {source="DOID:1577", source="MONDO:equivalentTo"} -is_a: MONDO:0005100 {source="DOID:1577", source="EFO:1001017", source="MESH:D045745", source="MONDOLEX:0006832", source="linkedlife"} ! systemic sclerosis +is_a: MONDO:0005100 {source="DOID:1577", source="EFO:1001017", source="MESH:D045745", source="MONDOLEX:0006832", source="linkedlifedata"} ! systemic sclerosis [Term] id: MONDO:0006833 @@ -118184,9 +119374,9 @@ xref: SCTID:93869001 {source="DOID:8564"} xref: UMLS:C0153340 {source="DOID:8564", source="NCIT:C7485"} xref: UMLS:C0153346 {source="DOID:8564"} xref: UMLS:C0153347 {source="DOID:8564"} -is_a: MONDO:0004748 {source="DOID:8564", source="MESH:D008048", source="MONDO:Redundant", source="NCIT:C7485/inferred", source="linkedlifedata"} ! lip disease -is_a: MONDO:0005515 {source="DOID:8564", source="EFO:1001019", source="linkedlife"} ! oral cavity cancer -is_a: MONDO:0021249 {source="MONDO:Entailed", source="NCIT:C7485", source="OWLReasoner:Elk-2018-01-09"} ! lip neoplasm +is_a: MONDO:0004748 {source="DOID:8564", source="MESH:D008048", source="MONDO:Redundant", source="NCIT:C7485/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lip disease +is_a: MONDO:0005515 {source="DOID:8564", source="EFO:1001019", source="linkedlifedata"} ! oral cavity cancer +is_a: MONDO:0021249 {source="MONDO:Entailed", source="NCIT:C7485", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata/inferred"} ! lip neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001833 ! lip @@ -118216,7 +119406,7 @@ xref: SCTID:197592009 {source="DOID:10966"} xref: SCTID:44785005 {source="EFO:1001020", source="MONDO:kboom-pr-0.92/0.83/0.15", source="DOID:10966", source="MONDO:equivalentTo"} xref: UMLS:C0027721 {source="DOID:10966", source="MONDO:equivalentTo"} xref: UMLS:C1704320 {source="NCIT:C34844"} -is_a: MONDO:0002462 {source="DOID:10966", source="MONDOLEX:0006835", source="NCIT:C34844", source="linkedlifedata"} ! glomerulonephritis (disease) +is_a: MONDO:0002462 {source="DOID:10966", source="MONDOLEX:0006835", source="NCIT:C34844", source="linkedlifedata", source="linkedlifedata/inferred"} ! glomerulonephritis (disease) relationship: excluded_subClassOf MONDO:0005377 {source="DOID:10966"} ! nephrotic syndrome [Term] @@ -118287,7 +119477,7 @@ xref: MedDRA:10025143 {source="EFO:1001023"} xref: MESH:D008177 {source="EFO:1001023", source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: SCTID:10528009 {source="EFO:1001023", source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0024131 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0018076 {source="EFO:1001023", source="MESH:D008177/inferred", source="linkedlifedata"} ! tuberculosis +is_a: MONDO:0018076 {source="EFO:1001023", source="MESH:D008177/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! tuberculosis [Term] id: MONDO:0006839 @@ -118335,7 +119525,7 @@ xref: NCIT:C3203 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equival xref: SCTID:403975006 {source="MONDO:equivalentTo"} xref: UMLS:C0024217 {source="NCIT:C3203"} is_a: MONDO:0002013 {source="NCIT:C3203"} ! lymphangioma -is_a: MONDO:0005070 {source="EFO:1001026", source="MONDO:Redundant", source="NCIT:C3203/inferred"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="EFO:1001026", source="MONDO:Redundant", source="NCIT:C3203/inferred", source="linkedlifedata/inferred"} ! neoplasm (disease) [Term] id: MONDO:0006842 @@ -118364,7 +119554,7 @@ xref: NCIT:C34795 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:7633", xref: SCTID:193388002 {source="DOID:7633"} xref: SCTID:232006002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:7633", source="MONDO:equivalentTo"} xref: UMLS:C0024441 {source="NCIT:C34795", source="DOID:7633", source="MONDO:equivalentTo"} -is_a: MONDO:0005283 {source="DOID:7633", source="linkedlifedata"} ! retinal disease +is_a: MONDO:0005283 {source="DOID:7633", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinal disease [Term] id: MONDO:0006844 @@ -118377,7 +119567,7 @@ xref: MedDRA:10025433 {source="EFO:1001029"} xref: MESH:D008275 {source="MONDO:ontobio", source="EFO:1001029", source="MONDO:equivalentTo"} xref: SCTID:238118002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1001029", source="MONDO:equivalentTo"} xref: UMLS:C0024473 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006873 {source="EFO:1001029", source="MESH:D008275", source="linkedlifedata"} ! nutritional deficiency disease +is_a: MONDO:0006873 {source="EFO:1001029", source="MESH:D008275", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease [Term] id: MONDO:0006845 @@ -118395,9 +119585,9 @@ xref: MedDRA:10061234 {source="EFO:1001030"} xref: MESH:D014389 {source="MONDO:ontobio", source="EFO:1001030", source="MONDO:equivalentTo"} xref: SCTID:240379005 {source="EFO:1001030", source="MONDO:equivalentTo"} xref: UMLS:C0041317 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003150 {source="MESH:D014389", source="MONDO:Redundant"} ! male reproductive system disease -is_a: MONDO:0006002 {source="MESH:D014389"} ! urogenital tuberculosis -is_a: MONDO:0018076 {source="EFO:1001030", source="MESH:D014389/inferred", source="MONDO:Redundant"} ! tuberculosis +is_a: MONDO:0003150 {source="MESH:D014389", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! male reproductive system disease +is_a: MONDO:0006002 {source="MESH:D014389", source="linkedlifedata/inferred"} ! urogenital tuberculosis +is_a: MONDO:0018076 {source="EFO:1001030", source="MESH:D014389/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! tuberculosis is_a: MONDO:0018396 {source="Orphanet:3389-moved"} ! rare male fertility disorder with obstructive azoospermia intersection_of: MONDO:0018076 ! tuberculosis intersection_of: disease_has_location UBERON:0000079 ! male reproductive system @@ -118420,7 +119610,7 @@ xref: SCTID:286951002 {source="DOID:10824"} xref: SCTID:70272006 {source="EFO:1001031", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:10824", source="MONDO:equivalentTo"} xref: UMLS:C0020540 {source="DOID:10824", source="MONDO:equivalentTo"} xref: UMLS:C0745136 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0005044 {source="DOID:10824", source="EFO:1001031", source="MESH:D006974", source="linkedlifedata"} ! hypertensive disorder +is_a: MONDO:0005044 {source="DOID:10824", source="EFO:1001031", source="MESH:D006974", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypertensive disorder [Term] id: MONDO:0006847 @@ -118476,9 +119666,9 @@ xref: SCTID:266644004 {source="DOID:10690"} xref: SCTID:45198002 {source="EFO:1001034", source="DOID:10690", source="MONDO:kboom-pr-0.96/0.68/2.67", source="MONDO:equivalentTo"} xref: UMLS:C0024894 {source="NCIT:C53662", source="DOID:10690", source="MONDO:equivalentTo"} xref: UMLS:C0392317 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0002657 {source="DOID:10690", source="MESH:D008413", source="MONDO:Entailed", source="NCIT:C53662/inferred", source="linkedlife", source="linkedlifedata"} ! breast disease +is_a: MONDO:0002657 {source="DOID:10690", source="MESH:D008413", source="MONDO:Entailed", source="NCIT:C53662/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! breast disease is_a: MONDO:0005039 {source="EFO:1001034"} ! reproductive system disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000310 ! breast @@ -118593,7 +119783,7 @@ xref: NCIT:C3233 {source="EFO:1001042", source="DOID:2668", source="MONDO:equiva xref: SCTID:189809007 {source="DOID:2668"} xref: SCTID:44524009 {source="EFO:1001042", source="DOID:2668"} xref: UMLS:C0025464 {source="NCIT:C3233", source="DOID:2668", source="MONDO:equivalentTo"} -is_a: MONDO:0005070 {source="EFO:1001042/inferred", source="MESH:D008637/inferred", source="NCIT:C3233/inferred"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="DOID:2668/inferred", source="EFO:1001042/inferred", source="MESH:D008637/inferred", source="NCIT:C3233/inferred"} ! neoplasm (disease) [Term] id: MONDO:0006855 @@ -118639,6 +119829,7 @@ def: "A disease involving the mouth." [MONDO:DesignPattern] synonym: "disease of mouth" EXACT [MONDO:patterns/location_top] synonym: "disorder of mouth" RELATED [MONDO:patterns/location_top] synonym: "mouth disease" EXACT [MONDO:patterns/location] +synonym: "mouth disease or disorder" EXACT [MONDO:design_pattern] synonym: "oral disease" EXACT [NCIT:C3240] synonym: "oral Disorder" EXACT [NCIT:C3240] xref: DOID:403 {source="EFO:1001047", source="MONDO:equivalentTo"} @@ -118651,7 +119842,7 @@ xref: SCTID:118938008 {source="EFO:1001047", source="DOID:403", source="MONDO:eq xref: SCTID:155630004 {source="DOID:403"} xref: SCTID:266484002 {source="DOID:403"} xref: UMLS:C0026636 {source="DOID:403", source="MONDO:equivalentTo"} -is_a: MONDO:0021199 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! disease by anatomical system +is_a: MONDO:0021199 {source="DOID:403/inferred", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! disease by anatomical system intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000165 ! mouth @@ -118741,7 +119932,7 @@ xref: MedDRA:10048780 {source="EFO:1001054"} xref: MESH:D009209 {source="EFO:1001054", source="MONDO:ontobio", source="DOID:431", source="MONDO:equivalentTo"} xref: SCTID:24693007 {source="EFO:1001054", source="MONDO:kboom-pr-1.00/0.75/6.74", source="MONDO:equivalentTo"} xref: UMLS:C0027073 {source="DOID:431", source="MONDO:equivalentTo"} -is_a: MONDO:0005336 {source="DOID:431", source="EFO:1001054", source="linkedlifedata"} ! myopathy +is_a: MONDO:0005336 {source="DOID:431", source="EFO:1001054", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopathy [Term] id: MONDO:0006863 @@ -118757,9 +119948,9 @@ xref: MESH:D009236 {source="EFO:1001056", source="MONDO:ontobio", source="DOID:4 xref: NCIT:C3255 {source="EFO:1001056", source="DOID:4136", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:28351005 {source="EFO:1001056", source="DOID:4136"} xref: UMLS:C0027155 {source="DOID:4136", source="NCIT:C3255", source="MONDO:equivalentTo"} -is_a: MONDO:0002176 {source="DOID:4136"} ! connective tissue cancer is_a: MONDO:0005089 {source="EFO:1001056", source="MESH:D009236", source="MONDO:Redundant", source="NCIT:C3255/inferred"} ! sarcoma is_a: MONDO:0018078 {source="NCIT:C3255"} ! soft tissue sarcoma +relationship: excluded_subClassOf MONDO:0002176 {source="DOID:4136"} ! connective tissue cancer [Term] id: MONDO:0006864 @@ -118924,7 +120115,7 @@ xref: MESH:D021184 {source="EFO:1001066", source="DOID:4379", source="MONDO:equi xref: SCTID:395654004 {source="DOID:4379"} xref: SCTID:91934008 {source="DOID:4379", source="MONDO:equivalentTo"} xref: UMLS:C0577620 {source="DOID:4379", source="MONDO:equivalentTo"} -is_a: MONDO:0002497 {source="DOID:4379", source="EFO:1001066", source="MESH:D021184"} ! food allergy +is_a: MONDO:0002497 {source="DOID:4379", source="EFO:1001066", source="MESH:D021184", source="linkedlifedata"} ! food allergy intersection_of: MONDO:0005271 ! allergic disease intersection_of: realized_in_response_to_stimulus FOODON:03400685 ! 022 tree nuts (tn) (ccpr) @@ -118944,7 +120135,7 @@ xref: NCIT:C3669 {source="MONDO:equivalentTo"} xref: SCTID:363246002 {source="MONDO:equivalentTo"} xref: SCTID:70241007 {source="EFO:1001067", source="MONDO:equivalentTo"} xref: UMLS:C0011156 {source="DOID:5113"} -is_a: MONDO:0005137 {source="DOID:5113", source="EFO:1001067", source="MESH:D003677/inferred", source="linkedlifedata"} ! nutritional disorder +is_a: MONDO:0005137 {source="DOID:5113", source="EFO:1001067", source="MESH:D003677/inferred", source="NCIT:C3669", source="linkedlifedata"} ! nutritional disorder [Term] id: MONDO:0006874 @@ -119020,8 +120211,8 @@ xref: SCTID:198148002 {source="DOID:10974"} xref: SCTID:266648001 {source="DOID:10974"} xref: SCTID:76047005 {source="DOID:10974", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1001071", source="MONDO:equivalentTo"} xref: UMLS:C0029051 {source="DOID:10974", source="MONDO:equivalentTo"} -is_a: MONDO:0005558 {source="DOID:10974", source="EFO:1001071", source="MESH:D009869", source="MONDO:Entailed"} ! ovarian disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0005558 {source="DOID:10974", source="EFO:1001071", source="MESH:D009869", source="MONDO:Entailed", source="linkedlifedata"} ! ovarian disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000992 ! ovary @@ -119110,9 +120301,9 @@ xref: UMLS:C0030353 {source="DOID:10175"} xref: UMLS:C0155288 {source="DOID:10175"} xref: UMLS:C0242420 {source="DOID:10175"} xref: UMLS:C0919308 {source="DOID:10175"} -is_a: MONDO:0005283 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! retinal disease +is_a: MONDO:0005283 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinal disease is_a: MONDO:0005885 {source="DOID:10175", source="linkedlifedata"} ! optic neuritis -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001783 ! optic disc @@ -119146,7 +120337,7 @@ xref: NCIT:C99000 {source="EFO:1001076", source="MONDO:kboom-pr-1.00/0.92/31.20" xref: SCTID:194005002 {source="EFO:1001076", source="MONDO:kboom-pr-1.00/0.91/29.10", source="DOID:11234", source="MONDO:equivalentTo"} xref: UMLS:C0149507 {source="NCIT:C99000", source="DOID:11234", source="MONDO:equivalentTo"} is_a: MONDO:0001230 {source="DOID:11234"} ! acute orbital inflammation -is_a: MONDO:0005230 {source="EFO:1001076", source="MESH:D054517", source="NCIT:C99000", source="linkedlifedata"} ! cellulitis (disease) +is_a: MONDO:0005230 {source="EFO:1001076", source="MESH:D054517", source="NCIT:C99000", source="linkedlifedata", source="linkedlifedata/inferred"} ! cellulitis (disease) [Term] id: MONDO:0006882 @@ -119173,7 +120364,7 @@ xref: SCTID:297229006 {source="DOID:2518"} xref: SCTID:367112009 {source="DOID:2518"} xref: UMLS:C0029191 {source="NCIT:C97145", source="DOID:2518", source="MONDO:equivalentTo"} is_a: MONDO:0002329 {source="DOID:2518", source="MESH:D009920", source="MONDO:Entailed", source="NCIT:C97145/inferred", source="linkedlifedata"} ! testicular disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000473 ! testis @@ -119194,6 +120385,7 @@ synonym: "Pancoast's syndrome" RELATED [DOID:8007, SCTID:187860004] synonym: "Pancoast's tumor" EXACT [NCIT:C7527] synonym: "Pancoast's tumour" EXACT [DOID:8007, SCTID:154486000] synonym: "pulmonary sulcus tumor" EXACT [DOID:8007] +synonym: "Superior pulmonary sulcus syndrome" EXACT [DOID:8007] synonym: "Superior pulmonary sulcus syndrome (disorder) [ambiguous]" RELATED [DOID:8007, SCTID:80367008] synonym: "superior sulcus tumor" RELATED [] xref: DOID:8007 {source="EFO:1001080", source="MONDO:equivalentTo"} @@ -119211,7 +120403,7 @@ xref: SCTID:80367008 {source="DOID:8007"} xref: UMLS:C0030271 {source="DOID:8007", source="MONDO:relatedTo"} xref: UMLS:C0549471 {source="NCIT:C7527", source="DOID:8007", source="MONDO:equivalentTo"} xref: UMLS:C1335574 {source="DOID:8007"} -is_a: MONDO:0008903 {source="NCIT:C7527", source="linkedlife/inferred"} ! lung cancer +is_a: MONDO:0008903 {source="DOID:8007", source="NCIT:C7527", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung cancer is_a: MONDO:0024813 {source="NCIT:C7527"} ! pulmonary sulcus neoplasm intersection_of: MONDO:0024813 ! pulmonary sulcus neoplasm intersection_of: has_modifier PATO:0002097 ! neoplastic, malignant @@ -119285,7 +120477,7 @@ xref: SCTID:280483007 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:126 xref: SCTID:37518008 {source="DOID:1260"} xref: UMLS:C0030455 {source="DOID:1260", source="MONDO:equivalentTo"} is_a: MONDO:0000922 {source="DOID:1260", source="MESH:D010249"} ! pelvic inflammatory disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0010391 ! parametrium @@ -119304,9 +120496,9 @@ xref: SCTID:21361000119109 {source="DOID:8681"} xref: SCTID:77659000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.26", source="DOID:8681"} xref: UMLS:C0270932 {source="NCIT:C3981", source="MONDO:equivalentTo", source="DOID:8681"} is_a: MONDO:0001824 {source="MESH:D020364", source="MONDO:Entailed", source="MONDOLEX:0006888", source="NCIT:C3981"} ! polyneuropathy -is_a: MONDO:0002336 {source="DOID:8681"} ! inflammatory and toxic neuropathy intersection_of: MONDO:0001824 ! polyneuropathy intersection_of: MONDO:0021073 ! paraneoplastic syndrome +relationship: excluded_subClassOf MONDO:0002336 {source="DOID:8681"} ! inflammatory and toxic neuropathy [Term] id: MONDO:0006889 @@ -119341,8 +120533,8 @@ xref: MESH:D010282 {source="EFO:1001087", source="DOID:7608"} xref: NCIT:C3916 {source="MONDO:equivalentTo", source="DOID:7608"} xref: SCTID:128474007 {source="EFO:1001087", source="MONDO:kboom-pr-0.98/0.92/1.96", source="MONDO:equivalentTo", source="DOID:7608"} xref: UMLS:C0262587 {source="MONDO:equivalentTo", source="NCIT:C3916", source="DOID:7608"} -is_a: MONDO:0000627 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C3916", source="linkedlifedata"} ! benign endocrine neoplasm -is_a: MONDO:0001223 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C3916/inferred", source="linkedlifedata"} ! parathyroid gland disease +is_a: MONDO:0000627 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C3916", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign endocrine neoplasm +is_a: MONDO:0001223 {source="DOID:7608", source="MONDO:Redundant", source="NCIT:C3916/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! parathyroid gland disease is_a: MONDO:0004972 {source="DOID:7608", source="MONDO:Entailed", source="NCIT:C3916", source="linkedlifedata"} ! adenoma is_a: MONDO:0021463 {source="MONDO:Entailed", source="NCIT:C3916", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of parathyroid gland intersection_of: MONDO:0004972 ! adenoma @@ -119397,8 +120589,8 @@ xref: DOID:11056 {source="EFO:1001091", source="MONDO:obsolete"} xref: EFO:1001091 {source="MONDO:equivalentTo"} xref: MESH:D006483 {source="EFO:1001091", source="MONDO:equivalentTo"} xref: SCTID:198462004 {source="EFO:1001091", source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1001091", source="MESH:D006483/inferred", source="MONDO:0006893/inferred", source="MONDO:Redundant", source="MONDOLEX:0006893/inferred"} ! bacterial infectious disease -is_a: MONDO:0005901 {source="MESH:D006483", source="MONDO:Entailed"} ! pasteurellosis +is_a: MONDO:0005113 {source="EFO:1001091", source="MESH:D006483/inferred", source="MONDO:0006893/inferred", source="MONDO:Redundant", source="MONDOLEX:0006893/inferred", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0005901 {source="MESH:D006483", source="MONDO:Entailed", source="linkedlifedata/inferred"} ! pasteurellosis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_feature HP:0100806 ! Sepsis intersection_of: realized_in_response_to_stimulus NCBITaxon:747 ! Pasteurella multocida @@ -119413,7 +120605,7 @@ xref: MedDRA:10049143 {source="EFO:1001092"} xref: MESH:D046788 {source="MONDO:ontobio", source="DOID:14284", source="EFO:1001092", source="MONDO:equivalentTo"} xref: SCTID:430725003 {source="EFO:1001092", source="MONDO:equivalentTo"} xref: UMLS:C0877149 {source="DOID:14284", source="MONDO:equivalentTo"} -is_a: MONDO:0006816 {source="DOID:14284", source="EFO:1001092", source="MESH:D046788"} ! arthropathy +is_a: MONDO:0006816 {source="DOID:14284", source="EFO:1001092", source="MESH:D046788", source="linkedlifedata/inferred"} ! arthropathy relationship: disease_has_location UBERON:0011166 ! patellofemoral joint [Term] @@ -119438,7 +120630,7 @@ xref: MESH:D010412 {source="DOID:11624", source="EFO:1001094", source="MONDO:equ xref: NCIT:C3317 {source="DOID:11624", source="EFO:1001094", source="MONDO:equivalentTo"} xref: SCTID:126896003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11624", source="MONDO:equivalentTo"} xref: UMLS:C0030849 {source="NCIT:C3317", source="DOID:11624", source="MONDO:equivalentTo"} -is_a: MONDO:0002036 {source="MESH:D010412", source="MONDO:Entailed", source="NCIT:C3317"} ! penile disease +is_a: MONDO:0002036 {source="DOID:11624", source="MESH:D010412", source="MONDO:Entailed", source="NCIT:C3317", source="linkedlifedata"} ! penile disease is_a: MONDO:0006054 {source="EFO:1001094", source="MONDO:Entailed", source="NCIT:C3317/inferred"} ! reproductive system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000989 ! penis @@ -119462,7 +120654,7 @@ xref: SCTID:54856001 {source="DOID:13976"} xref: SCTID:57643001 {source="DOID:13976", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.95/0.76/2.02", source="EFO:1001095"} xref: UMLS:C0014869 {source="DOID:13976", source="MONDO:equivalentTo"} is_a: MONDO:0001409 {source="DOID:13976", source="MESH:D004942"} ! esophagitis (disease) -is_a: MONDO:0004247 {source="DOID:13976"} ! peptic ulcer disease +is_a: MONDO:0004247 {source="DOID:13976", source="MESH:D004942"} ! peptic ulcer disease [Term] id: MONDO:0006897 @@ -119507,7 +120699,7 @@ xref: MedDRA:10034504 {source="EFO:1001098"} xref: MESH:D010497 {source="EFO:1001098", source="MONDO:ontobio", source="DOID:3671", source="MONDO:equivalentTo"} xref: SCTID:22240003 {source="EFO:1001098", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:3671", source="MONDO:equivalentTo"} xref: UMLS:C0031055 {source="DOID:3671", source="MONDO:equivalentTo"} -is_a: MONDO:0002021 {source="DOID:3671", source="MESH:D010497", source="linkedlifedata"} ! gingival disease +is_a: MONDO:0002021 {source="DOID:3671", source="MESH:D010497", source="linkedlifedata", source="linkedlifedata/inferred"} ! gingival disease is_a: MONDO:0005076 {source="EFO:1001098"} ! periodontitis [Term] @@ -119523,7 +120715,7 @@ xref: MESH:D010501 {source="EFO:1001099", source="MONDO:ontobio", source="DOID:2 xref: SCTID:111404004 {source="EFO:1001099", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:2982", source="MONDO:equivalentTo"} xref: UMLS:C0031065 {source="DOID:2982", source="MONDO:equivalentTo"} is_a: MONDO:0005240 {source="DOID:2982", source="EFO:1001099", source="MESH:D010501", source="linkedlifedata"} ! kidney disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0005406 ! perirenal fat @@ -119543,7 +120735,7 @@ xref: MESH:D010534 {source="EFO:1001100", source="MONDO:equivalentTo"} xref: NCIT:C3322 {source="EFO:1001100", source="MONDO:equivalentTo"} xref: SCTID:126865007 {source="MONDO:equivalentTo"} xref: UMLS:C0031149 {source="NCIT:C3322"} -is_a: MONDO:0005070 {source="EFO:1001100", source="MESH:D010534/inferred", source="MONDO:Entailed", source="MONDOLEX:0006901", source="NCIT:C3322/inferred"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="EFO:1001100", source="MESH:D010534/inferred", source="MONDO:Entailed", source="MONDOLEX:0006901", source="NCIT:C3322/inferred", source="linkedlifedata/inferred"} ! neoplasm (disease) intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0002358 ! peritoneum @@ -119569,7 +120761,7 @@ xref: NCIT:C27061 {source="EFO:1001102", source="MONDO:kboom-pr-1.00/0.93/31.20" xref: SCTID:34553007 {source="DOID:6925"} xref: SCTID:399088004 {source="EFO:1001102", source="MONDO:equivalentTo"} xref: UMLS:C0270810 {source="NCIT:C27061", source="DOID:6925", source="MONDO:equivalentTo"} -is_a: MONDO:0003620 {source="DOID:6925", source="NCIT:C27061/inferred"} ! peripheral nervous system disease +is_a: MONDO:0003620 {source="DOID:6925", source="NCIT:C27061/inferred", source="linkedlifedata/inferred"} ! peripheral nervous system disease [Term] id: MONDO:0006904 @@ -119591,7 +120783,7 @@ xref: SCTID:266571009 {source="DOID:2712"} xref: SCTID:449826002 {source="EFO:1001104", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2712", source="MONDO:equivalentTo"} xref: SCTID:52743003 {source="DOID:2712"} xref: UMLS:C0031538 {source="NCIT:C26852", source="DOID:2712"} -is_a: MONDO:0002036 {source="DOID:2712", source="MESH:D010688", source="NCIT:C26852/inferred"} ! penile disease +is_a: MONDO:0002036 {source="DOID:2712", source="MESH:D010688", source="NCIT:C26852/inferred", source="linkedlifedata/inferred"} ! penile disease [Term] id: MONDO:0006905 @@ -119604,14 +120796,16 @@ xref: MESH:D018331 {source="EFO:1001105", source="MONDO:equivalentTo"} xref: NCIT:C4751 {source="EFO:1001105", source="exact-label-match", source="MONDO:equivalentTo"} xref: SCTID:254812004 {source="MONDO:equivalentTo"} xref: UMLS:C0474967 {source="NCIT:C4751"} -is_a: MONDO:0005073 {source="EFO:1001105", source="NCIT:C4751/inferred"} ! melanocytic nevus +is_a: MONDO:0005073 {source="EFO:1001105", source="MESH:D018331/inferred", source="NCIT:C4751/inferred", source="linkedlifedata/inferred"} ! melanocytic nevus [Term] id: MONDO:0006906 name: pigmented villonodular synovitis +alt_id: MONDO:0004916 def: "Pigmented villonodular synovitis (PVNS) is a rare benign proliferative disorder of the synovial membrane primarily affecting young adults (with a peak age of onset in the second to fourth decade of life) characterized by proliferative, locally invasive tumor-like lesions, usually involving a single joint, tendon sheath or bursae (most commonly the joints of the knee and hip and rarely others such as the ankle, shoulder and temporomandibular joints). It presents with pain and limitation of motion along with swelling, heat and tenderness over the involved joint, eventually leading to arthritic degeneration and significant locomotor deficit, if left untreated. PVNS can recur in patients even after treatment." [Orphanet:66627] subset: gard_rare {source="GARD:0007396"} subset: ordo_disease {source="Orphanet:66627"} +synonym: "Diffuse Giant cell tumor of Tenosynovium" EXACT [DOID:2702] synonym: "diffuse pigmented villonodular synovitis" NARROW [GARD:0007396] synonym: "diffuse-type GCT" NARROW [Orphanet:66627] synonym: "diffuse-type giant cell tumor" NARROW [Orphanet:66627] @@ -119623,22 +120817,31 @@ synonym: "TSGCT" EXACT [Orphanet:66627] synonym: "villous tenosynovitis" EXACT [DOID:2702, SCTID:71508003] xref: COHD:81382 {source="MONDO:equivalentTo"} xref: DOID:2702 {source="EFO:1001106", source="MONDO:equivalentTo"} +xref: DOID:9898 {source="MONDO:equivalentTo"} xref: EFO:1001106 {source="MONDO:equivalentTo"} xref: GARD:0007396 {source="MONDO:equivalentTo"} xref: ICD10:M12.2 {source="Orphanet:66627", source="DOID:2702", source="ORDO:66627/e", source="MONDO:equivalentTo"} -xref: ICD9:719.20 {source="i2s", source="MONDO:equivalentTo"} +xref: ICD10:M12.20 {source="DOID:9898"} +xref: ICD9:719.2 {source="DOID:9898"} +xref: ICD9:719.20 {source="DOID:9898", source="i2s", source="MONDO:relatedTo", source="MONDO:equivalentTo"} xref: ICD9:719.28 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D013586 {source="MONDO:ontobio", source="EFO:1001106", source="Orphanet:66627", source="DOID:2702", source="ORDO:66627/e", source="MONDO:equivalentTo"} xref: NCIT:C3401 {source="DOID:2702", source="MONDO:relatedTo"} xref: Orphanet:66627 {source="MONDO:equivalentTo"} +xref: SCTID:202423001 {source="DOID:9898"} +xref: SCTID:202454002 {source="DOID:9898"} xref: SCTID:202903009 {source="DOID:2702"} +xref: SCTID:34671005 {source="DOID:9898"} xref: SCTID:703703002 {source="DOID:2702"} xref: SCTID:71508003 {source="DOID:2702"} +xref: SCTID:95411002 {source="DOID:9898"} xref: SCTID:95412009 {source="EFO:1001106", source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:2702", source="MONDO:equivalentTo"} xref: UMLS:C0039106 {source="Orphanet:66627", source="DOID:2702", source="ORDO:66627/e", source="MONDO:equivalentTo"} +xref: UMLS:C0158168 {source="DOID:9898"} is_a: MONDO:0002400 {source="DOID:2702", source="MESH:D013586"} ! synovitis (disease) is_a: MONDO:0015940 {source="Orphanet:66627"} ! rare rheumatologic disease relationship: excluded_subClassOf MONDO:0002522 {source="EFO:1001106"} ! tenosynovial giant cell tumor +relationship: excluded_subClassOf MONDO:0006816 {source="DOID:9898"} ! arthropathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7396/pigmented-villonodular-synovitis xsd:anyURI {source="GARD:0007396"} [Term] @@ -119696,28 +120899,12 @@ is_a: MONDO:0005495 {source="EFO:1001109"} ! adrenal gland disease [Term] id: MONDO:0006910 -name: pituitary-dependent Cushing disease -def: "Cushing's syndrome due to abnormally high secretion of adrenocorticotropic hormone (ACTH) from the pituitary gland." [] {http://purl.obolibrary.org/obo/NCIT_P381="NICHD", http://purl.obolibrary.org/obo/NCIT_P378="NCI"} -comment: Editor note: check ACTH-secreting pituitary adenoma -synonym: "ACTH hypersecretion, pituitary" RELATED [MESH:D047748] -synonym: "adrenocorticotropic hormone, inappropriate secretion" RELATED [MESH:D047748] -synonym: "overproduction of ACTH" EXACT [DOID:3946, MTHICD9_2006:255.3] -synonym: "pituitary Cushing disease" RELATED [MESH:D047748] -synonym: "pituitary Cushing diseases" RELATED [MESH:D047748] -synonym: "pituitary Cushing syndrome" RELATED [MESH:D047748] -synonym: "pituitary-dependent Cushing disease" EXACT [DOID:3946] -synonym: "pituitary-dependent Cushing's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] -xref: DOID:3946 {source="EFO:1001110", source="MONDO:equivalentTo"} -xref: EFO:1001110 {source="MONDO:equivalentTo"} -xref: ICD10:E24.0 {source="EFO:1001110", source="DOID:3946", source="MONDO:equivalentTo"} -xref: MedDRA:10035109 {source="EFO:1001110"} -xref: MESH:D047748 {source="EFO:1001110", source="DOID:3946", source="MONDO:equivalentTo"} -xref: NCIT:C113210 {source="MONDO:relatedTo", source="DOID:3946"} -xref: SCTID:190502001 {source="EFO:1001110", source="MONDO:kboom-pr-0.69/0.35/0.09", source="DOID:3946", source="MONDO:equivalentTo"} -xref: SCTID:9545009 {source="DOID:3946"} -xref: UMLS:C0221406 {source="MONDO:relatedTo", source="DOID:3946"} -is_a: MONDO:0006793 {source="DOID:3946", source="MESH:D047748", source="linkedlifedata"} ! hyperpituitarism -is_a: MONDO:0018912 {source="EFO:1001110", source="ICD10:E24.0", source="MONDOLEX:0006910"} ! Cushing syndrome +name: obsolete pituitary-dependent Cushing disease +comment: Obsoleted as only pituitaries secrete ACTH hence this must be equivalent to ACTH-dependent CS +is_a: MONDO:0006793 {source="MESH:D047748", source="linkedlifedata/inferred"} ! hyperpituitarism +is_a: MONDO:0018912 {source="EFO:1001110"} ! Cushing syndrome +is_obsolete: true +replaced_by: MONDO:0020528 [Term] id: MONDO:0006911 @@ -119757,10 +120944,10 @@ xref: MESH:D008586 {source="MONDO:ontobio", source="EFO:1001114", source="ORDO:5 xref: Orphanet:55655 {source="MONDO:equivalentTo"} xref: SCTID:51169003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1001114", source="MONDO:equivalentTo"} xref: UMLS:C0025295 {source="ORDO:55655/e", source="Orphanet:55655", source="MONDO:equivalentTo"} -is_a: MONDO:0006670 {source="EFO:1001114", source="MESH:D008586", source="MONDO:Redundant", source="linkedlifedata"} ! bacterial meningitis +is_a: MONDO:0006670 {source="EFO:1001114", source="MESH:D008586", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial meningitis is_a: MONDO:0015575 {source="MONDO:Redundant", source="Orphanet:55655"} ! rare bacterial infectious disease is_a: MONDO:0015659 {source="Orphanet:55655"} ! infectious disease with epilepsy -is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:55655", source="linkedlifedata"} ! infectious disease of the nervous system +is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:55655", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease of the nervous system intersection_of: MONDO:0004796 ! infectious meningitis intersection_of: realized_in_response_to_stimulus NCBITaxon:1313 ! Streptococcus pneumoniae @@ -119780,9 +120967,9 @@ xref: EFO:1001116 {source="MONDO:equivalentTo"} xref: MESH:D011129 {source="MONDO:ontobio", source="EFO:1001116", source="DOID:4308", source="MONDO:equivalentTo"} xref: SCTID:128078004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1001116", source="DOID:4308", source="MONDO:equivalentTo"} xref: UMLS:C0032587 {source="DOID:4308", source="MONDO:equivalentTo"} -is_a: MONDO:0001824 {source="DOID:4308", source="MESH:D011129", source="SCTID:128078004", source="https://en.wikipedia.org/wiki/Polyradiculoneuropathy", source="linkedlifedata"} ! polyneuropathy +is_a: MONDO:0001824 {source="DOID:4308", source="MESH:D011129", source="https://en.wikipedia.org/wiki/Polyradiculoneuropathy", source="linkedlifedata"} ! polyneuropathy is_a: MONDO:0002562 {source="MESH:D011129"} ! demyelinating disease -is_a: MONDO:0005244 {source="EFO:1001116", source="MONDO:Redundant", source="linkedlifedata"} ! peripheral neuropathy +is_a: MONDO:0005244 {source="EFO:1001116", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral neuropathy [Term] id: MONDO:0006916 @@ -119796,7 +120983,7 @@ xref: ICD9:576.0 {source="EFO:1001117", source="i2s", source="DOID:9740", source xref: MESH:D017562 {source="MONDO:ontobio", source="EFO:1001117", source="DOID:9740", source="MONDO:equivalentTo"} xref: SCTID:90782003 {source="EFO:1001117", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:9740", source="MONDO:equivalentTo"} xref: UMLS:C0152099 {source="DOID:9740", source="MONDO:equivalentTo"} -is_a: MONDO:0004868 {source="DOID:9740", source="MESH:D017562"} ! biliary tract disease +is_a: MONDO:0004868 {source="DOID:9740", source="MESH:D017562", source="linkedlifedata"} ! biliary tract disease is_a: MONDO:0006026 {source="EFO:1001117"} ! urinary bladder disease [Term] @@ -119831,7 +121018,7 @@ xref: SCTID:193451001 {source="DOID:12574"} xref: SCTID:43363007 {source="MONDO:kboom-pr-0.91/0.76/0.79", source="DOID:12574", source="EFO:1001119", source="MONDO:equivalentTo"} xref: SCTID:46627006 {source="MONDO:directSiblingOf", source="DOID:12574"} xref: UMLS:C0042167 {source="MONDO:directSiblingOf", source="DOID:12574"} -is_a: MONDO:0020283 {source="EFO:1001119/inferred", source="MESH:D015866/inferred", source="NCIT:C35111", source="linkedlifedata"} ! uveitis (disease) +is_a: MONDO:0020283 {source="DOID:12574/inferred", source="EFO:1001119/inferred", source="MESH:D015866/inferred", source="NCIT:C35111", source="linkedlifedata"} ! uveitis (disease) intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0019207 ! chorioretinal region @@ -119862,7 +121049,7 @@ xref: SCTID:15777000 {source="DOID:11716"} xref: SCTID:714628002 {source="DOID:11716"} xref: SCTID:9414007 {source="DOID:11716"} xref: UMLS:C0362046 {source="NCIT:C122685", source="DOID:11716", source="MONDO:equivalentTo"} -is_a: MONDO:0002908 {source="MESH:D011236/inferred", source="MONDO:Redundant", source="NCIT:C122685"} ! glucose metabolism disease +is_a: MONDO:0002908 {source="DOID:11716/inferred", source="MESH:D011236/inferred", source="MONDO:Redundant", source="NCIT:C122685"} ! glucose metabolism disease is_a: MONDO:0005015 {source="DOID:11716", source="EFO:1001121", source="MESH:D011236"} ! diabetes mellitus (disease) [Term] @@ -119885,9 +121072,9 @@ xref: ICD9:039.8 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:039.9 {source="i2s", source="MONDO:equivalentTo"} xref: MESH:D000193 {source="EFO:1001122", source="MONDO:equivalentTo"} xref: SCTID:11817007 {source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1001122", source="MESH:D000193/inferred", source="MONDO:Redundant", source="linkedlife/inferred"} ! bacterial infectious disease -is_a: MONDO:0021679 {source="MESH:D000193", source="linkedlife/inferred"} ! gram-positive bacterial infections -is_a: MONDO:0024389 {source="linkedlife"} ! anaerobic bacteria infectious disease +is_a: MONDO:0005113 {source="EFO:1001122", source="MESH:D000193/inferred", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0021679 {source="MESH:D000193", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! gram-positive bacterial infections +is_a: MONDO:0024389 {source="linkedlifedata"} ! anaerobic bacteria infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:2037 ! Actinomycetales @@ -119973,7 +121160,7 @@ xref: EFO:1001127 {source="MONDO:equivalentTo"} xref: MESH:D006192 {source="EFO:1001127", source="MONDO:equivalentTo"} xref: NCIT:C34654 {source="MONDO:equivalentTo"} xref: SCTID:41659003 {source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1001127", source="MESH:D006192/inferred"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="EFO:1001127", source="MESH:D006192/inferred", source="NCIT:C34654", source="linkedlifedata/inferred"} ! bacterial infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:724 ! Haemophilus @@ -120021,7 +121208,7 @@ xref: EFO:1001130 {source="MONDO:equivalentTo"} xref: MESH:D011512 {source="EFO:1001130", source="MONDO:equivalentTo"} xref: SCTID:186437007 {source="MONDO:equivalentTo"} xref: UMLS:C0033700 {source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1001130", source="MESH:D011512/inferred"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="EFO:1001130", source="MESH:D011512/inferred", source="linkedlifedata/inferred"} ! bacterial infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:583 ! Proteus @@ -120042,8 +121229,8 @@ xref: NCIT:C129934 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equiv xref: OMIM:MTHU036673 {source="EFO:1001131"} xref: SCTID:7379000 {source="EFO:1001131", source="DOID:12680", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0033790 {source="DOID:12680", source="NCIT:C129934", source="MONDO:equivalentTo"} -is_a: MONDO:0003569 {source="NCIT:C129934", source="linkedlifedata"} ! cranial nerve neuropathy -is_a: MONDO:0020128 {source="DOID:12680"} ! motor neuron disease +is_a: MONDO:0003569 {source="NCIT:C129934", source="linkedlifedata", source="linkedlifedata/inferred"} ! cranial nerve neuropathy +relationship: excluded_subClassOf MONDO:0020128 {source="DOID:12680"} ! motor neuron disease [Term] id: MONDO:0006931 @@ -120062,7 +121249,8 @@ xref: SCTID:207405001 {source="DOID:5364"} xref: SCTID:308689002 {source="DOID:5364"} xref: SCTID:39347009 {source="EFO:1001133"} xref: UMLS:C0009250 {source="DOID:5364", source="MONDO:equivalentTo"} -is_a: MONDO:0002732 {source="DOID:5364"} ! lung benign neoplasm +is_a: MONDO:0005275 {source="DOID:5364/inferred", source="MESH:D003074"} ! lung disease +relationship: excluded_subClassOf MONDO:0002732 {source="DOID:5364"} ! lung benign neoplasm [Term] id: MONDO:0006932 @@ -120097,7 +121285,7 @@ xref: SCTID:1648002 {source="DOID:3677", source="MONDO:equivalentTo", source="MO xref: SCTID:254641006 {source="DOID:3677"} xref: SCTID:707373004 {source="DOID:3677", source="EFO:1001135"} xref: UMLS:C0085269 {source="DOID:3677", source="MONDO:equivalentTo"} -is_a: MONDO:0005275 {source="DOID:3677", source="EFO:1001135", source="MESH:D016726", source="linkedlife"} ! lung disease +is_a: MONDO:0005275 {source="DOID:3677", source="EFO:1001135", source="MESH:D016726", source="linkedlifedata"} ! lung disease [Term] id: MONDO:0006935 @@ -120168,7 +121356,7 @@ xref: NCIT:C34964 {source="DOID:2744", source="EFO:1001140", source="MONDO:equiv xref: SCTID:197780007 {source="DOID:2744"} xref: SCTID:27174002 {source="DOID:2744", source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1001140", source="MONDO:equivalentTo"} xref: UMLS:C0034183 {source="DOID:2744", source="NCIT:C34964", source="MONDO:equivalentTo"} -is_a: MONDO:0005240 {source="DOID:2744", source="EFO:1001140", source="MESH:D011702/inferred", source="MONDO:Entailed", source="linkedlifedata"} ! kidney disease +is_a: MONDO:0005240 {source="DOID:2744", source="EFO:1001140", source="MESH:D011702/inferred", source="MONDO:Entailed", source="NCIT:C34964/inferred", source="linkedlifedata"} ! kidney disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001224 ! renal pelvis intersection_of: realized_in_response_to GO:0006954 ! inflammatory response @@ -120195,7 +121383,7 @@ xref: SCTID:197784003 {source="DOID:11400"} xref: SCTID:45816000 {source="EFO:1001141", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:11400", source="MONDO:equivalentTo"} xref: UMLS:C0034186 {source="DOID:11400", source="MONDO:equivalentTo", source="NCIT:C34965"} is_a: MONDO:0001786 {source="MONDO:cjm"} ! uterine inflammatory disease -is_a: MONDO:0005247 {source="NCIT:C34965", source="linkedlifedata"} ! urinary tract infection (disease) +is_a: MONDO:0005247 {source="NCIT:C34965", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary tract infection (disease) is_a: MONDO:0006938 {source="DOID:11400", source="MESH:D011704"} ! pyelitis [Term] @@ -120204,9 +121392,11 @@ name: radial nerve lesion def: "A peripheral nerve lesion that involves the radial nerve." [MONDO:patterns/location] synonym: "lesion of radial nerve" EXACT [DOID:12170, ICD9CM_2006:354.3] synonym: "lesion of radial nerve, NOS" RELATED EXCLUDE [DOID:12170, SCTID:16644004] +synonym: "peripheral nerve lesion of radial nerve" EXACT [MONDO:design_pattern] synonym: "radial nerve lesion NOS (disorder)" EXACT [DOID:12170, SCTID:193140006] synonym: "radial nerve lesions" EXACT [DOID:12170] synonym: "radial nerve lesions (disorder)" EXACT [DOID:12170, SCTID:193137006] +synonym: "radial nerve peripheral nerve lesion" EXACT [MONDO:design_pattern] xref: COHD:141004 {source="MONDO:equivalentTo"} xref: DOID:12170 {source="EFO:1001143", source="MONDO:equivalentTo"} xref: EFO:1001143 {source="MONDO:equivalentTo"} @@ -120309,7 +121499,7 @@ xref: SCTID:197668007 {source="DOID:13068"} xref: SCTID:266617009 {source="DOID:13068"} xref: UMLS:C0035086 {source="DOID:13068", source="MONDO:equivalentTo"} is_a: MONDO:0001343 {source="DOID:13068", source="ICD10:N25.0", source="MONDO:Redundant"} ! impaired renal function disease -is_a: MONDO:0005240 {source="EFO:1001152", source="MESH:D012080", source="MONDO:Redundant"} ! kidney disease +is_a: MONDO:0005240 {source="DOID:13068/inferred", source="EFO:1001152", source="MESH:D012080", source="MONDO:Redundant"} ! kidney disease is_a: MONDO:0005520 {source="MESH:D012080"} ! rickets (disease) is_a: MONDO:0006964 {source="MESH:D012080", source="MONDO:Redundant"} ! secondary hyperparathyroidism (disease) @@ -120345,7 +121535,7 @@ xref: NCIT:C34978 {source="EFO:1001154", source="MONDO:kboom-pr-1.00/0.93/31.20" xref: SCTID:232035005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1001154", source="MONDO:equivalentTo", source="DOID:8483"} xref: UMLS:C0035302 {source="NCIT:C34978", source="MONDO:equivalentTo", source="DOID:8483"} is_a: MONDO:0002089 {source="DOID:8483", source="NCIT:C34978", source="linkedlifedata"} ! retinal vascular occlusion -is_a: MONDO:0005328 {source="EFO:1001154", source="MESH:D015356/inferred", source="MONDO:Redundant", source="NCIT:C34978/inferred", source="linkedlifedata"} ! eye disease +is_a: MONDO:0005328 {source="EFO:1001154", source="MESH:D015356/inferred", source="MONDO:Redundant", source="NCIT:C34978/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease [Term] id: MONDO:0006949 @@ -120380,7 +121570,7 @@ xref: SCTID:193367006 {source="DOID:11563"} xref: SCTID:77628002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1001156", source="DOID:11563", source="MONDO:equivalentTo"} xref: UMLS:C0152026 {source="DOID:11563", source="MONDO:equivalentTo"} is_a: MONDO:0002311 {source="DOID:11563", source="linkedlifedata"} ! retinal vascular disease -is_a: MONDO:0018882 {source="DOID:11563", source="EFO:1001156", source="MESH:D031300", source="MONDO:Entailed"} ! vasculitis +is_a: MONDO:0018882 {source="DOID:11563", source="EFO:1001156", source="MESH:D031300", source="MONDO:Entailed", source="linkedlifedata"} ! vasculitis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0004864 ! vasculature of retina @@ -120398,7 +121588,7 @@ xref: NCIT:C34981 {source="EFO:1001157", source="MONDO:kboom-pr-1.00/0.93/31.20" xref: SCTID:46085004 {source="MONDO:kboom-pr-1.00/0.80/8.92", source="DOID:1727", source="MONDO:equivalentTo"} xref: UMLS:C0035328 {source="NCIT:C34981", source="DOID:1727", source="MONDO:equivalentTo"} is_a: MONDO:0002089 {source="DOID:1727", source="NCIT:C34981"} ! retinal vascular occlusion -is_a: MONDO:0005328 {source="EFO:1001157", source="MESH:D012170/inferred", source="MONDO:Redundant", source="NCIT:C34981/inferred", source="linkedlifedata"} ! eye disease +is_a: MONDO:0005328 {source="EFO:1001157", source="MESH:D012170/inferred", source="MONDO:Redundant", source="NCIT:C34981/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease [Term] id: MONDO:0006952 @@ -120427,7 +121617,7 @@ xref: SCTID:155110004 {source="DOID:13025"} xref: SCTID:415297005 {source="EFO:1001158", source="MONDO:kboom-pr-0.92/0.83/0.11", source="DOID:13025", source="MONDO:equivalentTo"} xref: SCTID:74277007 {source="DOID:13025"} xref: UMLS:C0035344 {source="NCIT:C34982", source="DOID:13025", source="Orphanet:90050", source="ORDO:90050/e", source="MONDO:equivalentTo"} -is_a: MONDO:0005283 {source="EFO:1001158", source="MESH:D012178", source="MONDOLEX:0006952", source="NCIT:C34982", source="linkedlifedata"} ! retinal disease +is_a: MONDO:0005283 {source="DOID:13025", source="EFO:1001158", source="MESH:D012178", source="MONDOLEX:0006952", source="NCIT:C34982", source="linkedlifedata"} ! retinal disease is_a: MONDO:0015120 {source="Orphanet:90050"} ! rare acquired eye disease property_value: confidence "0.9347826086956526" xsd:double @@ -120475,7 +121665,7 @@ xref: NCIT:C34882 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equiva xref: SCTID:23685000 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo", source="EFO:1001161"} xref: UMLS:C0035439 {source="NCIT:C34882"} is_a: MONDO:0000603 {source="OWLReasoner:2017"} ! autoimmune disease of cardiovascular system -is_a: MONDO:0004995 {source="EFO:1001161/inferred", source="ICD10:I05.I09"} ! cardiovascular disease +is_a: MONDO:0004995 {source="DOID:0050827/inferred", source="EFO:1001161/inferred", source="ICD10:I05.I09", source="MESH:D012214/inferred", source="NCIT:C34882/inferred", source="linkedlifedata/inferred"} ! cardiovascular disease relationship: disease_has_inflammation_site UBERON:0000948 ! heart relationship: excluded_subClassOf MONDO:0002869 {source="DOID:0050827"} ! heart valve disease @@ -120502,7 +121692,7 @@ xref: Orphanet:102021 {source="MONDO:equivalentTo"} xref: SCTID:37246009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.66"} xref: SCTID:416829003 {source="MONDO:kboom-pr-1.00/0.75/6.44", source="EFO:1001162", source="MONDO:equivalentTo"} xref: UMLS:C0035585 {source="Orphanet:102021", source="NCIT:C34991", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1001162", source="MESH:D012282/inferred", source="MONDO:Redundant", source="NCIT:C34991", source="linkedlifedata"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="EFO:1001162", source="MESH:D012282/inferred", source="MONDO:Redundant", source="NCIT:C34991", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0015575 {source="Orphanet:102021"} ! rare bacterial infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:780 ! Rickettsia @@ -120512,6 +121702,8 @@ id: MONDO:0006957 name: root caries def: "Dental caries involving the tooth root, cementum, or cervical area of the tooth." [MESH:D017213] synonym: "cementum caries" EXACT [DOID:14089, SCTID:30512007] +synonym: "cementum dental caries" EXACT [MONDO:design_pattern] +synonym: "dental caries of cementum" EXACT [MONDO:design_pattern] synonym: "dental caries of root surface" EXACT [DOID:14089, ICD9CM_2006:521.08] synonym: "Root caries" EXACT [DOID:14089, SCTID:234975001] xref: DOID:14089 {source="EFO:1001163", source="MONDO:equivalentTo"} @@ -120521,8 +121713,8 @@ xref: MESH:D017213 {source="EFO:1001163", source="MONDO:ontobio", source="DOID:1 xref: SCTID:234975001 {source="DOID:14089"} xref: SCTID:30512007 {source="MONDO:kboom-pr-0.88/0.76/0.10", source="DOID:14089", source="MONDO:equivalentTo"} xref: UMLS:C0162644 {source="DOID:14089", source="MONDO:equivalentTo"} -is_a: MONDO:0002233 {source="linkedlife"} ! enamel caries -is_a: MONDO:0005276 {source="DOID:14089", source="EFO:1001163", source="MESH:D017213", source="MONDO:Redundant", source="linkedlifedata"} ! dental caries +is_a: MONDO:0002233 {source="linkedlifedata"} ! enamel caries +is_a: MONDO:0005276 {source="DOID:14089", source="EFO:1001163", source="MESH:D017213", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! dental caries intersection_of: MONDO:0005276 ! dental caries intersection_of: disease_has_location UBERON:0001753 ! cementum @@ -120548,7 +121740,7 @@ xref: MedDRA:10048950 {source="EFO:1001166"} xref: MESH:D020426 {source="DOID:11446", source="EFO:1001166", source="MONDO:equivalentTo"} xref: SCTID:52585001 {source="DOID:11446", source="EFO:1001166", source="MONDO:kboom-pr-0.96/0.92/0.12", source="MONDO:equivalentTo"} xref: UMLS:C0149940 {source="DOID:11446", source="MONDO:equivalentTo"} -is_a: MONDO:0001397 {source="MESH:D020426"} ! mononeuropathy +is_a: MONDO:0001397 {source="DOID:11446/inferred", source="MESH:D020426"} ! mononeuropathy relationship: excluded_subClassOf MONDO:0001543 {source="DOID:11446"} ! lesion of sciatic nerve [Term] @@ -120591,7 +121783,7 @@ xref: SCTID:307599002 {source="DOID:4839", source="MONDO:kboom-pr-0.97/0.92/0.71 xref: SCTID:54734006 {source="DOID:4839", source="EFO:1001171"} xref: UMLS:C0206684 {source="NCIT:C40310", source="DOID:4839", source="MONDO:equivalentTo"} xref: UMLS:C1382026 {source="MONDO:directSiblingOf", source="DOID:4840"} -is_a: MONDO:0004970 {source="EFO:1001171", source="MESH:D018266", source="MONDO:Entailed", source="MONDOLEX:0006962", source="NCIT:C40310"} ! adenocarcinoma +is_a: MONDO:0004970 {source="EFO:1001171", source="MESH:D018266", source="MONDO:Entailed", source="MONDOLEX:0006962", source="NCIT:C40310", source="linkedlifedata/inferred"} ! adenocarcinoma is_a: MONDO:0006963 {source="MONDO:Entailed", source="NCIT:C40310/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! sebaceous gland neoplasm is_a: MONDO:0006973 {source="MONDO:Entailed", source="NCIT:C40310"} ! skin appendage carcinoma intersection_of: MONDO:0004970 ! adenocarcinoma @@ -120618,7 +121810,7 @@ xref: SCTID:92337009 {source="MONDO:superClassOf", source="EFO:1001172"} xref: UMLS:C0036503 {source="NCIT:C3363", source="DOID:5759", source="MONDO:equivalentTo"} xref: UMLS:C3805742 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0002297 {source="NCIT:C3363", source="linkedlifedata"} ! epidermal appendage tumor -is_a: MONDO:0002531 {source="DOID:5759", source="EFO:1001172", source="MESH:D012626", source="MONDO:Redundant", source="NCIT:C3363/inferred", source="linkedlifedata"} ! skin neoplasm +is_a: MONDO:0002531 {source="DOID:5759", source="EFO:1001172", source="MESH:D012626", source="MONDO:Redundant", source="NCIT:C3363/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin neoplasm is_a: MONDO:0006607 {source="MESH:D012626", source="MONDO:Entailed", source="OWLReasoner:2017"} ! sebaceous gland disease intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001821 ! sebaceous gland @@ -120724,7 +121916,7 @@ xref: SCTID:202851002 {source="DOID:14276"} xref: SCTID:239960007 {source="EFO:1001178", source="DOID:14276"} xref: SCTID:366831005 {source="DOID:14276"} xref: UMLS:C0376685 {source="DOID:14276", source="MONDO:equivalentTo"} -is_a: MONDO:0006816 {source="DOID:14276", source="EFO:1001178", source="MESH:D019534", source="linkedlife/inferred"} ! arthropathy +is_a: MONDO:0006816 {source="DOID:14276", source="EFO:1001178", source="MESH:D019534", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! arthropathy [Term] id: MONDO:0006969 @@ -120817,7 +122009,7 @@ xref: EFO:1001182 {source="MONDO:equivalentTo"} xref: MESH:D012832 {source="MONDO:ontobio", source="DOID:4374", source="EFO:1001182", source="MONDO:equivalentTo"} xref: SCTID:61233003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4374", source="MONDO:equivalentTo"} xref: UMLS:C0037120 {source="DOID:4374", source="MONDO:equivalentTo"} -is_a: MONDO:0005275 {source="DOID:4374", source="EFO:1001182", source="MESH:D012832/inferred", source="linkedlife/inferred"} ! lung disease +is_a: MONDO:0005275 {source="DOID:4374", source="EFO:1001182", source="MESH:D012832/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disease relationship: realized_in_response_to_stimulus ENVO:00003030 ! silage [Term] @@ -120860,8 +122052,8 @@ xref: MESH:D018228 {source="MONDO:ontobio", source="DOID:3098", source="EFO:1001 xref: NCIT:C3746 {source="DOID:3098", source="exact-label-match", source="EFO:1001184", source="MONDO:equivalentTo"} xref: SCTID:73506006 {source="DOID:3098", source="EFO:1001184"} xref: UMLS:C0206652 {source="NCIT:C3746", source="DOID:3098", source="MONDO:equivalentTo"} -is_a: MONDO:0002176 {source="DOID:3098"} ! connective tissue cancer is_a: MONDO:0005089 {source="EFO:1001184", source="MESH:D018228", source="NCIT:C3746"} ! sarcoma +relationship: excluded_subClassOf MONDO:0002176 {source="DOID:3098"} ! connective tissue cancer [Term] id: MONDO:0006975 @@ -120880,7 +122072,7 @@ xref: NCIT:C3751 {source="EFO:1001185", source="DOID:4310", source="DesignPatter xref: SCTID:189799007 {source="DOID:4310"} xref: SCTID:75109009 {source="EFO:1001185", source="DOID:4310"} xref: UMLS:C0206658 {source="DOID:4310", source="NCIT:C3751", source="MONDO:equivalentTo"} -is_a: MONDO:0005070 {source="EFO:1001185", source="EFO:1001185/inferred", source="MESH:D018235/inferred", source="MONDO:Redundant", source="NCIT:C3751/inferred", source="OWLReasoner:2017"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="DOID:4310/inferred", source="EFO:1001185", source="EFO:1001185/inferred", source="MESH:D018235/inferred", source="MONDO:Redundant", source="NCIT:C3751/inferred", source="OWLReasoner:2017"} ! neoplasm (disease) is_a: MONDO:0021545 {source="MESH:D018235", source="MONDO:Entailed", source="NCIT:C3751", source="OWLReasoner:Elk-2018-01-10"} ! myomatous neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_arises_from_structure CL:0000192 ! smooth muscle cell @@ -120947,7 +122139,7 @@ xref: SCTID:155941004 {source="DOID:11997"} xref: SCTID:43077002 {source="DOID:11997"} xref: SCTID:49263001 {source="DOID:11997", source="MONDO:kboom-pr-1.00/0.86/15.45", source="EFO:1001189", source="MONDO:equivalentTo"} xref: UMLS:C0037859 {source="DOID:11997", source="MONDO:equivalentTo"} -is_a: MONDO:0003150 {source="DOID:11997", source="MESH:D013088"} ! male reproductive system disease +is_a: MONDO:0003150 {source="DOID:11997", source="ICD10:N43.4/inferred", source="MESH:D013088", source="linkedlifedata/inferred"} ! male reproductive system disease [Term] id: MONDO:0006978 @@ -120970,7 +122162,7 @@ xref: SCTID:154839008 {source="DOID:2533"} xref: SCTID:22996003 {source="DOID:2533", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1001190", source="MONDO:equivalentTo"} xref: SCTID:267570002 {source="DOID:2533"} xref: UMLS:C0037998 {source="DOID:2533", source="MONDO:equivalentTo"} -is_a: MONDO:0002332 {source="DOID:2533", source="ICD10:D73.5", source="MESH:D013159"} ! splenic disease +is_a: MONDO:0002332 {source="DOID:2533", source="ICD10:D73.5", source="MESH:D013159", source="linkedlifedata", source="linkedlifedata/inferred"} ! splenic disease [Term] id: MONDO:0006979 @@ -121021,8 +122213,8 @@ xref: SCTID:194923008 {source="DOID:4562"} xref: SCTID:50194006 {source="DOID:4562"} xref: SCTID:73774007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4562", source="EFO:1001193", source="MONDO:equivalentTo"} xref: UMLS:C0014122 {source="NCIT:C34583", source="DOID:4562", source="MONDO:equivalentTo"} -is_a: MONDO:0000565 {source="DOID:4562", source="linkedlifedata"} ! infective endocarditis -is_a: MONDO:0005025 {source="EFO:1001193", source="MESH:D004698/inferred", source="MONDO:Redundant", source="NCIT:C34583", source="linkedlifedata"} ! endocarditis (disease) +is_a: MONDO:0000565 {source="DOID:4562", source="linkedlifedata", source="linkedlifedata/inferred"} ! infective endocarditis +is_a: MONDO:0005025 {source="DOID:4562/inferred", source="EFO:1001193", source="MESH:D004698/inferred", source="MONDO:Redundant", source="NCIT:C34583", source="linkedlifedata", source="linkedlifedata/inferred"} ! endocarditis (disease) [Term] id: MONDO:0006982 @@ -121056,7 +122248,7 @@ xref: SCTID:38727009 {source="DOID:7165", source="EFO:1001194"} xref: SCTID:428041004 {source="MONDO:kboom-pr-0.89/0.76/0.10", source="DOID:7165", source="MONDO:equivalentTo"} xref: UMLS:C0040149 {source="DOID:7165", source="MONDO:equivalentTo"} xref: UMLS:C0342176 {source="NCIT:C35828"} -is_a: MONDO:0004126 {source="DOID:7165", source="MESH:D013968", source="NCIT:C35828/inferred", source="linkedlifedata"} ! thyroiditis (disease) +is_a: MONDO:0004126 {source="DOID:7165", source="MESH:D013968", source="NCIT:C35828/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! thyroiditis (disease) [Term] id: MONDO:0006983 @@ -121091,7 +122283,7 @@ xref: MedDRA:10042360 {source="EFO:1001196"} xref: MESH:D013354 {source="EFO:1001196", source="MONDO:ontobio", source="DOID:11389", source="MONDO:equivalentTo"} xref: SCTID:37660004 {source="EFO:1001196", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11389", source="MONDO:equivalentTo"} xref: UMLS:C0038539 {source="DOID:11389", source="MONDO:equivalentTo"} -is_a: MONDO:0002602 {source="DOID:11389", source="MESH:D013354/inferred", source="linkedlife/inferred"} ! central nervous system disease +is_a: MONDO:0002602 {source="DOID:11389", source="MESH:D013354/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! central nervous system disease is_a: MONDO:0005242 {source="MESH:D013354"} ! empyema [Term] @@ -121198,7 +122390,7 @@ xref: MedDRA:10042900 {source="EFO:1001206"} xref: MESH:D013589 {source="EFO:1001206"} xref: SCTID:20735004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1001206", source="MONDO:equivalentTo"} xref: UMLS:C0003511 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005976 {source="EFO:1001206", source="linkedlifedata"} ! syphilis +is_a: MONDO:0005976 {source="EFO:1001206", source="linkedlifedata", source="linkedlifedata/inferred"} ! syphilis [Term] id: MONDO:0006993 @@ -121238,7 +122430,7 @@ xref: SCTID:155077008 {source="DOID:12526"} xref: SCTID:47374004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12526", source="EFO:1001208", source="MONDO:equivalentTo"} xref: UMLS:C0039319 {source="DOID:12526", source="MONDO:equivalentTo", source="NCIT:C85183"} is_a: MONDO:0002254 {source="MONDOLEX:0006994", source="NCIT:C85183"} ! syndromic disease -is_a: MONDO:0006997 {source="DOID:12526", source="EFO:1001208", source="MESH:D013641", source="linkedlifedata"} ! tibial neuropathy +is_a: MONDO:0006997 {source="DOID:12526", source="EFO:1001208", source="MESH:D013641", source="linkedlifedata", source="linkedlifedata/inferred"} ! tibial neuropathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7733/tarsal-tunnel-syndrome xsd:anyURI {source="GARD:0007733"} [Term] @@ -121286,8 +122478,8 @@ xref: NCIT:C112836 {source="DOID:12837", source="MONDO:equivalentTo"} xref: SCTID:190262002 {source="DOID:12837"} xref: SCTID:29028009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12837", source="EFO:1001212", source="MONDO:equivalentTo"} xref: UMLS:C0040127 {source="DOID:12837", source="MONDO:equivalentTo"} -is_a: MONDO:0003240 {source="DOID:12837", source="EFO:1001212", source="MESH:D013958/inferred", source="linkedlifedata"} ! thyroid gland disease -is_a: MONDO:0004425 {source="NCIT:C112836"} ! hyperthyroidism +is_a: MONDO:0003240 {source="DOID:12837", source="EFO:1001212", source="MESH:D013958/inferred", source="NCIT:C112836/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! thyroid gland disease +is_a: MONDO:0004425 {source="MESH:D013958/inferred", source="NCIT:C112836", source="linkedlifedata/inferred"} ! hyperthyroidism [Term] id: MONDO:0006997 @@ -121344,7 +122536,7 @@ xref: SCTID:363393007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:885 xref: SCTID:93937006 {source="DOID:8858"} xref: UMLS:C0751560 {source="DOID:8858", source="NCIT:C7404", source="MONDO:equivalentTo"} is_a: MONDO:0004685 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! Waldeyer's ring cancer -is_a: MONDO:0021250 {source="MONDO:Entailed", source="NCIT:C7404", source="OWLReasoner:Elk-2018-01-09"} ! tonsil neoplasm +is_a: MONDO:0021250 {source="MONDO:Entailed", source="NCIT:C7404", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! tonsil neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0002372 ! tonsil @@ -121353,6 +122545,7 @@ id: MONDO:0006999 name: tooth disease def: "A disease involving the calcareous tooth." [MONDO:DesignPattern] synonym: "calcareous tooth disease" EXACT [MONDO:patterns/location] +synonym: "calcareous tooth disease or disorder" EXACT [MONDO:design_pattern] synonym: "dental disorder" EXACT [CSP2005:0828-0533, DOID:1091] synonym: "disease of calcareous tooth" EXACT [MONDO:patterns/location_top] synonym: "disorder of calcareous tooth" RELATED [MONDO:patterns/location_top] @@ -121368,7 +122561,7 @@ xref: SCTID:266485001 {source="DOID:1091"} xref: SCTID:367503003 {source="DOID:1091"} xref: SCTID:72722003 {source="DOID:1091"} xref: UMLS:C0040435 {source="NCIT:C35077", source="DOID:1091", source="MONDO:equivalentTo"} -is_a: MONDO:0006858 {source="DOID:1091", source="EFO:1001216", source="linkedlifedata"} ! mouth disease +is_a: MONDO:0006858 {source="DOID:1091", source="EFO:1001216", source="NCIT:C35077/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001091 ! calcareous tooth @@ -121385,7 +122578,7 @@ xref: DOID:2265 {source="EFO:1001217", source="MONDO:obsolete"} xref: EFO:1001217 {source="MONDO:equivalentTo"} xref: MESH:D014211 {source="EFO:1001217", source="MONDO:equivalentTo"} xref: NCIT:C85197 {source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1001217", source="MESH:D014211/inferred", source="MONDO:Redundant"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="EFO:1001217", source="MESH:D014211/inferred", source="MONDO:Redundant", source="NCIT:C85197"} ! bacterial infectious disease is_a: MONDO:0021678 {source="MESH:D014211"} ! gram-negative bacterial infections is_a: MONDO:0021681 {source="NCIT:C85197"} ! sexually transmitted disease intersection_of: MONDO:0000001 ! disease or disorder @@ -121420,6 +122613,7 @@ synonym: "IVth cranial nerve disorder" EXACT [NCIT:C78395] synonym: "IVth nerve disorder" EXACT [NCIT:C78395] synonym: "Superior oblique muscle innervation disorder" EXACT [DOID:13864, SCTID:6845000] synonym: "trochlear nerve disease" EXACT [MONDO:patterns/location] +synonym: "trochlear nerve disease or disorder" EXACT [MONDO:design_pattern] synonym: "trochlear nerve disorder" EXACT [NCIT:C78395] synonym: "trochlear nerve disorder, NOS" RELATED EXCLUDE [DOID:13864, SCTID:14904006] xref: DOID:13864 {source="EFO:1001220", source="MONDO:equivalentTo"} @@ -121452,6 +122646,7 @@ replaced_by: MONDO:0019805 id: MONDO:0007004 name: type III hypersensitivity disease def: "Group of diseases mediated by the deposition of large soluble complexes of antigen and antibody with resultant damage to tissue. Besides serum sickness and the arthus reaction, evidence supports a pathogenic role for immune complexes in many other immune system diseases including glomerulonephritis, systemic lupus erythematosus (lupus erythematosus, systemic) and polyarteritis nodosa." [MESH:D007105] +synonym: "disorder of type III hypersensitivity" EXACT [MONDO:design_pattern] synonym: "hypersensitivity reaction type III disease" RELATED [DOID:1557] synonym: "immune complex disease" EXACT [CSP2005:1560-5864, DOID:1557] xref: DOID:1557 {source="EFO:1001222", source="MONDO:equivalentTo"} @@ -121474,12 +122669,14 @@ xref: EFO:1001223 {source="MONDO:equivalentTo"} xref: ICD9:556.3 {source="i2s", source="MONDO:equivalentTo"} xref: MESH:D011350 {source="EFO:1001223"} xref: SCTID:52506002 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/7.87"} -is_a: MONDO:0005265 {source="EFO:1001223", source="linkedlifedata"} ! inflammatory bowel disease +is_a: MONDO:0005265 {source="EFO:1001223", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory bowel disease [Term] id: MONDO:0007006 name: ulnar neuropathy def: "Disease involving the ulnar nerve from its origin in the brachial plexus to its termination in the hand. Clinical manifestations may include paresis or paralysis of wrist flexion, finger flexion, thumb adduction, finger abduction, and finger adduction. Sensation over the medial palm, fifth finger, and ulnar aspect of the ring finger may also be impaired. Common sites of injury include the axilla, cubital tunnel at the elbow, and Guyon's canal at the wrist. (From Joynt, Clinical Neurology, 1995, Ch51 pp43-5)" [MESH:D020424] +synonym: "mononeuropathy of ulnar nerve" EXACT [MONDO:design_pattern] +synonym: "ulnar nerve mononeuropathy" EXACT [MONDO:design_pattern] synonym: "ulnar neuropathy" EXACT [DOID:4613, SCTID:367399005, SCTID:394515001, SCTID:395205004] synonym: "ulnar neuropathy (disorder)" EXACT [DOID:4613, SCTID:359837005] synonym: "ulnar neuropathy (disorder) [ambiguous]" EXACT [DOID:4613, SCTID:55802003] @@ -121508,8 +122705,8 @@ xref: DOID:3100 {source="EFO:1001225", source="MONDO:obsolete"} xref: EFO:1001225 {source="MONDO:equivalentTo"} xref: MESH:D016869 {source="EFO:1001225", source="MONDO:equivalentTo"} xref: SCTID:51105006 {source="EFO:1001225", source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1001225", source="MESH:D016869/inferred", source="MONDO:Redundant"} ! bacterial infectious disease -is_a: MONDO:0005297 {source="MONDO:cjm"} ! urethritis (disease) +is_a: MONDO:0005113 {source="EFO:1001225", source="MESH:D016869/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0005297 {source="MONDO:cjm", source="linkedlifedata"} ! urethritis (disease) intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:2129 ! Ureaplasma @@ -121545,7 +122742,7 @@ xref: NCIT:C114696 {source="DOID:14146", source="EFO:1001228", source="MONDO:kbo xref: SCTID:31054009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14146", source="EFO:1001228", source="MONDO:equivalentTo"} xref: SCTID:95573009 {source="DOID:14146"} xref: UMLS:C0041952 {source="DOID:14146", source="NCIT:C114696", source="MONDO:equivalentTo"} -is_a: MONDO:0001926 {source="DOID:14146", source="MESH:D053039"} ! ureteral disease +is_a: MONDO:0001926 {source="DOID:14146", source="MESH:D053039", source="NCIT:C114696/inferred", source="linkedlifedata"} ! ureteral disease is_a: MONDO:0006026 {source="EFO:1001228"} ! urinary bladder disease [Term] @@ -121609,7 +122806,7 @@ xref: DOID:1499 {source="EFO:1001235", source="MONDO:obsolete"} xref: EFO:1001235 {source="MONDO:equivalentTo"} xref: MESH:D014735 {source="EFO:1001235", source="MONDO:equivalentTo"} xref: UMLS:C0042636 {source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1001235"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="EFO:1001235", source="MESH:D014735/inferred"} ! bacterial infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:662 ! Vibrio @@ -121640,7 +122837,8 @@ xref: SCTID:267575007 {source="DOID:10310"} xref: SCTID:267680008 {source="DOID:10310"} xref: SCTID:58170007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1001236", source="DOID:10310", source="MONDO:equivalentTo"} xref: UMLS:C0025297 {source="NCIT:C118298", source="DOID:10310", source="MONDO:equivalentTo"} -is_a: MONDO:0004796 {source="EFO:1001236", source="MESH:D008587", source="NCIT:C118298", source="linkedlifedata"} ! infectious meningitis +is_a: MONDO:0004796 {source="DOID:10310", source="EFO:1001236", source="MESH:D008587", source="NCIT:C118298", source="linkedlifedata"} ! infectious meningitis +is_a: MONDO:0006662 ! aseptic meningitis [Term] id: MONDO:0007016 @@ -121662,7 +122860,7 @@ xref: MESH:D014802 {source="EFO:1001237", source="MONDO:equivalentTo"} xref: NCIT:C85220 {source="EFO:1001237", source="MONDO:kboom-pr-0.90/0.76/0.51", source="MONDO:equivalentTo"} xref: SCTID:72000004 {source="MONDO:kboom-pr-0.89/0.76/0.36", source="EFO:1001237", source="MONDO:equivalentTo"} xref: UMLS:C0042842 {source="NCIT:C85220", source="MONDO:equivalentTo"} -is_a: MONDO:0005137 {source="EFO:1001237", source="MESH:D014802/inferred", source="MONDO:Redundant", source="NCIT:C85220/inferred", source="linkedlifedata"} ! nutritional disorder +is_a: MONDO:0005137 {source="EFO:1001237", source="MESH:D014802/inferred", source="MONDO:Redundant", source="NCIT:C85220/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional disorder is_a: MONDO:0024298 {source="MESH:D014802", source="NCIT:C85220", source="linkedlifedata"} ! vitamin deficiency disorder [Term] @@ -121703,7 +122901,7 @@ xref: SCTID:266655004 {source="DOID:3901"} xref: SCTID:63144007 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="EFO:1001239", source="DOID:3901", source="MONDO:equivalentTo"} xref: UMLS:C0042996 {source="DOID:3901", source="MONDO:equivalentTo"} is_a: MONDO:0002187 {source="DOID:3901", source="MESH:D014847"} ! vulvar disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000997 ! mammalian vulva @@ -121724,7 +122922,7 @@ xref: SCTID:198215008 {source="DOID:2273"} xref: SCTID:266655004 {source="DOID:2273"} xref: SCTID:53277000 {source="EFO:1001240", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:2273", source="MONDO:equivalentTo"} xref: UMLS:C0042998 {source="NCIT:C35131", source="DOID:2273", source="MONDO:equivalentTo"} -is_a: MONDO:0001433 {source="MESH:D014848/inferred", source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09"} ! vaginal disease +is_a: MONDO:0001433 {source="MESH:D014848/inferred", source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata/inferred"} ! vaginal disease is_a: MONDO:0007018 {source="MESH:D014848", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! vulvitis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000996 ! vagina @@ -121745,7 +122943,7 @@ xref: SCTID:190626005 {source="DOID:2384"} xref: SCTID:190627001 {source="DOID:2384"} xref: SCTID:21007002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2384", source="MONDO:equivalentTo"} xref: UMLS:C0043121 {source="DOID:2384", source="MONDO:equivalentTo"} -is_a: MONDO:0005560 {source="DOID:2384", source="EFO:1001241", source="MESH:D014899/inferred", source="linkedlifedata"} ! brain disease +is_a: MONDO:0005560 {source="DOID:2384", source="EFO:1001241", source="MESH:D014899/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease is_a: MONDO:0021698 {source="MESH:D014899"} ! alcohol-related disorders [Term] @@ -121761,7 +122959,7 @@ xref: ICD9:995.3 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D021182 {source="EFO:1001243", source="DOID:3660", source="MONDO:equivalentTo"} xref: SCTID:420174000 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:3660", source="MONDO:equivalentTo"} xref: UMLS:C0949570 {source="DOID:3660", source="MONDO:equivalentTo"} -is_a: MONDO:0002497 {source="DOID:3660", source="EFO:1001243", source="linkedlifedata"} ! food allergy +is_a: MONDO:0002497 {source="DOID:3660", source="EFO:1001243", source="MESH:D021182", source="linkedlifedata"} ! food allergy intersection_of: MONDO:0005271 ! allergic disease intersection_of: realized_in_response_to_stimulus FOODON:00001141 ! wheat based food product relationship: realized_in_response_to_stimulus NCBITaxon:4564 {source="Wikidata"} ! Triticum @@ -121783,7 +122981,7 @@ xref: SCTID:197777006 {source="DOID:11401"} xref: SCTID:38898003 {source="EFO:1001244", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo", source="DOID:11401"} xref: UMLS:C0034188 {source="NCIT:C123038", source="MONDO:equivalentTo", source="DOID:11401"} is_a: MONDO:0001110 {source="DOID:11401", source="linkedlifedata"} ! chronic pyelonephritis -is_a: MONDO:0006939 {source="EFO:1001244", source="MESH:D011705", source="MONDO:Redundant", source="NCIT:C123038", source="linkedlifedata"} ! pyelonephritis +is_a: MONDO:0006939 {source="DOID:11401/inferred", source="EFO:1001244", source="MESH:D011705", source="MONDO:Redundant", source="NCIT:C123038", source="linkedlifedata", source="linkedlifedata/inferred"} ! pyelonephritis [Term] id: MONDO:0007023 @@ -121800,7 +122998,7 @@ xref: EFO:1001245 {source="MONDO:equivalentTo"} xref: MESH:D015009 {source="EFO:1001245", source="MONDO:equivalentTo"} xref: NCIT:C128337 {source="MONDO:equivalentTo"} xref: SCTID:83436008 {source="MONDO:kboom-pr-0.87/0.68/0.53", source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1001245", source="MONDO:Entailed"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="EFO:1001245", source="MESH:D015009/inferred", source="MONDO:Entailed", source="NCIT:C128337", source="linkedlifedata/inferred"} ! bacterial infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:629 ! Yersinia @@ -121821,8 +123019,8 @@ xref: EFO:1001246 {source="MONDO:equivalentTo"} xref: MESH:D015012 {source="EFO:1001246", source="MONDO:equivalentTo"} xref: SCTID:36753006 {source="MONDO:equivalentTo"} xref: UMLS:C0043410 {source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1001246", source="MONDO:Redundant"} ! bacterial infectious disease -is_a: MONDO:0007023 {source="MESH:D015012"} ! Yersinia infectious disease +is_a: MONDO:0005113 {source="EFO:1001246", source="MESH:D015012/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0007023 {source="MESH:D015012", source="linkedlifedata"} ! Yersinia infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:633 ! Yersinia pseudotuberculosis @@ -121878,6 +123076,7 @@ synonym: "Branchio-Oto-renal syndrome" EXACT [DOID:14702, MTH:NOCODE] synonym: "Branchio-otorenal dysplasia" EXACT [DOID:14702, SCTID:205806009] synonym: "branchiootorenal dysplasia" EXACT [DOID:14702] synonym: "branchiootorenal syndrome" EXACT [Orphanet:107] +synonym: "Melnick-Fraser syndrome" EXACT [DOID:14702] synonym: "Melnick-Fraser syndrome (disorder)" EXACT [DOID:14702, SCTID:290006] xref: DOID:14702 {source="EFO:1001251", source="MONDO:equivalentTo"} xref: EFO:1001251 {source="MONDO:equivalentTo"} @@ -121910,7 +123109,10 @@ property_value: confidence "0.14285714285714302" xsd:double id: MONDO:0007030 name: autosomal dominant Aarskog syndrome comment: We place the DO class here as it is explicitly AD, but it's not clear if the intent is for the DO class to be equivalent to the classic X-linked form (the DO synonyms suggest this is the case) +synonym: "Aarskog syndrome" RELATED [DOID:6683] synonym: "Aarskog syndrome, autosomal dominant" RELATED [OMIM:100050] +synonym: "Aarskog-Scott syndrome" EXACT [DOID:6683] +synonym: "faciogenital dysplasia" EXACT [DOID:6683] synonym: "Greig's syndrome" EXACT [DOID:6683] xref: DOID:6683 {source="MONDO:equivalentTo"} xref: ICD10:Q87.1 {source="DOID:6683"} @@ -121981,7 +123183,7 @@ xref: Orphanet:2970 {source="DOID:0060889", source="OMIM:100100", source="MONDO: xref: SCTID:5187006 {source="MONDO:kboom-pr-1.00/0.79/8.13", source="MONDO:equivalentTo"} xref: UMLS:C0033770 {source="NCIT:C85033", source="NCBI:mim2gene_medline", source="OMIM:100100", source="ORDO:2970/e", source="MONDO:equivalentTo", source="Orphanet:2970"} xref: UMLS:C0265363 {source="MONDO:directSiblingOf", source="ORDO:2970/e", source="Orphanet:2970"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85033"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060889", source="MONDO:Redundant", source="NCIT:C85033"} ! syndromic disease is_a: MONDO:0015620 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:2970"} ! syndromic urogenital tract malformation is_a: MONDO:0018559 {source="Orphanet:2970"} ! fetal lower urinary tract obstruction relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1952 {source="mim2gene_medgen"} ! CHRM3 @@ -121999,6 +123201,7 @@ synonym: "abducens nerve weakness" EXACT [DOID:10865, SCTID:398963001] synonym: "abducens palsy" RELATED [OMIM:100200] synonym: "abducent nerve paralysis" EXACT [NCIT:C27592] synonym: "cranial mononeuropathy VI" RELATED [GARD:0009482] +synonym: "cranial nerve palsy of abducens nerve" EXACT [MONDO:design_pattern] synonym: "cranial nerve VI palsy" RELATED [GARD:0009482] synonym: "disorder of abducent nerve" EXACT [DOID:10865, SCTID:230533001] synonym: "lateral rectus muscle denervation paresis" EXACT [DOID:10865, SCTID:398760006, SCTID:46587002] @@ -122034,7 +123237,7 @@ xref: SCTID:82373004 {source="DOID:10865"} xref: UMLS:C0271355 {source="DOID:10865", source="NCBI:mim2gene_medline"} xref: UMLS:C1847523 {source="OMIM:100200"} is_a: MONDO:0002782 {source="DOID:10865", source="MONDO:Entailed", source="NCIT:C27592"} ! cranial nerve palsy -is_a: MONDO:0003620 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! peripheral nervous system disease +is_a: MONDO:0003620 {source="DOID:10865/inferred", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral nervous system disease intersection_of: MONDO:0002782 ! cranial nerve palsy intersection_of: disease_has_location UBERON:0001646 ! abducens nerve @@ -122237,8 +123440,8 @@ xref: OMIM:101120 {source="GARD:0000115", source="DOID:0060359", source="MONDO:e xref: Orphanet:3128 {source="MONDO:equivalentToObsolete", source="GARD:0000115", source="OMIM:101120", source="DOID:0060359"} xref: SCTID:403768004 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1275079 {source="NCBI:mim2gene_medline", source="OMIM:101120", source="MONDO:equivalentTo"} -is_a: MONDO:0000078 {source="DC-OMIM:101120", source="https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome", source="linkedlifedata"} ! acrocephalopolysyndactyly -is_a: MONDO:0019796 {source="DOID:0060359"} ! acrocephalosyndactyly +is_a: MONDO:0000078 {source="DC-OMIM:101120", source="https://en.wikipedia.org/wiki/Sakati%E2%80%93Nyhan%E2%80%93Tisdale_syndrome", source="linkedlifedata", source="linkedlifedata/inferred"} ! acrocephalopolysyndactyly +is_a: MONDO:0019796 {source="DOID:0060359", source="linkedlifedata/inferred"} ! acrocephalosyndactyly [Term] id: MONDO:0007041 @@ -122416,7 +123619,8 @@ xref: MESH:C566323 {source="DOID:0060360", source="MONDO:ontobio", source="MONDO xref: OMIM:101840 {source="DOID:0060360", source="MONDO:equivalentTo"} xref: UMLS:C1863343 {source="NCBI:mim2gene_medline", source="OMIM:101840", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="rdfs-label"} ! inherited genetic disease -is_a: MONDO:0006530 {source="DOID:0060360"} ! cholesteatoma (disease) +is_a: MONDO:0006566 {source="DOID:0060360/inferred", source="MESH:C566323"} ! keratosis +relationship: excluded_subClassOf MONDO:0006530 {source="DOID:0060360"} ! cholesteatoma (disease) [Term] id: MONDO:0007047 @@ -122479,7 +123683,7 @@ xref: OMIM:101900 {source="DOID:0050606", source="ORDO:79151/e", source="Orphane xref: Orphanet:79151 {source="OMIM:101900", source="MONDO:equivalentTo"} xref: SCTID:400085009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0265971 {source="NCBI:mim2gene_medline", source="OMIM:101900", source="NCIT:C27519", source="ORDO:79151/e", source="Orphanet:79151", source="MONDO:equivalentTo"} -is_a: MONDO:0006566 {source="DOID:0050606", source="EFO:1000666", source="linkedlifedata"} ! keratosis +is_a: MONDO:0006566 {source="DOID:0050606", source="EFO:1000666", source="linkedlifedata", source="linkedlifedata/inferred"} ! keratosis is_a: MONDO:0015946 {source="Orphanet:79151", source="Orphanet:79151/inferred"} ! rare genetic epidermal disorder is_a: MONDO:0019271 {source="Orphanet:79151"} ! acrokeratoderma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/812 {source="mim2gene_medgen"} ! ATP2A2 @@ -122534,11 +123738,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/501/acromegal [Term] id: MONDO:0007052 -name: growth hormone secreting pituitary adenoma +name: growth hormone secreting pituitary adenoma 1 +comment: Editor note: consider splitting OMIM synonym: "acromegaly due to pituitary adenoma 1" RELATED [OMIM:102200] synonym: "familial isolated pituitary adenoma syndrome" RELATED [GARD:0010959] -synonym: "Growth hormone producing adenoma of the pituitary" EXACT [DOID:6255, NCIT:C7461] -synonym: "growth hormone secreting adenoma of pituitary" EXACT [DOID:6255] synonym: "isolated familial somatotropinoma" RELATED [OMIM:102200] synonym: "PAGH1" RELATED [MONDO:Lexical, OMIM:102200] synonym: "PITA1" RELATED [OMIM:102200] @@ -122548,31 +123751,24 @@ synonym: "pituitary adenoma predisposition" RELATED [OMIM:102200] synonym: "pituitary adenoma, familial isolated" RELATED [OMIM:102200] synonym: "pituitary adenoma, GROWTH hormone-secreting, 1" RELATED [MONDO:Lexical, OMIM:102200] synonym: "pituitary adenoma, GROWTH hormone-secreting, 1; PAGH1" RELATED [OMIM:102200] -synonym: "pituitary adenoma, Growth hormone-secreting, type 1" EXACT [MONDORULE:1, OMIM:102200] -synonym: "somatotroph adenoma (disorder)" EXACT [DOID:6255, SCTID:254957009] +synonym: "pituitary adenoma, growth hormone-secreting, type 1" EXACT [MONDORULE:1, OMIM:102200] synonym: "Somatotrophinoma, familial" RELATED [OMIM:102200] synonym: "somatotropinoma, familial isolated" RELATED [OMIM:102200] -xref: DOID:6255 {source="MONDO:equivalentTo"} xref: GARD:0010959 {source="OMIM-shared", source="MONDO:equivalentTo"} -xref: MESH:D049912 {source="DOID:6255"} -xref: NCIT:C7461 {source="MONDO:directSiblingOf", source="DOID:6255"} xref: OMIM:102200 {source="DOID:6255", source="MONDO:equivalentTo"} xref: Orphanet:314777 {source="MONDO:superClassOf", source="OMIM:102200"} xref: Orphanet:96256 {source="MONDO:subClassOf", source="OMIM:102200"} xref: Orphanet:963 {source="MONDO:superClassOf", source="OMIM:102200"} xref: Orphanet:99725 {source="MONDO:directSiblingOf", source="MONDO:superClassOf", source="OMIM:102200"} -xref: SCTID:254957009 {source="MONDO:directSiblingOf", source="DOID:6255"} xref: UMLS:C0346302 {source="NCBI:mim2gene_medline", source="DOID:6255"} xref: UMLS:C1863340 {source="OMIM:102200"} xref: UMLS:C2676191 {source="OMIM:102200"} xref: UMLS:C2676192 {source="OMIM:102200"} xref: UMLS:C3489630 {source="OMIM:102200"} -is_a: MONDO:0005332 ! growth hormone-secreting pituitary adenoma -is_a: MONDO:0006373 {source="MONDO:Redundant", source="OMIM:102200"} ! pituitary gland adenoma -is_a: MONDO:0019927 ! growth hormone-producing pituitary gland neoplasm +is_a: MONDO:0006238 ! growth hormone-producing pituitary gland adenoma +is_a: MONDO:0006373 {source="OMIM:102200"} ! pituitary gland adenoma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/358 {source="mim2gene_medgen"} ! AIP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4392 {source="mim2gene_medgen"} ! GNAS -property_value: confidence "0.3500000000000001" xsd:double [Term] id: MONDO:0007053 @@ -122730,8 +123926,10 @@ id: MONDO:0007060 name: spermatogenic failure 6 def: "Any azoospermia in which the cause of the disease is a mutation in the SPATA16 gene." [MONDO:patterns/disease_series_by_gene] synonym: "acrosome malformation of spermatozoa" RELATED [OMIM:102530] +synonym: "azoospermia caused by mutation in SPATA16" EXACT [MONDO:design_pattern] synonym: "globozoospermia" RELATED [OMIM:102530] synonym: "round-headed spermatozoa" RELATED [OMIM:102530] +synonym: "SPATA16 azoospermia" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 6" EXACT [MONDO:Lexical, OMIM:102530] synonym: "spermatogenic failure 6; SPGF6" RELATED [OMIM:102530] synonym: "spermatogenic failure type 6" EXACT [MONDORULE:1, OMIM:102530] @@ -122826,7 +124024,7 @@ xref: UMLS:C0392607 {source="Orphanet:277", source="ORDO:277/e"} xref: UMLS:C1863236 {source="OMIM:102700", source="NCBI:mim2gene_medline"} xref: UMLS:C1863237 {source="OMIM:102700"} xref: UMLS:C1863239 {source="OMIM:102700"} -is_a: MONDO:0015974 {source="DC-OMIM:102700", source="DOID:5810", source="MESH:C531816", source="MONDO:Redundant", source="NCIT:C3962", source="Orphanet:277/inferred", source="linkedlifedata"} ! severe combined immunodeficiency (disease) +is_a: MONDO:0015974 {source="DC-OMIM:102700", source="DOID:5810", source="MESH:C531816", source="MONDO:Redundant", source="NCIT:C3962", source="Orphanet:277/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! severe combined immunodeficiency (disease) is_a: MONDO:0017855 {source="Orphanet:277"} ! T-B- severe combined immunodeficiency is_a: MONDO:0019236 {source="Orphanet:277"} ! inborn disorder of purine metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/186 {source="mim2gene_medgen"} ! ADA @@ -122895,8 +124093,9 @@ is_a: MONDO:0004736 {source="DOID:0050762"} ! inherited amino acid metabolic dis is_a: MONDO:0015878 {source="Orphanet:46"} ! rare disease with autism is_a: MONDO:0015919 {source="Orphanet:46"} ! syndromic neurometabolic disease with non-X-linked intellectual disability is_a: MONDO:0019236 {source="Orphanet:46"} ! inborn disorder of purine metabolism +intersection_of: MONDO:0019052 ! inborn errors of metabolism +intersection_of: disease_has_basis_in_disruption_of GO:0070626 ! (S)-2-(5-amino-1-(5-phospho-D-ribosyl)imidazole-4-carboxamido)succinate AMP-lyase (fumarate-forming) activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/291 {source="mim2gene_medgen"} ! ADSL -property_value: confidence "3.7222222222222223" xsd:double [Term] id: MONDO:0007069 @@ -123080,7 +124279,7 @@ xref: Orphanet:42665 {source="DOID:0090002", source="OMIM:103500", source="MONDO xref: SCTID:403805009 {source="MONDO:kboom-pr-0.74/0.37/0.52", source="MONDO:equivalentTo"} xref: UMLS:C0391816 {source="NCBI:mim2gene_medline", source="OMIM:103500", source="MEDGEN:kboom-pr97-c99", source="Orphanet:42665", source="MONDO:equivalentTo", source="ORDO:42665/e"} is_a: MONDO:0000275 {source="DOID:0090002"} ! monogenic disease -is_a: MONDO:0019290 {source="Orphanet:42665"} ! hypopigmentation of the skin (disease) +is_a: MONDO:0019290 {source="MESH:C536919/inferred", source="Orphanet:42665"} ! hypopigmentation of the skin (disease) is_a: MONDO:0019589 {source="Orphanet:42665"} ! syndromic genetic deafness is_a: MONDO:0020276 {source="Orphanet:42665"} ! pigmentation disorder with eye involvement, excluding albinism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7105 {source="mim2gene_medgen"} ! MITF @@ -123150,8 +124349,10 @@ xref: SCTID:66590003 {source="EFO:0003829", source="MONDO:kboom-pr-0.85/0.68/0.1 xref: SCTID:95001001 {source="DOID:0050741"} xref: UMLS:C0001973 {source="NCIT:C93040", source="NCBI:mim2gene_medline", source="OMIM:103780"} xref: UMLS:C0031347 {source="DOID:0050741"} -is_a: MONDO:0004938 {source="NCIT:C93040"} ! substance dependence +is_a: MONDO:0004938 {source="DOID:0050741", source="NCIT:C93040", source="linkedlifedata/inferred"} ! substance dependence is_a: MONDO:0005303 {source="EFO:0003829", source="linkedlifedata"} ! drug dependence +intersection_of: MONDO:0004938 ! substance dependence +intersection_of: realized_in_response_to ECTO:0001082 ! alcohol consumption related exposure relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14921 {source="mim2gene_medgen"} ! TAS2R16 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18243 {source="mim2gene_medgen"} ! RCBTB1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/250 {source="mim2gene_medgen"} ! ADH1B @@ -123319,7 +124520,9 @@ def: "Any alternating hemiplegia of childhood in which the cause of the disease synonym: "AHC1" RELATED [MONDO:Lexical, OMIM:104290] synonym: "alternating hemiplegia of childhood 1" EXACT [MONDO:Lexical, OMIM:104290] synonym: "alternating hemiplegia of childhood 1; AHC1" RELATED [OMIM:104290] +synonym: "alternating hemiplegia of childhood caused by mutation in ATP1A2" EXACT [MONDO:design_pattern] synonym: "alternating hemiplegia of childhood type 1" EXACT [MONDORULE:1, OMIM:104290] +synonym: "ATP1A2 alternating hemiplegia of childhood" EXACT [MONDO:design_pattern] xref: OMIM:104290 {source="MONDO:equivalentTo"} xref: Orphanet:2131 {source="OMIM:104290", source="MONDO:subClassOf"} xref: UMLS:C3549447 {source="NCBI:mim2gene_medline", source="OMIM:104290", source="MONDO:equivalentTo"} @@ -123424,12 +124627,14 @@ def: "Any amelogenesis imperfecta in which the cause of the disease is a mutatio synonym: "AI1B" EXACT [DOID:0110052, MONDO:Lexical, OMIM:104500] synonym: "AIH2" EXACT [DOID:0110052] synonym: "Aih2" RELATED [OMIM:104500] +synonym: "amelogenesis imperfecta caused by mutation in ENAM" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta type IB" EXACT [DOID:0110052] synonym: "amelogenesis imperfecta, hypoplastic local, autosomal dominant" RELATED [OMIM:104500] synonym: "amelogenesis imperfecta, type 1B" RELATED [OMIM:104500] synonym: "amelogenesis imperfecta, type IB" RELATED [MONDO:Lexical, OMIM:104500] synonym: "amelogenesis imperfecta, type IB; AI1B" RELATED [OMIM:104500] synonym: "autosomal dominant hypoplastic local amelogenesis imperfecta" EXACT [DOID:0110052] +synonym: "ENAM amelogenesis imperfecta" EXACT [MONDO:design_pattern] synonym: "enamel hypoplasia, hereditary localized" RELATED [OMIM:104500] synonym: "hereditary localized enamel hypoplasia" EXACT [DOID:0110052] xref: DOID:0110052 {source="MONDO:equivalentTo"} @@ -123440,9 +124645,9 @@ xref: OMIM:104500 {source="MONDO:equivalentTo", source="DOID:0110052"} xref: Orphanet:100031 {source="OMIM:104500", source="MONDO:subClassOf"} xref: SCTID:234961008 {source="MONDO:kboom-pr-0.78/0.38/0.81", source="MONDO:equivalentTo"} xref: UMLS:C0399368 {source="NCBI:mim2gene_medline", source="OMIM:104500", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0015047 {source="MONDOLEX:0007092", source="ORDO:100031/btnt", source="linkedlifedata"} ! hypoplastic amelogenesis imperfecta -is_a: MONDO:0019507 {source="MESH:C562879", source="MONDO:Redundant", source="OMIM:104500", source="linkedlifedata"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="DOID:0110052", source="MESH:C562879", source="MONDO:Redundant", source="OMIM:104500", source="linkedlifedata", source="linkedlifedata/inferred"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3344 ! ENAM relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3344 {source="mim2gene_medgen"} ! ENAM @@ -123455,12 +124660,14 @@ def: "Any amelogenesis imperfecta in which the cause of the disease is a mutatio subset: ordo_clinical_subtype {source="Orphanet:100034"} synonym: "AI4" EXACT [DOID:0110053, MONDO:Lexical, OMIM:104510] synonym: "AIHHT" EXACT [DOID:0110053] +synonym: "amelogenesis imperfecta caused by mutation in DLX3" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation-hypoplastic type with taurodontism" EXACT [DOID:0110053] synonym: "amelogenesis imperfecta type 4" EXACT [Orphanet:100034] synonym: "amelogenesis imperfecta, hypomaturation-hypoplastic type, with taurodontism" RELATED [OMIM:104510] synonym: "amelogenesis imperfecta, type 4" RELATED [OMIM:104510] synonym: "amelogenesis imperfecta, type IV" RELATED [MONDO:Lexical, OMIM:104510] synonym: "amelogenesis imperfecta, type IV; AI4" RELATED [OMIM:104510] +synonym: "DLX3 amelogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110053 {source="MONDO:equivalentTo"} xref: ICD10:K00.5 {source="DOID:0110053", source="ORDO:100034/ntbt", source="Orphanet:100034", source="ORDO:100034/attributed"} xref: MESH:C566293 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -123482,6 +124689,7 @@ def: "Any amelogenesis imperfecta in which the cause of the disease is a mutatio comment: Not in the OMIM series. {source="OMIM:104530"} subset: gard_rare synonym: "AI1A" EXACT [DOID:0110054, MONDO:Lexical, OMIM:104530] +synonym: "amelogenesis imperfecta caused by mutation in LAMB3" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypoplastic type IA" EXACT [DOID:0110054] synonym: "amelogenesis imperfecta local hypoplastic" RELATED [GARD:0000645] synonym: "amelogenesis imperfecta type IA" EXACT [DOID:0110054] @@ -123489,6 +124697,7 @@ synonym: "amelogenesis imperfecta, hypoplastic type 1A" RELATED [OMIM:104530] synonym: "amelogenesis imperfecta, type 1A" RELATED [OMIM:104530] synonym: "amelogenesis imperfecta, type IA" RELATED [MONDO:Lexical, OMIM:104530] synonym: "amelogenesis imperfecta, type IA; AI1A" RELATED [OMIM:104530] +synonym: "LAMB3 amelogenesis imperfecta" EXACT [MONDO:design_pattern] synonym: "local hypoplastic amelogenesis imperfecta" RELATED [GARD:0000645] xref: DOID:0110054 {source="MONDO:equivalentTo"} xref: GARD:0000645 {source="MONDO:equivalentTo"} @@ -123500,7 +124709,7 @@ xref: Orphanet:88661 {source="MONDO:subClassOf", source="OMIM:104530"} xref: UMLS:C0399367 {source="NCBI:mim2gene_medline", source="OMIM:104530"} is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0015047 {source="MONDOLEX:0007094", source="ORDO:100031/btnt"} ! hypoplastic amelogenesis imperfecta -is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:104530"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="DOID:0110054", source="MESH:C538240", source="MONDO:Redundant", source="OMIM:104530"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6490 ! LAMB3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6490 {source="mim2gene_medgen"} ! LAMB3 @@ -123575,7 +124784,7 @@ xref: UMLS:C2751493 {source="OMIM:105120"} is_a: MONDO:0016134 {source="Orphanet:85448"} ! rare hereditary systemic disease with peripheral neuropathy is_a: MONDO:0018102 {source="MESH:C537459", source="MONDO:Redundant", source="Orphanet:85448/inferred"} ! corneal dystrophy (disease) is_a: MONDO:0018634 {source="MONDOLEX:0007097", source="Orphanet:85448"} ! hereditary amyloidosis -is_a: MONDO:0019065 {source="DOID:0050637", source="MESH:C537459", source="MONDO:Redundant", source="Orphanet:85448", source="linkedlifedata"} ! amyloidosis (disease) +is_a: MONDO:0019065 {source="DOID:0050637", source="MESH:C537459", source="MONDO:Redundant", source="Orphanet:85448", source="linkedlifedata", source="linkedlifedata/inferred"} ! amyloidosis (disease) is_a: MONDO:0020215 {source="Orphanet:85448"} ! syndromic corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4620 {source="mim2gene_medgen"} ! GSN property_value: confidence "2.6923076923076925" xsd:double @@ -123650,7 +124859,7 @@ xref: SCTID:66451004 {source="MONDO:kboom-pr-1.00/0.80/8.77", source="MONDO:equi xref: UMLS:C0268389 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:105200"} is_a: MONDO:0018634 {source="MESH:C538249", source="MONDO:Entailed", source="MONDOLEX:0007099", source="Orphanet:85450"} ! hereditary amyloidosis is_a: MONDO:0019052 {source="MESH:C538249/inferred", source="MONDO:Redundant", source="OWLReasoner:2017"} ! inborn errors of metabolism -is_a: MONDO:0019065 {source="DOID:0050636", source="MESH:C538249/inferred", source="MONDO:Redundant", source="Orphanet:85450", source="linkedlifedata"} ! amyloidosis (disease) +is_a: MONDO:0019065 {source="DOID:0050636", source="MESH:C538249/inferred", source="MONDO:Redundant", source="Orphanet:85450", source="linkedlifedata", source="linkedlifedata/inferred"} ! amyloidosis (disease) is_a: MONDO:0019724 {source="Orphanet:85450"} ! secondary glomerular disease is_a: MONDO:0020030 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="Orphanet:85450/inferred"} ! rare genetic renal disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3661 {source="mim2gene_medgen"} ! FGA @@ -123706,7 +124915,7 @@ xref: UMLS:C3151470 {source="OMIM:105210"} xref: UMLS:C3151471 {source="OMIM:105210"} is_a: MONDO:0016134 {source="Orphanet:85447"} ! rare hereditary systemic disease with peripheral neuropathy is_a: MONDO:0017132 {source="Orphanet:85447"} ! hereditary ATTR amyloidosis -is_a: MONDO:0019065 {source="DOID:0050761", source="Orphanet:85447/inferred"} ! amyloidosis (disease) +is_a: MONDO:0019065 {source="DOID:0050638", source="DOID:0050761", source="Orphanet:85447/inferred", source="linkedlifedata"} ! amyloidosis (disease) relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12405 {source="mim2gene_medgen"} ! TTR property_value: confidence "0.5" xsd:double @@ -123779,7 +124988,7 @@ xref: Orphanet:803 {source="OMIM:105400", source="MONDO:subClassOf"} xref: UMLS:C1862939 {source="NCBI:mim2gene_medline", source="OMIM:105400"} xref: UMLS:C1862941 {source="OMIM:105400"} xref: UMLS:C3542025 {source="OMIM:105400"} -is_a: MONDO:0004976 {source="MESH:C531617", source="MONDO:Redundant", source="OMIM:105400"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0060193", source="MESH:C531617", source="MONDO:Redundant", source="OMIM:105400"} ! amyotrophic lateral sclerosis is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11179 ! SOD1 @@ -123826,6 +125035,7 @@ def: "Any frontotemporal dementia with motor neuron disease in which the cause o synonym: "ALSFTD" EXACT [DOID:0060213, OMIM:105550] synonym: "amyotrophic lateral sclerosis and/or frontotemporal dementia" EXACT [DOID:0060213, OMIM:105550] synonym: "amyotrophic lateral sclerosis and/or frontotemporal dementia" RELATED [OMIM:105550] +synonym: "C9orf72 frontotemporal dementia with motor neuron disease" EXACT [MONDO:design_pattern] synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis" RELATED [OMIM:105550] synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" EXACT [DOID:0060213, OMIM:105550] synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 1" RELATED [MONDO:Lexical, OMIM:105550] @@ -123833,6 +125043,7 @@ synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis 1; FTDALS synonym: "frontotemporal dementia and/or amyotrophic lateral sclerosis type 1" EXACT [MONDORULE:1, OMIM:105550] synonym: "frontotemporal dementia and/or motor neuron disease" EXACT [DOID:0060213, OMIM:105550] synonym: "frontotemporal dementia and/or motor neuron disease" RELATED [OMIM:105550] +synonym: "frontotemporal dementia with motor neuron disease caused by mutation in C9orf72" EXACT [MONDO:design_pattern] synonym: "FTDALS1" RELATED [MONDO:Lexical, OMIM:105550] synonym: "FTDMND" EXACT [DOID:0060213, OMIM:105550] xref: DOID:0060213 {source="MONDO:equivalentTo"} @@ -123893,7 +125104,7 @@ xref: SCTID:285310000 {source="DOID:6126", source="MONDO:equivalentTo"} xref: UMLS:C0334273 {source="OMIM:105580"} xref: UMLS:C0563211 {source="OMIM:105580", source="NCBI:mim2gene_medline", source="DOID:6126", source="Orphanet:424013", source="NCIT:C7489"} is_a: MONDO:0000405 {source="DOID:6126", source="MONDO:Entailed"} ! anal canal cancer -is_a: MONDO:0003199 {source="MONDOLEX:0007108", source="NCIT:C7489"} ! anal carcinoma +is_a: MONDO:0003199 {source="MONDOLEX:0007108", source="NCIT:C7489", source="linkedlifedata"} ! anal carcinoma is_a: MONDO:0018516 {source="MONDO:Entailed", source="Orphanet:424013"} ! epithelial tumor of anal canal intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0000159 ! anal canal @@ -123942,9 +125153,11 @@ synonym: "Dba" RELATED [OMIM:105650] synonym: "DBA1" RELATED [MONDO:Lexical, OMIM:105650] synonym: "Diamond-Blackfan anemia 1" EXACT [MONDO:Lexical, OMIM:105650] synonym: "DIAMOND-Blackfan ANEMIA 1; DBA1" RELATED [OMIM:105650] +synonym: "Diamond-Blackfan anemia caused by mutation in RPS19" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 1" EXACT [MONDORULE:1, OMIM:105650] synonym: "erythrogenesis imperfecta" RELATED [OMIM:105650] synonym: "Red cell aplasia, Pure, hereditary" RELATED [OMIM:105650] +synonym: "RPS19 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: OMIM:105650 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="MONDO:subClassOf", source="OMIM:105650"} xref: UMLS:C2676137 {source="NCBI:mim2gene_medline", source="OMIM:105650", source="MONDO:equivalentTo"} @@ -124010,7 +125223,7 @@ is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75462"} ! syndromic is_a: MONDO:0015652 {source="Orphanet:72", source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature is_a: MONDO:0015955 {source="MONDO:Redundant"} ! rare genetic epilepsy is_a: MONDO:0015983 {source="Orphanet:72"} ! rare genetic syndromic intellectual disability -is_a: MONDO:0019040 {source="DOID:1932", source="MESH:D017204", source="linkedlife/inferred"} ! chromosomal anomaly +is_a: MONDO:0019040 {source="DOID:1932", source="MESH:C531619/inferred", source="MESH:D017204", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! chromosomal anomaly is_a: MONDO:0020016 {source="Orphanet:72"} ! rare neurologic disease with psychiatric involvement relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12496 {source="mim2gene_medgen"} ! UBE3A property_value: confidence "1.714285714285714" xsd:double @@ -124106,10 +125319,12 @@ name: isolated anhidrosis with normal sweat glands def: "Any anhidrosis in which the cause of the disease is a mutation in the ITPR2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:468666"} synonym: "ANHD" RELATED [MONDO:Lexical, OMIM:106190] +synonym: "anhidrosis caused by mutation in ITPR2" EXACT [MONDO:design_pattern] synonym: "anhidrosis, isolated, with NORMAL sweat glands" RELATED [MONDO:Lexical, OMIM:106190] synonym: "anhidrosis, isolated, with NORMAL sweat glands; ANHD" RELATED [OMIM:106190] synonym: "Dann-Epstein-Sohar syndrome" EXACT [DOID:0060603, OMIM:106190] synonym: "isolated generalized anhidrosis with normal sweat glands" RELATED [Orphanet:468666] +synonym: "ITPR2 anhidrosis" EXACT [MONDO:design_pattern] xref: DOID:0060603 {source="MONDO:equivalentTo"} xref: OMIM:106190 {source="DOID:0060603", source="MONDO:equivalentTo", source="Orphanet:468666"} xref: Orphanet:468666 {source="MONDO:equivalentTo"} @@ -124245,7 +125460,7 @@ is_a: MONDO:0015218 {source="Orphanet:1071"} ! syndromic developmental defect of is_a: MONDO:0015501 {source="Orphanet:1071"} ! syndrome or malformation associated with head and neck malformations is_a: MONDO:0017432 {source="Orphanet:1071"} ! syndrome with limb reduction defects is_a: MONDO:0018455 {source="MONDO:Redundant", source="Orphanet:1071", source="Orphanet:1071/inferred"} ! dysostosis of genetic origin with limb anomaly as a major feature -is_a: MONDO:0019287 {source="MESH:C535847", source="Orphanet:1071", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MESH:C535847", source="Orphanet:1071", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0020156 {source="Orphanet:1071"} ! syndromic ankyloblepharon relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15979 {source="mim2gene_medgen"} ! TP63 property_value: confidence "1.7876687750502525" xsd:double @@ -124266,7 +125481,7 @@ xref: NCIT:C124538 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equiv xref: OMIM:106280 {source="DOID:0060604", source="MONDO:equivalentTo"} xref: SCTID:67787004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"} xref: UMLS:C0152415 {source="NCBI:mim2gene_medline", source="NCIT:C124538", source="OMIM:106280"} -is_a: MONDO:0001165 {source="DOID:0060604", source="linkedlifedata"} ! tongue disease +is_a: MONDO:0001165 {source="DOID:0060604", source="linkedlifedata", source="linkedlifedata/inferred"} ! tongue disease is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease [Term] @@ -124275,8 +125490,10 @@ name: spondyloarthropathy, susceptibility to, 1 def: "Any spondyloarthropathy, susceptibility to in which the cause of the disease is a mutation in the HLA-B gene." [MONDO:patterns/disease_series_by_gene] synonym: "ankylosing spondylitis, susceptibility to" RELATED [OMIM:106300] synonym: "Bechterew syndrome" RELATED [OMIM:106300] +synonym: "HLA-B spondyloarthropathy, susceptibility to" EXACT [MONDO:design_pattern] synonym: "Marie-Strumpell spondylitis" RELATED [OMIM:106300] synonym: "SPDA1" RELATED [MONDO:Lexical, OMIM:106300] +synonym: "spondyloarthropathy, susceptibility to caused by mutation in HLA-B" EXACT [MONDO:design_pattern] synonym: "spondyloarthropathy, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:106300] synonym: "spondyloarthropathy, susceptibility to, 1; SPDA1" RELATED [OMIM:106300] synonym: "spondyloarthropathy, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:106300] @@ -124318,10 +125535,10 @@ xref: SCTID:31487001 {source="DOID:6652", source="MONDO:kboom-pr-1.00/0.91/29.66 xref: SCTID:55815007 {source="DOID:6652"} xref: UMLS:C0020498 {source="NCIT:C84671", source="DOID:6652", source="MONDO:equivalentTo", source="OMIM:106400"} xref: UMLS:C1862851 {source="NCBI:mim2gene_medline"} -is_a: MONDO:0002123 {source="DOID:6652"} ! calcinosis is_a: MONDO:0002185 {source="MESH:D004057", source="NCIT:C84671", source="linkedlifedata"} ! hyperostosis is_a: MONDO:0019052 {source="OWLReasoner:2017"} ! inborn errors of metabolism is_a: MONDO:0019711 {source="Orphanet:2206"} ! dysostosis with predominant vertebral and costal involvement +relationship: excluded_subClassOf MONDO:0002123 {source="DOID:6652"} ! calcinosis property_value: confidence "1.1176470588235294" xsd:double [Term] @@ -124340,8 +125557,10 @@ name: tooth agenesis, selective, 1 def: "Any tooth agenesis in which the cause of the disease is a mutation in the MSX1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "hypodontia/oligodontia 1" RELATED [OMIM:106600] synonym: "hypodontia/oligodontia with orofacial cleft" RELATED [OMIM:106600] +synonym: "MSX1 tooth agenesis" EXACT [MONDO:design_pattern] synonym: "second premolars and third molars, absence of" RELATED [OMIM:106600] synonym: "STHAG1" RELATED [MONDO:Lexical, OMIM:106600] +synonym: "tooth agenesis caused by mutation in MSX1" EXACT [MONDO:design_pattern] synonym: "Tooth agenesis, familial" RELATED [OMIM:106600] synonym: "tooth agenesis, selective, 1" EXACT [MONDO:Lexical, OMIM:106600] synonym: "TOOTH agenesis, selective, 1; STHAG1" RELATED [OMIM:106600] @@ -124368,6 +125587,7 @@ subset: ordo_morphological_anomaly {source="Orphanet:99125"} synonym: "anomalous pulmonary Venous return" RELATED [OMIM:106700] synonym: "pulmonary venolobar syndrome" EXACT [DOID:4297] synonym: "scimitar Anomaly" RELATED [OMIM:106700] +synonym: "scimitar syndrome" RELATED [DOID:4297] synonym: "TAPVR" EXACT [NCIT:C98585] synonym: "TAPVR1" RELATED [MONDO:Lexical, OMIM:106700] synonym: "total anomalous pulmonary venous return" EXACT [DOID:4297] @@ -124390,7 +125610,7 @@ xref: SCTID:39905002 {source="EFO:1001167", source="MONDO:directSiblingOf", sour xref: UMLS:C0036400 {source="NCBI:mim2gene_medline", source="MONDO:directSiblingOf", source="DOID:4297", source="OMIM:106700"} is_a: MONDO:0005453 {source="DOID:4297", source="MONDO:Redundant", source="NCIT:C98585/inferred"} ! congenital heart disease is_a: MONDO:0017705 {source="Orphanet:99125"} ! congenital pulmonary venous return anomaly -is_a: MONDO:0020295 {source="MONDO:Redundant", source="NCIT:C98585", source="Orphanet:99125/inferred", source="linkedlifedata"} ! congenital pulmonary veins anomaly +is_a: MONDO:0020295 {source="MONDO:Redundant", source="NCIT:C98585", source="Orphanet:99125/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital pulmonary veins anomaly property_value: confidence "0.0" xsd:double [Term] @@ -124738,7 +125958,7 @@ xref: UMLS:C0037315 {source="DOID:0050848"} xref: UMLS:C0338495 {source="DOID:0050848"} xref: UMLS:C0520679 {source="OMIM:107650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0007147", source="NCIT:C27168"} ! syndromic disease -is_a: MONDO:0003406 {source="ICD10:G47.33", source="MONDO:Redundant"} ! sleep-wake disorder +is_a: MONDO:0003406 {source="DOID:0050848/inferred", source="EFO:0003918/inferred", source="ICD10:G47.33", source="ICD10:G47.33/inferred", source="MESH:D020181/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! sleep-wake disorder is_a: MONDO:0005296 {source="DOID:0050848", source="EFO:0003918", source="ICD10:G47.33", source="MESH:D020181", source="MONDOLEX:0007147", source="linkedlifedata"} ! sleep apnea syndrome [Term] @@ -124799,6 +126019,7 @@ name: arrhythmogenic right ventricular dysplasia 1 def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TGFB3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "arrhythmogenic right ventricular cardiomyopathy 1" EXACT [DOID:0110070] synonym: "arrhythmogenic right ventricular cardiomyopathy 1" RELATED [OMIM:107970] +synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TGFB3" EXACT [MONDO:design_pattern] synonym: "arrhythmogenic right ventricular dysplasia type 1" EXACT [DOID:0110070, MONDORULE:1] synonym: "arrhythmogenic right ventricular dysplasia, familial, 1" RELATED [MONDO:Lexical, OMIM:107970] synonym: "arrhythmogenic right ventricular dysplasia, familial, 1; ARVD1" RELATED [OMIM:107970] @@ -124807,6 +126028,7 @@ synonym: "ARVC1" EXACT [DOID:0110070] synonym: "ARVD1" EXACT [DOID:0110070, MONDO:Lexical, OMIM:107970] synonym: "cardiomyopathy, right ventricular dilated" RELATED [OMIM:107970] synonym: "familial arrhythmogenic right ventricular dysplasia 1" EXACT [DOID:0110070] +synonym: "TGFB3 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "Uhl Anomaly" RELATED [OMIM:107970] xref: DOID:0110070 {source="MONDO:equivalentTo"} xref: ICD10:I42.8 {source="DOID:0110070"} @@ -124817,7 +126039,7 @@ xref: Orphanet:3403 {source="MONDO:relatedTo", source="MONDO:superClassOf", sour xref: UMLS:C0265857 {source="OMIM:107970"} xref: UMLS:C1862511 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:107970"} xref: UMLS:C1862512 {source="OMIM:107970"} -is_a: MONDO:0016587 {source="MONDO:Redundant", source="OMIM:107970"} ! arrhythmogenic right ventricular cardiomyopathy +is_a: MONDO:0016587 {source="DOID:0110070", source="MONDO:Redundant", source="OMIM:107970"} ! arrhythmogenic right ventricular cardiomyopathy is_a: MONDO:0017401 ! familial isolated arrhythmogenic ventricular dysplasia, left dominant form is_a: MONDO:0017402 ! familial isolated arrhythmogenic ventricular dysplasia, biventricular form is_a: MONDO:0017403 ! familial isolated arrhythmogenic ventricular dysplasia, right dominant form @@ -124858,7 +126080,7 @@ xref: SCTID:234142008 {source="MONDO:kboom-pr-1.00/0.91/28.92", source="MONDO:eq xref: UMLS:C0007772 {source="NCIT:C2936", source="Orphanet:46724", source="MONDO:equivalentTo", source="DOID:0060688", source="ORDO:46724/e"} xref: UMLS:C0917804 {source="OMIM:108010", source="NCBI:mim2gene_medline", source="Orphanet:46724"} xref: UMLS:C2676095 {source="OMIM:108010"} -is_a: MONDO:0001256 {source="MESH:D002538", source="MONDO:Redundant", source="NCIT:C2936"} ! arteriovenous hemangioma/malformation +is_a: MONDO:0001256 {source="DOID:0060688", source="MESH:D002538", source="MONDO:Redundant", source="NCIT:C2936"} ! arteriovenous hemangioma/malformation is_a: MONDO:0015145 {source="Orphanet:46724"} ! neurovascular malformation is_a: MONDO:0015953 {source="Orphanet:46724", source="Orphanet:46724/inferred"} ! genetic central nervous system and retinal vascular disease is_a: MONDO:0016229 {source="MONDO:Entailed", source="Orphanet:46724", source="Orphanet:46724/inferred"} ! genetic vascular anomaly @@ -124920,7 +126142,7 @@ synonym: "distal arthrogryposis type IIB" EXACT [Orphanet:1154] synonym: "distal arthrogryposis type IIB" RELATED [GARD:0004047] synonym: "distal arthrogryposis with ophthalmoplegia" EXACT [Orphanet:1154] synonym: "distal arthrogryposis with ophthalmoplegia" RELATED [GARD:0004047] -synonym: "Oculomelic amyoplasia" EXACT [GARD:0004047, OMIM:108145, Orphanet:1154] +synonym: "oculomelic amyoplasia" EXACT [GARD:0004047, OMIM:108145, Orphanet:1154] xref: GARD:0004047 {source="MONDO:equivalentTo"} xref: ICD10:Q68.8 {source="ORDO:1154/ntbt", source="ORDO:1154/attributed", source="Orphanet:1154"} xref: OMIM:108145 {source="GARD:0004047", source="ORDO:1154/e", source="MONDO:equivalentTo", source="Orphanet:1154"} @@ -125014,6 +126236,7 @@ synonym: "APCA" RELATED [GARD:0009602] synonym: "ataxia, episodic, with Nystagmus" RELATED [OMIM:108500] synonym: "ataxia, familial paroxysmal" RELATED [OMIM:108500] synonym: "ataxia, familial, paroxysmal" RELATED [GARD:0009602] +synonym: "CACNA1A hereditary episodic ataxia" EXACT [MONDO:design_pattern] synonym: "CAPA" RELATED [GARD:0009602] synonym: "cerebellar ataxia, paroxysmal, Acetazolamide-responsive" RELATED [OMIM:108500] synonym: "Cerebellopathy, hereditary paroxysmal" RELATED [OMIM:108500] @@ -125024,6 +126247,7 @@ synonym: "episodic ataxia, Nystagmus-associated" RELATED [OMIM:108500] synonym: "episodic ataxia, type 2" RELATED [MONDO:Lexical, OMIM:108500] synonym: "episodic ataxia, type 2; EA2" RELATED [OMIM:108500] synonym: "familial paroxysmal ataxia" RELATED [Orphanet:97] +synonym: "hereditary episodic ataxia caused by mutation in CACNA1A" EXACT [MONDO:design_pattern] synonym: "Nystagmus-associated episodic ataxia" RELATED [GARD:0009602] xref: DOID:0050990 {source="MONDO:equivalentTo"} xref: GARD:0009602 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -125033,7 +126257,7 @@ xref: OMIM:108500 {source="DOID:0050990", source="Orphanet:97", source="MONDO:eq xref: Orphanet:97 {source="OMIM:108500", source="MONDO:equivalentTo"} xref: SCTID:420932006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1720416 {source="NCBI:mim2gene_medline", source="Orphanet:97", source="OMIM:108500", source="MONDO:equivalentTo", source="ORDO:97/e"} -is_a: MONDO:0016227 {source="OMIM:108500", source="Orphanet:97", source="linkedlifedata"} ! hereditary episodic ataxia +is_a: MONDO:0016227 {source="DOID:0050990", source="OMIM:108500", source="Orphanet:97", source="linkedlifedata"} ! hereditary episodic ataxia intersection_of: MONDO:0016227 ! hereditary episodic ataxia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1388 ! CACNA1A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1388 {source="mim2gene_medgen"} ! CACNA1A @@ -125044,18 +126268,20 @@ id: MONDO:0007164 name: spastic ataxia 1 def: "Any autosomal dominant spastic ataxia in which the cause of the disease is a mutation in the VAMP1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:251282"} +synonym: "autosomal dominant spastic ataxia caused by mutation in VAMP1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant spastic ataxia type 1" RELATED [Orphanet:251282] synonym: "spastic ataxia 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:108600] synonym: "spastic ataxia 1, autosomal dominant; SPAX1" RELATED [OMIM:108600] synonym: "spastic ataxia type 1" EXACT [DOID:0050772, MONDORULE:1] synonym: "SPAX1" EXACT [MONDO:Lexical, OMIM:108600, Orphanet:251282] +synonym: "VAMP1 autosomal dominant spastic ataxia" EXACT [MONDO:design_pattern] xref: DOID:0050772 {source="MONDO:equivalentTo"} xref: ICD10:G11.4 {source="ORDO:251282/attributed", source="ORDO:251282/ntbt", source="Orphanet:251282", source="MONDO:relatedTo"} xref: MESH:C566993 {source="MONDO:equivalentTo"} xref: OMIM:108600 {source="ORDO:251282/e", source="DOID:0050772", source="Orphanet:251282", source="MONDO:equivalentTo"} xref: Orphanet:251282 {source="OMIM:108600", source="MONDO:equivalentTo"} xref: UMLS:C1970107 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="Orphanet:251282", source="OMIM:108600", source="MONDO:equivalentTo"} -is_a: MONDO:0017845 {source="MONDO:Redundant", source="OMIM:108600", source="Orphanet:251282/inferred"} ! spastic ataxia +is_a: MONDO:0017845 {source="DOID:0050772", source="MONDO:Redundant", source="OMIM:108600", source="Orphanet:251282/inferred"} ! spastic ataxia is_a: MONDO:0017846 {source="MONDOLEX:0007164", source="Orphanet:251282"} ! autosomal dominant spastic ataxia intersection_of: MONDO:0017846 ! autosomal dominant spastic ataxia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12642 ! VAMP1 @@ -125080,7 +126306,7 @@ xref: MESH:C566247 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:108650 {source="DOID:0050945", source="Orphanet:1182", source="ORDO:1182/e", source="MONDO:equivalentTo"} xref: Orphanet:1182 {source="OMIM:108650", source="MONDO:equivalentTo"} xref: UMLS:C1862441 {source="OMIM:108650", source="NCBI:mim2gene_medline", source="Orphanet:1182", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0017845 {source="MONDO:Redundant", source="OMIM:108650", source="Orphanet:1182/inferred"} ! spastic ataxia +is_a: MONDO:0017845 {source="DOID:0050945", source="MONDO:Redundant", source="OMIM:108650", source="Orphanet:1182/inferred"} ! spastic ataxia is_a: MONDO:0017846 {source="MONDOLEX:0007165", source="Orphanet:1182"} ! autosomal dominant spastic ataxia property_value: confidence "2.2500000000000004" xsd:double @@ -125181,9 +126407,11 @@ def: "Any atrial standstill in which the cause of the disease is a mutation in t synonym: "atrial cardiomyopathy with heart block" RELATED [OMIM:108770] synonym: "atrial standstill 1" EXACT [MONDO:Lexical, OMIM:108770] synonym: "atrial standstill 1; ATRST1" RELATED [OMIM:108770] +synonym: "atrial standstill caused by mutation in GJA5" EXACT [MONDO:design_pattern] synonym: "atrial standstill type 1" EXACT [MONDORULE:1, OMIM:108770] synonym: "ATRST1" RELATED [MONDO:Lexical, OMIM:108770] synonym: "cardiomyopathy, familial, with conduction disturbance" RELATED [OMIM:108770] +synonym: "GJA5 atrial standstill" EXACT [MONDO:design_pattern] xref: OMIM:108770 {source="MONDO:equivalentTo"} xref: Orphanet:1344 {source="OMIM:108770", source="MONDO:subClassOf"} xref: UMLS:C1838539 {source="NCBI:mim2gene_medline", source="OMIM:108770"} @@ -125226,11 +126454,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:1479"} synonym: "ASD with or without Atrioventricular conduction defects" RELATED [OMIM:108900] synonym: "ASD with or without atrioventricular conduction defects" EXACT [DOID:0110112] synonym: "ASD7" RELATED [MONDO:Lexical, OMIM:108900] +synonym: "atrial heart septal defect caused by mutation in NKX2-5" EXACT [MONDO:design_pattern] synonym: "atrial heart septal defect type 7" EXACT [DOID:0110112, MONDORULE:1] synonym: "atrial septal defect 7 with or without ATRIOVENTRICULAR conduction defects" RELATED [MONDO:Lexical, OMIM:108900] synonym: "atrial septal defect 7 with or without ATRIOVENTRICULAR conduction defects; ASD7" RELATED [OMIM:108900] synonym: "atrial septal defect 7, with or without AV conduction defects" EXACT [DOID:0110112] synonym: "atrial septal defect-atrioventricular conduction defects syndrome" EXACT [DOID:0110112] +synonym: "NKX2-5 atrial heart septal defect" EXACT [MONDO:design_pattern] xref: DOID:0110112 {source="MONDO:equivalentTo"} xref: ICD10:Q21.1 {source="ORDO:1479/attributed", source="DOID:0110112", source="Orphanet:1479", source="ORDO:1479/ntbt"} xref: OMIM:108900 {source="DOID:0110112", source="ORDO:1479/e", source="Orphanet:1479", source="MONDO:equivalentTo"} @@ -125299,7 +126529,7 @@ xref: MESH:C566236 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:108985 {source="ORDO:86813/e", source="MONDO:equivalentTo", source="Orphanet:86813"} xref: Orphanet:86813 {source="OMIM:108985", source="MONDO:equivalentTo"} xref: UMLS:C1862382 {source="NCBI:mim2gene_medline", source="OMIM:108985", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="Orphanet:86813"} -is_a: MONDO:0019118 {source="Orphanet:86813"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:86813"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11714 {source="mim2gene_medgen"} ! TEAD1 property_value: confidence "3.7222222222222223" xsd:double @@ -125359,7 +126589,7 @@ xref: OMIM:615952 {source="EFO:0005140", source="MONDO:superClassOf"} xref: SCTID:85828009 {source="EFO:0005140", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0004364 {source="NCIT:C2889", source="NCBI:mim2gene_medline", source="OMIM:109100", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000605 {source="DOID:417", source="MONDO:Entailed"} ! hypersensitivity reaction disease -is_a: MONDO:0005046 {source="MESH:D001327", source="MONDO:Redundant", source="NCIT:C2889"} ! immune system disease +is_a: MONDO:0005046 {source="DOID:417/inferred", source="EFO:0005140", source="MESH:D001327", source="MONDO:Redundant", source="NCIT:C2889"} ! immune system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity @@ -125502,7 +126732,7 @@ xref: SCTID:266498005 {source="DOID:8534"} xref: SCTID:54856001 {source="DOID:8534"} xref: SCTID:698065002 {source="DOID:8534"} xref: UMLS:C0017168 {source="NCBI:mim2gene_medline", source="OMIM:109350", source="DOID:8534", source="NCIT:C26781", source="MONDO:equivalentTo"} -is_a: MONDO:0003749 {source="MESH:D005764/inferred", source="MONDO:Entailed", source="OWLReasoner:2017"} ! esophageal disease +is_a: MONDO:0003749 {source="MESH:D005764/inferred", source="MONDO:Entailed", source="NCIT:C26781/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! esophageal disease is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0004298 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! stomach disease relationship: disease_has_feature HP:0012735 {source="Wikidata"} ! Cough @@ -125540,13 +126770,13 @@ xref: SCTID:69408002 {source="DOID:2512", source="MONDO:equivalentTo", source="M xref: UMLS:C0004779 {source="Orphanet:377", source="DOID:2512", source="NCBI:mim2gene_medline", source="ORDO:377/e", source="NCIT:C2892", source="MONDO:equivalentTo", source="OMIM:109400"} xref: UMLS:C0812437 {source="Orphanet:377"} is_a: MONDO:0000426 {source="DOID:2512", source="linkedlifedata"} ! autosomal dominant disease -is_a: MONDO:0015356 {source="NCIT:C2892/inferred", source="Orphanet:377", source="linkedlife", source="linkedlifedata"} ! hereditary neoplastic syndrome +is_a: MONDO:0015356 {source="NCIT:C2892/inferred", source="Orphanet:377", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0015950 {source="Orphanet:377"} ! inherited skin tumor is_a: MONDO:0016756 {source="Orphanet:377"} ! inherited nervous system cancer-predisposing syndrome is_a: MONDO:0019300 {source="Orphanet:377"} ! rare skin tumor or hamartoma is_a: MONDO:0020063 {source="Orphanet:377"} ! malformation syndrome with hamartosis is_a: MONDO:0020175 {source="Orphanet:377"} ! malignant tumor of palpebral epidermis -is_a: MONDO:0042983 {source="https://en.wikipedia.org/wiki/Phakomatosis"} ! neurocutaneous syndrome +is_a: MONDO:0042983 {source="NCIT:C2892", source="https://en.wikipedia.org/wiki/Phakomatosis"} ! neurocutaneous syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16466 {source="mim2gene_medgen"} ! SUFU relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9585 {source="mim2gene_medgen"} ! PTCH1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9586 {source="mim2gene_medgen"} ! PTCH2 @@ -125574,7 +126804,7 @@ property_value: confidence "8.6" xsd:double id: MONDO:0007189 name: B-cell growth factor synonym: "B-cell growth factor" EXACT [MONDO:Lexical, OMIM:109540] -synonym: "B-cell Growth Factor 1" RELATED [OMIM:109540] +synonym: "B-cell growth Factor 1" RELATED [OMIM:109540] synonym: "B-cell GROWTH FACTOR; BCGF" RELATED [OMIM:109540] synonym: "BCGF" RELATED [MONDO:Lexical, OMIM:109540] xref: OMIM:109540 {source="MONDO:equivalentTo"} @@ -125643,7 +126873,7 @@ is_a: MONDO:0017260 {source="Orphanet:117"} ! systemic diseases with posterior u is_a: MONDO:0017261 {source="Orphanet:117"} ! systemic diseases with panuveitis is_a: MONDO:0017370 {source="Orphanet:117"} ! autoinflammatory syndrome with skin involvement is_a: MONDO:0017957 {source="Orphanet:117"} ! unclassified autoinflammatory syndrome -is_a: MONDO:0019293 {source="OWLReasoner:2017"} ! skin vascular disease +is_a: MONDO:0019293 {source="MESH:D001528", source="OWLReasoner:2017"} ! skin vascular disease is_a: MONDO:0019724 {source="Orphanet:117"} ! secondary glomerular disease relationship: disease_has_feature HP:0000554 ! Uveitis relationship: disease_has_location UBERON:0001981 {source="EFO:0000784"} ! blood vessel @@ -125747,10 +126977,10 @@ subset: ordo_malformation_syndrome {source="Orphanet:1253"} synonym: "Ascher syndrome" EXACT [OMIM:109900] synonym: "Ascher's syndrome" RELATED [GARD:0000201] synonym: "blepharochalasis - double lip" RELATED [GARD:0000201] -synonym: "blepharochalasis and Double 51P" RELATED [OMIM:109900] synonym: "blepharochalasis and DOUBLE LIP" RELATED [OMIM:109900] +synonym: "blepharochalasis and Double lip" RELATED [OMIM:109900] synonym: "blepharochalasis and double lip" RELATED [GARD:0000201] -synonym: "blepharochalasis and Double type 51P" EXACT [MONDORULE:4, OMIM:109900] +synonym: "blepharochalasis and Double type lip" EXACT [MONDORULE:4, OMIM:109900] synonym: "blepharochalasis-double lip syndrome" EXACT [Orphanet:1253] synonym: "Double upper lip, blepharochalasis and enlargement of the thyroid" RELATED [GARD:0000201] xref: GARD:0000201 {source="MONDO:equivalentTo"} @@ -125904,7 +127134,9 @@ synonym: "bone fragility with craniosynostosis, ocular proptosis, hydrocephalus, synonym: "CLCRP1" RELATED [MONDO:Lexical, OMIM:112240] synonym: "Cole-Carpenter syndrome 1" EXACT [MONDO:Lexical, OMIM:112240] synonym: "COLE-CARPENTER syndrome 1; CLCRP1" RELATED [OMIM:112240] +synonym: "Cole-Carpenter syndrome caused by mutation in P4HB" EXACT [MONDO:design_pattern] synonym: "Cole-Carpenter syndrome type 1" EXACT [MONDORULE:1, OMIM:112240] +synonym: "P4HB Cole-Carpenter syndrome" EXACT [MONDO:design_pattern] xref: OMIM:112240 {source="MONDO:equivalentTo"} xref: Orphanet:2050 {source="MONDO:subClassOf", source="OMIM:112240"} xref: UMLS:C1862178 {source="MONDO:subClassOf", source="OMIM:112240"} @@ -125968,7 +127200,7 @@ xref: OMIM:112300 {source="Orphanet:1262", source="ORDO:1262/e", source="MONDO:e xref: Orphanet:1262 {source="MONDO:equivalentTo", source="OMIM:112300"} xref: SCTID:722296002 {source="MONDO:kboom-pr-1.00/0.76/8.25", source="MONDO:equivalentTo"} xref: UMLS:C0457014 {source="Orphanet:1262", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:112300"} -is_a: MONDO:0019287 {source="Orphanet:1262", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="Orphanet:1262", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome property_value: confidence "8.6" xsd:double [Term] @@ -125989,7 +127221,7 @@ xref: OMIM:112310 {source="Orphanet:1263", source="DOID:0050680", source="ORDO:1 xref: Orphanet:1263 {source="MONDO:equivalentTo", source="OMIM:112310"} xref: SCTID:254054000 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0432201 {source="Orphanet:1263", source="NCBI:mim2gene_medline", source="ORDO:1263/e", source="MONDO:equivalentTo", source="OMIM:112310"} -is_a: MONDO:0005516 {source="DOID:0050680", source="MESH:C536573", source="linkedlifedata"} ! osteochondrodysplasia +is_a: MONDO:0005516 {source="DOID:0050680", source="MESH:C536573", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0019690 {source="Orphanet:1263"} ! filamin-related bone disorder is_a: MONDO:0019700 {source="Orphanet:1263"} ! primary bone dysplasia with multiple joint dislocations relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3755 {source="mim2gene_medgen"} ! FLNB @@ -126261,9 +127493,11 @@ id: MONDO:0007220 name: brachydactyly type B1 def: "Any brachydactyly type B in which the cause of the disease is a mutation in the ROR2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BDB1" EXACT [DOID:0110969, MONDO:Lexical, OMIM:113000] +synonym: "brachydactyly type B caused by mutation in ROR2" EXACT [MONDO:design_pattern] synonym: "brachydactyly, type B" RELATED [OMIM:113000] synonym: "brachydactyly, type B1" RELATED [MONDO:Lexical, OMIM:113000] synonym: "brachydactyly, type B1; BDB1" RELATED [OMIM:113000] +synonym: "ROR2 brachydactyly type B" EXACT [MONDO:design_pattern] xref: DOID:0110969 {source="MONDO:equivalentTo"} xref: MESH:C566196 {source="MONDO:equivalentTo"} xref: OMIM:113000 {source="DOID:0110969", source="MONDO:equivalentTo"} @@ -126320,9 +127554,11 @@ id: MONDO:0007223 name: brachydactyly type E1 def: "Any brachydactyly type E in which the cause of the disease is a mutation in the HOXD13 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BDE1" EXACT [DOID:0110972, MONDO:Lexical, OMIM:113300] +synonym: "brachydactyly type E caused by mutation in HOXD13" EXACT [MONDO:design_pattern] synonym: "brachydactyly, type E" RELATED [OMIM:113300] synonym: "brachydactyly, type E1" RELATED [MONDO:Lexical, OMIM:113300] synonym: "brachydactyly, type E1; BDE1" RELATED [OMIM:113300] +synonym: "HOXD13 brachydactyly type E" EXACT [MONDO:design_pattern] xref: DOID:0110972 {source="MONDO:equivalentTo"} xref: MESH:C566194 {source="MONDO:equivalentTo"} xref: OMIM:113300 {source="DOID:0110972", source="MONDO:equivalentTo"} @@ -126529,7 +127765,7 @@ synonym: "Bof syndrome" RELATED [OMIM:113620] synonym: "BOFS" EXACT [MONDO:Lexical, OMIM:113620, Orphanet:1297] synonym: "BOFS syndrome" RELATED [GARD:0003212] synonym: "branchial clefts with characteristic facies growth retardation imperforate nasolacrimal duct and premature aging" RELATED [GARD:0003212] -synonym: "branchial clefts with characteristic facies, Growth retardation, imperforate nasolacrimal duct, and premature Aging" RELATED [OMIM:113620] +synonym: "branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature Aging" RELATED [OMIM:113620] synonym: "Branchio-oculo-facial syndrome" RELATED [Orphanet:1297] synonym: "branchiooculofacial syndrome" EXACT [MONDO:Lexical, OMIM:113620] synonym: "branchiooculofacial syndrome; BOFS" RELATED [OMIM:113620] @@ -126678,10 +127914,12 @@ synonym: "Lev disease" RELATED [https://en.wikipedia.org/wiki/Lev%27s_disease] synonym: "PFHB1A" EXACT [DOID:0111074, MONDO:Lexical, OMIM:113900] synonym: "PFHB1A" RELATED [GARD:0001093] synonym: "Pfhbia" RELATED [OMIM:113900] +synonym: "progressive familial heart block caused by mutation in SCN5A" EXACT [MONDO:design_pattern] synonym: "progressive familial heart block type 1A" RELATED [GARD:0001093] synonym: "progressive familial heart block type IA" RELATED [DOID:0111074] synonym: "progressive familial heart block, type IA" EXACT [MONDO:Lexical, OMIM:113900] synonym: "progressive familial heart block, type IA; PFHB1A" RELATED [OMIM:113900] +synonym: "SCN5A progressive familial heart block" EXACT [MONDO:design_pattern] xref: COHD:313791 {source="MONDO:equivalentTo"} xref: DOID:0111074 {source="MONDO:equivalentTo"} xref: EFO:0004138 {source="MONDO:equivalentTo"} @@ -126710,7 +127948,7 @@ xref: MESH:C562759 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:113950 {source="MONDO:equivalentTo"} xref: SCTID:233919006 {source="MONDO:kboom-pr-0.74/0.37/0.51", source="MONDO:equivalentTo"} xref: UMLS:C0340504 {source="NCBI:mim2gene_medline", source="OMIM:113950", source="MONDO:equivalentTo"} -is_a: MONDO:0001662 {source="MONDO:cjm", source="linkedlife"} ! right bundle branch block (disease) +is_a: MONDO:0001662 {source="MONDO:cjm", source="linkedlifedata"} ! right bundle branch block (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -126794,7 +128032,7 @@ xref: SCTID:123258003 {source="DOID:4257"} xref: SCTID:24752008 {source="DOID:4257", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0020497 {source="NCBI:mim2gene_medline", source="DOID:4257", source="OMIM:114000", source="MEDGEN:kboom-pr97-c99", source="Orphanet:1310", source="MONDO:equivalentTo"} xref: UMLS:C1861980 {source="OMIM:114000"} -is_a: MONDO:0002185 {source="NCIT:C118423"} ! hyperostosis +is_a: MONDO:0002185 {source="MESH:D006958", source="NCIT:C118423", source="linkedlifedata"} ! hyperostosis is_a: MONDO:0002614 {source="DOID:4257"} ! bone inflammation disease is_a: MONDO:0019702 {source="Orphanet:1310"} ! neonatal osteosclerotic dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2197 {source="mim2gene_medgen"} ! COL1A1 @@ -127047,7 +128285,7 @@ xref: SCTID:269595005 {source="DOID:1612"} xref: UMLS:C0006142 {source="NCIT:C9335"} xref: UMLS:C0153555 {source="DOID:1612"} xref: UMLS:C1458155 {source="DOID:1612"} -is_a: MONDO:0003274 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! thoracic cancer +is_a: MONDO:0003274 {source="DOID:1612", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! thoracic cancer is_a: MONDO:0021100 {source="MONDO:Entailed", source="NCIT:C9335", source="OWLReasoner:2017", source="linkedlifedata"} ! breast neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000310 ! breast @@ -127108,7 +128346,7 @@ xref: UMLS:C0279607 {source="DOID:684", source="MONDO:superClassOf"} xref: UMLS:C0345904 {source="OMIM:114550", source="MONDO:subClassOf"} xref: UMLS:C2239176 {source="NCBI:mim2gene_medline", source="Orphanet:88673", source="OMIM:114550"} xref: UMLS:C2676033 {source="OMIM:114550"} -is_a: MONDO:0002691 {source="DOID:686", source="MONDO:Redundant", source="NCIT:C3099/inferred"} ! liver cancer +is_a: MONDO:0002691 {source="DOID:684/inferred", source="DOID:686", source="MONDO:Redundant", source="NCIT:C3099/inferred"} ! liver cancer is_a: MONDO:0004970 {source="MESH:D006528", source="NCIT:C3099"} ! adenocarcinoma is_a: MONDO:0018531 {source="NCIT:C3099", source="Orphanet:88673"} ! carcinoma of liver and intrahepatic biliary tract intersection_of: MONDO:0004993 ! carcinoma @@ -127233,8 +128471,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/36 id: MONDO:0007265 name: cardiofaciocutaneous syndrome 1 def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the BRAF gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BRAF cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern] synonym: "cardiofaciocutaneous syndrome 1" EXACT [MONDO:Lexical, OMIM:115150] synonym: "cardiofaciocutaneous syndrome 1; CFC1" RELATED [OMIM:115150] +synonym: "cardiofaciocutaneous syndrome caused by mutation in BRAF" EXACT [MONDO:design_pattern] synonym: "cardiofaciocutaneous syndrome type 1" EXACT [MONDORULE:1, OMIM:115150] synonym: "CFC syndrome" RELATED [OMIM:115150] synonym: "CFC1" RELATED [MONDO:Lexical, OMIM:115150] @@ -127258,15 +128498,17 @@ synonym: "cardiomyopathy, familial hypertrophic, 2" RELATED [MONDO:Lexical, OMIM synonym: "cardiomyopathy, familial hypertrophic, 2; CMH2" RELATED [OMIM:115195] synonym: "cardiomyopathy, familial hypertrophic, type 2" EXACT [MONDORULE:1, OMIM:115195] synonym: "CMH2" EXACT [DOID:0110308, MONDO:Lexical, OMIM:115195] +synonym: "hypertrophic cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 2" EXACT [DOID:0110308, MONDORULE:1] +synonym: "TNNT2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110308 {source="MONDO:equivalentTo"} xref: MESH:C566171 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C142892 {source="MONDO:equivalentTo"} xref: OMIM:115195 {source="DOID:0110308", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:115195"} xref: UMLS:C1861864 {source="NCBI:mim2gene_medline", source="OMIM:115195", source="MONDO:equivalentTo"} -is_a: MONDO:0005045 {source="DC-OMIM:115195", source="DOID:0110308", source="MESH:C566171/inferred", source="MONDO:Redundant", source="OMIM:115195"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDOLEX:0007266", source="OMIM", source="OMIM:115195"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0005045 {source="DC-OMIM:115195", source="DOID:0110308", source="MESH:C566171/inferred", source="MONDO:Redundant", source="NCIT:C142892/inferred", source="OMIM:115195"} ! hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="MESH:C566171", source="MONDOLEX:0007266", source="NCIT:C142892", source="OMIM", source="OMIM:115195"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11949 ! TNNT2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11949 {source="mim2gene_medgen"} ! TNNT2 @@ -127280,14 +128522,16 @@ synonym: "cardiomyopathy, familial hypertrophic, 3" RELATED [MONDO:Lexical, OMIM synonym: "cardiomyopathy, familial hypertrophic, 3; CMH3" RELATED [OMIM:115196] synonym: "cardiomyopathy, familial hypertrophic, type 3" EXACT [MONDORULE:1, OMIM:115196] synonym: "CMH3" EXACT [DOID:0110309, MONDO:Lexical, OMIM:115196] +synonym: "hypertrophic cardiomyopathy caused by mutation in TPM1" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 3" EXACT [DOID:0110309, MONDORULE:1] +synonym: "TPM1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110309 {source="MONDO:equivalentTo"} xref: MESH:C566170 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:115196 {source="DOID:0110309", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:115196"} xref: UMLS:C1861863 {source="NCBI:mim2gene_medline", source="OMIM:115196", source="MONDO:equivalentTo"} is_a: MONDO:0005045 {source="DC-OMIM:115196", source="DOID:0110309", source="MESH:C566170/inferred", source="MONDO:Redundant", source="OMIM:115196"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDOLEX:0007267", source="OMIM", source="OMIM:115196"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="MESH:C566170", source="MONDOLEX:0007267", source="OMIM", source="OMIM:115196"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12010 ! TPM1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12010 {source="mim2gene_medgen"} ! TPM1 @@ -127304,7 +128548,9 @@ synonym: "cardiomyopathy, familial hypertrophic, 4; CMH4" RELATED [OMIM:115197] synonym: "cardiomyopathy, familial hypertrophic, type 4" EXACT [MONDORULE:1, OMIM:115197] synonym: "CMH4" EXACT [DOID:0110310, MONDO:Lexical, OMIM:115197] synonym: "familial hypertrophic cardiomyopathy type 4" EXACT [NCIT:C133725] +synonym: "hypertrophic cardiomyopathy caused by mutation in MYBPC3" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 4" EXACT [DOID:0110310, MONDORULE:1] +synonym: "MYBPC3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110310 {source="MONDO:equivalentTo"} xref: MESH:C566169 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C133725 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} @@ -127313,7 +128559,7 @@ xref: Orphanet:155 {source="OMIM:115197"} xref: UMLS:C1861862 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:115197", source="MONDO:equivalentTo"} xref: UMLS:C2751427 {source="OMIM:115197"} is_a: MONDO:0005045 {source="DC-OMIM:115197", source="DOID:0110310", source="MESH:C566169/inferred", source="MONDO:Redundant", source="NCIT:C133725", source="NCIT:C133725/inferred", source="OMIM:115197"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDOLEX:0007268", source="NCIT:C133725", source="OMIM", source="OMIM:115197"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="MESH:C566169", source="MONDOLEX:0007268", source="NCIT:C133725", source="OMIM", source="OMIM:115197"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7551 ! MYBPC3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7551 {source="mim2gene_medgen"} ! MYBPC3 @@ -127337,6 +128583,8 @@ synonym: "CMD1A" RELATED [MONDO:Lexical, OMIM:115200] synonym: "dilated cardiomyopathy type 1A" EXACT [DOID:0110425, MONDORULE:4] synonym: "dilated cardiomyopathy with conduction defect 1" EXACT [DOID:0110425] synonym: "familial dilated cardiomyopathy with conduction defect due to LMNA mutation" EXACT [DOID:0110425] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in LMNA" EXACT [MONDO:design_pattern] +synonym: "LMNA familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110425 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="ORDO:300751/attributed", source="Orphanet:300751", source="ORDO:300751/ntbt", source="MONDO:subClassOf"} xref: OMIM:115200 {source="ORDO:300751/e", source="Orphanet:300751", source="DOID:0110425", source="MONDO:equivalentTo"} @@ -127356,8 +128604,10 @@ def: "Any familial isolated restrictive cardiomyopathy in which the cause of the synonym: "cardiomyopathy, familial restrictive, 1" EXACT [MONDO:Lexical, OMIM:115210] synonym: "cardiomyopathy, familial restrictive, 1; RCM1" RELATED [OMIM:115210] synonym: "cardiomyopathy, familial restrictive, type 1" EXACT [MONDORULE:1, OMIM:115210] +synonym: "familial isolated restrictive cardiomyopathy caused by mutation in TNNI3" EXACT [MONDO:design_pattern] synonym: "Rcm" RELATED [OMIM:115210] synonym: "RCM1" RELATED [MONDO:Lexical, OMIM:115210] +synonym: "TNNI3 familial isolated restrictive cardiomyopathy" EXACT [MONDO:design_pattern] xref: MESH:C566168 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:115210 {source="MONDO:equivalentTo"} xref: Orphanet:75249 {source="OMIM:115210", source="MONDO:subClassOf"} @@ -127413,6 +128663,7 @@ name: paragangliomas 4 def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHB gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010546"} synonym: "carotid body tumors and multiple extraadrenal Pheochromocytomas" RELATED [OMIM:115310] +synonym: "paraganglioma caused by mutation in SDHB" EXACT [MONDO:design_pattern] synonym: "paraganglioma, familial malignant" RELATED [OMIM:115310] synonym: "paragangliomas 4" EXACT [MONDO:Lexical, OMIM:115310] synonym: "paragangliomas 4; PGL4" RELATED [OMIM:115310] @@ -127422,6 +128673,7 @@ synonym: "PGL4" RELATED [MONDO:Lexical, OMIM:115310] synonym: "pheochromocytoma, extraadrenal and cervical paraganglioma" RELATED [GARD:0010546] synonym: "pheochromocytoma, extraadrenal, and cervical paraganglioma" RELATED [OMIM:115310] synonym: "pheochromocytoma, familial extraadrenal" RELATED [OMIM:115310] +synonym: "SDHB paraganglioma" EXACT [MONDO:design_pattern] synonym: "SDHB-Related hereditary paraganglioma-pheochromocytoma syndrome" RELATED [GARD:0010546] xref: GARD:0010546 {source="MONDO:equivalentTo"} xref: OMIM:115310 {source="MONDO:equivalentTo"} @@ -127475,7 +128727,7 @@ xref: SCTID:246611002 {source="DOID:12169"} xref: SCTID:57406009 {source="EFO:0004143", source="MONDO:kboom-pr-0.88/0.76/0.10", source="DOID:12169", source="MONDO:equivalentTo"} xref: UMLS:C0007286 {source="NCIT:C34450", source="NCBI:mim2gene_medline", source="OMIM:115430", source="DOID:12169", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0007275", source="NCIT:C34450"} ! syndromic disease -is_a: MONDO:0003615 {source="DOID:12169", source="MESH:D002349", source="linkedlifedata"} ! nerve compression syndrome +is_a: MONDO:0003615 {source="DOID:12169", source="MESH:D002349", source="linkedlifedata", source="linkedlifedata/inferred"} ! nerve compression syndrome is_a: MONDO:0003847 ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12405 {source="mim2gene_medgen"} ! TTR @@ -127554,7 +128806,7 @@ xref: Orphanet:98988 {source="OMIM:115650", source="MONDO:subClassOf", source="M xref: Orphanet:98993 {source="OMIM:115650", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C1413785 {source="OMIM:115650"} xref: UMLS:C1855179 {source="NCBI:mim2gene_medline", source="MONDO:relatedTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:115650"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110227", source="MONDO:Redundant", source="OMIM:115650"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract property_value: confidence "3.3019579861886594" xsd:double @@ -127577,7 +128829,7 @@ xref: OMIM:115660 {source="DOID:0110260", source="MONDO:equivalentTo"} xref: Orphanet:217052 {source="OMIM:115660"} xref: Orphanet:98989 {source="OMIM:115660", source="MONDO:subClassOf"} xref: UMLS:C0344523 {source="NCBI:mim2gene_medline", source="OMIM:115660"} -is_a: MONDO:0005129 {source="MONDO:Redundant", source="OMIM:115660"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID:0110260", source="MONDO:Redundant", source="OMIM:115660"} ! cataract (disease) is_a: MONDO:0020374 {source="ORDO:98989/btnt"} ! cerulean cataract property_value: confidence "3.3019579861886594" xsd:double @@ -127600,7 +128852,7 @@ xref: OMIM:115665 {source="DOID:0110228", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:115665"} xref: Orphanet:98983 {source="OMIM:115665"} xref: UMLS:C1861833 {source="NCBI:mim2gene_medline", source="OMIM:115665", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} -is_a: MONDO:0005129 {source="MESH:C538285", source="MONDO:Redundant", source="OMIM:115665"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID:0110228", source="MESH:C538285", source="MONDO:Redundant", source="OMIM:115665"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract property_value: confidence "3.3019579861886594" xsd:double @@ -127656,7 +128908,7 @@ xref: Orphanet:91492 {source="OMIM:115800", source="MONDO:subClassOf"} xref: Orphanet:98990 {source="OMIM:115800", source="DOID:0110232", source="MONDO:subClassOf"} xref: UMLS:C1861831 {source="NCBI:mim2gene_medline"} xref: UMLS:C3805409 {source="OMIM:115800", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="MONDO:Redundant", source="OMIM:115800"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID:0110232", source="MONDO:Redundant", source="OMIM:115800"} ! cataract (disease) is_a: MONDO:0020375 {source="ORDO:98990/btnt"} ! coralliform cataract property_value: confidence "3.3019579861886594" xsd:double @@ -127669,14 +128921,16 @@ synonym: "A cataract that has_material_basis_in heterozygous mutation in the CRY synonym: "cataract 42" EXACT [MONDO:Lexical, OMIM:115900] synonym: "cataract 42; CTRCT42" RELATED [OMIM:115900] synonym: "cataract type 42" EXACT [DOID:0110237, MONDORULE:2, OMIM:115900] +synonym: "CRYBA2 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] synonym: "CTRCT42" EXACT [DOID:0110237, MONDO:Lexical, OMIM:115900] +synonym: "early-onset non-syndromic cataract caused by mutation in CRYBA2" EXACT [MONDO:design_pattern] xref: DOID:0110237 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110237"} xref: OMIM:115900 {source="DOID:0110237", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="OMIM:115900", source="MONDO:subClassOf"} xref: UMLS:C1861830 {source="OMIM:115900", source="NCBI:mim2gene_medline"} xref: UMLS:C4011454 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="MONDO:Redundant", source="OMIM:115900"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID:0110237", source="MONDO:Redundant", source="OMIM:115900"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2395 ! CRYBA2 @@ -127697,7 +128951,7 @@ xref: Orphanet:91492 {source="OMIM:116100", source="MONDO:subClassOf"} xref: Orphanet:98994 {source="MONDO:directSiblingOf", source="OMIM:116100", source="MONDO:subClassOf"} xref: UMLS:C0524524 {source="NCBI:mim2gene_medline"} xref: UMLS:C3805410 {source="OMIM:116100"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:116100"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110240", source="MONDO:Redundant", source="OMIM:116100"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0005129 ! cataract (disease) intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2417 ! CRYGS @@ -127727,7 +128981,7 @@ xref: Orphanet:1377 {source="OMIM:116200", source="MONDO:subClassOf", source="MO xref: Orphanet:91492 {source="OMIM:116200", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: Orphanet:98984 {source="MONDO:directSiblingOf", source="OMIM:116200", source="MONDO:subClassOf"} xref: UMLS:C1861828 {source="NCBI:mim2gene_medline", source="OMIM:116200", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C566158", source="OMIM:116200"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110231", source="MESH:C566158", source="OMIM:116200"} ! cataract (disease) intersection_of: MONDO:0005129 ! cataract (disease) intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4281 ! GJA8 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4281 {source="mim2gene_medgen"} ! GJA8 @@ -127757,7 +129011,7 @@ xref: Orphanet:91492 {source="OMIM:116300", source="MONDO:subClassOf"} xref: Orphanet:98984 {source="DOID:0110248", source="OMIM:116300", source="MONDO:subClassOf"} xref: UMLS:C1861827 {source="NCBI:mim2gene_medline"} xref: UMLS:C3805411 {source="OMIM:116300", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:116300"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110248", source="MESH:C566157", source="MONDO:Redundant", source="OMIM:116300"} ! cataract (disease) is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract is_a: MONDO:0011430 {source="ORDO:98984/btnt"} ! pulverulent cataract is_a: MONDO:0020377 {source="ORDO:98992/btnt"} ! early-onset partial cataract @@ -127777,6 +129031,8 @@ synonym: "cataract 41; CTRCT41" RELATED [OMIM:116400] synonym: "cataract type 41" EXACT [DOID:0110241, MONDORULE:2, OMIM:116400] synonym: "congenital nuclear type cataract 41" EXACT [DOID:0110241] synonym: "CTRCT41" EXACT [DOID:0110241, MONDO:Lexical, OMIM:116400] +synonym: "early-onset non-syndromic cataract caused by mutation in WFS1" EXACT [MONDO:design_pattern] +synonym: "WFS1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] xref: DOID:0110241 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110241"} xref: OMIM:116400 {source="DOID:0110241", source="MONDO:equivalentTo"} @@ -127784,7 +129040,7 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:116400"} xref: Orphanet:98991 {source="MONDO:subClassOf", source="OMIM:116400"} xref: UMLS:C1861826 {source="NCBI:mim2gene_medline"} xref: UMLS:C3805412 {source="MONDO:equivalentTo", source="OMIM:116400"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:116400"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110241", source="MONDO:Redundant", source="OMIM:116400"} ! cataract (disease) is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract is_a: MONDO:0020376 {source="ORDO:98991/btnt"} ! early-onset nuclear cataract is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt"} ! early-onset partial cataract @@ -127818,7 +129074,7 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:116600"} xref: Orphanet:98993 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:116600"} xref: Orphanet:98994 {source="MONDO:directSiblingOf", source="MONDO:subClassOf", source="OMIM:116600"} xref: UMLS:C1861825 {source="NCBI:mim2gene_medline", source="OMIM:116600"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:116600"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110229", source="MONDO:Redundant", source="OMIM:116600"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0005129 ! cataract (disease) intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3386 ! EPHA2 @@ -127839,7 +129095,7 @@ xref: OMIM:116700 {source="DOID:0110242", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:116700"} xref: UMLS:C0266539 {source="OMIM:116700"} xref: UMLS:C3805373 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:116700"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110242", source="MONDO:Redundant", source="OMIM:116700"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4204 {source="mim2gene_medgen"} ! GCNT2 @@ -127860,7 +129116,7 @@ xref: Orphanet:91492 {source="OMIM:116800", source="MONDO:subClassOf"} xref: Orphanet:98995 {source="OMIM:116800", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C0266537 {source="NCBI:mim2gene_medline"} xref: UMLS:C1861821 {source="OMIM:116800"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C535342", source="MONDO:Redundant", source="OMIM:116800"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110255", source="MESH:C535342", source="MONDO:Redundant", source="OMIM:116800"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0005129 ! cataract (disease) intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5227 ! HSF4 @@ -127901,7 +129157,7 @@ xref: UMLS:C1861786 {source="OMIM:116860"} xref: UMLS:C2919945 {source="OMIM:116860"} xref: UMLS:C2931263 {source="Orphanet:221061", source="MONDO:equivalentTo"} is_a: MONDO:0000820 {source="DC-OMIM:116860", source="MONDO:Entailed"} ! cerebral cavernous malformation -is_a: MONDO:0003847 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:221061/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:221061/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0015145 {source="Orphanet:221061"} ! neurovascular malformation is_a: MONDO:0015953 {source="Orphanet:221061", source="Orphanet:221061/inferred"} ! genetic central nervous system and retinal vascular disease is_a: MONDO:0016232 {source="Orphanet:221061"} ! rare venous malformation @@ -127925,12 +129181,14 @@ id: MONDO:0007293 name: leukocyte adhesion deficiency 1 def: "Leukocyte adhesion deficiency type I (LAD-I) is a form of LAD (see this term) characterized by life-threatening, recurrent bacterial infections." [Orphanet:99842] subset: ordo_clinical_subtype {source="Orphanet:99842"} +synonym: "ITGB2 leukocyte adhesion deficiency" EXACT [MONDO:design_pattern] synonym: "lad" RELATED [MONDO:Lexical, OMIM:116920] synonym: "lad 1" RELATED [GARD:0006893] synonym: "lad-I" EXACT [Orphanet:99842] synonym: "lad-type I" EXACT [NCIT:C4689] synonym: "LAD1" EXACT [DOID:0110910] synonym: "Lad1" RELATED [OMIM:116920] +synonym: "leukocyte adhesion deficiency caused by mutation in ITGB2" EXACT [MONDO:design_pattern] synonym: "leukocyte adhesion deficiency type 1" EXACT [DOID:0110910, MONDORULE:1] synonym: "leukocyte adhesion deficiency type I" EXACT [DOID:0110910] synonym: "leukocyte adhesion deficiency, type 1" RELATED [OMIM:116920] @@ -128043,7 +129301,7 @@ xref: UMLS:C2363129 {source="NCBI:mim2gene_medline", source="Orphanet:1945", sou xref: UMLS:CN200685 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0000414 {source="DOID:3329", source="MONDO:Redundant"} ! childhood electroclinical syndrome is_a: MONDO:0002254 {source="MONDO:0007295/inferred", source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0007295/inferred"} ! syndromic disease -is_a: MONDO:0005027 {source="MONDO:Redundant", source="NCIT:C116538", source="linkedlifedata"} ! epilepsy +is_a: MONDO:0005027 {source="DOID:3329/inferred", source="MONDO:Redundant", source="NCIT:C116538", source="linkedlifedata", source="linkedlifedata/inferred"} ! epilepsy is_a: MONDO:0009509 {source="MONDOLEX:0007295"} ! Landau-Kleffner syndrome is_a: MONDO:0017704 {source="Orphanet:1945"} ! familial partial epilepsy is_a: MONDO:0020072 {source="Orphanet:1945/inferred", comment="http://orcid.org/0000-0001-8486-0558"} ! childhood-onset epilepsy syndrome @@ -128137,9 +129395,11 @@ name: Sotos syndrome 1 def: "Any Sotos syndrome in which the cause of the disease is a mutation in the NSD1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cerebral gigantism" RELATED [OMIM:117550] synonym: "chromosome 5Q35 deletion syndrome" RELATED [OMIM:117550] +synonym: "NSD1 Sotos syndrome" EXACT [MONDO:design_pattern] synonym: "Sotos syndrome" RELATED [OMIM:117550] synonym: "Sotos syndrome 1" EXACT [MONDO:Lexical, OMIM:117550] synonym: "Sotos syndrome 1; SOTOS1" RELATED [OMIM:117550] +synonym: "Sotos syndrome caused by mutation in NSD1" EXACT [MONDO:design_pattern] synonym: "Sotos syndrome type 1" EXACT [MONDORULE:1, OMIM:117550] synonym: "SOTOS1" RELATED [MONDO:Lexical, OMIM:117550] xref: OMIM:117550 {source="MONDO:equivalentTo"} @@ -128225,7 +129485,7 @@ xref: OMIM:117900 {source="MONDO:equivalentTo"} xref: SCTID:72535009 {source="MONDO:kboom-pr-0.89/0.77/0.13", source="MONDO:equivalentTo"} xref: UMLS:C0158779 {source="NCBI:mim2gene_medline", source="OMIM:117900"} is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease -is_a: MONDO:0005381 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! bone disease +is_a: MONDO:0005381 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone disease disjoint_from: UBERON:0018144 {source="MONDO:cjm"} ! cervical rib relationship: disease_has_location UBERON:0002228 ! rib @@ -128252,6 +129512,8 @@ id: MONDO:0007306 name: Klippel-Feil syndrome 1, autosomal dominant def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cervical vertebral fusion, autosomal dominant" RELATED [OMIM:118100] +synonym: "GDF6 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern] +synonym: "isolated Klippel-Feil syndrome caused by mutation in GDF6" EXACT [MONDO:design_pattern] synonym: "Kfs" RELATED [OMIM:118100] synonym: "KFS1" RELATED [MONDO:Lexical, OMIM:118100] synonym: "Klippel-Feil syndrome 1, autosomal dominant" EXACT [MONDO:Lexical, OMIM:118100] @@ -128274,6 +129536,7 @@ subset: ordo_disease {source="Orphanet:101082"} synonym: "autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1B" EXACT [DOID:0110152] synonym: "Charcot Marie Tooth disease type 1B" RELATED [GARD:0001246] synonym: "Charcot-Marie-Tooth disease slow nerve conduction type linked to Duffy" EXACT [DOID:0110152] +synonym: "Charcot-Marie-tooth disease type 1 caused by mutation in MPZ" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1B" RELATED [OMIM:118200] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1B" RELATED [MONDO:Lexical, OMIM:118200] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1B; CMT1B" RELATED [OMIM:118200] @@ -128290,6 +129553,7 @@ synonym: "HMSN IB" EXACT [DOID:0110152] synonym: "Hmsn1" RELATED [OMIM:118200] synonym: "HMSN1B" EXACT [DOID:0110152] synonym: "Hmsn1B" RELATED [OMIM:118200] +synonym: "MPZ Charcot-Marie-tooth disease type 1" EXACT [MONDO:design_pattern] synonym: "peroneal muscular atrophy" EXACT [DOID:0110152] synonym: "peroneal muscular atrophy" RELATED [OMIM:118200] xref: DOID:0110152 {source="MONDO:equivalentTo"} @@ -128300,7 +129564,7 @@ xref: OMIM:118200 {source="DOID:0110152", source="Orphanet:101082", source="ORDO xref: Orphanet:101082 {source="DOID:0110152", source="OMIM:118200", source="MONDO:equivalentTo"} xref: UMLS:C0007959 {source="MONDO:subClassOf", source="OMIM:118200"} xref: UMLS:C0270912 {source="NCIT:C118782", source="Orphanet:101082", source="NCBI:mim2gene_medline", source="ORDO:101082/e", source="OMIM:118200", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="NCIT:C118782", source="OMIM:118200", source="Orphanet:101082/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110152/inferred", source="MONDO:Redundant", source="NCIT:C118782", source="OMIM:118200", source="Orphanet:101082/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0019011 {source="DOID:0110152", source="Orphanet:101082"} ! Charcot-Marie-tooth disease type 1 intersection_of: MONDO:0019011 ! Charcot-Marie-tooth disease type 1 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7225 ! MPZ @@ -128318,6 +129582,7 @@ synonym: "autosomal dominant Charcot-Marie-Tooth disease axonal type 2A1" EXACT synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2A1" RELATED [Orphanet:99946] synonym: "Charcot Marie Tooth disease type 2A" RELATED [GARD:0001248] synonym: "Charcot-Marie-Tooth disease neuronal type 2A1" EXACT [DOID:0110154] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in KIF1B" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2A" EXACT [NCIT:C134952] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A1" RELATED [OMIM:118210] synonym: "Charcot-Marie-Tooth disease, axonal, type 2A" RELATED [GARD:0001248] @@ -128332,12 +129597,13 @@ synonym: "CMT2A" EXACT [NCIT:C134952] synonym: "CMT2A1" EXACT [DOID:0110154, MONDO:Lexical, OMIM:118210, Orphanet:99946] synonym: "hereditary motor and sensory neuropathy 2 A" RELATED [GARD:0001248] synonym: "hereditary motor and sensory neuropathy IIA1" EXACT [DOID:0110154] -synonym: "hereditary motor and sensory neuropathy Iia1" RELATED [OMIM:118210] +synonym: "hereditary motor and sensory neuropathy IIa1" RELATED [OMIM:118210] synonym: "HMSN IIA" RELATED [GARD:0001248] synonym: "HMSN IIA1" EXACT [DOID:0110154] -synonym: "HMSN Iia1" RELATED [OMIM:118210] +synonym: "HMSN IIa1" RELATED [OMIM:118210] synonym: "HMSN2A1" EXACT [DOID:0110154] synonym: "Hmsn2A1" RELATED [OMIM:118210] +synonym: "KIF1B Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110154 {source="MONDO:equivalentTo"} xref: GARD:0001248 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="Orphanet:99946", source="DOID:0110154", source="ORDO:99946/attributed", source="ORDO:99946/ntbt"} @@ -128348,7 +129614,7 @@ xref: Orphanet:99946 {source="DOID:0110154", source="OMIM:118210", source="MONDO xref: SCTID:717016001 {source="MONDO:equivalentTo"} xref: UMLS:C1861678 {source="Orphanet:99946", source="NCBI:mim2gene_medline", source="OMIM:118210"} xref: UMLS:C2079538 {source="NCIT:C134952", source="GARD:0001248"} -is_a: MONDO:0015626 {source="MESH:C566138", source="MONDO:Redundant", source="NCIT:C134952", source="OMIM:118210", source="Orphanet:99946/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110154/inferred", source="MESH:C566138", source="MONDO:Redundant", source="NCIT:C134952", source="OMIM:118210", source="Orphanet:99946/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110154", source="Orphanet:99946"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16636 ! KIF1B @@ -128384,7 +129650,7 @@ xref: NCIT:C75468 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equiva xref: OMIM:118220 {source="Orphanet:101081", source="ORDO:101081/e", source="DOID:0110148", source="MONDO:equivalentTo"} xref: Orphanet:101081 {source="OMIM:118220", source="DOID:0110148", source="MONDO:equivalentTo"} xref: UMLS:C0270911 {source="Orphanet:101081", source="NCIT:C75468", source="OMIM:118220", source="NCBI:mim2gene_medline", source="ORDO:101081/e", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="NCIT:C75468", source="OMIM:118220", source="Orphanet:101081/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110148/inferred", source="MONDO:Redundant", source="NCIT:C75468", source="OMIM:118220", source="Orphanet:101081/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0016950 {source="Orphanet:101081"} ! partial duplication of the short arm of chromosome 17 is_a: MONDO:0019011 {source="DOID:0110148", source="Orphanet:101081"} ! Charcot-Marie-tooth disease type 1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9118 {source="mim2gene_medgen"} ! PMP22 @@ -128428,7 +129694,7 @@ xref: Orphanet:90658 {source="DOID:0110153", source="OMIM:118300", source="MONDO xref: UMLS:C1861669 {source="NCBI:mim2gene_medline", source="Orphanet:90658", source="ORDO:90658/e"} xref: UMLS:C2931686 {source="MONDO:equivalentTo", source="Orphanet:90658", source="ORDO:90658/e"} xref: UMLS:C3495591 {source="OMIM:118300", source="Orphanet:90658"} -is_a: MONDO:0015626 {source="MESH:C537986", source="MONDO:Redundant", source="OMIM:118300", source="Orphanet:90658/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110153/inferred", source="MESH:C537986", source="MONDO:Redundant", source="OMIM:118300", source="Orphanet:90658/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0019011 {source="DOID:0110153", source="Orphanet:90658"} ! Charcot-Marie-tooth disease type 1 is_a: MONDO:0019589 {source="Orphanet:90658"} ! syndromic genetic deafness relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9118 {source="mim2gene_medgen"} ! PMP22 @@ -128709,7 +129975,7 @@ xref: SCTID:271700006 {source="EFO:0004152"} xref: UMLS:C0008489 {source="NCIT:C84633"} xref: UMLS:C0393584 {source="ORDO:1429/e", source="Orphanet:1429", source="OMIM:118700"} xref: UMLS:C1859098 {source="Orphanet:1429", source="MONDO:superClassOf"} -is_a: MONDO:0001595 {source="DC-OMIM:118700", source="linkedlife"} ! choreatic disease +is_a: MONDO:0001595 {source="DC-OMIM:118700", source="linkedlifedata"} ! choreatic disease is_a: MONDO:0005395 {source="MESH:D002819/inferred", source="MONDO:Redundant", source="NCIT:C84633", source="Orphanet:1429/inferred"} ! movement disorder is_a: MONDO:0015548 {source="Orphanet:1429"} ! Huntington disease-like syndrome is_a: MONDO:0017646 {source="Orphanet:1429"} ! neurodegenerative disease with chorea @@ -128736,6 +130002,7 @@ synonym: "choreoathetosis, nonkinesigenic" RELATED [OMIM:118800] synonym: "Dystonia 8" RELATED [OMIM:118800] synonym: "DYT-MR-1" RELATED [GARD:0008722] synonym: "mount-reback syndrome" RELATED [OMIM:118800] +synonym: "paroxysmal dyskinesia caused by mutation in PNKD" EXACT [MONDO:design_pattern] synonym: "paroxysmal dystonic choreoathetosis" RELATED [OMIM:118800] synonym: "paroxysmal non-kinesigenic dyskinesia" RELATED [Orphanet:98810] synonym: "paroxysmal nonkinesigenic dyskinesia 1" EXACT [MONDO:Lexical, OMIM:118800] @@ -128743,6 +130010,7 @@ synonym: "paroxysmal nonkinesigenic dyskinesia 1; PNKD1" RELATED [OMIM:118800] synonym: "paroxysmal nonkinesigenic dyskinesia type 1" EXACT [DOID:0090049, MONDORULE:1, OMIM:118800] synonym: "Paroxysomal nonkinesigenic dyskinesia" RELATED [GARD:0008722] synonym: "Paroxystic non-kinesigenic choreoathetosis" EXACT [Orphanet:98810] +synonym: "PNKD paroxysmal dyskinesia" EXACT [MONDO:design_pattern] synonym: "PNKD1" RELATED [MONDO:Lexical, OMIM:118800] synonym: "PxMD-PNKD" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155] xref: DOID:0090049 {source="MONDO:equivalentTo"} @@ -128755,7 +130023,7 @@ xref: OMIM:118800 {source="Orphanet:98810", source="ORDO:98810/e", source="DOID: xref: OMIM:611147 {source="Orphanet:98810", source="ORDO:98810/btnt", source="MONDO:superClassOf"} xref: Orphanet:98810 {source="OMIM:118800", source="DOID:0090049", source="MONDO:equivalentTo"} xref: UMLS:C1869117 {source="NCBI:mim2gene_medline", source="Orphanet:98810", source="ORDO:98810/e", source="OMIM:118800"} -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:118800"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090049", source="MONDO:Redundant", source="OMIM:118800"} ! dystonic disorder is_a: MONDO:0015427 {source="Orphanet:98810"} ! paroxysmal dyskinesia intersection_of: MONDO:0015427 ! paroxysmal dyskinesia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9153 ! PNKD @@ -128809,7 +130077,7 @@ xref: UMLS:C1876164 {source="OMIM:215600"} xref: UMLS:C1876165 {source="OMIM:215600"} xref: UMLS:C1876166 {source="OMIM:215600"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0005155 ! cirrhosis of liver +is_a: MONDO:0005155 {source="NCIT:C84411", source="linkedlifedata"} ! cirrhosis of liver intersection_of: MONDO:0005155 ! cirrhosis of liver intersection_of: has_modifier MONDO:0021152 ! genetic and inherited property_value: confidence "3.0" xsd:double @@ -128834,6 +130102,7 @@ property_value: confidence "3.533333333333334" xsd:double [Term] id: MONDO:0007331 name: cleft chin +comment: May be obsoleted. See https://github.com/monarch-initiative/hpo-annotation-data/pull/234 synonym: "Chin dimple" RELATED [OMIM:119000] synonym: "cleft chin" EXACT [OMIM:119000] xref: OMIM:119000 {source="MONDO:equivalentTo"} @@ -128866,10 +130135,12 @@ property_value: confidence "2.659611992945326" xsd:double id: MONDO:0007333 name: van der Woude syndrome 1 def: "Any van der Woude syndrome in which the cause of the disease is a mutation in the IRF6 gene." [MONDO:patterns/disease_series_by_gene] -synonym: "cleft 51P and/or palate with mucous cysts of Lower 51P" RELATED [OMIM:119300] +synonym: "cleft lip and/or palate with mucous cysts of Lower lip" RELATED [OMIM:119300] +synonym: "IRF6 van der Woude syndrome" EXACT [MONDO:design_pattern] synonym: "Lip-pit syndrome" RELATED [OMIM:119300] synonym: "van der Woude syndrome 1" EXACT [MONDO:Lexical, OMIM:119300] synonym: "VAN DER Woude syndrome 1; VWS1" RELATED [OMIM:119300] +synonym: "van der Woude syndrome caused by mutation in IRF6" EXACT [MONDO:design_pattern] synonym: "Van Der Woude syndrome type 1" EXACT [MONDORULE:1, OMIM:119300] synonym: "Vdws" RELATED [OMIM:119300] synonym: "VWS1" RELATED [MONDO:Lexical, OMIM:119300] @@ -128917,7 +130188,7 @@ property_value: confidence "6.1428571428571415" xsd:double id: MONDO:0007335 name: OFC1 def: "Cleft lip with or without cleft palate mapped to chromosome 6p24." [NCIT:C124838] -synonym: "cleft 51P with or without cleft palate, nonsyndromic, 1" RELATED [OMIM:119530] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 1" RELATED [OMIM:119530] synonym: "cleft Lip/palate, nonsyndromic" RELATED [OMIM:119530] synonym: "OFC1" EXACT [MONDO:Lexical, OMIM:119530] synonym: "orofacial cleft 1" RELATED [MONDO:Lexical, OMIM:119530] @@ -128929,10 +130200,7 @@ xref: OMIM:119530 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:119530", source="MONDO:subClassOf"} xref: UMLS:C1861537 {source="NCBI:mim2gene_medline", source="OMIM:119530", source="MONDO:equivalentTo"} is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:119530"} ! orofacial cleft -is_a: MONDO:0015420 ! cleft lip and alveolus -is_a: MONDO:0016043 ! isolated cleft lip -is_a: MONDO:0016044 ! cleft lip/palate -property_value: confidence "1.7876687750502525" xsd:double +relationship: has_modifier MONDO:0021128 ! has an isolated presentation [Term] id: MONDO:0007336 @@ -129030,11 +130298,10 @@ synonym: "clefting-ectropion-conical teeth syndrome" EXACT [Orphanet:1997] synonym: "ectropion inferior cleft lip and or palate" RELATED [GARD:0002071] synonym: "ectropion inferior-cleft lip and or palate syndrome" EXACT [Orphanet:1997] synonym: "ectropion inferior-cleft lip and/or palate syndrome" EXACT [Orphanet:1997] -synonym: "ectropion, Inferior, with cleft 51P and/or palate" RELATED [OMIM:119580] +synonym: "ectropion, Inferior, with cleft lip and/or palate" RELATED [OMIM:119580] synonym: "Elsching syndrome" EXACT [Orphanet:1997] synonym: "Elschnig syndrome" RELATED [GARD:0002071, OMIM:119580] -synonym: "Lagophthalmia with bilateral cleft 51P and palate" RELATED [OMIM:119580] -synonym: "Lagophthalmia with bilateral cleft lip and palate" RELATED [GARD:0002071] +synonym: "Lagophthalmia with bilateral cleft lip and palate" RELATED [GARD:0002071, OMIM:119580] synonym: "Lagophthalmia-cleft lip and palate syndrome" EXACT [Orphanet:1997] xref: GARD:0002071 {source="MONDO:equivalentTo"} xref: ICD10:Q87.8 {source="ORDO:1997/ntbt", source="Orphanet:1997", source="ORDO:1997/attributed"} @@ -129267,9 +130534,11 @@ synonym: "cold-induced autoinflammatory syndrome, familial" RELATED [OMIM:120100 synonym: "Cryopyrin-associated periodic syndrome 1" RELATED [OMIM:120100] synonym: "familial cold autoinflammatory syndrome 1" EXACT [MONDO:Lexical, OMIM:120100] synonym: "familial cold autoinflammatory syndrome 1; FCAS1" RELATED [OMIM:120100] +synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRP3" EXACT [MONDO:design_pattern] synonym: "familial cold autoinflammatory syndrome type 1" EXACT [DOID:0090062, MONDORULE:1, OMIM:120100] synonym: "Fcas" RELATED [OMIM:120100] synonym: "FCAS1" RELATED [MONDO:Lexical, OMIM:120100] +synonym: "NLRP3 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern] xref: DOID:0090062 {source="MONDO:equivalentTo"} xref: ICD10:L50.2 {source="DOID:0090062"} xref: OMIM:120100 {source="DOID:0090062", source="MONDO:equivalentTo"} @@ -129402,7 +130671,7 @@ xref: SCTID:44295002 {source="DOID:11975"} xref: UMLS:C0155299 {source="DOID:11975", source="NCBI:mim2gene_medline", source="OMIM:120430"} xref: UMLS:C0393782 {source="OMIM:120430"} is_a: MONDO:0001476 {source="DC-OMIM:120430", source="MESH:C535970"} ! coloboma -is_a: MONDO:0001834 {source="DOID:11975", source="linkedlife/inferred"} ! visual pathway disease +is_a: MONDO:0001834 {source="DOID:11975", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! visual pathway disease is_a: MONDO:0003847 ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8620 {source="mim2gene_medgen"} ! PAX6 @@ -129451,7 +130720,7 @@ xref: OMIM:120435 {source="MONDO:equivalentTo"} xref: Orphanet:144 {source="MONDO:subClassOf", source="OMIM:120435"} xref: UMLS:C1333991 {source="OMIM:120435"} xref: UMLS:C2936783 {source="NCBI:mim2gene_medline", source="NCIT:C6725", source="OMIM:120435"} -is_a: MONDO:0005835 {source="DC-OMIM:120435", source="MONDOLEX:0007356"} ! Lynch syndrome +is_a: MONDO:0005835 {source="DC-OMIM:120435", source="MONDOLEX:0007356", source="NCIT:C6725"} ! Lynch syndrome is_a: MONDO:0018630 {source="MONDO:Redundant", source="NCIT:C6725/inferred", source="OMIM:120435"} ! hereditary nonpolyposis colon cancer relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7325 {source="mim2gene_medgen"} ! MSH2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9121 {source="mim2gene_medgen"} ! PMS1 @@ -129479,7 +130748,7 @@ is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease [Term] id: MONDO:0007359 -name: commissural 51P pits +name: commissural lip pits synonym: "commissural LIP pits" RELATED [OMIM:120500] xref: OMIM:120500 {source="MONDO:equivalentTo"} xref: SCTID:109550008 {source="MONDO:kboom-pr-1.00/0.74/5.89", source="MONDO:equivalentTo"} @@ -129525,12 +130794,14 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in synonym: "cone-Rod dystrophy" RELATED [OMIM:120970] synonym: "cone-rod dystrophy 2" EXACT [MONDO:Lexical, OMIM:120970] synonym: "cone-ROD dystrophy 2; CORD2" RELATED [OMIM:120970] +synonym: "cone-rod dystrophy caused by mutation in CRX" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 2" EXACT [MONDORULE:1, OMIM:120970] synonym: "cone-rod dystrophy type 2" EXACT [DOID:0111005, MONDORULE:1] synonym: "cone-Rod retinal dystrophy" RELATED [OMIM:120970] synonym: "cone-rod retinal dystrophy 2" EXACT [DOID:0111005] synonym: "CORD2" EXACT [DOID:0111005, MONDO:Lexical, OMIM:120970] synonym: "CRD2" EXACT [DOID:0111005] +synonym: "CRX cone-rod dystrophy" EXACT [MONDO:design_pattern] synonym: "RCRD2" EXACT [DOID:0111005] synonym: "retinal cone-Rod dystrophy" RELATED [OMIM:120970] synonym: "retinal cone-rod dystrophy 2" EXACT [DOID:0111005] @@ -129594,8 +130865,10 @@ is_a: MONDO:0019942 {source="DC-OMIM:121070"} ! distal arthrogryposis id: MONDO:0007365 name: seizures, benign familial neonatal, 1 def: "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "benign neonatal seizures caused by mutation in KCNQ2" EXACT [MONDO:design_pattern] synonym: "BFNS1" RELATED [MONDO:Lexical, OMIM:121200] synonym: "epilepsy, benign neonatal, 1, and/or myokymia" RELATED [OMIM:121200] +synonym: "KCNQ2 benign neonatal seizures" EXACT [MONDO:design_pattern] synonym: "seizures, benign familial neonatal, 1" EXACT [MONDO:Lexical, OMIM:121200] synonym: "seizures, benign familial neonatal, 1, and/or myokymia" RELATED [OMIM:121200] synonym: "seizures, benign familial neonatal, 1; BFNS1" RELATED [OMIM:121200] @@ -129617,8 +130890,10 @@ property_value: confidence "1.0647058823529414" xsd:double id: MONDO:0007366 name: seizures, benign familial neonatal, 2 def: "Any benign neonatal seizures in which the cause of the disease is a mutation in the KCNQ3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "benign neonatal seizures caused by mutation in KCNQ3" EXACT [MONDO:design_pattern] synonym: "BFNS2" RELATED [MONDO:Lexical, OMIM:121201] synonym: "convulsions, benign familial neonatal, 2" RELATED [OMIM:121201] +synonym: "KCNQ3 benign neonatal seizures" EXACT [MONDO:design_pattern] synonym: "seizures, benign familial neonatal, 2" EXACT [MONDO:Lexical, OMIM:121201] synonym: "seizures, benign familial neonatal, 2; BFNS2" RELATED [OMIM:121201] synonym: "seizures, benign familial neonatal, type 2" EXACT [MONDORULE:1, OMIM:121201] @@ -129700,8 +130975,8 @@ xref: SCTID:238055004 {source="DOID:13269"} xref: SCTID:7425008 {source="MONDO:kboom-pr-0.90/0.72/0.91", source="DOID:13269", source="MONDO:equivalentTo"} xref: UMLS:C0162531 {source="NCBI:mim2gene_medline", source="ORDO:79273/e", source="DOID:13269", source="Orphanet:79273", source="NCIT:C84759", source="MONDO:equivalentTo", source="OMIM:121300"} xref: UMLS:C0342859 {source="OMIM:121300"} -is_a: MONDO:0002520 {source="DOID:13269", source="Orphanet:79273", source="linkedlifedata"} ! acute hepatic porphyria -is_a: MONDO:0019142 {source="MESH:D046349/inferred", source="MONDO:Redundant", source="MONDOLEX:0007369", source="NCIT:C84759", source="Orphanet:79273/inferred"} ! inherited porphyria +is_a: MONDO:0002520 {source="DOID:13269", source="MESH:D046349", source="Orphanet:79273", source="linkedlifedata"} ! acute hepatic porphyria +is_a: MONDO:0019142 {source="DOID:13269/inferred", source="MESH:D046349/inferred", source="MONDO:Redundant", source="MONDOLEX:0007369", source="NCIT:C84759", source="Orphanet:79273/inferred"} ! inherited porphyria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2321 {source="mim2gene_medgen"} ! CPOX property_value: confidence "3.7222222222222223" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6619/hereditary-coproporphyria xsd:anyURI {source="GARD:0006619"} @@ -129867,7 +131142,7 @@ xref: OMIM:121900 {source="Orphanet:98962", source="ORDO:98962/e", source="MONDO xref: Orphanet:98962 {source="OMIM:121900", source="MONDO:equivalentTo"} xref: SCTID:419039007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.61"} xref: UMLS:C1641846 {source="NCBI:mim2gene_medline", source="Orphanet:98962", source="OMIM:121900", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0020213 {source="Orphanet:98962", source="linkedlifedata"} ! stromal corneal dystrophy +is_a: MONDO:0020213 {source="Orphanet:98962", source="linkedlifedata", source="linkedlifedata/inferred"} ! stromal corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11771 {source="mim2gene_medgen"} ! TGFBI property_value: confidence "12.055555555555557" xsd:double @@ -129935,7 +131210,7 @@ xref: SCTID:1674008 {source="DOID:0060451", source="MONDO:equivalentTo"} xref: SCTID:193833008 {source="DOID:0060451"} xref: UMLS:C0339277 {source="OMIM:122100", source="NCBI:mim2gene_medline", source="Orphanet:98954", source="NCIT:C84795", source="ORDO:98954/e", source="DOID:0060451", source="MONDO:equivalentTo"} is_a: MONDO:0000763 {source="DOID:0060451"} ! epithelial and subepithelial corneal dystrophy -is_a: MONDO:0020212 {source="Orphanet:98954"} ! superficial corneal dystrophy +is_a: MONDO:0020212 {source="Orphanet:98954", source="linkedlifedata"} ! superficial corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6414 {source="mim2gene_medgen"} ! KRT12 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6440 {source="mim2gene_medgen"} ! KRT3 property_value: confidence "28.5138888888889" xsd:double @@ -129967,7 +131242,7 @@ xref: SCTID:419197009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C1690006 {source="OMIM:122200", source="NCBI:mim2gene_medline", source="Orphanet:98964", source="ORDO:98964/e", source="MONDO:equivalentTo"} xref: UMLS:C2931650 {source="Orphanet:98964", source="ORDO:98964/e"} xref: UMLS:CN207224 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0020213 {source="Orphanet:98964", source="linkedlifedata"} ! stromal corneal dystrophy +is_a: MONDO:0020213 {source="Orphanet:98964", source="linkedlifedata", source="linkedlifedata/inferred"} ! stromal corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11771 {source="mim2gene_medgen"} ! TGFBI property_value: confidence "10.74090909090909" xsd:double @@ -130089,8 +131364,10 @@ synonym: "Cdl" RELATED [OMIM:122470] synonym: "CDLS1" RELATED [MONDO:Lexical, OMIM:122470] synonym: "Cornelia de Lange syndrome 1" EXACT [MONDO:Lexical, OMIM:122470] synonym: "Cornelia DE Lange syndrome 1; CDLS1" RELATED [OMIM:122470] +synonym: "Cornelia de Lange syndrome caused by mutation in NIPBL" EXACT [MONDO:design_pattern] synonym: "Cornelia De Lange syndrome type 1" EXACT [MONDORULE:1, OMIM:122470] synonym: "De Lange syndrome" RELATED [OMIM:122470] +synonym: "NIPBL Cornelia de Lange syndrome" EXACT [MONDO:design_pattern] synonym: "typus Degenerativus Amstelodamensis" RELATED [OMIM:122470] xref: ICD9:759.89 {source="i2s", source="MONDO:relatedTo"} xref: OMIM:122470 {source="MONDO:equivalentTo"} @@ -130135,9 +131412,11 @@ synonym: "SCDO5" RELATED [MONDO:Lexical, OMIM:122600] synonym: "scoliosis, congenital, with or without rib anomalies" RELATED [OMIM:122600] synonym: "spondylocostal dysostosis 5" EXACT [MONDO:Lexical, OMIM:122600] synonym: "spondylocostal dysostosis 5; SCDO5" RELATED [OMIM:122600] +synonym: "spondylocostal dysostosis caused by mutation in TBX6" EXACT [MONDO:design_pattern] synonym: "spondylocostal dysostosis type 5" EXACT [MONDORULE:1, OMIM:122600] synonym: "spondylocostal dysplasia" RELATED [OMIM:122600] synonym: "Spondylothoracic dysostosis" RELATED [OMIM:122600] +synonym: "TBX6 spondylocostal dysostosis" EXACT [MONDO:design_pattern] xref: GARD:0012806 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:122600 {source="MONDO:equivalentTo"} xref: Orphanet:1797 {source="OMIM:122600", source="MONDO:relatedTo", source="MONDO:superClassOf"} @@ -130373,7 +131652,7 @@ xref: Orphanet:1538 {source="GARD:0001592", source="OMIM:123155", source="MONDO: xref: SCTID:720813007 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"} xref: UMLS:C1838347 {source="NCBI:mim2gene_medline", source="OMIM:123155"} xref: UMLS:C1852488 {source="GARD:0001592"} -is_a: MONDO:0001150 {source="DC-OMIM:123155"} ! hydrocephalus +is_a: MONDO:0001150 {source="DC-OMIM:123155", source="MESH:C563973"} ! hydrocephalus is_a: MONDO:0015704 {source="Orphanet:1538"} ! familial scaphocephaly syndrome is_a: MONDO:0017121 {source="Orphanet:1538"} ! syndrome with a Dandy-Walker malformation as major feature property_value: confidence "8.333333333333334" xsd:double @@ -130493,7 +131772,7 @@ xref: SCTID:28861008 {source="MONDO:kboom-pr-0.77/0.42/0.59", source="DOID:2339" xref: UMLS:C0010273 {source="OMIM:123500", source="NCBI:mim2gene_medline", source="NCIT:C84653", source="DOID:2339"} xref: UMLS:C2931196 {source="OMIM:123500"} is_a: MONDO:0015338 {source="Orphanet:207"} ! syndromic craniosynostosis -is_a: MONDO:0018234 {source="MESH:D003394", source="MONDO:Redundant", source="NCIT:C84653", source="Orphanet:207/inferred"} ! dysostosis +is_a: MONDO:0018234 {source="DOID:2339/inferred", source="MESH:D003394", source="MONDO:Redundant", source="NCIT:C84653", source="Orphanet:207/inferred"} ! dysostosis is_a: MONDO:0020254 {source="Orphanet:207"} ! craniostenosis associated with a strabismus relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3689 {source="mim2gene_medgen"} ! FGFR2 property_value: confidence "5.666666666666665" xsd:double @@ -130601,16 +131880,18 @@ name: cutis laxa, autosomal dominant 1 def: "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the ELN gene." [MONDO:patterns/disease_series_by_gene] synonym: "ADCL1" EXACT [DOID:0070130, MONDO:Lexical, OMIM:123700] synonym: "autosomal dominant cutis laxa 1" RELATED [DOID:0070130] +synonym: "autosomal dominant cutis laxa caused by mutation in ELN" EXACT [MONDO:design_pattern] synonym: "cutis laxa, autosomal dominant 1" EXACT [MONDO:Lexical, OMIM:123700] synonym: "cutis laxa, autosomal dominant 1; ADCL1" RELATED [OMIM:123700] synonym: "cutis laxa, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:123700] +synonym: "ELN autosomal dominant cutis laxa" EXACT [MONDO:design_pattern] xref: DOID:0070130 {source="MONDO:equivalentTo"} xref: ICD10:Q82.8 {source="DOID:0070130"} xref: OMIM:123700 {source="DOID:0070130", source="MONDO:equivalentTo"} xref: Orphanet:90348 {source="OMIM:123700", source="MONDO:subClassOf"} xref: UMLS:C3276539 {source="NCBI:mim2gene_medline", source="OMIM:123700", source="MONDO:equivalentTo"} -is_a: MONDO:0016175 {source="MONDO:Redundant", source="OMIM:123700"} ! cutis laxa -is_a: MONDO:0019571 {source="MONDOLEX:0007411", source="ORDO:90348/btnt"} ! autosomal dominant cutis laxa +is_a: MONDO:0016175 {source="DOID:0070130/inferred", source="MONDO:Redundant", source="OMIM:123700"} ! cutis laxa +is_a: MONDO:0019571 {source="DOID:0070130", source="MONDOLEX:0007411", source="ORDO:90348/btnt"} ! autosomal dominant cutis laxa intersection_of: MONDO:0019571 ! autosomal dominant cutis laxa intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3327 ! ELN relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3327 {source="mim2gene_medgen"} ! ELN @@ -130705,10 +131986,12 @@ id: MONDO:0007415 name: mitochondrial complex III deficiency nuclear type 1 def: "Mitochondrial complex III deficiency is one of several conditions caused by dysfunction of mitochondria , which are specialized compartments in cells that generate more than 90% of the energy required by the body. It is a severe, multisystem disorder that includes features such as lactic acidosis , hypotonia , hypoglycemia , failure to thrive , encephalopathy , and delayed psychomotor development. Involvement of internal organs, includingliver diseaseand renal tubulopathy, may also occur. Symptoms typically begin at birth. Many affected individuals die in early childhood, but some have survived longer. It is generallycaused by mutations in nuclear DNA in the BCS1L , UQCRB and UQCRQ genes and inherited in an autosomal recessive manner.However,it may also be caused bymutations in mitochondrial DNA in the MTCYB gene, which is passed down maternally or occurs sporadically and may result in a milder form of the condition. Treatment generally focuses on alleviating symptoms and/or slowing down the progression of the disease,and effectiveness can vary among individuals." [GARD:0008295] subset: gard_rare +synonym: "BCS1L mitochondrial complex III deficiency" EXACT [MONDO:design_pattern] synonym: "Complex 3 mitochondrial respiratory chain deficiency" RELATED [GARD:0008295] synonym: "MC3DN1" RELATED [MESH:C565128, MONDO:Lexical, OMIM:124000] synonym: "mitochondrial Complex 3 deficiency, nuclear type 1" RELATED [OMIM:124000] synonym: "mitochondrial complex III deficiency" RELATED [GARD:0008295] +synonym: "mitochondrial complex III deficiency caused by mutation in BCS1L" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 1" RELATED [MESH:C565128, MONDO:Lexical, OMIM:124000] synonym: "mitochondrial complex III deficiency, nuclear type 1; MC3DN1" RELATED [OMIM:124000] xref: DOID:0080111 {source="MONDO:equivalentTo"} @@ -130720,8 +132003,8 @@ xref: Orphanet:254902 {source="OMIM:124000", source="MONDO:superClassOf"} xref: UMLS:C1852372 {source="NCBI:mim2gene_medline", source="GARD:0008295"} xref: UMLS:C3541471 {source="OMIM:124000"} is_a: MONDO:0000066 {source="DC-OMIM:124000"} ! mitochondrial complex deficiency -is_a: MONDO:0004069 {source="MESH:C565128", source="MONDO:Redundant"} ! inborn mitochondrial metabolism disorder -is_a: MONDO:0015448 {source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0004069 {source="DOID:0080111/inferred", source="MESH:C565128", source="MONDO:Redundant"} ! inborn mitochondrial metabolism disorder +is_a: MONDO:0015448 {source="DOID:0080111", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1020 ! BCS1L relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1020 {source="mim2gene_medgen"} ! BCS1L @@ -130756,7 +132039,7 @@ xref: SCTID:197748005 {source="DOID:3052"} xref: SCTID:26121002 {source="DOID:3052", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0004698 {source="NCBI:mim2gene_medline", source="NCIT:C123025", source="DOID:3052", source="OMIM:124100", source="MONDO:equivalentTo"} xref: UMLS:C4049993 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"} -is_a: MONDO:0001085 {source="DOID:3052", source="MESH:D001449", source="linkedlifedata"} ! interstitial nephritis +is_a: MONDO:0001085 {source="DOID:3052", source="MESH:D001449", source="linkedlifedata", source="linkedlifedata/inferred"} ! interstitial nephritis is_a: MONDO:0003847 {source="MONDO:Redundant"} ! inherited genetic disease [Term] @@ -130868,7 +132151,7 @@ xref: OMIM:124490 {source="Orphanet:3232", source="ORDO:3232/e", source="MONDO:e xref: Orphanet:3232 {source="OMIM:124490", source="MONDO:equivalentTo"} xref: SCTID:716243005 {source="MONDO:kboom-pr-0.76/0.38/0.67", source="MONDO:equivalentTo"} xref: UMLS:C1852292 {source="NCBI:mim2gene_medline", source="OMIM:124490"} -is_a: MONDO:0003847 {source="Orphanet:3232/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="Orphanet:3232/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0019589 {source="Orphanet:3232"} ! syndromic genetic deafness property_value: confidence "8.333333333333334" xsd:double @@ -130913,6 +132196,7 @@ id: MONDO:0007424 name: autosomal dominant nonsyndromic deafness 1 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIAPH1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 1" EXACT [DOID:0110541] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in DIAPH1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 1" EXACT [DOID:0110541, MONDORULE:1] synonym: "deafness, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:124900] synonym: "deafness, autosomal dominant 1, with or without thrombocytopenia" RELATED [OMIM:124900] @@ -130921,6 +132205,7 @@ synonym: "deafness, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:124900] synonym: "deafness, progressive Low tone" RELATED [OMIM:124900] synonym: "DFNA1" EXACT [DOID:0110541] synonym: "DFNA1" RELATED [MONDO:Lexical, OMIM:124900] +synonym: "DIAPH1 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "hereditary Low frequency hearing loss" RELATED [OMIM:124900] synonym: "hereditary low frequency hearing loss 1" EXACT [DOID:0110541] synonym: "Konigsmark syndrome" EXACT [DOID:0110541, OMIM:124900] @@ -131051,13 +132336,12 @@ xref: SCTID:390936003 {source="DOID:13945", source="MONDO:kboom-pr-1.00/0.91/27. xref: UMLS:C0751587 {source="Orphanet:136", source="DOID:13945", source="ORDO:136/e", source="NCIT:C84606", source="OMIM:125310", source="MONDO:equivalentTo"} xref: UMLS:C1272305 {source="NCBI:mim2gene_medline"} is_a: MONDO:0002254 {source="MONDOLEX:0007432", source="NCIT:C84606"} ! syndromic disease -is_a: MONDO:0004884 {source="OWLReasoner:2017"} ! eye degenerative disease is_a: MONDO:0015547 {source="MONDO:Entailed", source="Orphanet:136", source="Orphanet:136/inferred"} ! genetic dementia is_a: MONDO:0018787 {source="Orphanet:136"} ! genetic cerebral small vessel disease -is_a: MONDO:0019046 {source="DOID:13945"} ! leukodystrophy is_a: MONDO:0020144 {source="Orphanet:136"} ! cerebrovascular dementia is_a: MONDO:0020262 {source="Orphanet:136"} ! nervous system anomaly with eye involvement relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7883 {source="mim2gene_medgen"} ! NOTCH3 +relationship: excluded_subClassOf MONDO:0019046 {source="DOID:13945"} ! leukodystrophy property_value: confidence "0.9675925925925928" xsd:double [Term] @@ -131133,7 +132417,7 @@ xref: UMLS:C0751779 {source="DOID:0060162"} xref: UMLS:C0751780 {source="DOID:0060162"} xref: UMLS:C0751781 {source="Orphanet:101", source="NCBI:mim2gene_medline", source="DOID:0060162", source="NCIT:C122653", source="OMIM:125370", source="MONDO:equivalentTo", source="ORDO:101/e"} xref: UMLS:C0751782 {source="DOID:0060162"} -is_a: MONDO:0005559 {source="MONDO:Redundant", source="NCIT:C122653", source="Orphanet:101/inferred"} ! neurodegenerative disease +is_a: MONDO:0005559 {source="DOID:0060162/inferred", source="MONDO:Redundant", source="NCIT:C122653", source="Orphanet:101/inferred"} ! neurodegenerative disease is_a: MONDO:0015548 {source="Orphanet:101"} ! Huntington disease-like syndrome is_a: MONDO:0019794 {source="Orphanet:101"} ! autosomal dominant cerebellar ataxia type IV relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3033 {source="mim2gene_medgen"} ! ATN1 @@ -131200,7 +132484,7 @@ xref: Orphanet:99791 {source="OMIM:125420", source="MONDO:equivalentTo"} xref: SCTID:109494000 {source="MONDO:kboom-pr-0.80/0.44/0.91", source="MONDO:equivalentTo"} xref: UMLS:C0399380 {source="OMIM:125420", source="Orphanet:99791"} xref: UMLS:C1527284 {source="NCBI:mim2gene_medline", source="OMIM:125420"} -is_a: MONDO:0003847 {source="Orphanet:99791/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="Orphanet:99791/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0015613 {source="DC-OMIM:125420", source="OMIM:125420", source="Orphanet:99791"} ! dentin dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3054 {source="mim2gene_medgen"} ! DSPP property_value: confidence "0.5000000000000002" xsd:double @@ -131245,9 +132529,9 @@ synonym: "manic-depressive psychosis, autosomal" RELATED [OMIM:125480] xref: DOID:0080220 {source="MONDO:equivalentTo"} xref: OMIM:125480 {source="DOID:0080220", source="MONDO:equivalentTo"} xref: UMLS:C1852197 {source="NCBI:mim2gene_medline", source="OMIM:125480"} -is_a: MONDO:0001866 {source="DOID:0080220"} ! bipolar I disorder is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0004985 {source="DC-OMIM:125480", source="MONDO:cjm"} ! bipolar disorder +is_a: MONDO:0004985 {source="DC-OMIM:125480", source="DOID:0080220/inferred", source="MONDO:cjm"} ! bipolar disorder +relationship: excluded_subClassOf MONDO:0001866 {source="DOID:0080220"} ! bipolar I disorder [Term] id: MONDO:0007441 @@ -131262,7 +132546,7 @@ synonym: "dentinogenesis imperfecta type 1" EXACT [MONDORULE:1, OMIM:125490] synonym: "dentinogenesis imperfecta without osteogenesis imperfecta" RELATED [OMIM:125490] synonym: "dentinogenesis imperfecta, Shields type 2" EXACT [OMIM:125490, Orphanet:166260] synonym: "DGI-2" EXACT [Orphanet:166260] -synonym: "DGI-Ii" RELATED [OMIM:125490] +synonym: "DGI-II" RELATED [OMIM:125490] synonym: "DGI1" RELATED [MONDO:Lexical, OMIM:125490] synonym: "DI-2" EXACT [Orphanet:166260] synonym: "opalescent dentin" RELATED [OMIM:125490] @@ -131290,7 +132574,7 @@ synonym: "dentinogenesis imperfecta Shields type 3" RELATED [GARD:0010144] synonym: "dentinogenesis imperfecta type III" RELATED [GARD:0010144] synonym: "dentinogenesis imperfecta, Shields type 3" EXACT [Orphanet:166265] synonym: "dentinogenesis imperfecta, Shields type III" RELATED [OMIM:125500] -synonym: "DGI-Iii" RELATED [OMIM:125500] +synonym: "DGI-III" RELATED [OMIM:125500] xref: GARD:0010144 {source="MONDO:equivalentTo"} xref: ICD10:K00.5 {source="ORDO:166265/attributed", source="ORDO:166265/ntbt", source="Orphanet:166265"} xref: ICD9:520.5 {source="i2s", source="MONDO:relatedTo"} @@ -131353,7 +132637,7 @@ xref: Orphanet:86920 {source="OMIM:125595", source="MONDO:equivalentTo"} xref: SCTID:239088003 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0406778 {source="NCBI:mim2gene_medline", source="ORDO:86920/e", source="OMIM:125595", source="Orphanet:86920"} is_a: MONDO:0019287 {source="Orphanet:86920"} ! ectodermal dysplasia syndrome -is_a: MONDO:0019289 {source="Orphanet:86920", source="linkedlifedata"} ! hyperpigmentation of the skin +is_a: MONDO:0019289 {source="Orphanet:86920", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin is_a: MONDO:0020094 {source="Orphanet:86920"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6416 {source="mim2gene_medgen"} ! KRT14 property_value: confidence "4.277777777777778" xsd:double @@ -131389,6 +132673,7 @@ subset: ordo_disease synonym: "DDU" RELATED [MONDO:Lexical, OMIM:125630] synonym: "dermodistortive urticaria" RELATED [MONDO:Lexical, OMIM:125630] synonym: "dermodistortive urticaria; DDU" RELATED [OMIM:125630] +synonym: "vibratory urticaria, autosomal dominant" EXACT [MONDO:design_pattern] synonym: "vibratory urticaria; VBU" RELATED [OMIM:125630] xref: OMIM:125630 {source="Orphanet:493342", source="MONDO:equivalentTo"} xref: Orphanet:493342 {source="MONDO:equivalentTo"} @@ -131440,7 +132725,7 @@ xref: SCTID:7632005 {source="DOID:743", source="MONDO:kboom-pr-1.00/0.85/15.45", xref: UMLS:C0343065 {source="DOID:743"} xref: UMLS:C1852145 {source="GARD:0009480", source="NCBI:mim2gene_medline", source="OMIM:125635"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease -is_a: MONDO:0005492 {source="EFO:1000685/inferred", source="MESH:C536612", source="MONDO:Redundant", source="linkedlifedata"} ! urticaria (disease) +is_a: MONDO:0005492 {source="DOID:743/inferred", source="EFO:1000685/inferred", source="ICD10:L50.3", source="MESH:C536612", source="MONDO:Redundant", source="linkedlifedata"} ! urticaria (disease) is_a: MONDO:0006599 {source="DOID:743", source="EFO:1000685"} ! physical urticaria property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9480/familial-dermographism xsd:anyURI {source="GARD:0009480"} @@ -131464,7 +132749,7 @@ xref: SCTID:721091003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C1852144 {source="NCBI:mim2gene_medline", source="OMIM:125640", source="MONDO:equivalentTo", source="Orphanet:1660"} xref: UMLS:C4303591 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015336 {source="Orphanet:1660"} ! malformation syndrome with odontal and/or periodontal component -is_a: MONDO:0019287 {source="MONDOLEX:0007449", source="Orphanet:1660", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MONDOLEX:0007449", source="Orphanet:1660", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome property_value: confidence "7.125" xsd:double [Term] @@ -131477,6 +132762,7 @@ synonym: "antidiuretic hormone deficiency" EXACT [NCIT:C84933] synonym: "Arginine vasopressin deficiency" EXACT [NCIT:C84933] synonym: "AVP deficiency" EXACT [NCIT:C84933] synonym: "central diabetes insipidus" EXACT [DOID:12388, SCTID:154699008] +synonym: "diabetes insipidus of pituitary gland" EXACT [MONDO:design_pattern] synonym: "diabetes insipidus, cranial type" RELATED [OMIM:125700] synonym: "diabetes insipidus, neurohypophyseal" RELATED [OMIM:125700] synonym: "diabetes insipidus, primary central" RELATED [OMIM:125700] @@ -131502,7 +132788,7 @@ xref: SCTID:267393007 {source="DOID:12388"} xref: SCTID:45369008 {source="MONDO:kboom-pr-0.94/0.76/1.62", source="DOID:12388", source="MONDO:equivalentTo"} xref: SCTID:64410003 {source="DOID:12388"} xref: UMLS:C0687720 {source="OMIM:125700", source="NCBI:mim2gene_medline", source="NCIT:C84933", source="DOID:12388"} -is_a: MONDO:0003381 {source="DOID:12388", source="MONDO:Redundant", source="linkedlifedata"} ! pituitary gland disease +is_a: MONDO:0003381 {source="DOID:12388", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! pituitary gland disease is_a: MONDO:0004782 {source="DC-OMIM:125700", source="DOID:12388", source="MONDO:Entailed", source="NCIT:C84933", source="linkedlifedata"} ! diabetes insipidus is_a: MONDO:0015790 {source="Orphanet:30925"} ! central diabetes insipidus intersection_of: MONDO:0004782 ! diabetes insipidus @@ -131595,7 +132881,9 @@ def: "Any type 1 diabetes mellitus in which the cause of the disease is a mutati synonym: "diabetes mellitus, insulin-dependent, 2" RELATED [OMIM:125852] synonym: "diabetes mellitus, insulin-dependent, type 2" EXACT [MONDORULE:1, OMIM:125852] synonym: "IDDM2" EXACT [DOID:0110741] +synonym: "INS type 1 diabetes mellitus" EXACT [MONDO:design_pattern] synonym: "insulin-dependent diabetes mellitus 2" EXACT [DOID:0110741, OMIM:125852] +synonym: "type 1 diabetes mellitus caused by mutation in INS" EXACT [MONDO:design_pattern] xref: DOID:0110741 {source="MONDO:equivalentTo"} xref: ICD10:E10 {source="DOID:0110741"} xref: MESH:C565100 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -131675,7 +132963,7 @@ is_a: MONDO:0003847 ! inherited genetic disease [Term] id: MONDO:0007458 name: digitotalar dysmorphism; ulnar drift, hereditary -synonym: "DIGITOTALAR DYSMORPHISM" RELATED [OMIM:126050] +synonym: "DIGITOTALAR dysmorphism" RELATED [OMIM:126050] synonym: "ulnar drift, hereditary" RELATED [OMIM:126050] xref: OMIM:126050 {source="MONDO:equivalentTo"} xref: UMLS:C1852085 {source="NCBI:mim2gene_medline", source="OMIM:126050", source="MONDO:subClassOf"} @@ -131927,11 +133215,11 @@ xref: SCTID:60318001 {source="DOID:12557", source="MONDO:kboom-pr-1.00/0.91/29.6 xref: UMLS:C0013261 {source="DOID:12557", source="Orphanet:233", source="NCIT:C84678", source="ORDO:233/e", source="MONDO:equivalentTo"} xref: UMLS:C0994516 {source="NCBI:mim2gene_medline"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm", source="NCIT:C84678"} ! syndromic disease -is_a: MONDO:0003432 {source="DOID:12557"} ! strabismus is_a: MONDO:0015083 {source="Orphanet:233"} ! nuclear oculomotor paralysis is_a: MONDO:0020127 {source="OWLReasoner:2017"} ! genetic peripheral neuropathy is_a: MONDO:0020132 {source="Orphanet:233"} ! cranial nerve and nuclear aplasia is_a: MONDO:0020253 {source="Orphanet:233"} ! syndrome with a symptomatic strabismus +relationship: excluded_subClassOf MONDO:0003432 {source="DOID:12557"} ! strabismus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6288/duane-syndrome xsd:anyURI {source="GARD:0006288"} [Term] @@ -132167,7 +133455,7 @@ xref: Orphanet:41 {source="DOID:0060257", source="MONDO:equivalentTo", source="O xref: SCTID:239085000 {source="MONDO:kboom-pr-1.00/0.81/10.72", source="DOID:0060257", source="MONDO:equivalentTo"} xref: UMLS:C0406775 {source="ORDO:41/e", source="NCBI:mim2gene_medline", source="NCIT:C118435", source="Orphanet:41", source="DOID:0060257", source="MONDO:equivalentTo", source="OMIM:127400"} is_a: MONDO:0000118 {source="DC-OMIM:127400", source="OMIM:127400"} ! reticulate pigment disorder -is_a: MONDO:0019289 {source="Orphanet:41", source="linkedlifedata"} ! hyperpigmentation of the skin +is_a: MONDO:0019289 {source="Orphanet:41", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/225 {source="mim2gene_medgen"} ! ADAR property_value: confidence "36.6984126984127" xsd:double @@ -132288,7 +133576,7 @@ xref: UMLS:C0752347 {source="DOID:12217", source="NCBI:mim2gene_medline", source xref: UMLS:C1851957 {source="OMIM:127750"} xref: UMLS:C1851958 {source="OMIM:127750"} is_a: MONDO:0000510 {source="DOID:12217"} ! synucleinopathy -is_a: MONDO:0001627 {source="MONDO:Redundant", source="NCIT:C84826", source="linkedlifedata"} ! dementia +is_a: MONDO:0001627 {source="DOID:12217", source="MONDO:Redundant", source="NCIT:C84826", source="linkedlifedata", source="linkedlifedata/inferred"} ! dementia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11138 {source="mim2gene_medgen"} ! SNCA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11140 {source="mim2gene_medgen"} ! SNCB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4177 {source="mim2gene_medgen"} ! GBA @@ -132405,8 +133693,8 @@ xref: Orphanet:256 {source="OMIM:128100", source="DOID:0060730", source="GARD:00 xref: UMLS:C0013423 {source="Orphanet:256", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C1851945 {source="Orphanet:256", source="NCBI:mim2gene_medline", source="OMIM:128100"} xref: UMLS:C3888090 {source="Orphanet:256", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000476 {source="MESH:C538005"} ! generalized dystonia -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:128100"} ! dystonic disorder +is_a: MONDO:0000476 {source="DOID:0060730", source="MESH:C538005"} ! generalized dystonia +is_a: MONDO:0003441 {source="DOID:0060730/inferred", source="MESH:C538005/inferred", source="MONDO:Redundant", source="OMIM:128100"} ! dystonic disorder is_a: MONDO:0100016 {source="MONDO:nv"} ! early-onset generalized dystonia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3098 {source="mim2gene_medgen"} ! TOR1A property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2027/early-onset-generalized-dystonia xsd:anyURI {source="GARD:0002027"} @@ -132434,7 +133722,7 @@ xref: Orphanet:98805 {source="DOID:0090041", source="OMIM:128101", source="MONDO xref: SCTID:719276005 {source="MONDO:kboom-pr-1.00/0.80/9.81", source="MONDO:equivalentTo"} xref: UMLS:C1851943 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:128101", source="MONDO:equivalentTo", source="Orphanet:98805"} xref: UMLS:C1860315 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:98805"} -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:128101", source="linkedlifedata"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090041", source="MONDO:Redundant", source="OMIM:128101", source="linkedlifedata", source="linkedlifedata/inferred"} ! dystonic disorder is_a: MONDO:0015990 {source="Orphanet:98805"} ! focal, segmental or multifocal dystonia property_value: confidence "2.0" xsd:double @@ -132449,12 +133737,14 @@ synonym: "DYT-PRRT2" RELATED [GARD:0008721] synonym: "EKD1" RELATED [MONDO:Lexical, OMIM:128200] synonym: "episodic kinesigenic dyskinesia 1" EXACT [MONDO:Lexical, OMIM:128200] synonym: "episodic kinesigenic dyskinesia 1; EKD1" RELATED [OMIM:128200] +synonym: "episodic kinesigenic dyskinesia caused by mutation in PRRT2" EXACT [MONDO:design_pattern] synonym: "episodic kinesigenic dyskinesia type 1" EXACT [DOID:0090053, MONDORULE:1, OMIM:128200] synonym: "familial paroxysmal kinesigenic dyskinesia" EXACT [Orphanet:98809] synonym: "familial PKD" EXACT [Orphanet:98809] synonym: "paroxysmal kinesigenic choreathetosis" EXACT [Orphanet:98809] synonym: "paroxysmal kinesigenic choreoathetosis" RELATED [OMIM:128200] synonym: "paroxysmal kinesigenic dyskinesia" RELATED [OMIM:128200] +synonym: "PRRT2 episodic kinesigenic dyskinesia" EXACT [MONDO:design_pattern] synonym: "PxMD-PRRT2" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] xref: DOID:0090053 {source="MONDO:equivalentTo"} xref: GARD:0008721 {source="Orphanet-shared", source="MONDO:equivalentTo"} @@ -132506,7 +133796,7 @@ xref: Orphanet:98808 {source="OMIM:128230", source="DOID:0090043", source="MONDO xref: SCTID:715768000 {source="MONDO:kboom-pr-1.00/0.81/10.50", source="MONDO:equivalentTo"} xref: UMLS:C1851920 {source="NCBI:mim2gene_medline", source="OMIM:128230", source="MONDO:subClassOf"} xref: UMLS:CN207122 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:128230", source="linkedlifedata"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090043", source="MONDO:Redundant", source="OMIM:128230", source="linkedlifedata", source="linkedlifedata/inferred"} ! dystonic disorder is_a: MONDO:0016812 {source="Orphanet:98808", source="linkedlifedata"} ! dopa-responsive dystonia is_a: MONDO:0017756 {source="Orphanet:98808"} ! disorder of pterin metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4193 {source="mim2gene_medgen"} ! GCH1 @@ -132518,12 +133808,14 @@ id: MONDO:0007496 name: dystonia 12 def: "Rapid-onset dystonia-parkinsonism (RDP) is a very rare movement disorder, characterized by the abrupt onset of parkinsonism and dystonia, often triggered by physical or psychological stress." [Orphanet:71517] subset: ordo_disease {source="Orphanet:71517"} +synonym: "ATP1A3 dystonic disorder" EXACT [MONDO:design_pattern] synonym: "Dystonia 12" EXACT [Orphanet:71517] synonym: "dystonia 12" EXACT [MONDO:Lexical, OMIM:128235] synonym: "dystonia 12; DYT12" RELATED [OMIM:128235] synonym: "Dystonia type 12" EXACT [MONDORULE:2, OMIM:128235] synonym: "dystonia type 12" EXACT [DOID:0090056, MONDORULE:2] synonym: "Dystonia-Parkinsonism, rapid-onset" RELATED [OMIM:128235] +synonym: "dystonic disorder caused by mutation in ATP1A3" EXACT [MONDO:design_pattern] synonym: "DYT-ATP1A3" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/] synonym: "DYT12" EXACT [MONDO:Lexical, OMIM:128235, Orphanet:71517] synonym: "rapid-onset dystonia-parkinsonism" RELATED [Orphanet:71517] @@ -132536,7 +133828,7 @@ xref: OMIM:128235 {source="DOID:0090056", source="ORDO:71517/e", source="Orphane xref: Orphanet:71517 {source="DOID:0090056", source="OMIM:128235", source="MONDO:equivalentTo"} xref: SCTID:702323008 {source="MONDO:kboom-pr-0.73/0.44/0.07", source="MONDO:equivalentTo"} xref: UMLS:C1868681 {source="NCBI:mim2gene_medline", source="OMIM:128235", source="Orphanet:71517", source="MONDO:equivalentTo"} -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:128235", source="linkedlifedata"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090056", source="MESH:C538001", source="MONDO:Redundant", source="OMIM:128235", source="linkedlifedata"} ! dystonic disorder is_a: MONDO:0017660 {source="Orphanet:71517"} ! rare genetic parkinsonian disorder is_a: MONDO:0018329 {source="Orphanet:71517"} ! persistent combined dystonia intersection_of: MONDO:0003441 ! dystonic disorder @@ -132627,7 +133919,7 @@ xref: OMIM:128980 {source="ORDO:2405/e", source="Orphanet:2405", source="MONDO:e xref: Orphanet:2405 {source="OMIM:128980", source="MONDO:equivalentTo"} xref: SCTID:722476007 {source="MONDO:kboom-pr-0.76/0.38/0.68", source="MONDO:equivalentTo"} xref: UMLS:C1851896 {source="NCBI:mim2gene_medline", source="OMIM:128980"} -is_a: MONDO:0003847 {source="Orphanet:2405/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="Orphanet:2405/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0019589 {source="Orphanet:2405"} ! syndromic genetic deafness property_value: confidence "8.333333333333334" xsd:double @@ -132688,7 +133980,7 @@ comment: Rapp-Hodgkin syndrome has signs and symptoms that overlap considerably subset: gard_rare {source="GARD:0005690"} subset: speculative synonym: "anhidrotic ectodermal dysplasia with cleft lip/palate" EXACT [DOID:0060330] -synonym: "cleft 51P with or without cleft palate, nonsyndromic, 8" RELATED [OMIM:129400] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 8" RELATED [OMIM:129400] synonym: "ectodermal dysplasia, anhidrotic, with cleft lip-palate" RELATED [MESH:C535289] synonym: "ectodermal dysplasia, anhidrotic, with cleft Lip/palate" RELATED [OMIM:129400] synonym: "OFC8, included" RELATED [MESH:C535289] @@ -132712,7 +134004,7 @@ is_a: MONDO:0000426 {source="DOID:0060330", source="linkedlifedata"} ! autosomal is_a: MONDO:0004747 {source="MESH:C535289"} ! cleft lip (disease) is_a: MONDO:0007124 {source="MONDO:cjm"} ! ankyloblepharon-ectodermal defects-cleft lip/palate syndrome is_a: MONDO:0016064 {source="MESH:C535289"} ! cleft palate -is_a: MONDO:0019287 {source="MESH:C535289"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MESH:C535289", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15979 {source="mim2gene_medgen"} ! TP63 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5690/rapp-hodgkin-syndrome xsd:anyURI {source="GARD:0005690"} @@ -132772,7 +134064,7 @@ xref: Orphanet:189 {source="OMIM:129500", source="MONDO:equivalentTo"} xref: SCTID:54209007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14693", source="MONDO:equivalentTo"} xref: UMLS:C0162361 {source="ORDO:189/e", source="Orphanet:189", source="NCBI:mim2gene_medline", source="DOID:14693", source="OMIM:129500"} xref: UMLS:C2931169 {source="GARD:0004253"} -is_a: MONDO:0019287 {source="MONDOLEX:0007510", source="OMIM:129500", source="Orphanet:189", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MONDOLEX:0007510", source="OMIM:129500", source="Orphanet:189", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0020094 {source="Orphanet:189"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature relationship: disease_has_basis_in_disruption_of GO:0005243 {source="https://ghr.nlm.nih.gov/condition/clouston-syndrome#genes"} ! gap junction channel activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4288 {source="mim2gene_medgen"} ! GJB6 @@ -132825,13 +134117,15 @@ synonym: "autosomal dominant isolated ectopia lentis 1" RELATED [DOID:0111150] synonym: "ECTOL1" EXACT [DOID:0111150, MONDO:Lexical, OMIM:129600] synonym: "ectopia lentis 1, isolated, autosomal dominant" EXACT [MONDO:Lexical, OMIM:129600] synonym: "ectopia lentis 1, isolated, autosomal dominant; ECTOL1" RELATED [OMIM:129600] +synonym: "FBN1 isolated ectopia lentis" EXACT [MONDO:design_pattern] +synonym: "isolated ectopia lentis caused by mutation in FBN1" EXACT [MONDO:design_pattern] xref: DOID:0111150 {source="MONDO:equivalentTo"} xref: OMIM:129600 {source="DOID:0111150", source="MONDO:equivalentTo"} xref: Orphanet:1885 {source="MONDO:subClassOf", source="OMIM:129600"} xref: UMLS:C1851286 {source="NCBI:mim2gene_medline", source="DOID:0111150"} xref: UMLS:C3541518 {source="MONDO:equivalentTo", source="OMIM:129600"} xref: url:https\://www.ncbi.nlm.nih.gov/pubmed/15054843 {source="DOID:0111150"} -is_a: MONDO:0015998 {source="DC-OMIM:129600", source="OMIM:129600"} ! isolated ectopia lentis +is_a: MONDO:0015998 {source="DC-OMIM:129600", source="DOID:0111150", source="OMIM:129600"} ! isolated ectopia lentis intersection_of: MONDO:0015998 ! isolated ectopia lentis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3603 ! FBN1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3603 {source="mim2gene_medgen"} ! FBN1 @@ -132975,12 +134269,12 @@ xref: SCTID:715318006 {source="MONDO:equivalentTo"} xref: UMLS:C0220679 {source="Orphanet:287", source="MONDO:directSiblingOf"} xref: UMLS:C0268335 {source="NCBI:mim2gene_medline", source="OMIM:130000", source="MONDO:superClassOf"} xref: UMLS:C4225429 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0000426 {source="SCTID:715318006", source="linkedlifedata"} ! autosomal dominant disease +is_a: MONDO:0000426 {source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0002254 {source="MONDO:0007522/inferred", source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0007522/inferred"} ! syndromic disease is_a: MONDO:0015216 {source="Orphanet:287"} ! syndromic diaphragmatic or abdominal wall malformation is_a: MONDO:0015669 {source="Orphanet:287"} ! rare disease with dentinogenesis imperfecta is_a: MONDO:0015880 {source="Orphanet:287"} ! syndromic diaphragmatic or thoracic malformation -is_a: MONDO:0020066 {source="DC-OMIM:130000", source="MONDOLEX:0007522", source="OMIM:130000", source="Orphanet:287", source="SCTID:715318006", source="linkedlifedata"} ! Ehlers-Danlos syndrome +is_a: MONDO:0020066 {source="DC-OMIM:130000", source="MONDOLEX:0007522", source="OMIM:130000", source="Orphanet:287", source="linkedlifedata"} ! Ehlers-Danlos syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2197 {source="mim2gene_medgen"} ! COL1A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2209 {source="mim2gene_medgen"} ! COL5A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2210 {source="mim2gene_medgen"} ! COL5A2 @@ -133237,6 +134531,8 @@ synonym: "elliptocytosis 2" EXACT [MONDO:Lexical, OMIM:130600] synonym: "elliptocytosis 2; EL2" RELATED [OMIM:130600] synonym: "elliptocytosis type 2" EXACT [MONDORULE:1, OMIM:130600] synonym: "elliptocytosis, Rhesus-unlinked type" RELATED [OMIM:130600] +synonym: "hereditary elliptocytosis caused by mutation in SPTA1" EXACT [MONDO:design_pattern] +synonym: "SPTA1 hereditary elliptocytosis" EXACT [MONDO:design_pattern] xref: MESH:C565058 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:130600 {source="MONDO:equivalentTo"} xref: Orphanet:288 {source="MONDO:subClassOf", source="OMIM:130600"} @@ -133302,7 +134598,7 @@ xref: MESH:C565057 {source="MONDO:equivalentTo"} xref: OMIM:130700 {source="MONDO:equivalentTo"} xref: UMLS:C1851718 {source="NCBI:mim2gene_medline", source="OMIM:130700", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0004849 ! pulmonary emphysema +is_a: MONDO:0004849 {source="MESH:C565057"} ! pulmonary emphysema property_value: confidence "10.0" xsd:double [Term] @@ -133359,6 +134655,7 @@ subset: ordo_clinical_subtype {source="Orphanet:100032"} synonym: "ADHCAI" EXACT [DOID:0110055] synonym: "AI3" EXACT [DOID:0110055, MONDO:Lexical, OMIM:130900] synonym: "AI3A" RELATED [OMIM:130900] +synonym: "amelogenesis imperfecta caused by mutation in FAM83H" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomineralization type" EXACT [DOID:0110055] synonym: "amelogenesis imperfecta type 3" EXACT [Orphanet:100032] synonym: "amelogenesis imperfecta type 3A" RELATED [DOID:0110055] @@ -133371,6 +134668,7 @@ synonym: "amelogenesis imperfecta, type III" RELATED [MONDO:Lexical, OMIM:130900 synonym: "amelogenesis imperfecta, type III; AI3" RELATED [OMIM:130900] synonym: "amelogenesis imperfecta, type IIIA; AI3A" RELATED [OMIM:130900] synonym: "autosomal dominant amelogenesis imperfecta hypocalcification type" EXACT [DOID:0110055] +synonym: "FAM83H amelogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110055 {source="MONDO:equivalentTo"} xref: ICD10:K00.5 {source="DOID:0110055", source="ORDO:100032/attributed", source="Orphanet:100032", source="ORDO:100032/ntbt"} xref: MESH:C562880 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -133379,7 +134677,7 @@ xref: OMIM:616221 {source="Orphanet:100032", source="ORDO:100032/btnt", source=" xref: Orphanet:100032 {source="OMIM:130900", source="MONDO:equivalentTo"} xref: SCTID:109471001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.73"} xref: UMLS:C0399376 {source="NCBI:mim2gene_medline", source="OMIM:130900", source="Orphanet:100032"} -is_a: MONDO:0003847 {source="Orphanet:100032/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="Orphanet:100032/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0019507 {source="DC-OMIM:130900", source="DOID:0110055", source="MESH:C562880", source="MONDO:Entailed", source="OMIM:130900", source="Orphanet:100032", source="linkedlifedata"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24797 ! FAM83H @@ -133416,12 +134714,14 @@ synonym: "men type 1" EXACT [NCIT:C3225] synonym: "men type I" EXACT [DOID:10017, NCIT:C3225] synonym: "MEN1" EXACT [Orphanet:652] synonym: "MEN1" RELATED [MONDO:Lexical, OMIM:131100] +synonym: "MEN1 multiple endocrine neoplasia" EXACT [MONDO:design_pattern] synonym: "Men1 somatic mutations" RELATED [OMIM:131100] synonym: "MEN1 syndrome" EXACT [NCIT:C3225] synonym: "multiple endocrine adenomatosis" EXACT [NCIT:C3225] synonym: "multiple endocrine adenomatosis type 1" EXACT [NCIT:C3225] synonym: "multiple endocrine adenomatosis type I" EXACT [NCIT:C3225] synonym: "multiple endocrine adenomatosis, type I" EXACT [NCIT:C3225] +synonym: "multiple endocrine neoplasia caused by mutation in MEN1" EXACT [MONDO:design_pattern] synonym: "multiple endocrine neoplasia type 1" EXACT [DOID:10017, NCIT:C3225] synonym: "multiple endocrine neoplasia type 1 syndrome" EXACT [NCIT:C3225] synonym: "multiple endocrine neoplasia type I" EXACT [NCIT:C3225] @@ -133472,7 +134772,7 @@ is_a: MONDO:0003847 ! inherited genetic disease [Term] id: MONDO:0007542 name: Camurati-Engelmann disease -def: "Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability. Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." [https://github.com/monarch-initiative/monarch-disease-ontology/issues/399, Orphanet:1328] +def: "Camurati-Englemann disease (CED) is a rare, clinically variable bone dysplasia syndrome characterized by hyperostosis of the long bones, skull, spine and pelvis, associated with severe pain in the extremities, a wide-based waddling gait, joint contractures, muscle weakness and easy fatigability." [https://github.com/monarch-initiative/monarch-disease-ontology/issues/399, Orphanet:1328] subset: ordo_malformation_syndrome {source="Orphanet:1328"} synonym: "CAEND" RELATED [MONDO:Lexical, OMIM:131300] synonym: "Camurati-Engelmann disease" EXACT [MONDO:Lexical, OMIM:131300] @@ -133502,10 +134802,10 @@ xref: SCTID:34643004 {source="DOID:4997"} xref: UMLS:C0011989 {source="DOID:4997", source="NCBI:mim2gene_medline", source="NCIT:C84610", source="Orphanet:1328", source="ORDO:1328/e", source="MONDO:equivalentTo", source="OMIM:131300"} xref: UMLS:C2931842 {source="OMIM:131300"} is_a: MONDO:0002254 {source="MONDOLEX:0007542", source="NCIT:C84610"} ! syndromic disease -is_a: MONDO:0002933 {source="DOID:4997"} ! osteosclerosis is_a: MONDO:0019703 {source="Orphanet:1328"} ! primary bone dysplasia with increased bone density relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11766 {source="mim2gene_medgen"} ! TGFB1 relationship: disease_has_feature HP:0011001 ! Increased bone mineral density +relationship: excluded_subClassOf MONDO:0002933 {source="DOID:4997"} ! osteosclerosis property_value: confidence "8.375" xsd:double [Term] @@ -133628,7 +134928,7 @@ xref: Orphanet:231568 {source="OMIM:131750", source="MONDO:equivalentTo"} xref: SCTID:75875004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.61"} xref: UMLS:C0432322 {source="Orphanet:231568", source="NCBI:mim2gene_medline", source="OMIM:131750"} xref: UMLS:C2675683 {source="OMIM:131750"} -is_a: MONDO:0006543 {source="DC-OMIM:131750", source="DOID:0080224", source="MONDOLEX:0007549", source="linkedlifedata"} ! epidermolysis bullosa dystrophica +is_a: MONDO:0006543 {source="DC-OMIM:131750", source="DOID:0080224", source="MONDOLEX:0007549", source="linkedlifedata", source="linkedlifedata/inferred"} ! epidermolysis bullosa dystrophica is_a: MONDO:0017608 {source="Orphanet:231568"} ! dystrophic epidermolysis bullosa relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2214 {source="mim2gene_medgen"} ! COL7A1 property_value: confidence "2.941176470588235" xsd:double @@ -133713,7 +135013,7 @@ xref: OMIM:131850 {source="Orphanet:79410", source="MONDO:equivalentTo", source= xref: Orphanet:79410 {source="MONDO:equivalentTo", source="OMIM:131850"} xref: SCTID:67653003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/9.61"} xref: UMLS:C0432321 {source="NCBI:mim2gene_medline", source="Orphanet:79410", source="OMIM:131850"} -is_a: MONDO:0006543 {source="DC-OMIM:131850", source="MESH:C535494", source="MONDOLEX:0007552", source="linkedlifedata"} ! epidermolysis bullosa dystrophica +is_a: MONDO:0006543 {source="DC-OMIM:131850", source="MESH:C535494", source="MONDOLEX:0007552", source="linkedlifedata", source="linkedlifedata/inferred"} ! epidermolysis bullosa dystrophica is_a: MONDO:0017608 {source="Orphanet:79410"} ! dystrophic epidermolysis bullosa relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2214 {source="mim2gene_medgen"} ! COL7A1 property_value: confidence "3.666666666666667" xsd:double @@ -134034,8 +135334,8 @@ xref: Orphanet:65748 {source="OMIM:132800", source="MONDO:equivalentTo"} xref: SCTID:254659009 {source="MONDO:kboom-pr-1.00/0.91/28.68", source="DOID:5585", source="MONDO:equivalentTo"} xref: UMLS:C0345982 {source="DOID:5585", source="MONDO:equivalentTo", source="NCIT:C4461"} xref: UMLS:C0546476 {source="NCBI:mim2gene_medline", source="OMIM:132800", source="Orphanet:65748"} -is_a: MONDO:0002527 {source="DOID:5585", source="MONDO:Redundant", source="NCIT-relation"} ! keratoacanthoma -is_a: MONDO:0015356 {source="NCIT:C4461", source="linkedlifedata"} ! hereditary neoplastic syndrome +is_a: MONDO:0002527 {source="DOID:5585", source="MESH:C536150", source="MONDO:Redundant", source="NCIT-relation"} ! keratoacanthoma +is_a: MONDO:0015356 {source="NCIT:C4461", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0015950 {source="Orphanet:65748"} ! inherited skin tumor is_a: MONDO:0019300 {source="Orphanet:65748"} ! rare skin tumor or hamartoma is_a: MONDO:0020173 {source="Orphanet:65748"} ! benign tumor of palpebral epidermis @@ -134068,6 +135368,8 @@ synonym: "aortic aneurysm, familial thoracic 4; AAT4" RELATED [OMIM:132900] synonym: "aortic aneurysm, familial thoracic type 4" EXACT [MONDORULE:1, OMIM:132900] synonym: "aortic aneurysm/aortic dissection and patent ductus arteriosus" RELATED [OMIM:132900] synonym: "Faa4" RELATED [OMIM:132900] +synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MYH11" EXACT [MONDO:design_pattern] +synonym: "MYH11 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern] xref: GARD:0009876 {source="MONDO:equivalentTo"} xref: MESH:C537784 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:132900 {source="MONDO:equivalentTo"} @@ -134147,6 +135449,7 @@ synonym: "autosomal dominant benign erythrocytosis" RELATED [DOID:0060652] synonym: "congenital erythrocytosis due to erythropoietin receptor mutation" EXACT [Orphanet:90042] synonym: "congenital polycythemia due to erythropoietin receptor mutation" EXACT [Orphanet:90042] synonym: "ECYT1" RELATED [MONDO:Lexical, OMIM:133100] +synonym: "EPOR familial polycythemia" EXACT [MONDO:design_pattern] synonym: "erythrocytosis autosomal dominant benign" RELATED [GARD:0009843] synonym: "erythrocytosis familial, 1" RELATED [GARD:0009843] synonym: "erythrocytosis, autosomal dominant benign" RELATED [OMIM:133100] @@ -134157,6 +135460,7 @@ synonym: "familial erythrocytosis" EXACT [Orphanet:90042] synonym: "familial erythrocytosis 1" RELATED [DOID:0060652] synonym: "familial erythrocytosis type 1" EXACT [DOID:0060652, MONDORULE:1] synonym: "familial erythrocytosis, 1" RELATED [GARD:0009843] +synonym: "familial polycythemia caused by mutation in EPOR" EXACT [MONDO:design_pattern] synonym: "PFCP" EXACT [Orphanet:90042] synonym: "polycythemia, primary familial and congenital" RELATED [OMIM:133100] synonym: "primary congenital erythrocytosis" EXACT [Orphanet:90042] @@ -134319,8 +135623,8 @@ xref: UMLS:C3149253 {source="OMIM:133239"} xref: UMLS:C3149254 {source="OMIM:133239"} xref: UMLS:C3149255 {source="OMIM:133239"} is_a: MONDO:0002516 {source="DOID:5041", source="MONDO:Entailed", source="NCIT:C7478"} ! digestive system cancer -is_a: MONDO:0003749 {source="DOID:5041", source="MONDO:Redundant"} ! esophageal disease -is_a: MONDO:0021355 {source="MONDO:Entailed", source="NCIT:C7478", source="OWLReasoner:Elk-2018-01-09", source="linkedlife"} ! neoplasm of esophagus +is_a: MONDO:0003749 {source="DOID:5041", source="MONDO:Redundant", source="NCIT:C7478/inferred", source="linkedlifedata/inferred"} ! esophageal disease +is_a: MONDO:0021355 {source="MONDO:Entailed", source="NCIT:C7478", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of esophagus intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001043 ! esophagus relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10069 {source="mim2gene_medgen"} ! RNF6 @@ -134421,8 +135725,10 @@ name: exostoses, multiple, type 1 def: "Any exostoses, multiple in which the cause of the disease is a mutation in the EXT1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0002204"} synonym: "diaphyseal Aclasis" RELATED [OMIM:133700] +synonym: "exostoses, multiple caused by mutation in EXT1" EXACT [MONDO:design_pattern] synonym: "exostoses, multiple, type I" RELATED [OMIM:133700] synonym: "Ext" RELATED [OMIM:133700] +synonym: "EXT1 exostoses, multiple" EXACT [MONDO:design_pattern] synonym: "multiple cartilaginous exostoses" RELATED [OMIM:133700] synonym: "multiple osteochondromas" RELATED [OMIM:133700] synonym: "osteochondromatosis" RELATED [OMIM:133700] @@ -134442,8 +135748,10 @@ id: MONDO:0007586 name: exostoses, multiple, type 2 def: "This gene is involved in the heparin/heparin sulfate biosynthesis, cell organization/biogenesis and development of the cytoskeleton in chondrocytes." [NCIT:C18252] subset: gard_rare {source="GARD:0002205"} +synonym: "exostoses, multiple caused by mutation in EXT2" EXACT [MONDO:design_pattern] synonym: "exostoses, multiple, type II" RELATED [OMIM:133701] synonym: "Ext2" RELATED [OMIM:133701] +synonym: "EXT2 exostoses, multiple" EXACT [MONDO:design_pattern] xref: GARD:0002205 {source="MONDO:equivalentTo"} xref: NCIT:C18252 {source="MONDO:equivalentTo"} xref: OMIM:133701 {source="MONDO:equivalentTo"} @@ -134794,7 +136102,7 @@ xref: SCTID:205527009 {source="DOID:13374"} xref: SCTID:240121004 {source="DOID:13374"} xref: SCTID:82725007 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:13374", source="MONDO:equivalentTo"} xref: UMLS:C0016037 {source="NCBI:mim2gene_medline", source="OMIM:135100", source="DOID:13374", source="NCIT:C3040", source="Orphanet:337", source="MONDO:equivalentTo", source="ORDO:337/e"} -is_a: MONDO:0003847 {source="NCIT:C3040", source="Orphanet:337/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="NCIT:C3040", source="Orphanet:337/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0015949 {source="Orphanet:337"} ! rare genetic subcutaneous tissue disorder is_a: MONDO:0018231 {source="Orphanet:337"} ! primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments is_a: MONDO:0019296 {source="Orphanet:337"} ! subcutaneous tissue disease @@ -134881,9 +136189,11 @@ synonym: "fibromatosis, gingival, type 1" EXACT [MONDORULE:1, OMIM:135300] synonym: "GGF1" RELATED [OMIM:135300] synonym: "GINGF" RELATED [OMIM:135300] synonym: "GINGF1" RELATED [MONDO:Lexical, OMIM:135300] +synonym: "gingival fibromatosis caused by mutation in SOS1" EXACT [MONDO:design_pattern] synonym: "gingival fibromatosis, 1" RELATED [GARD:0006509] synonym: "hereditary gingival fibromatosis, 1" RELATED [GARD:0006509] synonym: "HGF1" RELATED [GARD:0006509] +synonym: "SOS1 gingival fibromatosis" EXACT [MONDO:design_pattern] xref: GARD:0006509 {source="MONDO:equivalentTo"} xref: OMIM:135300 {source="MONDO:equivalentTo"} xref: Orphanet:2024 {source="OMIM:135300", source="MONDO:subClassOf"} @@ -135008,7 +136318,7 @@ xref: UMLS:C1302995 {source="MONDO:equivalentTo", source="Orphanet:45358"} xref: UMLS:C1851102 {source="NCBI:mim2gene_medline", source="OMIM:135700"} xref: UMLS:C2751105 {source="OMIM:135700"} xref: UMLS:CN043677 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0001584 {source="DOID:0080143", source="linkedlifedata"} ! ocular motility disease +is_a: MONDO:0001584 {source="DOID:0080143", source="linkedlifedata", source="linkedlifedata/inferred"} ! ocular motility disease is_a: MONDO:0016106 {source="Orphanet:45358"} ! progressive muscular dystrophy is_a: MONDO:0020169 {source="Orphanet:45358"} ! rare disorder with ptosis is_a: MONDO:0020253 {source="Orphanet:45358"} ! syndrome with a symptomatic strabismus @@ -135272,18 +136582,20 @@ def: "Any foveal hypoplasia in which the cause of the disease is a mutation in t synonym: "foveal hypoplasia 1" EXACT [MONDO:Lexical, OMIM:136520] synonym: "foveal hypoplasia 1 with or without anterior segment anomalies and/or cataract" RELATED [OMIM:136520] synonym: "foveal hypoplasia 1; FVH1" RELATED [OMIM:136520] +synonym: "foveal hypoplasia caused by mutation in PAX6" EXACT [MONDO:design_pattern] synonym: "foveal hypoplasia type 1" EXACT [MONDORULE:1, OMIM:136520] synonym: "foveal hypoplasia, congenital nystagmus, corneal pannus, and presenile cataracts" RELATED [GARD:0000406] synonym: "foveal hypoplasia, presenile cataract" RELATED [GARD:0000406] synonym: "FVH1" RELATED [MONDO:Lexical, OMIM:136520] synonym: "O Donnell Pappas syndrome" RELATED [GARD:0000406] +synonym: "PAX6 foveal hypoplasia" EXACT [MONDO:design_pattern] xref: GARD:0000406 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:136520 {source="MONDO:equivalentTo"} xref: Orphanet:2253 {source="OMIM:136520", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: UMLS:C1850992 {source="NCBI:mim2gene_medline"} xref: UMLS:C3805604 {source="OMIM:136520", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0044203 ! foveal hypoplasia +is_a: MONDO:0044203 {source="OMIM:136520"} ! foveal hypoplasia intersection_of: MONDO:0044203 ! foveal hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8620 ! PAX6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8620 {source="mim2gene_medgen"} ! PAX6 @@ -135441,11 +136753,13 @@ property_value: confidence "9.0" xsd:double id: MONDO:0007637 name: corneal dystrophy, Fuchs endothelial, 1 def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "COL8A2 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern] synonym: "corneal dystrophy, Fuchs endothelial, 1" EXACT [MONDO:Lexical, OMIM:136800] synonym: "corneal dystrophy, Fuchs endothelial, 1; FECD1" RELATED [OMIM:136800] synonym: "corneal dystrophy, Fuchs endothelial, early-onset" RELATED [OMIM:136800] synonym: "corneal dystrophy, Fuchs endothelial, type 1" EXACT [MONDORULE:1, OMIM:136800] synonym: "FECD1" RELATED [MONDO:Lexical, OMIM:136800] +synonym: "Fuchs' endothelial dystrophy caused by mutation in COL8A2" EXACT [MONDO:design_pattern] xref: MESH:C535478 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:136800 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="MONDO:subClassOf", source="OMIM:136800"} @@ -135517,7 +136831,8 @@ xref: Orphanet:59181 {source="OMIM:136900", source="MONDO:equivalentTo"} xref: SCTID:193410003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0339515 {source="ORDO:59181/e", source="Orphanet:59181"} xref: UMLS:C1850938 {source="NCBI:mim2gene_medline", source="OMIM:136900"} -is_a: MONDO:0004589 {source="DOID:0090114", source="linkedlifedata"} ! hereditary retinal dystrophy +is_a: MONDO:0004589 {source="DOID:0090114", source="linkedlifedata/inferred"} ! obsolete hereditary retinal dystrophy +is_a: MONDO:0019118 {source="DOID:0090114", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy is_a: MONDO:0020244 {source="Orphanet:59181"} ! unclassified primitive or secondary maculopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11822 {source="mim2gene_medgen"} ! TIMP3 property_value: confidence "1.6470588235294117" xsd:double @@ -135637,7 +136952,7 @@ synonym: "familial diffuse cancer of stomach" EXACT [Orphanet:26106] synonym: "familial diffuse gastric cancer" EXACT [Orphanet:26106] synonym: "FDGC" EXACT [Orphanet:26106] synonym: "gastric cancer, familial diffuse" RELATED [OMIM:137215] -synonym: "gastric cancer, familial diffuse, and cleft 51P with or without cleft palate" RELATED [OMIM:137215] +synonym: "gastric cancer, familial diffuse, and cleft lip with or without cleft palate" RELATED [OMIM:137215] synonym: "gastric cancer, hereditary diffuse" RELATED [MONDO:Lexical, OMIM:137215] synonym: "gastric cancer, hereditary diffuse; HDGC" RELATED [OMIM:137215] synonym: "HDGC" EXACT [MONDO:Lexical, OMIM:137215, Orphanet:26106] @@ -135691,6 +137006,7 @@ synonym: "extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue synonym: "familial primary gastric lymphoma" RELATED [GARD:0006485] synonym: "gastric lymphoma, primary" RELATED [OMIM:137245] synonym: "Immunocytoma" EXACT [NCIT:C3898] +synonym: "lymphoma of mucosa-associated lymphoid tissue" EXACT [MONDO:design_pattern] synonym: "lymphoma, mucosa-associated lymphoid type" RELATED [OMIM:137245] synonym: "MALT lymphoma" EXACT [NCIT:C3898, OMIM:137245] synonym: "MALT-lymphoma" EXACT [NCIT:C3898] @@ -135714,7 +137030,7 @@ xref: UMLS:C0242647 {source="Orphanet:52417", source="NCIT:C3898", source="MEDGE xref: UMLS:C1850900 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:137245", source="MONDO:equivalentTo"} xref: Wikipedia:MALT_lymphoma {source="EFO:0000191"} is_a: MONDO:0004949 {source="EFO:0000191", source="NCIT:C3898/inferred", source="ONCOTREE:EMALT/inferred"} ! neoplasm of mature B-cells -is_a: MONDO:0017604 {source="NCIT:C3898", source="ONCOTREE:EMALT", source="Orphanet:52417", source="linkedlifedata"} ! marginal zone lymphoma +is_a: MONDO:0017604 {source="NCIT:C3898", source="ONCOTREE:EMALT", source="Orphanet:52417", source="linkedlifedata", source="linkedlifedata/inferred"} ! marginal zone lymphoma intersection_of: MONDO:0005062 ! lymphoma intersection_of: disease_has_location UBERON:0001961 ! mucosa-associated lymphoid tissue relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/989 {source="mim2gene_medgen"} ! BCL10 @@ -135776,7 +137092,7 @@ xref: SCTID:60002000 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:8757" xref: UMLS:C0017155 {source="Orphanet:2494", source="NCBI:mim2gene_medline", source="DOID:8757", source="NCIT:C67277", source="ORDO:2494/e", source="MONDO:equivalentTo"} xref: UMLS:C2936660 {source="Orphanet:2494", source="OMIM:137280"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0004966 {source="DOID:8757", source="EFO:1000946", source="MESH:D005758", source="MONDOLEX:0007652", source="NCIT:C67277", source="linkedlifedata"} ! gastritis (disease) +is_a: MONDO:0004966 {source="DOID:8757", source="EFO:1000946", source="MESH:D005758", source="MONDOLEX:0007652", source="NCIT:C67277", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastritis (disease) is_a: MONDO:0015111 {source="Orphanet:2494"} ! rare gastroesophageal disease property_value: confidence "3.2857142857142856" xsd:double @@ -135971,9 +137287,9 @@ xref: SCTID:5158005 {source="DOID:11119", source="MONDO:equivalentTo"} xref: UMLS:C0040517 {source="DOID:11119", source="NCBI:mim2gene_medline", source="OMIM:137580", source="NCIT:C35078"} xref: UMLS:C1392622 {source="OMIM:137580"} is_a: MONDO:0002254 {source="MONDOLEX:0007661", source="NCIT:C35078"} ! syndromic disease -is_a: MONDO:0002420 {source="DOID:11119", source="MESH:D005879"} ! tic disorder +is_a: MONDO:0002420 {source="DOID:11119", source="MESH:D005879", source="linkedlifedata"} ! tic disorder is_a: MONDO:0003847 {source="MESH:D005879/inferred"} ! inherited genetic disease -is_a: MONDO:0005395 {source="MESH:D005879/inferred", source="NCIT:C35078"} ! movement disorder +is_a: MONDO:0005395 {source="MESH:D005879/inferred", source="NCIT:C35078", source="linkedlifedata/inferred"} ! movement disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20297 {source="mim2gene_medgen"} ! SLITRK1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4855 {source="mim2gene_medgen"} ! HDC relationship: disease_has_feature HP:0100034 ! Motor tics @@ -135984,12 +137300,18 @@ name: anterior segment dysgenesis 4 def: "Any iridogoniodysgenesis in which the cause of the disease is a mutation in the PITX2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "anterior segment dysgenesis 4; ASGD4" RELATED [OMIM:137600] synonym: "ASGD4" RELATED [OMIM:137600] +synonym: "IGDS" EXACT [DOID:0050786] +synonym: "IRID 1" EXACT [DOID:0050786] synonym: "irid 2" EXACT [DOID:0050786] synonym: "IRID2" RELATED [MONDO:Lexical, OMIM:137600] +synonym: "iridogoniodysgenesis caused by mutation in PITX2" EXACT [MONDO:design_pattern] synonym: "iridogoniodysgenesis syndrome" RELATED [OMIM:137600] +synonym: "iridogoniodysgenesis type 1" EXACT [DOID:0050786] +synonym: "iridogoniodysgenesis type 2" EXACT [DOID:0050786] synonym: "iridogoniodysgenesis, type 2" RELATED [MONDO:Lexical, OMIM:137600] synonym: "iridogoniodysgenesis, type 2; IRID2" RELATED [OMIM:137600] synonym: "iris hypoplasia with early-onset glaucoma, autosomal dominant" RELATED [OMIM:137600] +synonym: "PITX2 iridogoniodysgenesis" EXACT [MONDO:design_pattern] xref: DOID:0050786 {source="MONDO:equivalentTo", source="https://github.com/monarch-initiative/mondo/issues/203"} xref: GARD:0003026 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:137600 {source="MONDO:equivalentTo"} @@ -136024,6 +137346,8 @@ synonym: "glaucoma hereditary, juvenile" RELATED [GARD:0009485] synonym: "glaucoma, primary open angle, juvenile-onset, 1" RELATED [OMIM:137750] synonym: "GLC1A" RELATED [MONDO:Lexical, OMIM:137750] synonym: "JOAG1" RELATED [GARD:0009485] +synonym: "juvenile glaucoma caused by mutation in MYOC" EXACT [MONDO:design_pattern] +synonym: "MYOC juvenile glaucoma" EXACT [MONDO:design_pattern] synonym: "primary open angle glaucoma juvenile onset 1" RELATED [GARD:0009485] xref: GARD:0009485 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: MESH:C564234 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -136778,7 +138102,7 @@ xref: UMLS:C0700384 {source="OMIM:140300"} xref: UMLS:C0920350 {source="DOID:7188"} xref: Wikipedia:Hashimoto's_thyroiditis {source="EFO:0003779"} is_a: MONDO:0005623 {source="EFO:0003779", source="MESH:D050031", source="MONDOLEX:0007699"} ! autoimmune thyroid disease -is_a: MONDO:0007179 {source="EFO:0003779/inferred", source="MESH:D050031/inferred", source="MONDO:Redundant", source="NCIT:C27191"} ! autoimmune disease +is_a: MONDO:0007179 {source="DOID:7188/inferred", source="EFO:0003779/inferred", source="MESH:D050031/inferred", source="MONDO:Redundant", source="NCIT:C27191"} ! autoimmune disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2505 {source="mim2gene_medgen"} ! CTLA4 property_value: confidence "0.6296296296296298" xsd:double @@ -136799,7 +138123,7 @@ xref: OMIM:140350 {source="Orphanet:2118", source="MONDO:equivalentTo", source=" xref: Orphanet:2118 {source="OMIM:140350", source="MONDO:equivalentTo"} xref: SCTID:414380008 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C2931042 {source="NCBI:mim2gene_medline", source="OMIM:140350", source="Orphanet:2118", source="MONDO:equivalentTo", source="ORDO:2118/e"} -is_a: MONDO:0017307 {source="Orphanet:2118", source="linkedlifedata"} ! disorder of tyrosine metabolism +is_a: MONDO:0017307 {source="Orphanet:2118", source="linkedlifedata", source="linkedlifedata/inferred"} ! disorder of tyrosine metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5147 {source="mim2gene_medgen"} ! HPD property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5668/hawkinsinuria xsd:anyURI {source="GARD:0005668"} @@ -136864,8 +138188,10 @@ def: "Osteophytes that most commonly develop on the distal interphalangeal joint synonym: "Dipoa" RELATED [OMIM:140600] synonym: "hand osteoarthritis" RELATED [OMIM:140600] synonym: "Heberden nodes" RELATED [OMIM:140600] +synonym: "MATN3 osteoarthritis" EXACT [MONDO:design_pattern] synonym: "Oadip" RELATED [OMIM:140600] synonym: "OS2" RELATED [MONDO:Lexical, OMIM:140600] +synonym: "osteoarthritis caused by mutation in MATN3" EXACT [MONDO:design_pattern] synonym: "osteoarthritis of distal interphalangeal joints" RELATED [OMIM:140600] synonym: "osteoarthritis susceptibility 2" EXACT [MONDO:Lexical, OMIM:140600] synonym: "osteoarthritis susceptibility 2; OS2" RELATED [OMIM:140600] @@ -137046,7 +138372,7 @@ synonym: "microsomia hemifacial radial defects" RELATED [GARD:0003653] synonym: "Moeschler Clarren syndrome" RELATED [GARD:0003653] synonym: "Moeschler-Clarren syndrome" EXACT [Orphanet:2549] synonym: "Oavs with radial defect" RELATED [OMIM:141400] -synonym: "Oculoauriculovertebral spectrum with radial defect" RELATED [OMIM:141400] +synonym: "oculoauriculovertebral spectrum with radial defect" RELATED [OMIM:141400] xref: GARD:0003653 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:Q75.8 {source="ORDO:2549/attributed", source="Orphanet:2549", source="ORDO:2549/ntbt"} xref: OMIM:141400 {source="Orphanet:2549", source="ORDO:2549/e", source="MONDO:equivalentTo"} @@ -137083,12 +138409,14 @@ id: MONDO:0007714 name: migraine, familial hemiplegic, 1 def: "A migraine disorder characterized by an aura that includes motor weakness and the absence of family history." [NCIT:C117011] subset: gard_rare +synonym: "CACNA1A migraine disorder" EXACT [MONDO:design_pattern] synonym: "familial hemiplegic migraine type 1" RELATED [GARD:0002638] synonym: "Fhm" RELATED [OMIM:141500] synonym: "FHM1" RELATED [GARD:0002638, MONDO:Lexical, OMIM:141500] synonym: "hemiplegic migraine, familial type 1" RELATED [GARD:0002638] synonym: "MHP1" RELATED [GARD:0002638] synonym: "Mhp1" RELATED [OMIM:141500] +synonym: "migraine disorder caused by mutation in CACNA1A" EXACT [MONDO:design_pattern] synonym: "migraine, familial hemiplegic 1, with progressive cerebellar ataxia" RELATED [GARD:0002638, OMIM:141500] synonym: "migraine, familial hemiplegic, 1" EXACT [MONDO:Lexical, OMIM:141500] synonym: "migraine, familial hemiplegic, 1; FHM1" RELATED [OMIM:141500] @@ -137249,12 +138577,14 @@ name: Hirschsprung disease, susceptibility to, 1 def: "Any Hirschsprung disease in which the cause of the disease is a mutation in the RET gene." [MONDO:patterns/disease_series_by_gene] synonym: "aganglionic megacolon" RELATED [OMIM:142623] synonym: "Hirschsprung disease" RELATED [OMIM:142623] +synonym: "Hirschsprung disease caused by mutation in RET" EXACT [MONDO:design_pattern] synonym: "Hirschsprung disease, protection against" RELATED [OMIM:142623] synonym: "Hirschsprung disease, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:142623] synonym: "Hirschsprung disease, susceptibility to, 1; HSCR1" RELATED [OMIM:142623] synonym: "Hirschsprung disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:142623] synonym: "HSCR1" RELATED [MONDO:Lexical, OMIM:142623] synonym: "megacolon, aganglionic" RELATED [OMIM:142623] +synonym: "RET Hirschsprung disease" EXACT [MONDO:design_pattern] synonym: "susceptibility to Hirschsprung disease 1" RELATED [OMIM:142623] xref: OMIM:142623 {source="MONDO:equivalentTo"} xref: Orphanet:388 {source="OMIM:142623", source="MONDO:subClassOf"} @@ -137354,7 +138684,7 @@ xref: SCTID:403833009 {source="MONDO:kboom-pr-0.75/0.37/0.57", source="MONDO:equ xref: UMLS:C1275126 {source="OMIM:142680", source="NCBI:mim2gene_medline", source="NCIT:C119051", source="Orphanet:32960"} is_a: MONDO:0017369 {source="Orphanet:32960"} ! autoinflammatory syndrome with immune deficiency is_a: MONDO:0017370 {source="Orphanet:32960"} ! autoinflammatory syndrome with skin involvement -is_a: MONDO:0017953 {source="Orphanet:32960"} ! hereditary periodic fever syndrome +is_a: MONDO:0017953 {source="MESH:C536657", source="Orphanet:32960"} ! hereditary periodic fever syndrome is_a: MONDO:0019751 {source="MONDO:Redundant", source="NCIT:C119051", source="Orphanet:32960/inferred", source="PMID:23827249"} ! autoinflammatory syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11916 {source="mim2gene_medgen"} ! TNFRSF1A relationship: excluded_subClassOf MONDO:0007179 {source="DOID:0090018"} ! autoimmune disease @@ -137369,7 +138699,9 @@ synonym: "acne inversa, familial, 1" EXACT [MONDO:Lexical, OMIM:142690] synonym: "acne inversa, familial, 1; ACNINV1" RELATED [OMIM:142690] synonym: "acne inversa, familial, type 1" EXACT [MONDORULE:1, OMIM:142690] synonym: "ACNINV1" RELATED [MONDO:Lexical, OMIM:142690] +synonym: "familial acne inversa caused by mutation in NCSTN" EXACT [MONDO:design_pattern] synonym: "hidradenitis suppurativa, familial" RELATED [OMIM:142690] +synonym: "NCSTN familial acne inversa" EXACT [MONDO:design_pattern] xref: OMIM:142690 {source="MONDO:equivalentTo"} xref: Orphanet:387 {source="OMIM:142690"} xref: UMLS:C1840560 {source="OMIM:142690"} @@ -137464,8 +138796,10 @@ synonym: "HLP3" EXACT [DOID:0110875] synonym: "Hlp3" RELATED [OMIM:142945] synonym: "holoprosencephaly 3" EXACT [MONDO:Lexical, OMIM:142945] synonym: "holoprosencephaly 3; HPE3" RELATED [OMIM:142945] +synonym: "holoprosencephaly caused by mutation in SHH" EXACT [MONDO:design_pattern] synonym: "holoprosencephaly type 3" EXACT [DOID:0110875, MONDORULE:1, OMIM:142945] synonym: "HPE3" EXACT [DOID:0110875, MONDO:Lexical, OMIM:142945] +synonym: "SHH holoprosencephaly" EXACT [MONDO:design_pattern] xref: DOID:0110875 {source="MONDO:equivalentTo"} xref: MESH:C564181 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:142945 {source="DOID:0110875", source="MONDO:equivalentTo"} @@ -137483,8 +138817,10 @@ name: holoprosencephaly 4 def: "A rare disorder caused by mutations in the TGIF gene mapped to chromosome 18p11.3. It is characterized by semilobar holoprosencephaly, hypotelorism, and ptosis." [NCIT:C75475] synonym: "holoprosencephaly 4" EXACT [MONDO:Lexical, OMIM:142946] synonym: "holoprosencephaly 4; HPE4" RELATED [OMIM:142946] +synonym: "holoprosencephaly caused by mutation in TGIF1" EXACT [MONDO:design_pattern] synonym: "holoprosencephaly type 4" EXACT [DOID:0110880, MONDORULE:1, OMIM:142946] synonym: "HPE4" EXACT [DOID:0110880, MONDO:Lexical, OMIM:142946] +synonym: "TGIF1 holoprosencephaly" EXACT [MONDO:design_pattern] xref: DOID:0110880 {source="MONDO:equivalentTo"} xref: MESH:C564180 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C75475 {source="MONDO:kboom-pr-1.00/0.91/28.16", source="MONDO:equivalentTo"} @@ -137619,7 +138955,7 @@ xref: SCTID:155006000 {source="DOID:12858"} xref: SCTID:58756001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12858", source="MONDO:equivalentTo"} xref: UMLS:C0020179 {source="Orphanet:399", source="NCBI:mim2gene_medline", source="OMIM:143100", source="NCIT:C82342", source="DOID:12858", source="MONDO:equivalentTo", source="ORDO:399/e"} is_a: MONDO:0000167 {source="MONDO:cjm"} ! Huntington disease and related disorders -is_a: MONDO:0005559 {source="MONDO:Redundant", source="NCIT:C82342", source="Orphanet:399/inferred"} ! neurodegenerative disease +is_a: MONDO:0005559 {source="DOID:12858", source="MONDO:Redundant", source="NCIT:C82342", source="Orphanet:399/inferred"} ! neurodegenerative disease is_a: MONDO:0017646 {source="Orphanet:399"} ! neurodegenerative disease with chorea is_a: MONDO:0020136 {source="MONDO:Redundant", source="Orphanet:399"} ! neurodegenerative disease with dementia is_a: MONDO:0020258 {source="Orphanet:399"} ! oculomotor apraxia or related oculomotor disease @@ -137788,7 +139124,7 @@ xref: ICD9:276.9 {source="i2s", source="MONDO:relatedTo"} xref: OMIM:143860 {source="MONDO:equivalentTo"} xref: SCTID:709413001 {source="MONDO:kboom-pr-0.76/0.38/0.68", source="MONDO:equivalentTo"} xref: UMLS:C1840437 {source="NCBI:mim2gene_medline", source="OMIM:143860"} -is_a: MONDO:0003847 {source="OMIM:143860/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="OMIM:143860/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1371 {source="mim2gene_medgen"} ! CA12 [Term] @@ -137818,12 +139154,14 @@ def: "A condition caused by autosomal recessive loss-of-function mutation(s) in comment: Consider making 143880 it's own subtype subset: ordo_disease {source="Orphanet:300547"} subset: prototype_pattern +synonym: "autosomal recessive hypercalcemia, infantile" EXACT [MONDO:design_pattern] synonym: "familial infantile hypercalcemia with suppressed intact parathyroid hormone" EXACT [Orphanet:300547] synonym: "HCINF1" RELATED [OMIM:143880] synonym: "hypercalcemia, idiopathic, of infancy" RELATED [OMIM:143880] synonym: "hypercalcemia, infantile" RELATED [OMIM:143880] synonym: "hypercalcemia, infantile, 1" RELATED [OMIM:143880] synonym: "hypercalcemia, infantile, 1; HCINF1" RELATED [OMIM:143880] +synonym: "hypercalcemia, infantile, autosomal recessive" EXACT [MONDO:design_pattern] synonym: "idiopathic infantile hypercalcemia" EXACT [NCIT:C129734] xref: ICD10:E83.5 {source="ORDO:300547/ntbt", source="Orphanet:300547", source="ORDO:300547/attributed"} xref: NCIT:C129734 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equivalentTo"} @@ -138030,7 +139368,7 @@ xref: UMLS:C1840427 {source="OMIM:144200"} xref: UMLS:C2931735 {source="ORDO:2199/e", source="Orphanet:2199"} xref: UMLS:C2936837 {source="OMIM:144200"} xref: UMLS:C3489771 {source="OMIM:144200"} -is_a: MONDO:0006590 {source="DOID:0080223", source="linkedlife/inferred"} ! palmoplantar keratosis +is_a: MONDO:0006590 {source="DOID:0080223", source="NCIT:C84693", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! palmoplantar keratosis is_a: MONDO:0020093 {source="Orphanet:2199"} ! autosomal dominant isolated diffuse palmoplantar keratoderma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6412 {source="mim2gene_medgen"} ! KRT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6447 {source="mim2gene_medgen"} ! KRT9 @@ -138165,7 +139503,7 @@ xref: Orphanet:422526 {source="OMIM:144700", source="MONDO:superClassOf"} xref: UMLS:C0279702 {source="Orphanet:319276", source="OMIM:144700"} xref: UMLS:C2750825 {source="OMIM:144700"} xref: UMLS:C3160732 {source="NCBI:mim2gene_medline", source="OMIM:144700"} -is_a: MONDO:0005086 {source="MONDOLEX:0007763", source="Orphanet:319276"} ! renal cell carcinoma (disease) +is_a: MONDO:0005086 {source="DOID:0050387/inferred", source="MONDOLEX:0007763", source="Orphanet:319276"} ! renal cell carcinoma (disease) relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11621 {source="mim2gene_medgen"} ! HNF1A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11630 {source="mim2gene_medgen"} ! HNF1B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12687 {source="mim2gene_medgen"} ! VHL @@ -138284,7 +139622,7 @@ xref: Orphanet:99880 {source="OMIM:145001", source="MONDO:equivalentTo"} xref: SCTID:702378002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1704981 {source="OMIM:145001", source="NCIT:C48287", source="NCBI:mim2gene_medline", source="Orphanet:99880", source="MONDO:equivalentTo"} xref: UMLS:C1840394 {source="OMIM:145001"} -is_a: MONDO:0001741 {source="MONDO:Redundant", source="OMIM:145001", source="linkedlifedata"} ! hyperparathyroidism +is_a: MONDO:0001741 {source="MONDO:Redundant", source="OMIM:145001", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperparathyroidism is_a: MONDO:0015356 {source="MONDO:Redundant", source="NCIT:C48287", source="Orphanet:99880/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0016365 {source="MONDOLEX:0007768", source="Orphanet:99880"} ! familial primary hyperparathyroidism is_a: MONDO:0017891 {source="Orphanet:99880"} ! inherited renal cancer-predisposing syndrome @@ -138307,7 +139645,7 @@ xref: OMIM:145100 {source="DOID:10122", source="MONDO:equivalentTo"} xref: SCTID:41115008 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:10122", source="MONDO:equivalentTo"} xref: UMLS:C0155211 {source="OMIM:145100", source="NCBI:mim2gene_medline", source="DOID:10122", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0006600 {source="DOID:10122", source="EFO:1000711", source="MESH:C562400/inferred"} ! pigmentation disease +is_a: MONDO:0006600 {source="DOID:10122", source="EFO:1000711", source="MESH:C562400/inferred", source="linkedlifedata"} ! pigmentation disease [Term] id: MONDO:0007770 @@ -138463,7 +139801,7 @@ synonym: "Opitz GBBB syndrome, autosomal dominant" RELATED [OMIM:145410] synonym: "Opitz GBBB syndrome, type 2" RELATED [OMIM:145410] synonym: "Opitz GBBB syndrome, type II" RELATED [MONDO:Lexical, OMIM:145410] synonym: "Opitz GBBB syndrome, type II; GBBB2" RELATED [OMIM:145410] -synonym: "Opitz Oculogenitolaryngeal syndrome, type 2" RELATED [OMIM:145410] +synonym: "Opitz oculogenitolaryngeal syndrome, type 2" RELATED [OMIM:145410] synonym: "Opitz-Frias syndrome" RELATED [OMIM:145410] synonym: "Opitz-G syndrome, type 2" RELATED [OMIM:145410] synonym: "telecanthus with associated abnormalities" RELATED [OMIM:145410] @@ -138548,6 +139886,7 @@ synonym: "hyperthermia of anesthesia" RELATED [GARD:0003363, MESH:C535694, OMIM: synonym: "King syndrome" RELATED [OMIM:145600] synonym: "King-Denborough syndrome" RELATED [OMIM:145600] synonym: "KING-Denborough syndrome, included" RELATED [MESH:C535694] +synonym: "malignant hyperthermia of anesthesia caused by mutation in RYR1" EXACT [MONDO:design_pattern] synonym: "malignant hyperthermia susceptibility type 1" RELATED [GARD:0003363] synonym: "malignant hyperthermia, susceptibility to, 1" EXACT [MESH:C535694, MONDO:Lexical, OMIM:145600] synonym: "malignant hyperthermia, susceptibility to, 1; MHS1" RELATED [OMIM:145600] @@ -138555,6 +139894,7 @@ synonym: "malignant hyperthermia, susceptibility to, type 1" EXACT [MONDORULE:1, synonym: "MHS" RELATED [GARD:0003363, MESH:C535694] synonym: "Mhs" RELATED [OMIM:145600] synonym: "MHS1" RELATED [GARD:0003363, MESH:C535694, MONDO:Lexical, OMIM:145600] +synonym: "RYR1 malignant hyperthermia of anesthesia" EXACT [MONDO:design_pattern] synonym: "susceptibility to malignant hyperthermia 1" RELATED [OMIM:145600] xref: EFO:0009071 {source="MONDO:equivalentTo"} xref: GARD:0003363 {source="MONDO:equivalentTo"} @@ -138565,7 +139905,7 @@ xref: Orphanet:99741 {source="MONDO:relatedTo", source="MONDO:superClassOf", sou xref: UMLS:C0024591 {source="MONDO:subClassOf", source="OMIM:145600"} xref: UMLS:C1840365 {source="OMIM:145600"} xref: UMLS:CN031421 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018493 {source="DC-OMIM:145600", source="MESH:C535694", source="MONDOLEX:0007783", source="OMIM:145600"} ! malignant hyperthermia of anesthesia +is_a: MONDO:0018493 {source="DC-OMIM:145600", source="EFO:0009071", source="MESH:C535694", source="MONDOLEX:0007783", source="OMIM:145600"} ! malignant hyperthermia of anesthesia intersection_of: MONDO:0018493 ! malignant hyperthermia of anesthesia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10483 ! RYR1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10483 {source="mim2gene_medgen"} ! RYR1 @@ -138652,7 +139992,7 @@ xref: OMIM:145750 {source="MONDO:equivalentTo"} xref: Orphanet:413 {source="OMIM:145750"} xref: SCTID:34528009 {source="MONDO:kboom-pr-0.66/0.29/0.10", source="MONDO:equivalentTo"} xref: UMLS:C0020480 {source="NCBI:mim2gene_medline", source="OMIM:145750"} -is_a: MONDO:0005347 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! hypertriglyceridemia (disease) +is_a: MONDO:0005347 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypertriglyceridemia (disease) is_a: MONDO:0015902 {source="MONDO:cjm"} ! major hypertriglyceridemia intersection_of: MONDO:0005347 ! hypertriglyceridemia (disease) intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -138704,7 +140044,7 @@ xref: SCTID:111499002 {source="MONDO:kboom-pr-1.00/0.80/8.89", source="MONDO:equ xref: UMLS:C0011195 {source="ORDO:64748/e", source="NCBI:mim2gene_medline", source="Orphanet:64748", source="OMIM:145900", source="MONDO:equivalentTo", source="NCIT:C133087"} is_a: MONDO:0015359 {source="Orphanet:64748"} ! autosomal dominant hereditary demyelinating motor and sensory neuropathy is_a: MONDO:0015361 {source="Orphanet:64748"} ! autosomal recessive hereditary demyelinating motor and sensory neuropathy -is_a: MONDO:0015626 {source="MONDO:Redundant", source="NCIT:C133087", source="OMIM:145900", source="Orphanet:64748/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0050540", source="MONDO:Redundant", source="NCIT:C133087", source="OMIM:145900", source="Orphanet:64748/inferred"} ! Charcot-Marie-tooth disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13797 {source="mim2gene_medgen"} ! PRX relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3239 {source="mim2gene_medgen"} ! EGR2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7225 {source="mim2gene_medgen"} ! MPZ @@ -138716,9 +140056,11 @@ id: MONDO:0007791 name: familial hypocalciuric hypercalcemia 1 def: "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the CASR gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:93372"} +synonym: "CASR familial hypocalciuric hypercalcemia" EXACT [MONDO:design_pattern] synonym: "familial benign hypercalcemia 1" EXACT [DOID:0060700] synonym: "familial benign hypercalcemia 1" RELATED [OMIM:145980] synonym: "familial benign hypercalcemia type 1" RELATED [GARD:0002796] +synonym: "familial hypocalciuric hypercalcemia caused by mutation in CASR" EXACT [MONDO:design_pattern] synonym: "familial hypocalciuric hypercalcemia type 1" EXACT [DOID:0060700, MONDORULE:1] synonym: "familial hypocalciuric hypercalcemia type I" EXACT [DOID:0060700] synonym: "FBH1" RELATED [GARD:0002796] @@ -138940,6 +140282,7 @@ def: "adult hypophosphatasia (A-HPP) is a mildform of hypophosphatasia (see this subset: ordo_clinical_subtype {source="Orphanet:247676"} synonym: "adult phosphoethanolaminuria" EXACT [Orphanet:247676] synonym: "adult Rathburn disease" EXACT [Orphanet:247676] +synonym: "hypophosphatasia of adults" EXACT [MONDO:design_pattern] synonym: "hypophosphatasia, ADULT" RELATED [OMIM:146300] synonym: "hypophosphatasia, mild" RELATED [OMIM:146300] synonym: "mild hypophosphatasia" EXACT [DOID:0110913] @@ -139025,7 +140368,7 @@ xref: MESH:C567191 {source="MONDO:equivalentTo"} xref: OMIM:146450 {source="MONDO:equivalentTo"} xref: Orphanet:440 {source="OMIM:146450", source="MONDO:subClassOf"} xref: UMLS:C2675154 {source="NCBI:mim2gene_medline", source="OMIM:146450", source="MONDO:equivalentTo"} -is_a: MONDO:0005345 {source="DC-OMIM:146450", source="OMIM:146450"} ! hypospadias (disease) +is_a: MONDO:0005345 {source="DC-OMIM:146450", source="MESH:C567191", source="OMIM:146450"} ! hypospadias (disease) property_value: confidence "0.2802926383173294" xsd:double [Term] @@ -139094,7 +140437,7 @@ xref: Orphanet:672 {source="OMIM:146510", source="MONDO:equivalentTo"} xref: SCTID:56677004 {source="DOID:9248", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0265220 {source="OMIM:146510", source="NCBI:mim2gene_medline", source="Orphanet:672", source="ORDO:672/e", source="DOID:9248", source="NCIT:C84987", source="MONDO:equivalentTo"} xref: UMLS:C0342418 {source="Orphanet:672"} -is_a: MONDO:0000839 {source="DOID:9248"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:9248"} ! congenital abnormality is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84987"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:672"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015246 {source="Orphanet:672"} ! syndromic anorectal malformation @@ -139110,10 +140453,12 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7305/palliste id: MONDO:0007805 name: hypotrichosis 2 def: "Any hypotrichosis in which the cause of the disease is a mutation in the CDSN gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CDSN hypotrichosis" EXACT [MONDO:design_pattern] synonym: "Htss" RELATED [OMIM:146520] synonym: "Htss1" EXACT [DOID:0110699] synonym: "hypotrichosis 2" EXACT [MONDO:Lexical, OMIM:146520] synonym: "hypotrichosis 2; HYPT2" RELATED [OMIM:146520] +synonym: "hypotrichosis caused by mutation in CDSN" EXACT [MONDO:design_pattern] synonym: "hypotrichosis simplex of the scalp 1" EXACT [DOID:0110699, OMIM:146520] synonym: "hypotrichosis type 2" EXACT [DOID:0110699, MONDORULE:1, OMIM:146520] synonym: "hypotrichosis, Spanish type" RELATED [OMIM:146520] @@ -139125,7 +140470,7 @@ xref: MESH:C564143 {source="MONDO:equivalentTo"} xref: OMIM:146520 {source="DOID:0110699", source="MONDO:equivalentTo"} xref: Orphanet:90368 {source="OMIM:146520", source="MONDO:subClassOf"} xref: UMLS:C1840299 {source="NCBI:mim2gene_medline", source="OMIM:146520"} -is_a: MONDO:0003037 {source="DC-OMIM:146520", source="DOID:0110699", source="MONDO:Redundant", source="OMIM:146520", source="OMIM:146520/inferred"} ! hypotrichosis +is_a: MONDO:0003037 {source="DC-OMIM:146520", source="DOID:0110699", source="MESH:C564143", source="MONDO:Redundant", source="OMIM:146520", source="OMIM:146520/inferred"} ! hypotrichosis is_a: MONDO:0019575 {source="ORDO:90368/btnt"} ! hypotrichosis simplex of the scalp intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1802 ! CDSN @@ -139137,8 +140482,10 @@ id: MONDO:0007806 name: hypotrichosis 4 def: "Any hypotrichosis in which the cause of the disease is a mutation in the HR gene." [MONDO:patterns/disease_series_by_gene] comment: Editor note: consider merging into MUHH +synonym: "HR hypotrichosis" EXACT [MONDO:design_pattern] synonym: "hypotrichosis 4" EXACT [MONDO:Lexical, OMIM:146550] synonym: "hypotrichosis 4; HYPT4" RELATED [OMIM:146550] +synonym: "hypotrichosis caused by mutation in HR" EXACT [MONDO:design_pattern] synonym: "hypotrichosis type 4" EXACT [DOID:0110701, MONDORULE:1, OMIM:146550] synonym: "hypotrichosis, Marie Unna type, 1" EXACT [DOID:0110701] synonym: "hypotrichosis, Marie Unna type, 1" RELATED [OMIM:146550] @@ -139151,7 +140498,7 @@ xref: MESH:C567718 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:146550 {source="DOID:0110701", source="MONDO:equivalentTo"} xref: Orphanet:444 {source="OMIM:146550", source="MONDO:subClassOf"} xref: UMLS:C2750815 {source="NCBI:mim2gene_medline", source="OMIM:146550", source="MONDO:equivalentTo"} -is_a: MONDO:0003037 {source="MESH:C567718", source="MONDO:Redundant", source="OMIM:146550"} ! hypotrichosis +is_a: MONDO:0003037 {source="DOID:0110701", source="MESH:C567718", source="MONDO:Redundant", source="OMIM:146550"} ! hypotrichosis is_a: MONDO:0018631 {source="ORDO:444/btnt"} ! Marie Unna hereditary hypotrichosis intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5172 ! HR @@ -139222,6 +140569,7 @@ synonym: "dominant congenital ichthyosiform erythroderma (disorder)" EXACT [DOID synonym: "dominant ichthyosis vulgaris" RELATED [GARD:0001897] synonym: "ichthyosis simplex" RELATED [OMIM:146700] synonym: "ichthyosis vulgaris" RELATED [OMIM:146700] +synonym: "ichthyosis vulgaris, autosomal dominant" EXACT [MONDO:design_pattern] xref: DOID:1702 {source="MONDO:equivalentTo"} xref: GARD:0001897 {source="MONDO:equivalentTo"} xref: ICD10:Q80.0 {source="DOID:1702", source="MONDO:equivalentTo"} @@ -139303,7 +140651,7 @@ xref: UMLS:C0432306 {source="Orphanet:455", source="DOID:0060877", source="NCBI: xref: UMLS:C1838440 {source="MONDO:subClassOf", source="OMIM:146800"} is_a: MONDO:0017266 {source="Orphanet:455"} ! keratinopathic ichthyosis is_a: MONDO:0017339 ! exfoliative ichthyosis -is_a: MONDO:0019269 {source="MESH:D053560", source="MONDO:Redundant", source="NCIT:C84777", source="Orphanet:455/inferred"} ! ichthyosis (disease) +is_a: MONDO:0019269 {source="DOID:0060877", source="MESH:D053560", source="MONDO:Redundant", source="NCIT:C84777", source="Orphanet:455/inferred"} ! ichthyosis (disease) relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6439 {source="mim2gene_medgen"} ! KRT2 property_value: confidence "0.38888888888888884" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2966/ichthyosis-bullosa-of-siemens xsd:anyURI {source="GARD:0002966"} @@ -139542,6 +140890,7 @@ id: MONDO:0007827 name: inclusion body myositis def: "Inclusion body myositis (IBM) is a slowly progressive degenerative inflammatory disorder of skeletal muscles characterized by late onset weakness of specific muscles and distinctive histopathological features." [Orphanet:611] subset: ordo_disease {source="Orphanet:611"} +synonym: "Distal Myopathy with Rimmed Vacuoles" EXACT [DOID:3429] synonym: "distal Myopathy with rimmed vacuoles (DMRV)" EXACT [DOID:3429] synonym: "distal myopathy, Nonaka type" EXACT [DOID:3429] synonym: "hereditary inclusion body Myopathy" EXACT [DOID:3429] @@ -139576,7 +140925,7 @@ xref: Orphanet:611 {source="OMIM:147421", source="MONDO:equivalentTo"} xref: SCTID:72315009 {source="MONDO:kboom-pr-0.92/0.83/0.09", source="DOID:3429", source="MONDO:equivalentTo"} xref: UMLS:C0238190 {source="NCBI:mim2gene_medline", source="OMIM:147421", source="ORDO:611/e", source="NCIT:C84786", source="DOID:3429", source="MONDO:equivalentTo", source="Orphanet:611"} xref: UMLS:C0751713 {source="Orphanet:611"} -is_a: MONDO:0021167 {source="EFO:0007323", source="MESH:D018979", source="MONDOLEX:0007827", source="NCIT:C84786", source="linkedlifedata"} ! myositis +is_a: MONDO:0021167 {source="DOID:3429", source="EFO:0007323", source="MESH:D018979", source="MONDOLEX:0007827", source="NCIT:C84786", source="linkedlifedata", source="linkedlifedata/inferred"} ! myositis property_value: confidence "0.00588235294117645" xsd:double [Term] @@ -139655,7 +141004,7 @@ xref: OMIM:147630 {source="MONDO:equivalentTo"} xref: SCTID:274944000 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0027773 {source="NCIT:C4375"} xref: UMLS:C1578917 {source="NCBI:mim2gene_medline", source="OMIM:147630", source="MONDO:equivalentTo"} -is_a: MONDO:0001933 {source="NCIT:C4375"} ! endocrine pancreas disease +is_a: MONDO:0001933 {source="NCIT:C4375", source="linkedlifedata"} ! endocrine pancreas disease is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -139680,7 +141029,7 @@ xref: SCTID:35327006 {source="DOID:8446"} xref: SCTID:49723003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:8446", source="MONDO:equivalentTo"} xref: UMLS:C0021933 {source="NCBI:mim2gene_medline", source="DOID:8446", source="MONDO:equivalentTo", source="OMIM:147710"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0004565 {source="DOID:8446", source="MESH:D007443", source="linkedlifedata"} ! intestinal obstruction +is_a: MONDO:0004565 {source="DOID:8446", source="MESH:D007443", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal obstruction [Term] id: MONDO:0007836 @@ -139691,7 +141040,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:2307"} synonym: "Instituto venezolano de Investigaciones Cientificas syndrome" RELATED [GARD:0000269] synonym: "IVIC syndrome" EXACT [OMIM:147750] synonym: "oculo-oto-radial syndrome" EXACT [Orphanet:2307] -synonym: "Oculootoradial syndrome" RELATED [OMIM:147750] +synonym: "oculootoradial syndrome" RELATED [OMIM:147750] synonym: "OORS" RELATED [GARD:0000269] synonym: "radial Ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" RELATED [OMIM:147750] synonym: "radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia" EXACT [Orphanet:2307] @@ -139886,9 +141235,11 @@ property_value: confidence "0.37362637362637363" xsd:double id: MONDO:0007844 name: hypogonadotropic hypogonadism 2 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGFR1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FGFR1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] synonym: "HH2" RELATED [MONDO:Lexical, OMIM:147950] synonym: "hypogonadotropic hypogonadism 2 with or without anosmia" EXACT [MONDO:Lexical, OMIM:147950] synonym: "hypogonadotropic hypogonadism 2 with or without anosmia; HH2" RELATED [OMIM:147950] +synonym: "hypogonadotropic hypogonadism caused by mutation in FGFR1" EXACT [MONDO:design_pattern] synonym: "KAL2" RELATED [GARD:0003070] synonym: "Kallmann syndrome 2" RELATED [OMIM:147950] xref: DOID:0090083 {source="MONDO:equivalentTo"} @@ -139896,7 +141247,7 @@ xref: GARD:0003070 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090083", source="MONDO:relatedTo"} xref: OMIM:147950 {source="DOID:0090083", source="MONDO:equivalentTo"} xref: UMLS:C1563720 {source="OMIM:147950", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:0007844/inferred", source="MONDO:Redundant", source="MONDOLEX:0007844/inferred", source="OMIM:147950"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090083", source="MONDO:0007844/inferred", source="MONDO:Redundant", source="MONDOLEX:0007844/inferred", source="OMIM:147950"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="MONDOLEX:0007844"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3688 ! FGFR1 @@ -140165,6 +141516,7 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0007858 name: palmoplantar keratoderma, punctate type 1A def: "Any punctate palmoplantar keratoderma in which the cause of the disease is a mutation in the AAGAB gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AAGAB punctate palmoplantar keratoderma" EXACT [MONDO:design_pattern] synonym: "keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type" RELATED [OMIM:148600] synonym: "keratosis palmoplantaris papulosa" RELATED [OMIM:148600] synonym: "Kppp1" RELATED [OMIM:148600] @@ -140172,6 +141524,7 @@ synonym: "palmoplantar keratoderma, punctate type 1" RELATED [OMIM:148600] synonym: "palmoplantar keratoderma, punctate type IA" RELATED [MONDO:Lexical, OMIM:148600] synonym: "palmoplantar keratoderma, punctate type IA; PPKP1A" RELATED [OMIM:148600] synonym: "PPKP1A" RELATED [MONDO:Lexical, OMIM:148600] +synonym: "punctate palmoplantar keratoderma caused by mutation in AAGAB" EXACT [MONDO:design_pattern] synonym: "punctate palmoplantar keratoderma type 1A" RELATED [DOID:0080214] xref: DOID:0080214 {source="MONDO:equivalentTo"} xref: OMIM:148600 {source="DOID:0080214", source="MONDO:equivalentTo"} @@ -140306,7 +141659,7 @@ xref: Orphanet:33543 {source="OMIM:148840", source="MONDO:equivalentTo"} xref: SCTID:111488004 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0206085 {source="NCBI:mim2gene_medline", source="OMIM:148840", source="NCIT:C84800", source="ORDO:33543/e", source="MONDO:equivalentTo", source="Orphanet:33543"} is_a: MONDO:0002254 {source="MONDOLEX:0007863", source="NCIT:C84800"} ! syndromic disease -is_a: MONDO:0003406 {source="MESH:D017593/inferred", source="MONDO:Redundant", source="NCIT:C84800"} ! sleep-wake disorder +is_a: MONDO:0003406 {source="DOID:0060165/inferred", source="EFO:1001354/inferred", source="MESH:D017593/inferred", source="MONDO:Redundant", source="NCIT:C84800", source="linkedlifedata"} ! sleep-wake disorder is_a: MONDO:0004617 {source="DOID:0060165"} ! recurrent hypersomnia is_a: MONDO:0019045 {source="MONDO:Entailed", source="Orphanet:33543"} ! rare sleep disorder is_a: MONDO:0019117 {source="OWLReasoner:2017"} ! genetic nervous system disorder @@ -140353,7 +141706,7 @@ is_a: MONDO:0015948 {source="Orphanet:2346"} ! rare genetic skin vascular disord is_a: MONDO:0016229 {source="MONDO:Entailed", source="Orphanet:2346", source="Orphanet:2346/inferred"} ! genetic vascular anomaly is_a: MONDO:0016235 {source="Orphanet:2346"} ! complex vascular malformation with associated anomalies is_a: MONDO:0016524 {source="Orphanet:2346"} ! congenital vascular bone syndrome -is_a: MONDO:0019293 {source="Orphanet:2346"} ! skin vascular disease +is_a: MONDO:0019293 {source="Orphanet:2346", source="linkedlifedata/inferred"} ! skin vascular disease is_a: MONDO:0019716 {source="Orphanet:2346"} ! overgrowth syndrome is_a: MONDO:0020063 {source="Orphanet:2346"} ! malformation syndrome with hamartosis property_value: confidence "0.21499999999999986" xsd:double @@ -140442,7 +141795,7 @@ xref: MESH:D000071017 {source="DOID:0060696"} xref: OMIM:149400 {source="DOID:0060696", source="MONDO:equivalentTo"} xref: Orphanet:3197 {source="OMIM:149400", source="DOID:0060696", source="MONDO:subClassOf"} xref: UMLS:C1835614 {source="NCBI:mim2gene_medline", source="OMIM:149400"} -is_a: MONDO:0021022 {source="MONDOLEX:0007868"} ! hereditary hyperekplexia +is_a: MONDO:0021022 {source="DOID:0060696", source="MONDOLEX:0007868", source="OMIM:149400"} ! hereditary hyperekplexia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15465 {source="mim2gene_medgen"} ! GPHN relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4326 {source="mim2gene_medgen"} ! GLRA1 property_value: confidence "1.4444444444444446" xsd:double @@ -140740,10 +142093,12 @@ synonym: "lateral incisors, absence of" RELATED [OMIM:150400] synonym: "lateral incisors, pegged or missing" RELATED [OMIM:150400] synonym: "STHAG4" RELATED [MONDO:Lexical, OMIM:150400] synonym: "succedaneous teeth, agenesis of" RELATED [OMIM:150400] +synonym: "tooth agenesis caused by mutation in WNT10A" EXACT [MONDO:design_pattern] synonym: "tooth agenesis, selective, 4" EXACT [MONDO:Lexical, OMIM:150400] synonym: "Tooth agenesis, selective, 4, with or without ectodermal dysplasia" RELATED [OMIM:150400] synonym: "TOOTH agenesis, selective, 4; STHAG4" RELATED [OMIM:150400] synonym: "Tooth agenesis, selective, type 4" EXACT [MONDORULE:1, OMIM:150400] +synonym: "WNT10A tooth agenesis" EXACT [MONDO:design_pattern] xref: MESH:C563634 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:150400 {source="MONDO:equivalentTo"} xref: Orphanet:2227 {source="OMIM:150400"} @@ -140838,7 +142193,7 @@ xref: SCTID:240241003 {source="DOID:14415"} xref: SCTID:270545000 {source="DOID:14415"} xref: UMLS:C0022441 {source="DOID:14415"} xref: UMLS:C0023234 {source="OMIM:150600", source="ORDO:2380/e", source="NCBI:mim2gene_medline", source="Orphanet:2380", source="NCIT:C34766", source="DOID:14415", source="MONDO:equivalentTo"} -is_a: MONDO:0005380 {source="MESH:D007873/inferred", source="MONDO:Redundant", source="NCIT:C34766", source="Orphanet:2380/inferred"} ! osteonecrosis +is_a: MONDO:0005380 {source="DOID:14415/inferred", source="MESH:D007873/inferred", source="MONDO:Redundant", source="NCIT:C34766", source="Orphanet:2380/inferred"} ! osteonecrosis is_a: MONDO:0018381 {source="DOID:14415", source="MONDO:Redundant", source="Orphanet:2380", source="linkedlifedata"} ! osteochondrosis is_a: MONDO:0019686 {source="Orphanet:2380"} ! type 2 collagen-related bone disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2200 {source="mim2gene_medgen"} ! COL2A1 @@ -140908,10 +142263,10 @@ xref: UMLS:C0042133 {source="OMIM:150699", source="NCBI:mim2gene_medline", sourc xref: UMLS:C2242776 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000632 {source="DOID:13223", source="MONDO:Redundant", source="NCIT:C3434/inferred", source="linkedlifedata"} ! uterine benign neoplasm is_a: MONDO:0001572 {source="MONDO:Entailed", source="NCIT:C3434", source="linkedlifedata"} ! leiomyoma -is_a: MONDO:0002654 {source="MONDO:Redundant", source="NCIT:C3434/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! uterine disease +is_a: MONDO:0002654 {source="DOID:13223/inferred", source="MONDO:Redundant", source="NCIT:C3434/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! uterine disease is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0005167 {source="DOID:13223"} ! fibroma -is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C3434/inferred", source="ONCOTREE:ULM/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! tumor of uterus +is_a: MONDO:0021353 {source="MONDO:Redundant", source="NCIT:C3434/inferred", source="ONCOTREE:ULM/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! tumor of uterus is_a: MONDO:0021525 {source="MONDO:Entailed", source="NCIT:C3434", source="OWLReasoner:Elk-2018-01-13"} ! benign neoplasm of corpus uteri intersection_of: MONDO:0001572 ! leiomyoma intersection_of: disease_has_location UBERON:0009853 ! body of uterus @@ -141200,7 +142555,7 @@ xref: UMLS:C0457334 {source="Orphanet:514", source="ORDO:514/e"} xref: UMLS:C1318544 {source="Orphanet:514", source="ORDO:514/e", source="MONDO:equivalentTo"} is_a: MONDO:0004600 {source="DOID:8864", source="MONDO:Entailed"} ! monocytic leukemia is_a: MONDO:0011118 {source="EFO:0000221"} ! bilineal acute myeloid leukemia -is_a: MONDO:0018874 {source="EFO:0000221", source="MESH:D007948", source="NCIT:C4861/inferred", source="ONCOTREE:AMOL/inferred", source="Orphanet:514/inferred", source="linkedlife/inferred"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="EFO:0000221", source="MESH:D007948", source="NCIT:C4861/inferred", source="ONCOTREE:AMOL/inferred", source="Orphanet:514/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! acute myeloid leukemia intersection_of: MONDO:0004600 ! monocytic leukemia intersection_of: has_modifier PATO:0000389 ! acute property_value: seeAlso https://rarediseases.info.nih.gov/diseases/525/acute-monoblastic-leukemia xsd:anyURI {source="GARD:0000525"} @@ -141248,6 +142603,7 @@ name: nonsyndromic congenital nail disorder 3 def: "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the PLCD1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare synonym: "Gorlin Bushkell Jensen syndrome" RELATED [GARD:0002555] +synonym: "inherited isolated nail anomaly caused by mutation in PLCD1" EXACT [MONDO:design_pattern] synonym: "leukonychia punctata" RELATED [OMIM:151600] synonym: "leukonychia Striatus" RELATED [OMIM:151600] synonym: "leukonychia totalis and/or partialis" RELATED [OMIM:151600] @@ -141257,6 +142613,7 @@ synonym: "nail disorder, nonsyndromic congenital, 3; NDNC3" RELATED [OMIM:151600 synonym: "nail disorder, nonsyndromic congenital, type 3" EXACT [MONDORULE:1, OMIM:151600] synonym: "NDNC3" RELATED [MONDO:Lexical, OMIM:151600] synonym: "nonsyndromic congenital nail disorder type 3" EXACT [DOID:0080081, MONDORULE:1] +synonym: "PLCD1 inherited isolated nail anomaly" EXACT [MONDO:design_pattern] synonym: "porcelain nails" RELATED [OMIM:151600] xref: DOID:0080081 {source="MONDO:equivalentTo"} xref: GARD:0002555 {source="MONDO:equivalentTo"} @@ -141309,11 +142666,13 @@ synonym: "LFS" RELATED [OMIM:151623] synonym: "LFS1" RELATED [MONDO:Lexical, OMIM:151623] synonym: "Li-Fraumeni syndrome 1" EXACT [MONDO:Lexical, OMIM:151623] synonym: "LI-Fraumeni syndrome 1; LFS1" RELATED [OMIM:151623] +synonym: "Li-Fraumeni syndrome caused by mutation in TP53" EXACT [MONDO:design_pattern] synonym: "Li-Fraumeni syndrome type 1" EXACT [MONDORULE:1, OMIM:151623] synonym: "LI-Fraumeni syndrome; LFS" RELATED [OMIM:151623] synonym: "Li-Fraumeni-Like syndrome" RELATED [OMIM:151623] synonym: "sarcoma family syndrome of 51 and Fraumeni" RELATED [OMIM:151623] synonym: "Sbla syndrome" RELATED [OMIM:151623] +synonym: "TP53 Li-Fraumeni syndrome" EXACT [MONDO:design_pattern] xref: OMIM:151623 {source="MONDO:equivalentTo"} xref: Orphanet:524 {source="OMIM:151623", source="MONDO:subClassOf"} xref: UMLS:C1835398 {source="OMIM:151623", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -141345,7 +142704,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3440/median-n [Term] id: MONDO:0007905 name: lip, hamartomatous -synonym: "enlargement of Lower 51P" RELATED [OMIM:151640] +synonym: "enlargement of Lower lip" RELATED [OMIM:151640] synonym: "lip, hamartomatous" EXACT [OMIM:151640] xref: MESH:C563621 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:151640 {source="MONDO:equivalentTo"} @@ -141634,15 +142993,18 @@ xref: UMLS:C3501946 {source="Orphanet:2526"} is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:2526", source="Orphanet:2526/inferred"} ! genetic vascular anomaly is_a: MONDO:0017119 {source="Orphanet:2526"} ! syndrome with microcephaly as major feature is_a: MONDO:0018722 {source="Orphanet:2526"} ! primary lymphedema with associated anomalies -is_a: MONDO:0019118 {source="Orphanet:2526"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:2526"} ! inherited retinal dystrophy is_a: MONDO:0019520 {source="MONDO:Entailed", source="Orphanet:2526"} ! syndromic lymphedema relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6388 {source="mim2gene_medgen"} ! KIF11 +relationship: disease_has_feature MONDO:0019118 {source="modified-Orphanet:2526"} ! inherited retinal dystrophy property_value: confidence "22.000000000000004" xsd:double [Term] id: MONDO:0007919 name: lymphedema, hereditary, 1A def: "Any hereditary lymphedema in which the cause of the disease is a mutation in the FLT4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FLT4 hereditary lymphedema" EXACT [MONDO:design_pattern] +synonym: "hereditary lymphedema caused by mutation in FLT4" EXACT [MONDO:design_pattern] synonym: "LMPH1A" RELATED [MONDO:Lexical, OMIM:153100] synonym: "lymphedema, early-onset" RELATED [OMIM:153100] synonym: "lymphedema, hereditary, IA" RELATED [MONDO:Lexical, OMIM:153100] @@ -141718,7 +143080,7 @@ xref: Orphanet:662 {source="OMIM:153300", source="MONDO:equivalentTo"} xref: SCTID:400211001 {source="MONDO:kboom-pr-1.00/0.79/7.68", source="DOID:0050468", source="MONDO:equivalentTo"} xref: SCTID:45342007 {source="DOID:0050468"} xref: UMLS:C0221348 {source="Orphanet:662", source="NCBI:mim2gene_medline", source="NCIT:C85238", source="OMIM:153300", source="DOID:0050468", source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85238"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050468", source="MONDO:Redundant", source="NCIT:C85238"} ! syndromic disease is_a: MONDO:0017017 {source="Orphanet:662"} ! primary interstitial lung disease specific to childhood due to alveolar vascular disorder is_a: MONDO:0018722 {source="Orphanet:662"} ! primary lymphedema with associated anomalies is_a: MONDO:0019285 {source="Orphanet:662"} ! syndromic nail anomaly @@ -141855,7 +143217,7 @@ xref: UMLS:C1835193 {source="OMIM:153550"} is_a: MONDO:0002281 {source="DOID:0090016", source="MESH:C535323", source="MONDOLEX:0007925"} ! macrocytic anemia (disease) is_a: MONDO:0015972 {source="OWLReasoner:2017"} ! rare constitutional anemia is_a: MONDO:0016904 ! partial deletion of the long arm of chromosome 5 -is_a: MONDO:0018881 {source="NCIT:C6867", source="Orphanet:86841"} ! myelodysplastic syndrome +is_a: MONDO:0018881 {source="NCIT:C6867", source="Orphanet:86841", source="linkedlifedata"} ! myelodysplastic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10387 {source="mim2gene_medgen"} ! RPS14 property_value: confidence "11.749999999999988" xsd:double @@ -141889,7 +143251,7 @@ xref: Orphanet:33226 {source="DOID:0060901", source="MONDO:equivalentTo", source xref: UMLS:C0024419 {source="NCIT:C80307", source="Orphanet:33226", source="DOID:0060901", source="ORDO:33226/e", source="MONDO:equivalentTo"} xref: UMLS:C1835192 {source="NCBI:mim2gene_medline", source="OMIM:153600"} xref: UMLS:C3549870 {source="OMIM:153600"} -is_a: MONDO:0000432 {source="NCIT:C80307", source="ONCOTREE:WM"} ! lymphoplasmacytic lymphoma +is_a: MONDO:0000432 {source="DOID:0060901", source="NCIT:C80307", source="ONCOTREE:WM"} ! lymphoplasmacytic lymphoma is_a: MONDO:0016138 {source="Orphanet:33226"} ! malignant lymphoma with peripheral neuropathy is_a: MONDO:0017594 {source="Orphanet:33226"} ! indolent B-cell non-Hodgkin lymphoma is_a: MONDO:0019052 ! inborn errors of metabolism @@ -142096,7 +143458,7 @@ xref: SCTID:193387007 {source="DOID:4447"} xref: SCTID:312921000 {source="MONDO:kboom-pr-0.88/0.76/0.10", source="MONDO:equivalentTo"} xref: UMLS:C0024440 {source="DOID:4447", source="NCBI:mim2gene_medline", source="NCIT:C34794", source="OMIM:153880", source="MONDO:equivalentTo"} xref: UMLS:C0730317 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003005 {source="DOID:4447", source="MONDOLEX:0007935", source="NCIT:C34794", source="linkedlifedata"} ! macular retinal edema +is_a: MONDO:0003005 {source="DOID:4447", source="MONDOLEX:0007935", source="NCIT:C34794", source="linkedlifedata", source="linkedlifedata/inferred"} ! macular retinal edema is_a: MONDO:0020244 {source="Orphanet:75381"} ! unclassified primitive or secondary maculopathy property_value: confidence "3.0625" xsd:double @@ -142117,6 +143479,7 @@ def: "Autosomal dominant primary hypomagnesemia with hypocalciuria (ADPHH) is a subset: gard_rare {source="GARD:0003350"} subset: ordo_disease {source="Orphanet:34528"} synonym: "autosomal dominant primary hypomagnesemia with hypocalciuria" EXACT [DOID:0060885] +synonym: "FXYD2 primary hypomagnesemia" EXACT [MONDO:design_pattern] synonym: "HOMG2" EXACT [DOID:0060885, MONDO:Lexical, OMIM:154020, Orphanet:34528] synonym: "hypomagnesemia 2, renal" RELATED [MONDO:Lexical, OMIM:154020] synonym: "hypomagnesemia 2, renal; HOMG2" RELATED [OMIM:154020] @@ -142124,6 +143487,7 @@ synonym: "isolated autosomal dominant hypomagnesemia" EXACT [Orphanet:34528] synonym: "isolated renal magnesium wasting" EXACT [Orphanet:34528] synonym: "magnesium loss, isolated renal" RELATED [OMIM:154020] synonym: "magnesium wasting, renal" RELATED [OMIM:154020] +synonym: "primary hypomagnesemia caused by mutation in FXYD2" EXACT [MONDO:design_pattern] synonym: "renal hypomagnesemia type 2" EXACT [DOID:0060885, MONDORULE:1, Orphanet:34528] xref: DOID:0060885 {source="MONDO:equivalentTo"} xref: GARD:0003350 {source="MONDO:equivalentTo"} @@ -142134,7 +143498,7 @@ xref: Orphanet:34528 {source="OMIM:154020", source="DOID:0060885", source="MONDO xref: UMLS:C1835171 {source="NCBI:mim2gene_medline", source="Orphanet:34528", source="OMIM:154020", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C4511005 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0017625 {source="Orphanet:34528"} ! familial primary hypomagnesemia with hypocalcuria -is_a: MONDO:0018100 {source="MONDO:Redundant", source="OMIM:154020", source="Orphanet:34528/inferred"} ! primary hypomagnesemia +is_a: MONDO:0018100 {source="DOID:0060885", source="MONDO:Redundant", source="OMIM:154020", source="Orphanet:34528/inferred"} ! primary hypomagnesemia intersection_of: MONDO:0018100 ! primary hypomagnesemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4026 ! FXYD2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4026 {source="mim2gene_medgen"} ! FXYD2 @@ -142267,12 +143631,14 @@ id: MONDO:0007944 name: Treacher-Collins syndrome 1 def: "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the TCOF1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "mandibulofacial dysostosis" RELATED [OMIM:154500] +synonym: "TCOF1 Treacher-Collins syndrome" EXACT [MONDO:design_pattern] synonym: "TCS1" RELATED [MONDO:Lexical, OMIM:154500] synonym: "Treacher Collins syndrome" RELATED [OMIM:154500] synonym: "TREACHER COLLINS syndrome 1" RELATED [MONDO:Lexical, OMIM:154500] synonym: "TREACHER COLLINS syndrome 1; TCS1" RELATED [OMIM:154500] synonym: "Treacher Collins syndrome type 1" EXACT [MONDORULE:1, OMIM:154500] synonym: "Treacher Collins-Franceschetti syndrome" RELATED [OMIM:154500] +synonym: "Treacher-Collins syndrome caused by mutation in TCOF1" EXACT [MONDO:design_pattern] xref: OMIM:154500 {source="Orphanet:861", source="ORDO:861/e", source="MONDO:equivalentTo"} xref: UMLS:C0242387 {source="Orphanet:861", source="ORDO:861/e", source="OMIM:154500"} xref: UMLS:CN119605 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -142323,7 +143689,7 @@ xref: SCTID:204090000 {source="DOID:560"} xref: SCTID:36603006 {source="DOID:560"} xref: SCTID:5127009 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:560", source="MONDO:equivalentTo"} xref: UMLS:C0266521 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr97-c99", source="Orphanet:91412", source="DOID:560", source="MONDO:equivalentTo", source="OMIM:154600"} -is_a: MONDO:0003569 {source="DOID:560", source="linkedlifedata"} ! cranial nerve neuropathy +is_a: MONDO:0003569 {source="DOID:560", source="linkedlifedata", source="linkedlifedata/inferred"} ! cranial nerve neuropathy is_a: MONDO:0020127 {source="OWLReasoner:2017"} ! genetic peripheral neuropathy is_a: MONDO:0020169 {source="Orphanet:91412"} ! rare disorder with ptosis property_value: confidence "3.7222222222222223" xsd:double @@ -142386,7 +143752,7 @@ xref: GARD:0003387 {source="MONDO:equivalentTo"} xref: MESH:C531742 {source="MONDO:equivalentTo"} xref: OMIM:154750 {source="MONDO:equivalentTo"} xref: UMLS:C0268365 {source="NCBI:mim2gene_medline", source="OMIM:154750", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C531742/inferred"} ! inherited genetic disease relationship: excluded_subClassOf MONDO:0007947 {source="MESH:C531742"} ! Marfan syndrome property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3387/marfanoid-hypermobility-syndrome xsd:anyURI {source="GARD:0003387"} @@ -142412,7 +143778,7 @@ is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C128115"} ! syndromi is_a: MONDO:0015161 {source="Orphanet:560"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015218 {source="Orphanet:560"} ! syndromic developmental defect of the eye is_a: MONDO:0016761 {source="Orphanet:560"} ! spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia -is_a: MONDO:0019287 {source="Orphanet:560", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="Orphanet:560", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0019687 {source="Orphanet:560"} ! type 11 collagen-related bone disorder is_a: MONDO:0020208 {source="Orphanet:560"} ! syndromic myopia is_a: MONDO:0020222 {source="Orphanet:560"} ! rare disease with glaucoma as a major feature @@ -142554,7 +143920,7 @@ xref: SCTID:253775007 {source="DOID:9487"} xref: SCTID:264256006 {source="DOID:9487"} xref: SCTID:37373007 {source="EFO:1001036", source="MONDO:kboom-pr-1.00/0.91/27.41", source="DOID:9487", source="MONDO:equivalentTo"} xref: UMLS:C0025037 {source="OMIM:155140", source="NCBI:mim2gene_medline", source="DOID:9487"} -is_a: MONDO:0000839 {source="DOID:9487"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:9487"} ! congenital abnormality is_a: MONDO:0003847 {source="EFO:1001036", source="linkedlifedata"} ! inherited genetic disease [Term] @@ -142563,8 +143929,8 @@ name: Pai syndrome def: "Pai syndrome is an idiopathic developmental disorder characterized by median cleft of the upper lip (MCL), midline polyps of the facial skin and nasal mucosa, and pericallosal lipomas. Hypertelorism with ocular anomalies are also observed, generally with normal neuropsychological development." [Orphanet:1993] subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1993"} -synonym: "cleft, Median, of upper 51P with polyps of Facial skin and nasal mucosa" RELATED [OMIM:155145] synonym: "cleft, MEDIAN, of upper LIP with polyps of facial skin and nasal mucosa" RELATED [OMIM:155145] +synonym: "cleft, Median, of upper lip with polyps of Facial skin and nasal mucosa" RELATED [OMIM:155145] synonym: "Median cleft of the upper lip-corpus callosum lipoma-cutaneous polyps syndrome" EXACT [GARD:0003439, Orphanet:1993] synonym: "Median cleft of upper lip with polyps of facial skin and nasal mucosa" RELATED [GARD:0003439] synonym: "Pai syndrome" EXACT [GARD:0003439, OMIM:155145] @@ -142712,7 +144078,7 @@ xref: UMLS:C0266833 {source="OMIM:155310", source="MONDO:superClassOf"} xref: UMLS:C1608393 {source="NCIT:C98982", source="Orphanet:2241", source="ORDO:2241/e", source="DOID:0060610", source="MONDO:equivalentTo"} xref: UMLS:C1835084 {source="NCBI:mim2gene_medline", source="OMIM:155310", source="MONDO:superClassOf"} xref: UMLS:C1864996 {source="OMIM:155310", source="MONDO:relatedTo"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C98982"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060610", source="MONDO:Redundant", source="NCIT:C98982"} ! syndromic disease is_a: MONDO:0015184 {source="Orphanet:2241"} ! rare disease involving intestinal motility is_a: MONDO:0019721 {source="Orphanet:2241"} ! syndromic renal or urinary tract malformation @@ -142826,7 +144192,7 @@ xref: OMIM:155755 {source="ORDO:252206/e", source="MONDO:equivalentTo", source=" xref: Orphanet:252206 {source="MONDO:equivalentTo", source="OMIM:155755"} xref: SCTID:717968005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1835042 {source="NCBI:mim2gene_medline", source="ORDO:252206/e", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="Orphanet:252206", source="OMIM:155755"} -is_a: MONDO:0005105 {source="MONDO:Redundant", source="linkedlifedata"} ! melanoma (disease) +is_a: MONDO:0005105 {source="MESH:C536149", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! melanoma (disease) is_a: MONDO:0005872 {source="MESH:C536149", source="OWLReasoner:Elk-2018-03-06", source="linkedlifedata"} ! nervous system cancer is_a: MONDO:0015356 {source="Orphanet:252206", source="linkedlifedata"} ! hereditary neoplastic syndrome is_a: MONDO:0016756 {source="Orphanet:252206"} ! inherited nervous system cancer-predisposing syndrome @@ -142965,7 +144331,9 @@ name: intellectual disability, autosomal dominant 1 def: "An autosomal dominant condition caused by mutation(s) in the MBD5 gene, encoding methyl-CpG-binding domain protein 5. It is characterized by severe developmental and cognitive delay, short stature, craniofacial dysmorphism, and seizures." [NCIT:C141424] synonym: "autosomal dominant mental retardation 1" EXACT [DOID:0070031] synonym: "autosomal dominant non-syndromic intellectual disability 1" RELATED [DOID:0070031] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in MBD5" EXACT [MONDO:design_pattern] synonym: "chromosome 2Q23.1 deletion syndrome" RELATED [OMIM:156200] +synonym: "MBD5 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:156200] synonym: "mental retardation, autosomal dominant 1; MRD1" RELATED [OMIM:156200] synonym: "mental retardation, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:156200] @@ -143213,7 +144581,7 @@ xref: OMIM:156550 {source="Orphanet:485", source="ORDO:485/e", source="MONDO:equ xref: Orphanet:485 {source="OMIM:156550", source="MONDO:equivalentTo"} xref: SCTID:53974002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0265279 {source="NCBI:mim2gene_medline", source="Orphanet:485", source="OMIM:156550", source="ORDO:485/e", source="MONDO:equivalentTo", source="NCIT:C125594"} -is_a: MONDO:0005516 {source="DOID:0080045", source="MESH:C537207", source="linkedlifedata"} ! osteochondrodysplasia +is_a: MONDO:0005516 {source="DOID:0080045", source="MESH:C537207", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0015318 {source="Orphanet:485"} ! Pierre Robin syndrome associated with collagen disease is_a: MONDO:0016761 {source="Orphanet:485"} ! spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia is_a: MONDO:0019686 {source="Orphanet:485"} ! type 2 collagen-related bone disorder @@ -143437,15 +144805,17 @@ name: holoprosencephaly 2 def: "A rare disorder characterized by the partial separation of the cerebral hemispheres. It is associated with mutations in the SIX3 gene." [NCIT:C74995] synonym: "holoprosencephaly 2" EXACT [MONDO:Lexical, OMIM:157170] synonym: "holoprosencephaly 2; HPE2" RELATED [OMIM:157170] +synonym: "holoprosencephaly caused by mutation in SIX3" EXACT [MONDO:design_pattern] synonym: "holoprosencephaly type 2" EXACT [DOID:0110872, MONDORULE:1, OMIM:157170] synonym: "HPE2" EXACT [DOID:0110872, MONDO:Lexical, OMIM:157170] +synonym: "SIX3 holoprosencephaly" EXACT [MONDO:design_pattern] xref: DOID:0110872 {source="MONDO:equivalentTo"} xref: MESH:C563579 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C74995 {source="MONDO:kboom-pr-1.00/0.91/28.16", source="MONDO:equivalentTo"} xref: OMIM:157170 {source="DOID:0110872", source="MONDO:equivalentTo"} xref: Orphanet:2162 {source="OMIM:157170", source="MONDO:subClassOf"} xref: UMLS:C1834877 {source="NCBI:mim2gene_medline", source="NCIT:C74995", source="OMIM:157170", source="MONDO:equivalentTo"} -is_a: MONDO:0016296 {source="MESH:C563579", source="NCIT:C74995", source="OMIM:157170", source="ORDO:2162/btnt"} ! holoprosencephaly +is_a: MONDO:0016296 {source="DOID:0110872", source="MESH:C563579", source="NCIT:C74995", source="OMIM:157170", source="ORDO:2162/btnt"} ! holoprosencephaly intersection_of: MONDO:0016296 ! holoprosencephaly intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10889 ! SIX3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10889 {source="mim2gene_medgen"} ! SIX3 @@ -143489,6 +144859,8 @@ id: MONDO:0008002 name: mirror movements 1 def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DCC gene." [MONDO:patterns/disease_series_by_gene] synonym: "bimanual synergia" RELATED [OMIM:157600] +synonym: "DCC familial congenital mirror movements" EXACT [MONDO:design_pattern] +synonym: "familial congenital mirror movements caused by mutation in DCC" EXACT [MONDO:design_pattern] synonym: "mirror movements 1" EXACT [MONDO:Lexical, OMIM:157600] synonym: "mirror movements 1 and/Or agenesis of the corpus callosum" RELATED [OMIM:157600] synonym: "mirror movements 1; MRMV1" RELATED [OMIM:157600] @@ -143549,7 +144921,7 @@ xref: UMLS:C0026267 {source="OMIM:157700"} xref: UMLS:C0340364 {source="Orphanet:741", source="ORDO:741/e"} xref: UMLS:C1834819 {source="OMIM:157700"} xref: UMLS:C2931504 {source="OMIM:157700"} -is_a: MONDO:0004910 {source="DC-OMIM:157700", source="MONDO:Entailed", source="OMIM:157700", source="linkedlifedata"} ! mitral valve prolapse (disease) +is_a: MONDO:0004910 {source="DC-OMIM:157700", source="MONDO:Entailed", source="OMIM:157700", source="linkedlifedata", source="linkedlifedata/inferred"} ! mitral valve prolapse (disease) is_a: MONDO:0017131 {source="Orphanet:741"} ! genetic cardiac anomaly is_a: MONDO:0019817 {source="Orphanet:741"} ! congenital mitral valve insufficiency and/or stenosis intersection_of: MONDO:0004910 ! mitral valve prolapse (disease) @@ -143577,7 +144949,7 @@ xref: Orphanet:3238 {source="MONDO:equivalentTo", source="OMIM:157800"} xref: SCTID:720612000 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C1834818 {source="NCBI:mim2gene_medline", source="Orphanet:3238", source="OMIM:157800"} xref: UMLS:C2931461 {source="Orphanet:3238"} -is_a: MONDO:0003847 {source="Orphanet:3238/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="Orphanet:3238/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0019589 {source="Orphanet:3238"} ! syndromic genetic deafness relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6859 {source="mim2gene_medgen"} ! MAP3K7 property_value: confidence "9.0" xsd:double @@ -143654,7 +145026,7 @@ xref: Orphanet:1077 {source="MONDO:equivalentTo"} xref: SCTID:14901003 {source="EFO:1001215", source="DOID:12661", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155930 {source="NCBI:mim2gene_medline", source="OMIM:157950", source="ORDO:1077/e", source="MEDGEN:kboom-pr98-c99", source="DOID:12661", source="MONDO:equivalentTo", source="Orphanet:1077"} xref: UMLS:C2931182 {source="OMIM:157950", source="Orphanet:1077"} -is_a: MONDO:0002220 {source="DOID:12661"} ! teeth hard tissue disease +is_a: MONDO:0002220 {source="DOID:12661"} ! tooth hard tissue disease is_a: MONDO:0002257 {source="DOID:12661", source="MONDO:Entailed"} ! ankylosis (disease) is_a: MONDO:0003847 {source="Orphanet:1077/inferred"} ! inherited genetic disease is_a: MONDO:0015603 {source="Orphanet:1077"} ! rare odontal or periodontal disorder @@ -143928,6 +145300,7 @@ name: Cowden syndrome 1 def: "Any Cowden disease in which the cause of the disease is a mutation in the PTEN gene." [MONDO:patterns/disease_series_by_gene] synonym: "cerebellar granule cell Hypertrophy and megalencephaly" RELATED [OMIM:158350] synonym: "cerebelloparenchymal disorder 6" RELATED [OMIM:158350] +synonym: "Cowden disease caused by mutation in PTEN" EXACT [MONDO:design_pattern] synonym: "Cowden syndrome 1" EXACT [MONDO:Lexical, OMIM:158350] synonym: "Cowden syndrome 1; CWS1" RELATED [OMIM:158350] synonym: "Cowden syndrome type 1" EXACT [MONDORULE:1, OMIM:158350] @@ -143937,6 +145310,7 @@ synonym: "dysplastic gangliocytoma of the cerebellum" RELATED [OMIM:158350] synonym: "Lhermitte-Duclos disease" RELATED [OMIM:158350] synonym: "multiple hamartoma syndrome" RELATED [OMIM:158350] synonym: "Proteus-Like syndrome" RELATED [OMIM:158350] +synonym: "PTEN Cowden disease" EXACT [MONDO:design_pattern] xref: OMIM:158350 {source="MONDO:equivalentTo"} xref: Orphanet:201 {source="OMIM:158350", source="MONDO:subClassOf"} xref: Orphanet:2969 {source="OMIM:158350", source="MONDO:relatedTo", source="MONDO:superClassOf"} @@ -143993,9 +145367,11 @@ synonym: "Dhmnvp" RELATED [OMIM:158580] synonym: "Harper-Young Myopathy" RELATED [OMIM:158580] synonym: "HMN 7A" RELATED [OMIM:158580] synonym: "HMN7A" RELATED [MONDO:Lexical, OMIM:158580] +synonym: "neuronopathy, distal hereditary motor caused by mutation in SLC5A7" EXACT [MONDO:design_pattern] synonym: "neuronopathy, distal hereditary motor, type VIIA" RELATED [MONDO:Lexical, OMIM:158580] synonym: "neuronopathy, distal hereditary motor, type VIIA; HMN7A" RELATED [OMIM:158580] synonym: "neuropathy, distal hereditary motor, type 7A" RELATED [OMIM:158580] +synonym: "SLC5A7 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern] synonym: "spinal muscular atrophy, distal, with vocal cord paralysis" RELATED [OMIM:158580] xref: MESH:C563562 {source="MONDO:equivalentTo"} xref: OMIM:158580 {source="MONDO:equivalentTo"} @@ -144003,7 +145379,7 @@ xref: Orphanet:139589 {source="MONDO:subClassOf", source="OMIM:158580"} xref: UMLS:C1834703 {source="NCBI:mim2gene_medline", source="OMIM:158580", source="MONDO:equivalentTo"} is_a: MONDO:0000075 {source="DC-OMIM:158580"} ! neuronopathy, distal hereditary motor is_a: MONDO:0015355 {source="ORDO:139589/btnt"} ! distal hereditary motor neuropathy type 7 -is_a: MONDO:0024237 {source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder +is_a: MONDO:0024237 {source="MESH:C563562/inferred", source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder intersection_of: MONDO:0000075 ! neuronopathy, distal hereditary motor intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14025 ! SLC5A7 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14025 {source="mim2gene_medgen"} ! SLC5A7 @@ -144016,6 +145392,8 @@ def: "Any neuronopathy, distal hereditary motor in which the cause of the diseas synonym: "Charcot-Marie-Tooth disease, spinal, 2A" RELATED [OMIM:158590] synonym: "HMN 2A" RELATED [OMIM:158590] synonym: "HMN2A" RELATED [MONDO:Lexical, OMIM:158590] +synonym: "HSPB8 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern] +synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB8" EXACT [MONDO:design_pattern] synonym: "neuronopathy, distal hereditary motor, type IIA" RELATED [MONDO:Lexical, OMIM:158590] synonym: "neuronopathy, distal hereditary motor, type IIA; HMN2A" RELATED [OMIM:158590] synonym: "neuropathy, distal hereditary motor, type 2A" RELATED [OMIM:158590] @@ -144026,7 +145404,7 @@ xref: Orphanet:139525 {source="OMIM:158590", source="MONDO:subClassOf"} xref: UMLS:C1834692 {source="NCBI:mim2gene_medline", source="OMIM:158590", source="MONDO:equivalentTo"} is_a: MONDO:0000075 {source="DC-OMIM:158590"} ! neuronopathy, distal hereditary motor is_a: MONDO:0015352 {source="ORDO:139525/btnt"} ! distal hereditary motor neuropathy type 2 -is_a: MONDO:0024237 {source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder +is_a: MONDO:0024237 {source="MESH:C563561/inferred", source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder intersection_of: MONDO:0000075 ! neuronopathy, distal hereditary motor intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30171 ! HSPB8 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30171 {source="mim2gene_medgen"} ! HSPB8 @@ -144052,7 +145430,7 @@ xref: Orphanet:363447 {source="MONDO:subClassOf", source="OMIM:158600"} xref: UMLS:C1834690 {source="NCBI:mim2gene_medline", source="Orphanet:209341", source="MEDGEN:kboom-pr98-c99", source="OMIM:158600", source="MONDO:equivalentTo"} is_a: MONDO:0001516 {source="DC-OMIM:158600", source="MESH:C563560/inferred"} ! spinal muscular atrophy is_a: MONDO:0018190 {source="MONDOLEX:0008026", source="OMIM:158600", source="Orphanet:209341"} ! autosomal dominant childhood-onset proximal spinal muscular atrophy -is_a: MONDO:0024237 {source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder +is_a: MONDO:0024237 {source="MESH:C563560/inferred", source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2961 {source="mim2gene_medgen"} ! DYNC1H1 property_value: confidence "5.199999999999998" xsd:double @@ -144098,11 +145476,11 @@ xref: Orphanet:610 {source="OMIM:158810", source="MONDO:equivalentTo"} xref: SCTID:718572004 {source="MONDO:kboom-pr-1.00/0.80/9.28", source="MONDO:equivalentTo"} xref: UMLS:C1834674 {source="NCIT:C126688", source="ORDO:610/e", source="OMIM:158810", source="MONDO:equivalentTo", source="Orphanet:610"} is_a: MONDO:0005307 {source="MESH:C535436"} ! contracture -is_a: MONDO:0005336 {source="MONDO:Redundant", source="NCIT:C126688", source="linkedlifedata"} ! myopathy +is_a: MONDO:0005336 {source="DOID:0050663/inferred", source="MONDO:Redundant", source="NCIT:C126688", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopathy is_a: MONDO:0016106 {source="Orphanet:610"} ! progressive muscular dystrophy is_a: MONDO:0016148 {source="Orphanet:610"} ! qualitative or quantitative defects of collagen 6 is_a: MONDO:0019950 {source="DOID:0050663", source="MONDOLEX:0008029", source="Orphanet:610"} ! congenital muscular dystrophy -is_a: MONDO:0020121 {source="MESH:C535436", source="MONDO:Redundant", source="Orphanet:610/inferred", source="linkedlife/inferred"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:0050663/inferred", source="MESH:C535436", source="MONDO:Redundant", source="Orphanet:610/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! muscular dystrophy property_value: confidence "2.4105263157894736" xsd:double [Term] @@ -144116,9 +145494,11 @@ synonym: "facioscapulohumeral muscular dystrophy" RELATED [MESH:C536391, OMIM:15 synonym: "facioscapulohumeral muscular dystrophy 1" EXACT [MESH:C536391, MONDO:Lexical, OMIM:158900] synonym: "facioscapulohumeral muscular dystrophy 1; FSHD1" RELATED [OMIM:158900] synonym: "facioscapulohumeral muscular dystrophy 1A" RELATED [GARD:0009941] +synonym: "facioscapulohumeral muscular dystrophy caused by mutation in FRG1" EXACT [MONDO:design_pattern] synonym: "facioscapulohumeral muscular dystrophy type 1" EXACT [MONDORULE:1, OMIM:158900] synonym: "facioscapulohumeral muscular dystrophy, infantile" RELATED [MESH:C536391, OMIM:158900] synonym: "FMD" RELATED [MESH:C536391] +synonym: "FRG1 facioscapulohumeral muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "FSHD" RELATED [GARD:0009941, MESH:C536391] synonym: "FSHD1" RELATED [MESH:C536391, MONDO:Lexical, OMIM:158900] synonym: "FSHD1A" RELATED [GARD:0009941, MESH:C536391] @@ -144150,11 +145530,13 @@ def: "Any facioscapulohumeral muscular dystrophy in which the cause of the disea synonym: "facioscapulohumeral muscular dystrophy 2" EXACT [MONDO:Lexical, OMIM:158901] synonym: "facioscapulohumeral muscular dystrophy 2, digenic" RELATED [OMIM:158901] synonym: "facioscapulohumeral muscular dystrophy 2; FSHD2" RELATED [OMIM:158901] +synonym: "facioscapulohumeral muscular dystrophy caused by mutation in SMCHD1" EXACT [MONDO:design_pattern] synonym: "facioscapulohumeral muscular dystrophy type 2" EXACT [MONDORULE:1, OMIM:158901] synonym: "FSHD2" RELATED [MONDO:Lexical, OMIM:158901] synonym: "Fshd2, digenic" RELATED [OMIM:158901] synonym: "muscular dystrophy, facioscapulohumeral, type 1B" RELATED [OMIM:158901] synonym: "muscular dystrophy, facioscapulohumeral, type 2" RELATED [OMIM:158901] +synonym: "SMCHD1 facioscapulohumeral muscular dystrophy" EXACT [MONDO:design_pattern] xref: MESH:C563557 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:158901 {source="MONDO:equivalentTo"} xref: Orphanet:269 {source="OMIM:158901", source="MONDO:subClassOf"} @@ -144171,6 +145553,7 @@ name: autosomal dominant limb-girdle muscular dystrophy type 1A def: "Autosomal dominant limb-girdle muscular dystrophy type 1A (LGMD1A) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by an adult onset of proximal shoulder and hip girdle weakness (that later progresses to include distal weakness), nasal speech and dysarthria. Other frequent findings include tightened heel cords, reduced deep-tendon reflexes and elevated creatine kinase serum levels. Respiratory failure, as well as mild facial weakness and dysphagia, may also be observed." [Orphanet:266] subset: gard_rare subset: ordo_disease {source="Orphanet:266"} +synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in MYOT" EXACT [MONDO:design_pattern] synonym: "LGMD1" RELATED [GARD:0010229, OMIM:159000] synonym: "LGMD1A" EXACT [DOID:0110300, GARD:0010229, MONDO:Lexical, OMIM:159000, Orphanet:266] synonym: "limb-girdle muscular dystrophy due to myotilin deficiency" EXACT [DOID:0110300, Orphanet:266] @@ -144179,6 +145562,7 @@ synonym: "muscular dystrophy limb-girdle type 1A" EXACT [DOID:0110300] synonym: "muscular dystrophy, limb-girdle, type 1A" RELATED [MONDO:Lexical, OMIM:159000] synonym: "muscular dystrophy, limb-girdle, type 1A; LGMD1A" RELATED [OMIM:159000] synonym: "muscular dystrophy, proximal, type 1A" RELATED [GARD:0010229, OMIM:159000] +synonym: "MYOT autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "proximal muscular dystrophy type 1A" EXACT [DOID:0110300] xref: DOID:0110300 {source="MONDO:equivalentTo"} xref: GARD:0010229 {source="MONDO:equivalentTo"} @@ -144201,9 +145585,11 @@ name: autosomal dominant limb-girdle muscular dystrophy type 1B def: "Autosomal dominant limb-girdle muscular dystrophy type 1B (LGMD1B) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a variable age of onset of progressive shoulder and hip girdle weakness, with inferior limbs usually being affected prior to upper limbs, and mild joint contractures. LGMD1B is also associated with cardiac dysrhythmias, including atrioventricular conduction blocks, and late-onset dilated cardiomyopathy, that may lead to sudden death." [Orphanet:264] subset: gard_rare subset: ordo_disease {source="Orphanet:264"} +synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern] synonym: "LGMD1B" EXACT [DOID:0110301, GARD:0010230, MONDO:Lexical, OMIM:159001, Orphanet:264] synonym: "limb-girdle muscular dystrophy due to lamin A/C deficiency" EXACT [DOID:0110301, Orphanet:264] synonym: "limb-girdle muscular dystrophy type 1B" RELATED [GARD:0010230] +synonym: "LMNA autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "muscular dystrophy, limb-girdle type 1B" EXACT [DOID:0110301] synonym: "muscular dystrophy, limb-girdle, type 1B" RELATED [MONDO:Lexical, OMIM:159001] synonym: "muscular dystrophy, limb-girdle, type 1B; LGMD1B" RELATED [OMIM:159001] @@ -144321,7 +145707,7 @@ xref: SCTID:714279000 {source="MONDO:kboom-pr-1.00/0.80/9.03", source="DOID:321" xref: UMLS:C0030481 {source="NCBI:mim2gene_medline", source="ORDO:289326/e", source="Orphanet:289326", source="DOID:321", source="OMIM:159580", source="MONDO:equivalentTo"} is_a: MONDO:0015576 {source="MONDO:Entailed", source="Orphanet:289326"} ! rare viral disease is_a: MONDO:0019117 {source="OWLReasoner:2017"} ! genetic nervous system disorder -is_a: MONDO:0020010 {source="MONDO:Entailed", source="Orphanet:289326", source="linkedlifedata"} ! infectious disease of the nervous system +is_a: MONDO:0020010 {source="MONDO:Entailed", source="Orphanet:289326", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease of the nervous system relationship: disease_has_feature HP:0001324 ! Muscle weakness relationship: disease_has_feature HP:0003552 ! Muscle stiffness relationship: realized_in_response_to_stimulus NCBITaxon:11908 ! Human T-lymphotropic virus 1 @@ -144430,7 +145816,7 @@ xref: OMIM:159900 {source="DOID:0090034", source="Orphanet:36899", source="MONDO xref: OMIM:616398 {source="Orphanet:36899", source="MONDO:directSiblingOf", source="MONDO:superClassOf"} xref: UMLS:C1834570 {source="Orphanet:36899", source="NCBI:mim2gene_medline", source="MONDO:subClassOf", source="OMIM:159900"} is_a: MONDO:0000903 {source="DOID:0090034"} ! myoclonus-dystonia syndrome -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:159900"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090034/inferred", source="MONDO:Redundant", source="OMIM:159900"} ! dystonic disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10808 {source="mim2gene_medgen"} ! SGCE relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3023 {source="mim2gene_medgen"} ! DRD2 property_value: confidence "0.14285714285714324" xsd:double @@ -144493,7 +145879,9 @@ synonym: "EA1" RELATED [MONDO:Lexical, OMIM:160120] synonym: "episodic ataxia with myokymia" EXACT [OMIM:160120, Orphanet:37612] synonym: "episodic ataxia, type 1" RELATED [MONDO:Lexical, OMIM:160120] synonym: "episodic ataxia, type 1; EA1" RELATED [OMIM:160120] +synonym: "hereditary episodic ataxia caused by mutation in KCNA1" EXACT [MONDO:design_pattern] synonym: "Isaacs-Mertens syndrome" RELATED [OMIM:160120] +synonym: "KCNA1 hereditary episodic ataxia" EXACT [MONDO:design_pattern] synonym: "myokymia 1" RELATED [OMIM:160120] synonym: "myokymia 1 with or without hypomagnesemia" RELATED [OMIM:160120] synonym: "myokymia with periodic ataxia" RELATED [OMIM:160120] @@ -144509,7 +145897,7 @@ xref: UMLS:C1719788 {source="NCBI:mim2gene_medline", source="OMIM:160120", sourc xref: UMLS:C1834559 {source="OMIM:160120", source="MONDO:relatedTo"} xref: UMLS:C2674766 {source="OMIM:160120"} xref: UMLS:CN042654 {source="MONDO:equivalentTo"} -is_a: MONDO:0016227 {source="OMIM:160120", source="Orphanet:37612", source="linkedlifedata"} ! hereditary episodic ataxia +is_a: MONDO:0016227 {source="DOID:0050989", source="OMIM:160120", source="Orphanet:37612", source="linkedlifedata"} ! hereditary episodic ataxia is_a: MONDO:0020127 ! genetic peripheral neuropathy intersection_of: MONDO:0016227 ! hereditary episodic ataxia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6218 ! KCNA1 @@ -144542,7 +145930,7 @@ xref: Orphanet:169189 {source="OMIM:160150", source="MONDO:equivalentTo"} xref: SCTID:716696006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1834558 {source="NCBI:mim2gene_medline", source="OMIM:160150", source="MONDO:equivalentTo", source="Orphanet:169189"} is_a: MONDO:0000426 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease -is_a: MONDO:0002921 {source="NCIT:C126689"} ! congenital structural myopathy +is_a: MONDO:0002921 {source="NCIT:C126689", source="OMIM:160150"} ! congenital structural myopathy is_a: MONDO:0018947 {source="DC-OMIM:160150", source="MONDO:Entailed", source="OMIM:160150", source="Orphanet:169189", source="linkedlifedata"} ! centronuclear myopathy intersection_of: MONDO:0018947 ! centronuclear myopathy intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance @@ -144626,7 +146014,7 @@ synonym: "MYP2" EXACT [MONDO:Lexical, OMIM:160700] xref: MESH:C563541 {source="MONDO:equivalentTo"} xref: OMIM:160700 {source="MONDO:equivalentTo"} xref: UMLS:C1834531 {source="NCBI:mim2gene_medline", source="OMIM:160700", source="MONDO:equivalentTo"} -is_a: MONDO:0001384 {source="DC-OMIM:160700", source="OMIM:160700"} ! myopia (disease) +is_a: MONDO:0001384 {source="DC-OMIM:160700", source="MESH:C563541", source="OMIM:160700"} ! myopia (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -144692,6 +146080,7 @@ subset: ordo_disease {source="Orphanet:273"} synonym: "congenital myotonic dystrophy" EXACT [DOID:11722] synonym: "DM1" EXACT [Orphanet:273] synonym: "DM1" RELATED [MONDO:Lexical, OMIM:160900] +synonym: "DMPK myotonic dystrophy" EXACT [MONDO:design_pattern] synonym: "dystrophia myotonica" EXACT [DOID:11722, SCTID:267713009] synonym: "dystrophia myotonica" RELATED [OMIM:160900] synonym: "dystrophia myotonica 1" RELATED [OMIM:160900] @@ -144699,6 +146088,7 @@ synonym: "dystrophia myotonica type 1" RELATED [GARD:0008310] synonym: "MD1" EXACT [Orphanet:273] synonym: "myotonic dystrophy 1" RELATED [MONDO:Lexical, OMIM:160900] synonym: "myotonic dystrophy 1; DM1" RELATED [OMIM:160900] +synonym: "myotonic dystrophy caused by mutation in DMPK" EXACT [MONDO:design_pattern] synonym: "myotonic dystrophy of Steinert" EXACT [DOID:11722] synonym: "myotonic dystrophy type 1" EXACT [MONDORULE:1, OMIM:160900, Orphanet:273] synonym: "Steinert disease" EXACT [DOID:11722, OMIM:160900, Orphanet:273] @@ -144721,7 +146111,7 @@ xref: SCTID:77956009 {source="DOID:11722"} xref: UMLS:C0027126 {source="DOID:11722", source="NCBI:mim2gene_medline", source="MONDO:subClassOf", source="OMIM:160900"} xref: UMLS:C2931688 {source="ORDO:273/e", source="Orphanet:273", source="OMIM:160900"} is_a: MONDO:0015906 {source="Orphanet:273"} ! rare disorder with hypergonadotropic hypogonadism -is_a: MONDO:0016107 {source="DC-OMIM:160900", source="OMIM:160900", source="Orphanet:273"} ! myotonic dystrophy +is_a: MONDO:0016107 {source="DC-OMIM:160900", source="DOID:11722", source="NCIT:C84679", source="OMIM:160900", source="Orphanet:273"} ! myotonic dystrophy is_a: MONDO:0016329 {source="Orphanet:273"} ! familial syndrome associated with hypertrophic cardiomyopathy is_a: MONDO:0020016 {source="Orphanet:273"} ! rare neurologic disease with psychiatric involvement is_a: MONDO:0020169 {source="Orphanet:273"} ! rare disorder with ptosis @@ -144736,6 +146126,7 @@ property_value: confidence "12.055555555555554" xsd:double id: MONDO:0008057 name: Carney complex, type 1 def: "Any Carney complex in which the cause of the disease is a mutation in the PRKAR1A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Carney complex caused by mutation in PRKAR1A" EXACT [MONDO:design_pattern] synonym: "Carney complex, type 1" EXACT [MONDO:Lexical, OMIM:160980] synonym: "CARNEY complex, type 1; CNC1" RELATED [OMIM:160980] synonym: "Carney Myxoma-endocrine Complex" RELATED [OMIM:160980] @@ -144744,6 +146135,7 @@ synonym: "CNC1" RELATED [MONDO:Lexical, OMIM:160980] synonym: "lamb syndrome" RELATED [OMIM:160980] synonym: "Myxoma, spotty pigmentation, and endocrine overactivity" RELATED [OMIM:160980] synonym: "name syndrome" RELATED [OMIM:160980] +synonym: "PRKAR1A Carney complex" EXACT [MONDO:design_pattern] xref: OMIM:160980 {source="MONDO:equivalentTo"} xref: Orphanet:1359 {source="OMIM:160980", source="MONDO:subClassOf"} xref: UMLS:C2607929 {source="NCBI:mim2gene_medline", source="OMIM:160980"} @@ -144791,7 +146183,7 @@ xref: Orphanet:69087 {source="OMIM:161000", source="MONDO:equivalentTo"} xref: SCTID:239084001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0343111 {source="NCBI:mim2gene_medline", source="OMIM:161000", source="Orphanet:69087", source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="MESH:C538331", source="Orphanet:69087"} ! ectodermal dysplasia syndrome -is_a: MONDO:0019289 {source="Orphanet:69087", source="linkedlifedata"} ! hyperpigmentation of the skin +is_a: MONDO:0019289 {source="Orphanet:69087", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin is_a: MONDO:0020094 {source="Orphanet:69087"} ! autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6416 {source="mim2gene_medgen"} ! KRT14 property_value: confidence "3.7222222222222223" xsd:double @@ -144878,8 +146270,10 @@ id: MONDO:0008062 name: narcolepsy 1 def: "A rare disorder characterized by sudden and transient episodes of loss of muscle tone. It often follows an experience of intense emotions. It is seen in patients with narcolepsy." [NCIT:C84618] synonym: "cataplexy" RELATED [OMIM:161400] +synonym: "HCRT narcolepsy" EXACT [MONDO:design_pattern] synonym: "narcolepsy 1" EXACT [MONDO:Lexical, OMIM:161400] synonym: "narcolepsy 1; NRCLP1" RELATED [OMIM:161400] +synonym: "narcolepsy caused by mutation in HCRT" EXACT [MONDO:design_pattern] synonym: "narcolepsy type 1" EXACT [MONDORULE:1, OMIM:161400] synonym: "narcoleptic syndrome 1" RELATED [OMIM:161400] synonym: "NRCLP1" RELATED [MONDO:Lexical, OMIM:161400] @@ -144972,6 +146366,7 @@ property_value: confidence "1.3333333333333335" xsd:double id: MONDO:0008070 name: nemaline myopathy 3 def: "An inherited myopathy caused by mutations in the ACTA1 gene, encoding actin, alpha skeletal muscle. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, typically involving proximal muscles, the face, bulbar and respiratory muscles." [NCIT:C129870] +synonym: "ACTA1 nemaline myopathy" EXACT [MONDO:design_pattern] synonym: "Myopathy, actin, congenital, with cores" RELATED [OMIM:161800] synonym: "Myopathy, actin, congenital, with Excess of thin Myofilaments" RELATED [OMIM:161800] synonym: "NEM3" EXACT [DOID:0110927, MONDO:Lexical, OMIM:161800] @@ -144979,6 +146374,7 @@ synonym: "nemaline myopathy 3" EXACT [MONDO:Lexical, OMIM:161800] synonym: "nemaline myopathy 3, autosomal dominant or recessive" EXACT [DOID:0110927] synonym: "nemaline Myopathy 3, with intranuclear rods" RELATED [OMIM:161800] synonym: "nemaline MYOPATHY 3; NEM3" RELATED [OMIM:161800] +synonym: "nemaline myopathy caused by mutation in ACTA1" EXACT [MONDO:design_pattern] synonym: "nemaline Myopathy type 3" EXACT [MONDORULE:1, OMIM:161800] synonym: "nemaline myopathy type 3" EXACT [DOID:0110927, MONDORULE:1] xref: DOID:0110927 {source="MONDO:equivalentTo"} @@ -144992,12 +146388,12 @@ xref: UMLS:C1834336 {source="NCBI:mim2gene_medline", source="OMIM:161800", sourc xref: UMLS:C1834339 {source="OMIM:161800"} xref: UMLS:C2750536 {source="OMIM:161800"} xref: UMLS:C2750537 {source="OMIM:161800"} -is_a: MONDO:0005336 {source="MONDO:Redundant", source="NCIT:C129870"} ! myopathy +is_a: MONDO:0005336 {source="DOID:0110927/inferred", source="MONDO:Redundant", source="NCIT:C129870"} ! myopathy is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy is_a: MONDO:0015736 {source="ORDO:171433/btnt"} ! intermediate nemaline myopathy is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy -is_a: MONDO:0018958 {source="MESH:C580202", source="MONDO:Redundant", source="OMIM:161800"} ! nemaline myopathy +is_a: MONDO:0018958 {source="DOID:0110927", source="MESH:C580202", source="MONDO:Redundant", source="OMIM:161800"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/129 ! ACTA1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/129 {source="mim2gene_medgen"} ! ACTA1 @@ -145050,6 +146446,7 @@ subset: ordo_disease {source="Orphanet:209886"} subset: prototype_pattern synonym: "familial juvenile gouty nephropathy" BROAD [Orphanet:209886] synonym: "familial juvenile hyperuricaemic nephropathy" RELATED [GARD:0006806] +synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in UMOD" EXACT [MONDO:design_pattern] synonym: "familial nephropathy with gout" BROAD [Orphanet:209886] synonym: "FJHN type 1" EXACT [Orphanet:209886] synonym: "gouty nephropathy, familial juvenile" BROAD [OMIM:162000] @@ -145060,6 +146457,7 @@ synonym: "hyperuricemic nephropathy, familial juvenile, 1" EXACT [MONDO:Lexical, synonym: "hyperuricemic nephropathy, familial juvenile, 1; HNFJ1" EXACT [OMIM:162000] synonym: "hyperuricemic Nephropathy, familial juvenile, type 1" EXACT [MONDORULE:1, OMIM:162000] synonym: "Nephropathy, familial, with gout" BROAD [OMIM:162000] +synonym: "UMOD familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern] synonym: "UMOD-associated familial juvenile hyperuricemic nephropathy" EXACT [Orphanet:209886] synonym: "UMOD-associated FJHN" EXACT [Orphanet:209886] synonym: "UMOD-related kidney disease" EXACT [GARD:0006806] @@ -145221,7 +146619,7 @@ synonym: "type IV neurofibromatosis of Riccardi" EXACT [] xref: MESH:C537392 {source="MONDO:equivalentTo"} xref: OMIM:162270 {source="MONDO:equivalentTo"} xref: UMLS:C0220695 {source="NCBI:mim2gene_medline", source="OMIM:162270"} -is_a: MONDO:0021061 {source="MONDO:cjm"} ! neurofibromatosis +is_a: MONDO:0021061 {source="MESH:C537392", source="MONDO:cjm"} ! neurofibromatosis [Term] id: MONDO:0008082 @@ -145307,7 +146705,7 @@ xref: Orphanet:228343 {source="DOID:0110720", source="OMIM:162350", source="MOND xref: Orphanet:79262 {source="OMIM:162350", source="MONDO:subClassOf"} xref: UMLS:C1834207 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr87-c94", source="OMIM:162350", source="NCIT:C128116", source="MONDO:equivalentTo"} xref: UMLS:C4284284 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0016295 {source="MONDO:Redundant", source="NCIT:C128116", source="OMIM:162350", source="Orphanet:228343/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID:0110720", source="MONDO:Redundant", source="NCIT:C128116", source="OMIM:162350", source="Orphanet:228343/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0019260 {source="MONDOLEX:0008083", source="Orphanet:228343"} ! adult neuronal ceroid lipofuscinosis property_value: confidence "0.625" xsd:double @@ -145338,6 +146736,7 @@ id: MONDO:0008086 name: neuropathy, hereditary sensory and autonomic, type 1A def: "An axonal form of hereditary motor and sensory neuropathy distinguished by prominent early sensory loss and later positive sensory phenomena, caused by mutations in SPTLC1." [https://www.ncbi.nlm.nih.gov/books/NBK1390] comment: Mechanism: The mutations alter amino acid selectivity of the serine palmitoyltransferase enzyme, leading to condensation of palmitate with alanine and glycine, in addition to serine, and resulting in the accumulation of two atypical neurotoxic deoxysphingoid bases (Penno et al. 2010). +synonym: "hereditary sensory and autonomic neuropathy type 1 caused by mutation in SPTLC1" EXACT [MONDO:design_pattern] synonym: "hereditary sensory and autonomic neuropathy type 1A" RELATED [DOID:0070152] synonym: "hereditary sensory and autonomic neuropathy type IA" EXACT [DOID:0070152] synonym: "HSAN 1A" RELATED [OMIM:162400] @@ -145347,11 +146746,12 @@ synonym: "neuropathy, hereditary sensory and autonomic, type IA" RELATED [MONDO: synonym: "neuropathy, hereditary sensory and autonomic, type IA; HSAN1A" RELATED [OMIM:162400] synonym: "neuropathy, hereditary sensory radicular, autosomal dominant, type 1A" RELATED [OMIM:162400] synonym: "neuropathy, hereditary sensory, type 1A" RELATED [OMIM:162400] +synonym: "SPTLC1 hereditary sensory and autonomic neuropathy type 1" EXACT [MONDO:design_pattern] xref: DOID:0070152 {source="MONDO:equivalentTo"} xref: OMIM:162400 {source="DOID:0070152", source="MONDO:equivalentTo"} xref: Orphanet:36386 {source="MONDO:subClassOf", source="OMIM:162400"} xref: UMLS:C0020071 {source="NCBI:mim2gene_medline", source="OMIM:162400"} -is_a: MONDO:0018213 {source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 +is_a: MONDO:0018213 {source="DOID:0070152", source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 intersection_of: MONDO:0018213 ! hereditary sensory and autonomic neuropathy type 1 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11277 ! SPTLC1 relationship: disease_has_basis_in_disruption_of GO:0004758 {source="PMID:21502308"} ! serine C-palmitoyltransferase activity @@ -145476,7 +146876,7 @@ xref: OMIM:162830 {source="Orphanet:279943", source="DOID:0090120", source="ORDO xref: Orphanet:279943 {source="DOID:0090120", source="MONDO:equivalentTo", source="OMIM:162830"} xref: SCTID:129639005 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0543669 {source="Orphanet:279943", source="NCBI:mim2gene_medline", source="DOID:0090120", source="ORDO:279943/e", source="MONDO:equivalentTo", source="OMIM:162830"} -is_a: MONDO:0004805 {source="DOID:0090120", source="MESH:C563010"} ! leukocyte disease +is_a: MONDO:0004805 {source="DOID:0090120", source="MESH:C563010", source="linkedlifedata/inferred"} ! leukocyte disease is_a: MONDO:0015984 {source="MONDO:Entailed", source="Orphanet:279943"} ! rare genetic immune disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2439 {source="mim2gene_medgen"} ! CSF3R property_value: confidence "28.513888888888893" xsd:double @@ -145502,7 +146902,7 @@ xref: UMLS:C0334082 {source="NCBI:mim2gene_medline", source="NCIT:C4088"} xref: UMLS:C3665593 {source="OMIM:162900"} is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0005073 {source="MESH:C580062"} ! melanocytic nevus -is_a: MONDO:0005093 {source="DOID:0111162"} ! skin disease +is_a: MONDO:0005093 {source="DOID:0111162", source="NCIT:C4088/inferred"} ! skin disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3690 {source="mim2gene_medgen"} ! FGFR3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5173 {source="mim2gene_medgen"} ! HRAS relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7989 {source="mim2gene_medgen"} ! NRAS @@ -145544,9 +146944,9 @@ xref: UMLS:C0340803 {source="NCBI:mim2gene_medline", source="OMIM:163000"} xref: UMLS:C2931029 {source="OMIM:163000", source="Orphanet:624"} xref: UMLS:CN205384 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0015948 {source="Orphanet:624"} ! rare genetic skin vascular disorder -is_a: MONDO:0016231 {source="Orphanet:624", source="linkedlifedata"} ! capillary malformation +is_a: MONDO:0016231 {source="Orphanet:624", source="linkedlifedata", source="linkedlifedata/inferred"} ! capillary malformation is_a: MONDO:0018728 {source="Orphanet:624"} ! rare genetic capillary malformation -is_a: MONDO:0019293 {source="Orphanet:624"} ! skin vascular disease +is_a: MONDO:0019293 {source="Orphanet:624", source="linkedlifedata/inferred"} ! skin vascular disease is_a: MONDO:0021658 {source="NCIT:C3840"} ! vascular ectasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4390 {source="mim2gene_medgen"} ! GNAQ property_value: confidence "7.0" xsd:double @@ -145649,11 +147049,13 @@ id: MONDO:0008099 name: congenital stationary night blindness autosomal dominant 2 def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the PDE6B gene." [MONDO:patterns/disease_series_by_gene] synonym: "congenital stationary night blindness autosomal dominant type 2" EXACT [DOID:0110863, MONDORULE:1] +synonym: "congenital stationary night blindness caused by mutation in PDE6B" EXACT [MONDO:design_pattern] synonym: "CSNBAD2" EXACT [DOID:0110863, MONDO:Lexical, OMIM:163500] synonym: "night blindness, congenital stationary, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:163500] synonym: "night blindness, congenital stationary, autosomal dominant 2; CSNBAD2" RELATED [OMIM:163500] synonym: "night blindness, congenital stationary, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:163500] synonym: "night blindness, congenital stationary, Rambusch type" RELATED [OMIM:163500] +synonym: "PDE6B congenital stationary night blindness" EXACT [MONDO:design_pattern] synonym: "Rambusch type congenital stationary night blindness" EXACT [DOID:0110863] xref: DOID:0110863 {source="MONDO:equivalentTo"} xref: MESH:C566869 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -145698,11 +147100,13 @@ id: MONDO:0008102 name: sick sinus syndrome 2, autosomal dominant def: "Any sick sinus syndrome in which the cause of the disease is a mutation in the HCN4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "atrial fibrillation with Bradyarrhythmia" RELATED [OMIM:163800] +synonym: "HCN4 sick sinus syndrome" EXACT [MONDO:design_pattern] synonym: "sick sinus syndrome 2" RELATED [OMIM:163800] synonym: "sick sinus syndrome 2 with or without Cardiac noncompaction and/Or ascending aorta dilation" RELATED [OMIM:163800] synonym: "sick sinus syndrome 2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:163800] synonym: "sick sinus syndrome 2, autosomal dominant; SSS2" RELATED [OMIM:163800] synonym: "sick sinus syndrome 2; SSS2" RELATED [OMIM:163800] +synonym: "sick sinus syndrome caused by mutation in HCN4" EXACT [MONDO:design_pattern] synonym: "sinus bradycardia syndrome, familial, autosomal dominant" RELATED [OMIM:163800] synonym: "sinus node disease, familial, autosomal dominant" RELATED [OMIM:163800] synonym: "Sss, autosomal dominant" RELATED [OMIM:163800] @@ -145871,8 +147275,8 @@ synonym: "oculo-dento-digital syndrome" RELATED [GARD:0007239] synonym: "oculodentodigital dysplasia" EXACT [MONDO:Lexical, OMIM:164200] synonym: "oculodentodigital dysplasia; ODDD" RELATED [OMIM:164200] synonym: "oculodentodigital syndrome" RELATED [GARD:0007239] -synonym: "Oculodentoosseous dysplasia" EXACT [Orphanet:2710] -synonym: "Oculodentoosseous dysplasia" RELATED [OMIM:164200] +synonym: "oculodentoosseous dysplasia" EXACT [Orphanet:2710] +synonym: "oculodentoosseous dysplasia" RELATED [OMIM:164200] synonym: "odd syndrome" EXACT [DOID:0060291, OMIM:164200] synonym: "ODDD" RELATED [MONDO:Lexical, OMIM:164200] synonym: "ODDD syndrome" EXACT [Orphanet:2710] @@ -145891,7 +147295,7 @@ xref: UMLS:C0812437 {source="DOID:0060291", source="NCBI:mim2gene_medline", sour is_a: MONDO:0002254 {source="DOID:0060291", source="MONDO:Redundant"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:2710"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015336 {source="Orphanet:2710"} ! malformation syndrome with odontal and/or periodontal component -is_a: MONDO:0019287 {source="Orphanet:2710", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="Orphanet:2710", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0019703 {source="Orphanet:2710"} ! primary bone dysplasia with increased bone density is_a: MONDO:0020277 {source="Orphanet:2710"} ! ectodermal malformation syndrome associated with ocular features is_a: MONDO:0043007 {source="Orphanet:2710"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome @@ -145924,9 +147328,10 @@ synonym: "OAV (oculoauriculovertebral) dysplasia" EXACT [CSP2005:0725-7823, DOID synonym: "OAV dysplasia" EXACT [Orphanet:374] synonym: "Oav dysplasia" RELATED [OMIM:164210] synonym: "OAVS" EXACT [Orphanet:374] -synonym: "Oculoauriculovertebral dysplasia" EXACT [OMIM:164210, Orphanet:374] -synonym: "Oculoauriculovertebral spectrum" RELATED [OMIM:164210] -synonym: "Oculoauriculovertebral syndrome" EXACT [Orphanet:374] +synonym: "oculoauriculovertebral dysplasia" EXACT [OMIM:164210, Orphanet:374] +synonym: "oculoauriculovertebral spectrum" RELATED [OMIM:164210] +synonym: "oculoauriculovertebral syndrome" EXACT [Orphanet:374] +synonym: "Otomandibular dysostosis" EXACT [DOID:2907] synonym: "otomandibular dysostosis (disorder)" EXACT [DOID:2907, SCTID:109393007] xref: DOID:2907 {source="MONDO:equivalentTo"} xref: GARD:0006540 {source="Orphanet-shared", source="MONDO:equivalentTo"} @@ -145946,7 +147351,7 @@ xref: SCTID:46567003 {source="DOID:2907"} xref: UMLS:C0265240 {source="NCBI:mim2gene_medline", source="DOID:2907", source="Orphanet:374", source="NCIT:C84740", source="OMIM:164210", source="ORDO:374/e", source="MONDO:equivalentTo"} xref: UMLS:C0432130 {source="Orphanet:374", source="ORDO:374/e"} xref: UMLS:C3495417 {source="OMIM:164210"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84740"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:2907", source="MONDO:Redundant", source="NCIT:C84740"} ! syndromic disease is_a: MONDO:0007712 ! oculoauriculovertebral spectrum with radial defects is_a: MONDO:0015161 {source="Orphanet:374"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015218 {source="Orphanet:374"} ! syndromic developmental defect of the eye @@ -146029,6 +147434,7 @@ synonym: "digital anomalies with short palpebral fissures and atresia of esophag synonym: "Feingold syndrome" RELATED [OMIM:164280] synonym: "Feingold syndrome 1" RELATED [MONDO:Lexical, OMIM:164280] synonym: "Feingold syndrome 1; FGLDS1" RELATED [OMIM:164280] +synonym: "Feingold syndrome caused by mutation in MYCN" EXACT [MONDO:design_pattern] synonym: "Feingold syndrome type 1" EXACT [MONDORULE:1, OMIM:164280] synonym: "FGLDS1" EXACT [MONDO:Lexical, OMIM:164280, Orphanet:391641] synonym: "FS1" EXACT [Orphanet:391641] @@ -146041,8 +147447,9 @@ synonym: "microcephaly-oculo-digito-esophageal-duodenal syndrome syndrome type 1 synonym: "Mmt syndrome" RELATED [OMIM:164280] synonym: "MMT type 1" EXACT [Orphanet:391641] synonym: "MODED syndrome type 1" EXACT [Orphanet:391641] +synonym: "MYCN Feingold syndrome" EXACT [MONDO:design_pattern] synonym: "oculo-digito-esophageal-duodenal syndrome type 1" EXACT [Orphanet:391641] -synonym: "Oculodigitoesophagoduodenal syndrome" RELATED [OMIM:164280] +synonym: "oculodigitoesophagoduodenal syndrome" RELATED [OMIM:164280] synonym: "Oded syndrome" RELATED [OMIM:164280] synonym: "ODED syndrome type 1" EXACT [Orphanet:391641] xref: ICD10:Q87.8 {source="ORDO:391641/ntbt", source="ORDO:391641/attributed", source="Orphanet:391641"} @@ -146083,7 +147490,7 @@ xref: UMLS:C0244252 {source="NCIT:C84942"} xref: UMLS:C0270952 {source="NCBI:mim2gene_medline", source="ORDO:270/e", source="DOID:11719", source="Orphanet:270", source="OMIM:164300", source="MONDO:equivalentTo"} is_a: MONDO:0004746 {source="DOID:11719", source="linkedlifedata"} ! myopathy of extraocular muscle is_a: MONDO:0016106 {source="Orphanet:270"} ! progressive muscular dystrophy -is_a: MONDO:0020121 {source="MESH:D039141", source="MONDO:Redundant", source="NCIT:C84942", source="Orphanet:270/inferred", source="linkedlifedata"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:11719", source="MESH:D039141", source="MONDO:Redundant", source="NCIT:C84942", source="Orphanet:270/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy is_a: MONDO:0020169 {source="Orphanet:270"} ! rare disorder with ptosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8565 {source="mim2gene_medgen"} ! PABPN1 property_value: confidence "4.277777777777779" xsd:double @@ -146091,14 +147498,14 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7245/oculopha [Term] id: MONDO:0008117 -name: Oculopharyngodistal myopathy +name: oculopharyngodistal myopathy def: "Oculopharyngodistal myopathy (OPDM) is a rare, adult-onset hereditary muscle disease. People with OPDM present with progressive eye and throat (pharyngeal) problems and involvement of the muscles of the lower legs and arms. Symptoms may include eyelid drooping (ptosis), swallowing difficulty, hoarse and nasal voice, leg and arm weakness, as well as muscle wasting in the face and in the legs and arms. Many people have respiratory problems due to respiratory muscle weakness. In rare cases, there is also hearing loss, as well as severe weakness in muscles of the forearms and thighs. As the disease progresses, other muscles may be affected. A blood exam may show an increased creatine kinase level and an abnormal EMG. Inheritance may be autosomal dominant or autosomal recessive. The specific cause is still unknown." [https://rarediseases.info.nih.gov/diseases/12592/oculopharyngodistal-myopathy] subset: gard_rare {source="GARD:0012592"} subset: ordo_disease {source="Orphanet:98897"} subset: ordo_inheritance_inconsistent synonym: "Faciooculolaryngopharyngeal Myopathy with distal and respiratory involvement" RELATED [OMIM:164310] synonym: "oculopharyngeal distal myopathy" EXACT [Orphanet:98897] -synonym: "Oculopharyngodistal myopathy" EXACT [MONDO:Lexical, OMIM:164310] +synonym: "oculopharyngodistal myopathy" EXACT [MONDO:Lexical, OMIM:164310] synonym: "OCULOPHARYNGODISTAL MYOPATHY; OPDM" RELATED [OMIM:164310] synonym: "OPDM" EXACT [MONDO:Lexical, OMIM:164310, Orphanet:98897] xref: GARD:0012592 {source="MONDO:equivalentTo"} @@ -146137,6 +147544,8 @@ id: MONDO:0008119 name: spinocerebellar ataxia type 1 def: "Spinocerebellar ataxia type 1 (SCA1) is a subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term) characterized by dysarthria, writing difficulties, limb ataxia, and commonly nystagmus and saccadic abnormalities." [Orphanet:98755] subset: ordo_disease {source="Orphanet:98755"} +synonym: "ATXN1 autosomal dominant cerebellar ataxia type I" EXACT [MONDO:design_pattern] +synonym: "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN1" EXACT [MONDO:design_pattern] synonym: "cerebelloparenchymal disorder 1" RELATED [OMIM:164400] synonym: "Menzel type OPCA" RELATED [OMIM:164400] synonym: "olivopontocerebellar atrophy 1" RELATED [OMIM:164400] @@ -146159,7 +147568,7 @@ xref: OMIM:164400 {source="Orphanet:98755", source="ORDO:98755/e", source="DOID: xref: Orphanet:98755 {source="OMIM:164400", source="MONDO:equivalentTo"} xref: SCTID:715748006 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0752120 {source="NCBI:mim2gene_medline", source="Orphanet:98755", source="OMIM:164400", source="ORDO:98755/e", source="NCIT:C129982", source="MONDO:equivalentTo"} -is_a: MONDO:0005559 {source="MONDO:Redundant", source="NCIT:C129982", source="Orphanet:98755/inferred", source="linkedlifedata"} ! neurodegenerative disease +is_a: MONDO:0005559 {source="DOID:0050954/inferred", source="MONDO:Redundant", source="NCIT:C129982", source="NCIT:C129982/inferred", source="Orphanet:98755/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease is_a: MONDO:0015548 {source="Orphanet:98755"} ! Huntington disease-like syndrome is_a: MONDO:0019792 {source="Orphanet:98755"} ! autosomal dominant cerebellar ataxia type I intersection_of: MONDO:0019792 ! autosomal dominant cerebellar ataxia type I @@ -146175,6 +147584,8 @@ subset: ordo_disease {source="Orphanet:94147"} synonym: "Adca, type 2" RELATED [OMIM:164500] synonym: "ADCA, type II" RELATED [GARD:0004955] synonym: "ataxia with pigmentary retinopathy" EXACT [Orphanet:94147] +synonym: "ATXN7 autosomal dominant cerebellar ataxia type II" EXACT [MONDO:design_pattern] +synonym: "autosomal dominant cerebellar ataxia type II caused by mutation in ATXN7" EXACT [MONDO:design_pattern] synonym: "autosomal dominant cerebellar ataxia, type 2" RELATED [OMIM:164500] synonym: "cerebellar syndrome-pigmentary maculopathy syndrome" EXACT [Orphanet:94147] synonym: "olivopontocerebellar atrophy 3" RELATED [OMIM:164500] @@ -146387,7 +147798,7 @@ xref: OMIM:165300 {source="Orphanet:67036", source="ORDO:67036/e", source="MONDO xref: Orphanet:67036 {source="OMIM:165300", source="MONDO:equivalentTo"} xref: SCTID:719517009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1833809 {source="Orphanet:67036", source="NCBI:mim2gene_medline", source="ORDO:67036/e", source="OMIM:165300", source="MONDO:equivalentTo"} -is_a: MONDO:0003608 {source="MESH:C537128/inferred", source="MONDO:Redundant", source="OMIM:165300", source="linkedlife/inferred"} ! optic atrophy +is_a: MONDO:0003608 {source="MESH:C537128/inferred", source="MONDO:Redundant", source="OMIM:165300", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic atrophy is_a: MONDO:0016799 {source="Orphanet:67036"} ! mitochondrial oxidative phosphorylation disorder with no known mechanism is_a: MONDO:0020250 {source="Orphanet:67036", source="linkedlifedata"} ! autosomal dominant optic atrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8142 {source="mim2gene_medgen"} ! OPA3 @@ -146418,7 +147829,7 @@ xref: Orphanet:98673 {source="OMIM:165500", source="MONDO:equivalentTo"} xref: SCTID:717336005 {source="MONDO:kboom-pr-1.00/0.80/8.67", source="MONDO:equivalentTo"} xref: UMLS:C0338508 {source="NCBI:mim2gene_medline", source="OMIM:165500", source="MONDO:subClassOf"} xref: UMLS:CN207069 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003608 {source="MONDO:Redundant", source="OMIM:165500", source="linkedlife/inferred"} ! optic atrophy +is_a: MONDO:0003608 {source="MONDO:Redundant", source="OMIM:165500", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic atrophy is_a: MONDO:0016799 {source="Orphanet:98673"} ! mitochondrial oxidative phosphorylation disorder with no known mechanism is_a: MONDO:0020250 {source="Orphanet:98673", source="linkedlifedata"} ! autosomal dominant optic atrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8140 {source="mim2gene_medgen"} ! OPA1 @@ -146580,8 +147991,10 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0008143 name: osteoarthritis susceptibility 1 def: "Any osteoarthritis in which the cause of the disease is a mutation in the FRZB gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FRZB osteoarthritis" EXACT [MONDO:design_pattern] synonym: "Oa" RELATED [OMIM:165720] synonym: "OS1" RELATED [MONDO:Lexical, OMIM:165720] +synonym: "osteoarthritis caused by mutation in FRZB" EXACT [MONDO:design_pattern] synonym: "osteoarthritis of hip, female-specific, susceptibility to" RELATED [OMIM:165720] synonym: "osteoarthritis susceptibility 1" EXACT [MONDO:Lexical, OMIM:165720] synonym: "osteoarthritis susceptibility 1; OS1" RELATED [OMIM:165720] @@ -146716,7 +148129,7 @@ xref: Orphanet:216804 {source="OMIM:166210", source="MONDO:equivalentTo"} xref: SCTID:86470003 {source="MONDO:kboom-pr-0.65/0.27/0.17", source="MONDO:equivalentTo"} xref: UMLS:C0268358 {source="OMIM:166210", source="Orphanet:216804", source="NCIT:C99001"} xref: UMLS:C0268360 {source="NCBI:mim2gene_medline"} -is_a: MONDO:0019019 {source="DC-OMIM:166210", source="DOID:0110341", source="MESH:C536042", source="NCIT:C99001", source="OMIM:166210", source="Orphanet:216804", source="linkedlifedata"} ! osteogenesis imperfecta +is_a: MONDO:0019019 {source="DC-OMIM:166210", source="DOID:0110341", source="MESH:C536042", source="NCIT:C99001", source="OMIM:166210", source="Orphanet:216804", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteogenesis imperfecta relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2197 {source="mim2gene_medgen"} ! COL1A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2198 {source="mim2gene_medgen"} ! COL1A2 property_value: confidence "1.2566407969820799" xsd:double @@ -146755,7 +148168,7 @@ xref: Orphanet:216820 {source="OMIM:166220", source="MONDO:equivalentTo"} xref: SCTID:205497004 {source="MONDO:equivalentTo"} xref: UMLS:C0268363 {source="ORDO:216820/e", source="NCBI:mim2gene_medline", source="NCIT:C98576", source="OMIM:166220", source="MONDO:equivalentTo", source="Orphanet:216820"} is_a: MONDO:0015669 {source="Orphanet:216820"} ! rare disease with dentinogenesis imperfecta -is_a: MONDO:0019019 {source="DC-OMIM:166220", source="DOID:0110340", source="MESH:C536045", source="NCIT:C98576", source="OMIM:166220", source="Orphanet:216820"} ! osteogenesis imperfecta +is_a: MONDO:0019019 {source="DC-OMIM:166220", source="DOID:0110340", source="MESH:C536045", source="NCIT:C98576", source="OMIM:166220", source="Orphanet:216820", source="linkedlifedata"} ! osteogenesis imperfecta relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2197 {source="mim2gene_medgen"} ! COL1A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2198 {source="mim2gene_medgen"} ! COL1A2 property_value: confidence "1.2566407969820799" xsd:double @@ -147002,7 +148415,7 @@ xref: UMLS:C0029456 {source="OMIM:166710"} xref: UMLS:C0029458 {source="MEDGEN:kboom-pr98-c99", source="OMIM:166710", source="MONDO:equivalentTo"} xref: UMLS:C0029459 {source="OMIM:166710"} xref: UMLS:C2674640 {source="OMIM:166710"} -is_a: MONDO:0005298 {source="DC-OMIM:166710", source="EFO:0003854", source="MESH:D015663", source="linkedlifedata"} ! osteoporosis +is_a: MONDO:0005298 {source="DC-OMIM:166710", source="EFO:0003854", source="MESH:D015663", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteoporosis property_value: confidence "0.16666666666666674" xsd:double [Term] @@ -147017,12 +148430,12 @@ is_a: MONDO:0003847 {source="MESH:C563483/inferred"} ! inherited genetic disease [Term] id: MONDO:0008161 -name: Otodental syndrome +name: otodental syndrome def: "Otodental syndrome is a very rare inherited condition characterized by grossly enlarged canine and molar teeth (globodontia) associated with sensorineural hearing loss." [Orphanet:2791] subset: ordo_malformation_syndrome {source="Orphanet:2791"} synonym: "chromosome 11q13 deletion syndrome" RELATED [OMIM:166750] synonym: "Globodontia" EXACT [Orphanet:2791] -synonym: "Oculootodental syndrome" RELATED [OMIM:166750] +synonym: "oculootodental syndrome" RELATED [OMIM:166750] synonym: "OTODENTAL dysplasia" RELATED [OMIM:166750] synonym: "Otodental dysplasia" EXACT [Orphanet:2791] synonym: "Otodental syndrome" EXACT [OMIM:166750] @@ -147044,7 +148457,7 @@ property_value: confidence "6.312500000000001" xsd:double id: MONDO:0008162 name: otitis media, susceptibility to synonym: "come/Rom" RELATED [OMIM:166760] -synonym: "Oms" RELATED [OMIM:166760] +synonym: "OMS" RELATED [OMIM:166760] synonym: "otitis Media, chronic/recurrent" RELATED [OMIM:166760] synonym: "otitis media, susceptibility to" EXACT [OMIM:166760] xref: OMIM:166760 {source="MONDO:equivalentTo"} @@ -147129,6 +148542,7 @@ is_a: MONDO:0003847 {source="MESH:C563479/inferred"} ! inherited genetic disease id: MONDO:0008167 name: dermoid cyst of ovary def: "A cystic teratoma that arises from the ovary. It presents as a cystic mass that contains sebaceous material admixed with hairs. In a minority of cases it is bilateral." [NCIT:C3856] +synonym: "Dermoid cyst" EXACT [DOID:5117] synonym: "dermoid cyst (& [ovarian])" EXACT [DOID:5117, SCTID:154618004, SCTID:269641006] synonym: "dermoid cyst of ovary" EXACT [DOID:5117, NCIT:C3856, SCTID:189116006] synonym: "dermoid cyst of ovary (disorder)" EXACT [DOID:5117, SCTID:119424003] @@ -147171,7 +148585,7 @@ xref: Orphanet:314473 {source="MONDO:equivalentTo"} xref: SCTID:254865006 {source="MONDO:equivalentTo"} xref: UMLS:C0149951 {source="NCBI:mim2gene_medline", source="OMIM:166970", source="Orphanet:314473", source="ORDO:314473/e", source="NCIT:C3498", source="MONDO:equivalentTo"} is_a: MONDO:0000624 {source="MONDO:Redundant", source="NCIT:C3498/inferred", source="OWLReasoner:Elk-2018-01-05"} ! benign female reproductive system neoplasm -is_a: MONDO:0005167 {source="MESH:C562391", source="NCIT:C3498"} ! fibroma +is_a: MONDO:0005167 {source="MESH:C562391", source="NCIT:C3498", source="linkedlifedata"} ! fibroma is_a: MONDO:0019965 {source="Orphanet:314473"} ! rare benign ovarian tumor property_value: confidence "2.0714285714285716" xsd:double @@ -147229,7 +148643,7 @@ xref: UMLS:C0677886 {source="OMIM:167000"} xref: UMLS:C0919267 {source="NCBI:mim2gene_medline", source="DOID:2394"} xref: UMLS:C1140680 {source="OMIM:167000", source="DOID:2394", source="NCIT:C7431", source="Orphanet:213500"} xref: UMLS:C1299247 {source="DOID:2394"} -is_a: MONDO:0001416 {source="DOID:2394", source="MONDO:Entailed", source="NCIT:C7431"} ! female reproductive organ cancer +is_a: MONDO:0001416 {source="DOID:2394", source="MONDO:Entailed", source="NCIT:C7431", source="linkedlifedata/inferred"} ! female reproductive organ cancer is_a: MONDO:0021068 {source="MONDO:Entailed", source="NCIT:C7431", source="linkedlifedata"} ! ovarian neoplasm intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -147274,7 +148688,7 @@ xref: UMLS:C0156257 {source="MEDGEN:kboom-pr92-c94", source="DOID:585", source=" xref: UMLS:C0392525 {source="NCIT:C114667", source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} xref: UMLS:C1833683 {source="NCBI:mim2gene_medline", source="OMIM:167030", source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:C3665655 {source="OMIM:167030"} -is_a: MONDO:0005240 {source="DOID:585", source="EFO:0004253", source="MESH:D053040", source="linkedlifedata"} ! kidney disease +is_a: MONDO:0005240 {source="DOID:585", source="EFO:0004253", source="MESH:D053040", source="NCIT:C114667/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease is_a: MONDO:0011622 ! nephrolithiasis, uric acid, susceptibility to relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10993 {source="mim2gene_medgen"} ! SLC26A1 @@ -147300,8 +148714,10 @@ name: pachyonychia congenita 1 def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT16 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Jadassohn-Lewandowsky syndrome" RELATED [OMIM:167200] synonym: "Jadassohn-Lewandowsky syndrome, formerly" RELATED [OMIM:167200] +synonym: "KRT16 pachyonychia congenita" EXACT [MONDO:design_pattern] synonym: "pachyonychia congenita 1" EXACT [MONDO:Lexical, OMIM:167200] synonym: "pachyonychia congenita 1; PC1" RELATED [OMIM:167200] +synonym: "pachyonychia congenita caused by mutation in KRT16" EXACT [MONDO:design_pattern] synonym: "pachyonychia congenita type 1" EXACT [MONDORULE:1, OMIM:167200] synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type" RELATED [OMIM:167200] synonym: "pachyonychia congenita, Jadassohn-Lewandowsky type, formerly" RELATED [OMIM:167200] @@ -147320,8 +148736,10 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0008174 name: pachyonychia congenita 2 def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT17 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KRT17 pachyonychia congenita" EXACT [MONDO:design_pattern] synonym: "pachyonychia congenita 2" EXACT [MONDO:Lexical, OMIM:167210] synonym: "pachyonychia congenita 2; PC2" RELATED [OMIM:167210] +synonym: "pachyonychia congenita caused by mutation in KRT17" EXACT [MONDO:design_pattern] synonym: "pachyonychia congenita type 2" EXACT [MONDORULE:1, OMIM:167210] synonym: "pachyonychia congenita, Jackson-Lawler type" RELATED [OMIM:167210] synonym: "pachyonychia congenita, Jackson-Lawler type, formerly" RELATED [OMIM:167210] @@ -147577,8 +148995,8 @@ xref: UMLS:C0341474 {source="ORDO:676/e", source="Orphanet:676"} xref: UMLS:C1832108 {source="OMIM:167800"} xref: UMLS:C1868653 {source="OMIM:167800"} xref: UMLS:C1969419 {source="OMIM:167800"} -is_a: MONDO:0003847 {source="MONDO:Redundant", source="Orphanet:676/inferred", source="SCTID:68072000", source="linkedlife", source="linkedlifedata"} ! inherited genetic disease -is_a: MONDO:0004982 {source="MESH:C537262/inferred", source="MONDO:Redundant", source="NCIT:C95436", source="SCTID:68072000", source="linkedlifedata"} ! pancreatitis +is_a: MONDO:0003847 {source="MONDO:Redundant", source="Orphanet:676/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease +is_a: MONDO:0004982 {source="MESH:C537262/inferred", source="MONDO:Redundant", source="NCIT:C95436", source="linkedlifedata"} ! pancreatitis is_a: MONDO:0005003 {source="MESH:C537262", source="MONDO:Entailed", source="MONDOLEX:0008185"} ! chronic pancreatitis is_a: MONDO:0015112 {source="Orphanet:676"} ! rare pancreatic disease is_a: MONDO:0015618 {source="MONDO:Redundant", source="Orphanet:676"} ! genetic pancreatic disease @@ -147688,6 +149106,7 @@ synonym: "carotid body tumors" RELATED [OMIM:168000] synonym: "chemodectomas" RELATED [OMIM:168000] synonym: "glomus jugulare tumors" RELATED [OMIM:168000] synonym: "glomus tumors, familial, 1" RELATED [OMIM:168000] +synonym: "paraganglioma caused by mutation in SDHD" EXACT [MONDO:design_pattern] synonym: "paraganglioma, carotid body" RELATED [OMIM:168000] synonym: "paragangliomas 1" EXACT [MONDO:Lexical, OMIM:168000] synonym: "paragangliomas 1; PGL1" RELATED [OMIM:168000] @@ -147697,6 +149116,7 @@ synonym: "paragangliomas, familial nonchromaffin, 1" RELATED [OMIM:168000] synonym: "paragangliomas, familial, 1" RELATED [OMIM:168000] synonym: "Paragangliomata" RELATED [OMIM:168000] synonym: "PGL1" RELATED [MONDO:Lexical, OMIM:168000] +synonym: "SDHD paraganglioma" EXACT [MONDO:design_pattern] xref: OMIM:168000 {source="MONDO:equivalentTo"} xref: Orphanet:29072 {source="OMIM:168000", source="MONDO:subClassOf"} xref: UMLS:C0007279 {source="OMIM:168000", source="MONDO:relatedTo"} @@ -147798,9 +149218,11 @@ synonym: "catlin Marks" RELATED [OMIM:168500] synonym: "cranium bifidum occultum" RELATED [OMIM:168500] synonym: "cranium bifidum, hereditary" RELATED [OMIM:168500] synonym: "foramina parietalia permagna" RELATED [OMIM:168500] +synonym: "MSX2 parietal foramina" EXACT [MONDO:design_pattern] synonym: "parietal foramina" RELATED [MONDO:Lexical, OMIM:168500] synonym: "parietal foramina 1" EXACT [OMIM:168500] synonym: "parietal foramina 1; PFM1" RELATED [OMIM:168500] +synonym: "parietal foramina caused by mutation in MSX2" EXACT [MONDO:design_pattern] synonym: "parietal foramina, symmetric" RELATED [OMIM:168500] synonym: "parietal foramina; PFM" RELATED [OMIM:168500] synonym: "PFM" RELATED [MONDO:Lexical, OMIM:168500] @@ -147874,7 +149296,7 @@ xref: Orphanet:411602 {source="OMIM:168601", source="MONDO:subClassOf"} xref: UMLS:C1868595 {source="NCBI:mim2gene_medline", source="OMIM:168601"} xref: UMLS:C1868596 {source="OMIM:168601"} xref: UMLS:C3149705 {source="OMIM:168601"} -is_a: MONDO:0005180 {source="MESH:C566823", source="MONDO:Redundant", source="OMIM:168601"} ! Parkinson disease +is_a: MONDO:0005180 {source="DOID:0060367/inferred", source="MESH:C566823", source="MONDO:Redundant", source="OMIM:168601"} ! Parkinson disease is_a: MONDO:0018466 {source="DOID:0060367", source="Orphanet:411602"} ! hereditary late onset Parkinson disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11138 {source="mim2gene_medgen"} ! SNCA property_value: confidence "0.3096492687679333" xsd:double @@ -148049,7 +149471,9 @@ synonym: "macular dystrophy, patterned, 1; MDPT1" RELATED [OMIM:169150] synonym: "macular dystrophy, patterned, type 1" EXACT [MONDORULE:1, OMIM:169150] synonym: "MDPT1" EXACT [DOID:0060866, MONDO:Lexical, OMIM:169150] synonym: "patterned dystrophy of retinal pigment epithelium" RELATED [OMIM:169150] +synonym: "patterned macular dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern] synonym: "patterned macular dystrophy type 1" EXACT [DOID:0060866, MONDORULE:1] +synonym: "PRPH2 patterned macular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0060866 {source="MONDO:equivalentTo"} xref: GARD:0009821 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:169150 {source="DOID:0060866", source="MONDO:equivalentTo"} @@ -148241,7 +149665,7 @@ xref: Orphanet:704 {source="OMIM:169610", source="GARD:0004270", source="DOID:00 xref: SCTID:49420001 {source="EFO:0004719", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0030809 {source="Orphanet:704", source="ORDO:704/e", source="DOID:0060851", source="MONDO:equivalentTo", source="NCIT:C34910"} xref: UMLS:C1868502 {source="NCBI:mim2gene_medline", source="OMIM:169610", source="GARD:0004270"} -is_a: MONDO:0006594 {source="DOID:0060851", source="EFO:0004719", source="ICD10:L10.0", source="NCIT:C34910", source="linkedlifedata"} ! pemphigus +is_a: MONDO:0006594 {source="DOID:0060851", source="EFO:0004719", source="ICD10:L10.0", source="NCIT:C34910", source="linkedlifedata", source="linkedlifedata/inferred"} ! pemphigus property_value: confidence "0.773399014778325" xsd:double [Term] @@ -148331,6 +149755,7 @@ subset: gard_rare {source="GARD:0006729"} subset: ordo_disease {source="Orphanet:681"} synonym: "familial hypokalemic periodic paralysis" EXACT [DOID:14452] synonym: "familial hypokalemic periodic paralysis (disorder)" EXACT [DOID:14452, SCTID:82732003] +synonym: "familial periodic paralysis" EXACT [DOID:14452] synonym: "familial periodic paralysis (& [hypokalaemic])" EXACT [DOID:14452, SCTID:193241004] synonym: "HKPP" EXACT [MONDO:cjm] synonym: "HOKPP" RELATED [GARD:0006729] @@ -148489,9 +149914,9 @@ xref: SCTID:154789008 {source="DOID:13381"} xref: SCTID:191139001 {source="DOID:13381"} xref: SCTID:84027009 {source="DOID:13381", source="MONDO:kboom-pr-0.96/0.91/0.15", source="EFO:0005576", source="MONDO:equivalentTo"} xref: UMLS:C0002892 {source="NCBI:mim2gene_medline", source="DOID:13381", source="OMIM:170900", source="NCIT:C2871", source="MONDO:equivalentTo"} -is_a: MONDO:0001700 {source="NCIT:C2871", source="linkedlifedata"} ! megaloblastic anemia (disease) +is_a: MONDO:0001700 {source="NCIT:C2871", source="linkedlifedata", source="linkedlifedata/inferred"} ! megaloblastic anemia (disease) is_a: MONDO:0003847 {source="MONDO:Redundant"} ! inherited genetic disease -is_a: MONDO:0006873 {source="DOID:13381", source="MESH:D000752/inferred"} ! nutritional deficiency disease +is_a: MONDO:0006873 {source="DOID:13381", source="MESH:D000752/inferred", source="linkedlifedata/inferred"} ! nutritional deficiency disease is_a: MONDO:0019052 {source="OWLReasoner:2017"} ! inborn errors of metabolism [Term] @@ -148562,7 +149987,7 @@ xref: ONCOTREE:PHC {source="MONDO:equivalentTo"} xref: Orphanet:29072 {source="OMIM:171300", source="MONDO:subClassOf"} xref: UMLS:C0031511 {source="NCBI:mim2gene_medline", source="OMIM:171300"} xref: UMLS:C3149711 {source="OMIM:171300"} -is_a: MONDO:0005165 {source="DOID:0050771", source="MONDO:Redundant"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:0050771", source="DOID:0050771/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: MONDO:0017366 {source="ORDO:29072/btnt"} ! hereditary pheochromocytoma-paraganglioma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10681 {source="mim2gene_medgen"} ! SDHB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10683 {source="mim2gene_medgen"} ! SDHD @@ -148622,7 +150047,7 @@ xref: SCTID:721188000 {source="MONDO:kboom-pr-0.88/0.75/0.18", source="MONDO:equ xref: UMLS:C0025268 {source="OMIM:171400", source="NCBI:mim2gene_medline", source="NCIT:C3226", source="Orphanet:247698", source="DOID:0050430", source="MONDO:equivalentTo", source="ORDO:247698/e"} xref: UMLS:C1833921 {source="OMIM:171400", source="MONDO:directSiblingOf"} is_a: MONDO:0000426 {source="DOID:0050430"} ! autosomal dominant disease -is_a: MONDO:0017169 {source="MONDO:Redundant", source="NCIT:C3226/inferred", source="OMIM:171400", source="Orphanet:247698/inferred", source="linkedlifedata"} ! multiple endocrine neoplasia +is_a: MONDO:0017169 {source="MONDO:Redundant", source="NCIT:C3226/inferred", source="OMIM:171400", source="Orphanet:247698/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! multiple endocrine neoplasia is_a: MONDO:0019003 {source="MONDOLEX:0008234", source="NCIT:C3226", source="Orphanet:247698", source="linkedlifedata"} ! multiple endocrine neoplasia type 2 is_a: MONDO:0019116 {source="Orphanet:247698"} ! catecholamine-producing tumor relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9967 {source="mim2gene_medgen"} ! RET @@ -148758,9 +150183,9 @@ xref: SCTID:13092008 {source="EFO:0003096", source="DOID:11870", source="MONDO:k xref: SCTID:154998003 {source="DOID:11870"} xref: SCTID:267688001 {source="DOID:11870"} xref: UMLS:C0236642 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="DOID:11870", source="NCIT:C85008", source="MONDO:equivalentTo", source="OMIM:172700"} -is_a: MONDO:0005559 {source="EFO:0003096/inferred", source="MESH:D020774/inferred", source="MONDO:Redundant", source="NCIT:C85008", source="linkedlifedata"} ! neurodegenerative disease +is_a: MONDO:0005559 {source="DOID:11870", source="EFO:0003096/inferred", source="MESH:D020774/inferred", source="MONDO:Redundant", source="NCIT:C85008", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease is_a: MONDO:0017276 {source="MESH:D020774", source="ORDO:282/btnt"} ! frontotemporal dementia -is_a: MONDO:0024238 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-03-06", source="linkedlifedata"} ! cerebral degeneration +is_a: MONDO:0024238 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-03-06", source="linkedlifedata", source="linkedlifedata/inferred"} ! cerebral degeneration relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6893 {source="mim2gene_medgen"} ! MAPT relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9508 {source="mim2gene_medgen"} ! PSEN1 relationship: disease_has_location UBERON:0001870 {source="EFO:0000784"} ! frontal cortex @@ -148791,13 +150216,13 @@ xref: Orphanet:2884 {source="OMIM:172800", source="MONDO:equivalentTo"} xref: SCTID:6479008 {source="MONDO:kboom-pr-0.92/0.83/0.14", source="DOID:3263", source="MONDO:equivalentTo"} xref: UMLS:C0080024 {source="NCBI:mim2gene_medline", source="DOID:3263", source="NCIT:C85009", source="OMIM:172800", source="Orphanet:2884", source="ORDO:2884/e", source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:3263"} ! autosomal dominant disease -is_a: MONDO:0019290 {source="Orphanet:2884"} ! hypopigmentation of the skin (disease) +is_a: MONDO:0019290 {source="MESH:D016116/inferred", source="Orphanet:2884"} ! hypopigmentation of the skin (disease) is_a: MONDO:0020191 {source="Orphanet:2884"} ! eyebrow/eyelashes pigmentation anomaly is_a: MONDO:0020276 {source="Orphanet:2884"} ! pigmentation disorder with eye involvement, excluding albinism is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11094 {source="mim2gene_medgen"} ! SNAI2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6342 {source="mim2gene_medgen"} ! KIT -relationship: excluded_subClassOf MONDO:0043209 {source="linkedlife"} ! albinism +relationship: excluded_subClassOf MONDO:0043209 {source="linkedlifedata"} ! albinism relationship: has_modifier HP:0000006 {source="https://ghr.nlm.nih.gov/condition/piebaldism#inheritance"} ! Autosomal dominant inheritance property_value: confidence "3.666666666666667" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4344/piebaldism xsd:anyURI {source="GARD:0004344"} @@ -148817,7 +150242,7 @@ xref: MESH:C536955 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:172850 {source="Orphanet:2885", source="ORDO:2885/e", source="MONDO:equivalentTo"} xref: Orphanet:2885 {source="OMIM:172850", source="MONDO:equivalentTo"} xref: UMLS:C1868311 {source="NCBI:mim2gene_medline", source="OMIM:172850", source="Orphanet:2885", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} -is_a: MONDO:0019290 {source="Orphanet:2885"} ! hypopigmentation of the skin (disease) +is_a: MONDO:0019290 {source="MESH:C536955/inferred", source="Orphanet:2885"} ! hypopigmentation of the skin (disease) property_value: confidence "7.125" xsd:double [Term] @@ -148834,7 +150259,7 @@ xref: MESH:C566801 {source="MONDO:equivalentTo"} xref: OMIM:172870 {source="Orphanet:251295", source="MONDO:equivalentTo", source="ORDO:251295/e"} xref: Orphanet:251295 {source="OMIM:172870", source="MONDO:equivalentTo"} xref: UMLS:C1868310 {source="NCBI:mim2gene_medline", source="OMIM:172870", source="Orphanet:251295", source="MONDO:equivalentTo"} -is_a: MONDO:0019118 {source="Orphanet:251295"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:251295"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2343 {source="mim2gene_medgen"} ! CRB1 property_value: confidence "3.533333333333334" xsd:double @@ -148943,7 +150368,7 @@ xref: OMIM:173200 {source="Orphanet:2897", source="DOID:9212", source="ORDO:2897 xref: Orphanet:2897 {source="OMIM:173200", source="MONDO:equivalentTo"} xref: SCTID:3755001 {source="DOID:9212", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0032027 {source="NCIT:C85014", source="NCBI:mim2gene_medline", source="OMIM:173200", source="Orphanet:2897", source="DOID:9212", source="ORDO:2897/e", source="MONDO:equivalentTo"} -is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred"} ! exanthem (disease) +is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease) is_a: MONDO:0019270 {source="Orphanet:2897"} ! erythrokeratoderma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16446 {source="mim2gene_medgen"} ! CARD14 relationship: excluded_subClassOf MONDO:0005083 {source="DOID:9212"} ! psoriasis @@ -149030,7 +150455,7 @@ xref: Orphanet:2903 {source="OMIM:173600", source="MONDO:equivalentTo"} xref: SCTID:715219001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1868193 {source="OMIM:173600", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:C4275252 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002076 {source="DOID:0080218", source="MESH:C566795", source="linkedlife/inferred"} ! pneumothorax (disease) +is_a: MONDO:0002076 {source="DOID:0080218", source="MESH:C566795", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! pneumothorax (disease) is_a: MONDO:0015118 {source="Orphanet:2903"} ! rare pulmonary disease is_a: MONDO:0015510 {source="Orphanet:2903"} ! rare genetic respiratory disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/27310 {source="mim2gene_medgen"} ! FLCN @@ -149106,7 +150531,7 @@ xref: SCTID:205524002 {source="DOID:12961"} xref: SCTID:38371006 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:12961", source="MONDO:equivalentTo"} xref: UMLS:C0032357 {source="NCBI:mim2gene_medline", source="NCIT:C85017", source="Orphanet:2911", source="DOID:12961", source="ORDO:2911/e", source="MONDO:equivalentTo", source="OMIM:173800"} xref: UMLS:C1868156 {source="OMIM:173800"} -is_a: MONDO:0000839 {source="DOID:12961"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:12961"} ! congenital abnormality is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85017"} ! syndromic disease is_a: MONDO:0015856 {source="Orphanet:2911"} ! syndromic breast hypoplasia/aplasia is_a: MONDO:0019066 {source="Orphanet:2911", source="Orphanet:2911/inferred"} ! syndrome with brachydactyly @@ -149118,8 +150543,10 @@ id: MONDO:0008263 name: polycystic kidney disease 1 def: "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the PKD1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Apkd1" EXACT [DOID:0110858] +synonym: "autosomal dominant polycystic kidney disease caused by mutation in PKD1" EXACT [MONDO:design_pattern] synonym: "PKD1" RELATED [MONDO:Lexical, OMIM:173900] synonym: "Pkd1" EXACT [DOID:0110858] +synonym: "PKD1 autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern] synonym: "polycystic kidney disease 1" EXACT [MONDO:Lexical, OMIM:173900] synonym: "polycystic kidney disease 1 with or without polycystic liver disease" RELATED [OMIM:173900] synonym: "polycystic kidney disease 1 with OR without polycystic liver disease; PKD1" RELATED [OMIM:173900] @@ -149263,7 +150690,7 @@ synonym: "orofaciodigital syndrome V; OFD5" RELATED [OMIM:174300] synonym: "orofaciodigital syndrome, Thurston type" EXACT [Orphanet:2919] synonym: "orofaciodigital syndrome, Thurston type" RELATED [OMIM:174300] synonym: "polydactyly postaxial with median cleft of upper lip" EXACT [Orphanet:2919] -synonym: "polydactyly, postaxial, with Median cleft of upper 51P" RELATED [OMIM:174300] +synonym: "polydactyly, postaxial, with Median cleft of upper lip" RELATED [OMIM:174300] synonym: "polydactyly, postaxial, with median cleft of upper lip" EXACT [DOID:0060375] synonym: "Thurston syndrome" EXACT [OMIM:174300, Orphanet:2919] xref: DOID:0060375 {source="MONDO:equivalentTo"} @@ -149545,7 +150972,7 @@ xref: MESH:C562464 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C3954 {source="MONDO:equivalentTo"} xref: SCTID:87252009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.61"} xref: UMLS:C0236048 {source="NCIT:C3954", source="MONDO:relatedTo"} -is_a: MONDO:0004298 {source="MESH:C562464/inferred", source="MONDO:Redundant", source="NCIT:C3954", source="linkedlife", source="linkedlifedata"} ! stomach disease +is_a: MONDO:0004298 {source="MESH:C562464/inferred", source="MONDO:Redundant", source="NCIT:C3954", source="linkedlifedata", source="linkedlifedata/inferred"} ! stomach disease intersection_of: MONDO:0005079 ! polyp intersection_of: disease_arises_from_structure UBERON:0000945 ! stomach relationship: disease_has_location UBERON:0000945 {source="NCIT:C3954"} ! stomach @@ -149767,10 +151194,12 @@ is_a: MONDO:0003847 ! inherited genetic disease id: MONDO:0008289 name: porencephaly 1 def: "Any porencephaly in which the cause of the disease is a mutation in the COL4A1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "COL4A1 porencephaly" EXACT [MONDO:design_pattern] synonym: "hemiplegia, infantile, with porencephaly porencephaly, type 1" RELATED [OMIM:175780] synonym: "POREN1" RELATED [MONDO:Lexical, OMIM:175780] synonym: "porencephaly 1" EXACT [MONDO:Lexical, OMIM:175780] synonym: "porencephaly 1; POREN1" RELATED [OMIM:175780] +synonym: "porencephaly caused by mutation in COL4A1" EXACT [MONDO:design_pattern] synonym: "porencephaly type 1" EXACT [MONDORULE:1, OMIM:175780] synonym: "porencephaly, type 1, autosomal dominant" RELATED [OMIM:175780] xref: OMIM:175780 {source="MONDO:equivalentTo"} @@ -149905,8 +151334,8 @@ xref: UMLS:C0162565 {source="Orphanet:79276", source="NCBI:mim2gene_medline", so xref: UMLS:C0268322 {source="OMIM:176000"} xref: UMLS:C1867969 {source="OMIM:176000"} xref: UMLS:C2936779 {source="OMIM:176000"} -is_a: MONDO:0002520 {source="DOID:3890", source="Orphanet:79276"} ! acute hepatic porphyria -is_a: MONDO:0019142 {source="MESH:D017118/inferred", source="MONDO:Redundant", source="MONDOLEX:0008294", source="NCIT:C84536", source="Orphanet:79276/inferred"} ! inherited porphyria +is_a: MONDO:0002520 {source="DOID:3890", source="MESH:D017118", source="Orphanet:79276"} ! acute hepatic porphyria +is_a: MONDO:0019142 {source="DOID:3890/inferred", source="MESH:D017118/inferred", source="MONDO:Redundant", source="MONDOLEX:0008294", source="NCIT:C84536", source="Orphanet:79276/inferred"} ! inherited porphyria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4982 {source="mim2gene_medgen"} ! HMBS property_value: confidence "3.7222222222222223" xsd:double @@ -149994,8 +151423,8 @@ xref: SCTID:58275005 {source="DOID:4346", source="MONDO:kboom-pr-1.00/0.91/29.66 xref: UMLS:C0162532 {source="Orphanet:79473", source="NCBI:mim2gene_medline", source="DOID:4346", source="NCIT:C85219", source="OMIM:176200", source="MONDO:equivalentTo"} xref: UMLS:C2936913 {source="OMIM:176200"} xref: UMLS:C3149848 {source="OMIM:176200"} -is_a: MONDO:0002520 {source="DOID:4346", source="Orphanet:79473", source="linkedlifedata"} ! acute hepatic porphyria -is_a: MONDO:0019142 {source="MESH:D046350/inferred", source="MONDO:Redundant", source="MONDOLEX:0008297", source="NCIT:C85219", source="Orphanet:79473/inferred"} ! inherited porphyria +is_a: MONDO:0002520 {source="DOID:4346", source="MESH:D046350", source="Orphanet:79473", source="linkedlifedata"} ! acute hepatic porphyria +is_a: MONDO:0019142 {source="DOID:4346/inferred", source="MESH:D046350/inferred", source="MONDO:Redundant", source="MONDOLEX:0008297", source="NCIT:C85219", source="Orphanet:79473/inferred"} ! inherited porphyria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4886 {source="mim2gene_medgen"} ! HFE relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9280 {source="mim2gene_medgen"} ! PPOX property_value: confidence "4.277777777777779" xsd:double @@ -150070,7 +151499,7 @@ is_a: MONDO:0015160 {source="Orphanet:739"} ! multiple congenital anomalies/dysm is_a: MONDO:0015890 {source="Orphanet:739"} ! rare disorder with congenital hypogonadotropic hypogonadism is_a: MONDO:0016565 {source="Orphanet:739"} ! syndromic obesity is_a: MONDO:0018399 {source="Orphanet:739"} ! rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism -is_a: MONDO:0019040 {source="DOID:11983", source="MESH:D011218", source="linkedlife/inferred"} ! chromosomal anomaly +is_a: MONDO:0019040 {source="DOID:11983", source="MESH:D011218", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! chromosomal anomaly is_a: MONDO:0020016 {source="Orphanet:739"} ! rare neurologic disease with psychiatric involvement is_a: MONDO:0043007 {source="Orphanet:739"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0100038 {source="https://orcid.org/0000-0002-6733-369X"} ! complex neurodevelopmental disorder @@ -150115,7 +151544,9 @@ property_value: confidence "9.0" xsd:double id: MONDO:0008302 name: precocious puberty, central, 1 def: "Any central precocious puberty in which the cause of the disease is a mutation in the KISS1R gene." [MONDO:patterns/disease_series_by_gene] +synonym: "central precocious puberty caused by mutation in KISS1R" EXACT [MONDO:design_pattern] synonym: "CPPB1" RELATED [MONDO:Lexical, OMIM:176400] +synonym: "KISS1R central precocious puberty" EXACT [MONDO:design_pattern] synonym: "precocious puberty, central, 1" EXACT [MONDO:Lexical, OMIM:176400] synonym: "precocious puberty, central, 1; CPPB1" RELATED [OMIM:176400] synonym: "precocious puberty, central, type 1" EXACT [MONDORULE:1, OMIM:176400] @@ -150171,7 +151602,7 @@ synonym: "total premature chromatid separation trait" RELATED [OMIM:176430] xref: EFO:0009077 {source="MONDO:equivalentTo"} xref: OMIM:176430 {source="MONDO:equivalentTo"} xref: UMLS:C1864389 {source="NCBI:mim2gene_medline", source="OMIM:176430", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0003847 {source="EFO:0009077"} ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1149 {source="mim2gene_medgen"} ! BUB1B [Term] @@ -150452,7 +151883,7 @@ xref: SCTID:93974005 {source="DOID:10283"} xref: UMLS:C0033578 {source="DOID:10283"} xref: UMLS:C0376358 {source="NCBI:mim2gene_medline", source="OMIM:176807", source="DOID:10283", source="MEDGEN:kboom-pr98-c99", source="NCIT:C7378", source="MONDO:equivalentTo"} xref: UMLS:C2931456 {source="ORDO:1331/e", source="MONDO:superClassOf", source="Orphanet:1331"} -is_a: MONDO:0003105 {source="DOID:10283", source="MONDO:Redundant", source="NCIT:C7378/inferred", source="linkedlifedata"} ! prostate disease +is_a: MONDO:0003105 {source="DOID:10283", source="MONDO:Redundant", source="NCIT:C7378/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! prostate disease is_a: MONDO:0005836 {source="DOID:10283", source="NCIT:C7378", source="linkedlifedata"} ! male reproductive organ cancer is_a: MONDO:0015511 {source="Orphanet:1331"} ! rare genetic urogenital disease is_a: MONDO:0020032 {source="Orphanet:1331"} ! rare urinary tract tumor @@ -150521,7 +151952,7 @@ xref: SCTID:23150001 {source="DOID:13482", source="MONDO:kboom-pr-0.93/0.75/1.29 xref: SCTID:394527003 {source="DOID:13482"} xref: UMLS:C0085261 {source="NCBI:mim2gene_medline", source="ORDO:744/e", source="DOID:13482", source="NCIT:C85032", source="OMIM:176920", source="Orphanet:744", source="MONDO:equivalentTo"} xref: UMLS:C1867610 {source="OMIM:176920", source="MONDO:superClassOf"} -is_a: MONDO:0000839 {source="DOID:13482"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:13482"} ! congenital abnormality is_a: MONDO:0015501 {source="Orphanet:744"} ! syndrome or malformation associated with head and neck malformations is_a: MONDO:0015651 {source="Orphanet:744"} ! neurocutaneous syndrome with epilepsy is_a: MONDO:0016229 {source="MONDO:Entailed", source="Orphanet:744", source="Orphanet:744/inferred"} ! genetic vascular anomaly @@ -150548,7 +151979,7 @@ xref: OMIM:177000 {source="GARD:0004527", source="MONDO:equivalentTo"} xref: Orphanet:79278 {source="MONDO:directSiblingOf", source="OMIM:177000", source="GARD:0004527", source="MONDO:subClassOf"} xref: UMLS:C0162568 {source="NCBI:mim2gene_medline", source="OMIM:177000", source="NCIT:C84698"} xref: UMLS:C0349426 {source="OMIM:177000"} -is_a: MONDO:0001676 {source="DC-OMIM:177000"} ! erythropoietic protoporphyria +is_a: MONDO:0001676 {source="DC-OMIM:177000", source="OMIM:177000"} ! erythropoietic protoporphyria is_a: MONDO:0019142 {source="MONDO:Redundant", source="MONDOLEX:0008319", source="NCIT:C84698"} ! inherited porphyria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3647 {source="mim2gene_medgen"} ! FECH property_value: confidence "0.045454545454545414" xsd:double @@ -150766,8 +152197,8 @@ xref: MESH:C562401 {source="MONDO:ontobio", source="DOID:1392", source="MONDO:eq xref: OMIM:177800 {source="DOID:1392", source="MONDO:equivalentTo"} xref: SCTID:57138009 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1392", source="MONDO:equivalentTo"} xref: UMLS:C0155300 {source="NCBI:mim2gene_medline", source="OMIM:177800", source="DOID:1392", source="MONDO:equivalentTo"} -is_a: MONDO:0001834 {source="DOID:1392", source="linkedlife/inferred"} ! visual pathway disease -is_a: MONDO:0002135 {source="MESH:C562401", source="linkedlife/inferred"} ! optic nerve disease +is_a: MONDO:0001834 {source="DOID:1392", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! visual pathway disease +is_a: MONDO:0002135 {source="MESH:C562401", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic nerve disease is_a: MONDO:0003847 {source="MESH:C562401/inferred"} ! inherited genetic disease relationship: disease_has_location UBERON:0001783 ! optic disc @@ -150826,8 +152257,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10104/pseudox id: MONDO:0008334 name: psoriasis 1, susceptibility to def: "Any psoriasis in which the cause of the disease is a mutation in the HLA-C gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HLA-C psoriasis" EXACT [MONDO:design_pattern] synonym: "psoriasis 1, susceptibility to" EXACT [MONDO:Lexical, OMIM:177900] synonym: "psoriasis 1, susceptibility to; PSORS1" RELATED [OMIM:177900] +synonym: "psoriasis caused by mutation in HLA-C" EXACT [MONDO:design_pattern] synonym: "PSORS1" RELATED [MONDO:Lexical, OMIM:177900] synonym: "susceptibility to psoriasis 1" RELATED [OMIM:177900] xref: OMIM:177900 {source="MONDO:equivalentTo"} @@ -150957,7 +152390,7 @@ xref: SCTID:60938005 {source="DOID:0060261"} xref: SCTID:61989004 {source="DOID:0060261"} xref: UMLS:C0266573 {source="Orphanet:91411", source="DOID:0060261", source="ORDO:91411/e"} xref: UMLS:C1867438 {source="NCBI:mim2gene_medline", source="OMIM:178300"} -is_a: MONDO:0000728 {source="DOID:0060261", source="linkedlifedata"} ! ptosis (disease) +is_a: MONDO:0000728 {source="DOID:0060261", source="MESH:C566737", source="NCIT:C27049", source="linkedlifedata"} ! ptosis (disease) is_a: MONDO:0020169 {source="Orphanet:91411"} ! rare disorder with ptosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30939 {source="mim2gene_medgen"} ! ZFHX4 property_value: confidence "0.19471518930725118" xsd:double @@ -151630,10 +153063,12 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i synonym: "retinitis pigmentosa" RELATED [MONDO:Lexical, OMIM:268000] synonym: "retinitis pigmentosa 1" EXACT [MONDO:Lexical, OMIM:180100] synonym: "retinitis pigmentosa 1; RP1" RELATED [OMIM:180100] +synonym: "retinitis pigmentosa caused by mutation in RP1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 1" EXACT [DOID:0110390, MONDO:0009981, MONDORULE:1, OMIM:180100] synonym: "retinitis pigmentosa; RP" RELATED [OMIM:268000] synonym: "RP" RELATED [MONDO:Lexical, OMIM:268000] synonym: "RP1" EXACT [DOID:0110390, MONDO:Lexical, OMIM:180100] +synonym: "RP1 retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110390 {source="MONDO:equivalentTo"} xref: GARD:0009149 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110390", source="MONDO:relatedTo"} @@ -151653,9 +153088,11 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:0010382"} synonym: "retinitis pigmentosa 9" EXACT [MONDO:Lexical, OMIM:180104] synonym: "retinitis pigmentosa 9; RP9" RELATED [OMIM:180104] +synonym: "retinitis pigmentosa caused by mutation in RP9" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 9" EXACT [DOID:0110387, MONDORULE:1, OMIM:180104] synonym: "RP 9" RELATED [GARD:0010382] synonym: "RP9" EXACT [DOID:0110387, MONDO:Lexical, OMIM:180104] +synonym: "RP9 retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110387 {source="MONDO:equivalentTo"} xref: GARD:0010382 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110387", source="MONDO:relatedTo"} @@ -151672,8 +153109,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10382/retinit id: MONDO:0008379 name: retinitis pigmentosa 10 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPDH1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "IMPDH1 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 10" EXACT [MONDO:Lexical, OMIM:180105] synonym: "retinitis pigmentosa 10; RP10" RELATED [OMIM:180105] +synonym: "retinitis pigmentosa caused by mutation in IMPDH1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 10" EXACT [DOID:0110388, MONDORULE:2, OMIM:180105] synonym: "RP10" EXACT [DOID:0110388, MONDO:Lexical, OMIM:180105] xref: DOID:0110388 {source="MONDO:equivalentTo"} @@ -151692,6 +153131,7 @@ name: retinoblastoma def: "A malignant tumor that originates in the nuclear layer of the retina. As the most common primary tumor of the eye in children, retinoblastoma is still relatively uncommon, accounting for only 1% of all malignant tumors in pediatric patients. Approximately 95% of cases are diagnosed before age 5. These tumors may be multifocal, bilateral, congenital, inherited, or acquired. Seventy-five percent of retinoblastomas are unilateral; 60% occur sporadically. A predisposition to retinoblastoma has been associated with 13q14 cytogenetic abnormalities. Patients with the inherited form also appear to be at increased risk for secondary nonocular malignancies such as osteosarcoma, malignant fibrous histiocytoma, and fibrosarcoma." [NCIT:C7541] subset: ordo_disease {source="Orphanet:790"} synonym: "eye cancer, retinoblastoma" RELATED [GARD:0007563] +synonym: "neuroblastoma of Retina" EXACT [DOID:768] synonym: "RB" EXACT [DOID:768, NCIT:C7541] synonym: "Rb" RELATED [OMIM:180200] synonym: "RB - retinoblastoma" EXACT [DOID:768, SCTID:134191003] @@ -151718,7 +153158,7 @@ xref: SCTID:269614001 {source="DOID:768"} xref: SCTID:370967009 {source="DOID:768", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0035335 {source="NCBI:mim2gene_medline", source="DOID:768", source="Orphanet:790", source="ORDO:790/e", source="NCIT:C7541", source="MONDO:equivalentTo"} xref: UMLS:C0080113 {source="OMIM:180200"} -is_a: MONDO:0003072 {source="MESH:D012175", source="MONDO:Redundant", source="NCIT:C7541", source="linkedlife/inferred"} ! retinal cancer +is_a: MONDO:0003072 {source="DOID:768/inferred", source="MESH:D012175", source="MONDO:Redundant", source="NCIT:C7541", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! retinal cancer is_a: MONDO:0004338 {source="DOID:768", source="MONDO:Entailed"} ! retinal cell cancer is_a: MONDO:0015121 {source="MONDO:Entailed", source="Orphanet:790"} ! rare eye tumor is_a: MONDO:0024341 {source="MONDO:Redundant", source="NCIT:C7541"} ! retinal cell neoplasm @@ -151726,7 +153166,7 @@ relationship: disease_arises_from_structure UBERON:0005425 ! presumptive neural relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9884 {source="mim2gene_medgen"} ! RB1 relationship: disease_has_location UBERON:0003902 ! retinal neural layer relationship: excluded_subClassOf MONDO:0015966 {source="Orphanet:790"} ! hereditary eye tumor -relationship: excluded_subClassOf MONDO:0020238 {source="Orphanet:790"} ! genetic vitreous-retinal disease +relationship: excluded_subClassOf MONDO:0020238 {source="Orphanet:790"} ! inherited vitreous-retinal disease [Term] id: MONDO:0008381 @@ -151835,8 +153275,10 @@ is_a: MONDO:0003847 ! inherited genetic disease id: MONDO:0008386 name: Axenfeld-Rieger syndrome type 1 def: "A rare autosomal dominant syndrome linked to mutations in the PITX2 gene. It is characterized by abnormalities in the anterior chamber of the eye and underdevelopment of the teeth." [NCIT:C75015] +synonym: "Axenfeld-Rieger syndrome caused by mutation in PITX2" EXACT [MONDO:design_pattern] synonym: "Axenfeld-Rieger syndrome, type 1" RELATED [MONDO:Lexical, OMIM:180500] synonym: "Axenfeld-Rieger syndrome, type 1; RIEG1" RELATED [OMIM:180500] +synonym: "PITX2 Axenfeld-Rieger syndrome" EXACT [MONDO:design_pattern] synonym: "Rgs" RELATED [OMIM:180500] synonym: "Rieg" RELATED [OMIM:180500] synonym: "RIEG1" EXACT [DOID:0110120, MONDO:Lexical, OMIM:180500] @@ -151900,6 +153342,7 @@ name: autosomal dominant Robinow syndrome def: "Autosomal dominant Robinow syndrome (DRS) is the more common type of Robinow syndrome (RS, see this term) characterized by mild to moderate limb shortening and abnormalities of the head, face and external genitalia." [Orphanet:3107] subset: ordo_clinical_subtype {source="Orphanet:3107"} synonym: "autosomal dominant Robinow syndrome" EXACT [Orphanet:3107] +synonym: "Robinow syndrome, autosomal dominant" EXACT [MONDO:design_pattern] synonym: "Robinow syndrome, autosomal dominant type" EXACT [MONDORULE:1] xref: ICD10:Q87.1 {source="ORDO:3107/attributed", source="Orphanet:3107", source="DOID:0060766", source="ORDO:3107/ntbt"} xref: ICD9:759.89 {source="i2s", source="MONDO:relatedTo"} @@ -152030,7 +153473,7 @@ xref: SCTID:15069006 {source="MONDO:kboom-pr-0.73/0.44/0.12", source="DOID:14681 xref: UMLS:C0175693 {source="NCIT:C85068", source="NCBI:mim2gene_medline", source="DOID:14681", source="OMIM:180860", source="ORDO:813/e", source="Orphanet:813", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C85068"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:813"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome -is_a: MONDO:0015329 {source="Orphanet:813"} ! malformation syndrome with short stature +is_a: MONDO:0015329 {source="Orphanet:813", source="linkedlifedata/inferred"} ! malformation syndrome with short stature is_a: MONDO:0015945 {source="Orphanet:813"} ! polymalformative genetic syndrome with increased risk of developing cancer is_a: MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:813", source="Orphanet:813/inferred"} ! rare genetic developmental defect during embryogenesis is_a: MONDO:0019040 {source="DOID:14681", source="MESH:D056730"} ! chromosomal anomaly @@ -152122,7 +153565,9 @@ id: MONDO:0008399 name: sarcoidosis, susceptibility to, 1 def: "Any sarcoidosis in which the cause of the disease is a mutation in the HLA-DRB1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Boeck sarcoid" RELATED [OMIM:181000] -synonym: "sarcoidosis" RELATED [OMIM:181000] +synonym: "HLA-DRB1 sarcoidosis" EXACT [MONDO:design_pattern] +synonym: "sarcoidosis" BROAD [OMIM:181000] +synonym: "sarcoidosis caused by mutation in HLA-DRB1" EXACT [MONDO:design_pattern] synonym: "sarcoidosis, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:181000] synonym: "sarcoidosis, susceptibility to, 1; SS1" RELATED [OMIM:181000] synonym: "sarcoidosis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:181000] @@ -152131,7 +153576,6 @@ synonym: "susceptibility to sarcoidosis 1" RELATED [OMIM:181000] xref: ICD9:135 {source="i2s", source="MONDO:equivalentTo"} xref: OMIM:181000 {source="MONDO:equivalentTo"} xref: Orphanet:797 {source="OMIM:181000", source="MONDO:subClassOf"} -xref: SCTID:31541009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.68/0.34/0.08"} xref: UMLS:C2697310 {source="NCBI:mim2gene_medline", source="OMIM:181000"} is_a: MONDO:0019338 {source="DC-OMIM:181000"} ! sarcoidosis intersection_of: MONDO:0019338 ! sarcoidosis @@ -152430,7 +153874,9 @@ id: MONDO:0008412 name: intestinal schistosomiasis def: "An infection that is caused by Schistosoma japonicum." [NCIT:C35001] synonym: "Katayama fever" EXACT [DOID:0050597] +synonym: "Schistosoma japonicum infection" EXACT [DOID:0050597] synonym: "Schistosoma mansoni infection, susceptibility/resistance to" RELATED [OMIM:181460] +synonym: "Schistosoma mansoni infectious disease" EXACT [DOID:0050597] synonym: "Schistosoma mansoni, intensity of infection by" RELATED [OMIM:181460] synonym: "schistosomiasis japonica" EXACT [DOID:0050597] xref: DOID:0050597 {source="MONDO:equivalentTo"} @@ -152935,7 +154381,7 @@ is_a: MONDO:0000473 {source="DOID:13096"} ! arterial disorder is_a: MONDO:0015939 {source="Orphanet:820"} ! systemic autoimmune disease is_a: MONDO:0016517 {source="MONDO:Redundant", source="Orphanet:820"} ! rare genetic vascular disease is_a: MONDO:0019110 {source="Orphanet:820"} ! rare central nervous system and retinal vascular disease -is_a: MONDO:0019293 {source="OWLReasoner:2017"} ! skin vascular disease +is_a: MONDO:0019293 {source="MESH:D018860", source="OWLReasoner:2017", source="linkedlifedata/inferred"} ! skin vascular disease is_a: MONDO:0019546 {source="Orphanet:820"} ! other acquired skin disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1839 {source="mim2gene_medgen"} ! ADA2 property_value: confidence "4.277777777777778" xsd:double @@ -152946,11 +154392,13 @@ id: MONDO:0008437 name: hereditary spastic paraplegia 3A def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATL1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:100984"} +synonym: "ATL1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "autosomal dominant familial spastic paraplegia 1" EXACT [DOID:0110791] synonym: "autosomal dominant spastic paraplegia 3" EXACT [DOID:0110791] synonym: "autosomal dominant spastic paraplegia type 3" EXACT [DOID:0110791] synonym: "familial spastic paraplegia, autosomal dominant, 1" RELATED [OMIM:182600] synonym: "FSP1" EXACT [DOID:0110791] +synonym: "hereditary spastic paraplegia caused by mutation in ATL1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 3A" EXACT [DOID:0110791, MONDORULE:4] synonym: "spastic paraplegia 3" RELATED [GARD:0005041] synonym: "spastic paraplegia 3, autosomal dominant" RELATED [MONDO:Lexical, OMIM:182600] @@ -152970,7 +154418,7 @@ xref: OMIM:182600 {source="DOID:0110791", source="Orphanet:100984", source="MOND xref: Orphanet:100984 {source="DOID:0110791", source="OMIM:182600", source="MONDO:equivalentTo"} xref: UMLS:C2931355 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:182600", source="Orphanet:100984", source="MONDO:equivalentTo", source="ORDO:100984/e"} is_a: MONDO:0017914 {source="Orphanet:100984"} ! pure or complex autosomal dominant spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:182600", source="Orphanet:100984/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110791", source="MESH:C536864", source="MONDO:Redundant", source="NCIT:C142893", source="OMIM:182600", source="Orphanet:100984/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11231 ! ATL1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11231 {source="mim2gene_medgen"} ! ATL1 @@ -152986,7 +154434,9 @@ synonym: "autosomal dominant spastic paraplegia type 4" EXACT [DOID:0110792] synonym: "familial spastic paraplegia autosomal dominant 2" RELATED [GARD:0004925] synonym: "familial spastic paraplegia, autosomal dominant, 2" RELATED [OMIM:182601] synonym: "FSP2" RELATED [GARD:0004925] +synonym: "hereditary spastic paraplegia caused by mutation in SPAST" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 4" EXACT [DOID:0110792, MONDORULE:1] +synonym: "SPAST hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 4" RELATED [GARD:0004925] synonym: "spastic paraplegia 4, autosomal dominant" RELATED [MONDO:Lexical, OMIM:182601] synonym: "spastic paraplegia 4, autosomal dominant; SPG4" RELATED [OMIM:182601] @@ -153001,7 +154451,7 @@ xref: Orphanet:100985 {source="DOID:0110792", source="MONDO:equivalentTo", sourc xref: UMLS:C1866855 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:182601", source="ORDO:100985/e", source="Orphanet:100985"} xref: UMLS:C4510079 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0017914 {source="Orphanet:100985"} ! pure or complex autosomal dominant spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:182601", source="Orphanet:100985/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110792", source="MESH:C536865", source="MONDO:Redundant", source="NCIT:C129981", source="OMIM:182601", source="Orphanet:100985/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11233 ! SPAST relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11233 {source="mim2gene_medgen"} ! SPAST @@ -153135,7 +154585,9 @@ is_a: MONDO:0003847 ! inherited genetic disease id: MONDO:0008447 name: hereditary spherocytosis type 1 def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the ANK1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ANK1 hereditary spherocytosis" EXACT [MONDO:design_pattern] synonym: "hereditary spherocytosis 1" EXACT [DOID:0110916] +synonym: "hereditary spherocytosis caused by mutation in ANK1" EXACT [MONDO:design_pattern] synonym: "HS1" EXACT [DOID:0110916] synonym: "Sph" RELATED [OMIM:182900] synonym: "SPH1" EXACT [DOID:0110916, MONDO:Lexical, OMIM:182900] @@ -153199,7 +154651,7 @@ xref: Orphanet:823 {source="MONDO:subClassOf", source="OMIM:182940", source="MON xref: SCTID:67531005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:0003105", source="MONDO:equivalentTo"} xref: UMLS:C0027794 {source="OMIM:182940"} xref: UMLS:C0080178 {source="NCIT:C101214", source="OMIM:182940"} -is_a: MONDO:0002320 {source="NCIT:C101214"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="NCIT:C101214"} ! congenital nervous system disorder is_a: MONDO:0017059 {source="Orphanet:823"} ! neural tube closure defect relationship: disease_has_feature MONDO:0001147 ! meningocele (disease) relationship: disease_has_location UBERON:0002240 {source="EFO:0000784"} ! spinal cord @@ -153325,6 +154777,8 @@ name: spinocerebellar ataxia type 6 def: "Spinocerebellar ataxia type 6 (SCA6) is the most common subtype of autosomal dominant cerebellar ataxia type III (ADCA type III; see this term) characterized by late-onset and slowly progressive gait ataxia and other cerebellar signs such as impaired muscle coordination and nystagmus." [Orphanet:98758] subset: gard_rare {source="GARD:0010351"} subset: ordo_disease {source="Orphanet:98758"} +synonym: "autosomal dominant cerebellar ataxia type III caused by mutation in CACNA1A" EXACT [MONDO:design_pattern] +synonym: "CACNA1A autosomal dominant cerebellar ataxia type III" EXACT [MONDO:design_pattern] synonym: "SCA6" EXACT [MONDO:Lexical, OMIM:183086, Orphanet:98758] synonym: "spinocerebellar ataxia 6" RELATED [GARD:0010351, MONDO:Lexical, OMIM:183086] synonym: "spinocerebellar ataxia 6; SCA6" RELATED [OMIM:183086] @@ -153353,6 +154807,8 @@ synonym: "ALS13" RELATED DEPRECATED [DOID:0060204, OMIM:183090] synonym: "amyotrophic lateral sclerosis 13" RELATED DEPRECATED [DOID:0060204, OMIM:183090] synonym: "amyotrophic lateral sclerosis type 13" RELATED [DOID:0060204] synonym: "amyotrophic lateral sclerosis, susceptibility to, 13" RELATED [OMIM:183090] +synonym: "ATXN2 autosomal dominant cerebellar ataxia type I" EXACT [MONDO:design_pattern] +synonym: "autosomal dominant cerebellar ataxia type I caused by mutation in ATXN2" EXACT [MONDO:design_pattern] synonym: "cerebellar Degeneration with slow eye movements" RELATED [OMIM:183090] synonym: "olivopontocerebellar atrophy 2" RELATED [OMIM:183090] synonym: "olivopontocerebellar atrophy Holguin type" RELATED [GARD:0004072] @@ -153379,7 +154835,7 @@ xref: Orphanet:98756 {source="OMIM:183090", source="MONDO:equivalentTo"} xref: SCTID:715751004 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0752121 {source="NCBI:mim2gene_medline", source="Orphanet:98756", source="MEDGEN:kboom-pr98-c99", source="ORDO:98756/e", source="OMIM:183090", source="MONDO:equivalentTo"} xref: UMLS:C3149907 {source="OMIM:183090"} -is_a: MONDO:0004976 {source="DC-OMIM:183090", source="MONDO:Redundant", source="OMIM:183090"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DC-OMIM:183090", source="DOID:0060204", source="MONDO:Redundant", source="OMIM:183090"} ! amyotrophic lateral sclerosis is_a: MONDO:0015548 {source="Orphanet:98756"} ! Huntington disease-like syndrome is_a: MONDO:0019792 {source="Orphanet:98756"} ! autosomal dominant cerebellar ataxia type I intersection_of: MONDO:0019792 ! autosomal dominant cerebellar ataxia type I @@ -153430,9 +154886,9 @@ is_a: MONDO:0003847 ! inherited genetic disease [Term] id: MONDO:0008462 -name: split lower 51P +name: split lower lip synonym: "split LOWER LIP" RELATED [OMIM:183400] -synonym: "split Lower type 51P" EXACT [MONDORULE:4, OMIM:183400] +synonym: "split Lower type lip" EXACT [MONDORULE:4, OMIM:183400] xref: OMIM:183400 {source="MONDO:equivalentTo"} xref: UMLS:C1866743 {source="OMIM:183400", source="NCBI:mim2gene_medline"} is_a: MONDO:0003847 ! inherited genetic disease @@ -153890,7 +155346,7 @@ xref: OMIM:184460 {source="ORDO:140917/e", source="Orphanet:140917", source="MON xref: Orphanet:140917 {source="OMIM:184460", source="MONDO:equivalentTo"} xref: SCTID:719305006 {source="MONDO:kboom-pr-0.77/0.38/0.77", source="MONDO:equivalentTo"} xref: UMLS:C1866656 {source="NCBI:mim2gene_medline", source="Orphanet:140917", source="OMIM:184460", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="Orphanet:140917/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="Orphanet:140917/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0019589 {source="Orphanet:140917"} ! syndromic genetic deafness relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7866 {source="mim2gene_medgen"} ! NOG property_value: confidence "6.5" xsd:double @@ -153972,7 +155428,7 @@ xref: UMLS:C0032460 {source="DOID:11612", source="NCBI:mim2gene_medline", source xref: UMLS:C1299574 {source="OMIM:184700"} is_a: MONDO:0002254 {source="DOID:11612", source="MONDOLEX:0008487", source="NCIT:C26862"} ! syndromic disease is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0005151 {source="EFO:0000660", source="MESH:D011085/inferred", source="linkedlifedata"} ! endocrine system disease +is_a: MONDO:0005151 {source="EFO:0000660", source="MESH:D011085/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! endocrine system disease [Term] id: MONDO:0008488 @@ -154010,18 +155466,20 @@ name: Stickler syndrome type 3 def: "Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both arecaused by mutations in the COL2A1 gene. Stickler syndrome type II , sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III , sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/5021/stickler-syndrome-type-3] subset: gard_rare {source="GARD:0005021"} subset: ordo_malformation_syndrome {source="Orphanet:166100"} +synonym: "COL11A2 Stickler syndrome" EXACT [MONDO:design_pattern] synonym: "OSMED, heterozygous" RELATED [OMIM:184840] synonym: "OSMEDA" RELATED [OMIM:184840] synonym: "otospondylomegaepiphyseal dysplasia, autosomal dominant" RELATED [OMIM:184840] synonym: "otospondylomegaepiphyseal dysplasia, autosomal dominant; OSMEDA" RELATED [OMIM:184840] synonym: "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type" RELATED [OMIM:184840] synonym: "Pierre Robin syndrome with fetal chondrodysplasia Stickler syndrome, Nonocular type, formerly" RELATED [OMIM:184840] +synonym: "Stickler syndrome caused by mutation in COL11A2" EXACT [MONDO:design_pattern] synonym: "Stickler syndrome nonocular type" RELATED [GARD:0005021] synonym: "Stickler syndrome, non-ocular type" EXACT [Orphanet:166100] synonym: "Stickler syndrome, Nonocular type" RELATED [OMIM:184840] synonym: "Stickler syndrome, type 3" RELATED [GARD:0005021] synonym: "STICKLER syndrome, type III" RELATED [MONDO:Lexical, OMIM:184840] -synonym: "Stickler syndrome, type Iii, formerly" RELATED [OMIM:184840] +synonym: "Stickler syndrome, type III, formerly" RELATED [OMIM:184840] synonym: "STICKLER syndrome, type III; STL3" RELATED [OMIM:184840] synonym: "STL3" RELATED [MONDO:Lexical, OMIM:184840] xref: GARD:0005021 {source="MONDO:equivalentTo"} @@ -154186,7 +155644,7 @@ xref: SCTID:234474009 {source="MONDO:kboom-pr-0.90/0.69/1.16", source="DOID:2223 xref: SCTID:9417000 {source="DOID:2223"} xref: UMLS:C0032197 {source="DOID:2223", source="OMIM:185050"} xref: UMLS:C0543679 {source="NCBI:mim2gene_medline"} -is_a: MONDO:0002245 {source="DOID:2223", source="MESH:D010981", source="MONDO:Redundant", source="linkedlifedata"} ! blood platelet disease +is_a: MONDO:0002245 {source="DOID:2223", source="MESH:D010981", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! blood platelet disease is_a: MONDO:0018795 {source="Orphanet:734"} ! syndromic constitutional thrombocytopenia relationship: disease_has_location CL:0000233 {source="EFO:0000784"} ! platelet property_value: confidence "0.9166666666666667" xsd:double @@ -154228,7 +155686,7 @@ xref: OMIM:185070 {source="DOID:0060354", source="Orphanet:3204", source="MONDO: xref: Orphanet:3204 {source="DOID:0060354", source="OMIM:185070", source="MONDO:equivalentTo"} xref: SCTID:711407000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:0060354", source="MONDO:equivalentTo"} xref: UMLS:C1861451 {source="NCBI:mim2gene_medline", source="DOID:0060354", source="Orphanet:3204", source="OMIM:185070", source="MONDO:equivalentTo"} -is_a: MONDO:0002245 {source="DOID:0060354", source="MESH:C566108", source="MONDO:Redundant", source="linkedlifedata"} ! blood platelet disease +is_a: MONDO:0002245 {source="DOID:0060354", source="MESH:C566108", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! blood platelet disease is_a: MONDO:0018795 {source="Orphanet:3204"} ! syndromic constitutional thrombocytopenia property_value: confidence "25.98412698412698" xsd:double @@ -154314,7 +155772,7 @@ is_a: MONDO:0015651 {source="Orphanet:3205"} ! neurocutaneous syndrome with epil is_a: MONDO:0015658 {source="Orphanet:3205"} ! cerebral diseases of vascular origin with epilepsy is_a: MONDO:0018719 {source="Orphanet:3205"} ! rare capillary malformation with associated anomalies is_a: MONDO:0020222 {source="Orphanet:3205"} ! rare disease with glaucoma as a major feature -is_a: MONDO:0042983 {source="https://www.hopkinsmedicine.org"} ! neurocutaneous syndrome +is_a: MONDO:0042983 {source="MESH:D013341", source="NCIT:C3391", source="https://www.hopkinsmedicine.org", source="linkedlifedata"} ! neurocutaneous syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4390 {source="mim2gene_medgen"} ! GNAQ relationship: disease_has_feature MONDO:0020182 {source="Orphanet:3205-modified"} ! palpebral tumor with a vascular malformation relationship: disease_has_feature MONDO:0020200 {source="Orphanet:3205-modified"} ! conjunctival hemangioma or hemolymphangioma @@ -154539,6 +155997,8 @@ id: MONDO:0008513 name: synpolydactyly type 1 def: "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the HOXD13 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:295195"} +synonym: "HOXD13 non-syndromic synpolydactyly" EXACT [MONDO:design_pattern] +synonym: "non-syndromic synpolydactyly caused by mutation in HOXD13" EXACT [MONDO:design_pattern] synonym: "SD2, Vordingborg type" EXACT [Orphanet:295195] synonym: "SD2a" EXACT [Orphanet:295195] synonym: "SPD, Vordingborg type" EXACT [Orphanet:295195] @@ -154571,6 +156031,8 @@ name: syndactyly type 3 def: "Syndactyly type 3 (SD3) is a rare congenital distal limb malformation characterized by complete and bilateral syndactyly between the 4th and 5th fingers." [Orphanet:93404] subset: gard_rare {source="GARD:0005088"} subset: ordo_morphological_anomaly {source="Orphanet:93404"} +synonym: "GJA1 non-syndromic syndactyly" EXACT [MONDO:design_pattern] +synonym: "non-syndromic syndactyly caused by mutation in GJA1" EXACT [MONDO:design_pattern] synonym: "Ring and Little finger syndactyly" RELATED [OMIM:186100] synonym: "SD3" EXACT [Orphanet:93404] synonym: "Sdty3" RELATED [OMIM:186100] @@ -154600,6 +156062,8 @@ def: "Syndactyly type 4 (SD4) is a very rare congenital distal limb malformation subset: gard_rare {source="GARD:0004434"} subset: ordo_morphological_anomaly {source="Orphanet:93405"} synonym: "Haas type syndactyly" RELATED [OMIM:186200] +synonym: "LMBR1 non-syndromic syndactyly" EXACT [MONDO:design_pattern] +synonym: "non-syndromic syndactyly caused by mutation in LMBR1" EXACT [MONDO:design_pattern] synonym: "polysyndactyly type Haas" RELATED [GARD:0004434] synonym: "polysyndactyly, Haas type" EXACT [OMIM:186200, Orphanet:93405] synonym: "Sd4" RELATED [OMIM:186200] @@ -154693,7 +156157,9 @@ synonym: "deafness-symphalangism syndrome of Herrmann" RELATED [OMIM:186500] synonym: "Facioaudiosymphalangism syndrome" RELATED [OMIM:186500] synonym: "multiple synostoses syndrome 1" EXACT [MONDO:Lexical, OMIM:186500] synonym: "multiple synostoses syndrome 1; SYNS1" RELATED [OMIM:186500] +synonym: "multiple synostoses syndrome caused by mutation in NOG" EXACT [MONDO:design_pattern] synonym: "multiple synostoses syndrome type 1" EXACT [MONDORULE:1, OMIM:186500] +synonym: "NOG multiple synostoses syndrome" EXACT [MONDO:design_pattern] synonym: "symphalangism brachydactyly syndrome" RELATED [GARD:0003836] synonym: "symphalangism-brachydactyly syndrome" RELATED [OMIM:186500] synonym: "synostoses multiple with brachydactyly" RELATED [GARD:0003836] @@ -154945,7 +156411,7 @@ xref: Orphanet:280774 {source="MONDO:equivalentTo"} xref: SCTID:238763007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0406502 {source="NCBI:mim2gene_medline", source="OMIM:187260"} xref: UMLS:C0473555 {source="Orphanet:280774", source="ORDO:280774/e", source="MEDGEN:kboom-pr98-c99", source="OMIM:187260", source="MONDO:equivalentTo"} -is_a: MONDO:0019293 {source="Orphanet:280774"} ! skin vascular disease +is_a: MONDO:0019293 {source="Orphanet:280774", source="linkedlifedata/inferred"} ! skin vascular disease property_value: confidence "2.214285714285714" xsd:double [Term] @@ -155044,7 +156510,7 @@ is_a: MONDO:0002341 {source="NCIT:C35065"} ! granulomatous angiitis is_a: MONDO:0003346 {source="DOID:13375"} ! central nervous system vasculitis is_a: MONDO:0015488 {source="Orphanet:397"} ! predominantly large-vessel vasculitis is_a: MONDO:0019724 {source="Orphanet:397"} ! secondary glomerular disease -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001632 ! temporal artery property_value: confidence "3.166666666666668" xsd:double @@ -155130,7 +156596,7 @@ xref: SCTID:268177006 {source="DOID:6419"} xref: SCTID:86299006 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:6419", source="MONDO:equivalentTo"} xref: UMLS:C0039685 {source="NCBI:mim2gene_medline", source="OMIM:187500", source="ORDO:3303/e", source="NCIT:C84505", source="Orphanet:3303", source="DOID:6419", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease -is_a: MONDO:0005453 {source="DOID:6419", source="MESH:D013771", source="NCIT:C84505", source="linkedlifedata"} ! congenital heart disease +is_a: MONDO:0005453 {source="DOID:6419", source="MESH:D013771", source="NCIT:C84505", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital heart disease is_a: MONDO:0016581 {source="Orphanet:3303"} ! conotruncal heart malformations relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11592 {source="mim2gene_medgen"} ! TBX1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16700 {source="mim2gene_medgen"} ! ZFPM2 @@ -155322,7 +156788,7 @@ xref: UMLS:C1861195 {source="OMIM:187800", source="NCBI:mim2gene_medline", sourc is_a: MONDO:0000009 {source="DC-OMIM:187800", source="MONDOLEX:0008552", source="OMIM:187800"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0003847 {source="MESH:C566061/inferred", source="MONDO:Redundant"} ! inherited genetic disease is_a: MONDO:0020116 {source="DOID:0060691", source="MONDO:Redundant"} ! rare blood coagulation disease -is_a: MONDO:0021181 {source="MESH:C566061/inferred", source="MONDO:Entailed", source="OWLReasoner:2017"} ! inherited blood coagulation disorder +is_a: MONDO:0021181 {source="DOID:0060691", source="MESH:C566061/inferred", source="MONDO:Entailed", source="OWLReasoner:2017"} ! inherited blood coagulation disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6138 {source="mim2gene_medgen"} ! ITGA2B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6156 {source="mim2gene_medgen"} ! ITGB3 @@ -155334,7 +156800,9 @@ synonym: "BDPLT17" EXACT [DOID:0111049, MONDO:Lexical, OMIM:187900] synonym: "bleeding disorder, Platelet-type 17" EXACT [NCIT:C142084] synonym: "bleeding disorder, PLATELET-type, 17" RELATED [MONDO:Lexical, OMIM:187900] synonym: "bleeding disorder, PLATELET-type, 17; BDPLT17" RELATED [OMIM:187900] +synonym: "GFI1B inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern] synonym: "hereditary thrombasthenia-thrombocytopenia" EXACT [DOID:0111049] +synonym: "inherited bleeding disorder, platelet-type caused by mutation in GFI1B" EXACT [MONDO:design_pattern] synonym: "thrombasthenia-thrombocytopenia, hereditary" RELATED [OMIM:187900] xref: DOID:0111049 {source="MONDO:equivalentTo"} xref: ICD10:D69.1 {source="DOID:0111049"} @@ -155610,6 +157078,7 @@ synonym: "DGS" RELATED [MONDO:Lexical, OMIM:188400] synonym: "DGS1" EXACT [NCIT:C2989] synonym: "Di-George syndrome" RELATED [GTR:AN1145678] synonym: "DiGeorge Anomaly" EXACT [NCIT:C2989] +synonym: "DiGeorge sequence" EXACT [DOID:11198] synonym: "DiGeorge sequence (disorder)" EXACT [DOID:11198, SCTID:77128003] synonym: "DiGeorge syndrome" EXACT [MONDO:Lexical, OMIM:188400] synonym: "DiGeorge syndrome chromosome region" RELATED [OMIM:188400] @@ -155691,7 +157160,7 @@ xref: OMIM:188470 {source="MONDO:equivalentTo"} xref: Orphanet:319487 {source="MONDO:subClassOf", source="OMIM:188470"} xref: UMLS:C0206682 {source="NCBI:mim2gene_medline", source="OMIM:188470"} is_a: MONDO:0000201 {source="MONDOLEX:0008566", source="OMIM:188470"} ! thyroid cancer, nonmedullary -is_a: MONDO:0005034 ! thyroid gland follicular carcinoma +is_a: MONDO:0005034 {source="MESH:C572845"} ! thyroid gland follicular carcinoma is_a: MONDO:0017895 {source="ORDO:319487/btnt"} ! familial papillary or follicular thyroid carcinoma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17382 {source="mim2gene_medgen"} ! SRGAP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5173 {source="mim2gene_medgen"} ! HRAS @@ -155739,7 +157208,7 @@ xref: MESH:C536916 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:188560 {source="MONDO:equivalentTo"} xref: UMLS:C1861101 {source="NCBI:mim2gene_medline", source="OMIM:188560", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease -relationship: disease_disrupts GO:0070327 ! thyroid hormone transport +relationship: disease_disrupts GO:0015349 ! thyroid hormone transmembrane transporter activity property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8499/thyroid-hormone-plasma-membrane-transport-defect xsd:anyURI {source="GARD:0008499"} [Term] @@ -155764,6 +157233,8 @@ property_value: confidence "0.8452812500000004" xsd:double id: MONDO:0008570 name: thyrotoxic periodic paralysis, susceptibility to, 1 def: "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the CACNA1S gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CACNA1S thyrotoxic periodic paralysis" EXACT [MONDO:design_pattern] +synonym: "thyrotoxic periodic paralysis caused by mutation in CACNA1S" EXACT [MONDO:design_pattern] synonym: "thyrotoxic periodic paralysis, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:188580] synonym: "thyrotoxic periodic paralysis, susceptibility to, 1; TTPP1" RELATED [OMIM:188580] synonym: "thyrotoxic periodic paralysis, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:188580] @@ -155772,7 +157243,7 @@ xref: OMIM:188580 {source="MONDO:equivalentTo"} xref: Orphanet:79102 {source="MONDO:subClassOf", source="OMIM:188580"} xref: UMLS:C0268446 {source="NCBI:mim2gene_medline", source="MONDO:subClassOf"} xref: UMLS:C2749982 {source="OMIM:188580"} -is_a: MONDO:0019201 {source="DC-OMIM:188580"} ! thyrotoxic periodic paralysis +is_a: MONDO:0019201 {source="DC-OMIM:188580", source="OMIM:188580"} ! thyrotoxic periodic paralysis intersection_of: MONDO:0019201 ! thyrotoxic periodic paralysis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1397 ! CACNA1S relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1397 {source="mim2gene_medgen"} ! CACNA1S @@ -155944,7 +157415,7 @@ xref: UMLS:C0406716 {source="Orphanet:2228", source="ORDO:2228/e"} xref: UMLS:C0406735 {source="NCBI:mim2gene_medline", source="NCIT:C40553", source="DOID:6678", source="OMIM:189500", source="Orphanet:2228", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="DOID:6678", source="MONDO:0008582/inferred", source="MONDO:Redundant", source="MONDOLEX:0008582/inferred", source="NCIT:C40553"} ! syndromic disease is_a: MONDO:0015336 {source="Orphanet:2228"} ! malformation syndrome with odontal and/or periodontal component -is_a: MONDO:0019287 {source="MONDOLEX:0008582", source="OMIM:189500", source="Orphanet:2228", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MONDOLEX:0008582", source="OMIM:189500", source="Orphanet:2228", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7391 {source="mim2gene_medgen"} ! MSX1 relationship: disease_has_feature HP:0000668 ! Hypodontia property_value: confidence "4.833333333333334" xsd:double @@ -156023,7 +157494,7 @@ xref: UMLS:C0162739 {source="NCIT:C84750", source="OMIM:189800", source="DOID:13 xref: UMLS:C0340274 {source="OMIM:189800"} is_a: MONDO:0001641 {source="DOID:13133"} ! severe pre-eclampsia is_a: MONDO:0002254 {source="MONDOLEX:0008585", source="NCIT:C84750"} ! syndromic disease -is_a: MONDO:0005081 {source="EFO:0007297", source="MONDO:Redundant", source="OMIM:189800"} ! preeclampsia +is_a: MONDO:0005081 {source="DOID:13133/inferred", source="EFO:0007297", source="MONDO:Redundant", source="OMIM:189800"} ! preeclampsia is_a: MONDO:0016631 {source="Orphanet:244242"} ! rare hemorrhagic disorder due to an acquired platelet anomaly relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3401 {source="mim2gene_medgen"} ! EPHX1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7876 {source="mim2gene_medgen"} ! NOS3 @@ -156141,6 +157612,8 @@ is_a: MONDO:0003847 {source="MESH:C566038/inferred"} ! inherited genetic disease id: MONDO:0008590 name: tremor, hereditary essential, 1 def: "Any essential tremor in which the cause of the disease is a mutation in the DRD3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DRD3 essential tremor" EXACT [MONDO:design_pattern] +synonym: "essential tremor caused by mutation in DRD3" EXACT [MONDO:design_pattern] synonym: "ETM1" RELATED [MONDO:Lexical, OMIM:190300] synonym: "FET1" RELATED [GARD:0005244] synonym: "tremor familial essential, 1" RELATED [GARD:0005244] @@ -156204,7 +157677,7 @@ xref: UMLS:C0265333 {source="ORDO:3352/e", source="Orphanet:3352", source="NCBI: xref: UMLS:C2931236 {source="GARD:0005252"} is_a: MONDO:0015336 {source="Orphanet:3352"} ! malformation syndrome with odontal and/or periodontal component is_a: MONDO:0019282 {source="Orphanet:3352"} ! syndromic hair shaft abnormality -is_a: MONDO:0019287 {source="Orphanet:3352", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="Orphanet:3352", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0019703 {source="Orphanet:3352"} ! primary bone dysplasia with increased bone density relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2916 {source="mim2gene_medgen"} ! DLX3 property_value: confidence "7.125" xsd:double @@ -156316,6 +157789,7 @@ name: trigeminal neuralgia def: "Trigeminal neuralgia is a nerve disorder that causes a stabbing or electric-shock-like pain in parts of the face. The pain lasts a few seconds to a few minutes, and usually on only one side of the face. It can also cause muscle spasms in the face the same time as the pain. The pain may result from a blood vessel pressing against the trigeminal nerve (the nerve that carries pain, feeling, and other sensations from the brain to the skin of theface), as a complication of multiple sclerosis, or due to compression of the nerve by a tumor or cyst. In some cases, the cause is unknown. Treatment options include medicines, surgery, and complementary approaches." [https://rarediseases.info.nih.gov/diseases/7805/trigeminal-neuralgia] subset: gard_rare {source="GARD:0007805"} subset: ordo_disease {source="Orphanet:221091"} +synonym: "neuralgia of trigeminal nerve" EXACT [MONDO:design_pattern] synonym: "Tic douloureux" RELATED [OMIM:190400] synonym: "trifacial neuralgia" EXACT [DOID:12098, MTHICD9_2006:350.1] synonym: "trifocal neuralgia" EXACT [CSP2005:2042-6701, DOID:12098] @@ -156339,7 +157813,7 @@ xref: SCTID:193090007 {source="DOID:12098"} xref: SCTID:31681005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12098", source="EFO:1001219", source="MONDO:equivalentTo"} xref: SCTID:322769008 {source="DOID:12098"} xref: UMLS:C0040997 {source="Orphanet:221091", source="NCBI:mim2gene_medline", source="ORDO:221091/e", source="DOID:12098", source="OMIM:190400", source="MONDO:equivalentTo"} -is_a: MONDO:0003543 {source="DOID:12098", source="MESH:D014277", source="MONDO:Entailed"} ! trigeminal nerve disease +is_a: MONDO:0003543 {source="DOID:12098", source="MESH:D014277", source="MONDO:Entailed", source="linkedlifedata"} ! trigeminal nerve disease is_a: MONDO:0016374 {source="MONDO:Entailed", source="MONDOLEX:0008599", source="Orphanet:221091"} ! cranial neuralgia intersection_of: MONDO:0021667 ! neuralgia intersection_of: disease_has_location UBERON:0001645 ! trigeminal nerve @@ -156387,6 +157861,8 @@ id: MONDO:0008603 name: trigonocephaly 1 def: "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FGFR1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "craniosynostosis, metopic" RELATED [OMIM:190440] +synonym: "FGFR1 isolated trigonocephaly" EXACT [MONDO:design_pattern] +synonym: "isolated trigonocephaly caused by mutation in FGFR1" EXACT [MONDO:design_pattern] synonym: "TRIGNO1" RELATED [MONDO:Lexical, OMIM:190440] synonym: "trigonocephaly 1" EXACT [MONDO:Lexical, OMIM:190440] synonym: "trigonocephaly 1; TRIGNO1" RELATED [OMIM:190440] @@ -156511,14 +157987,14 @@ xref: UMLS:C1860787 {source="OMIM:190685"} xref: UMLS:C1860788 {source="OMIM:190685"} xref: UMLS:C1860789 {source="OMIM:190685"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C2993"} ! syndromic disease -is_a: MONDO:0003847 {source="EFO:0001064", source="MESH:D004314/inferred", source="MONDO:Redundant", source="NCIT:C2993", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="DOID:14250/inferred", source="EFO:0001064", source="MESH:D004314/inferred", source="MONDO:Redundant", source="NCIT:C2993", source="linkedlifedata"} ! inherited genetic disease is_a: MONDO:0015159 {source="Orphanet:870"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:870"} ! rare syndromic intellectual disability is_a: MONDO:0015506 {source="Orphanet:870"} ! rare syndrome with cardiac malformations is_a: MONDO:0015652 {source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature is_a: MONDO:0015983 {source="Orphanet:870"} ! rare genetic syndromic intellectual disability is_a: MONDO:0018792 {source="Orphanet:870"} ! Moyamoya syndrome -is_a: MONDO:0019040 {source="DOID:14250", source="MESH:D004314", source="Orphanet:870/inferred", source="linkedlife/inferred"} ! chromosomal anomaly +is_a: MONDO:0019040 {source="DOID:14250", source="MESH:D004314", source="Orphanet:870/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! chromosomal anomaly is_a: MONDO:0020051 {source="Orphanet:870"} ! total autosomal trisomy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2708 {source="mim2gene_medgen"} ! DCR relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4170 {source="mim2gene_medgen"} ! GATA1 @@ -156557,7 +158033,7 @@ xref: SCTID:51886007 {source="MONDO:kboom-pr-0.92/0.83/0.20", source="DOID:11661 xref: SCTID:85049009 {source="DOID:11661"} xref: UMLS:C0155017 {source="Orphanet:88629", source="NCBI:mim2gene_medline", source="DOID:11661", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} xref: UMLS:C1412770 {source="OMIM:190900"} -is_a: MONDO:0001703 {source="DOID:11661", source="MONDOLEX:0008610", source="Orphanet:88629", source="linkedlifedata"} ! color vision disorder +is_a: MONDO:0001703 {source="DOID:11661", source="MONDOLEX:0008610", source="Orphanet:88629", source="linkedlifedata", source="linkedlifedata/inferred"} ! color vision disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1012 {source="mim2gene_medgen"} ! OPN1SW [Term] @@ -156586,9 +158062,11 @@ name: tuberous sclerosis 1 def: "Tuberous sclerosis mapped to chromosome 9q34 (TSC1 gene)." [NCIT:C75122] subset: gard_rare synonym: "TSC1" RELATED [MONDO:Lexical, OMIM:191100] +synonym: "TSC1 tuberous sclerosis" EXACT [MONDO:design_pattern] synonym: "tuberose sclerosis" RELATED [OMIM:191100] synonym: "tuberous sclerosis 1" EXACT [MONDO:Lexical, OMIM:191100] synonym: "tuberous sclerosis 1; TSC1" RELATED [OMIM:191100] +synonym: "tuberous sclerosis caused by mutation in TSC1" EXACT [MONDO:design_pattern] synonym: "tuberous sclerosis Complex" RELATED [OMIM:191100] synonym: "tuberous sclerosis type 1" EXACT [MONDORULE:1, OMIM:191100] synonym: "tuberous sclerosis, type 1" RELATED [GARD:0005380] @@ -156666,7 +158144,7 @@ xref: OMIM:191390 {source="DOID:0110894", source="MONDO:equivalentTo"} xref: Orphanet:206 {source="OMIM:191390"} xref: Orphanet:771 {source="OMIM:191390"} xref: UMLS:C2674051 {source="NCBI:mim2gene_medline", source="OMIM:191390", source="MONDO:equivalentTo"} -is_a: MONDO:0005265 {source="MESH:C567154", source="OMIM:191390"} ! inflammatory bowel disease +is_a: MONDO:0005265 {source="DOID:0110894", source="MESH:C567154", source="OMIM:191390"} ! inflammatory bowel disease property_value: confidence "2.2000000000000006" xsd:double [Term] @@ -156778,7 +158256,7 @@ xref: OMIM:191482 {source="ORDO:1264/e", source="MONDO:equivalentTo", source="Or xref: Orphanet:1264 {source="OMIM:191482", source="MONDO:equivalentTo"} xref: SCTID:719910004 {source="MONDO:kboom-pr-1.00/0.81/11.46", source="MONDO:equivalentTo"} xref: UMLS:C1860605 {source="OMIM:191482", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="Orphanet:1264"} -is_a: MONDO:0019287 {source="Orphanet:1264", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="Orphanet:1264", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome property_value: confidence "9.0" xsd:double [Term] @@ -156878,7 +158356,7 @@ xref: NCIT:C123159 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:4022", xref: OMIM:191650 {source="DOID:4022", source="MONDO:equivalentTo"} xref: SCTID:12818004 {source="EFO:1001227", source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:4022", source="MONDO:equivalentTo"} xref: UMLS:C0041960 {source="NCBI:mim2gene_medline", source="OMIM:191650", source="NCIT:C123159", source="DOID:4022"} -is_a: MONDO:0001926 {source="DOID:4022", source="MESH:D014518"} ! ureteral disease +is_a: MONDO:0001926 {source="DOID:4022", source="MESH:D014518", source="NCIT:C123159/inferred", source="linkedlifedata/inferred"} ! ureteral disease is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0006026 {source="EFO:1001227"} ! urinary bladder disease @@ -157039,7 +158517,7 @@ xref: SCTID:266331000 {source="DOID:799"} xref: SCTID:276504003 {source="DOID:799"} xref: SCTID:399989005 {source="DOID:799"} xref: UMLS:C0042345 {source="NCBI:mim2gene_medline", source="OMIM:192200", source="DOID:799", source="MONDO:equivalentTo"} -is_a: MONDO:0004634 {source="DOID:799", source="linkedlife", source="linkedlifedata"} ! vein disease +is_a: MONDO:0004634 {source="DOID:799", source="linkedlifedata", source="linkedlifedata/inferred"} ! vein disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_arises_from_feature HP:0002619 ! Varicose veins relationship: disease_has_basis_in_dysfunction_of UBERON:0001638 ! vein @@ -157106,13 +158584,14 @@ xref: Orphanet:71291 {source="GARD:0010535", source="OMIM:192315"} xref: SCTID:720854004 {source="MONDO:equivalentTo"} xref: SCTID:721141004 {source="MONDO:equivalentTo"} xref: UMLS:C1860518 {source="Orphanet:247691", source="NCBI:mim2gene_medline", source="OMIM:192315", source="GARD:0001217", source="MONDO:equivalentTo"} -is_a: MONDO:0002311 {source="SCTID:721141004", source="linkedlifedata"} ! retinal vascular disease +is_a: MONDO:0002311 {source="linkedlifedata"} ! retinal vascular disease is_a: MONDO:0015939 {source="Orphanet:247691"} ! systemic autoimmune disease is_a: MONDO:0018782 {source="Orphanet:247691"} ! type 1 interferonopathy is_a: MONDO:0018787 {source="Orphanet:247691"} ! genetic cerebral small vessel disease -is_a: MONDO:0019118 {source="Orphanet:247691"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:247691"} ! inherited retinal dystrophy is_a: MONDO:0019723 {source="Orphanet:247691"} ! disease of glomerular basement membrane relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12269 {source="mim2gene_medgen"} ! TREX1 +relationship: disease_has_feature MONDO:0019118 {source="modified-Orphanet:247691"} ! inherited retinal dystrophy property_value: confidence "3.666666666666667" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10535/hereditary-vascular-retinopathy xsd:anyURI {source="GARD:0010535"} property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1217/retinal-vasculopathy-with-cerebral-leukodystrophy xsd:anyURI {source="GARD:0001217"} @@ -157145,7 +158624,7 @@ xref: SCTID:27742002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1467 xref: UMLS:C0220708 {source="OMIM:192350", source="MEDGEN:kboom-pr92-c94", source="NCBI:mim2gene_medline", source="ORDO:887/e", source="DOID:14679", source="Orphanet:887", source="MONDO:equivalentTo"} xref: UMLS:C1735591 {source="OMIM:192350", source="NCIT:C99105", source="ORDO:887/e", source="Orphanet:887", source="MONDO:equivalentTo"} xref: UMLS:CN206312 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C99105"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:14679", source="MONDO:Redundant", source="NCIT:C99105"} ! syndromic disease is_a: MONDO:0015161 {source="Orphanet:887"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015208 {source="Orphanet:887"} ! syndromic esophageal malformation is_a: MONDO:0015246 {source="Orphanet:887"} ! syndromic anorectal malformation @@ -157256,15 +158735,15 @@ xref: SCTID:20852007 {source="MONDO:kboom-pr-0.70/0.38/0.09", source="MONDO:equi xref: UMLS:C0035828 {source="NCBI:mim2gene_medline", source="NCIT:C85049", source="OMIM:192500", source="Orphanet:101016", source="ORDO:101016/e", source="MONDO:equivalentTo"} xref: UMLS:C1843738 {source="OMIM:192500"} xref: UMLS:C3277700 {source="OMIM:192500"} -is_a: MONDO:0002442 {source="MONDO:Redundant", source="NCIT:C85049", source="OMIM:192500"} ! long QT syndrome -is_a: MONDO:0019171 {source="OMIM:192500", source="Orphanet:101016", source="linkedlifedata"} ! familial long QT syndrome +is_a: MONDO:0002442 {source="DOID:0110644", source="MONDO:Redundant", source="NCIT:C85049", source="OMIM:192500"} ! long QT syndrome +is_a: MONDO:0019171 {source="OMIM:192500", source="Orphanet:101016", source="linkedlifedata", source="linkedlifedata/inferred"} ! familial long QT syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6294 {source="mim2gene_medgen"} ! KCNQ1 property_value: confidence "0.3031550068587101" xsd:double [Term] id: MONDO:0008647 name: hypertrophic cardiomyopathy 1 -def: "A hypertrophic cardiomyopathy that has_material_basis_in heterozygous mutation in the MYH7 gene on chromosome 14q12." [DOID:0110307, PMID:1975517] +def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the MYH7 gene." [MONDO:design_pattern] synonym: "asymmetric septal Hypertrophy" RELATED [OMIM:192600] synonym: "cardiomyopathy, familial hypertrophic 1" EXACT [DOID:0110307] synonym: "cardiomyopathy, familial hypertrophic, 1" RELATED [MONDO:Lexical, OMIM:192600] @@ -157272,8 +158751,10 @@ synonym: "cardiomyopathy, familial hypertrophic, 1; CMH1" RELATED [OMIM:192600] synonym: "cardiomyopathy, familial hypertrophic, type 1" EXACT [MONDORULE:1, OMIM:192600] synonym: "Cmh" RELATED [OMIM:192600] synonym: "CMH1" EXACT [DOID:0110307, MONDO:Lexical, OMIM:192600] +synonym: "hypertrophic cardiomyopathy caused by mutation in MYH7" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 1" EXACT [DOID:0110307, MONDORULE:1] synonym: "hypertrophic subaortic stenosis, idiopathic" RELATED [OMIM:192600] +synonym: "MYH7 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "ventricular Hypertrophy, hereditary" RELATED [OMIM:192600] xref: DOID:0110307 {source="MONDO:equivalentTo"} xref: OMIM:192600 {source="DOID:0110307", source="MONDO:equivalentTo"} @@ -157281,7 +158762,7 @@ xref: Orphanet:155 {source="OMIM:192600"} xref: UMLS:C0205700 {source="OMIM:192600"} xref: UMLS:C0949658 {source="OMIM:192600"} xref: UMLS:C3495498 {source="NCBI:mim2gene_medline", source="OMIM:192600"} -is_a: MONDO:0005045 {source="MONDO:Redundant", source="OMIM:192600"} ! hypertrophic cardiomyopathy +is_a: MONDO:0005045 {source="DOID:0110307", source="MONDO:Redundant", source="OMIM:192600"} ! hypertrophic cardiomyopathy is_a: MONDO:0020484 ! rare familial disorder with hypertrophic cardiomyopathy is_a: MONDO:0024573 {source="MONDO:Redundant", source="OMIM", source="OMIM:192600"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy @@ -157455,7 +158936,7 @@ xref: SCTID:267763004 {source="DOID:13941"} xref: UMLS:C0155502 {source="NCBI:mim2gene_medline", source="OMIM:193007", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:13941"} xref: UMLS:C2749845 {source="OMIM:193007"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0004900 {source="DOID:13941", source="linkedlifedata"} ! peripheral vertigo +is_a: MONDO:0004900 {source="DOID:13941", source="linkedlifedata", source="linkedlifedata/inferred"} ! peripheral vertigo [Term] id: MONDO:0008657 @@ -157519,6 +159000,7 @@ def: "Autosomal dominant hypophosphatemic rickets (ADHR) is a hereditary renal p subset: ordo_disease {source="Orphanet:89937"} synonym: "ADHR" EXACT [Orphanet:89937] synonym: "ADHR" RELATED [MONDO:Lexical, OMIM:193100] +synonym: "autosomal dominant hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern] synonym: "autosomal dominant hypophosphatemia" EXACT [Orphanet:89937] synonym: "hereditary hypophosphatemic rickets, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] synonym: "hypophosphatemia, autosomal dominant" RELATED [OMIM:193100] @@ -157534,7 +159016,7 @@ xref: SCTID:237889002 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:eq xref: UMLS:C0342642 {source="ORDO:89937/e", source="NCBI:mim2gene_medline", source="OMIM:193100", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:89937"} xref: UMLS:C1704375 {source="Orphanet:89937"} is_a: MONDO:0000044 {source="DC-OMIM:193100", source="MONDO:Entailed", source="MONDOLEX:0008660", source="OMIM:193100", source="Orphanet:89937"} ! hereditary hypophosphatemic rickets -is_a: MONDO:0000426 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease +is_a: MONDO:0000426 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! autosomal dominant disease is_a: MONDO:0005520 {source="DOID:0050948", source="MESH:C562791", source="MESH:C562791/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! rickets (disease) intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance @@ -157713,7 +159195,7 @@ is_a: MONDO:0019116 {source="Orphanet:892"} ! catecholamine-producing tumor is_a: MONDO:0019741 {source="Orphanet:892"} ! familial cystic renal disease is_a: MONDO:0020063 {source="Orphanet:892"} ! malformation syndrome with hamartosis is_a: MONDO:0020222 {source="Orphanet:892"} ! rare disease with glaucoma as a major feature -is_a: MONDO:0042983 {source="https://en.wikipedia.org/wiki/Phakomatosis"} ! neurocutaneous syndrome +is_a: MONDO:0042983 {source="MESH:D006623", source="NCIT:C3105", source="https://en.wikipedia.org/wiki/Phakomatosis", source="linkedlifedata"} ! neurocutaneous syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12687 {source="mim2gene_medgen"} ! VHL relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1582 {source="mim2gene_medgen"} ! CCND1 property_value: confidence "3.7222222222222223" xsd:double @@ -157744,7 +159226,7 @@ xref: Orphanet:903 {source="OMIM:193400", source="MONDO:subClassOf"} xref: SCTID:128106003 {source="MONDO:equivalentTo"} xref: UMLS:C1264039 {source="NCIT:C131685", source="NCBI:mim2gene_medline", source="OMIM:193400", source="DOID:0060573", source="MONDO:equivalentTo", source="Orphanet:166078", source="ORDO:166078/e"} is_a: MONDO:0019565 {source="DC-OMIM:193400", source="DOID:0060573", source="MESH:D056725", source="MONDOLEX:0008668", source="NCIT:C131685", source="Orphanet:166078"} ! hereditary von Willebrand disease -is_a: MONDO:0024574 {source="NCIT:C131685"} ! von Willebrand disease (hereditary or acquired) +is_a: MONDO:0024574 {source="MESH:D056725", source="NCIT:C131685", source="linkedlifedata"} ! von Willebrand disease (hereditary or acquired) relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12726 {source="mim2gene_medgen"} ! VWF property_value: confidence "3.801097393689986" xsd:double @@ -157788,6 +159270,8 @@ id: MONDO:0008671 name: Waardenburg syndrome type 2A def: "Waardenburg syndrome Type 2 caused by mutations in the MITF gene." [NCIT:C75011] subset: gard_rare {source="GARD:0005521"} +synonym: "MITF Waardenburg syndrome type 2" EXACT [MONDO:design_pattern] +synonym: "Waardenburg syndrome type 2 caused by mutation in MITF" EXACT [MONDO:design_pattern] synonym: "Waardenburg syndrome type IIA" EXACT [DOID:0110950] synonym: "Waardenburg syndrome without dystopia canthorum" RELATED [OMIM:193510] synonym: "Waardenburg syndrome, type 2A" RELATED [MONDO:Lexical, OMIM:193510] @@ -157802,7 +159286,7 @@ xref: OMIM:193510 {source="DOID:0110950", source="MONDO:equivalentTo"} xref: Orphanet:3440 {source="OMIM:193510", source="MONDO:subClassOf"} xref: Orphanet:895 {source="OMIM:193510", source="MONDO:subClassOf"} xref: UMLS:C1860339 {source="NCBI:mim2gene_medline", source="OMIM:193510", source="NCIT:C75011"} -is_a: MONDO:0018094 {source="MONDO:Redundant", source="NCIT:C75011/inferred", source="OMIM:193510"} ! Waardenburg syndrome +is_a: MONDO:0018094 {source="DOID:0110950", source="MONDO:Redundant", source="NCIT:C75011/inferred", source="OMIM:193510"} ! Waardenburg syndrome is_a: MONDO:0019517 {source="MONDO:cjm", source="MONDOLEX:0008671", source="NCIT:C75011"} ! Waardenburg syndrome type 2 intersection_of: MONDO:0019517 ! Waardenburg syndrome type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7105 ! MITF @@ -157856,7 +159340,7 @@ xref: UMLS:C0457013 {source="NCBI:mim2gene_medline", source="OMIM:193530", sourc is_a: MONDO:0015161 {source="Orphanet:952"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015334 {source="Orphanet:952"} ! branchial arch or oral-acral syndrome is_a: MONDO:0018237 {source="Orphanet:952"} ! acrofacial dysostosis -is_a: MONDO:0019287 {source="Orphanet:952", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="Orphanet:952", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0043008 {source="Orphanet:952"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19747 {source="mim2gene_medgen"} ! EVC2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3497 {source="mim2gene_medgen"} ! EVC @@ -157932,6 +159416,8 @@ property_value: confidence "2.220446049250313E-16" xsd:double id: MONDO:0008676 name: white sponge nevus 1 def: "Any hereditary mucosal leukokeratosis in which the cause of the disease is a mutation in the KRT4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "hereditary mucosal leukokeratosis caused by mutation in KRT4" EXACT [MONDO:design_pattern] +synonym: "KRT4 hereditary mucosal leukokeratosis" EXACT [MONDO:design_pattern] synonym: "leukokeratosis, hereditary mucosal" RELATED [OMIM:193900] synonym: "white sponge nevus 1" EXACT [MONDO:Lexical, OMIM:193900] synonym: "WHITE sponge NEVUS 1; WSN1" RELATED [OMIM:193900] @@ -158106,7 +159592,7 @@ xref: SCTID:715215007 {source="MONDO:kboom-pr-0.88/0.76/0.10", source="MONDO:equ xref: UMLS:C0206115 {source="ORDO:893/e", source="DOID:14515", source="Orphanet:893", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C3718", source="OMIM:194072"} xref: UMLS:C2931803 {source="ORDO:893/e", source="Orphanet:893", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000761 {source="DOID:14515"} ! syndrome caused by partial chromosomal deletion -is_a: MONDO:0015356 {source="MESH:D017624/inferred", source="MONDO:Redundant", source="NCIT:C3718", source="Orphanet:893/inferred", source="linkedlifedata"} ! hereditary neoplastic syndrome +is_a: MONDO:0015356 {source="MESH:D017624/inferred", source="MONDO:Redundant", source="NCIT:C3718", source="Orphanet:893/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0015945 {source="Orphanet:893"} ! polymalformative genetic syndrome with increased risk of developing cancer is_a: MONDO:0016565 {source="Orphanet:893"} ! syndromic obesity is_a: MONDO:0016893 {source="Orphanet:893"} ! partial deletion of the short arm of chromosome 11 @@ -158171,7 +159657,7 @@ xref: MESH:C565991 {source="MONDO:equivalentTo"} xref: OMIM:194090 {source="MONDO:equivalentTo"} xref: Orphanet:654 {source="OMIM:194090", source="MONDO:subClassOf"} xref: UMLS:C1860265 {source="NCBI:mim2gene_medline", source="OMIM:194090", source="MONDO:equivalentTo"} -is_a: MONDO:0006058 {source="MONDO:Redundant", source="OMIM:194090"} ! Wilms tumor +is_a: MONDO:0006058 {source="MESH:C565991", source="MONDO:Redundant", source="OMIM:194090"} ! Wilms tumor is_a: MONDO:0019004 {source="DC-OMIM:194090", source="MONDOLEX:0008683"} ! kidney Wilms tumor property_value: confidence "0.625" xsd:double @@ -158423,7 +159909,7 @@ xref: Orphanet:14 {source="OMIM:200100", source="MONDO:equivalentTo"} xref: SCTID:190787008 {source="MONDO:kboom-pr-0.89/0.76/0.27", source="DOID:1386", source="MONDO:equivalentTo"} xref: SCTID:83123000 {source="DOID:1386"} xref: UMLS:C0000744 {source="DOID:1386", source="NCBI:mim2gene_medline", source="NCIT:C84525", source="OMIM:200100", source="ORDO:14/e", source="Orphanet:14", source="MONDO:equivalentTo"} -is_a: MONDO:0002525 {source="MONDO:Redundant", source="NCIT:C84525", source="Orphanet:14/inferred"} ! inherited lipid metabolism disorder +is_a: MONDO:0002525 {source="DOID:1386/inferred", source="MONDO:Redundant", source="NCIT:C84525", source="Orphanet:14/inferred"} ! inherited lipid metabolism disorder is_a: MONDO:0015180 {source="Orphanet:14"} ! intestinal disease due to fat malabsorption is_a: MONDO:0015616 {source="MONDO:Redundant", source="Orphanet:14", source="Orphanet:14/inferred"} ! rare genetic intestinal disease is_a: MONDO:0016133 {source="Orphanet:14"} ! rare hereditary metabolic disease with peripheral neuropathy @@ -158579,7 +160065,7 @@ xref: UMLS:C0014848 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo" xref: UMLS:C1321756 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"} xref: UMLS:C1860213 {source="NCBI:mim2gene_medline", source="OMIM:200400", source="MONDO:subClassOf"} xref: UMLS:C2939435 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0003749 {source="DOID:9164"} ! esophageal disease +is_a: MONDO:0003749 {source="DOID:9164", source="linkedlifedata/inferred"} ! esophageal disease is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0019635 {source="ORDO:930/btnt"} ! idiopathic achalasia property_value: confidence "3.333333333333333" xsd:double @@ -158781,9 +160267,9 @@ subset: gard_rare {source="GARD:0000469"} subset: ordo_malformation_syndrome {source="Orphanet:2561"} synonym: "Ackerman fused molar rooth syndrome" EXACT [Orphanet:2561] synonym: "Ackerman syndrome" EXACT [OMIM:200970] -synonym: "glaucoma, juvenile, with unusual upper 51P and dental roots" RELATED [OMIM:200970] +synonym: "glaucoma, juvenile, with unusual upper lip and dental roots" RELATED [OMIM:200970] synonym: "juvenile glaucoma with unusual upper lip and dental roots" RELATED [GARD:0000469] -synonym: "molar roots, pyramidal, with juvenile glaucoma and unusual upper 51P" RELATED [OMIM:200970] +synonym: "molar roots, pyramidal, with juvenile glaucoma and unusual upper lip" RELATED [OMIM:200970] synonym: "pyramidal molar-glaucoma-upper abnormal lip syndrome" EXACT [Orphanet:2561] synonym: "pyramidal molars, glaucoma, abnormal upper lip" RELATED [GARD:0000469] xref: GARD:0000469 {source="MONDO:equivalentTo"} @@ -158852,7 +160338,7 @@ xref: SCTID:715951007 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:eq xref: UMLS:C0796147 {source="DOID:9250", source="NCBI:mim2gene_medline", source="NCIT:C84531", source="OMIM:200990", source="ORDO:36/e", source="Orphanet:36", source="MONDO:equivalentTo"} xref: UMLS:C2931760 {source="OMIM:200990", source="Orphanet:36"} xref: UMLS:C3277723 {source="OMIM:200990"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84531"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:9250", source="MONDO:Redundant", source="NCIT:C84531"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:36"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:36"} ! rare syndromic intellectual disability is_a: MONDO:0015983 {source="Orphanet:36"} ! rare genetic syndromic intellectual disability @@ -158896,8 +160382,10 @@ synonym: "acrocephalopolysyndactyly type 2" BROAD [OMIM:201000] synonym: "Carpenter syndrome" BROAD [OMIM:201000] synonym: "Carpenter syndrome 1" EXACT [MONDO:Lexical, OMIM:201000] synonym: "CARPENTER syndrome 1; CRPT1" RELATED [OMIM:201000] +synonym: "Carpenter syndrome caused by mutation in RAB23" EXACT [MONDO:design_pattern] synonym: "Carpenter syndrome type 1" EXACT [MONDORULE:1, OMIM:201000] synonym: "CRPT1" RELATED [MONDO:Lexical, OMIM:201000] +synonym: "RAB23 Carpenter syndrome" EXACT [MONDO:design_pattern] xref: OMIM:201000 {source="MONDO:equivalentTo"} xref: Orphanet:65759 {source="MONDO:subClassOf", source="OMIM:201000"} xref: SCTID:205813009 {source="MONDO:kboom-pr-0.68/0.33/0.07", source="MONDO:equivalentTo"} @@ -159113,6 +160601,7 @@ def: "Autosomal recessive form of acrorenal syndrome." [MONDO:patterns/autosomal synonym: "acrorenal syndrome autosomal recessive" RELATED [GARD:0000514] synonym: "acrorenal syndrome recessive" RELATED [GARD:0000514] synonym: "acrorenal syndrome, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:201310] +synonym: "autosomal recessive acrorenal syndrome" EXACT [MONDO:design_pattern] synonym: "Curran syndrome" RELATED [GARD:0000514] xref: GARD:0000514 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: MESH:C535666 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -159127,7 +160616,7 @@ property_value: confidence "4.775" xsd:double [Term] id: MONDO:0008720 -name: adrenocorticotropic hormone deficiency (disease) +name: congenital isolated adrenocorticotropic hormone deficiency (disease) def: "A hypopituitarrium that is characterized by a decreased or absent production of adrenocorticotropic hormone by the pituitary gland." [DOID:0080150, https://en.wikipedia.org/wiki/Adrenocorticotropic_hormone_deficiency, PMID:27041067] subset: ordo_disease {source="Orphanet:199296"} synonym: "ACTH deficiency, isolated" RELATED [MONDO:Lexical, OMIM:201400] @@ -159151,8 +160640,10 @@ xref: UMLS:C0271583 {source="OMIM:201400"} xref: UMLS:C0342388 {source="NCBI:mim2gene_medline", source="OMIM:201400", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0005152 {source="DOID:0080150", source="EFO:1001979", source="MONDO:Redundant", source="linkedlifedata"} ! hypopituitarism is_a: MONDO:0019824 {source="MONDO:Redundant", source="Orphanet:199296"} ! non-acquired pituitary hormone deficiency +intersection_of: MONDO:0019824 ! non-acquired pituitary hormone deficiency +intersection_of: disease_has_basis_in_disruption_of GO:0051458 ! corticotropin secretion +intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11596 {source="mim2gene_medgen"} ! TBX19 -property_value: confidence "2.6923076923076925" xsd:double [Term] id: MONDO:0008721 @@ -159188,7 +160679,7 @@ xref: OMIM:201450 {source="ORDO:42/e", source="DOID:0080153", source="Orphanet:4 xref: Orphanet:42 {source="OMIM:201450", source="MONDO:equivalentTo"} xref: SCTID:128596003 {source="MONDO:kboom-pr-1.00/0.81/10.53", source="MONDO:equivalentTo"} xref: UMLS:C0220710 {source="ORDO:42/e", source="OMIM:201450", source="NCBI:mim2gene_medline", source="Orphanet:42", source="NCIT:C84538", source="MONDO:equivalentTo"} -is_a: MONDO:0017714 {source="Orphanet:42"} ! acyl-CoA dehydrogenase deficiency +is_a: MONDO:0017714 {source="Orphanet:42", source="linkedlifedata"} ! acyl-CoA dehydrogenase deficiency intersection_of: MONDO:0003847 ! inherited genetic disease intersection_of: disease_has_basis_in_disruption_of GO:0070991 ! medium-chain-acyl-CoA dehydrogenase activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/89 {source="mim2gene_medgen"} ! ACADM @@ -159299,7 +160790,7 @@ xref: Orphanet:90790 {source="OMIM:201710", source="MONDO:equivalentTo"} xref: SCTID:44231009 {source="MONDO:kboom-pr-0.77/0.38/0.77", source="MONDO:equivalentTo"} xref: UMLS:C0342474 {source="Orphanet:90790", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:201710", source="ORDO:90790/e", source="MONDO:equivalentTo"} is_a: MONDO:0018412 {source="Orphanet:90790"} ! rare female infertility due to adrenal disorder of genetic origin -is_a: MONDO:0018479 {source="MONDOLEX:0008725", source="Orphanet:90790", source="linkedlifedata"} ! congenital adrenal hyperplasia +is_a: MONDO:0018479 {source="MONDOLEX:0008725", source="Orphanet:90790", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital adrenal hyperplasia is_a: MONDO:0019595 {source="Orphanet:90790"} ! 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect is_a: MONDO:0019852 {source="Orphanet:90790"} ! inherited primary ovarian failure relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11359 {source="mim2gene_medgen"} ! STAR @@ -159344,7 +160835,7 @@ xref: Orphanet:418 {source="OMIM:201810", source="MONDO:subClassOf"} xref: Orphanet:90791 {source="OMIM:201810", source="MONDO:equivalentTo"} xref: SCTID:54470008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.73"} xref: UMLS:C0342471 {source="NCBI:mim2gene_medline", source="OMIM:201810"} -is_a: MONDO:0018479 {source="MONDOLEX:0008727", source="Orphanet:90791"} ! congenital adrenal hyperplasia +is_a: MONDO:0018479 {source="MESH:C538236", source="MONDOLEX:0008727", source="Orphanet:90791"} ! congenital adrenal hyperplasia is_a: MONDO:0019593 {source="Orphanet:90791"} ! 46,XX disorder of sex development induced by fetal androgens excess is_a: MONDO:0019595 {source="Orphanet:90791"} ! 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect intersection_of: MONDO:0018479 ! congenital adrenal hyperplasia @@ -159638,7 +161129,7 @@ xref: SCTID:48180002 {source="MONDO:kboom-pr-0.71/0.41/0.07", source="MONDO:equi xref: UMLS:C0265242 {source="OMIM:202650"} xref: UMLS:C1876185 {source="NCBI:mim2gene_medline", source="OMIM:202650"} xref: UMLS:CN207252 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0000839 {source="DOID:0060341"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:0060341", source="NCIT:C124568"} ! congenital abnormality is_a: MONDO:0015159 {source="Orphanet:990"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:990"} ! rare syndromic intellectual disability is_a: MONDO:0015983 {source="Orphanet:990"} ! rare genetic syndromic intellectual disability @@ -159741,9 +161232,11 @@ synonym: "albinism, oculocutaneous, type IA" RELATED [MONDO:Lexical, OMIM:203100 synonym: "albinism, oculocutaneous, type IA; OCA1A" RELATED [OMIM:203100] synonym: "OCA1A" EXACT [DOID:0070094, Orphanet:79431] synonym: "OCA1A" RELATED [MONDO:Lexical, OMIM:203100] +synonym: "oculocutaneous albinism caused by mutation in TYR" EXACT [MONDO:design_pattern] synonym: "oculocutaneous albinism type IA" RELATED [DOID:0070094] synonym: "oculocutaneous albinism, type 1" RELATED [OMIM:203100] synonym: "oculocutaneous albinism, tyrosinase-negative" EXACT [DOID:0070094, OMIM:203100] +synonym: "TYR oculocutaneous albinism" EXACT [MONDO:design_pattern] synonym: "tyrosinase-negative oculocutaneous albinism" EXACT [Orphanet:79431] xref: DOID:0070094 {source="MONDO:equivalentTo"} xref: ICD10:E70.3 {source="ORDO:79431/attributed", source="Orphanet:79431", source="ORDO:79431/ntbt", source="MONDO:subClassOf"} @@ -159808,12 +161301,14 @@ synonym: "albinism, oculocutaneous, type III" RELATED [MONDO:Lexical, OMIM:20329 synonym: "albinism, oculocutaneous, type III; OCA3" RELATED [OMIM:203290] synonym: "OCA3" EXACT [DOID:0070097, Orphanet:79433] synonym: "OCA3" RELATED [MONDO:Lexical, OMIM:203290] +synonym: "oculocutaneous albinism caused by mutation in TYRP1" EXACT [MONDO:design_pattern] synonym: "oculocutaneous albinism type III" RELATED [DOID:0070097] synonym: "oculocutaneous albinism, type 3" RELATED [OMIM:203290] synonym: "Red oculocutaneous albinism" EXACT [Orphanet:79433] synonym: "ROCA" RELATED [GARD:0009641] synonym: "rufous OCA" RELATED [GARD:0009641] synonym: "rufous oculocutaneous albinism" EXACT [DOID:0070097, OMIM:203290, Orphanet:79433] +synonym: "TYRP1 oculocutaneous albinism" EXACT [MONDO:design_pattern] synonym: "Xanthism" RELATED [GARD:0009641, OMIM:203290] synonym: "xanthous oculocutaneous albinism" EXACT [Orphanet:79433] xref: DOID:0070097 {source="MONDO:equivalentTo"} @@ -159830,7 +161325,7 @@ xref: SCTID:63450009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0 xref: UMLS:C0342683 {source="Orphanet:79433", source="OMIM:203290", source="GARD:0009641", source="ORDO:79433/e"} xref: UMLS:C1859932 {source="NCBI:mim2gene_medline"} xref: UMLS:C2931599 {source="Orphanet:79433", source="ORDO:79433/e"} -is_a: MONDO:0018910 {source="DC-OMIM:203290", source="DOID:0070097", source="MESH:C537731", source="OMIM:203290", source="Orphanet:79433", source="linkedlifedata"} ! oculocutaneous albinism +is_a: MONDO:0018910 {source="DC-OMIM:203290", source="DOID:0070097", source="MESH:C537731", source="OMIM:203290", source="Orphanet:79433", source="linkedlifedata", source="linkedlifedata/inferred"} ! oculocutaneous albinism intersection_of: MONDO:0018910 ! oculocutaneous albinism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12450 ! TYRP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12450 {source="mim2gene_medgen"} ! TYRP1 @@ -159844,8 +161339,10 @@ synonym: "albinism with hemorrhagic diathesis and pigmented reticuloendothelial synonym: "Delta storage pool disease" RELATED [OMIM:203300] synonym: "Hermansky-Pudlak syndrome 1" EXACT [MONDO:Lexical, OMIM:203300] synonym: "Hermansky-Pudlak syndrome 1; HPS1" RELATED [OMIM:203300] +synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS1" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 1" EXACT [DOID:0060539, MONDORULE:1, OMIM:203300] synonym: "HPS1" RELATED [MONDO:Lexical, OMIM:203300] +synonym: "HPS1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060539 {source="MONDO:equivalentTo"} xref: MESH:C538539 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C150367 {source="MONDO:equivalentTo"} @@ -159854,7 +161351,7 @@ xref: Orphanet:231500 {source="OMIM:203300", source="MONDO:subClassOf"} xref: Orphanet:79430 {source="OMIM:203300", source="MONDO:subClassOf"} xref: UMLS:C2931875 {source="NCBI:mim2gene_medline", source="OMIM:203300", source="MONDO:equivalentTo"} is_a: MONDO:0016501 {source="ORDO:231500/btnt"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis -is_a: MONDO:0019312 {source="MESH:C538539", source="MONDO:Redundant", source="OMIM:203300"} ! Hermansky-Pudlak syndrome +is_a: MONDO:0019312 {source="DOID:0060539", source="MESH:C538539", source="MONDO:Redundant", source="NCIT:C150367", source="OMIM:203300"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5163 ! HPS1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5163 {source="mim2gene_medgen"} ! HPS1 @@ -159970,7 +161467,7 @@ xref: SCTID:81854007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4252 xref: UMLS:C0270726 {source="OMIM:203450", source="NCBI:mim2gene_medline", source="NCIT:C84545", source="DOID:4252", source="ORDO:58/e", source="Orphanet:58", source="MONDO:equivalentTo"} is_a: MONDO:0015918 {source="Orphanet:58"} ! rare neurodegenerative disease is_a: MONDO:0015952 {source="Orphanet:58"} ! genetic neurodegenerative disease -is_a: MONDO:0019046 {source="DOID:4252", source="NCIT:C84545", source="Orphanet:58", source="linkedlifedata"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:4252", source="NCIT:C84545", source="Orphanet:58", source="linkedlifedata", source="linkedlifedata/inferred"} ! leukodystrophy is_a: MONDO:0020261 {source="Orphanet:58"} ! neurological disease with abnormal eye movements relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4235 {source="mim2gene_medgen"} ! GFAP property_value: confidence "1.0" xsd:double @@ -160164,7 +161661,7 @@ xref: SCTID:20415001 {source="DOID:1442", source="MONDO:kboom-pr-1.00/0.92/29.66 xref: UMLS:C0205710 {source="DOID:1442", source="NCBI:mim2gene_medline", source="NCIT:C35257", source="OMIM:203700", source="Orphanet:726", source="ORDO:726/e", source="MONDO:equivalentTo"} xref: UMLS:C3149842 {source="OMIM:203700"} is_a: MONDO:0002254 {source="MONDOLEX:0008758", source="NCIT:C35257"} ! syndromic disease -is_a: MONDO:0005559 {source="DOID:1442", source="MONDO:Redundant", source="Orphanet:726/inferred", source="linkedlifedata"} ! neurodegenerative disease +is_a: MONDO:0005559 {source="DOID:1442", source="MONDO:Redundant", source="Orphanet:726/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease is_a: MONDO:0015952 {source="MONDO:Redundant", source="Orphanet:726"} ! genetic neurodegenerative disease is_a: MONDO:0016402 {source="Orphanet:726"} ! mitochondrial disease with epilepsy is_a: MONDO:0016403 {source="Orphanet:726"} ! mitochondrial disease with peripheral neuropathy @@ -160332,10 +161829,12 @@ synonym: "amaurosis congenita of Leber 1" RELATED [OMIM:204000] synonym: "amaurosis congenita of Leber I" EXACT [DOID:0110078] synonym: "amaurosis congenita of Leber, type 1" RELATED [GARD:0000635] synonym: "CRB" RELATED [GARD:0000635] +synonym: "GUCY2D Leber congenital amaurosis" EXACT [MONDO:design_pattern] synonym: "LCA" RELATED [OMIM:204000] synonym: "LCA1" EXACT [DOID:0110078, MONDO:Lexical, OMIM:204000] synonym: "Leber congenital amaurosis 1" EXACT [MONDO:Lexical, OMIM:204000] synonym: "Leber congenital amaurosis 1; LCA1" RELATED [OMIM:204000] +synonym: "Leber congenital amaurosis caused by mutation in GUCY2D" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 1" EXACT [DOID:0110078, MONDORULE:1, OMIM:204000] synonym: "retinal blindness, congenital" RELATED [OMIM:204000] xref: DOID:0110078 {source="MONDO:equivalentTo"} @@ -160360,7 +161859,9 @@ synonym: "amaurosis congenita of Leber, type 2" RELATED [GARD:0000636] synonym: "LCA2" EXACT [DOID:0110016, MONDO:Lexical, OMIM:204100] synonym: "Leber congenital amaurosis 2" EXACT [MONDO:Lexical, OMIM:204100] synonym: "Leber congenital amaurosis 2; LCA2" RELATED [OMIM:204100] +synonym: "Leber congenital amaurosis caused by mutation in RPE65" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 2" EXACT [DOID:0110016, MONDORULE:1, OMIM:204100] +synonym: "RPE65 Leber congenital amaurosis" EXACT [MONDO:design_pattern] xref: DOID:0110016 {source="MONDO:equivalentTo"} xref: GARD:0000636 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110016", source="MONDO:relatedTo"} @@ -160389,7 +161890,7 @@ xref: Orphanet:1021 {source="OMIM:204110", source="MONDO:equivalentTo"} xref: SCTID:720983002 {source="MONDO:kboom-pr-0.76/0.38/0.66", source="MONDO:equivalentTo"} xref: UMLS:C1857588 {source="OMIM:204110", source="Orphanet:1021", source="ORDO:1021/e"} xref: UMLS:C1859843 {source="NCBI:mim2gene_medline", source="GARD:0000637"} -is_a: MONDO:0019118 {source="MESH:C536604/inferred", source="Orphanet:1021", source="linkedlifedata"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="MESH:C536604/inferred", source="Orphanet:1021", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy property_value: confidence "3.533333333333334" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/637/amaurosis-congenita-cone-rod-type-with-congenital-hypertrichosis xsd:anyURI {source="GARD:0000637"} @@ -160405,6 +161906,9 @@ synonym: "ceroid lipofuscinosis, neuronal, type 3" EXACT [MONDORULE:1, OMIM:2042 synonym: "CLN3" EXACT [DOID:0110731, MONDO:Lexical, OMIM:204200] synonym: "CLN3 disease" RELATED [Orphanet:228346] synonym: "CLN3 disease, juvenile" RELATED [GARD:0005897] +synonym: "CLN3 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern] +synonym: "juvenile neuronal ceroid lipofuscinosis" EXACT [DOID:0110731] +synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN3" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 3" EXACT [DOID:0110731, MONDORULE:1] synonym: "neuronal ceroid lipofuscinosis, juvenile" RELATED [OMIM:204200] synonym: "Spielmeyer Sjogren disease" RELATED [GARD:0005897] @@ -160419,7 +161923,7 @@ xref: OMIM:204200 {source="Orphanet:228346", source="ORDO:228346/e", source="DOI xref: Orphanet:228346 {source="OMIM:204200", source="DOID:0110731", source="MONDO:equivalentTo"} xref: Orphanet:79264 {source="OMIM:204200", source="MONDO:subClassOf"} xref: UMLS:C0751383 {source="NCBI:mim2gene_medline", source="NCIT:C61258", source="OMIM:204200"} -is_a: MONDO:0016295 {source="MONDO:Redundant", source="NCIT:C61258", source="OMIM:204200", source="Orphanet:228346/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID:0110731", source="MONDO:Redundant", source="NCIT:C61258", source="OMIM:204200", source="Orphanet:228346/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0019262 {source="MONDOLEX:0008767", source="Orphanet:228346"} ! juvenile neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2074 ! CLN3 @@ -160437,8 +161941,10 @@ synonym: "ceroid lipofuscinosis, neuronal, 4A, autosomal recessive" RELATED [MON synonym: "ceroid lipofuscinosis, neuronal, 4A, autosomal recessive; CLN4A" RELATED [OMIM:204300] synonym: "CLN4A" EXACT [DOID:0110730, MONDO:Lexical, OMIM:204300] synonym: "CLN4A disease" RELATED [Orphanet:228340] +synonym: "CLN6 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern] synonym: "Kuf's disease type A" RELATED [GARD:0006845] synonym: "Kuf's disease, autosomal recessive" RELATED [GARD:0006845] +synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN6" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 4A" EXACT [DOID:0110730, MONDORULE:4] xref: DOID:0110730 {source="MONDO:equivalentTo"} xref: GARD:0006845 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -160447,7 +161953,7 @@ xref: OMIM:204300 {source="Orphanet:228340", source="DOID:0110730", source="MOND xref: Orphanet:228340 {source="OMIM:204300", source="DOID:0110730", source="MONDO:equivalentTo"} xref: Orphanet:79262 {source="OMIM:204300", source="MONDO:subClassOf"} xref: UMLS:C0022797 {source="OMIM:204300", source="NCBI:mim2gene_medline", source="MONDO:subClassOf"} -is_a: MONDO:0016295 {source="MONDO:Redundant", source="OMIM:204300", source="Orphanet:228340/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID:0110730", source="MONDO:Redundant", source="OMIM:204300", source="Orphanet:228340/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0019260 {source="MONDOLEX:0008768", source="Orphanet:228340"} ! adult neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2077 ! CLN6 @@ -160469,8 +161975,10 @@ synonym: "CLN2 disease, juvenile (subtype)" RELATED [GARD:0003045] synonym: "CLN2 disease, late infantile (subtype)" RELATED [GARD:0003045] synonym: "Jansky-Bielschowsky disease" RELATED [OMIM:204500] synonym: "neuronal ceroid lipofuscinosis 2 variable age at onset" EXACT [DOID:0110726] +synonym: "neuronal ceroid lipofuscinosis caused by mutation in TPP1" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 2" EXACT [DOID:0110726, MONDORULE:1] synonym: "neuronal ceroid lipofuscinosis, late infantile" RELATED [OMIM:204500] +synonym: "TPP1 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern] xref: DOID:0110726 {source="MONDO:equivalentTo"} xref: GARD:0003045 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:E75.4 {source="ORDO:228349/ntbt", source="ORDO:228349/attributed", source="MONDO:subClassOf", source="Orphanet:228349", source="DOID:0110726"} @@ -160482,7 +161990,7 @@ xref: Orphanet:79264 {source="OMIM:204500", source="MONDO:subClassOf"} xref: UMLS:C0022340 {source="NCIT:C85864", source="OMIM:204500"} xref: UMLS:C1876161 {source="NCBI:mim2gene_medline", source="OMIM:204500", source="Orphanet:228349"} is_a: MONDO:0015674 {source="MONDOLEX:0008769", source="Orphanet:228349"} ! late infantile neuronal ceroid lipofuscinosis -is_a: MONDO:0016295 {source="MONDO:Redundant", source="NCIT:C85864", source="OMIM:204500", source="Orphanet:228349/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID:0110726", source="MONDO:Redundant", source="NCIT:C85864", source="OMIM:204500", source="Orphanet:228349/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0019262 {source="Orphanet:228349"} ! juvenile neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2073 ! TPP1 @@ -160509,7 +162017,7 @@ xref: Orphanet:100031 {source="OMIM:204650", source="MONDO:subClassOf"} xref: UMLS:C2673923 {source="OMIM:204650", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="MONDO:Redundant"} ! inherited genetic disease is_a: MONDO:0015047 {source="MONDO:Redundant", source="MONDOLEX:0008770", source="ORDO:100031/btnt"} ! hypoplastic amelogenesis imperfecta -is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:204650"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="DOID:0110056", source="MESH:C567147", source="MONDO:Redundant", source="OMIM:204650"} ! amelogenesis imperfecta relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3344 {source="mim2gene_medgen"} ! ENAM [Term] @@ -160524,6 +162032,7 @@ synonym: "AIGFS" EXACT [DOID:0110066] synonym: "amelogenesis imperfecta and gingival fibromatosis syndrome" EXACT [DOID:0110066] synonym: "amelogenesis imperfecta and gingival fibromatosis syndrome" RELATED [OMIM:204690] synonym: "amelogenesis imperfecta and nephrocalcinosis" RELATED [GARD:0009860] +synonym: "amelogenesis imperfecta caused by mutation in FAM20A" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypoplastic type, Ig" RELATED [GARD:0009860] synonym: "amelogenesis imperfecta hypoplastic with nephrocalcinosis" EXACT [DOID:0110066] synonym: "amelogenesis imperfecta nephrocalcinosis" RELATED [GARD:0000646] @@ -160538,6 +162047,7 @@ synonym: "enamel-renal syndrome" EXACT [DOID:0110066] synonym: "enamel-renal syndrome" RELATED [OMIM:204690] synonym: "enamel-renal-gingival syndrome" EXACT [DOID:0110066, OMIM:204690] synonym: "ers" EXACT [DOID:0110066] +synonym: "FAM20A amelogenesis imperfecta" EXACT [MONDO:design_pattern] synonym: "generalized enamel hypoplasia and renal dysfunction" RELATED [GARD:0000646] xref: DOID:0110066 {source="MONDO:equivalentTo"} xref: GARD:0000646 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -160565,12 +162075,14 @@ name: amelogenesis imperfecta type 2A1 def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the KLK4 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare synonym: "AI2A1" EXACT [DOID:0110057, MESH:C538242, MONDO:Lexical, OMIM:204700] +synonym: "amelogenesis imperfecta caused by mutation in KLK4" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta pigmented hypomaturation type" RELATED [GARD:0009495] synonym: "amelogenesis imperfecta pigmented hypomaturation type 1" EXACT [DOID:0110057] synonym: "amelogenesis imperfecta type IIA1" EXACT [DOID:0110057] synonym: "amelogenesis imperfecta, hypomaturation type, IIA1" RELATED [MESH:C538242, MONDO:Lexical, OMIM:204700] synonym: "amelogenesis imperfecta, hypomaturation type, IIA1; AI2A1" RELATED [OMIM:204700] synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 1" RELATED [MESH:C538242, OMIM:204700] +synonym: "KLK4 amelogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110057 {source="MONDO:equivalentTo"} xref: GARD:0009495 {source="MONDO:equivalentTo"} xref: ICD10:K00.5 {source="DOID:0110057"} @@ -160582,7 +162094,7 @@ xref: UMLS:C1290537 {source="GARD:0009495"} xref: UMLS:C2673922 {source="NCBI:mim2gene_medline", source="OMIM:204700"} is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0015048 {source="MONDOLEX:0008772", source="ORDO:100033/btnt"} ! hypomaturation amelogenesis imperfecta -is_a: MONDO:0019507 {source="MESH:C538242", source="MESH:C567146", source="MONDO:Redundant", source="OMIM:204700"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="DOID:0110057", source="MESH:C538242", source="MESH:C567146", source="MONDO:Redundant", source="OMIM:204700"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6365 ! KLK4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6365 {source="mim2gene_medgen"} ! KLK4 @@ -160713,9 +162225,11 @@ subset: gard_rare {source="GARD:0009470"} synonym: "ALS, juvenile" RELATED [OMIM:205100] synonym: "ALS2" EXACT [DOID:0060194, OMIM:205100] synonym: "ALS2" RELATED [MONDO:Lexical, OMIM:205100] +synonym: "ALS2 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis 2" EXACT [DOID:0060194, OMIMl:205100] synonym: "amyotrophic lateral sclerosis 2, juvenile" EXACT [DOID:0060194, MONDO:Lexical, OMIM:205100] synonym: "amyotrophic lateral sclerosis 2, juvenile; ALS2" RELATED [OMIM:205100] +synonym: "amyotrophic lateral sclerosis caused by mutation in ALS2" EXACT [MONDO:design_pattern] xref: DOID:0060194 {source="MONDO:equivalentTo"} xref: GARD:0009470 {source="MONDO:equivalentTo"} xref: ICD10:G12.2 {source="DOID:0060194", source="MONDO:subClassOf"} @@ -160723,7 +162237,7 @@ xref: MESH:C565957 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:205100 {source="DOID:0060194", source="MONDO:equivalentTo"} xref: Orphanet:300605 {source="OMIM:205100", source="MONDO:subClassOf"} xref: UMLS:C1859807 {source="OMIM:205100", source="NCBI:mim2gene_medline"} -is_a: MONDO:0004976 {source="MESH:C565957", source="MONDO:Redundant", source="OMIM:205100"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0060194", source="MESH:C565957", source="MONDO:Redundant", source="OMIM:205100"} ! amyotrophic lateral sclerosis is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis is_a: MONDO:0015952 {source="MONDO:Redundant"} ! genetic neurodegenerative disease is_a: MONDO:0017593 {source="ORDO:300605/btnt"} ! juvenile amyotrophic lateral sclerosis @@ -160823,7 +162337,7 @@ xref: OMIM:205950 {source="DOID:0060065", source="MONDO:equivalentTo"} xref: Orphanet:255132 {source="OMIM:205950", source="MONDO:superClassOf"} xref: Orphanet:260305 {source="OMIM:205950", source="MONDO:subClassOf"} xref: UMLS:C2673914 {source="OMIM:205950", source="NCBI:mim2gene_medline"} -is_a: MONDO:0015194 {source="MESH:C567145", source="MONDO:Redundant", source="OMIM:205950"} ! sideroblastic anemia +is_a: MONDO:0015194 {source="DOID:0060065", source="MESH:C567145", source="MONDO:Redundant", source="OMIM:205950"} ! sideroblastic anemia is_a: MONDO:0016828 {source="ORDO:260305/btnt"} ! autosomal recessive sideroblastic anemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20134 {source="mim2gene_medgen"} ! GLRX5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26054 {source="mim2gene_medgen"} ! SLC25A38 @@ -160844,7 +162358,7 @@ xref: OMIM:206000 {source="DOID:0060066", source="MONDO:equivalentTo"} xref: SCTID:191260004 {source="MONDO:equivalentTo"} xref: UMLS:C0272027 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C1859787 {source="NCBI:mim2gene_medline", source="OMIM:206000", source="MONDO:equivalentTo"} -is_a: MONDO:0015194 {source="DC-OMIM:206000", source="DOID:0060066", source="MESH:C565954", source="MONDOLEX:0008786"} ! sideroblastic anemia +is_a: MONDO:0015194 {source="DC-OMIM:206000", source="DOID:0060066", source="MESH:C565954", source="MONDOLEX:0008786", source="linkedlifedata"} ! sideroblastic anemia relationship: disease_responds_to CHEBI:16709 ! pyridoxine [Term] @@ -161058,8 +162572,8 @@ xref: SCTID:234951001 {source="DOID:13714"} xref: SCTID:26624006 {source="DOID:13714"} xref: UMLS:C0399352 {source="DOID:13714", source="Orphanet:99797"} xref: UMLS:C1290511 {source="NCBI:mim2gene_medline", source="OMIM:206780"} -is_a: MONDO:0003847 {source="Orphanet:99797/inferred", source="linkedlifedata"} ! inherited genetic disease -is_a: MONDO:0006999 {source="DOID:13714", source="MESH:D000848/inferred", source="linkedlifedata"} ! tooth disease +is_a: MONDO:0003847 {source="Orphanet:99797/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease +is_a: MONDO:0006999 {source="DOID:13714", source="MESH:D000848/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! tooth disease is_a: MONDO:0015603 {source="Orphanet:99797"} ! rare odontal or periodontal disorder is_a: MONDO:0018488 {source="Orphanet:99797"} ! rare genetic odontal or periodontal disorder property_value: confidence "0.2272727272727273" xsd:double @@ -161074,11 +162588,14 @@ synonym: "anonychia congenita" RELATED [DOID:0050643] synonym: "anonychia congenita totalis" RELATED [Orphanet:94150] synonym: "anonychia totalis" RELATED [OMIM:206800] synonym: "anonychia/hyponychia congenita" RELATED [OMIM:206800] +synonym: "HYPONYCHIA CONGENITA" EXACT [DOID:0050643] +synonym: "isolated congenital anonychia caused by mutation in RSPO4" EXACT [MONDO:design_pattern] synonym: "nail disorder, nonsyndromic congenital, 4" RELATED [MONDO:Lexical, OMIM:206800] synonym: "nail disorder, nonsyndromic congenital, 4; NDNC4" RELATED [OMIM:206800] synonym: "nail disorder, nonsyndromic congenital, type 4" EXACT [MONDORULE:1, OMIM:206800] synonym: "NDNC4" RELATED [MONDO:Lexical, OMIM:206800] synonym: "nonsyndromic congenital nail disorder type 4" EXACT [DOID:0080082, MONDORULE:1] +synonym: "RSPO4 isolated congenital anonychia" EXACT [MONDO:design_pattern] xref: DOID:0050643 {source="MONDO:equivalentTo"} xref: DOID:0080082 {source="MONDO:equivalentTo"} xref: ICD10:Q84.3 {source="ORDO:94150/attributed", source="ORDO:94150/ntbt", source="Orphanet:94150"} @@ -161319,7 +162836,7 @@ name: familial apolipoprotein C-II deficiency subset: ordo_clinical_subtype {source="Orphanet:309020"} synonym: "Apoc2 deficiency" RELATED [OMIM:207750] synonym: "apolipoprotein C-II deficiency" RELATED [OMIM:207750] -synonym: "C-Ii Anapolipoproteinemia" RELATED [OMIM:207750] +synonym: "C-II Anapolipoproteinemia" RELATED [OMIM:207750] synonym: "familial apoC-II deficiency" EXACT [Orphanet:309020] synonym: "hyperlipoproteinemia, type 1B" RELATED [OMIM:207750] synonym: "hyperlipoproteinemia, type IB" EXACT [GARD:0000759, https://orcid.org/0000-0001-5208-3432] @@ -161508,12 +163025,14 @@ property_value: confidence "25.875" xsd:double id: MONDO:0008817 name: arterial calcification, generalized, of infancy, 1 def: "An autosomal recessive genetic disorder caused by mutations in the ENPP1 gene, encoding ectonucleotide pyrophosphatase/phosphodiesterase family member 1. The condition is characterized by calcification and narrowing of medium- and large-sized arteries, resulting in cardiovascular complications." [NCIT:C128805] +synonym: "arterial calcification of infancy caused by mutation in ENPP1" EXACT [MONDO:design_pattern] synonym: "arterial calcification, generalized, of infancy, 1" EXACT [MONDO:Lexical, OMIM:208000] synonym: "arterial calcification, generalized, of infancy, 1; GACI1" RELATED [OMIM:208000] synonym: "arterial calcification, generalized, of infancy, type 1" EXACT [MONDORULE:1, OMIM:208000] synonym: "arterial calcification, idiopathic infantile" RELATED [OMIM:208000] synonym: "arteriopathy, occlusive infantile" RELATED [OMIM:208000] synonym: "coronary sclerosis, medial, of infancy" RELATED [OMIM:208000] +synonym: "ENPP1 arterial calcification of infancy" EXACT [MONDO:design_pattern] synonym: "Gaci" RELATED [OMIM:208000] synonym: "GACI1" RELATED [MONDO:Lexical, OMIM:208000] synonym: "generalized arterial calcification of infancy 1" EXACT [NCIT:C128805] @@ -161593,6 +163112,8 @@ synonym: "ARCS1" RELATED [MONDO:Lexical, OMIM:208085] synonym: "arthrogryposis, renal dysfunction, and cholestasis 1" EXACT [MONDO:Lexical, OMIM:208085] synonym: "arthrogryposis, renal dysfunction, and cholestasis 1; ARCS1" RELATED [OMIM:208085] synonym: "arthrogryposis, renal dysfunction, and cholestasis type 1" EXACT [MONDORULE:1, OMIM:208085] +synonym: "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VPS33B" EXACT [MONDO:design_pattern] +synonym: "VPS33B arthrogryposis-renal dysfunction-cholestasis syndrome" EXACT [MONDO:design_pattern] xref: OMIM:208085 {source="MONDO:equivalentTo"} xref: Orphanet:2697 {source="OMIM:208085", source="MONDO:subClassOf"} xref: UMLS:C1859722 {source="NCBI:mim2gene_medline", source="OMIM:208085"} @@ -161832,7 +163353,7 @@ xref: Orphanet:93 {source="OMIM:208400", source="MONDO:equivalentTo"} xref: SCTID:54954004 {source="DOID:0050461", source="MONDO:kboom-pr-0.92/0.76/0.91", source="MONDO:equivalentTo"} xref: UMLS:C0268225 {source="Orphanet:93", source="NCBI:mim2gene_medline", source="OMIM:208400", source="NCIT:C61273", source="DOID:0050461", source="ORDO:93/e", source="MONDO:equivalentTo"} xref: UMLS:C2931840 {source="Orphanet:93", source="ORDO:93/e"} -is_a: MONDO:0002561 {source="MESH:D054880", source="MONDO:Redundant", source="NCIT:C61273", source="Orphanet:93/inferred", source="linkedlifedata"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="DOID:0050461", source="MESH:D054880", source="MONDO:Redundant", source="NCIT:C61273", source="Orphanet:93/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0015955 {source="MONDO:Entailed"} ! rare genetic epilepsy is_a: MONDO:0016397 {source="Orphanet:93"} ! lysosomal disease with epilepsy is_a: MONDO:0019058 {source="Orphanet:93"} ! neurometabolic disease @@ -161906,8 +163427,10 @@ property_value: confidence "14.000000000000018" xsd:double id: MONDO:0008833 name: renal-hepatic-pancreatic dysplasia 1 def: "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NPHP3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "NPHP3 renal-hepatic-pancreatic dysplasia" EXACT [MONDO:design_pattern] synonym: "renal-hepatic-pancreatic dysplasia 1" EXACT [MONDO:Lexical, OMIM:208540] synonym: "renal-hepatic-pancreatic dysplasia 1; RHPD1" RELATED [OMIM:208540] +synonym: "renal-hepatic-pancreatic dysplasia caused by mutation in NPHP3" EXACT [MONDO:design_pattern] synonym: "renal-hepatic-pancreatic dysplasia type 1" EXACT [MONDORULE:1, OMIM:208540] synonym: "Rhpd" RELATED [OMIM:208540] synonym: "RHPD1" RELATED [MONDO:Lexical, OMIM:208540] @@ -162040,12 +163563,12 @@ is_a: MONDO:0015707 {source="Orphanet:100"} ! DNA repair defect other than combi is_a: MONDO:0015945 {source="Orphanet:100"} ! polymalformative genetic syndrome with increased risk of developing cancer is_a: MONDO:0015948 {source="Orphanet:100"} ! rare genetic skin vascular disorder is_a: MONDO:0016756 {source="Orphanet:100"} ! inherited nervous system cancer-predisposing syndrome -is_a: MONDO:0019293 {source="Orphanet:100"} ! skin vascular disease +is_a: MONDO:0019293 {source="Orphanet:100", source="linkedlifedata/inferred"} ! skin vascular disease is_a: MONDO:0019852 {source="Orphanet:100"} ! inherited primary ovarian failure is_a: MONDO:0020045 {source="Orphanet:100"} ! autosomal recessive cerebellar ataxia due to a DNA repair defect is_a: MONDO:0020201 {source="Orphanet:100"} ! conjunctival telangiectasia (disease) is_a: MONDO:0020258 {source="Orphanet:100"} ! oculomotor apraxia or related oculomotor disease -is_a: MONDO:0042983 {source="https://en.wikipedia.org/wiki/Phakomatosis"} ! neurocutaneous syndrome +is_a: MONDO:0042983 {source="MESH:D001260", source="NCIT:C2887", source="https://en.wikipedia.org/wiki/Phakomatosis"} ! neurocutaneous syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/795 {source="mim2gene_medgen"} ! ATM property_value: confidence "0.0" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5862/ataxia-telangiectasia xsd:anyURI {source="GARD:0005862"} @@ -162067,6 +163590,7 @@ name: ataxia with oculomotor apraxia type 1 def: "Ataxia with oculomotor apraxia type 1 (AOA1) is a rare autosomal recessive cerebellar ataxia (ARCA; see this term), characterized by progressive cerebellar ataxia associated with oculomotor apraxia, severe neuropathy, and hypoalbuminemia." [Orphanet:1168] subset: ordo_disease {source="Orphanet:1168"} synonym: "AOA1" EXACT [Orphanet:1168] +synonym: "APTX oculomotor apraxia or related oculomotor disease" EXACT [MONDO:design_pattern] synonym: "ataxia, adult-onset, with oculomotor apraxia" RELATED [OMIM:208920] synonym: "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia" RELATED [MONDO:Lexical, OMIM:208920] synonym: "ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia; EAOH" RELATED [OMIM:208920] @@ -162079,6 +163603,7 @@ synonym: "EAOH" RELATED [MONDO:Lexical, OMIM:208920] synonym: "early-onset ataxia with oculomotor apraxia and hypoalbuminemia" RELATED [GARD:0009283] synonym: "early-onset cerebellar ataxia with hypoalbuminemia" RELATED [GARD:0009283] synonym: "EOCA-HA" RELATED [GARD:0009283] +synonym: "oculomotor apraxia or related oculomotor disease caused by mutation in APTX" EXACT [MONDO:design_pattern] xref: DOID:0050754 {source="MONDO:equivalentTo"} xref: GARD:0009283 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G11.3 {source="ORDO:1168/ntbt", source="Orphanet:1168", source="ORDO:1168/attributed"} @@ -162180,7 +163705,7 @@ xref: OMIM:209500 {source="Orphanet:86819", source="ORDO:86819/e", source="DOID: xref: Orphanet:86819 {source="OMIM:209500", source="DOID:0060689", source="MONDO:equivalentTo"} xref: SCTID:715963002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1859592 {source="NCBI:mim2gene_medline", source="OMIM:209500", source="Orphanet:86819", source="MONDO:equivalentTo"} -is_a: MONDO:0004907 {source="DOID:0060689", source="MESH:C565924", source="Orphanet:86819", source="linkedlifedata"} ! alopecia +is_a: MONDO:0004907 {source="DOID:0060689", source="MESH:C565924", source="Orphanet:86819", source="linkedlifedata", source="linkedlifedata/inferred"} ! alopecia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5172 {source="mim2gene_medgen"} ! HR property_value: confidence "30.666666666666668" xsd:double @@ -162370,7 +163895,7 @@ xref: UMLS:C2936862 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000820", sour xref: UMLS:C3150127 {source="MONDO:directSiblingOf", source="OMIM:209900"} xref: UMLS:C3714980 {source="MONDO:directSiblingOf", source="OMIM:209900"} xref: UMLS:C3806174 {source="MONDO:directSiblingOf", source="OMIM:209900"} -is_a: MONDO:0015229 {source="DC-OMIM:209900", source="DOID:0110123", source="MESH:C537909", source="MONDO:Redundant", source="OMIM:209900"} ! Bardet-Biedl syndrome +is_a: MONDO:0015229 {source="DC-OMIM:209900", source="DOID:0110123", source="EFO:0009021", source="MESH:C537909", source="MONDO:Redundant", source="OMIM:209900"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10671 ! SDCCAG8 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13210 ! ARL6 @@ -162425,10 +163950,9 @@ synonym: "MHC class II expression deficiency" EXACT [Orphanet:572] synonym: "SCID due to absent class II HLA antigens" EXACT [DOID:5812] synonym: "SCID due to absent class II HLA antigens (disorder)" EXACT [DOID:5812, SCTID:71904008] synonym: "SCID, HLA Class 2-negative" RELATED [GARD:0000824, MESH:C537079] -synonym: "SCID, HLA Class II-negative" RELATED [MESH:C537079] -synonym: "SCID, HLA Class Ii-negative" RELATED [OMIM:209920] +synonym: "SCID, HLA Class II-negative" RELATED [MESH:C537079, OMIM:209920] synonym: "SCID, HLA CLASS II-NEGATIVE BARE lymphocyte syndrome, type II, complementation group A, included" RELATED [MESH:C537079] -synonym: "Severe combined immunodeficiency, HLA Class Ii-negative" RELATED [OMIM:209920] +synonym: "Severe combined immunodeficiency, HLA Class II-negative" RELATED [OMIM:209920] synonym: "Severe combined immunodeficiency, HLA class ii-negative" RELATED [GARD:0000824, MESH:C537079] xref: DOID:5812 {source="MONDO:equivalentTo"} xref: GARD:0000824 {source="MONDO:equivalentTo"} @@ -162576,6 +164100,7 @@ synonym: "3-METHYLCROTONYL-CoA carboxylase 1 deficiency" RELATED [MESH:C535308] synonym: "3-Methylcrotonyl-Coa carboxylase 1 deficiency" EXACT [MONDO:Lexical, OMIM:210200] synonym: "3-METHYLCROTONYL-CoA carboxylase 1 deficiency; MCC1D" RELATED [OMIM:210200] synonym: "3-Methylcrotonyl-Coa carboxylase deficiency" RELATED [MESH:C535308] +synonym: "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC1" EXACT [MONDO:design_pattern] synonym: "3-Methylcrotonyl-Coenzyme A carboxylase deficiency" RELATED [MESH:C535308] synonym: "3-methylcrotonylglycinuria" RELATED [MESH:C535308] synonym: "3-methylcrotonylglycinuria 1" RELATED [OMIM:210200] @@ -162587,6 +164112,7 @@ synonym: "MCC deficiency" RELATED [MESH:C535308] synonym: "MCC1 deficiency" RELATED [MESH:C535308] synonym: "Mcc1 deficiency" RELATED [OMIM:210200] synonym: "MCC1D" RELATED [MESH:C535308, MONDO:Lexical, OMIM:210200] +synonym: "MCCC1 3-methylcrotonyl-CoA carboxylase deficiency" EXACT [MONDO:design_pattern] synonym: "MCCD type 1" RELATED [MESH:C535308] synonym: "Mccd type 1" RELATED [OMIM:210200] synonym: "methylcrotonoyl-CoA carboxylase 1 deficiency" RELATED [MESH:C535308] @@ -162601,7 +164127,7 @@ xref: UMLS:C0268600 {source="OMIM:210200", source="MONDO:subClassOf", source="GA xref: UMLS:CN028786 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0004739 {source="MESH:C535308"} ! urea cycle disorder is_a: MONDO:0018950 {source="OMIM:210200", source="ORDO:6/btnt"} ! 3-methylcrotonyl-CoA carboxylase deficiency -is_a: MONDO:0019052 ! inborn errors of metabolism +is_a: MONDO:0019052 {source="MESH:C535308/inferred"} ! inborn errors of metabolism intersection_of: MONDO:0018950 ! 3-methylcrotonyl-CoA carboxylase deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6936 ! MCCC1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6936 {source="mim2gene_medgen"} ! MCCC1 @@ -162616,10 +164142,12 @@ synonym: "3 alpha methylcrotonyl-CoA carboxylase 2 deficiency" RELATED [GARD:000 synonym: "3 alpha methylcrotonylglycinuria 2" RELATED [GARD:0009151] synonym: "3-Methylcrotonyl-CoA carboxylase 2 deficiency" EXACT [MONDO:Lexical, OMIM:210210] synonym: "3-METHYLCROTONYL-CoA carboxylase 2 deficiency; MCC2D" RELATED [OMIM:210210] +synonym: "3-methylcrotonyl-CoA carboxylase deficiency caused by mutation in MCCC2" EXACT [MONDO:design_pattern] synonym: "3-methylcrotonylglycinuria 2" RELATED [OMIM:210210] synonym: "MCC 2 deficiency" RELATED [GARD:0009151] synonym: "MCC2 deficiency" RELATED [OMIM:210210] synonym: "MCC2D" RELATED [MONDO:Lexical, OMIM:210210] +synonym: "MCCC2 3-methylcrotonyl-CoA carboxylase deficiency" EXACT [MONDO:design_pattern] synonym: "methylcrotonylglycinuria type 2" RELATED [GARD:0009151] synonym: "methylcrotonylglycinuria, type 2" RELATED [OMIM:210210] xref: GARD:0009151 {source="OMIM-shared", source="MONDO:equivalentTo"} @@ -162722,6 +164250,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10050/bietti- id: MONDO:0008866 name: bifid nose, autosomal recessive def: "Autosomal recessive form of bifid nose." [MONDO:patterns/autosomal_recessive] +synonym: "autosomal recessive bifid nose" EXACT [MONDO:design_pattern] synonym: "bifid nose, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:210400] synonym: "Median fissure of Nose" RELATED [OMIM:210400] synonym: "Nose, Median cleft of" RELATED [OMIM:210400] @@ -162787,6 +164316,7 @@ is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease id: MONDO:0008869 name: Seckel syndrome 1 def: "Any Seckel syndrome in which the cause of the disease is a mutation in the ATR gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ATR Seckel syndrome" EXACT [MONDO:design_pattern] synonym: "Bird-headed dwarfism" RELATED [OMIM:210600] synonym: "microcephalic primordial dwarfism 1" RELATED [OMIM:210600] synonym: "microcephalic primordial dwarfism I" EXACT [DOID:0070007] @@ -162796,6 +164326,7 @@ synonym: "SCKL1" EXACT [DOID:0070007, MONDO:Lexical, OMIM:210600] synonym: "Seckel syndrome 1" EXACT [MONDO:Lexical, OMIM:210600] synonym: "Seckel syndrome 1; SCKL1" RELATED [OMIM:210600] synonym: "Seckel syndrome 3" EXACT [OMIM:210600] +synonym: "Seckel syndrome caused by mutation in ATR" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 1" EXACT [MONDORULE:1, OMIM:210600] synonym: "Seckel-type dwarfism" RELATED [OMIM:210600] xref: DOID:0070007 {source="MONDO:equivalentTo"} @@ -162857,7 +164388,7 @@ xref: Orphanet:2636 {source="OMIM:210710", source="DOID:0060608", source="MONDO: xref: SCTID:254102008 {source="MONDO:kboom-pr-1.00/0.79/8.50", source="MONDO:equivalentTo"} xref: UMLS:C1859452 {source="NCBI:mim2gene_medline", source="OMIM:210710"} is_a: MONDO:0000060 {source="DC-OMIM:210710", source="MONDO:Entailed"} ! microcephalic osteodysplastic primordial dwarfism -is_a: MONDO:0005516 {source="DOID:0060608", source="linkedlifedata"} ! osteochondrodysplasia +is_a: MONDO:0005516 {source="DOID:0060608", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0016994 {source="ORDO:2636/btnt"} ! microcephalic osteodysplastic primordial dwarfism types i and III intersection_of: MONDO:0000060 ! microcephalic osteodysplastic primordial dwarfism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/34016 ! RNU4ATAC @@ -162892,7 +164423,7 @@ xref: Orphanet:2637 {source="DOID:0060609", source="OMIM:210720", source="MONDO: xref: SCTID:254103003 {source="MONDO:kboom-pr-1.00/0.79/8.04", source="MONDO:equivalentTo"} xref: UMLS:C0432246 {source="NCBI:mim2gene_medline", source="Orphanet:2637", source="OMIM:210720"} is_a: MONDO:0000060 {source="DC-OMIM:210720"} ! microcephalic osteodysplastic primordial dwarfism -is_a: MONDO:0005516 {source="DOID:0060609", source="MESH:C565898", source="linkedlifedata"} ! osteochondrodysplasia +is_a: MONDO:0005516 {source="DOID:0060609", source="MESH:C565898", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0016565 {source="Orphanet:2637"} ! syndromic obesity is_a: MONDO:0017950 {source="Orphanet:2637"} ! microcephalic primordial dwarfism is_a: MONDO:0018792 {source="Orphanet:2637"} ! Moyamoya syndrome @@ -162990,7 +164521,7 @@ xref: Orphanet:125 {source="OMIM:210900", source="DOID:2717", source="MONDO:equi xref: SCTID:4434006 {source="DOID:2717", source="MONDO:kboom-pr-1.00/0.79/8.32", source="MONDO:equivalentTo"} xref: UMLS:C0005859 {source="Orphanet:125", source="NCBI:mim2gene_medline", source="OMIM:210900", source="DOID:2717", source="ORDO:125/e", source="NCIT:C2903", source="MONDO:equivalentTo"} is_a: MONDO:0006025 {source="DOID:2717"} ! autosomal recessive disease -is_a: MONDO:0015329 {source="Orphanet:125"} ! malformation syndrome with short stature +is_a: MONDO:0015329 {source="Orphanet:125", source="linkedlifedata/inferred"} ! malformation syndrome with short stature is_a: MONDO:0015707 {source="Orphanet:125"} ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies is_a: MONDO:0015945 {source="Orphanet:125"} ! polymalformative genetic syndrome with increased risk of developing cancer is_a: MONDO:0015951 {source="Orphanet:125"} ! genetic photodermatosis @@ -163139,19 +164670,19 @@ is_a: MONDO:0003847 ! inherited genetic disease [Term] id: MONDO:0008884 -name: Oculoosteocutaneous syndrome +name: oculoosteocutaneous syndrome def: "Oculoosteocutaneous syndrome is characterised by congenital anodontia, a small maxilla, short stature with shortened metacarpals and metatarsals, sparse hair, albinoidism and multiple ocular anomalies. It has been described in three siblings (one brother and two sisters). Transmission is autosomal recessive." [Orphanet:2713] subset: ordo_malformation_syndrome {source="Orphanet:2713"} synonym: "anodontia-hypotrichosis syndrome" RELATED [OMIM:211370] synonym: "BRACHYMETAPODY-anodontia-hypotrichosis-ALBINOIDISM" RELATED [OMIM:211370] -synonym: "Oculoosteocutaneous syndrome" EXACT [OMIM:211370] +synonym: "oculoosteocutaneous syndrome" EXACT [OMIM:211370] xref: ICD10:Q87.5 {source="ORDO:2713/attributed", source="ORDO:2713/ntbt", source="Orphanet:2713"} xref: MESH:C565893 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:211370 {source="Orphanet:2713", source="ORDO:2713/e", source="MONDO:equivalentTo"} xref: Orphanet:2713 {source="MONDO:equivalentTo", source="OMIM:211370"} xref: SCTID:722061006 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C1859385 {source="NCBI:mim2gene_medline", source="Orphanet:2713", source="MONDO:equivalentTo", source="OMIM:211370"} -is_a: MONDO:0019287 {source="Orphanet:2713", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="Orphanet:2713", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome property_value: confidence "9.0" xsd:double [Term] @@ -163313,8 +164844,10 @@ synonym: "Brown-Vialetto-Van Laere syndrome 1" RELATED [MONDO:Lexical, OMIM:2115 synonym: "Brown-Vialetto-Van Laere syndrome type 1" EXACT [MONDORULE:1, OMIM:211530] synonym: "BVVLS" RELATED [GARD:0009993] synonym: "BVVLS1" RELATED [MONDO:Lexical, OMIM:211530] +synonym: "disorder of riboflavin transmembrane transporter activity" EXACT [MONDO:design_pattern] synonym: "pontobulbar palsy and neurosensory deafness" RELATED [GARD:0009993] synonym: "progressive bulbar palsy with sensorineural deafness" RELATED [GARD:0009993] +synonym: "riboflavin transmembrane transporter activity disease" EXACT [MONDO:design_pattern] synonym: "sensorineural hearing loss-pontobulbar palsy syndrome" EXACT [Orphanet:97229] xref: GARD:0009993 {source="Orphanet-shared", source="MONDO:equivalentTo"} xref: ICD10:G12.1 {source="Orphanet:97229", source="ORDO:97229/ntbt", source="ORDO:97229/attributed"} @@ -163397,7 +164930,7 @@ xref: SCTID:722379001 {source="MONDO:kboom-pr-1.00/0.75/7.08", source="MONDO:equ xref: UMLS:C0796282 {source="NCBI:mim2gene_medline", source="OMIM:211770", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="Orphanet:1375"} is_a: MONDO:0015218 {source="Orphanet:1375"} ! syndromic developmental defect of the eye is_a: MONDO:0015983 {source="Orphanet:1375"} ! rare genetic syndromic intellectual disability -is_a: MONDO:0019280 {source="MESH:C537959", source="Orphanet:1375", source="linkedlifedata"} ! hypertrichosis (disease) +is_a: MONDO:0019280 {source="MESH:C537959", source="Orphanet:1375", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypertrichosis (disease) is_a: MONDO:0019287 {source="Orphanet:1375"} ! ectodermal dysplasia syndrome is_a: MONDO:0020225 {source="Orphanet:1375"} ! syndromic cataract property_value: confidence "7.125" xsd:double @@ -163608,6 +165141,7 @@ synonym: "alveolar cell carcinoma" RELATED [OMIM:211980] synonym: "cancer of lung" EXACT [MONDO:patterns/cancer] synonym: "lung cancer" EXACT [MONDO:patterns/location] synonym: "lung cancer, protection against" RELATED [OMIM:211980] +synonym: "lung neoplasm" RELATED [DOID:1324] synonym: "malignant lung neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant lung tumor" EXACT [NCIT:C7377] synonym: "malignant neoplasm of lung" EXACT [MONDO:patterns/cancer, NCIT:C7377] @@ -163649,7 +165183,7 @@ xref: UMLS:C0153493 {source="DOID:1324"} xref: UMLS:C0242379 {source="NCIT:C7377"} xref: UMLS:C0684249 {source="NCBI:mim2gene_medline", source="OMIM:211980", source="MONDO:superClassOf"} xref: UMLS:C1968897 {source="OMIM:211980"} -is_a: MONDO:0000376 {source="DOID:1324", source="MONDO:Entailed", source="linkedlifedata"} ! respiratory system cancer +is_a: MONDO:0000376 {source="DOID:1324", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system cancer is_a: MONDO:0003274 {source="MONDO:Entailed", source="NCIT:C7377", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! thoracic cancer is_a: MONDO:0021117 {source="MONDO:Entailed", source="NCIT:C7377", source="OWLReasoner:2017"} ! lung neoplasm intersection_of: MONDO:0004992 ! cancer @@ -163755,7 +165289,7 @@ xref: Orphanet:79318 {source="OMIM:212065", source="MONDO:equivalentTo"} xref: SCTID:459063003 {source="MONDO:equivalentTo"} xref: UMLS:C0349653 {source="NCIT:C126868", source="NCBI:mim2gene_medline", source="Orphanet:79318", source="MEDGEN:kboom-pr98-c99", source="OMIM:212065", source="MONDO:equivalentTo"} is_a: MONDO:0005500 {source="DC-OMIM:212065", source="MONDOLEX:0008907"} ! congenital disorder of glycosylation type I -is_a: MONDO:0015286 {source="MESH:C535739", source="MONDO:0008907/inferred", source="MONDO:Redundant", source="MONDOLEX:0008907/inferred", source="OMIM:212065", source="Orphanet:79318/inferred"} ! congenital disorder of glycosylation +is_a: MONDO:0015286 {source="MESH:C535739", source="MONDO:0008907/inferred", source="MONDO:Redundant", source="MONDOLEX:0008907/inferred", source="NCIT:C126868", source="OMIM:212065", source="Orphanet:79318/inferred", source="linkedlifedata/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79318"} ! disorder of protein N-glycosylation is_a: MONDO:0018286 {source="Orphanet:79318"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature is_a: MONDO:0018287 {source="Orphanet:79318"} ! congenital disorder of glycosylation with epilepsy as a major feature @@ -163776,7 +165310,7 @@ synonym: "carbohydrate-deficient glycoprotein syndrome, type II" RELATED [OMIM:2 synonym: "carbohydrate-deficient glycoprotein syndrome, type II, formerly" RELATED [OMIM:212066] synonym: "carbohydrate-deficient glycoprotein syndrome, type II, formerly; CDGS2, formerly" RELATED [GARD:0009828] synonym: "CDG 2A" RELATED [GARD:0009828] -synonym: "CDG Iia" RELATED [OMIM:212066] +synonym: "CDG IIa" RELATED [OMIM:212066] synonym: "CDG syndrome type IIa" EXACT [Orphanet:79329] synonym: "CDG-IIa" EXACT [Orphanet:79329] synonym: "CDG2A" EXACT [MONDO:Lexical, OMIM:212066, Orphanet:79329] @@ -163804,12 +165338,12 @@ property_value: confidence "12.055555555555557" xsd:double [Term] id: MONDO:0008909 -name: congenital disorder of glycosylation, type i/Iix +name: congenital disorder of glycosylation, type i/IIx subset: gard_rare {source="GARD:0009840"} synonym: "CDG X" RELATED [GARD:0009840] synonym: "CDG-X" RELATED [OMIM:212067] synonym: "congenital disorder of glycosylation type I/IIX" RELATED [GARD:0009840] -synonym: "congenital disorder of glycosylation, type i/Iix" EXACT [OMIM:212067] +synonym: "congenital disorder of glycosylation, type i/IIx" EXACT [OMIM:212067] xref: GARD:0009840 {source="MONDO:equivalentTo"} xref: MESH:C562844 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:212067 {source="MONDO:equivalentTo"} @@ -163930,8 +165464,8 @@ xref: OMIM:212135 {source="ORDO:1354/e", source="GARD:0002613", source="Orphanet xref: Orphanet:1354 {source="OMIM:212135", source="MONDO:equivalentTo"} xref: SCTID:721009008 {source="MONDO:equivalentTo"} xref: UMLS:C1859327 {source="NCBI:mim2gene_medline", source="ORDO:1354/e", source="GARD:0002613", source="OMIM:212135", source="Orphanet:1354", source="MONDO:equivalentTo"} -is_a: MONDO:0005453 {source="MESH:C535850", source="MONDOLEX:0008917", source="SCTID:721009008", source="linkedlifedata"} ! congenital heart disease -is_a: MONDO:0006025 {source="SCTID:721009008", source="linkedlifedata"} ! autosomal recessive disease +is_a: MONDO:0005453 {source="MESH:C535850", source="MONDOLEX:0008917", source="linkedlifedata"} ! congenital heart disease +is_a: MONDO:0006025 {source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015161 {source="Orphanet:1354"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:1354", source="Orphanet:1354/inferred"} ! rare genetic developmental defect during embryogenesis is_a: MONDO:0043008 {source="Orphanet:1354"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability @@ -164039,7 +165573,7 @@ xref: SCTID:410052008 {source="MONDO:kboom-pr-0.89/0.76/0.23", source="MONDO:equ xref: UMLS:C0268632 {source="Orphanet:1361", source="MONDO:subClassOf", source="ORDO:1361/e"} xref: UMLS:C3495554 {source="Orphanet:1361", source="MONDO:subClassOf", source="OMIM:212200"} xref: UMLS:C3495555 {source="Orphanet:1361", source="NCBI:mim2gene_medline", source="NCIT:C125661", source="OMIM:212200", source="MONDO:equivalentTo"} -is_a: MONDO:0005066 {source="MONDO:Redundant", source="NCIT:C125661", source="Orphanet:1361/inferred", source="linkedlifedata"} ! metabolic disease +is_a: MONDO:0005066 {source="MONDO:Redundant", source="NCIT:C125661", source="Orphanet:1361/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease is_a: MONDO:0009351 ! homocarnosinosis property_value: confidence "0.009375000000000133" xsd:double @@ -164133,7 +165667,9 @@ synonym: "cataract Hutterite type" RELATED [GARD:0001150] synonym: "cataract, congenital or juvenile" RELATED [OMIM:212500] synonym: "cataract, juvenile, Hutterite type" RELATED [OMIM:212500] synonym: "CTRCT46" EXACT [DOID:0110243] +synonym: "early-onset non-syndromic cataract caused by mutation in LEMD2" EXACT [MONDO:design_pattern] synonym: "juvenilae cataract Hutterite type" EXACT [DOID:0110243] +synonym: "LEMD2 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] xref: DOID:0110243 {source="MONDO:equivalentTo"} xref: GARD:0001150 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110243"} @@ -164144,7 +165680,7 @@ xref: Orphanet:98987 {source="OMIM:212500"} xref: UMLS:C0220721 {source="OMIM:212500"} xref: UMLS:C1876167 {source="OMIM:212500"} xref: UMLS:C2931791 {source="NCBI:mim2gene_medline", source="GARD:0001150"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C538286", source="MONDO:Redundant", source="OMIM:212500"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110243", source="MESH:C538286", source="MONDO:Redundant", source="OMIM:212500"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21244 ! LEMD2 @@ -164436,7 +165972,7 @@ xref: Orphanet:2246 {source="OMIM:213000", source="MONDO:relatedTo", source="MON xref: SCTID:16026008 {source="MONDO:kboom-pr-0.99/0.73/5.21", source="MONDO:equivalentTo"} xref: UMLS:C0266470 {source="NCBI:mim2gene_medline", source="ORDO:1398/e", source="OMIM:213000", source="Orphanet:1398"} xref: UMLS:C0344488 {source="ORDO:1398/e", source="Orphanet:1398"} -is_a: MONDO:0002320 {source="NCIT:C98890"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="NCIT:C98890"} ! congenital nervous system disorder is_a: MONDO:0017114 {source="Orphanet:1398"} ! global cerebellar malformation is_a: MONDO:0019117 {source="OWLReasoner:2017"} ! genetic nervous system disorder property_value: confidence "4.175" xsd:double @@ -164496,6 +166032,7 @@ name: autosomal recessive spinocerebellar ataxia 2 def: "The disorders involving primarily the cerebellar parenchyma have been classified into six forms. In cerebelloparenchymal disorder III, cerebellar ataxia is congenital (non-progressive) and characterized by cerebellar symptoms such as incoordination of gait often associated with poor coordination of hands, speech and eye movements. The other features are congenital mental retardation and hypotonia, in addition to other neurological and non-neurological features. MRI or CT scan show marked atrophy of the vermis and hemispheres. A severe loss of granule cells with heterotopic Purkinje cells is observed. The mode of inheritance in the few reported families is autosomal recessive. In one family, cerebellar ataxia was associated to albinism.: In a large inbred Lebanese family the disease locus was assigned to a 12.1-cM interval on chromosome 9q34-qter between markers D9S67 and D9S312. The primary biochemical defect remains unknown. Up to now, the only treatment has consisted in early interventional therapies including intensive speech therapy and adequate stimulation and/or training." [Orphanet:1170] subset: ordo_disease {source="Orphanet:1170"} synonym: "autosomal recessive cerebelloparenchymal disorder type 3" RELATED [Orphanet:1170] +synonym: "autosomal recessive congenital cerebellar ataxia caused by mutation in PMPCA" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spinocerebellar ataxia type 2" EXACT [DOID:0080061, MONDORULE:1, Orphanet:1170] synonym: "cerebellar granular cell hypoplasia and mental retardation, congenital" RELATED [OMIM:213200] synonym: "cerebellar hypoplasia, nonprogressive Norman type" RELATED [OMIM:213200] @@ -164503,6 +166040,7 @@ synonym: "cerebelloparenchymal disorder 3" RELATED [OMIM:213200] synonym: "CPD 3" RELATED [OMIM:213200] synonym: "CPD3" RELATED [GARD:0001199] synonym: "CPDIII" RELATED [GARD:0001199] +synonym: "PMPCA autosomal recessive congenital cerebellar ataxia" EXACT [MONDO:design_pattern] synonym: "SCAR2" EXACT [MONDO:Lexical, OMIM:213200, Orphanet:1170] synonym: "spinocerebellar ataxia, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:213200] synonym: "spinocerebellar ataxia, autosomal recessive 2; SCAR2" RELATED [OMIM:213200] @@ -164530,10 +166068,12 @@ synonym: "cerebelloparenchymal disorder 4" RELATED [OMIM:213300] synonym: "cerebelloparenchymal disorder IV" EXACT [DOID:0110980] synonym: "CORS1" EXACT [DOID:0110980] synonym: "CPD4" EXACT [DOID:0110980] +synonym: "INPP5E Joubert syndrome" EXACT [MONDO:design_pattern] synonym: "JBTS1" EXACT [DOID:0110980, MONDO:Lexical, OMIM:213300] synonym: "Joubert syndrome" RELATED [OMIM:213300] synonym: "Joubert syndrome 1" EXACT [MONDO:Lexical, OMIM:213300] synonym: "Joubert syndrome 1; JBTS1" RELATED [OMIM:213300] +synonym: "Joubert syndrome caused by mutation in INPP5E" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 1" EXACT [DOID:0110980, MONDORULE:1, OMIM:213300] synonym: "Joubert-Boltshauser syndrome" RELATED [OMIM:213300] xref: DOID:0110980 {source="MONDO:equivalentTo"} @@ -164572,7 +166112,7 @@ xref: SCTID:73495003 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:12707 xref: UMLS:C0007761 {source="NCBI:mim2gene_medline", source="DOID:12707", source="MONDO:equivalentTo"} xref: UMLS:C3489626 {source="OMIM:213400"} is_a: MONDO:0000114 {source="DC-OMIM:213400"} ! cerebelloparenchymal disorder -is_a: MONDO:0024237 {source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder +is_a: MONDO:0024237 {source="MESH:D002527/inferred", source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder [Term] id: MONDO:0008946 @@ -164623,7 +166163,7 @@ xref: SCTID:230311004 {source="MONDO:equivalentTo"} xref: UMLS:C0393589 {source="MEDGEN:kboom-pr92-c94", source="MONDO:equivalentTo"} xref: UMLS:C0393590 {source="DOID:0060230", source="MONDO:superClassOf"} xref: UMLS:CN852731 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0003996 {source="DOID:0060230", source="MESH:C536275", source="linkedlife", source="linkedlife/inferred"} ! basal ganglia disease +is_a: MONDO:0003996 {source="DOID:0060230", source="MESH:C536275", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! basal ganglia disease is_a: MONDO:0015547 {source="Orphanet:1980"} ! genetic dementia is_a: MONDO:0017641 {source="MONDO:Redundant", source="Orphanet:1980"} ! miscellaneous movement disorder due to neurodegenerative disease is_a: MONDO:0017662 {source="Orphanet:1980"} ! miscellaneous movement disorder due to genetic neurodegenerative disease @@ -164713,8 +166253,8 @@ subset: ordo_malformation_syndrome {source="Orphanet:1394"} synonym: "cerebro facio thoracic dysplasia" RELATED [GARD:0001210] synonym: "cerebrofaciothoracic dysplasia" EXACT [GARD:0001210, OMIM:213980] synonym: "CFSMR" RELATED [MONDO:Lexical, OMIM:213980] -synonym: "craniofacial DYSMORPHISM, skeletal anomalies, and mental retardation syndrome" RELATED [MONDO:Lexical, OMIM:213980] -synonym: "craniofacial DYSMORPHISM, skeletal anomalies, and mental retardation syndrome; CFSMR" RELATED [OMIM:213980] +synonym: "craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome" RELATED [MONDO:Lexical, OMIM:213980] +synonym: "craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome; CFSMR" RELATED [OMIM:213980] synonym: "pascual-Castroviejo syndrome" RELATED [GARD:0001210] synonym: "pascual-Castroviejo syndrome type 1" EXACT [Orphanet:1394] xref: GARD:0001210 {source="MONDO:equivalentTo"} @@ -164774,7 +166314,9 @@ synonym: "cerebrooculofacioskeletal syndrome 1" EXACT [MONDO:Lexical, OMIM:21415 synonym: "CEREBROOCULOFACIOSKELETAL syndrome 1; COFS1" RELATED [OMIM:214150] synonym: "cerebrooculofacioskeletal syndrome type 1" EXACT [MONDORULE:1, OMIM:214150] synonym: "Cofs syndrome" RELATED [OMIM:214150] +synonym: "COFS syndrome caused by mutation in ERCC6" EXACT [MONDO:design_pattern] synonym: "COFS1" RELATED [MONDO:Lexical, OMIM:214150] +synonym: "ERCC6 COFS syndrome" EXACT [MONDO:design_pattern] synonym: "Pena-Shokeir syndrome, type 2" RELATED [OMIM:214150] xref: OMIM:214150 {source="MONDO:equivalentTo"} xref: Orphanet:1466 {source="OMIM:214150", source="MONDO:subClassOf"} @@ -164820,10 +166362,12 @@ id: MONDO:0008958 name: Klippel-Feil syndrome 2, autosomal recessive def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the MEOX1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cervical vertebral fusion, autosomal recessive" RELATED [OMIM:214300] +synonym: "isolated Klippel-Feil syndrome caused by mutation in MEOX1" EXACT [MONDO:design_pattern] synonym: "Kfs, autosomal recessive" RELATED [OMIM:214300] synonym: "KFS2" RELATED [MONDO:Lexical, OMIM:214300] synonym: "Klippel-Feil syndrome 2, autosomal recessive" EXACT [MONDO:Lexical, OMIM:214300] synonym: "Klippel-FEIL syndrome 2, autosomal recessive; KFS2" RELATED [OMIM:214300] +synonym: "MEOX1 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern] xref: MESH:C536888 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:214300 {source="MONDO:equivalentTo"} xref: Orphanet:2345 {source="MONDO:subClassOf", source="OMIM:214300"} @@ -164877,6 +166421,7 @@ subset: gard_rare {source="GARD:0001252"} subset: ordo_disease {source="Orphanet:99948"} synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4A" EXACT [DOID:0110185] synonym: "Charcot Marie Tooth disease type 4A" RELATED [GARD:0001252] +synonym: "Charcot-Marie-tooth disease type 4 caused by mutation in GDAP1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive" RELATED [OMIM:214400] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4A" RELATED [OMIM:214400] synonym: "Charcot-Marie-Tooth disease, type 4A" RELATED [MONDO:Lexical, OMIM:214400] @@ -164884,6 +166429,7 @@ synonym: "Charcot-Marie-Tooth disease, type 4A; CMT4A" RELATED [OMIM:214400] synonym: "Charcot-Marie-Tooth neuropathy type 4A" EXACT [DOID:0110185] synonym: "Charcot-Marie-Tooth neuropathy, type 4A" RELATED [OMIM:214400] synonym: "CMT4A" EXACT [DOID:0110185, MONDO:Lexical, OMIM:214400, Orphanet:99948] +synonym: "GDAP1 Charcot-Marie-tooth disease type 4" EXACT [MONDO:design_pattern] xref: DOID:0110185 {source="MONDO:equivalentTo"} xref: GARD:0001252 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="DOID:0110185", source="ORDO:99948/attributed", source="ORDO:99948/ntbt", source="Orphanet:99948"} @@ -164892,7 +166438,7 @@ xref: OMIM:214400 {source="DOID:0110185", source="MONDO:equivalentTo", source="O xref: Orphanet:99948 {source="DOID:0110185", source="OMIM:214400", source="MONDO:equivalentTo"} xref: SCTID:715796006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1859198 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:214400", source="MONDO:equivalentTo", source="ORDO:99948/e", source="Orphanet:99948"} -is_a: MONDO:0015626 {source="MESH:C535419", source="MONDO:Redundant", source="OMIM:214400", source="Orphanet:99948/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110185/inferred", source="MESH:C535419", source="MONDO:Redundant", source="OMIM:214400", source="Orphanet:99948/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018995 {source="DOID:0110185", source="Orphanet:99948", source="linkedlifedata"} ! Charcot-Marie-tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-tooth disease type 4 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15968 ! GDAP1 @@ -164996,6 +166542,8 @@ synonym: "DIAR1" RELATED [MONDO:Lexical, OMIM:214700] synonym: "diarrhea 1, secretory chloride, congenital" RELATED [MONDO:Lexical, OMIM:214700] synonym: "diarrhea 1, secretory chloride, congenital; DIAR1" RELATED [OMIM:214700] synonym: "familial chloride diarrhea" RELATED [GARD:0010001] +synonym: "secretory diarrhea caused by mutation in SLC26A3" EXACT [MONDO:design_pattern] +synonym: "SLC26A3 secretory diarrhea" EXACT [MONDO:design_pattern] xref: DOID:0060296 {source="MONDO:equivalentTo"} xref: GARD:0010001 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:P78.3 {source="Orphanet:53689", source="ORDO:53689/attributed", source="ORDO:53689/ntbt"} @@ -165005,7 +166553,7 @@ xref: OMIM:214700 {source="DOID:0060296", source="Orphanet:53689", source="ORDO: xref: Orphanet:53689 {source="DOID:0060296", source="OMIM:214700", source="MONDO:equivalentTo"} xref: SCTID:24412005 {source="DOID:0060296", source="MONDO:kboom-pr-1.00/0.80/10.23", source="MONDO:equivalentTo"} xref: UMLS:C0267662 {source="NCBI:mim2gene_medline", source="DOID:0060296", source="OMIM:214700", source="Orphanet:53689", source="ORDO:53689/e"} -is_a: MONDO:0000249 {source="DOID:0060296", source="linkedlifedata"} ! secretory diarrhea +is_a: MONDO:0000249 {source="DOID:0060296", source="linkedlifedata", source="linkedlifedata/inferred"} ! secretory diarrhea is_a: MONDO:0000824 {source="DC-OMIM:214700", source="MONDOLEX:0008964", source="OMIM:214700"} ! congenital diarrhea is_a: MONDO:0015178 {source="Orphanet:53689"} ! congenital intestinal transport defect intersection_of: MONDO:0000249 ! secretory diarrhea @@ -165043,7 +166591,7 @@ xref: SCTID:394529000 {source="DOID:0050834"} xref: SCTID:47535005 {source="DOID:0050834", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/6.61"} xref: UMLS:C0265354 {source="DOID:0050834", source="NCBI:mim2gene_medline", source="NCIT:C75100", source="OMIM:214800", source="GARD:0000029", source="ORDO:138/e", source="MONDO:equivalentTo", source="Orphanet:138"} xref: UMLS:C2936502 {source="DOID:0050834"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C75100"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050834", source="MONDO:Redundant", source="NCIT:C75100"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:138"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015218 {source="Orphanet:138"} ! syndromic developmental defect of the eye is_a: MONDO:0015501 {source="Orphanet:138"} ! syndrome or malformation associated with head and neck malformations @@ -165087,7 +166635,7 @@ xref: OMIM:214900 {source="ORDO:1414/e", source="Orphanet:1414", source="MONDO:e xref: Orphanet:1414 {source="OMIM:214900", source="MONDO:equivalentTo", source="DOID:6691"} xref: SCTID:28724005 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo", source="DOID:6691"} xref: UMLS:C0268314 {source="NCIT:C35709", source="NCBI:mim2gene_medline", source="OMIM:214900", source="MEDGEN:kboom-pr98-c99", source="Orphanet:1414", source="MONDO:equivalentTo", source="DOID:6691"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35709"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:6691", source="MONDO:Redundant", source="NCIT:C35709"} ! syndromic disease is_a: MONDO:0015507 {source="Orphanet:1414", source="Orphanet:1414/inferred"} ! rare genetic hepatic disease is_a: MONDO:0018722 {source="Orphanet:1414"} ! primary lymphedema with associated anomalies is_a: MONDO:0019520 {source="MONDO:Entailed", source="Orphanet:1414"} ! syndromic lymphedema @@ -165214,8 +166762,10 @@ synonym: "chondrodysplasia punctata, rhizomelic form" RELATED [OMIM:215100] synonym: "chondrodystrophia calcificans punctata" RELATED [OMIM:215100] synonym: "Pbd9" EXACT [DOID:0110851] synonym: "peroxisome biogenesis disorder 9" EXACT [DOID:0110851, OMIM:215100] +synonym: "PEX7 rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern] synonym: "RCDP1" RELATED [MONDO:Lexical, OMIM:215100] synonym: "Rcdp1" EXACT [DOID:0110851] +synonym: "rhizomelic chondrodysplasia punctata caused by mutation in PEX7" EXACT [MONDO:design_pattern] synonym: "rhizomelic chondrodysplasia punctata, type 1" RELATED [MONDO:Lexical, OMIM:215100] synonym: "rhizomelic chondrodysplasia punctata, type 1; RCDP1" RELATED [OMIM:215100] xref: DOID:0110851 {source="MONDO:equivalentTo"} @@ -165315,7 +166865,7 @@ xref: Orphanet:1427 {source="OMIM:215150", source="MONDO:equivalentTo"} xref: SCTID:254060000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0432210 {source="NCBI:mim2gene_medline"} xref: UMLS:C1855310 {source="OMIM:215150"} -is_a: MONDO:0005516 {source="DOID:0080026", source="OMIM:215150", source="OMIM:215150/inferred", source="linkedlifedata"} ! osteochondrodysplasia +is_a: MONDO:0005516 {source="DOID:0080026", source="OMIM:215150", source="OMIM:215150/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0016761 {source="Orphanet:1427"} ! spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia is_a: MONDO:0019686 {source="Orphanet:1427"} ! type 2 collagen-related bone disorder is_a: MONDO:0019687 {source="Orphanet:1427"} ! type 11 collagen-related bone disorder @@ -165361,7 +166911,7 @@ xref: SCTID:443520009 {source="DOID:3371", source="MONDO:equivalentTo", source=" xref: UMLS:C0008479 {source="NCBI:mim2gene_medline", source="Orphanet:55880", source="DOID:3371", source="ORDO:55880/e", source="NCIT:C2946", source="OMIM:215300", source="MONDO:equivalentTo"} xref: UMLS:C1335473 {source="DOID:3371"} is_a: MONDO:0002176 {source="DOID:3371"} ! connective tissue cancer -is_a: MONDO:0005089 {source="EFO:0000333", source="MESH:D002813", source="MONDO:Entailed", source="NCIT:C2946", source="linkedlife"} ! sarcoma +is_a: MONDO:0005089 {source="EFO:0000333", source="MESH:D002813", source="MONDO:Entailed", source="NCIT:C2946", source="linkedlifedata"} ! sarcoma is_a: MONDO:0021581 {source="MESH:D002813"} ! connective tissue neoplasm intersection_of: MONDO:0005089 ! sarcoma intersection_of: disease_arises_from_structure CL:0000138 ! chondrocyte @@ -165483,7 +167033,7 @@ xref: Orphanet:75377 {source="OMIM:215500", source="MONDO:equivalentTo"} xref: SCTID:231996009 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: SCTID:312918002 {source="MONDO:kboom-pr-1.00/0.84/14.92", source="MONDO:equivalentTo"} xref: UMLS:C1536451 {source="Orphanet:75377", source="OMIM:215500"} -is_a: MONDO:0001898 {source="DC:0000084", source="MONDO:Redundant", source="linkedlife", source="linkedlife/inferred"} ! optic choroid disease +is_a: MONDO:0001898 {source="DC:0000084", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! optic choroid disease is_a: MONDO:0015952 {source="OWLReasoner:2017"} ! genetic neurodegenerative disease is_a: MONDO:0020243 {source="Orphanet:75377"} ! colobomatous and areolar dystrophy @@ -165570,7 +167120,7 @@ xref: Orphanet:247525 {source="OMIM:215700", source="MONDO:equivalentTo"} xref: SCTID:398680004 {source="MONDO:kboom-pr-0.70/0.38/0.07", source="MONDO:equivalentTo"} xref: UMLS:C0175683 {source="NCBI:mim2gene_medline", source="OMIM:215700", source="MONDO:subClassOf"} xref: UMLS:C0751751 {source="Orphanet:247525"} -is_a: MONDO:0015991 {source="DC-OMIM:215700", source="Orphanet:247525"} ! citrullinemia +is_a: MONDO:0015991 {source="DC-OMIM:215700", source="NCIT:C150601", source="Orphanet:247525"} ! citrullinemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/758 {source="mim2gene_medgen"} ! ASS1 property_value: confidence "4.312500000000001" xsd:double @@ -165870,7 +167420,9 @@ subset: gard_rare {source="GARD:0009649"} synonym: "ACHM2" EXACT [DOID:0110007, MONDO:Lexical, OMIM:216900] synonym: "achromatopsia 2" EXACT [MONDO:Lexical, OMIM:216900] synonym: "achromatopsia 2; ACHM2" RELATED [OMIM:216900] +synonym: "achromatopsia caused by mutation in CNGA3" EXACT [MONDO:design_pattern] synonym: "achromatopsia type 2" EXACT [DOID:0110007, MONDORULE:1, OMIM:216900] +synonym: "CNGA3 achromatopsia" EXACT [MONDO:design_pattern] synonym: "colorblindness, total" RELATED [OMIM:216900] synonym: "RMCH2" EXACT [DOID:0110007] synonym: "Rod monochromacy 2" RELATED [OMIM:216900] @@ -165918,10 +167470,12 @@ id: MONDO:0009006 name: complement component 2 deficiency def: "Complement component 2 deficiency (C2D) is a genetic condition that affects the immune system. Signs and symptoms include recurrent bacterial infections and risk for a variety of autoimmune conditions . Infections can be very serious and are common in early life. They become less frequent during the teen and adult years. The most frequent autoimmune conditions associated with C2D are lupus (10-20%) and vasculitis. C2D is caused by mutations in the C2 gene and is inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/1452/complement-component-2-deficiency] subset: gard_rare {source="GARD:0001452"} +synonym: "C2 complement deficiency" EXACT [MONDO:design_pattern] synonym: "C2 deficiency" RELATED [OMIM:217000] synonym: "C2D" RELATED [MONDO:Lexical, OMIM:217000] synonym: "complement component 2 deficiency" EXACT [MONDO:Lexical, OMIM:217000] synonym: "complement component 2 deficiency; C2D" RELATED [OMIM:217000] +synonym: "complement deficiency caused by mutation in C2" EXACT [MONDO:design_pattern] xref: DOID:0060295 {source="MONDO:equivalentTo"} xref: GARD:0001452 {source="MONDO:equivalentTo"} xref: ICD10:D84.1 {source="DOID:0060295"} @@ -165930,7 +167484,7 @@ xref: OMIM:217000 {source="DOID:0060295", source="MONDO:equivalentTo"} xref: Orphanet:169147 {source="DOID:0060295", source="MONDO:subClassOf", source="OMIM:217000"} xref: UMLS:C3150275 {source="NCIT:C119992", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:217000"} is_a: MONDO:0000015 {source="DC-OMIM:217000"} ! classic complement early component deficiency -is_a: MONDO:0003832 {source="MONDO:Redundant", source="NCIT:C119992"} ! complement deficiency +is_a: MONDO:0003832 {source="DOID:0060295", source="MONDO:Redundant", source="NCIT:C119992"} ! complement deficiency is_a: MONDO:0015699 {source="ORDO:169147/btnt"} ! immunodeficiency due to a classical component pathway complement deficiency intersection_of: MONDO:0003832 ! complement deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1248 ! C2 @@ -166105,7 +167659,9 @@ synonym: "cornea plana 2" EXACT [MONDO:Lexical, OMIM:217300] synonym: "cornea plana 2, autosomal recessive" RELATED [OMIM:217300] synonym: "cornea plana 2, autosomal recessive; CNA2" RELATED [OMIM:217300] synonym: "cornea plana 2; CNA2" RELATED [OMIM:217300] +synonym: "cornea plana caused by mutation in KERA" EXACT [MONDO:design_pattern] synonym: "cornea plana type 2" EXACT [MONDORULE:1, OMIM:217300] +synonym: "KERA cornea plana" EXACT [MONDO:design_pattern] xref: MESH:C565677 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:217300 {source="MONDO:equivalentTo"} xref: Orphanet:53691 {source="OMIM:217300", source="MONDO:subClassOf"} @@ -166159,7 +167715,7 @@ xref: NCIT:C118765 {source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:11164" xref: OMIM:217500 {source="DOID:11164", source="MONDO:equivalentTo"} xref: SCTID:35055000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11164", source="MONDO:equivalentTo"} xref: UMLS:C0155120 {source="NCBI:mim2gene_medline", source="OMIM:217500", source="NCIT:C118765", source="DOID:11164", source="MONDO:equivalentTo"} -is_a: MONDO:0001515 {source="DOID:11164", source="linkedlifedata"} ! corneal degeneration +is_a: MONDO:0001515 {source="DOID:11164", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal degeneration is_a: MONDO:0002261 {source="NCIT:C118765"} ! keratopathy is_a: MONDO:0018102 {source="DC-OMIM:217500", source="MESH:C562399"} ! corneal dystrophy (disease) @@ -166268,7 +167824,7 @@ xref: SCTID:60258001 {source="DOID:2565", source="MONDO:kboom-pr-0.84/0.62/0.41" xref: UMLS:C0024439 {source="DOID:2565", source="ORDO:98969/e", source="NCIT:C34793", source="MONDO:equivalentTo", source="Orphanet:98969"} xref: UMLS:C1636149 {source="NCBI:mim2gene_medline", source="OMIM:217800", source="Orphanet:98969"} xref: UMLS:C1691013 {source="OMIM:217800"} -is_a: MONDO:0018102 {source="MONDO:Redundant", source="NCIT:C34793", source="Orphanet:98969/inferred", source="linkedlifedata"} ! corneal dystrophy (disease) +is_a: MONDO:0018102 {source="DOID:2565/inferred", source="MONDO:Redundant", source="NCIT:C34793", source="Orphanet:98969/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal dystrophy (disease) is_a: MONDO:0020213 {source="DOID:2565", source="Orphanet:98969", source="linkedlifedata"} ! stromal corneal dystrophy is_a: MONDO:0020242 ! genetic macular dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6938 {source="mim2gene_medgen"} ! CHST6 @@ -166317,7 +167873,7 @@ xref: OMIM:217990 {source="MONDO:equivalentTo"} xref: Orphanet:200 {source="OMIM:217990"} xref: SCTID:5102002 {source="MONDO:kboom-pr-0.75/0.37/0.58", source="MONDO:equivalentTo"} xref: UMLS:C0175754 {source="NCBI:mim2gene_medline", source="NCIT:C98905", source="OMIM:217990"} -is_a: MONDO:0002320 {source="NCIT:C98905"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="NCIT:C98905"} ! congenital nervous system disorder is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease [Term] @@ -166375,11 +167931,11 @@ xref: UMLS:C1415737 {source="OMIM:218030"} xref: UMLS:C2936861 {source="NCBI:mim2gene_medline", source="Orphanet:320", source="MEDGEN:kboom-pr87-c94", source="DOID:0090121", source="ORDO:320/e", source="MONDO:equivalentTo"} xref: UMLS:C3887949 {source="Orphanet:320", source="MONDO:equivalentTo"} xref: UMLS:CN203981 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0006640 {source="DOID:0090121"} ! adrenal gland hyperfunction is_a: MONDO:0015124 {source="Orphanet:320"} ! rare adrenal disease is_a: MONDO:0015512 {source="Orphanet:320"} ! genetic hypertension is_a: MONDO:0015971 {source="MONDO:Entailed", source="Orphanet:320"} ! rare genetic adrenal disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5209 {source="mim2gene_medgen"} ! HSD11B2 +relationship: excluded_subClassOf MONDO:0006640 {source="DOID:0090121"} ! adrenal gland hyperfunction property_value: confidence "30.25" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/433/apparent-mineralocorticoid-excess xsd:anyURI {source="GARD:0000433"} @@ -166530,7 +168086,7 @@ is_a: MONDO:0006025 {source="DOID:0050577"} ! autosomal recessive disease is_a: MONDO:0015338 {source="Orphanet:1515"} ! syndromic craniosynostosis is_a: MONDO:0015461 {source="Orphanet:1515"} ! short rib-polydactyly syndrome is_a: MONDO:0015962 {source="Orphanet:1515"} ! inherited renal tubular disease -is_a: MONDO:0019287 {source="MONDOLEX:0009032", source="Orphanet:1515", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MONDOLEX:0009032", source="Orphanet:1515", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0019744 {source="Orphanet:1515"} ! rare renal tubular disease property_value: confidence "2.47142857142857" xsd:double @@ -166590,6 +168146,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1575/craniofa id: MONDO:0009035 name: craniometaphyseal dysplasia, autosomal recessive def: "Autosomal recessive form of craniometaphyseal dysplasia." [MONDO:patterns/autosomal_recessive] +synonym: "autosomal recessive craniometaphyseal dysplasia" EXACT [MONDO:design_pattern] synonym: "CMDR" RELATED [MONDO:Lexical, OMIM:218400] synonym: "craniometaphyseal dysplasia, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:218400] synonym: "craniometaphyseal dysplasia, autosomal recessive type" RELATED [GARD:0001582] @@ -166753,6 +168310,7 @@ synonym: "bilirubin uridinediphosphate glucuronosyltransferase deficiency" EXACT synonym: "bilirubin-UGT deficiency" EXACT [Orphanet:205] synonym: "Crigler Najjar syndrome" EXACT [CSP2005:1654-1020, DOID:3803] synonym: "Crigler-Najjar syndrome" EXACT [OMIM:218800] +synonym: "Crigler-Najjar syndrome, type I" EXACT [DOID:3803] synonym: "hereditary unconjugated hyperbilirubinemia" EXACT [Orphanet:205] synonym: "UGT deficiency" EXACT [Orphanet:205] xref: DOID:3803 {source="MONDO:equivalentTo"} @@ -166865,8 +168423,8 @@ xref: SCTID:268226005 {source="DOID:11383"} xref: SCTID:367721002 {source="DOID:11383"} xref: SCTID:37501009 {source="DOID:11383"} xref: UMLS:C0010417 {source="NCBI:mim2gene_medline", source="OMIM:219050", source="DOID:11383", source="NCIT:C12326"} -is_a: MONDO:0000839 {source="DOID:11383"} ! physical disorder -is_a: MONDO:0003150 {source="MESH:D003456/inferred", source="MONDO:Entailed", source="NCIT:C12326/inferred", source="OWLReasoner:2017"} ! male reproductive system disease +is_a: MONDO:0000839 {source="DOID:11383"} ! congenital abnormality +is_a: MONDO:0003150 {source="MESH:D003456/inferred", source="MONDO:Entailed", source="NCIT:C12326/inferred", source="OWLReasoner:2017", source="linkedlifedata/inferred"} ! male reproductive system disease is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17318 {source="mim2gene_medgen"} ! RXFP2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6086 {source="mim2gene_medgen"} ! INSL3 @@ -166923,8 +168481,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10824/acth-in [Term] id: MONDO:0009050 -name: ACTH-secreting pituitary adenoma -def: "Cushing disease (CD) is the most common cause of endogenous Cushing syndrome (CS; see this term) and is due to pituitary chronic over-secretion of ACTH by a pituitary corticotroph adenoma." [Orphanet:96253] +name: Cushing disease due to pituitary adenoma subset: gard_rare {source="GARD:0012867"} subset: ordo_disease {source="Orphanet:96253"} synonym: "ACTH producing pituitary adenoma" EXACT [NCIT:C113210] @@ -166959,8 +168516,7 @@ xref: UMLS:C0010481 {source="Orphanet:96253", source="MONDO:subClassOf"} xref: UMLS:C0221406 {source="ORDO:96253/e", source="OMIM:219090", source="NCBI:mim2gene_medline", source="Orphanet:96253", source="NCIT:C113210", source="MONDO:equivalentTo"} xref: UMLS:C1306214 {source="OMIM:219090", source="DOID:7004", source="MONDO:equivalentTo"} is_a: MONDO:0003429 {source="DOID:7004", source="MONDOLEX:0009050", source="Orphanet:96253"} ! functioning pituitary gland adenoma -is_a: MONDO:0006373 {source="MONDO:0009050/inferred", source="MONDO:Redundant", source="MONDOLEX:0009050/inferred", source="OMIM:219090", source="Orphanet:96253/inferred", source="linkedlifedata"} ! pituitary gland adenoma -is_a: MONDO:0016517 {source="OWLReasoner:2017"} ! rare genetic vascular disease +is_a: MONDO:0006373 {source="DOID:7004/inferred", source="MONDO:0009050/inferred", source="MONDO:Redundant", source="MONDOLEX:0009050/inferred", source="OMIM:219090", source="Orphanet:96253/inferred", source="linkedlifedata"} ! pituitary gland adenoma is_a: MONDO:0020528 {source="Orphanet:96253"} ! ACTH-dependent Cushing syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12631 {source="mim2gene_medgen"} ! USP8 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/358 {source="mim2gene_medgen"} ! AIP @@ -167001,8 +168557,8 @@ xref: Orphanet:90349 {source="MONDO:subClassOf", source="OMIM:219100"} xref: SCTID:59451000 {source="MONDO:equivalentTo"} xref: UMLS:C0268351 {source="OMIM:219100"} xref: UMLS:CN033664 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016175 {source="MONDO:Redundant", source="OMIM:219100", source="OMIM:219100/inferred"} ! cutis laxa -is_a: MONDO:0019572 {source="MONDOLEX:0009052", source="ORDO:90349/btnt"} ! autosomal recessive cutis laxa type 1 +is_a: MONDO:0016175 {source="DOID:0070135/inferred", source="MESH:C562628", source="MONDO:Redundant", source="OMIM:219100", source="OMIM:219100/inferred", source="linkedlifedata/inferred"} ! cutis laxa +is_a: MONDO:0019572 {source="DOID:0070135", source="MONDOLEX:0009052", source="ORDO:90349/btnt"} ! autosomal recessive cutis laxa type 1 intersection_of: MONDO:0016175 ! cutis laxa intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3327 ! ELN intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance @@ -167035,8 +168591,8 @@ xref: Orphanet:2962 {source="OMIM:219150", source="MONDO:subClassOf"} xref: Orphanet:35664 {source="DOID:0070132", source="OMIM:219150", source="MONDO:equivalentTo"} xref: SCTID:59252009 {source="MONDO:kboom-pr-0.67/0.31/0.16", source="MONDO:equivalentTo"} xref: UMLS:C0268354 {source="NCBI:mim2gene_medline", source="OMIM:219150"} -is_a: MONDO:0016175 {source="MONDO:Redundant", source="OMIM:219150", source="Orphanet:35664/inferred", source="linkedlifedata"} ! cutis laxa -is_a: MONDO:0017569 {source="MONDOLEX:0009053", source="Orphanet:35664"} ! de Barsy syndrome +is_a: MONDO:0016175 {source="DOID:0070132/inferred", source="MONDO:Redundant", source="OMIM:219150", source="Orphanet:35664/inferred", source="linkedlifedata"} ! cutis laxa +is_a: MONDO:0017569 {source="DOID:0070132", source="MONDOLEX:0009053", source="Orphanet:35664"} ! de Barsy syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9722 {source="mim2gene_medgen"} ! ALDH18A1 property_value: confidence "8.333333333333332" xsd:double @@ -167077,7 +168633,7 @@ xref: Orphanet:357058 {source="MONDO:subClassOf", source="OMIM:219200"} xref: Orphanet:357074 {source="DOID:0070141", source="MONDO:equivalentTo", source="OMIM:219200"} xref: SCTID:73856006 {source="MONDO:kboom-pr-1.00/0.79/8.41", source="MONDO:equivalentTo"} xref: UMLS:C0268355 {source="NCBI:mim2gene_medline", source="OMIM:219200"} -is_a: MONDO:0016175 {source="DOID:0070141", source="MESH:C562632", source="OMIM:219200", source="Orphanet:357074/inferred", source="linkedlife"} ! cutis laxa +is_a: MONDO:0016175 {source="DOID:0070136/inferred", source="DOID:0070141", source="MESH:C562632", source="OMIM:219200", source="Orphanet:357074/inferred", source="linkedlifedata"} ! cutis laxa is_a: MONDO:0018163 {source="MONDOLEX:0009054", source="Orphanet:357074"} ! autosomal recessive cutis laxa type 2A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18481 {source="mim2gene_medgen"} ! ATP6V0A2 property_value: confidence "2.7853823405154197" xsd:double @@ -167103,7 +168659,7 @@ xref: Orphanet:1556 {source="OMIM:219250", source="MONDO:equivalentTo"} xref: SCTID:254778000 {source="MONDO:kboom-pr-1.00/0.80/9.53", source="MONDO:equivalentTo"} xref: UMLS:C0345419 {source="NCBI:mim2gene_medline", source="OMIM:219250", source="Orphanet:1556", source="ORDO:1556/e"} is_a: MONDO:0016231 {source="Orphanet:1556"} ! capillary malformation -is_a: MONDO:0019293 {source="Orphanet:1556"} ! skin vascular disease +is_a: MONDO:0019293 {source="MESH:C536226", source="Orphanet:1556"} ! skin vascular disease property_value: confidence "8.375" xsd:double [Term] @@ -167152,7 +168708,7 @@ xref: UMLS:C0220993 {source="OMIM:219500", source="Orphanet:212", source="NCBI:m xref: UMLS:C0268616 {source="Orphanet:212", source="MEDGEN:kboom-pr87-c94", source="DOID:0090142", source="ORDO:212/e", source="MONDO:equivalentTo"} xref: UMLS:C3495552 {source="OMIM:219500", source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0004736 {source="DOID:0090142"} ! inherited amino acid metabolic disorder -is_a: MONDO:0019222 {source="Orphanet:212"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism +is_a: MONDO:0019222 {source="Orphanet:212", source="linkedlifedata"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2501 {source="mim2gene_medgen"} ! CTH property_value: confidence "29.158730158730172" xsd:double @@ -167205,7 +168761,7 @@ xref: SCTID:190905008 {source="DOID:1485", source="MONDO:kboom-pr-1.00/0.84/13.9 xref: SCTID:190911006 {source="DOID:1485"} xref: SCTID:85809002 {source="DOID:1485"} xref: UMLS:C0010674 {source="NCIT:C2975", source="DOID:1485", source="Orphanet:586", source="OMIM:219700", source="NCBI:mim2gene_medline", source="ORDO:586/e", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MESH:D003550", source="MONDO:Redundant", source="NCIT:C2975", source="Orphanet:586/inferred"} ! inherited genetic disease +is_a: MONDO:0003847 {source="DOID:1485/inferred", source="MESH:D003550", source="MONDO:Redundant", source="NCIT:C2975", source="Orphanet:586/inferred"} ! inherited genetic disease is_a: MONDO:0006025 {source="DOID:1485"} ! autosomal recessive disease is_a: MONDO:0015112 {source="Orphanet:586"} ! rare pancreatic disease is_a: MONDO:0015118 {source="Orphanet:586"} ! rare pulmonary disease @@ -167324,8 +168880,8 @@ xref: Orphanet:213 {source="OMIM:219900", source="MONDO:subClassOf"} xref: Orphanet:411634 {source="OMIM:219900", source="MONDO:equivalentTo"} xref: SCTID:22830006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0268626 {source="Orphanet:411634", source="NCBI:mim2gene_medline", source="OMIM:219900", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0016239 {source="MESH:C562683", source="Orphanet:411634", source="linkedlifedata"} ! cystinosis -is_a: MONDO:0019743 {source="Orphanet:411634"} ! nephropathy secondary to a storage or other metabolic disease +is_a: MONDO:0016239 {source="EFO:0009049", source="MESH:C562683", source="Orphanet:411634", source="linkedlifedata"} ! cystinosis +is_a: MONDO:0019743 {source="EFO:0009049/inferred", source="Orphanet:411634"} ! nephropathy secondary to a storage or other metabolic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2518 {source="mim2gene_medgen"} ! CTNS property_value: confidence "2.0384615384615383" xsd:double @@ -167373,7 +168929,7 @@ xref: UMLS:C1857390 {source="OMIM:220100"} is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0009067"} ! syndromic disease is_a: MONDO:0004736 {source="DOID:9266"} ! inherited amino acid metabolic disorder is_a: MONDO:0015962 {source="Orphanet:214"} ! inherited renal tubular disease -is_a: MONDO:0019216 {source="Orphanet:214", source="linkedlife"} ! inborn disorder of amino acid absorption and transport +is_a: MONDO:0019216 {source="Orphanet:214", source="linkedlifedata"} ! inborn disorder of amino acid absorption and transport is_a: MONDO:0019744 {source="Orphanet:214"} ! rare renal tubular disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11025 {source="mim2gene_medgen"} ! SLC3A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11067 {source="mim2gene_medgen"} ! SLC7A9 @@ -167410,7 +168966,7 @@ xref: SCTID:67434000 {source="DOID:3762", source="MONDO:kboom-pr-1.00/0.81/10.48 xref: UMLS:C0268237 {source="NCBI:mim2gene_medline", source="DOID:3762", source="NCIT:C98910", source="GARD:0000048", source="Orphanet:254905", source="OMIM:220110", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:220110"} ! mitochondrial complex deficiency is_a: MONDO:0016805 {source="Orphanet:254905"} ! isolated oxidative phosphorylation complex disorder -is_a: MONDO:0019052 {source="MESH:D030401", source="MONDO:Redundant", source="NCIT:C98910", source="Orphanet:254905/inferred", source="linkedlifedata"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:3762/inferred", source="MESH:D030401", source="MONDO:Redundant", source="NCIT:C98910", source="Orphanet:254905/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inborn errors of metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10603 {source="mim2gene_medgen"} ! SCO1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20492 {source="mim2gene_medgen"} ! APOPT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2260 {source="mim2gene_medgen"} ! COX10 @@ -167537,7 +169093,7 @@ xref: Orphanet:217 {source="OMIM:220200", source="MONDO:equivalentTo"} xref: SCTID:14447001 {source="DOID:2785", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1000890", source="MONDO:equivalentTo"} xref: SCTID:204063009 {source="DOID:2785"} xref: UMLS:C0010964 {source="DOID:2785", source="NCBI:mim2gene_medline", source="NCIT:C75012", source="OMIM:220200", source="Orphanet:217", source="MONDO:equivalentTo"} -is_a: MONDO:0002427 {source="DOID:2785", source="MESH:D003616", source="linkedlife/inferred"} ! cerebellar disease +is_a: MONDO:0002427 {source="DOID:2785", source="MESH:D003616", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! cerebellar disease is_a: MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:217", source="Orphanet:217/inferred"} ! rare genetic developmental defect during embryogenesis is_a: MONDO:0019117 {source="MONDO:Entailed", source="Orphanet:217", source="Orphanet:217/inferred"} ! genetic nervous system disorder is_a: MONDO:0020130 {source="Orphanet:217"} ! malformation of the cerebellar vermis @@ -167553,10 +169109,12 @@ synonym: "Craniocerebellocardiac dysplasia" RELATED [OMIM:220210] synonym: "Dandy-Walker-Like malformation with Atrioventricular septal defect" RELATED [OMIM:220210] synonym: "Ritscher-Schinzel syndrome" RELATED [MONDO:Lexical, OMIM:220210] synonym: "Ritscher-Schinzel syndrome 1; RTSC1" RELATED [OMIM:220210] +synonym: "Ritscher-Schinzel syndrome caused by mutation in WASHC5" EXACT [MONDO:design_pattern] synonym: "Ritscher-Schinzel syndrome type 1" EXACT [DOID:0060571, MONDORULE:1] synonym: "Ritscher-Schinzel syndrome; RTSC" RELATED [OMIM:220210] synonym: "RTSC" RELATED [MONDO:Lexical, OMIM:220210] synonym: "RTSC1" RELATED [OMIM:220210] +synonym: "WASHC5 Ritscher-Schinzel syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060571 {source="MONDO:equivalentTo"} xref: OMIM:220210 {source="DOID:0060571", source="MONDO:equivalentTo"} xref: Orphanet:7 {source="DOID:0060571", source="MONDO:subClassOf", source="OMIM:220210"} @@ -167669,7 +169227,7 @@ xref: SCTID:373905003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0022387 {source="OMIM:220400", source="NCIT:C84793", source="MONDO:equivalentTo", source="Orphanet:90647", source="ORDO:90647/e"} is_a: MONDO:0002441 {source="DC-OMIM:220400"} ! Jervell-Lange Nielsen syndrome is_a: MONDO:0002442 {source="MONDO:Redundant", source="NCIT:C84793"} ! long QT syndrome -is_a: MONDO:0019171 {source="Orphanet:90647", source="linkedlifedata"} ! familial long QT syndrome +is_a: MONDO:0019171 {source="Orphanet:90647", source="linkedlifedata", source="linkedlifedata/inferred"} ! familial long QT syndrome is_a: MONDO:0019589 {source="Orphanet:90647"} ! syndromic genetic deafness property_value: confidence "0.3031550068587101" xsd:double @@ -168014,7 +169572,7 @@ xref: OMIM:221810 {source="Orphanet:1657", source="ORDO:1657/e", source="MONDO:e xref: Orphanet:1657 {source="OMIM:221810", source="MONDO:equivalentTo"} xref: SCTID:721090002 {source="MONDO:kboom-pr-1.00/0.81/10.93", source="MONDO:equivalentTo"} xref: UMLS:C1857301 {source="OMIM:221810", source="NCBI:mim2gene_medline", source="Orphanet:1657", source="ORDO:1657/e", source="MONDO:equivalentTo"} -is_a: MONDO:0019287 {source="MESH:C535373", source="Orphanet:1657", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MESH:C535373", source="Orphanet:1657", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome property_value: confidence "33.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1814/dermatoosteolysis-kirghizian-type xsd:anyURI {source="GARD:0001814"} @@ -168064,6 +169622,7 @@ property_value: confidence "4.3125" xsd:double id: MONDO:0009097 name: persistent hyperplastic primary vitreous, autosomal recessive def: "Autosomal recessive form of persistent hyperplastic primary vitreous." [MONDO:patterns/autosomal_recessive] +synonym: "autosomal recessive persistent hyperplastic primary vitreous" EXACT [MONDO:design_pattern] synonym: "persistent fetal vasculature" RELATED [OMIM:221900] synonym: "persistent hyperplastic primary vitreous, autosomal recessive" EXACT [MONDO:Lexical, MONDO:patterns/autosomal_recessive, OMIM:221900] synonym: "persistent hyperplastic primary vitreous, autosomal recessive; PHPVAR" RELATED [OMIM:221900] @@ -168144,8 +169703,10 @@ def: "Any Wolfram syndrome in which the cause of the disease is a mutation in th synonym: "diabetes insipidus and mellitus with optic atrophy and deafness" RELATED [OMIM:222300] synonym: "Wfs" RELATED [OMIM:222300] synonym: "WFS1" EXACT [DOID:0110629, MONDO:Lexical, OMIM:222300] +synonym: "WFS1 Wolfram syndrome" EXACT [MONDO:design_pattern] synonym: "Wolfram syndrome 1" EXACT [MONDO:Lexical, OMIM:222300] synonym: "WOLFRAM syndrome 1; WFS1" RELATED [OMIM:222300] +synonym: "Wolfram syndrome caused by mutation in WFS1" EXACT [MONDO:design_pattern] synonym: "Wolfram syndrome type 1" EXACT [DOID:0110629, MONDORULE:1, OMIM:222300] xref: DOID:0110629 {source="MONDO:equivalentTo"} xref: ICD10:E13.8 {source="DOID:0110629"} @@ -168277,7 +169838,7 @@ xref: OMIM:222500 {source="ORDO:1671/e", source="MONDO:equivalentTo", source="Or xref: Orphanet:1671 {source="OMIM:222500", source="MONDO:equivalentTo"} xref: SCTID:49351009 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0011999 {source="ORDO:1671/e", source="NCBI:mim2gene_medline", source="OMIM:222500", source="NCIT:C98913", source="MONDO:equivalentTo", source="Orphanet:1671"} -is_a: MONDO:0002320 {source="NCIT:C98913"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="NCIT:C98913"} ! congenital nervous system disorder is_a: MONDO:0017085 {source="Orphanet:1671"} ! malformation of the neurenteric canal, spinal cord and column property_value: confidence "8.375" xsd:double @@ -168302,7 +169863,7 @@ xref: Orphanet:628 {source="OMIM:222600", source="MONDO:equivalentTo"} xref: SCTID:58561002 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:14687", source="MONDO:equivalentTo"} xref: UMLS:C0220726 {source="NCBI:mim2gene_medline", source="OMIM:222600", source="Orphanet:628", source="DOID:14687", source="ORDO:628/e"} xref: UMLS:C1857255 {source="OMIM:222600"} -is_a: MONDO:0005516 {source="DOID:14687", source="linkedlifedata"} ! osteochondrodysplasia +is_a: MONDO:0005516 {source="DOID:14687", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0018232 {source="Orphanet:628"} ! primary bone dysplasia with micromelia is_a: MONDO:0019688 {source="Orphanet:628"} ! sulfation-related bone disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10994 {source="mim2gene_medgen"} ! SLC26A2 @@ -168362,7 +169923,7 @@ xref: SCTID:367410007 {source="DOID:0060439"} xref: UMLS:C0268647 {source="DOID:0060439", source="NCBI:mim2gene_medline", source="ORDO:470/e", source="NCIT:C121563", source="OMIM:222700", source="Orphanet:470", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0004736 {source="DOID:0060439", source="MESH:C562687"} ! inherited amino acid metabolic disorder -is_a: MONDO:0019216 {source="Orphanet:470", source="linkedlife"} ! inborn disorder of amino acid absorption and transport +is_a: MONDO:0019216 {source="Orphanet:470", source="linkedlifedata"} ! inborn disorder of amino acid absorption and transport relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11065 {source="mim2gene_medgen"} ! SLC7A7 property_value: confidence "36.6984126984127" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1853/dibasic-aminoaciduria-2 xsd:anyURI {source="GARD:0001853"} @@ -168389,7 +169950,7 @@ xref: Orphanet:2195 {source="OMIM:222730", source="DOID:0060650", source="MONDO: xref: SCTID:716747007 {source="MONDO:kboom-pr-0.76/0.38/0.67", source="MONDO:equivalentTo"} xref: UMLS:C1857253 {source="Orphanet:2195", source="NCBI:mim2gene_medline", source="OMIM:222730", source="ORDO:2195/e", source="DOID:0060650", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0004736 {source="DOID:0060650"} ! inherited amino acid metabolic disorder -is_a: MONDO:0019216 {source="Orphanet:2195", source="linkedlife"} ! inborn disorder of amino acid absorption and transport +is_a: MONDO:0019216 {source="Orphanet:2195", source="linkedlifedata"} ! inborn disorder of amino acid absorption and transport property_value: confidence "36.6984126984127" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1855/dicarboxylic-aminoaciduria xsd:anyURI {source="GARD:0001855"} @@ -168433,9 +169994,11 @@ synonym: "Glyceronephosphate O-acyltransferase deficiency" EXACT [DOID:0110852] synonym: "Glyceronephosphate O-acyltransferase deficiency" RELATED [OMIM:222765] synonym: "Gnpat deficiency" EXACT [DOID:0110852] synonym: "Gnpat deficiency" RELATED [OMIM:222765] +synonym: "GNPAT rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern] synonym: "peroxisomal Dihydroxyacetonephosphate acyltransferase deficiency" EXACT [DOID:0110852, OMIM:222765] synonym: "RCDP2" RELATED [MONDO:Lexical, OMIM:222765] synonym: "Rcdp2" EXACT [DOID:0110852] +synonym: "rhizomelic chondrodysplasia punctata caused by mutation in GNPAT" EXACT [MONDO:design_pattern] synonym: "rhizomelic chondrodysplasia punctata, type 2" RELATED [MONDO:Lexical, OMIM:222765] synonym: "rhizomelic chondrodysplasia punctata, type 2; RCDP2" RELATED [OMIM:222765] synonym: "type 2 rhizomelic chondrodysplasia punctata" RELATED [GARD:0009429] @@ -168510,7 +170073,7 @@ synonym: "sucrose-isomaltose malabsorption, congenital" RELATED [OMIM:222900] xref: GARD:0006183 {source="MONDO:equivalentTo"} xref: GARD:0007710 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:E74.3 {source="ORDO:35122/inclusion", source="ORDO:35122/ntbt", source="Orphanet:35122"} -xref: ICD9:271.3 {source="linkedlife", source="i2s", source="MONDO:relatedTo"} +xref: ICD9:271.3 {source="linkedlifedata", source="i2s", source="MONDO:relatedTo"} xref: MedDRA:10066387 {source="ORDO:35122/e", source="Orphanet:35122"} xref: MESH:C538139 {source="MONDO:ontobio", source="ORDO:35122/e", source="Orphanet:35122", source="MONDO:equivalentTo"} xref: NCIT:C128190 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equivalentTo"} @@ -168519,7 +170082,7 @@ xref: Orphanet:35122 {source="OMIM:222900", source="MONDO:equivalentTo"} xref: SCTID:78373000 {source="MONDO:kboom-pr-1.00/0.80/9.36", source="MONDO:equivalentTo"} xref: UMLS:C1283620 {source="OMIM:222900", source="NCBI:mim2gene_medline", source="GARD:0006183", source="NCIT:C128190", source="ORDO:35122/e", source="Orphanet:35122", source="MONDO:relatedTo", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease -is_a: MONDO:0004905 ! intestinal disaccharidase deficiency +is_a: MONDO:0004905 {source="linkedlifedata"} ! intestinal disaccharidase deficiency is_a: MONDO:0015181 {source="Orphanet:35122"} ! congenital intestinal disease due to an enzymatic defect is_a: MONDO:0017706 {source="Orphanet:35122"} ! disorder of carbohydrate absorption and transport is_a: MONDO:0019052 {source="MESH:C538139/inferred", source="MONDO:Redundant", source="NCIT:C128190", source="Orphanet:35122/inferred"} ! inborn errors of metabolism @@ -168582,7 +170145,7 @@ xref: UMLS:C0022951 {source="DOID:10604", source="NCIT:C3154", source="MEDGEN:kb xref: UMLS:C0268181 {source="NCBI:mim2gene_medline", source="OMIM:223100"} xref: UMLS:C1857231 {source="OMIM:223100"} is_a: MONDO:0005137 {source="EFO:1000062"} ! nutritional disorder -is_a: MONDO:0019214 {source="DOID:10604"} ! inborn carbohydrate metabolic disorder +is_a: MONDO:0019214 {source="DOID:10604", source="NCIT:C3154"} ! inborn carbohydrate metabolic disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6949 {source="mim2gene_medgen"} ! MCM6 [Term] @@ -168715,10 +170278,10 @@ xref: OMIM:223370 {source="Orphanet:235", source="DOID:14796", source="MONDO:equ xref: Orphanet:235 {source="OMIM:223370", source="MONDO:equivalentTo"} xref: SCTID:2593002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14796", source="MONDO:equivalentTo"} xref: UMLS:C0175691 {source="Orphanet:235", source="OMIM:223370", source="NCBI:mim2gene_medline", source="DOID:14796", source="NCIT:C125591", source="MONDO:equivalentTo", source="ORDO:235/e"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125591"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:14796", source="MONDO:Redundant", source="NCIT:C125591"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:235"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:235"} ! rare syndromic intellectual disability -is_a: MONDO:0015329 {source="Orphanet:235"} ! malformation syndrome with short stature +is_a: MONDO:0015329 {source="Orphanet:235", source="linkedlifedata/inferred"} ! malformation syndrome with short stature is_a: MONDO:0015983 {source="Orphanet:235"} ! rare genetic syndromic intellectual disability is_a: MONDO:0019287 {source="Orphanet:235"} ! ectodermal dysplasia syndrome is_a: MONDO:0020169 {source="Orphanet:235"} ! rare disorder with ptosis @@ -168759,7 +170322,7 @@ xref: OMIM:223400 {source="GARD:0000054", source="ORDO:1203/e", source="Orphanet xref: Orphanet:1203 {source="GARD:0000054", source="OMIM:223400", source="MONDO:equivalentTo"} xref: SCTID:51118003 {source="MONDO:kboom-pr-1.00/0.79/8.19", source="MONDO:equivalentTo"} xref: UMLS:C0266174 {source="NCBI:mim2gene_medline", source="ORDO:1203/e", source="NCIT:C101025", source="OMIM:223400", source="Orphanet:1203", source="MONDO:equivalentTo"} -is_a: MONDO:0001045 {source="DOID:0080216"} ! intestinal atresia (disease) +is_a: MONDO:0001045 {source="DOID:0080216", source="NCIT:C101025/inferred"} ! intestinal atresia (disease) is_a: MONDO:0015209 {source="Orphanet:1203"} ! non-syndromic gastroduodenal malformation is_a: MONDO:0015211 {source="Orphanet:1203"} ! non-syndromic intestinal malformation property_value: confidence "8.375" xsd:double @@ -168786,7 +170349,7 @@ xref: MESH:C535809 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:223540 {source="MONDO:equivalentTo"} xref: Orphanet:2650 {source="OMIM:223540", source="MONDO:equivalentTo"} xref: UMLS:C0796076 {source="NCBI:mim2gene_medline", source="OMIM:223540", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MESH:C535809/inferred"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C535809/inferred", source="Orphanet:2650/inferred"} ! inherited genetic disease [Term] id: MONDO:0009129 @@ -168823,7 +170386,7 @@ xref: OMIM:304950 {source="ORDO:239/btnt", source="Orphanet:239", source="MONDO: xref: Orphanet:239 {source="OMIM:223800", source="MONDO:equivalentTo"} xref: SCTID:82699004 {source="MONDO:equivalentTo"} xref: UMLS:C0265286 {source="NCIT:C124844", source="NCBI:mim2gene_medline", source="ORDO:239/e", source="OMIM:223800", source="Orphanet:239", source="MONDO:equivalentTo"} -is_a: MONDO:0000844 {source="DOID:0111167"} ! spondyloepimetaphyseal dysplasia +is_a: MONDO:0000844 {source="DOID:0111167", source="linkedlifedata"} ! spondyloepimetaphyseal dysplasia is_a: MONDO:0002254 {source="MONDOLEX:0009130", source="NCIT:C124844"} ! syndromic disease is_a: MONDO:0016761 {source="Orphanet:239"} ! spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21317 {source="mim2gene_medgen"} ! DYM @@ -168999,7 +170562,7 @@ xref: Orphanet:1775 {source="MONDO:subClassOf", source="OMIM:224230", source="GA xref: SCTID:707272006 {source="MONDO:equivalentTo"} xref: UMLS:C1857144 {source="NCBI:mim2gene_medline", source="OMIM:224230", source="GARD:0006300", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm"} ! syndromic disease -is_a: MONDO:0015780 {source="DC-OMIM:224230", source="DOID:0070015", source="OMIM:224230"} ! dyskeratosis congenita +is_a: MONDO:0015780 {source="DC-OMIM:224230", source="DOID:0070015", source="MESH:C565611", source="OMIM:224230"} ! dyskeratosis congenita relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14377 {source="mim2gene_medgen"} ! NHP2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14378 {source="mim2gene_medgen"} ! NOP10 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6300/dyskeratosis-congenita-autosomal-recessive xsd:anyURI {source="GARD:0006300"} @@ -169080,7 +170643,7 @@ xref: Orphanet:1865 {source="DOID:0090032", source="OMIM:224410", source="MONDO: xref: SCTID:93132001 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"} xref: UMLS:C0432208 {source="NCBI:mim2gene_medline"} xref: UMLS:C1857100 {source="OMIM:224410"} -is_a: MONDO:0005516 {source="DOID:0090032", source="linkedlifedata"} ! osteochondrodysplasia +is_a: MONDO:0005516 {source="DOID:0090032", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0016761 {source="Orphanet:1865"} ! spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia is_a: MONDO:0019689 {source="Orphanet:1865"} ! perlecan-related bone disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5273 {source="mim2gene_medgen"} ! HSPG2 @@ -169097,7 +170660,9 @@ synonym: "dystonia 2, torsion, autosomal recessive" RELATED [MONDO:Lexical, OMIM synonym: "dystonia 2, torsion, autosomal recessive; DYT2" RELATED [OMIM:224500] synonym: "Dystonia musculorum deformans 2" RELATED [OMIM:224500] synonym: "Dystonia musculorum deformans type 2" RELATED [GARD:0002028] +synonym: "dystonic disorder caused by mutation in HPCA" EXACT [MONDO:design_pattern] synonym: "DYT2" EXACT [MONDO:Lexical, OMIM:224500, Orphanet:99657] +synonym: "HPCA dystonic disorder" EXACT [MONDO:design_pattern] synonym: "primary dystonia, DYT2 type" RELATED [Orphanet:99657] synonym: "torsion dystonia 2, autosomal recessive type" RELATED [GARD:0002028] synonym: "torsion dystonia type 2" EXACT [DOID:0090038, MONDORULE:1] @@ -169109,7 +170674,7 @@ xref: NCIT:C123415 {source="MONDO:kboom-pr-1.00/0.80/10.00", source="MONDO:equiv xref: OMIM:224500 {source="ORDO:99657/e", source="Orphanet:99657", source="DOID:0090038", source="MONDO:equivalentTo"} xref: Orphanet:99657 {source="OMIM:224500", source="DOID:0090038", source="MONDO:equivalentTo"} xref: UMLS:C1857093 {source="NCIT:C123415", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:224500", source="MONDO:equivalentTo"} -is_a: MONDO:0003441 {source="MESH:C538006/inferred", source="MONDO:Redundant", source="NCIT:C123415/inferred", source="OMIM:224500"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090038", source="MESH:C538006/inferred", source="MONDO:Redundant", source="NCIT:C123415/inferred", source="OMIM:224500"} ! dystonic disorder is_a: MONDO:0015990 {source="Orphanet:99657"} ! focal, segmental or multifocal dystonia intersection_of: MONDO:0003441 ! dystonic disorder intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5144 ! HPCA @@ -169133,9 +170698,11 @@ synonym: "Ear, patella, short stature syndrome" RELATED [OMIM:224690] synonym: "Meier-Gorlin syndrome" RELATED [OMIM:224690] synonym: "Meier-Gorlin syndrome 1" EXACT [MONDO:Lexical, OMIM:224690] synonym: "Meier-GORLIN syndrome 1; MGORS1" RELATED [OMIM:224690] +synonym: "Meier-Gorlin syndrome caused by mutation in ORC1" EXACT [MONDO:design_pattern] synonym: "Meier-Gorlin syndrome type 1" EXACT [MONDORULE:1, OMIM:224690] synonym: "MGORS1" RELATED [MONDO:Lexical, OMIM:224690] synonym: "microtia, absent patellae, micrognathia syndrome" RELATED [OMIM:224690] +synonym: "ORC1 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern] xref: ICD9:759.89 {source="i2s", source="MONDO:relatedTo"} xref: OMIM:224690 {source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="OMIM:224690", source="MONDO:subClassOf"} @@ -169307,7 +170874,7 @@ xref: SCTID:239050000 {source="MONDO:kboom-pr-1.00/0.75/7.09", source="MONDO:equ xref: UMLS:C1857052 {source="OMIM:225050", source="NCBI:mim2gene_medline", source="Orphanet:1882", source="GARD:0002049"} is_a: MONDO:0002254 {source="MONDO:0009150/inferred", source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0009150/inferred"} ! syndromic disease is_a: MONDO:0015778 {source="Orphanet:1882"} ! syndromic hypothyroidism -is_a: MONDO:0019287 {source="MESH:C565604", source="MONDOLEX:0009150", source="Orphanet:1882", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MESH:C565604", source="MONDOLEX:0009150", source="Orphanet:1882", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2049/hypohidrotic-ectodermal-dysplasia-with-hypothyroidism-and-ciliary-dyskinesia xsd:anyURI {source="GARD:0002049"} [Term] @@ -169318,7 +170885,6 @@ subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:3253"} synonym: "autosomal recessive ectodermal dysplasia" RELATED [GARD:0001045] synonym: "Bustos Simosa pinto Cisternas syndrome" RELATED [GARD:0001045] -synonym: "cleft 51P with or without cleft palate, nonsyndromic, 7" RELATED [OMIM:225060] synonym: "cleft lip with or without cleft palate, nonsyndromic, 7" RELATED [OMIM:225060] synonym: "cleft lip-palate-ectodermal dysplasia syndrome" RELATED [DOID:0060773] synonym: "cleft lip/palate-ectodermal dysplasia syndrome" EXACT [Orphanet:3253] @@ -169329,8 +170895,7 @@ synonym: "cleft lip/palate-syndactyly-pili torti syndrome" EXACT [DOID:0060773, synonym: "CLPED1" EXACT [DOID:0060773, MONDO:Lexical, OMIM:225060, Orphanet:3253] synonym: "ectodermal dysplasia margarita island type" RELATED [GARD:0001045] synonym: "ectodermal dysplasia type 4" RELATED [GARD:0001045] -synonym: "ectodermal dysplasia, cleft 51P and palate, mental retardation, and syndactyly" RELATED [OMIM:225060] -synonym: "ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly" RELATED [GARD:0000375] +synonym: "ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly" RELATED [GARD:0000375, OMIM:225060] synonym: "ectodermal dysplasia, margarita Island type" RELATED [OMIM:225060] synonym: "ectodermal dysplasia, type 4" RELATED [OMIM:225060] synonym: "ED4" RELATED [GARD:0001045] @@ -169352,7 +170917,7 @@ xref: SCTID:716248001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/ xref: UMLS:C1833538 {source="OMIM:225060"} xref: UMLS:C1857043 {source="OMIM:225060"} xref: UMLS:C2931488 {source="NCIT:C122656", source="Orphanet:3253", source="NCBI:mim2gene_medline", source="OMIM:225060", source="GARD:0001045"} -is_a: MONDO:0000358 {source="DC-OMIM:225060", source="OMIM:225060", source="linkedlifedata"} ! orofacial cleft +is_a: MONDO:0000358 {source="DC-OMIM:225060", source="OMIM:225060", source="linkedlifedata", source="linkedlifedata/inferred"} ! orofacial cleft is_a: MONDO:0006025 {source="DOID:0060773", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015335 {source="Orphanet:3253"} ! orofacial clefting syndrome is_a: MONDO:0017911 {source="MONDOLEX:0009151", source="Orphanet:3253"} ! cleft lip/palate-ectodermal dysplasia syndrome @@ -169376,7 +170941,7 @@ xref: OMIM:225100 {source="DOID:0111149", source="MONDO:equivalentTo"} xref: Orphanet:1885 {source="MONDO:subClassOf", source="OMIM:225100"} xref: UMLS:C2673634 {source="NCBI:mim2gene_medline"} xref: UMLS:C3541474 {source="OMIM:225100", source="MONDO:equivalentTo"} -is_a: MONDO:0015998 {source="DC-OMIM:225100"} ! isolated ectopia lentis +is_a: MONDO:0015998 {source="DC-OMIM:225100", source="DOID:0111149"} ! isolated ectopia lentis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19706 {source="mim2gene_medgen"} ! ADAMTSL4 property_value: confidence "39.499999999999936" xsd:double @@ -169400,9 +170965,11 @@ name: hypothyroidism, congenital, nongoitrous, 5 def: "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the NKX2-5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CHNG5" EXACT [DOID:0070125, MONDO:Lexical, OMIM:225250] synonym: "congenital nongoitrous hypothryoidism 5" RELATED [DOID:0070125] +synonym: "hypothyroidism, congenital, nongoitrous caused by mutation in NKX2-5" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, nongoitrous, 5" EXACT [MONDO:Lexical, OMIM:225250] synonym: "hypothyroidism, congenital, nongoitrous, 5; CHNG5" RELATED [OMIM:225250] synonym: "hypothyroidism, congenital, nongoitrous, type 5" EXACT [MONDORULE:1, OMIM:225250] +synonym: "NKX2-5 hypothyroidism, congenital, nongoitrous" EXACT [MONDO:design_pattern] xref: DOID:0070125 {source="MONDO:equivalentTo"} xref: ICD10:E03.1 {source="DOID:0070125"} xref: MESH:C567123 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -169469,10 +171036,12 @@ name: split hand-foot malformation 6 def: "Any split hand-foot malformation in which the cause of the disease is a mutation in the WNT10B gene." [MONDO:patterns/disease_series_by_gene] synonym: "ectrodactyly, autosomal recessive" RELATED [OMIM:225300] synonym: "SHFM6" EXACT [DOID:0090026, MONDO:Lexical, OMIM:225300] +synonym: "split hand-foot malformation caused by mutation in WNT10B" EXACT [MONDO:design_pattern] synonym: "split hand-foot malformation type 6" EXACT [DOID:0090026, MONDORULE:1] synonym: "split-hand/foot malformation 6" RELATED [MONDO:Lexical, OMIM:225300] synonym: "split-hand/foot malformation 6; SHFM6" RELATED [OMIM:225300] synonym: "split-hand/foot malformation type 6" EXACT [MONDORULE:1, OMIM:225300] +synonym: "WNT10B split hand-foot malformation" EXACT [MONDO:design_pattern] xref: DOID:0090026 {source="MONDO:equivalentTo"} xref: ICD10:Q71.6 {source="DOID:0090026"} xref: MESH:C567616 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -169609,7 +171178,7 @@ is_a: MONDO:0006025 {source="DOID:12714"} ! autosomal recessive disease is_a: MONDO:0015461 {source="MONDO:Redundant", source="Orphanet:289"} ! short rib-polydactyly syndrome is_a: MONDO:0015506 {source="Orphanet:289"} ! rare syndrome with cardiac malformations is_a: MONDO:0018770 {source="OMIM:225500"} ! Jeune syndrome -is_a: MONDO:0019287 {source="MESH:D004613", source="MONDOLEX:0009162", source="Orphanet:289", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MESH:D004613", source="MONDOLEX:0009162", source="Orphanet:289", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0019721 {source="Orphanet:289"} ! syndromic renal or urinary tract malformation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19747 {source="mim2gene_medgen"} ! EVC2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3497 {source="mim2gene_medgen"} ! EVC @@ -169644,10 +171213,12 @@ synonym: "AGS1" RELATED [MONDO:Lexical, OMIM:225750] synonym: "Aicardi-Goutieres syndrome 1" EXACT [MONDO:Lexical, OMIM:225750] synonym: "Aicardi-Goutieres syndrome 1, autosomal dominant" RELATED [OMIM:225750] synonym: "Aicardi-Goutieres syndrome 1; AGS1" RELATED [OMIM:225750] +synonym: "Aicardi-Goutieres syndrome caused by mutation in TREX1" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 1" EXACT [MONDORULE:1, OMIM:225750] synonym: "Cree encephalitis" RELATED [OMIM:225750] synonym: "encephalopathy, familial infantile, with intracranial calcification and chronic cerebrospinal fluid lymphocytosis" RELATED [OMIM:225750] synonym: "Pseudotoxoplasmosis syndrome" RELATED [OMIM:225750] +synonym: "TREX1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern] xref: OMIM:225750 {source="MONDO:equivalentTo"} xref: Orphanet:51 {source="MONDO:subClassOf", source="OMIM:225750"} xref: UMLS:C0796126 {source="NCBI:mim2gene_medline", source="OMIM:225750", source="MONDO:equivalentTo"} @@ -169679,7 +171250,7 @@ xref: OMIM:225753 {source="ORDO:166063/e", source="Orphanet:166063", source="DOI xref: Orphanet:166063 {source="DOID:0060273", source="OMIM:225753", source="MONDO:equivalentTo"} xref: SCTID:718608006 {source="MONDO:kboom-pr-1.00/0.80/10.13", source="MONDO:equivalentTo"} xref: UMLS:C1856974 {source="ORDO:166063/e", source="Orphanet:166063", source="NCBI:mim2gene_medline", source="DOID:0060273", source="OMIM:225753", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0020135 {source="DC-OMIM:225753", source="DOID:0060273", source="OMIM:225753", source="Orphanet:166063"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DC-OMIM:225753", source="DOID:0060273", source="OMIM:225753", source="Orphanet:166063", source="linkedlifedata"} ! non-syndromic pontocerebellar hypoplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/27561 {source="mim2gene_medgen"} ! TSEN54 property_value: confidence "249.00000000000298" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/343/pontocerebellar-hypoplasia-type-4 xsd:anyURI {source="GARD:0000343"} @@ -169759,7 +171330,7 @@ xref: OMIM:226000 {source="Orphanet:2022", source="ORDO:2022/e", source="DOID:12 xref: Orphanet:2022 {source="MONDO:equivalentTo", source="OMIM:226000"} xref: SCTID:65457005 {source="DOID:12929", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0014117 {source="Orphanet:2022", source="NCBI:mim2gene_medline", source="ORDO:2022/e", source="NCIT:C98922", source="DOID:12929", source="MONDO:equivalentTo", source="OMIM:226000"} -is_a: MONDO:0000470 {source="DOID:12929", source="linkedlife/inferred"} ! endocardium disease +is_a: MONDO:0000470 {source="DOID:12929", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! endocardium disease is_a: MONDO:0016333 {source="MONDO:Entailed", source="Orphanet:2022"} ! familial dilated cardiomyopathy is_a: MONDO:0016338 {source="Orphanet:2022"} ! non-familial dilated cardiomyopathy is_a: MONDO:0016340 {source="MONDO:Entailed", source="Orphanet:2022"} ! familial restrictive cardiomyopathy @@ -170149,7 +171720,7 @@ xref: Orphanet:1946 {source="OMIM:226750", source="MONDO:equivalentTo"} xref: SCTID:109478007 {source="MONDO:kboom-pr-1.00/0.75/6.82", source="MONDO:equivalentTo"} xref: UMLS:C0406740 {source="NCBI:mim2gene_medline", source="Orphanet:1946", source="MEDGEN:kboom-pr97-c99", source="OMIM:226750", source="MONDO:equivalentTo"} is_a: MONDO:0015336 {source="Orphanet:1946"} ! malformation syndrome with odontal and/or periodontal component -is_a: MONDO:0019287 {source="Orphanet:1946", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="Orphanet:1946", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29478 {source="mim2gene_medgen"} ! ROGDI property_value: confidence "7.125" xsd:double @@ -170375,7 +171946,7 @@ xref: Orphanet:999 {source="OMIM:227010", source="MONDO:equivalentTo"} xref: SCTID:10170007 {source="UMLS:C0268501", source="MONDO:equivalentTo"} xref: UMLS:C0268501 {source="OMIM:227010", source="MONDO:equivalentTo"} xref: UMLS:C1856899 {source="OMIM:227010", source="NCBI:mim2gene_medline", source="ORDO:999/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:999", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MESH:C535508/inferred", source="Orphanet:999/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C535508/inferred", source="Orphanet:999/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0005559 {source="NCIT:C133085"} ! neurodegenerative disease is_a: MONDO:0019589 {source="Orphanet:999"} ! syndromic genetic deafness property_value: confidence "8.375" xsd:double @@ -170438,7 +172009,7 @@ xref: MESH:C562651 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:227150 {source="MONDO:equivalentTo"} xref: SCTID:64235006 {source="MONDO:kboom-pr-1.00/0.80/9.57", source="MONDO:equivalentTo"} xref: UMLS:C0268423 {source="NCBI:mim2gene_medline", source="OMIM:227150", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MESH:C562651/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C562651/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease [Term] id: MONDO:0009200 @@ -170472,7 +172043,7 @@ subset: ordo_malformation_syndrome {source="Orphanet:1780"} synonym: "dysmorphic facial features and multiple structural abnormalities" RELATED [GARD:0005158] synonym: "Dysmorphism multiple structural anomalies" RELATED [GARD:0005158] synonym: "Dysmorphism-multiple structural anomalies syndrome" EXACT [Orphanet:1780] -synonym: "facial DYSMORPHISM with multiple malformations" RELATED [OMIM:227255] +synonym: "facial dysmorphism with multiple malformations" RELATED [OMIM:227255] xref: GARD:0005158 {source="MONDO:equivalentTo"} xref: ICD10:Q87.8 {source="ORDO:1780/ntbt", source="Orphanet:1780", source="ORDO:1780/attributed"} xref: OMIM:227255 {source="Orphanet:1780", source="ORDO:1780/e", source="MONDO:equivalentTo"} @@ -170563,12 +172134,14 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2230/faciocar id: MONDO:0009206 name: factor V and factor VIII, combined deficiency of, type 1 def: "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the LMAN1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "combined deficiency of factor V and factor VIII caused by mutation in LMAN1" EXACT [MONDO:design_pattern] synonym: "F5F8D1" RELATED [MONDO:Lexical, OMIM:227300] synonym: "Factor 5 and Factor Viii, combined deficiency of, 1" EXACT [MONDORULE:1, OMIM:227300] synonym: "FACTOR V and FACTOR VIII, combined deficiency of, 1" RELATED [MONDO:Lexical, OMIM:227300] synonym: "FACTOR V and FACTOR VIII, combined deficiency of, 1; F5F8D1" RELATED [OMIM:227300] synonym: "familial multiple coagulation Factor deficiency 1" RELATED [OMIM:227300] synonym: "Fmfd 1" RELATED [OMIM:227300] +synonym: "LMAN1 combined deficiency of factor V and factor VIII" EXACT [MONDO:design_pattern] synonym: "multiple coagulation Factor deficiency 1" RELATED [OMIM:227300] xref: OMIM:227300 {source="MONDO:equivalentTo"} xref: Orphanet:35909 {source="MONDO:subClassOf", source="OMIM:227300"} @@ -170670,6 +172243,7 @@ name: congenital factor VII deficiency def: "Factor VII (FVII) deficiency is a rare hereditary hemorrhagic disease caused by the diminution or absence of this coagulation factor." [Orphanet:327] subset: ordo_disease {source="Orphanet:327"} synonym: "congenital proconvertin deficiency" EXACT [Orphanet:327] +synonym: "deficiency, stable" EXACT [DOID:2215] synonym: "F7 deficiency" RELATED [OMIM:227500] synonym: "Factor 7 deficiency" RELATED [GARD:0002238, OMIM:227500] synonym: "FACTOR VII deficiency" RELATED [OMIM:227500] @@ -170774,7 +172348,9 @@ def: "Fanconi anemia caused by mutations of the FANCA gene. FANCA gene mutations synonym: "Estren-Dameshek variant of Fanconi Anemia" RELATED [OMIM:227650] synonym: "Estren-Dameshek variant of Fanconi pancytopenia" RELATED [OMIM:227650] synonym: "FANCA" EXACT [DOID:0111095, MONDO:Lexical, OMIM:227650] +synonym: "FANCA Fanconi anemia" EXACT [MONDO:design_pattern] synonym: "Fanconi Anemia" RELATED [OMIM:227650] +synonym: "Fanconi anemia caused by mutation in FANCA" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type A" EXACT [DOID:0111095, MONDORULE:1] synonym: "FANCONI ANEMIA, complementation group A" RELATED [MONDO:Lexical, OMIM:227650] synonym: "FANCONI ANEMIA, complementation group A; FANCA" RELATED [OMIM:227650] @@ -170790,7 +172366,7 @@ xref: UMLS:C1856796 {source="OMIM:227650"} xref: UMLS:C1856797 {source="OMIM:227650"} xref: UMLS:C3469521 {source="NCIT:C125702", source="NCBI:mim2gene_medline", source="OMIM:227650"} xref: UMLS:CN653908 {source="MONDO:equivalentTo"} -is_a: MONDO:0019391 {source="DC-OMIM:227650", source="DOID:0111095", source="MONDO:Entailed", source="NCIT:C125702", source="OMIM:227650"} ! Fanconi anemia +is_a: MONDO:0019391 {source="DC-OMIM:227650", source="DOID:0111095", source="EFO:0009044", source="MONDO:Entailed", source="NCIT:C125702", source="OMIM:227650"} ! Fanconi anemia intersection_of: MONDO:0019391 ! Fanconi anemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3582 ! FANCA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3582 {source="mim2gene_medgen"} ! FANCA @@ -170984,8 +172560,10 @@ synonym: "fertile eunuch syndrome" RELATED [OMIM:228300] synonym: "HH23" RELATED [MONDO:Lexical, OMIM:228300] synonym: "hypogonadotropic hypogonadism 23 without anosmia" RELATED [MONDO:Lexical, OMIM:228300] synonym: "hypogonadotropic hypogonadism 23 without anosmia; HH23" RELATED [OMIM:228300] +synonym: "hypogonadotropic hypogonadism caused by mutation in LHB" EXACT [MONDO:design_pattern] synonym: "Leydig cell hypoplasia due to LHB deficiency" EXACT [DOID:0090091] synonym: "Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency" EXACT [DOID:0090091, Orphanet:325448] +synonym: "LHB hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] synonym: "Pasqualini syndrome" EXACT [DOID:0090091, OMIM:228300] xref: DOID:0090091 {source="MONDO:equivalentTo"} xref: GARD:0010127 {source="OMIM-shared", source="MONDO:equivalentTo"} @@ -171039,9 +172617,11 @@ is_a: MONDO:0003847 ! inherited genetic disease id: MONDO:0009226 name: fibrochondrogenesis 1 def: "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "COL11A1 fibrochondrogenesis" EXACT [MONDO:design_pattern] synonym: "FBCG1" RELATED [MONDO:Lexical, OMIM:228520] synonym: "fibrochondrogenesis 1" EXACT [MONDO:Lexical, OMIM:228520] synonym: "fibrochondrogenesis 1; FBCG1" RELATED [OMIM:228520] +synonym: "fibrochondrogenesis caused by mutation in COL11A1" EXACT [MONDO:design_pattern] synonym: "fibrochondrogenesis type 1" EXACT [MONDORULE:1, OMIM:228520] xref: OMIM:228520 {source="MONDO:equivalentTo"} xref: Orphanet:2021 {source="MONDO:subClassOf", source="OMIM:228520"} @@ -171059,17 +172639,19 @@ name: myofibromatosis, infantile, 1 def: "Any myofibromatosis in which the cause of the disease is a mutation in the PDGFRB gene." [MONDO:patterns/disease_series_by_gene] synonym: "fibromatosis, congenital generalized" RELATED [OMIM:228550] synonym: "IMF1" RELATED [MONDO:Lexical, OMIM:228550] +synonym: "myofibromatosis caused by mutation in PDGFRB" EXACT [MONDO:design_pattern] synonym: "myofibromatosis, infantile, 1" EXACT [MONDO:Lexical, OMIM:228550] synonym: "myofibromatosis, infantile, 1; IMF1" RELATED [OMIM:228550] synonym: "myofibromatosis, infantile, type 1" EXACT [MONDORULE:1, OMIM:228550] synonym: "myofibromatosis, juvenile" RELATED [OMIM:228550] +synonym: "PDGFRB myofibromatosis" EXACT [MONDO:design_pattern] xref: ICD9:756.9 {source="i2s", source="MONDO:relatedTo"} xref: MESH:C562978 {source="MONDO:equivalentTo"} xref: OMIM:228550 {source="MONDO:equivalentTo"} xref: Orphanet:2591 {source="OMIM:228550", source="MONDO:subClassOf"} xref: SCTID:254146000 {source="MONDO:kboom-pr-0.74/0.37/0.51", source="MONDO:equivalentTo"} xref: UMLS:C0432284 {source="OMIM:228550", source="NCBI:mim2gene_medline"} -is_a: MONDO:0016824 {source="DC-OMIM:228550", source="OMIM:228550"} ! myofibromatosis +is_a: MONDO:0016824 {source="DC-OMIM:228550", source="MESH:C562978", source="OMIM:228550"} ! myofibromatosis intersection_of: MONDO:0016824 ! myofibromatosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8804 ! PDGFRB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8804 {source="mim2gene_medgen"} ! PDGFRB @@ -171246,7 +172828,7 @@ xref: UMLS:C1856719 {source="OMIM:228960"} xref: UMLS:C2673570 {source="OMIM:228960"} xref: UMLS:C2673571 {source="OMIM:228960"} xref: UMLS:C2673572 {source="OMIM:228960"} -is_a: MONDO:0001531 {source="MESH:C537060", source="MONDO:Redundant", source="NCIT:C98946", source="linkedlife/inferred"} ! blood coagulation disease +is_a: MONDO:0001531 {source="MESH:C537060", source="MONDO:Redundant", source="NCIT:C98946", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! blood coagulation disease is_a: MONDO:0019039 {source="Orphanet:483"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6383 {source="mim2gene_medgen"} ! KNG1 property_value: confidence "3.533333333333334" xsd:double @@ -171265,7 +172847,7 @@ xref: MESH:C565564 {source="MONDO:equivalentTo"} xref: OMIM:228980 {source="Orphanet:363989", source="ORDO:363989/e", source="MONDO:equivalentTo"} xref: Orphanet:363989 {source="OMIM:228980", source="MONDO:equivalentTo"} xref: UMLS:C1856718 {source="OMIM:228980", source="NCBI:mim2gene_medline", source="Orphanet:363989", source="MONDO:equivalentTo"} -is_a: MONDO:0019118 {source="Orphanet:363989"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:363989"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9038 {source="mim2gene_medgen"} ! PLA2G5 property_value: confidence "3.4444444444444438" xsd:double @@ -171336,9 +172918,11 @@ name: hypogonadotropic hypogonadism 24 without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FSHB gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:52901"} synonym: "follicle-stimulating hormone deficiency, isolated" RELATED [OMIM:229070] +synonym: "FSHB hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] synonym: "HH24" RELATED [MONDO:Lexical, OMIM:229070] synonym: "hypogonadotropic hypogonadism 24 without anosmia" EXACT [MONDO:Lexical, OMIM:229070] synonym: "hypogonadotropic hypogonadism 24 without anosmia; HH24" RELATED [OMIM:229070] +synonym: "hypogonadotropic hypogonadism caused by mutation in FSHB" EXACT [MONDO:design_pattern] synonym: "isolated follicle stimulating hormone deficiency" RELATED [Orphanet:52901] synonym: "isolated follicle-stimulating hormone (FSH) deficiency" RELATED [GARD:0010128] synonym: "isolated follicle-stimulating hormone deficiency" EXACT [DOID:0090088] @@ -171439,9 +173023,9 @@ xref: Orphanet:90354 {source="OMIM:229200", source="MONDO:equivalentTo"} xref: SCTID:25606004 {source="DOID:14775"} xref: SCTID:719096006 {source="MONDO:equivalentTo"} xref: UMLS:C0268342 {source="MONDO:directSiblingOf", source="DOID:14775"} -is_a: MONDO:0000942 {source="DOID:14775", source="linkedlife"} ! corneal disease -is_a: MONDO:0006025 {source="linkedlife"} ! autosomal recessive disease -is_a: MONDO:0020066 {source="DOID:14775", source="MONDOLEX:0009242", source="Orphanet:90354", source="linkedlife"} ! Ehlers-Danlos syndrome +is_a: MONDO:0000942 {source="DOID:14775", source="linkedlifedata"} ! corneal disease +is_a: MONDO:0006025 {source="linkedlifedata"} ! autosomal recessive disease +is_a: MONDO:0020066 {source="DOID:14775", source="MONDOLEX:0009242", source="Orphanet:90354", source="linkedlifedata"} ! Ehlers-Danlos syndrome is_a: MONDO:0020272 {source="Orphanet:90354"} ! connective tissue disease with eye involvement property_value: confidence "2.31578947368421" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1019/brittle-cornea-syndrome xsd:anyURI {source="GARD:0001019"} @@ -171593,9 +173177,9 @@ xref: SCTID:237962008 {source="DOID:9869"} xref: UMLS:C0016751 {source="DOID:9869", source="NCBI:mim2gene_medline", source="NCIT:C84720", source="MEDGEN:kboom-pr98-c99", source="OMIM:229600", source="Orphanet:469", source="MONDO:equivalentTo"} is_a: MONDO:0015115 {source="Orphanet:469"} ! rare metabolic liver disease is_a: MONDO:0015178 {source="Orphanet:469"} ! congenital intestinal transport defect -is_a: MONDO:0017689 {source="Orphanet:469"} ! disorder of fructose metabolism +is_a: MONDO:0017689 {source="Orphanet:469", source="linkedlifedata/inferred"} ! disorder of fructose metabolism is_a: MONDO:0017706 {source="Orphanet:469"} ! disorder of carbohydrate absorption and transport -is_a: MONDO:0019052 {source="MONDO:Redundant", source="NCIT:C84720", source="Orphanet:469/inferred"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:9869/inferred", source="MONDO:Redundant", source="NCIT:C84720", source="Orphanet:469/inferred"} ! inborn errors of metabolism is_a: MONDO:0019214 {source="DOID:9869", source="MONDO:Redundant", source="Orphanet:469/inferred"} ! inborn carbohydrate metabolic disorder is_a: MONDO:0019743 {source="Orphanet:469"} ! nephropathy secondary to a storage or other metabolic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/417 {source="mim2gene_medgen"} ! ALDOB @@ -171631,8 +173215,8 @@ xref: OMIM:229700 {source="DOID:5204", source="ORDO:348/e", source="Orphanet:348 xref: Orphanet:348 {source="OMIM:229700", source="MONDO:equivalentTo"} xref: SCTID:28183005 {source="DOID:5204", source="MONDO:equivalentTo"} xref: UMLS:C0016756 {source="NCBI:mim2gene_medline", source="DOID:5204", source="NCIT:C128119", source="OMIM:229700", source="ORDO:348/e", source="Orphanet:348", source="MONDO:equivalentTo"} -is_a: MONDO:0017689 {source="Orphanet:348"} ! disorder of fructose metabolism -is_a: MONDO:0019052 {source="MONDO:Redundant", source="NCIT:C128119", source="Orphanet:348/inferred"} ! inborn errors of metabolism +is_a: MONDO:0017689 {source="Orphanet:348", source="linkedlifedata"} ! disorder of fructose metabolism +is_a: MONDO:0019052 {source="DOID:5204/inferred", source="MONDO:Redundant", source="NCIT:C128119", source="Orphanet:348/inferred", source="linkedlifedata"} ! inborn errors of metabolism is_a: MONDO:0019225 {source="Orphanet:348"} ! gluconeogenesis disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3606 {source="mim2gene_medgen"} ! FBP1 relationship: disease_has_feature HP:0001942 ! Metabolic acidosis @@ -171657,7 +173241,7 @@ xref: Orphanet:2056 {source="OMIM:229800", source="MONDO:equivalentTo"} xref: SCTID:40278002 {source="MONDO:equivalentTo"} xref: UMLS:C0268160 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="Orphanet:2056"} xref: UMLS:C1416630 {source="OMIM:229800"} -is_a: MONDO:0017689 {source="Orphanet:2056"} ! disorder of fructose metabolism +is_a: MONDO:0017689 {source="Orphanet:2056", source="linkedlifedata/inferred"} ! disorder of fructose metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6315 {source="mim2gene_medgen"} ! KHK property_value: confidence "3.0625" xsd:double @@ -171712,7 +173296,7 @@ xref: Orphanet:349 {source="MONDO:equivalentTo", source="OMIM:230000"} xref: SCTID:190937009 {source="DOID:14500"} xref: SCTID:64716005 {source="MONDO:kboom-pr-1.00/0.80/9.33", source="DOID:14500", source="MONDO:equivalentTo"} xref: UMLS:C0016788 {source="ORDO:349/e", source="NCBI:mim2gene_medline", source="NCIT:C61274", source="Orphanet:349", source="DOID:14500", source="MONDO:equivalentTo", source="OMIM:230000"} -is_a: MONDO:0002561 {source="MESH:D005645/inferred", source="MONDO:Redundant", source="NCIT:C61274", source="Orphanet:349/inferred", source="linkedlifedata"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="DOID:14500", source="MESH:D005645/inferred", source="MONDO:Redundant", source="NCIT:C61274", source="Orphanet:349/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0016326 {source="Orphanet:349"} ! lysosomal disease with hypertrophic cardiomyopathy is_a: MONDO:0019251 {source="Orphanet:349"} ! oligosaccharidosis is_a: MONDO:0019706 {source="Orphanet:349"} ! lysosomal storage disease with skeletal involvement @@ -171838,7 +173422,7 @@ xref: OMIM:230450 {source="ORDO:33574/e", source="Orphanet:33574", source="MONDO xref: Orphanet:33574 {source="MONDO:equivalentTo", source="OMIM:230450"} xref: SCTID:36799008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1856603 {source="NCBI:mim2gene_medline", source="Orphanet:33574", source="OMIM:230450"} -is_a: MONDO:0019241 {source="Orphanet:33574"} ! inborn disorder of the gamma-glutamyl cycle +is_a: MONDO:0019241 {source="Orphanet:33574", source="linkedlifedata"} ! inborn disorder of the gamma-glutamyl cycle is_a: MONDO:0020105 {source="Orphanet:33574"} ! hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0004357 ! glutamate-cysteine ligase activity @@ -171958,7 +173542,7 @@ is_a: MONDO:0015162 {source="Orphanet:2067"} ! rare syndromic intellectual disab is_a: MONDO:0015336 {source="Orphanet:2067"} ! malformation syndrome with odontal and/or periodontal component is_a: MONDO:0015983 {source="Orphanet:2067"} ! rare genetic syndromic intellectual disability is_a: MONDO:0018609 {source="Orphanet:2067"} ! syndromic hereditary optic neuropathy -is_a: MONDO:0019287 {source="Orphanet:2067", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="Orphanet:2067", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21014 {source="mim2gene_medgen"} ! ANTXR1 property_value: confidence "0.6000000000000001" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/400/gapo-syndrome xsd:anyURI {source="GARD:0000400"} @@ -171988,7 +173572,7 @@ xref: Orphanet:2368 {source="OMIM:230750", source="MONDO:equivalentTo"} xref: SCTID:72951007 {source="EFO:1000949", source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:11044", source="MONDO:equivalentTo"} xref: UMLS:C0238577 {source="OMIM:230750"} xref: UMLS:C0265706 {source="OMIM:230750", source="NCBI:mim2gene_medline", source="DOID:11044", source="NCIT:C84725", source="ORDO:2368/e", source="Orphanet:2368", source="MONDO:equivalentTo"} -is_a: MONDO:0000839 {source="DOID:11044"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:11044", source="ICD10:Q79.3/inferred", source="NCIT:C84725"} ! congenital abnormality is_a: MONDO:0015215 {source="Orphanet:2368"} ! non-syndromic diaphragmatic or abdominal wall malformation is_a: MONDO:0018241 {source="Orphanet:2368"} ! primary short bowel syndrome property_value: confidence "5.0" xsd:double @@ -172052,11 +173636,11 @@ xref: Orphanet:355 {source="OMIM:230900", source="MONDO:subClassOf"} xref: Orphanet:77260 {source="OMIM:230900", source="DOID:0110958", source="MONDO:equivalentTo"} xref: SCTID:12246008 {source="MONDO:kboom-pr-1.00/0.79/8.27", source="MONDO:equivalentTo"} xref: UMLS:C0268250 {source="NCBI:mim2gene_medline", source="ORDO:77260/e", source="OMIM:230900", source="Orphanet:77260"} -is_a: MONDO:0002561 {source="PMID:21723623"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="DOID:0110958/inferred", source="Orphanet:77260/inferred", source="PMID:21723623"} ! lysosomal storage disease is_a: MONDO:0015510 {source="MONDO:Entailed"} ! rare genetic respiratory disease is_a: MONDO:0015955 {source="MONDO:Entailed"} ! rare genetic epilepsy is_a: MONDO:0017024 {source="Orphanet:77260"} ! secondary interstitial lung disease specific to childhood associated with a metabolic disease -is_a: MONDO:0018150 {source="DC-OMIM:230900", source="DOID:0110958", source="MONDOLEX:0009266", source="Orphanet:77260"} ! Gaucher disease +is_a: MONDO:0018150 {source="DC-OMIM:230900", source="DOID:0110958", source="MONDOLEX:0009266", source="Orphanet:77260", source="linkedlifedata"} ! Gaucher disease is_a: MONDO:0018299 {source="Orphanet:77260"} ! sphingolipidosis with epilepsy is_a: MONDO:0019058 {source="Orphanet:77260"} ! neurometabolic disease is_a: MONDO:0020143 {source="Orphanet:77260"} ! cerebral lipidosis with dementia @@ -172097,12 +173681,12 @@ xref: UMLS:C0268251 {source="Orphanet:77261", source="NCBI:mim2gene_medline", so xref: UMLS:C1856491 {source="OMIM:231000"} xref: UMLS:C1856492 {source="OMIM:231000"} xref: UMLS:C1856493 {source="OMIM:231000"} -is_a: MONDO:0002561 {source="PMID:21723623"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="DOID:0110959/inferred", source="Orphanet:77261/inferred", source="PMID:21723623"} ! lysosomal storage disease is_a: MONDO:0015510 {source="MONDO:Entailed"} ! rare genetic respiratory disease is_a: MONDO:0015955 {source="MONDO:Entailed"} ! rare genetic epilepsy is_a: MONDO:0016341 {source="Orphanet:77261", source="Orphanet:77261/inferred"} ! lysosomal disease with restrictive cardiomyopathy is_a: MONDO:0017024 {source="Orphanet:77261"} ! secondary interstitial lung disease specific to childhood associated with a metabolic disease -is_a: MONDO:0018150 {source="DC-OMIM:231000", source="DOID:0110959", source="MONDOLEX:0009267", source="Orphanet:77261"} ! Gaucher disease +is_a: MONDO:0018150 {source="DC-OMIM:231000", source="DOID:0110959", source="MONDOLEX:0009267", source="Orphanet:77261", source="linkedlifedata"} ! Gaucher disease is_a: MONDO:0018299 {source="Orphanet:77261"} ! sphingolipidosis with epilepsy is_a: MONDO:0018377 {source="Orphanet:77261"} ! rare hereditary disease with avascular necrosis is_a: MONDO:0019058 {source="Orphanet:77261"} ! neurometabolic disease @@ -172139,8 +173723,11 @@ property_value: confidence "2.0000000000000004" xsd:double [Term] id: MONDO:0009269 name: geleophysic dysplasia 1 +def: "Any geleophysic dysplasia in which the cause of the disease is a mutation in the ADAMTSL2 gene." [MONDO:design_pattern] +synonym: "ADAMTSL2 geleophysic dysplasia" EXACT [MONDO:design_pattern] synonym: "geleophysic dysplasia 1" EXACT [MONDO:Lexical, OMIM:231050] synonym: "GELEOPHYSIC dysplasia 1; GPHYSD1" RELATED [OMIM:231050] +synonym: "geleophysic dysplasia caused by mutation in ADAMTSL2" EXACT [MONDO:design_pattern] synonym: "Geleophysic dysplasia type 1" EXACT [MONDORULE:1, OMIM:231050] synonym: "GPHYSD1" RELATED [MONDO:Lexical, OMIM:231050] xref: OMIM:231050 {source="MONDO:equivalentTo"} @@ -172222,6 +173809,7 @@ property_value: confidence "0.0" xsd:double id: MONDO:0009273 name: hydatidiform mole, recurrent, 1 def: "Any complete hydatidiform mole in which the cause of the disease is a mutation in the NLRP7 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "complete hydatidiform mole caused by mutation in NLRP7" EXACT [MONDO:design_pattern] synonym: "gestational trophoblastic disease" RELATED [OMIM:231090] synonym: "hydatidiform Mole" RELATED [OMIM:231090] synonym: "hydatidiform Mole, complete" RELATED [OMIM:231090] @@ -172229,6 +173817,7 @@ synonym: "hydatidiform mole, recurrent, 1" EXACT [MONDO:Lexical, OMIM:231090] synonym: "hydatidiform MOLE, recurrent, 1; HYDM1" RELATED [OMIM:231090] synonym: "hydatidiform Mole, recurrent, type 1" EXACT [MONDORULE:1, OMIM:231090] synonym: "HYDM1" RELATED [MONDO:Lexical, OMIM:231090] +synonym: "NLRP7 complete hydatidiform mole" EXACT [MONDO:design_pattern] xref: OMIM:231090 {source="MONDO:equivalentTo"} xref: Orphanet:254688 {source="OMIM:231090", source="MONDO:subClassOf"} xref: Orphanet:99927 {source="OMIM:231090", source="MONDO:subClassOf"} @@ -172376,8 +173965,9 @@ xref: UMLS:C0311251 {source="DOID:11211"} xref: UMLS:C1856439 {source="OMIM:231300"} xref: UMLS:C3278152 {source="OMIM:231300"} xref: UMLS:C3278153 {source="OMIM:231300"} -is_a: MONDO:0006788 {source="DOID:11211"} ! hydrophthalmos +is_a: MONDO:0020366 {source="NCIT:C148260/inferred"} ! congenital glaucoma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2597 {source="mim2gene_medgen"} ! CYP1B1 +relationship: excluded_subClassOf MONDO:0006788 {source="DOID:11211"} ! hydrophthalmos property_value: confidence "0.6519518666964457" xsd:double [Term] @@ -172519,7 +174109,7 @@ xref: OMIM:231670 {source="ORDO:25/e", source="Orphanet:25", source="MONDO:equiv xref: Orphanet:25 {source="MONDO:equivalentTo", source="OMIM:231670"} xref: SCTID:76175005 {source="MONDO:equivalentTo"} xref: UMLS:C0268595 {source="NCBI:mim2gene_medline", source="ORDO:25/e", source="Orphanet:25", source="MONDO:equivalentTo", source="NCIT:C99101", source="OMIM:231670"} -is_a: MONDO:0000129 {source="DC-OMIM:231670", source="linkedlife"} ! glutaric aciduria (disease) +is_a: MONDO:0000129 {source="DC-OMIM:231670", source="linkedlifedata"} ! glutaric aciduria (disease) is_a: MONDO:0019058 {source="Orphanet:25"} ! neurometabolic disease is_a: MONDO:0019213 {source="Orphanet:25"} ! cerebral organic aciduria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4189 {source="mim2gene_medgen"} ! GCDH @@ -172575,7 +174165,7 @@ is_a: MONDO:0000129 {source="DC-OMIM:231680"} ! glutaric aciduria (disease) is_a: MONDO:0016117 {source="Orphanet:26791"} ! muscular lipidosis is_a: MONDO:0016328 {source="Orphanet:26791"} ! fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy is_a: MONDO:0017714 {source="Orphanet:26791"} ! acyl-CoA dehydrogenase deficiency -is_a: MONDO:0019052 {source="MONDO:Redundant", source="NCIT:C84907", source="Orphanet:26791/inferred"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:0060358", source="MONDO:Redundant", source="NCIT:C84907", source="Orphanet:26791/inferred"} ! inborn errors of metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3481 {source="mim2gene_medgen"} ! ETFA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3482 {source="mim2gene_medgen"} ! ETFB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3483 {source="mim2gene_medgen"} ! ETFDH @@ -172651,7 +174241,7 @@ xref: OMIM:231950 {source="ORDO:33573/e", source="Orphanet:33573", source="MONDO xref: Orphanet:33573 {source="OMIM:231950", source="MONDO:equivalentTo"} xref: SCTID:78586005 {source="MONDO:kboom-pr-1.00/0.81/10.93", source="MONDO:equivalentTo"} xref: UMLS:C0268524 {source="OMIM:231950", source="NCBI:mim2gene_medline", source="Orphanet:33573", source="MONDO:equivalentTo"} -is_a: MONDO:0019241 {source="Orphanet:33573"} ! inborn disorder of the gamma-glutamyl cycle +is_a: MONDO:0019241 {source="Orphanet:33573", source="linkedlifedata"} ! inborn disorder of the gamma-glutamyl cycle intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0036374 ! glutathione hydrolase activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4250 {source="mim2gene_medgen"} ! GGT1 @@ -172674,14 +174264,16 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8518/absence- [Term] id: MONDO:0009287 -name: glycogen storage disease due to glucose-6-phosphatase deficiency type Ia +name: glycogen storage disease due to glucose-6-phosphatase deficiency type IA def: "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type a, or glycogen storage disease (GSD) type 1a, is a type of glycogenosis due to G6P deficiency (see this term)." [Orphanet:79258] subset: ordo_clinical_subtype {source="Orphanet:79258"} synonym: "G6P deficiency type 1a" EXACT [Orphanet:79258] +synonym: "G6PC glycogen storage disease" EXACT [MONDO:design_pattern] synonym: "glucose-6-phosphatase deficiency" RELATED [OMIM:232200] synonym: "glucose-6-phosphatase deficiency glycogen storage disease" RELATED [GARD:0007864] synonym: "glycogen storage disease 1" RELATED [OMIM:232200] synonym: "glycogen storage disease 1A" RELATED [GARD:0007864] +synonym: "glycogen storage disease caused by mutation in G6PC" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to G6P deficiency type Ia" EXACT [Orphanet:79258] synonym: "glycogen storage disease Ia" RELATED [MONDO:Lexical, OMIM:232200] synonym: "glycogen storage disease Ia; GSD1A" RELATED [OMIM:232200] @@ -172710,8 +174302,10 @@ xref: UMLS:C0017920 {source="Orphanet:79258", source="OMIM:232200"} xref: UMLS:C2919796 {source="Orphanet:79258", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:CN069618 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN205860 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002413 {source="MONDOLEX:0009287", source="linkedlifedata"} ! glycogen storage disease I -is_a: MONDO:0018220 {source="MONDOLEX:0009287", source="Orphanet:79258"} ! glycogen storage disease due to glucose-6-phosphatase deficiency +is_a: MONDO:0002413 {source="MONDOLEX:0009287", source="Orphanet:79258", source="linkedlifedata"} ! glycogen storage disease I +intersection_of: MONDO:0002412 ! glycogen storage disease +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4056 ! G6PC +relationship: disease_has_basis_in_disruption_of GO:0004346 ! glucose-6-phosphatase activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4056 {source="mim2gene_medgen"} ! G6PC property_value: confidence "3.571428571428573" xsd:double @@ -172719,6 +174313,7 @@ property_value: confidence "3.571428571428573" xsd:double id: MONDO:0009288 name: glycogen storage disease due to glucose-6-phosphatase deficiency type IB def: "Glycogenosis due to glucose-6-phosphatase deficiency (G6P) type b, or glycogen storage disease (GSD) type 1b, is a type of glycogenosis due to G6P deficiency (see this term)." [Orphanet:79259] +comment: Editor note: TODO decide whether to merge Ic subset: ordo_clinical_subtype {source="Orphanet:79259"} synonym: "G6P deficiency type IB" EXACT [Orphanet:79259] synonym: "G6P translocase deficiency" EXACT [Orphanet:79259] @@ -172752,15 +174347,16 @@ xref: Orphanet:364 {source="MONDO:subClassOf", source="OMIM:232220"} xref: Orphanet:79259 {source="MONDO:equivalentTo", source="OMIM:232220"} xref: SCTID:30102006 {source="MONDO:kboom-pr-1.00/0.80/9.48", source="MONDO:equivalentTo"} xref: UMLS:C0268146 {source="NCBI:mim2gene_medline", source="Orphanet:79259", source="NCIT:C122661", source="OMIM:232220"} -is_a: MONDO:0002413 {source="MONDOLEX:0009288", source="NCIT:C122661", source="linkedlifedata"} ! glycogen storage disease I +is_a: MONDO:0002413 {source="MESH:C562594", source="MONDO:Redundant", source="MONDOLEX:0009288", source="NCIT:C122661", source="Orphanet:79259", source="linkedlifedata"} ! glycogen storage disease I is_a: MONDO:0018032 {source="Orphanet:79259"} ! constitutional neutropenia with extra-hematopoietic manifestations -is_a: MONDO:0018220 {source="MESH:C562594", source="MONDO:Redundant", source="MONDOLEX:0009288", source="Orphanet:79259"} ! glycogen storage disease due to glucose-6-phosphatase deficiency +relationship: disease_has_basis_in_disruption_of GO:0015152 ! glucose-6-phosphate transmembrane transporter activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4061 {source="mim2gene_medgen"} ! SLC37A4 property_value: confidence "3.571428571428573" xsd:double [Term] id: MONDO:0009289 -name: glycogen storage disease Ic +name: glycogen storage disease IC +comment: This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i synonym: "glycogen storage disease Ic" EXACT [OMIM:232240] synonym: "glycogen storage disease Ic; GSD1C" RELATED [OMIM:232240] synonym: "glycogen storage disease Id" RELATED [OMIM:232240] @@ -172774,7 +174370,7 @@ xref: SCTID:237965005 {source="MONDO:kboom-pr-1.00/0.81/11.67", source="MONDO:eq xref: UMLS:C0342749 {source="NCBI:mim2gene_medline", source="OMIM:232240", source="MONDO:equivalentTo"} xref: UMLS:C0342750 {source="OMIM:232240"} is_a: MONDO:0002412 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! glycogen storage disease -is_a: MONDO:0018220 {source="MONDO:Redundant", source="MONDOLEX:0009289", source="ORDO:364/btnt"} ! glycogen storage disease due to glucose-6-phosphatase deficiency +is_a: MONDO:0002413 {source="MONDO:Redundant", source="MONDOLEX:0009289", source="ORDO:364/btnt"} ! glycogen storage disease I relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4061 {source="mim2gene_medgen"} ! SLC37A4 property_value: confidence "3.571428571428573" xsd:double @@ -172797,10 +174393,12 @@ synonym: "deficiency of glucoamylase" EXACT [DOID:2752, SCTID:124454007] synonym: "deficiency of lysosomal alpha-glucosidase" RELATED [GARD:0005714] synonym: "deficiency of maltase" EXACT [DOID:2752, SCTID:124462004] synonym: "GAA deficiency" RELATED [OMIM:232300] +synonym: "GAA glycogen storage disease" EXACT [MONDO:design_pattern] synonym: "generalized glycogenosis" EXACT [DOID:2752] synonym: "generalized glycogenosis (disorder)" EXACT [DOID:2752, SCTID:267424007] synonym: "glucosidase acid-1,4-alpha deficiency" RELATED [GARD:0002503] synonym: "glycogen storage disease 2" RELATED [OMIM:232300] +synonym: "glycogen storage disease caused by mutation in GAA" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to acid maltase deficiency" RELATED [Orphanet:365] synonym: "glycogen storage disease II" EXACT [MONDO:Lexical, OMIM:232300] synonym: "glycogen storage disease II; GSD2" RELATED [OMIM:232300] @@ -172844,12 +174442,14 @@ xref: UMLS:C0017921 {source="DOID:2752", source="OMIM:232300", source="Orphanet: xref: UMLS:C1968741 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} xref: UMLS:C2931347 {source="OMIM:232300"} xref: UMLS:C3695005 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0002412 {source="DC-OMIM:232300", source="DOID:2752", source="NCIT:C84734", source="Orphanet:365"} ! glycogen storage disease +is_a: MONDO:0002412 {source="DC-OMIM:232300", source="DOID:2752", source="DOID:2752/inferred", source="NCIT:C84734", source="Orphanet:365"} ! glycogen storage disease is_a: MONDO:0016118 {source="Orphanet:365"} ! muscular glycogenosis is_a: MONDO:0016325 {source="Orphanet:365"} ! glycogen storage disease with hypertrophic cardiomyopathy is_a: MONDO:0016326 {source="Orphanet:365"} ! lysosomal disease with hypertrophic cardiomyopathy is_a: MONDO:0016341 {source="Orphanet:365"} ! lysosomal disease with restrictive cardiomyopathy is_a: MONDO:0017738 {source="Orphanet:365"} ! lysosomal glycogen storage disease +intersection_of: MONDO:0002412 ! glycogen storage disease +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4065 ! GAA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4065 {source="mim2gene_medgen"} ! GAA property_value: confidence "12.055555555555555" xsd:double @@ -172859,6 +174459,7 @@ name: glycogen storage disease III def: "Glycogen debranching enzyme (GDE) deficiency, or glycogen storage disease type 3 (GSD 3), is a form of glycogen storage disease characterized by severe muscle weakness and hepatopathy." [Orphanet:366] subset: ordo_disease {source="Orphanet:366"} synonym: "Agl deficiency" RELATED [OMIM:232400] +synonym: "AGL glycogen storage disease" EXACT [MONDO:design_pattern] synonym: "amylo 1,6 glucosidase deficiency" EXACT [CSP2005:1849-3893, DOID:2748] synonym: "amylo-1,6-glucosidase deficiency" EXACT [Orphanet:366] synonym: "amylo-1,6-glucosidase deficiency" RELATED [OMIM:232400] @@ -172873,11 +174474,12 @@ synonym: "GDE deficiency" EXACT [Orphanet:366] synonym: "Gde deficiency" RELATED [OMIM:232400] synonym: "glycogen Debrancher deficiency" RELATED [OMIM:232400] synonym: "glycogen storage disease 3" RELATED [OMIM:232400] +synonym: "glycogen storage disease caused by mutation in AGL" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to glycogen debranching enzyme deficiency" RELATED [Orphanet:366] synonym: "glycogen storage disease III" EXACT [MONDO:Lexical, OMIM:232400] synonym: "glycogen storage disease III; GSD3" RELATED [OMIM:232400] -synonym: "glycogen storage disease Iiia" RELATED [OMIM:232400] -synonym: "glycogen storage disease Iiib" RELATED [OMIM:232400] +synonym: "glycogen storage disease IIIa" RELATED [OMIM:232400] +synonym: "glycogen storage disease IIIb" RELATED [OMIM:232400] synonym: "glycogen storage disease IIIC" RELATED [OMIM:232400] synonym: "glycogen storage disease IIID" RELATED [OMIM:232400] synonym: "glycogen storage disease type 3" EXACT [MONDORULE:1, OMIM:232400, Orphanet:366] @@ -172910,8 +174512,10 @@ xref: UMLS:C1968741 {source="OMIM:232400", source="MONDO:directSiblingOf"} xref: UMLS:C1968742 {source="OMIM:232400"} xref: UMLS:C2936915 {source="Orphanet:366", source="ORDO:366/e"} xref: UMLS:CN204781 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002412 {source="NCIT:C84736", source="Orphanet:366", source="linkedlifedata"} ! glycogen storage disease +is_a: MONDO:0002412 {source="DOID:2748", source="DOID:2748/inferred", source="NCIT:C84736", source="Orphanet:366", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease is_a: MONDO:0016325 {source="Orphanet:366"} ! glycogen storage disease with hypertrophic cardiomyopathy +intersection_of: MONDO:0002412 ! glycogen storage disease +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/321 ! AGL relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/321 {source="mim2gene_medgen"} ! AGL property_value: confidence "0.2757499999999997" xsd:double @@ -172923,6 +174527,7 @@ subset: ordo_disease {source="Orphanet:367"} synonym: "amylopectinosis" EXACT [DOID:2750, MTHICD9_2006:271.0, Orphanet:367] synonym: "amylopectinosis" RELATED [OMIM:232500] synonym: "Andersen disease" EXACT [OMIM:232500, Orphanet:367] +synonym: "Andersen's disease" EXACT [] synonym: "brancher deficiency" RELATED [OMIM:232500] synonym: "brancher deficiency glycogenosis" EXACT [CSP2005:1849-3950, DOID:2750] synonym: "branching-transferase deficiency glycogenosis" EXACT [DOID:2750] @@ -172930,8 +174535,10 @@ synonym: "branching-transferase deficiency glycogenosis (disorder)" EXACT [DOID: synonym: "cirrhosis, familial, with deposition of abnormal glycogen" RELATED [OMIM:232500] synonym: "deficiency of 1,4-alpha-glucan branching enzyme" EXACT [DOID:2750, SCTID:124267007] synonym: "Gbe1 deficiency" RELATED [OMIM:232500] +synonym: "GBE1 glycogen storage disease" EXACT [MONDO:design_pattern] synonym: "glycogen branching enzyme deficiency" RELATED [OMIM:232500] synonym: "glycogen storage disease 4" RELATED [OMIM:232500] +synonym: "glycogen storage disease caused by mutation in GBE1" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease IV" RELATED [MONDO:Lexical, OMIM:232500] synonym: "glycogen storage disease IV; GSD4" RELATED [OMIM:232500] synonym: "glycogen storage disease type 4" EXACT [MONDORULE:1, OMIM:232500, Orphanet:367] @@ -172945,12 +174552,12 @@ synonym: "glycogenosis type IV" EXACT [Orphanet:367] synonym: "GSD 4" RELATED [OMIM:232500] synonym: "GSD due to glycogen branching enzyme deficiency" EXACT [Orphanet:367] synonym: "GSD IV" RELATED [GARD:0002520] -synonym: "GSD Iv, classic hepatic" RELATED [OMIM:232500] -synonym: "GSD Iv, neuromuscular form, adult, with isolated Myopathy" RELATED [OMIM:232500] -synonym: "GSD Iv, neuromuscular form, childhood" RELATED [OMIM:232500] -synonym: "GSD Iv, neuromuscular form, congenital" RELATED [OMIM:232500] -synonym: "GSD Iv, neuromuscular form, fatal perinatal" RELATED [OMIM:232500] -synonym: "GSD Iv, nonprogressive hepatic" RELATED [OMIM:232500] +synonym: "GSD IV, classic hepatic" RELATED [OMIM:232500] +synonym: "GSD IV, neuromuscular form, adult, with isolated Myopathy" RELATED [OMIM:232500] +synonym: "GSD IV, neuromuscular form, childhood" RELATED [OMIM:232500] +synonym: "GSD IV, neuromuscular form, congenital" RELATED [OMIM:232500] +synonym: "GSD IV, neuromuscular form, fatal perinatal" RELATED [OMIM:232500] +synonym: "GSD IV, nonprogressive hepatic" RELATED [OMIM:232500] synonym: "GSD type 4" EXACT [Orphanet:367] synonym: "GSD type IV" EXACT [Orphanet:367] synonym: "GSD4" RELATED [MONDO:Lexical, OMIM:232500] @@ -172977,10 +174584,12 @@ xref: UMLS:C1856304 {source="OMIM:232500", source="MONDO:superClassOf"} xref: UMLS:C1856305 {source="OMIM:232500", source="MONDO:superClassOf"} xref: UMLS:C1856306 {source="OMIM:232500"} xref: UMLS:CN204783 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002412 {source="DC-OMIM:232500", source="DOID:2750", source="NCIT:C84737", source="Orphanet:367"} ! glycogen storage disease +is_a: MONDO:0002412 {source="DC-OMIM:232500", source="DOID:2750", source="DOID:2750/inferred", source="NCIT:C84737", source="Orphanet:367"} ! glycogen storage disease is_a: MONDO:0015115 {source="Orphanet:367"} ! rare metabolic liver disease is_a: MONDO:0016118 {source="Orphanet:367"} ! muscular glycogenosis is_a: MONDO:0016333 {source="Orphanet:367"} ! familial dilated cardiomyopathy +intersection_of: MONDO:0002412 ! glycogen storage disease +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4180 ! GBE1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4180 {source="mim2gene_medgen"} ! GBE1 property_value: confidence "0.2757499999999997" xsd:double @@ -172990,6 +174599,7 @@ name: glycogen storage disease V def: "Myophosphorylase deficiency (McArdle's disease), or glycogen storage disease type 5 (GSD5) , is a severe form of glycogen storage disease characterized by exercise intolerance." [Orphanet:368] subset: ordo_disease {source="Orphanet:368"} synonym: "glycogen storage disease 5" RELATED [OMIM:232600] +synonym: "glycogen storage disease caused by mutation in PYGM" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to muscle glycogen phosphorylase deficiency" RELATED [Orphanet:368] synonym: "glycogen storage disease type 5" EXACT [MONDORULE:1, OMIM:232600, Orphanet:368] synonym: "glycogen storage disease type V" EXACT [DOID:2746, MONDORULE:1, Orphanet:368] @@ -173012,6 +174622,7 @@ synonym: "McArdle's disease" EXACT [DOID:2746, MTHICD9_2006:271.0] synonym: "muscle glycogen phosphorylase deficiency" RELATED [OMIM:232600] synonym: "myophosphorylase deficiency" EXACT [CSP2005:1849-4007, DOID:2746, OMIM:232600, Orphanet:368] synonym: "Pygm deficiency" RELATED [OMIM:232600] +synonym: "PYGM glycogen storage disease" EXACT [MONDO:design_pattern] xref: DOID:2746 {source="MONDO:equivalentTo"} xref: GARD:0006528 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:E74.0 {source="ORDO:368/inclusion", source="ORDO:368/ntbt", source="MONDO:subClassOf", source="Orphanet:368"} @@ -173025,8 +174636,10 @@ xref: Orphanet:368 {source="OMIM:232600", source="MONDO:equivalentTo"} xref: SCTID:55912009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2746", source="MONDO:equivalentTo"} xref: UMLS:C0017924 {source="OMIM:232600", source="NCBI:mim2gene_medline", source="NCIT:C84738", source="DOID:2746", source="MONDO:equivalentTo", source="ORDO:368/e", source="Orphanet:368"} xref: UMLS:C2936916 {source="ORDO:368/e", source="Orphanet:368"} -is_a: MONDO:0002412 {source="DC-OMIM:232600", source="DOID:2746", source="MESH:D006012", source="NCIT:C84738", source="Orphanet:368", source="linkedlifedata"} ! glycogen storage disease +is_a: MONDO:0002412 {source="DC-OMIM:232600", source="DOID:2746", source="DOID:2746/inferred", source="MESH:D006012", source="NCIT:C84738", source="Orphanet:368", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease is_a: MONDO:0016118 {source="Orphanet:368"} ! muscular glycogenosis +intersection_of: MONDO:0002412 ! glycogen storage disease +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9726 ! PYGM relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9726 {source="mim2gene_medgen"} ! PYGM property_value: confidence "12.055555555555555" xsd:double @@ -173036,6 +174649,7 @@ name: glycogen storage disease VI def: "Liver phosphorylase deficiency, or glycogen storage disease type 6b (Hers' disease, GSD 6b) is a benign and rare form of glycogen storage disease." [Orphanet:369] subset: ordo_disease {source="Orphanet:369"} synonym: "glycogen storage disease 6" RELATED [GARD:0006529, OMIM:232700] +synonym: "glycogen storage disease caused by mutation in PYGL" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to liver glycogen phosphorylase deficiency" RELATED [Orphanet:369] synonym: "glycogen storage disease type 6" EXACT [MONDORULE:1, OMIM:232700, Orphanet:369] synonym: "glycogen storage disease type VI" EXACT [DOID:2754, MONDORULE:3, Orphanet:369] @@ -173053,10 +174667,11 @@ synonym: "hepatic glycogen phosphorylase deficiency" EXACT [Orphanet:369] synonym: "hepatic glycogen phosphorylase deficiency (disorder)" EXACT [DOID:2754, SCTID:237971004] synonym: "hepatic phosphorylase deficiency" EXACT [Orphanet:369] synonym: "hepatophosphorylase deficiency glycogenosis" EXACT [CSP2005:1849-4064, DOID:2754] -synonym: "hers disease" EXACT [OMIM:232700, Orphanet:369] -synonym: "hers' disease" EXACT [DOID:2754] +synonym: "Hers disease" EXACT [OMIM:232700, Orphanet:369] +synonym: "Hers' disease" EXACT [DOID:2754] synonym: "liver glycogen phosphorylase deficiency" EXACT [Orphanet:369] synonym: "phosphorylase deficiency glycogen-storage disease of liver" RELATED [OMIM:232700] +synonym: "PYGL glycogen storage disease" EXACT [MONDO:design_pattern] xref: DOID:2754 {source="MONDO:equivalentTo"} xref: GARD:0006529 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:E74.0 {source="ORDO:369/ntbt", source="MONDO:subClassOf", source="ORDO:369/inclusion", source="Orphanet:369"} @@ -173070,8 +174685,10 @@ xref: SCTID:237971004 {source="DOID:2754"} xref: SCTID:29291001 {source="DOID:2754", source="MONDO:kboom-pr-1.00/0.81/10.89", source="MONDO:equivalentTo"} xref: UMLS:C0017925 {source="DOID:2754", source="NCBI:mim2gene_medline", source="NCIT:C126875", source="ORDO:369/e", source="MONDO:equivalentTo", source="Orphanet:369"} xref: UMLS:C1419156 {source="OMIM:232700"} -is_a: MONDO:0002412 {source="DC-OMIM:232700", source="DOID:2754", source="MESH:D006013", source="NCIT:C126875", source="Orphanet:369", source="linkedlifedata"} ! glycogen storage disease +is_a: MONDO:0002412 {source="DC-OMIM:232700", source="DOID:2754", source="DOID:2754/inferred", source="MESH:D006013", source="NCIT:C126875", source="Orphanet:369", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease is_a: MONDO:0015115 {source="Orphanet:369"} ! rare metabolic liver disease +intersection_of: MONDO:0002412 ! glycogen storage disease +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9725 ! PYGL relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9725 {source="mim2gene_medgen"} ! PYGL property_value: confidence "106.50000000000014" xsd:double @@ -173081,6 +174698,7 @@ name: glycogen storage disease VII def: "Muscle phosphofructokinase (PFK) deficiency (Tarui's disease), or glycogen storage disease type 7 (GSD7), is a rare form of glycogen storage disease characterized by exertional fatigue and muscular exercise intolerance. It occurs in childhood." [Orphanet:371] subset: ordo_disease {source="Orphanet:371"} synonym: "glycogen storage disease 7" RELATED [OMIM:232800] +synonym: "glycogen storage disease caused by mutation in PFKM" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to muscle phosphofructokinase deficiency" RELATED [Orphanet:371] synonym: "glycogen storage disease type 7" EXACT [MONDORULE:1, OMIM:232800, Orphanet:371] synonym: "glycogen storage disease type VII" EXACT [DOID:11721, MONDORULE:3, Orphanet:371] @@ -173100,6 +174718,7 @@ synonym: "GSDVII" EXACT [NCIT:C118437] synonym: "muscle phosphofructokinase deficiency" RELATED [OMIM:232800] synonym: "muscle phosphofructokinase deficiency (disorder)" EXACT [DOID:11721, SCTID:234406005] synonym: "Pfkm deficiency" RELATED [OMIM:232800] +synonym: "PFKM glycogen storage disease" EXACT [MONDO:design_pattern] synonym: "phosphofructokinase deficiency" EXACT [NCIT:C118437] synonym: "phosphofructokinase myopathy" EXACT [CSP2005:1849-4121, DOID:11721] synonym: "Tarui disease" EXACT [OMIM:232800, Orphanet:371] @@ -173115,9 +174734,11 @@ xref: Orphanet:371 {source="OMIM:232800", source="MONDO:equivalentTo"} xref: SCTID:234406005 {source="DOID:11721"} xref: SCTID:89597008 {source="DOID:11721", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0017926 {source="DOID:11721", source="NCBI:mim2gene_medline", source="NCIT:C118437", source="ORDO:371/e", source="OMIM:232800", source="Orphanet:371", source="MONDO:equivalentTo"} -is_a: MONDO:0002412 {source="DC-OMIM:232800", source="DOID:11721", source="MESH:D006014", source="NCIT:C118437", source="Orphanet:371", source="linkedlifedata"} ! glycogen storage disease +is_a: MONDO:0002412 {source="DC-OMIM:232800", source="DOID:11721", source="DOID:11721/inferred", source="MESH:D006014", source="NCIT:C118437", source="Orphanet:371", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease is_a: MONDO:0016118 {source="Orphanet:371"} ! muscular glycogenosis is_a: MONDO:0020106 {source="Orphanet:371"} ! hemolytic anemia due to a disorder of glycolytic enzymes +intersection_of: MONDO:0002412 ! glycogen storage disease +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8877 ! PFKM relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8877 {source="mim2gene_medgen"} ! PFKM property_value: confidence "12.055555555555555" xsd:double @@ -173131,8 +174752,8 @@ xref: OMIM:232900 {source="MONDO:equivalentTo"} xref: SCTID:7810004 {source="MONDO:equivalentTo"} xref: UMLS:C0268220 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} xref: UMLS:C1856275 {source="NCBI:mim2gene_medline", source="OMIM:232900", source="MONDO:equivalentTo"} -is_a: MONDO:0002561 {source="linkedlife"} ! lysosomal storage disease -is_a: MONDO:0003847 {source="MESH:C565538/inferred"} ! inherited genetic disease +is_a: MONDO:0002561 {source="linkedlifedata"} ! lysosomal storage disease +is_a: MONDO:0003847 {source="MESH:C565538/inferred", source="linkedlifedata/inferred"} ! inherited genetic disease [Term] id: MONDO:0009297 @@ -173219,8 +174840,8 @@ xref: Orphanet:243 {source="DOID:14450", source="OMIM:233300", source="MONDO:equ xref: SCTID:95198001 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"} xref: UMLS:C0685837 {source="Orphanet:243", source="ORDO:243/e"} xref: UMLS:C0949595 {source="NCBI:mim2gene_medline", source="Orphanet:243", source="DOID:14450", source="NCIT:C120197", source="OMIM:233300", source="ORDO:243/e", source="MONDO:equivalentTo"} -is_a: MONDO:0001967 {source="DOID:14450", source="MESH:D023961", source="NCIT:C120197", source="linkedlifedata"} ! gonadal dysgenesis -is_a: MONDO:0005558 {source="OMIM:233300", source="Orphanet:243/inferred"} ! ovarian disease +is_a: MONDO:0001967 {source="DOID:14450", source="MESH:D023961", source="NCIT:C120197", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonadal dysgenesis +is_a: MONDO:0005558 {source="OMIM:233300", source="Orphanet:243/inferred", source="linkedlifedata/inferred"} ! ovarian disease is_a: MONDO:0017961 {source="Orphanet:243"} ! 46,XX disorder of gonadal development is_a: MONDO:0018402 {source="Orphanet:243"} ! female infertility due to gonadal dysgenesis is_a: MONDO:0019852 {source="Orphanet:243"} ! inherited primary ovarian failure @@ -173231,9 +174852,11 @@ id: MONDO:0009300 name: Perrault syndrome 1 def: "Any Perrault syndrome in which the cause of the disease is a mutation in the HSD17B4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "gonadal dysgenesis, 20 type, with deafness" RELATED [OMIM:233400] +synonym: "HSD17B4 Perrault syndrome" EXACT [MONDO:design_pattern] synonym: "ovarian dysgenesis with sensorineural deafness" RELATED [OMIM:233400] synonym: "Perrault syndrome 1" EXACT [MONDO:Lexical, OMIM:233400] synonym: "Perrault syndrome 1; PRLTS1" RELATED [OMIM:233400] +synonym: "Perrault syndrome caused by mutation in HSD17B4" EXACT [MONDO:design_pattern] synonym: "Perrault syndrome type 1" EXACT [MONDORULE:1, OMIM:233400] synonym: "PRLTS1" RELATED [MONDO:Lexical, OMIM:233400] xref: OMIM:233400 {source="MONDO:equivalentTo"} @@ -173316,7 +174939,7 @@ xref: SCTID:266323005 {source="DOID:9808"} xref: SCTID:50581000 {source="DOID:9808"} xref: UMLS:C0403529 {source="NCBI:mim2gene_medline", source="Orphanet:375", source="NCIT:C84566", source="OMIM:233450", source="ORDO:375/e", source="DOID:9808", source="MONDO:equivalentTo"} is_a: MONDO:0000603 {source="MONDO:Entailed"} ! autoimmune disease of cardiovascular system -is_a: MONDO:0007179 {source="EFO:0007290", source="MESH:D019867", source="MONDO:Redundant", source="NCIT:C84566"} ! autoimmune disease +is_a: MONDO:0007179 {source="DOID:9808", source="EFO:0007290", source="MESH:D019867", source="MONDO:Redundant", source="NCIT:C84566"} ! autoimmune disease is_a: MONDO:0015490 {source="Orphanet:375"} ! predominantly small-vessel vasculitis is_a: MONDO:0017035 {source="Orphanet:375"} ! secondary interstitial lung disease in childhood and adulthood associated with a systemic disease is_a: MONDO:0019724 {source="Orphanet:375"} ! secondary glomerular disease @@ -173419,14 +175042,16 @@ name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive def: "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CDG1" RELATED [OMIM:233700] synonym: "CGD, autosomal recessive cytochrome B-positive, type 1" RELATED [OMIM:233700] +synonym: "chronic granulomatous disease caused by mutation in NCF1" EXACT [MONDO:design_pattern] synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I" RELATED [OMIM:233700] synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type I; CDG1" RELATED [OMIM:233700] synonym: "granulomatous disease, chronic, due to Ncf1 deficiency" RELATED [OMIM:233700] +synonym: "NCF1 chronic granulomatous disease" EXACT [MONDO:design_pattern] synonym: "Ncf1, deficiency of" RELATED [OMIM:233700] synonym: "neutrophil cytosol Factor 1, deficiency of" RELATED [OMIM:233700] synonym: "p47-PHOX, deficiency of" RELATED [OMIM:233700] synonym: "Soc2, deficiency of" RELATED [OMIM:233700] -synonym: "soluble oxidase component Ii, deficiency of" RELATED [OMIM:233700] +synonym: "soluble oxidase component II, deficiency of" RELATED [OMIM:233700] xref: MESH:C565532 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:233700 {source="MONDO:equivalentTo"} xref: Orphanet:379 {source="OMIM:233700", source="MONDO:subClassOf"} @@ -173443,9 +175068,11 @@ name: granulomatous disease, chronic, autosomal recessive, cytochrome b-positive def: "Any chronic granulomatous disease in which the cause of the disease is a mutation in the NCF2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CDG2" RELATED [OMIM:233710] synonym: "CGD, autosomal recessive cytochrome B-positive, type 2" RELATED [OMIM:233710] +synonym: "chronic granulomatous disease caused by mutation in NCF2" EXACT [MONDO:design_pattern] synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II" RELATED [OMIM:233710] synonym: "granulomatous disease, chronic, autosomal recessive, cytochrome b-POSITIVE, type II; CDG2" RELATED [OMIM:233710] synonym: "granulomatous disease, chronic, due to Ncf2 deficiency" RELATED [OMIM:233710] +synonym: "NCF2 chronic granulomatous disease" EXACT [MONDO:design_pattern] synonym: "Ncf2, deficiency of" RELATED [OMIM:233710] synonym: "neutrophil cytosol Factor 2, deficiency of" RELATED [OMIM:233710] synonym: "P67-PHOX, deficiency of" RELATED [OMIM:233710] @@ -173543,7 +175170,7 @@ xref: SCTID:23447005 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equ xref: UMLS:C0268467 {source="NCBI:mim2gene_medline", source="OMIM:233910", source="ORDO:2102/e", source="Orphanet:2102", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} xref: UMLS:C2673535 {source="OMIM:233910", source="MONDO:subClassOf"} is_a: MONDO:0011551 ! autosomal recessive dopa-responsive dystonia -is_a: MONDO:0016543 {source="DC-OMIM:233910", source="MONDOLEX:0009314", source="Orphanet:2102"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency +is_a: MONDO:0016543 {source="DC-OMIM:233910", source="MONDOLEX:0009314", source="Orphanet:2102", source="linkedlifedata"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency relationship: disease_has_basis_in_disruption_of GO:0046146 ! tetrahydrobiopterin metabolic process relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4193 {source="mim2gene_medgen"} ! GCH1 property_value: confidence "0.33333333333333304" xsd:double @@ -173626,7 +175253,7 @@ synonym: "Hallermann's syndrome" EXACT [DOID:4534] synonym: "Hallermann-Streiff syndrome" EXACT [MONDO:Lexical, OMIM:234100] synonym: "Hallermann-Streiff syndrome; HSS" RELATED [OMIM:234100] synonym: "HSS" RELATED [MONDO:Lexical, OMIM:234100] -synonym: "Oculomandibulofacial syndrome" EXACT [Orphanet:2108] +synonym: "oculomandibulofacial syndrome" EXACT [Orphanet:2108] xref: DOID:4534 {source="MONDO:equivalentTo"} xref: GARD:0000288 {source="MONDO:equivalentTo"} xref: ICD10:Q87.0 {source="ORDO:2108/index", source="Orphanet:2108", source="ORDO:2108/ntbt"} @@ -173637,12 +175264,12 @@ xref: Orphanet:2108 {source="DOID:4534", source="MONDO:equivalentTo", source="OM xref: SCTID:205417000 {source="DOID:4534"} xref: SCTID:7903009 {source="DOID:4534", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0018522 {source="DOID:4534", source="NCBI:mim2gene_medline", source="Orphanet:2108", source="NCIT:C84746", source="MONDO:equivalentTo", source="ORDO:2108/e", source="OMIM:234100"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84746"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:4534", source="MONDO:Redundant", source="NCIT:C84746"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:2108"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015162 {source="Orphanet:2108"} ! rare syndromic intellectual disability -is_a: MONDO:0015329 {source="Orphanet:2108"} ! malformation syndrome with short stature +is_a: MONDO:0015329 {source="Orphanet:2108", source="linkedlifedata/inferred"} ! malformation syndrome with short stature is_a: MONDO:0015983 {source="Orphanet:2108"} ! rare genetic syndromic intellectual disability -is_a: MONDO:0019287 {source="Orphanet:2108", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="Orphanet:2108", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0019303 {source="Orphanet:2108"} ! premature aging is_a: MONDO:0019699 {source="Orphanet:2108"} ! slender bone dysplasia is_a: MONDO:0020188 {source="Orphanet:2108"} ! congenital absence of the eyebrow/eyelashes @@ -173782,7 +175409,7 @@ is_a: MONDO:0004736 {source="DOID:1060"} ! inherited amino acid metabolic disord is_a: MONDO:0015951 {source="Orphanet:2116"} ! genetic photodermatosis is_a: MONDO:0017687 {source="Orphanet:2116"} ! disorder of neutral amino acid transport is_a: MONDO:0019058 {source="Orphanet:2116"} ! neurometabolic disease -is_a: MONDO:0019216 {source="Orphanet:2116/inferred", source="linkedlife"} ! inborn disorder of amino acid absorption and transport +is_a: MONDO:0019216 {source="Orphanet:2116/inferred", source="linkedlifedata"} ! inborn disorder of amino acid absorption and transport is_a: MONDO:0019304 {source="Orphanet:2116"} ! rare photodermatosis is_a: MONDO:0019743 {source="Orphanet:2116"} ! nephropathy secondary to a storage or other metabolic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/27960 {source="mim2gene_medgen"} ! SLC6A19 @@ -173811,7 +175438,7 @@ xref: SCTID:721085000 {source="MONDO:kboom-pr-1.00/0.75/6.82", source="MONDO:equ xref: UMLS:C1856186 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015336 {source="Orphanet:3220"} ! malformation syndrome with odontal and/or periodontal component is_a: MONDO:0019234 {source="OMIM:234580"} ! peroxisome biogenesis disorder -is_a: MONDO:0019287 {source="Orphanet:3220", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="Orphanet:3220", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0019589 {source="Orphanet:3220"} ! syndromic genetic deafness property_value: confidence "4.000000000000001" xsd:double @@ -173903,7 +175530,7 @@ xref: NCIT:C4301 {source="MONDO:equivalentTo"} xref: OMIM:234820 {source="MONDO:equivalentTo"} xref: Orphanet:2126 {source="OMIM:234820", source="MONDO:subClassOf"} xref: UMLS:C0334542 {source="OMIM:234820", source="NCBI:mim2gene_medline", source="NCIT:C4301", source="MONDO:equivalentTo"} -is_a: MONDO:0005094 {source="NCIT:C4301"} ! hemangiopericytoma +is_a: MONDO:0005094 {source="MESH:C562740", source="NCIT:C4301"} ! hemangiopericytoma is_a: MONDO:0016238 {source="MONDOLEX:0009330", source="ORDO:2126/btnt"} ! solitary fibrous tumor is_a: MONDO:0017127 {source="OWLReasoner:2017"} ! inherited soft tissue tumor property_value: confidence "28.000000000000053" xsd:double @@ -174004,10 +175631,12 @@ property_value: confidence "2.350933786078099" xsd:double id: MONDO:0009337 name: Hennekam lymphangiectasia-lymphedema syndrome 1 def: "Any Hennekam syndrome in which the cause of the disease is a mutation in the CCBE1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CCBE1 Hennekam syndrome" EXACT [MONDO:design_pattern] synonym: "Hennekam lymphangiectasia-lymphedema syndrome" RELATED [OMIM:235510] synonym: "Hennekam lymphangiectasia-lymphedema syndrome 1" EXACT [MONDO:Lexical, OMIM:235510] synonym: "Hennekam lymphangiectasia-lymphedema syndrome 1; HKLLS1" RELATED [OMIM:235510] synonym: "Hennekam lymphangiectasia-lymphedema syndrome type 1" EXACT [MONDORULE:1, OMIM:235510] +synonym: "Hennekam syndrome caused by mutation in CCBE1" EXACT [MONDO:design_pattern] synonym: "HKLLS1" RELATED [MONDO:Lexical, OMIM:235510] synonym: "lymphatic dysplasia, generalized" RELATED [OMIM:235510] xref: OMIM:235510 {source="MONDO:equivalentTo"} @@ -174052,6 +175681,7 @@ id: MONDO:0009339 name: congenital bile acid synthesis defect 2 def: "Congenital bile acid synthesis defect type 2 (BAS defect type 2) is an anomaly of bile acid synthesis (see this term) characterized by severe and rapidly progressive cholestatic liver disease, and malabsorption of fat and fat-soluble vitamins." [Orphanet:79303] subset: ordo_disease {source="Orphanet:79303"} +synonym: "AKR1D1 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern] synonym: "BASD2" EXACT [Orphanet:79303] synonym: "bile acid synthesis defect, congenital, 2" RELATED [MONDO:Lexical, OMIM:235555] synonym: "bile acid synthesis defect, congenital, 2; CBAS2" RELATED [OMIM:235555] @@ -174059,6 +175689,7 @@ synonym: "bile acid synthesis defect, congenital, type 2" EXACT [MONDORULE:1, OM synonym: "CBAS2" EXACT [DOID:0111069, MONDO:Lexical, OMIM:235555] synonym: "cholestasis with Delta(4)-3-oxosteroid 5-Beta-reductase deficiency" RELATED [OMIM:235555] synonym: "cholestasis with delta(4)-3-oxosteroid 5-beta-reductase deficiency" EXACT [DOID:0111069, Orphanet:79303] +synonym: "congenital bile acid synthesis defect caused by mutation in AKR1D1" EXACT [MONDO:design_pattern] synonym: "congenital bile acid synthesis defect type 2" EXACT [DOID:0111069, MONDORULE:1] synonym: "congenital bile acid synthesis defect, type 2" RELATED [GARD:0010045] xref: DOID:0111069 {source="MONDO:equivalentTo"} @@ -174120,7 +175751,7 @@ xref: OMIM:235730 {source="Orphanet:2152", source="ORDO:2152/e", source="DOID:00 xref: Orphanet:2152 {source="DOID:0060485", source="OMIM:235730", source="MONDO:equivalentTo"} xref: SCTID:703535000 {source="DOID:0060485", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1856113 {source="NCBI:mim2gene_medline", source="Orphanet:2152", source="ORDO:2152/e", source="DOID:0060485", source="NCIT:C74999", source="OMIM:235730", source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C74999"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060485", source="MONDO:Redundant", source="NCIT:C74999"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2152"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:2152"} ! rare syndromic intellectual disability is_a: MONDO:0015212 {source="Orphanet:2152"} ! syndromic intestinal malformation @@ -174245,7 +175876,7 @@ xref: OMIM:235900 {source="MONDO:equivalentTo"} xref: SCTID:234577004 {source="MONDO:kboom-pr-0.74/0.37/0.54", source="MONDO:equivalentTo"} xref: UMLS:C0334125 {source="NCBI:mim2gene_medline", source="OMIM:235900", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="MESH:C562738"} ! inherited genetic disease -is_a: MONDO:0024627 {source="linkedlife"} ! phagocytic cell dysfunction +is_a: MONDO:0024627 {source="linkedlifedata"} ! phagocytic cell dysfunction [Term] id: MONDO:0009348 @@ -174347,7 +175978,7 @@ xref: SCTID:61764000 {source="MONDO:kboom-pr-0.88/0.74/0.23", source="MONDO:equi xref: UMLS:C0268632 {source="NCBI:mim2gene_medline", source="OMIM:236130", source="ORDO:2168/e", source="Orphanet:2168", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} xref: UMLS:C3495554 {source="Orphanet:2168", source="MEDGEN:kboom-pr95-c96", source="MONDO:equivalentTo"} is_a: MONDO:0000698 {source="DOID:0060177"} ! gamma-amino butyric acid metabolism disorder -is_a: MONDO:0004736 {source="MESH:C535328", source="MONDO:Redundant"} ! inherited amino acid metabolic disorder +is_a: MONDO:0004736 {source="DOID:0060177/inferred", source="MESH:C535328", source="MONDO:Redundant"} ! inherited amino acid metabolic disorder is_a: MONDO:0019232 {source="Orphanet:2168"} ! inborn disorder of peptide metabolism property_value: confidence "0.009375000000000133" xsd:double @@ -174379,7 +176010,7 @@ is_a: MONDO:0015218 {source="Orphanet:394"} ! syndromic developmental defect of is_a: MONDO:0015327 {source="MONDO:Entailed", source="Orphanet:394"} ! developmental anomaly of metabolic origin is_a: MONDO:0016399 {source="Orphanet:394"} ! amino acid or protein metabolism disease with epilepsy is_a: MONDO:0019058 {source="Orphanet:394"} ! neurometabolic disease -is_a: MONDO:0019222 {source="Orphanet:394"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism +is_a: MONDO:0019222 {source="Orphanet:394", source="linkedlifedata"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism is_a: MONDO:0020222 {source="Orphanet:394"} ! rare disease with glaucoma as a major feature is_a: MONDO:0020236 {source="Orphanet:394"} ! lens position anomaly is_a: MONDO:0020280 {source="Orphanet:394"} ! metabolic disease with cataract @@ -174524,6 +176155,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11 id: MONDO:0009360 name: hydrocephalus, nonsyndromic, autosomal recessive 1 def: "Any congenital hydrocephalus in which the cause of the disease is a mutation in the CCDC88C gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CCDC88C congenital hydrocephalus" EXACT [MONDO:design_pattern] +synonym: "congenital hydrocephalus caused by mutation in CCDC88C" EXACT [MONDO:design_pattern] synonym: "HYC1" RELATED [MONDO:Lexical, OMIM:236600] synonym: "hydrocephalus, nonsyndromic, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:236600] synonym: "hydrocephalus, nonsyndromic, autosomal recessive 1; HYC1" RELATED [OMIM:236600] @@ -174631,7 +176264,9 @@ def: "Any hydrolethalus syndrome in which the cause of the disease is a mutation synonym: "HLS1" RELATED [MONDO:Lexical, OMIM:236680] synonym: "hydrolethalus syndrome 1" EXACT [MONDO:Lexical, OMIM:236680] synonym: "hydrolethalus syndrome 1; HLS1" RELATED [OMIM:236680] +synonym: "hydrolethalus syndrome caused by mutation in HYLS1" EXACT [MONDO:design_pattern] synonym: "hydrolethalus syndrome type 1" EXACT [MONDORULE:1, OMIM:236680] +synonym: "HYLS1 hydrolethalus syndrome" EXACT [MONDO:design_pattern] xref: MESH:C565504 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:236680 {source="MONDO:equivalentTo"} xref: Orphanet:2189 {source="OMIM:236680", source="MONDO:subClassOf"} @@ -174890,7 +176525,7 @@ xref: OMIM:237300 {source="Orphanet:147", source="DOID:9280", source="ORDO:147/e xref: Orphanet:147 {source="MONDO:equivalentTo", source="OMIM:237300"} xref: SCTID:62522004 {source="DOID:9280", source="MONDO:kboom-pr-1.00/0.80/10.23", source="MONDO:equivalentTo"} xref: UMLS:C0751753 {source="Orphanet:147", source="NCBI:mim2gene_medline", source="DOID:9280", source="NCIT:C84612", source="OMIM:237300"} -is_a: MONDO:0004739 {source="MESH:D020165", source="MONDO:Redundant", source="NCIT:C84612", source="linkedlifedata"} ! urea cycle disorder +is_a: MONDO:0004739 {source="MESH:D020165", source="MONDO:Redundant", source="NCIT:C84612", source="linkedlifedata", source="linkedlifedata/inferred"} ! urea cycle disorder is_a: MONDO:0019217 {source="Orphanet:147"} ! inborn disorder of urea cycle metabolism and ammonia detoxification relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2323 {source="mim2gene_medgen"} ! CPS1 property_value: confidence "3.666666666666667" xsd:double @@ -175058,11 +176693,13 @@ name: Leydig cell hypoplasia, type 1 def: "Any Leydig cell hypoplasia in which the cause of the disease is a mutation in the LHCGR gene." [MONDO:patterns/disease_series_by_gene] synonym: "hypergonadotropic hypogonadism, Male, due to Lhcgr defect" RELATED [OMIM:238320] synonym: "Leydig cell agenesis" RELATED [OMIM:238320] +synonym: "Leydig cell hypoplasia caused by mutation in LHCGR" EXACT [MONDO:design_pattern] synonym: "Leydig cell hypoplasia with male pseudohermaphroditism" RELATED [OMIM:238320] synonym: "Leydig cell hypoplasia, complete" RELATED [OMIM:238320] synonym: "Leydig cell hypoplasia, partial" RELATED [OMIM:238320] synonym: "Leydig cell Hypoplasia, type 2" RELATED [OMIM:238320] synonym: "Leydig cell hypoplasia, type I" RELATED [OMIM:238320] +synonym: "LHCGR Leydig cell hypoplasia" EXACT [MONDO:design_pattern] synonym: "luteinizing hormone resistance, female" RELATED [OMIM:238320] xref: OMIM:238320 {source="MONDO:equivalentTo"} xref: Orphanet:755 {source="MONDO:subClassOf", source="OMIM:238320"} @@ -175188,7 +176825,7 @@ xref: UMLS:C0543533 {source="OMIM:238700"} xref: UMLS:C0936256 {source="ORDO:2203/e", source="Orphanet:2203"} xref: UMLS:C1282843 {source="OMIM:238700"} is_a: MONDO:0004736 {source="DOID:9274"} ! inherited amino acid metabolic disorder -is_a: MONDO:0005066 {source="MONDO:Redundant", source="NCIT:C123433", source="Orphanet:2203/inferred", source="linkedlifedata"} ! metabolic disease +is_a: MONDO:0005066 {source="DOID:9274/inferred", source="MONDO:Redundant", source="NCIT:C123433", source="Orphanet:2203/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease is_a: MONDO:0017351 {source="Orphanet:2203", source="linkedlifedata"} ! inborn disorder of lysine and hydroxylysine metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17366 {source="mim2gene_medgen"} ! AASS property_value: confidence "0.3671000000000004" xsd:double @@ -175366,8 +177003,8 @@ xref: Orphanet:417 {source="OMIM:239200", source="MONDO:equivalentTo"} xref: SCTID:715218009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1832615 {source="NCBI:mim2gene_medline", source="NCIT:C131853", source="MEDGEN:kboom-pr98-c99", source="Orphanet:417", source="MONDO:equivalentTo"} xref: UMLS:C1832645 {source="OMIM:239200"} -is_a: MONDO:0001741 {source="MESH:C563375/inferred", source="MONDO:Redundant", source="NCIT:C131853/inferred", source="OMIM:239200", source="linkedlifedata"} ! hyperparathyroidism -is_a: MONDO:0010837 {source="MONDOLEX:0009397", source="NCIT:C131853"} ! primary hyperparathyroidism (disease) +is_a: MONDO:0001741 {source="MESH:C563375/inferred", source="MONDO:Redundant", source="NCIT:C131853/inferred", source="OMIM:239200", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperparathyroidism +is_a: MONDO:0010837 {source="MESH:C563375", source="MONDOLEX:0009397", source="NCIT:C131853"} ! primary hyperparathyroidism (disease) is_a: MONDO:0016166 {source="MONDO:Redundant", source="Orphanet:417"} ! genetic hyperparathyroidism is_a: MONDO:0019705 {source="Orphanet:417"} ! primary bone dysplasia with defective bone mineralization relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1514 {source="mim2gene_medgen"} ! CASR @@ -175382,7 +177019,9 @@ synonym: "HPMRS1" RELATED [MONDO:Lexical, OMIM:239300] synonym: "hyperphosphatasia with mental retardation syndrome 1" EXACT [MONDO:Lexical, OMIM:239300] synonym: "hyperphosphatasia with mental retardation syndrome 1; HPMRS1" RELATED [OMIM:239300] synonym: "hyperphosphatasia with mental retardation syndrome type 1" EXACT [MONDORULE:1, OMIM:239300] +synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGV" EXACT [MONDO:design_pattern] synonym: "Mabry syndrome" RELATED [OMIM:239300] +synonym: "PIGV hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern] xref: OMIM:239300 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="MONDO:subClassOf", source="OMIM:239300"} xref: UMLS:C1855923 {source="NCBI:mim2gene_medline", source="MONDO:subClassOf", source="OMIM:239300"} @@ -175408,10 +177047,12 @@ name: hyperprolinemia type 1 def: "Hyperprolinaemia type I is an inborn error of proline metabolism characterised by elevated levels of proline in the plasma and urine. The prevalence is unknown. The disorder is generally considered to be benign but associations with renal abnormalities, epileptic seizures, and other neurological manifestations, as well as certain forms of schizophrenia have been reported. It is transmitted as an autosomal recessive trait and is caused by mutations in the proline dehydrogenase or proline oxidase gene (PRODH or POX, 22q11.2)." [Orphanet:419] subset: ordo_disease {source="Orphanet:419"} synonym: "HPI" RELATED [OMIM:239500] +synonym: "hyperprolinemia caused by mutation in PRODH" EXACT [MONDO:design_pattern] synonym: "Hyperprolinemia, type 1" RELATED [OMIM:239500] synonym: "hyperprolinemia, type I" RELATED [MONDO:Lexical, OMIM:239500] synonym: "hyperprolinemia, type I; HYRPRO1" RELATED [OMIM:239500] synonym: "HYRPRO1" RELATED [MONDO:Lexical, OMIM:239500] +synonym: "PRODH hyperprolinemia" EXACT [MONDO:design_pattern] synonym: "proline oxidase deficiency" EXACT [Orphanet:419] synonym: "proline oxidase deficiency" RELATED [OMIM:239500] xref: ICD10:E72.5 {source="ORDO:419/ntbt", source="Orphanet:419", source="ORDO:419/inclusion"} @@ -175439,8 +177080,10 @@ subset: gard_rare {source="GARD:0006710"} subset: ordo_disease {source="Orphanet:79101"} synonym: "1 alpha pyrroline-5-carboxylate dehydrogenase deficiency" RELATED [GARD:0006710] synonym: "1-pyrroline-5-carboxylate dehydrogenase deficiency" RELATED [OMIM:239510] +synonym: "ALDH4A1 hyperprolinemia" EXACT [MONDO:design_pattern] synonym: "delta1-pyrroline-5-carboxylate dehydrogenase deficiency" EXACT [Orphanet:79101] synonym: "HPII" RELATED [OMIM:239510] +synonym: "hyperprolinemia caused by mutation in ALDH4A1" EXACT [MONDO:design_pattern] synonym: "Hyperprolinemia, type 2" RELATED [OMIM:239510] synonym: "hyperprolinemia, type II" RELATED [MONDO:Lexical, OMIM:239510] synonym: "hyperprolinemia, type II; HYRPRO2" RELATED [OMIM:239510] @@ -175668,6 +177311,7 @@ name: autoimmune polyendocrine syndrome type 1 def: "Autoimmune polyendocrinopathy type 1, or APECED syndrome, is a genetic disease that manifests in childhood or early adolescence with a combination of chronic mucocutaneous candidiasis, hypoparathyroidism and autoimmune adrenal failure." [Orphanet:3453] subset: gard_rare subset: ordo_disease {source="Orphanet:3453"} +synonym: "AIRE autoimmune polyendocrinopathy" EXACT [MONDO:design_pattern] synonym: "APECED syndrome" EXACT [Orphanet:3453] synonym: "APS 1" RELATED [OMIM:240300] synonym: "APS type 1" EXACT [Orphanet:3453] @@ -175677,6 +177321,7 @@ synonym: "autoimmune hypoparathyroidism-chronic candidiasis-Addison disease synd synonym: "autoimmune polyendocrine syndrome type 1" EXACT [Orphanet:3453] synonym: "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia" RELATED [MONDO:Lexical, OMIM:240300] synonym: "autoimmune polyendocrine syndrome, type I, with or without reversible metaphyseal dysplasia; APS1" RELATED [OMIM:240300] +synonym: "autoimmune polyendocrinopathy caused by mutation in AIRE" EXACT [MONDO:design_pattern] synonym: "autoimmune polyendocrinopathy syndrome type 1" RELATED [GARD:0008466] synonym: "autoimmune polyendocrinopathy syndrome, type I, autosomal dominant" RELATED [OMIM:240300] synonym: "autoimmune polyendocrinopathy type 1" RELATED [Orphanet:3453] @@ -175783,6 +177428,7 @@ def: "Glycogen synthetase deficiency, or glycogen storage disease (GSD) type 0, subset: ordo_disease {source="Orphanet:2089"} synonym: "glycogen storage disease 0, liver" RELATED [MONDO:Lexical, OMIM:240600] synonym: "glycogen storage disease 0, liver; GSD0A" RELATED [OMIM:240600] +synonym: "glycogen storage disease due to glycogen synthase deficiency of liver" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to liver glycogen synthase deficiency" EXACT [Orphanet:2089] synonym: "glycogen storage disease type 0" RELATED [] synonym: "glycogen storage disease type 0, liver" RELATED [GARD:0002513] @@ -175797,6 +177443,7 @@ synonym: "hepatic glycogen synthase deficiency" RELATED [GARD:0002513] synonym: "hypoglycemia with deficiency of glycogen synthetase 1N the liver" RELATED [OMIM:240600] synonym: "hypoglycemia with deficiency of glycogen synthetase in the liver" RELATED [GARD:0002889] synonym: "liver glycogen storage disease 0" RELATED [OMIM:240600] +synonym: "liver glycogen storage disease due to glycogen synthase deficiency" EXACT [MONDO:design_pattern] synonym: "liver glycogen synthase deficiency" RELATED [OMIM:240600] synonym: "liver GSD 0" RELATED [GARD:0002513] xref: GARD:0002513 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -175809,6 +177456,8 @@ xref: SCTID:237964009 {source="MONDO:equivalentTo"} xref: UMLS:C0342748 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} xref: UMLS:C1855861 {source="NCBI:mim2gene_medline", source="OMIM:240600", source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo", source="Orphanet:2089"} is_a: MONDO:0017693 {source="Orphanet:2089"} ! glycogen storage disease due to glycogen synthase deficiency +intersection_of: MONDO:0017693 ! glycogen storage disease due to glycogen synthase deficiency +intersection_of: disease_has_location UBERON:0002107 ! liver relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4707 {source="mim2gene_medgen"} ! GYS2 property_value: confidence "4.866666666666666" xsd:double @@ -175963,7 +177612,7 @@ xref: MESH:C562654 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:241150 {source="MONDO:equivalentTo"} xref: SCTID:81987005 {source="MONDO:kboom-pr-1.00/0.74/5.70", source="MONDO:equivalentTo"} xref: UMLS:C0268444 {source="NCBI:mim2gene_medline", source="OMIM:241150", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MESH:C562654/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C562654/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease [Term] id: MONDO:0009424 @@ -175971,6 +177620,7 @@ name: Bartter disease type 2 def: "Any Bartter syndrome in which the cause of the disease is a mutation in the KCNJ1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BARTS2" EXACT [DOID:0110143] synonym: "Bartter syndrome antenatal type 2" RELATED [GARD:0009658] +synonym: "Bartter syndrome caused by mutation in KCNJ1" EXACT [MONDO:design_pattern] synonym: "Bartter syndrome type 2" EXACT [DOID:0110143] synonym: "Bartter syndrome type 2 antenatal" EXACT [DOID:0110143] synonym: "Bartter syndrome, antenatal, type 2" RELATED [OMIM:241200] @@ -175982,6 +177632,7 @@ synonym: "hypokalemic alkalosis with hypercalciuria 2 antenatal" EXACT [DOID:011 synonym: "hypokalemic alkalosis with hypercalciuria 2, antenatal" RELATED [OMIM:241200] synonym: "hypokalemic alkalosis with hypercalciuria antenatal 2" RELATED [GARD:0009658] synonym: "hypokalemic alkalosis with hypercalciuria, antenatal, 2" RELATED [OMIM:241200] +synonym: "KCNJ1 Bartter syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110143 {source="MONDO:equivalentTo"} xref: GARD:0009658 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICD10:E26.8 {source="DOID:0110143"} @@ -175991,7 +177642,7 @@ xref: Orphanet:112 {source="OMIM:241200", source="MONDO:subClassOf"} xref: Orphanet:93604 {source="OMIM:241200", source="MONDO:directSiblingOf", source="MONDO:subClassOf"} xref: SCTID:700109009 {source="MONDO:kboom-pr-0.75/0.37/0.59", source="MONDO:equivalentTo"} xref: UMLS:C1855849 {source="OMIM:241200", source="NCBI:mim2gene_medline"} -is_a: MONDO:0015231 {source="DOID:0110143", source="MESH:C537651", source="MONDOLEX:0009424", source="OMIM:241200", source="linkedlifedata"} ! Bartter syndrome +is_a: MONDO:0015231 {source="DOID:0110143", source="MESH:C537651", source="MONDOLEX:0009424", source="OMIM:241200", source="linkedlifedata", source="linkedlifedata/inferred"} ! Bartter syndrome intersection_of: MONDO:0015231 ! Bartter syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6255 ! KCNJ1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6255 {source="mim2gene_medgen"} ! KCNJ1 @@ -176033,8 +177684,8 @@ synonym: "hypoparathyroidism, congenital, associated with dysmorphism, growth re synonym: "hypoparathyroidism, congenital, associated with Dysmorphism, Growth retardation, and developmental delay" RELATED [OMIM:241410] synonym: "hypoparathyroidism-intellectual disability-dysmorphism syndrome" EXACT [Orphanet:2323] synonym: "hypoparathyroidism-retardation-dysmorphism syndrome" EXACT [MONDO:Lexical, OMIM:241410] -synonym: "hypoparathyroidism-retardation-DYSMORPHISM syndrome; HRD" RELATED [OMIM:241410] -synonym: "hypoparathyroidism-retardation-DYSMORPHISM syndrome; HRDS" RELATED [OMIM:241410] +synonym: "hypoparathyroidism-retardation-dysmorphism syndrome; HRD" RELATED [OMIM:241410] +synonym: "hypoparathyroidism-retardation-dysmorphism syndrome; HRDS" RELATED [OMIM:241410] synonym: "hypoparathyroidism-short stature-intellectual disability-seizures syndrome" EXACT [Orphanet:2323] synonym: "Richardson-Kirk syndrome" EXACT [Orphanet:2323] synonym: "Sanjad-Sakati syndrome" EXACT [DOID:0060348, OMIM:241410] @@ -176091,7 +177742,9 @@ subset: ordo_clinical_subtype {source="Orphanet:247667"} synonym: "childhood-onset hypophosphatasia" RELATED [GARD:0008735] synonym: "childhood-onset phosphoethanolaminuria" EXACT [Orphanet:247667] synonym: "childhood-onset Rathburn disease" EXACT [Orphanet:247667] +synonym: "hypophosphatasia of childhood" EXACT [MONDO:design_pattern] synonym: "hypophosphatasia, childhood" RELATED [OMIM:241510] +synonym: "pediatric hypophosphatasia" EXACT [MONDO:design_pattern] xref: DOID:0110915 {source="MONDO:equivalentTo"} xref: GARD:0008735 {source="MONDO:equivalentTo"} xref: ICD10:E83.3 {source="ORDO:247667/attributed", source="ORDO:247667/ntbt", source="Orphanet:247667", source="MONDO:relatedTo"} @@ -176124,6 +177777,8 @@ name: hypophosphatemic rickets, autosomal recessive, 1 def: "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the DMP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Arhr" RELATED [OMIM:241520] synonym: "ARHR1" RELATED [MONDO:Lexical, OMIM:241520] +synonym: "autosomal recessive hypophosphatemic rickets caused by mutation in DMP1" EXACT [MONDO:design_pattern] +synonym: "DMP1 autosomal recessive hypophosphatemic rickets" EXACT [MONDO:design_pattern] synonym: "hypophosphatemia, autosomal recessive" RELATED [OMIM:241520] synonym: "hypophosphatemic rickets, autosomal recessive, 1" EXACT [MONDO:Lexical, OMIM:241520] synonym: "hypophosphatemic rickets, autosomal recessive, 1; ARHR1" RELATED [OMIM:241520] @@ -176161,7 +177816,7 @@ xref: UMLS:C0342645 {source="OMIM:241530", source="NCBI:mim2gene_medline"} xref: UMLS:C1853271 {source="Orphanet:157215", source="MEDGEN:kboom-pr98-c99", source="NCIT:C131450", source="MONDO:equivalentTo"} is_a: MONDO:0000044 {source="MONDOLEX:0009431", source="NCIT:C131450", source="Orphanet:157215"} ! hereditary hypophosphatemic rickets is_a: MONDO:0005520 {source="DOID:0050947", source="MESH:C562793/inferred", source="MONDO:Redundant", source="NCIT:C131450/inferred"} ! rickets (disease) -is_a: MONDO:0024300 {source="MONDO:0009431/inferred", source="MONDOLEX:0009431/inferred", source="NCIT:C131450"} ! hypophosphatemic rickets +is_a: MONDO:0024300 {source="MESH:C562793/inferred", source="MONDO:0009431/inferred", source="MONDOLEX:0009431/inferred", source="NCIT:C131450"} ! hypophosphatemic rickets relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20305 {source="mim2gene_medgen"} ! SLC34A3 relationship: disease_has_feature HP:0002150 ! Hypercalciuria property_value: confidence "3.0625" xsd:double @@ -176179,10 +177834,12 @@ is_a: MONDO:0003847 ! inherited genetic disease id: MONDO:0009433 name: hypoplastic left heart syndrome 1 def: "Any hypoplastic left heart syndrome in which the cause of the disease is a mutation in the GJA1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GJA1 hypoplastic left heart syndrome" EXACT [MONDO:design_pattern] synonym: "HLHS" BROAD [OMIM:241550] synonym: "HLHS1" RELATED [MONDO:Lexical, OMIM:241550] synonym: "hypoplastic left heart syndrome 1" EXACT [MONDO:Lexical, OMIM:241550] synonym: "hypoplastic left heart syndrome 1; HLHS1" RELATED [OMIM:241550] +synonym: "hypoplastic left heart syndrome caused by mutation in GJA1" EXACT [MONDO:design_pattern] synonym: "hypoplastic left heart syndrome type 1" EXACT [MONDORULE:1, OMIM:241550] xref: OMIM:241550 {source="Orphanet:2248", source="MONDO:equivalentTo"} xref: OMIM:614435 {source="MONDO:directSiblingOf", source="Orphanet:2248", source="MONDO:superClassOf"} @@ -176398,7 +178055,7 @@ xref: OMIM:242400 {source="GARD:0002948", source="MONDO:equivalentTo"} xref: Orphanet:2270 {source="GARD:0002948"} xref: SCTID:235916001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0400974 {source="OMIM:242400", source="NCBI:mim2gene_medline", source="GARD:0002948"} -is_a: MONDO:0003847 {source="MESH:C562886/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C562886/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2948/ichthyosis-congenita-biliary-atresia xsd:anyURI {source="GARD:0002948"} [Term] @@ -176641,12 +178298,14 @@ id: MONDO:0009454 name: immunodeficiency-centromeric instability-facial anomalies syndrome 1 def: "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the DNMT3B gene." [MONDO:patterns/disease_series_by_gene] synonym: "centromeric instability, immunodeficiency syndrome" RELATED [OMIM:242860] +synonym: "DNMT3B immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern] synonym: "ICF syndrome 1" EXACT [DOID:0090008] synonym: "ICF1" RELATED [MONDO:Lexical, OMIM:242860] synonym: "immune deficiency, variable, with centromeric instability of chromosomes 1, 9, and 16" RELATED [OMIM:242860] synonym: "immunodeficiency syndrome, variable" RELATED [OMIM:242860] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 1" EXACT [MONDO:Lexical, OMIM:242860] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 1; ICF1" RELATED [OMIM:242860] +synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in DNMT3B" EXACT [MONDO:design_pattern] synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 1" EXACT [MONDORULE:1, OMIM:242860] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 1" EXACT [DOID:0090008, MONDORULE:1] xref: DOID:0090008 {source="MONDO:equivalentTo"} @@ -176931,7 +178590,9 @@ name: benign recurrent intrahepatic cholestasis type 1 def: "Benign recurrent intrahepatic cholestasis 1 (BRIC1) is characterized by episodes of liver dysfunction called cholestasis, during which the liver cells have a reduced ability to release a digestive fluid called bile. These episodes can last from weeks to months, and the time between them, during which there are usually no symptoms, can vary from weeks to years.Most people with BRIC1have their first episode of cholestasisintheir teens or twenties. Symptoms oftenpresent with severe itchiness, followed by yellowing of the skin and whites of the eyes (jaundice) a few weeks later. BRIC1 is caused by mutations in the ATP8B1 gene. This condition is inherited in an autosomal recessive pattern.BRIC1generally does not cause lasting damage to the liver. However, in rare cases, episodes of liver dysfunction may develop into a more severe, permanent form of liver disease known as progressive familial intrahepatic cholestasis (PFIC). BRIC and PFIC are sometimes considered to be part of a spectrum of intrahepatic cholestasis disorders of varying severity." [GARD:0010028] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:99960"} +synonym: "ATP8B1 benign recurrent intrahepatic cholestasis" EXACT [MONDO:design_pattern] synonym: "benign recurrent intrahepatic cholestasis 1" RELATED [GARD:0010028] +synonym: "benign recurrent intrahepatic cholestasis caused by mutation in ATP8B1" EXACT [MONDO:design_pattern] synonym: "Bric type 1" EXACT [Orphanet:99960] synonym: "BRIC1" EXACT [GARD:0010028, MONDO:Lexical, OMIM:243300, Orphanet:99960] synonym: "cholestasis, benign recurrent intrahepatic 1" RELATED [GARD:0010028] @@ -176962,6 +178623,8 @@ id: MONDO:0009470 name: Baraitser-Winter syndrome 1 def: "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTB gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +synonym: "ACTB Baraitser-Winter cerebrofrontofacial syndrome" EXACT [MONDO:design_pattern] +synonym: "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTB" EXACT [MONDO:design_pattern] synonym: "Baraitser-Winter syndrome 1" EXACT [MONDO:Lexical, OMIM:243310] synonym: "Baraitser-WINTER syndrome 1; BRWS1" RELATED [OMIM:243310] synonym: "Baraitser-Winter syndrome type 1" EXACT [MONDORULE:1, OMIM:243310] @@ -177075,7 +178738,7 @@ xref: OMIM:243500 {source="Orphanet:33", source="DOID:14753", source="MONDO:equi xref: Orphanet:33 {source="OMIM:243500", source="MONDO:equivalentTo"} xref: SCTID:87827003 {source="MONDO:kboom-pr-1.00/0.81/11.67", source="DOID:14753", source="MONDO:equivalentTo"} xref: UMLS:C0268575 {source="NCBI:mim2gene_medline", source="OMIM:243500", source="NCIT:C98964", source="Orphanet:33", source="DOID:14753", source="MONDO:equivalentTo", source="ORDO:33/e"} -is_a: MONDO:0000688 {source="MONDO:Redundant", source="NCIT:C98964", source="Orphanet:33/inferred", source="linkedlifedata"} ! inherited organic acidemia +is_a: MONDO:0000688 {source="DOID:14753", source="MONDO:Redundant", source="NCIT:C98964", source="Orphanet:33/inferred", source="linkedlifedata"} ! inherited organic acidemia is_a: MONDO:0019215 {source="Orphanet:33"} ! classic organic aciduria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6186 {source="mim2gene_medgen"} ! IVD property_value: confidence "4.277777777777779" xsd:double @@ -177220,7 +178883,7 @@ is_a: MONDO:0015246 {source="Orphanet:2315"} ! syndromic anorectal malformation is_a: MONDO:0015329 {source="Orphanet:2315"} ! malformation syndrome with short stature is_a: MONDO:0015778 {source="Orphanet:2315"} ! syndromic hypothyroidism is_a: MONDO:0015983 {source="Orphanet:2315"} ! rare genetic syndromic intellectual disability -is_a: MONDO:0019287 {source="MESH:C535880", source="Orphanet:2315", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MESH:C535880", source="Orphanet:2315", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0019827 {source="Orphanet:2315"} ! disease associated with non-acquired combined pituitary hormone deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16808 {source="mim2gene_medgen"} ! UBR1 property_value: confidence "0.5" xsd:double @@ -177292,8 +178955,10 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m synonym: "HH3" RELATED [MONDO:Lexical, OMIM:244200] synonym: "hypogonadotropic hypogonadism 3 with or without anosmia" EXACT [MONDO:Lexical, OMIM:244200] synonym: "hypogonadotropic hypogonadism 3 with or without anosmia; HH3" RELATED [OMIM:244200] +synonym: "hypogonadotropic hypogonadism caused by mutation in PROKR2" EXACT [MONDO:design_pattern] synonym: "KAL3" RELATED [GARD:0003073] synonym: "Kallmann syndrome 3" RELATED [GARD:0003073] +synonym: "PROKR2 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] xref: DOID:0090092 {source="MONDO:equivalentTo"} xref: GARD:0003073 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090092", source="MONDO:relatedTo"} @@ -177301,7 +178966,7 @@ xref: OMIM:244200 {source="DOID:0090092", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:244200"} xref: UMLS:C2930927 {source="NCBI:mim2gene_medline"} xref: UMLS:C3550478 {source="MONDO:equivalentTo", source="OMIM:244200"} -is_a: MONDO:0018555 {source="MONDO:0009482/inferred", source="MONDO:Redundant", source="MONDOLEX:0009482/inferred", source="OMIM:244200"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090092", source="MONDO:0009482/inferred", source="MONDO:Redundant", source="MONDOLEX:0009482/inferred", source="OMIM:244200"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="MONDOLEX:0009482", source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15836 ! PROKR2 @@ -177343,11 +179008,13 @@ synonym: "ciliary dyskinesia, primary, 1, with or without situs inversus" RELATE synonym: "ciliary dyskinesia, primary, 1; CILD1" RELATED [OMIM:244400] synonym: "ciliary dyskinesia, primary, type 1" EXACT [MONDORULE:1, OMIM:244400] synonym: "dextrocardia, bronchiectasis, and sinusitis" RELATED [OMIM:244400] +synonym: "DNAI1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "immotile cilia syndrome" RELATED [OMIM:244400] synonym: "Kartagener syndrome" RELATED [OMIM:244400] synonym: "PCD" RELATED [OMIM:244400] synonym: "Polynesian bronchiectasis" RELATED [OMIM:244400] synonym: "primary ciliary dyskinesia 1 with or without situs inversus" EXACT [DOID:0110594] +synonym: "primary ciliary dyskinesia caused by mutation in DNAI1" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 1" EXACT [DOID:0110594, MONDORULE:1] synonym: "Siewert syndrome" RELATED [OMIM:244400] xref: DOID:0110594 {source="MONDO:equivalentTo"} @@ -177800,8 +179467,10 @@ synonym: "lactic acidosis, fatal infantile" RELATED [OMIM:245400] synonym: "lactic acidosis, fatal infantile, formerly" RELATED [OMIM:245400] synonym: "mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria)" RELATED [MONDO:Lexical, OMIM:245400] synonym: "mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria); MTDPS9" RELATED [OMIM:245400] +synonym: "mitochondrial DNA depletion syndrome caused by mutation in SUCLG1" EXACT [MONDO:design_pattern] synonym: "mitochondrial DNA depletion syndrome type 9" EXACT [DOID:0080128, MONDORULE:1] synonym: "MTDPS9" RELATED [MONDO:Lexical, OMIM:245400] +synonym: "SUCLG1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern] xref: DOID:0080128 {source="MONDO:equivalentTo"} xref: GARD:0003163 {source="MONDO:equivalentTo"} xref: ICD10:E71.1 {source="ORDO:17/ntbt", source="Orphanet:17", source="ORDO:17/attributed"} @@ -177851,7 +179520,7 @@ xref: Orphanet:169142 {source="OMIM:245480", source="MONDO:equivalentTo"} xref: SCTID:234587000 {source="MONDO:kboom-pr-0.72/0.42/0.06", source="MONDO:equivalentTo"} xref: UMLS:C0398593 {source="NCBI:mim2gene_medline", source="OMIM:245480", source="MONDO:equivalentTo"} is_a: MONDO:0015978 {source="Orphanet:169142"} ! functional neutrophil defect -is_a: MONDO:0024626 {source="linkedlife"} ! defective phagocytic cell engulfment +is_a: MONDO:0024626 {source="linkedlifedata"} ! defective phagocytic cell engulfment property_value: confidence "2.692307692307692" xsd:double [Term] @@ -177962,8 +179631,8 @@ synonym: "JDSCD" RELATED [OMIM:245600] synonym: "Larsen syndrome, autosomal recessive" RELATED [OMIM:245600] synonym: "Larsen syndrome, autosomal recessive, formerly" RELATED [OMIM:245600] synonym: "multiple Joint dislocations, short stature, and craniofacial Dysmorphism with or without congenital heart defects" RELATED [OMIM:245600] -synonym: "multiple JOINT dislocations, short stature, and craniofacial DYSMORPHISM with OR without congenital heart defects; JDSCD" RELATED [OMIM:245600] -synonym: "multiple JOINT dislocations, short stature, craniofacial DYSMORPHISM, and congenital heart defects" RELATED [OMIM:245600] +synonym: "multiple JOINT dislocations, short stature, and craniofacial dysmorphism with OR without congenital heart defects; JDSCD" RELATED [OMIM:245600] +synonym: "multiple JOINT dislocations, short stature, craniofacial dysmorphism, and congenital heart defects" RELATED [OMIM:245600] synonym: "multiple joint dislocations-short stature-craniofacial dysmorphism-congenital heart defects syndrome" EXACT [Orphanet:284139] xref: ICD10:Q74.8 {source="Orphanet:284139", source="ORDO:284139/ntbt", source="ORDO:284139/attributed"} xref: MESH:C537874 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -178023,7 +179692,7 @@ is_a: MONDO:0015222 {source="Orphanet:2407"} ! syndromic respiratory or mediasti is_a: MONDO:0015510 {source="MONDO:Entailed", source="Orphanet:2407", source="Orphanet:2407/inferred"} ! rare genetic respiratory disease is_a: MONDO:0015930 {source="Orphanet:2407"} ! respiratory malformation is_a: MONDO:0016997 {source="Orphanet:2407"} ! hereditary epidermolysis bullosa associated with ocular features -is_a: MONDO:0017612 {source="Orphanet:2407"} ! junctional epidermolysis bullosa +is_a: MONDO:0017612 {source="Orphanet:2407", source="linkedlifedata"} ! junctional epidermolysis bullosa is_a: MONDO:0020023 {source="MONDO:Redundant", source="Orphanet:2407/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! respiratory or mediastinal malformation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6483 {source="mim2gene_medgen"} ! LAMA3 relationship: excluded_subClassOf MONDO:0015221 {source="Orphanet:2407"} ! non-syndromic respiratory or mediastinal malformation @@ -178053,7 +179722,7 @@ xref: SCTID:232060005 {source="DOID:1930"} xref: SCTID:5619004 {source="DOID:1930", source="MONDO:directSiblingOf"} xref: UMLS:C0023138 {source="OMIM:245800", source="NCBI:mim2gene_medline", source="DOID:1930", source="NCIT:C34760", source="ORDO:2377/e", source="Orphanet:2377", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34760"} ! syndromic disease -is_a: MONDO:0003847 {source="MONDO:Redundant", source="NCIT:C34760", source="Orphanet:2377/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="DOID:1930/inferred", source="MONDO:Redundant", source="NCIT:C34760", source="Orphanet:2377/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0006025 {source="DOID:1930", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0015159 {source="Orphanet:2377"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:2377"} ! rare syndromic intellectual disability @@ -178092,7 +179761,7 @@ xref: UMLS:C0023195 {source="NCBI:mim2gene_medline", source="OMIM:245900", sourc is_a: MONDO:0001822 {source="DOID:1391"} ! hypolipoproteinemia (disease) is_a: MONDO:0015910 {source="Orphanet:79293"} ! rare constitutional hemolytic anemia is_a: MONDO:0018999 {source="Orphanet:79293"} ! LCAT deficiency -is_a: MONDO:0019052 {source="MONDO:Redundant", source="NCIT:C84813", source="Orphanet:79293/inferred"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:1391/inferred", source="MONDO:Redundant", source="NCIT:C84813", source="Orphanet:79293/inferred"} ! inborn errors of metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6522 {source="mim2gene_medgen"} ! LCAT property_value: confidence "5.250000000000002" xsd:double @@ -178147,11 +179816,13 @@ property_value: confidence "5.666666666666667" xsd:double id: MONDO:0009518 name: leprosy, susceptibility to, 3 def: "Any leprosy in which the cause of the disease is a mutation in the TLR2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "leprosy caused by mutation in TLR2" EXACT [MONDO:design_pattern] synonym: "leprosy, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:246300] synonym: "leprosy, susceptibility to, 3; LPRS3" RELATED [OMIM:246300] synonym: "leprosy, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:246300] synonym: "LPRS3" RELATED [MONDO:Lexical, OMIM:246300] synonym: "susceptibility to leprosy 3" RELATED [OMIM:246300] +synonym: "TLR2 leprosy" EXACT [MONDO:design_pattern] xref: OMIM:246300 {source="MONDO:equivalentTo"} xref: Orphanet:548 {source="MONDO:subClassOf", source="OMIM:246300"} xref: UMLS:C1968668 {source="NCBI:mim2gene_medline", source="OMIM:246300"} @@ -178239,7 +179910,7 @@ xref: Orphanet:1816 {source="OMIM:246500", source="MONDO:equivalentTo"} xref: SCTID:239032007 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0406729 {source="MEDGEN:kboom-pr95-c96", source="MONDO:equivalentTo"} xref: UMLS:C1855504 {source="NCBI:mim2gene_medline", source="Orphanet:1816", source="OMIM:246500", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} -is_a: MONDO:0019287 {source="MONDOLEX:0009522", source="Orphanet:1816", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MONDOLEX:0009522", source="Orphanet:1816", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome property_value: confidence "8.6" xsd:double [Term] @@ -178485,11 +180156,11 @@ xref: Orphanet:531 {source="OMIM:247200", source="DOID:0060469", source="MONDO:e xref: SCTID:253148005 {source="MONDO:kboom-pr-1.00/0.80/9.20", source="MONDO:equivalentTo"} xref: UMLS:C0265219 {source="Orphanet:531", source="NCBI:mim2gene_medline", source="NCIT:C124852", source="ORDO:531/e", source="OMIM:247200", source="DOID:0060469", source="MONDO:equivalentTo"} xref: UMLS:C1855481 {source="OMIM:247200"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124852"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060469", source="MONDO:Redundant", source="NCIT:C124852"} ! syndromic disease is_a: MONDO:0015146 {source="Orphanet:531"} ! classic lissencephaly is_a: MONDO:0015652 {source="Orphanet:531", source="http://orcid.org/0000-0001-8486-0558"} ! chromosomal anomaly with epilepsy as a major feature is_a: MONDO:0016895 {source="Orphanet:531"} ! partial monosomy of the short arm of chromosome 17 -is_a: MONDO:0018838 {source="MONDO:Redundant", source="NCIT:C124852", source="OMIM:247200", source="Orphanet:531/inferred", source="linkedlifedata"} ! lissencephaly (disease) +is_a: MONDO:0018838 {source="MONDO:Redundant", source="NCIT:C124852", source="OMIM:247200", source="Orphanet:531/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lissencephaly (disease) property_value: confidence "23.000000000000085" xsd:double [Term] @@ -178663,7 +180334,7 @@ xref: Orphanet:2477 {source="MONDO:subClassOf", source="OMIM:248000"} xref: UMLS:C2243051 {source="NCBI:mim2gene_medline"} xref: UMLS:C2931497 {source="GARD:0000148"} xref: UMLS:C3806412 {source="OMIM:248000", source="MONDO:equivalentTo"} -is_a: MONDO:0016608 {source="ORDO:2477/btnt"} ! megalencephaly (disease) +is_a: MONDO:0016608 {source="MESH:C537453", source="ORDO:2477/btnt"} ! megalencephaly (disease) is_a: MONDO:0019117 {source="OWLReasoner:2017"} ! genetic nervous system disorder property_value: confidence "39.000000000000085" xsd:double @@ -178744,7 +180415,7 @@ xref: UMLS:C1855466 {source="NCBI:mim2gene_medline", source="OMIM:248190", sourc xref: UMLS:C2931121 {source="ORDO:2196/e", source="GARD:0003451", source="Orphanet:2196", source="DOID:0060881"} is_a: MONDO:0010645 {source="MESH:C536148"} ! oculocerebrorenal syndrome is_a: MONDO:0017624 {source="MONDOLEX:0009548", source="Orphanet:2196"} ! familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis -is_a: MONDO:0018100 {source="MONDO:Redundant", source="OMIM:248190", source="Orphanet:2196/inferred"} ! primary hypomagnesemia +is_a: MONDO:0018100 {source="DOID:0060881", source="MONDO:Redundant", source="OMIM:248190", source="Orphanet:2196/inferred"} ! primary hypomagnesemia is_a: MONDO:0020243 {source="Orphanet:2196"} ! colobomatous and areolar dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2040 {source="mim2gene_medgen"} ! CLDN19 property_value: confidence "22.333333333333336" xsd:double @@ -178785,6 +180456,7 @@ id: MONDO:0009550 name: renal hypomagnesemia 3 def: "Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH; see this term), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure." [Orphanet:31043] subset: ordo_disease {source="Orphanet:31043"} +synonym: "CLDN16 primary hypomagnesemia" EXACT [MONDO:design_pattern] synonym: "familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement" EXACT [DOID:0060880] synonym: "FHHNC without severe ocular involvement" EXACT [DOID:0060880, Orphanet:31043] synonym: "HOMG3" EXACT [DOID:0060880, MESH:C537153, MONDO:Lexical, OMIM:248250, Orphanet:31043] @@ -178798,6 +180470,7 @@ synonym: "hypomagnesemia, primary, due to defect 1N renal tubular Transport of m synonym: "hypomagnesemia, primary, due to defect In renal tubular Transport Of magnesium" RELATED [MESH:C537153] synonym: "isolated renal hypomagnesemia" EXACT [DOID:0060880] synonym: "magnesium, defect in renal tubular transport of" RELATED [MESH:C537153] +synonym: "primary hypomagnesemia caused by mutation in CLDN16" EXACT [MONDO:design_pattern] synonym: "primary hypomagnesemia due to defect in renal tubular transport of magnesium" EXACT [DOID:0060880] synonym: "renal hypomagnesemia type 3" EXACT [DOID:0060880, MONDORULE:1, Orphanet:31043] xref: DOID:0060880 {source="MONDO:equivalentTo"} @@ -178810,7 +180483,7 @@ xref: UMLS:C3151482 {source="OMIM:248250"} is_a: MONDO:0001567 {source="MESH:C537153", source="MONDOLEX:0009550"} ! nephrocalcinosis is_a: MONDO:0006510 {source="MESH:C537153"} ! renal tubular transport disease is_a: MONDO:0017624 {source="MONDOLEX:0009550", source="Orphanet:31043"} ! familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis -is_a: MONDO:0018100 {source="MONDO:Redundant", source="OMIM:248250", source="Orphanet:31043/inferred"} ! primary hypomagnesemia +is_a: MONDO:0018100 {source="DOID:0060880", source="MONDO:Redundant", source="OMIM:248250", source="Orphanet:31043/inferred"} ! primary hypomagnesemia intersection_of: MONDO:0018100 ! primary hypomagnesemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2037 ! CLDN16 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2037 {source="mim2gene_medgen"} ! CLDN16 @@ -178866,9 +180539,11 @@ name: 3MC syndrome 3 def: "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC10 gene." [MONDO:patterns/disease_series_by_gene] synonym: "3MC syndrome 3" EXACT [MONDO:Lexical, OMIM:248340] synonym: "3MC syndrome 3; 3MC3" RELATED [OMIM:248340] +synonym: "3MC syndrome caused by mutation in COLEC10" EXACT [MONDO:design_pattern] synonym: "3MC syndrome type 3" EXACT [DOID:0060577, MONDORULE:1] synonym: "3Mc syndrome type 3" EXACT [MONDORULE:1, OMIM:248340] synonym: "3MC3" RELATED [MONDO:Lexical, OMIM:248340] +synonym: "COLEC10 3MC syndrome" EXACT [MONDO:design_pattern] synonym: "Facial clefting syndrome, Gypsy type" RELATED [OMIM:248340] synonym: "Malpuech Facial clefting syndrome" RELATED [OMIM:248340] synonym: "Malpuech Facial clefting syndrome, formerly" RELATED [OMIM:248340] @@ -178946,10 +180621,12 @@ name: Treacher Collins syndrome 3 def: "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1C gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0009125"} synonym: "mandibulofacial dysostosis, Treacher Collins type, autosomal recessive" RELATED [OMIM:248390] +synonym: "POLR1C Treacher-Collins syndrome" EXACT [MONDO:design_pattern] synonym: "TCS3" RELATED [MONDO:Lexical, OMIM:248390] synonym: "Treacher Collins syndrome 3" EXACT [MONDO:Lexical, OMIM:248390] synonym: "TREACHER COLLINS syndrome 3; TCS3" RELATED [OMIM:248390] synonym: "Treacher Collins syndrome type 3" EXACT [MONDORULE:1, OMIM:248390] +synonym: "Treacher-Collins syndrome caused by mutation in POLR1C" EXACT [MONDO:design_pattern] xref: GARD:0009125 {source="MONDO:equivalentTo"} xref: MESH:C535707 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:248390 {source="MONDO:equivalentTo"} @@ -179129,8 +180806,8 @@ xref: UMLS:C1855369 {source="OMIM:248600"} xref: UMLS:C1855371 {source="OMIM:248600"} xref: UMLS:C2930990 {source="OMIM:248600"} is_a: MONDO:0000688 {source="DOID:9269", source="linkedlifedata"} ! inherited organic acidemia -is_a: MONDO:0003847 {source="MESH:D008375/inferred", source="MONDO:Redundant", source="NCIT:C34806", source="Orphanet:511/inferred", source="linkedlifedata"} ! inherited genetic disease -is_a: MONDO:0019242 {source="Orphanet:511"} ! inborn disorder of branched-chain amino acid metabolism +is_a: MONDO:0003847 {source="MESH:D008375/inferred", source="MONDO:Redundant", source="NCIT:C34806", source="Orphanet:511/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease +is_a: MONDO:0019242 {source="Orphanet:511", source="linkedlifedata"} ! inborn disorder of branched-chain amino acid metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2698 {source="mim2gene_medgen"} ! DBT relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/986 {source="mim2gene_medgen"} ! BCKDHA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/987 {source="mim2gene_medgen"} ! BCKDHB @@ -179256,7 +180933,7 @@ xref: OMIM:248900 {source="ORDO:101001/e", source="Orphanet:101001", source="DOI xref: Orphanet:101001 {source="OMIM:248900", source="DOID:0060245", source="MONDO:equivalentTo"} xref: UMLS:C1855346 {source="OMIM:248900", source="NCBI:mim2gene_medline", source="Orphanet:101001", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0017915 {source="Orphanet:101001"} ! pure or complex autosomal recessive spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:248900", source="Orphanet:101001/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0060245", source="MESH:C565409", source="MONDO:Redundant", source="OMIM:248900", source="Orphanet:101001/inferred"} ! hereditary spastic paraplegia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20373 {source="mim2gene_medgen"} ! SPG21 property_value: confidence "30.481481481481485" xsd:double @@ -179316,6 +180993,7 @@ synonym: "Gruber syndrome" RELATED [MESH:C536133, OMIM:249000] synonym: "Meckel Gruber syndrome" RELATED [MESH:C536133] synonym: "Meckel syndrome" RELATED [MESH:C536133, OMIM:249000] synonym: "Meckel syndrome 1" RELATED [DOID:0070115] +synonym: "Meckel syndrome caused by mutation in MKS1" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome type1" RELATED [MESH:C536133] synonym: "Meckel syndrome, type 1" EXACT [MESH:C536133, MONDO:Lexical, OMIM:249000] synonym: "MECKEL syndrome, type 1; MKS1" RELATED [OMIM:249000] @@ -179325,6 +181003,7 @@ synonym: "Meckel-Gruber syndrome, type 1" RELATED [MESH:C536133, OMIM:249000] synonym: "Mes" RELATED [MESH:C536133, OMIM:249000] synonym: "MKS" RELATED [MESH:C536133] synonym: "MKS1" EXACT [DOID:0070115, MESH:C536133, MONDO:Lexical, OMIM:249000] +synonym: "MKS1 Meckel syndrome" EXACT [MONDO:design_pattern] xref: DOID:0070115 {source="MONDO:equivalentTo"} xref: ICD10:Q61.9 {source="DOID:0070115"} xref: MESH:C536133 {source="MONDO:equivalentTo"} @@ -179442,7 +181121,7 @@ xref: SCTID:268158009 {source="DOID:0060305", source="MONDO:kboom-pr-1.00/0.85/1 xref: SCTID:388840007 {source="DOID:0060305"} xref: SCTID:39978004 {source="DOID:0060305"} xref: UMLS:C0344530 {source="DOID:0060305", source="NCBI:mim2gene_medline", source="OMIM:249300"} -is_a: MONDO:0000942 {source="DOID:0060305", source="linkedlife/inferred"} ! corneal disease +is_a: MONDO:0000942 {source="DOID:0060305", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease is_a: MONDO:0003847 {source="MESH:C562829/inferred", source="linkedlifedata"} ! inherited genetic disease [Term] @@ -179493,7 +181172,7 @@ xref: Orphanet:2481 {source="MONDO:equivalentTo", source="OMIM:249400"} xref: UMLS:C0544862 {source="NCBI:mim2gene_medline", source="Orphanet:2481", source="ORDO:2481/e", source="OMIM:249400"} is_a: MONDO:0016756 {source="Orphanet:2481"} ! inherited nervous system cancer-predisposing syndrome is_a: MONDO:0017414 {source="Orphanet:2481"} ! rare nevus -is_a: MONDO:0042983 {source="MONDO:cjm"} ! neurocutaneous syndrome +is_a: MONDO:0042983 {source="MESH:C537387", source="MONDO:cjm"} ! neurocutaneous syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7989 {source="mim2gene_medgen"} ! NRAS property_value: confidence "3.7222222222222223" xsd:double @@ -179530,10 +181209,12 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5138/frank-te id: MONDO:0009580 name: intellectual disability, autosomal recessive 1 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PRSS12 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in PRSS12" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:249500] synonym: "mental retardation, autosomal recessive 1; MRT1" RELATED [OMIM:249500] synonym: "mental retardation, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:249500] synonym: "MRT1" RELATED [MONDO:Lexical, OMIM:249500] +synonym: "PRSS12 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] xref: MESH:C565406 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:249500 {source="MONDO:equivalentTo"} xref: UMLS:C1855304 {source="NCBI:mim2gene_medline", source="OMIM:249500", source="MONDO:equivalentTo"} @@ -180040,10 +181721,12 @@ property_value: confidence "0.11111111111111449" xsd:double id: MONDO:0009605 name: methemoglobinemia type 4 def: "Any methemoglobinemia in which the cause of the disease is a mutation in the CYB5A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CYB5A methemoglobinemia" EXACT [MONDO:design_pattern] synonym: "isolated 17,20-lyase deficiency, Pure" RELATED [OMIM:250790] synonym: "METAG" RELATED [OMIM:250790] synonym: "methemoglobinemia and ambiguous genitalia" RELATED [OMIM:250790] synonym: "methemoglobinemia and ambiguous genitalia; METAG" RELATED [OMIM:250790] +synonym: "methemoglobinemia caused by mutation in CYB5A" EXACT [MONDO:design_pattern] synonym: "methemoglobinemia due to deficiency of cytochrome B5" RELATED [OMIM:250790] synonym: "methemoglobinemia due to deficiency of cytochrome B5, formerly" RELATED [OMIM:250790] synonym: "methemoglobinemia type IV" RELATED [OMIM:250790] @@ -180101,7 +181784,6 @@ synonym: "MAT I/III deficiency" EXACT [Orphanet:168598] synonym: "Mat I/III deficiency" RELATED [OMIM:250850] synonym: "methionine adenosyltransferase deficiency" EXACT [OMIM:250850, Orphanet:168598] synonym: "methionine adenosyltransferase I/III deficiency" RELATED [OMIM:250850] -synonym: "methionine adenosyltransferase I/Iii deficiency" RELATED [OMIM:250850] xref: GARD:0008397 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:E72.1 {source="Orphanet:168598", source="ORDO:168598/ntbt", source="ORDO:168598/attributed"} xref: NCIT:C123435 {source="MONDO:kboom-pr-0.95/0.83/1.34", source="MONDO:equivalentTo"} @@ -180154,7 +181836,7 @@ xref: Orphanet:2170 {source="OMIM:250940", source="MONDO:equivalentTo"} xref: Orphanet:622 {source="OMIM:250940", source="MONDO:subClassOf"} xref: SCTID:721187005 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1855128 {source="NCBI:mim2gene_medline", source="Orphanet:2170", source="OMIM:250940"} -is_a: MONDO:0018964 {source="MONDOLEX:0009609", source="Orphanet:2170"} ! homocystinuria without methylmalonic aciduria +is_a: MONDO:0018964 {source="MONDOLEX:0009609", source="Orphanet:2170", source="linkedlifedata"} ! homocystinuria without methylmalonic aciduria is_a: MONDO:0019737 {source="Orphanet:2170"} ! thrombotic microangiopathy is_a: MONDO:0020030 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="Orphanet:2170/inferred"} ! rare genetic renal disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7468 {source="mim2gene_medgen"} ! MTR @@ -180169,6 +181851,7 @@ subset: ordo_disease {source="Orphanet:67046"} synonym: "3 alpha methylglutaconic aciduria type I" RELATED [GARD:0010321] synonym: "3 methylglutaconic aciduria type 1" RELATED [GARD:0010321] synonym: "3 methylglutaconyl CoA hydratase deficiency" RELATED [GARD:0010321] +synonym: "3-methylglutaconic aciduria caused by mutation in AUH" EXACT [MONDO:design_pattern] synonym: "3-methylglutaconic aciduria type I" EXACT [DOID:0110002] synonym: "3-Methylglutaconic aciduria, type 1" RELATED [OMIM:250950] synonym: "3-METHYLGLUTACONIC aciduria, type I" RELATED [MONDO:Lexical, OMIM:250950] @@ -180180,6 +181863,7 @@ synonym: "3-Mg-Coa-hydratase deficiency" RELATED [OMIM:250950] synonym: "3-MGCA type I (3-MGCA-1)" RELATED [GARD:0010321] synonym: "3MG CoA hydratase deficiency" RELATED [GARD:0010321] synonym: "3MG-CoA hydratase deficiency" EXACT [DOID:0110002, Orphanet:67046] +synonym: "AUH 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern] synonym: "MGA type I" EXACT [DOID:0110002] synonym: "Mga, type 1" RELATED [OMIM:250950] synonym: "MGA1" EXACT [DOID:0110002, Orphanet:67046] @@ -180302,7 +181986,7 @@ xref: SCTID:82245003 {source="MONDO:equivalentTo"} xref: UMLS:C0342721 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} xref: UMLS:C0342722 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} xref: UMLS:C1855109 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo", source="OMIM:251100"} -is_a: MONDO:0017214 {source="Orphanet:79310", source="linkedlife"} ! vitamin B12-responsive methylmalonic acidemia +is_a: MONDO:0017214 {source="Orphanet:79310", source="linkedlifedata"} ! vitamin B12-responsive methylmalonic acidemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18871 {source="mim2gene_medgen"} ! MMAA property_value: confidence "1.9999999999999996" xsd:double @@ -180342,8 +182026,8 @@ synonym: "MCEE deficiency" EXACT [Orphanet:308425] synonym: "methylmalonic acidemia due to methylmalonyl-CoA racemase deficiency" EXACT [Orphanet:308425] synonym: "methylmalonic aciduria due to methylmalonyl-CoA epimerase deficiency" EXACT [Orphanet:308425] synonym: "methylmalonic aciduria due to methylmalonyl-CoA racemase deficiency" EXACT [Orphanet:308425] -synonym: "methylmalonic aciduria Iii" RELATED [OMIM:251120] -synonym: "methylmalonic aciduria Iii, formerly" RELATED [OMIM:251120] +synonym: "methylmalonic aciduria III" RELATED [OMIM:251120] +synonym: "methylmalonic aciduria III, formerly" RELATED [OMIM:251120] synonym: "methylmalonyl-CoA epimerase deficiency" RELATED [OMIM:251120] synonym: "methylmalonyl-Coa epimerase deficiency with sepiapterin reductase deficiency" RELATED [OMIM:251120] synonym: "methylmalonyl-Coa racemase deficiency" RELATED [OMIM:251120] @@ -180381,7 +182065,9 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3602/microcep id: MONDO:0009617 name: microcephaly 1, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the MCPH1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive primary microcephaly caused by mutation in MCPH1" EXACT [MONDO:design_pattern] synonym: "MCPH1" RELATED [MONDO:Lexical, OMIM:251200] +synonym: "MCPH1 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern] synonym: "microcephaly 1, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:251200] synonym: "microcephaly 1, primary, autosomal recessive; MCPH1" RELATED [OMIM:251200] synonym: "PCC syndrome" RELATED [OMIM:251200] @@ -180563,11 +182249,13 @@ subset: ordo_malformation_syndrome {source="Orphanet:2518"} synonym: "autosomal recessive chorioretinopathy-microcephaly syndrome" RELATED [Orphanet:2518] synonym: "autosomal recessive chorioretinopathy-microcephaly-intellectual disability syndrome" EXACT [Orphanet:2518] synonym: "MCCRP1" RELATED [MONDO:Lexical, OMIM:251270] +synonym: "microcephaly and chorioretinopathy caused by mutation in TUBGCP6" EXACT [MONDO:design_pattern] synonym: "microcephaly and chorioretinopathy type 1" EXACT [DOID:0080105, MONDORULE:1] synonym: "microcephaly and chorioretinopathy, autosomal recessive, 1" RELATED [MONDO:Lexical, OMIM:251270] synonym: "microcephaly and chorioretinopathy, autosomal recessive, 1; MCCRP1" RELATED [OMIM:251270] synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 1" EXACT [MONDORULE:1, OMIM:251270] synonym: "Pseudotoxoplasmosis syndrome" EXACT [Orphanet:2518] +synonym: "TUBGCP6 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern] xref: DOID:0080105 {source="MONDO:equivalentTo"} xref: ICD10:Q87.8 {source="ORDO:2518/attributed", source="Orphanet:2518", source="ORDO:2518/ntbt"} xref: NCIT:C129306 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} @@ -180579,11 +182267,12 @@ xref: UMLS:C3278481 {source="OMIM:251270"} xref: UMLS:C3502492 {source="Orphanet:2518"} is_a: MONDO:0000181 {source="DC-OMIM:251270", source="MONDOLEX:0009624", source="OMIM:251270"} ! microcephaly and chorioretinopathy is_a: MONDO:0002254 {source="DOID:0080105", source="MONDOLEX:0009624"} ! syndromic disease -is_a: MONDO:0019118 {source="Orphanet:2518"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:2518"} ! inherited retinal dystrophy is_a: MONDO:0020262 {source="Orphanet:2518"} ! nervous system anomaly with eye involvement intersection_of: MONDO:0000181 ! microcephaly and chorioretinopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18127 ! TUBGCP6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18127 {source="mim2gene_medgen"} ! TUBGCP6 +relationship: disease_has_feature MONDO:0019118 {source="modified-Orphanet:2518"} ! inherited retinal dystrophy property_value: confidence "2.25" xsd:double [Term] @@ -180707,9 +182396,11 @@ is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease id: MONDO:0009629 name: Desbuquois dysplasia 1 def: "Any Desbuquois dysplasia in which the cause of the disease is a mutation in the CANT1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CANT1 Desbuquois dysplasia" EXACT [MONDO:design_pattern] synonym: "DBQD1" RELATED [MONDO:Lexical, OMIM:251450] synonym: "Desbuquois dysplasia 1" EXACT [MONDO:Lexical, OMIM:251450] synonym: "Desbuquois dysplasia 1; DBQD1" RELATED [OMIM:251450] +synonym: "Desbuquois dysplasia caused by mutation in CANT1" EXACT [MONDO:design_pattern] synonym: "Desbuquois dysplasia type 1" EXACT [MONDORULE:1, OMIM:251450] synonym: "Desbuquois dysplasia, Kim variant" RELATED [OMIM:251450] synonym: "Desbuquois syndrome" RELATED [OMIM:251450] @@ -180826,6 +182517,8 @@ synonym: "microvillus atrophy, congenital" RELATED [OMIM:251850] synonym: "microvillus inclusion disease" EXACT [OMIM:251850] synonym: "MVD" EXACT [DOID:0060775] synonym: "MVID" EXACT [Orphanet:2290] +synonym: "MYO5B secretory diarrhea" EXACT [MONDO:design_pattern] +synonym: "secretory diarrhea caused by mutation in MYO5B" EXACT [MONDO:design_pattern] xref: DOID:0060775 {source="MONDO:equivalentTo"} xref: GARD:0007039 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:P78.3 {source="Orphanet:2290", source="DOID:0060775", source="ORDO:2290/attributed", source="ORDO:2290/ntbt"} @@ -180838,6 +182531,8 @@ xref: UMLS:C0341306 {source="NCBI:mim2gene_medline", source="Orphanet:2290", sou is_a: MONDO:0000824 {source="DC-OMIM:251850", source="DOID:0060775", source="OMIM:251850"} ! congenital diarrhea is_a: MONDO:0015182 {source="Orphanet:2290"} ! congenital enteropathy involving intestinal mucosa development is_a: MONDO:0019126 {source="Orphanet:2290"} ! intractable diarrhea of infancy +intersection_of: MONDO:0000249 {source="mim2gene_medgen"} ! secretory diarrhea +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7603 {source="mim2gene_medgen"} ! MYO5B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7603 {source="mim2gene_medgen"} ! MYO5B [Term] @@ -180845,8 +182540,10 @@ id: MONDO:0009636 name: mitochondrial DNA depletion syndrome 3 def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the DGUOK gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:279934"} +synonym: "DGUOK mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern] synonym: "mitochondrial DNA depletion syndrome 3 (hepatocerebral type)" RELATED [MONDO:Lexical, OMIM:251880] synonym: "mitochondrial DNA depletion syndrome 3 (hepatocerebral type); MTDPS3" RELATED [OMIM:251880] +synonym: "mitochondrial DNA depletion syndrome caused by mutation in DGUOK" EXACT [MONDO:design_pattern] synonym: "mitochondrial DNA depletion syndrome type 3" EXACT [DOID:0080121, MONDORULE:1] synonym: "mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency" RELATED [Orphanet:279934] synonym: "MTDPS3" RELATED [MONDO:Lexical, OMIM:251880] @@ -180868,6 +182565,7 @@ id: MONDO:0009637 name: mitochondrial myopathy def: "Myopathy caused by mitochondrial abnormalities." [NCIT:C101328] subset: ordo_group_of_disorders {source="Orphanet:206966"} +synonym: "mitochondrial cytopathy" EXACT [DOID:699] synonym: "mitochondrial cytopathy (disorder)" EXACT [DOID:699, SCTID:240096000] synonym: "mitochondrial myopathy" EXACT [NCIT:C101328, OMIM:251900] xref: DOID:699 {source="MONDO:equivalentTo"} @@ -181061,7 +182759,7 @@ xref: Orphanet:99732 {source="OMIM:252150", source="MONDO:subClassOf"} xref: UMLS:C0268119 {source="OMIM:252150"} xref: UMLS:C1854988 {source="DOID:0111164", source="Orphanet:308386", source="NCBI:mim2gene_medline", source="OMIM:252150", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: url:https\://www.ncbi.nlm.nih.gov/pubmed/9731530 {source="DOID:0111164"} -is_a: MONDO:0020480 {source="OMIM:252150", source="Orphanet:308386"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency +is_a: MONDO:0020480 {source="DOID:0111164", source="OMIM:252150", source="Orphanet:308386"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7190 {source="mim2gene_medgen"} ! MOCS1 property_value: confidence "7.124999999999998" xsd:double @@ -181086,7 +182784,7 @@ xref: Orphanet:833 {source="OMIM:252160", source="MONDO:subClassOf"} xref: Orphanet:99732 {source="OMIM:252160", source="MONDO:subClassOf"} xref: UMLS:C1854989 {source="NCBI:mim2gene_medline", source="OMIM:252160", source="Orphanet:308393", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="DOID:0111163"} xref: url:https\://www.ncbi.nlm.nih.gov/pubmed/10053004 {source="DOID:0111163"} -is_a: MONDO:0020480 {source="OMIM:252160", source="Orphanet:308393"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency +is_a: MONDO:0020480 {source="DOID:0111163", source="OMIM:252160", source="Orphanet:308393"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7193 {source="mim2gene_medgen"} ! MOCS2 property_value: confidence "7.124999999999998" xsd:double @@ -181240,9 +182938,9 @@ synonym: "ML III gamma" EXACT [Orphanet:423470] synonym: "Mucolipidosis 3 gamma" RELATED [OMIM:252605] synonym: "Mucolipidosis 3C" RELATED [OMIM:252605] synonym: "MUCOLIPIDOSIS III gamma" RELATED [OMIM:252605] -synonym: "Mucolipidosis Iii, complementation group C" RELATED [OMIM:252605] -synonym: "Mucolipidosis Iii, Iranian variant form" RELATED [OMIM:252605] -synonym: "Mucolipidosis Iii, variant form" RELATED [OMIM:252605] +synonym: "Mucolipidosis III, complementation group C" RELATED [OMIM:252605] +synonym: "Mucolipidosis III, Iranian variant form" RELATED [OMIM:252605] +synonym: "Mucolipidosis III, variant form" RELATED [OMIM:252605] synonym: "Mucolipidosis type 3 gamma" EXACT [Orphanet:423470] xref: ICD10:E77.0 {source="ORDO:423470/attributed", source="ORDO:423470/ntbt", source="Orphanet:423470"} xref: MESH:C565367 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -181286,7 +182984,7 @@ xref: Orphanet:578 {source="GARD:0000094", source="MONDO:equivalentTo", source=" xref: SCTID:111384001 {source="MONDO:kboom-pr-0.73/0.42/0.23", source="MONDO:equivalentTo"} xref: UMLS:C0238286 {source="ORDO:578/e", source="NCBI:mim2gene_medline", source="GARD:0000094", source="NCIT:C84896", source="MONDO:equivalentTo", source="OMIM:252650", source="Orphanet:578"} xref: UMLS:CN716584 {source="MONDO:equivalentTo"} -is_a: MONDO:0002561 {source="PMID:21502308"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="NCIT:C84896/inferred", source="Orphanet:578", source="Orphanet:578/inferred", source="PMID:21502308", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0015955 {source="MONDO:Entailed"} ! rare genetic epilepsy is_a: MONDO:0016397 {source="Orphanet:578"} ! lysosomal disease with epilepsy is_a: MONDO:0019248 {source="DC-OMIM:252650", source="NCIT:C84896", source="Orphanet:578", source="linkedlifedata"} ! mucolipidosis @@ -181311,15 +183009,15 @@ name: Sanfilippo syndrome type A def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme heparan sulfate sulfatase. It is characterized by behavioral changes, sleep disturbances, mental developmental delays and seizures." [NCIT:C84897] subset: gard_rare subset: ordo_etiological_subtype {source="Orphanet:79269"} -synonym: "Heparan sulfamidase deficiency" EXACT [Orphanet:79269] -synonym: "Heparan sulfate sulfatase deficiency" RELATED [OMIM:252900] -synonym: "Heparane sulfamidase deficiency" RELATED [GARD:0002649] +synonym: "heparan sulfamidase deficiency" EXACT [Orphanet:79269] +synonym: "heparan sulfate sulfatase deficiency" RELATED [OMIM:252900] +synonym: "heparane sulfamidase deficiency" RELATED [GARD:0002649] synonym: "MPS 3A" RELATED [OMIM:252900] synonym: "MPS III A" EXACT [NCIT:C84897] synonym: "MPS IIIA" RELATED [GARD:0007071] synonym: "MPS3A" EXACT [MONDO:Lexical, OMIM:252900, Orphanet:79269] synonym: "MPSIIIA" EXACT [Orphanet:79269] -synonym: "Mucopoly-saccharidosis type 3A" RELATED [GARD:0007071] +synonym: "mucopoly-saccharidosis type 3A" RELATED [GARD:0007071] synonym: "mucopolysaccharidosis type 3A" EXACT [Orphanet:79269] synonym: "mucopolysaccharidosis type IIIA" EXACT [Orphanet:79269] synonym: "mucopolysaccharidosis, type 3A" RELATED [OMIM:252900] @@ -181338,8 +183036,8 @@ xref: Orphanet:79269 {source="OMIM:252900", source="MONDO:equivalentTo"} xref: SCTID:41572006 {source="MONDO:kboom-pr-0.66/0.29/0.09", source="MONDO:equivalentTo"} xref: UMLS:C0086647 {source="NCBI:mim2gene_medline", source="Orphanet:79269", source="NCIT:C84897", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C1420015 {source="OMIM:252900"} -is_a: MONDO:0002561 {source="PMID:21723623"} ! lysosomal storage disease -is_a: MONDO:0018937 {source="MONDOLEX:0009655", source="NCIT:C84897", source="Orphanet:79269"} ! mucopolysaccharidosis type 3 +is_a: MONDO:0002561 {source="NCIT:C84897/inferred", source="Orphanet:79269/inferred", source="PMID:21723623", source="linkedlifedata/inferred"} ! lysosomal storage disease +is_a: MONDO:0018937 {source="MONDOLEX:0009655", source="NCIT:C84897", source="Orphanet:79269", source="linkedlifedata"} ! mucopolysaccharidosis type 3 relationship: disease_has_basis_in_disruption_of GO:0004561 ! alpha-N-acetylglucosaminidase activity relationship: disease_has_basis_in_disruption_of GO:0016250 ! N-sulfoglucosamine sulfohydrolase activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10818 {source="mim2gene_medgen"} ! SGSH @@ -181350,7 +183048,7 @@ id: MONDO:0009656 name: Sanfilippo syndrome type B def: "A rare autosomal recessive lysosomal storage disease caused by deficiency of the enzyme N-acetyl-alpha-D-glucosaminidase. It is characterized by behavioral changes, sleep disturbances, and mental developmental delays." [NCIT:C84898] subset: ordo_etiological_subtype {source="Orphanet:79270"} -synonym: "Mps 3B" RELATED [OMIM:252920] +synonym: "MPS 3B" RELATED [OMIM:252920] synonym: "MPS III B" EXACT [NCIT:C84898] synonym: "MPS IIIB" RELATED [GARD:0007072] synonym: "MPS3B" EXACT [MONDO:Lexical, OMIM:252920, Orphanet:79270] @@ -181407,7 +183105,7 @@ xref: Orphanet:581 {source="OMIM:252930", source="MONDO:subClassOf"} xref: Orphanet:79271 {source="OMIM:252930", source="MONDO:equivalentTo"} xref: SCTID:75238000 {source="MONDO:kboom-pr-1.00/0.79/8.51", source="MONDO:equivalentTo"} xref: UMLS:C0086649 {source="NCBI:mim2gene_medline", source="NCIT:C84899", source="MEDGEN:kboom-pr98-c99", source="OMIM:252930", source="MONDO:equivalentTo", source="Orphanet:79271"} -is_a: MONDO:0018937 {source="MONDOLEX:0009657", source="NCIT:C84899", source="Orphanet:79271"} ! mucopolysaccharidosis type 3 +is_a: MONDO:0018937 {source="MONDOLEX:0009657", source="NCIT:C84899", source="Orphanet:79271", source="linkedlifedata"} ! mucopolysaccharidosis type 3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26527 {source="mim2gene_medgen"} ! HGSNAT property_value: confidence "23.49999999999999" xsd:double @@ -181418,7 +183116,7 @@ def: "A rare autosomal recessive lysosomal storage disease caused by deficiency subset: ordo_etiological_subtype {source="Orphanet:79272"} synonym: "glucosamine N-acetyl-6-sulfatase deficiency" EXACT [Orphanet:79272] synonym: "GNS deficiency" EXACT [Orphanet:79272] -synonym: "Mps 3D" RELATED [OMIM:252940] +synonym: "MPS 3D" RELATED [OMIM:252940] synonym: "MPS III D" EXACT [NCIT:C84900] synonym: "MPS IIID" RELATED [GARD:0007074] synonym: "MPS3D" EXACT [MONDO:Lexical, OMIM:252940, Orphanet:79272] @@ -181441,7 +183139,7 @@ xref: Orphanet:581 {source="MONDO:subClassOf", source="OMIM:252940"} xref: Orphanet:79272 {source="OMIM:252940", source="MONDO:equivalentTo"} xref: SCTID:15892005 {source="MONDO:kboom-pr-1.00/0.79/8.51", source="MONDO:equivalentTo"} xref: UMLS:C0086650 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="NCIT:C84900", source="OMIM:252940", source="Orphanet:79272", source="MONDO:equivalentTo"} -is_a: MONDO:0018937 {source="MONDOLEX:0009658", source="NCIT:C84900", source="Orphanet:79272"} ! mucopolysaccharidosis type 3 +is_a: MONDO:0018937 {source="MONDOLEX:0009658", source="NCIT:C84900", source="Orphanet:79272", source="linkedlifedata"} ! mucopolysaccharidosis type 3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4422 {source="mim2gene_medgen"} ! GNS property_value: confidence "23.49999999999999" xsd:double @@ -181490,7 +183188,7 @@ subset: ordo_clinical_subtype {source="Orphanet:309310"} synonym: "Beta-D-galactosidase deficiency" EXACT [Orphanet:309310] synonym: "Morquio disease type B" EXACT [Orphanet:309310] synonym: "Morquio syndrome B" EXACT [OMIM:253010] -synonym: "Mps 4B" EXACT [OMIM:253010] +synonym: "MPS 4B" EXACT [OMIM:253010] synonym: "MPS IV B" EXACT [NCIT:C84902] synonym: "MPS IVB" RELATED [GARD:0003786] synonym: "MPS4B" EXACT [Orphanet:309310] @@ -181530,7 +183228,7 @@ synonym: "Maroteaux Lamy syndrome" RELATED [GARD:0007095] synonym: "Maroteaux-Lamy disease" EXACT [Orphanet:583] synonym: "Maroteaux-Lamy syndrome" EXACT [DOID:12800, MTHICD9_2006:277.5] synonym: "Maroteaux-Lamy syndrome" RELATED [OMIM:253200] -synonym: "Mps 6" RELATED [OMIM:253200] +synonym: "MPS 6" RELATED [OMIM:253200] synonym: "MPS VI" RELATED [GARD:0007095] synonym: "MPS VI - Maroteaux-Lamy syndrome" EXACT [DOID:12800] synonym: "MPS6" EXACT [Orphanet:583] @@ -181603,8 +183301,8 @@ xref: Orphanet:584 {source="OMIM:253220", source="MONDO:equivalentTo"} xref: SCTID:124470009 {source="DOID:12803"} xref: SCTID:43916004 {source="DOID:12803", source="MONDO:equivalentTo"} xref: UMLS:C0085132 {source="OMIM:253220", source="NCBI:mim2gene_medline", source="Orphanet:584", source="DOID:12803", source="ORDO:584/e", source="NCIT:C84903", source="MONDO:equivalentTo"} -is_a: MONDO:0002561 {source="PMID:21723623"} ! lysosomal storage disease -is_a: MONDO:0019249 {source="DC-OMIM:253220", source="DOID:12803", source="MESH:D016538", source="MONDO:Entailed", source="NCIT:C84903", source="OMIM:253220", source="Orphanet:584", source="linkedlife"} ! mucopolysaccharidosis +is_a: MONDO:0002561 {source="DOID:12803/inferred", source="MESH:D016538/inferred", source="NCIT:C84903/inferred", source="Orphanet:584/inferred", source="PMID:21723623", source="linkedlifedata/inferred"} ! lysosomal storage disease +is_a: MONDO:0019249 {source="DC-OMIM:253220", source="DOID:12803", source="MESH:D016538", source="MONDO:Entailed", source="NCIT:C84903", source="OMIM:253220", source="Orphanet:584", source="linkedlifedata"} ! mucopolysaccharidosis is_a: MONDO:0019706 {source="Orphanet:584"} ! lysosomal storage disease with skeletal involvement intersection_of: MONDO:0019249 ! mucopolysaccharidosis intersection_of: disease_has_basis_in_disruption_of GO:0004566 ! beta-glucuronidase activity @@ -181689,7 +183387,7 @@ xref: UMLS:CN043572 {source="MONDO:equivalentTo"} is_a: MONDO:0015454 {source="DOID:856", source="MESH:D028921", source="Orphanet:79241"} ! multiple carboxylase deficiency is_a: MONDO:0016133 {source="Orphanet:79241"} ! rare hereditary metabolic disease with peripheral neuropathy is_a: MONDO:0017760 {source="Orphanet:79241"} ! disorder of other vitamins and cofactors metabolism and transport -is_a: MONDO:0019052 {source="MESH:D028921/inferred", source="MONDO:Redundant", source="NCIT:C84598", source="Orphanet:79241/inferred", source="linkedlifedata"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:856/inferred", source="MESH:D028921/inferred", source="MONDO:Redundant", source="NCIT:C84598", source="Orphanet:79241/inferred", source="linkedlifedata"} ! inborn errors of metabolism is_a: MONDO:0100033 {source="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1122 {source="mim2gene_medgen"} ! BTD property_value: confidence "3.7222222222222214" xsd:double @@ -181729,8 +183427,8 @@ xref: SCTID:360367001 {source="DOID:859"} xref: SCTID:360369003 {source="DOID:859", source="MONDO:equivalentTo"} xref: UMLS:C0268581 {source="DOID:859", source="Orphanet:79242", source="NCBI:mim2gene_medline", source="NCIT:C98842", source="OMIM:253270", source="ORDO:79242/e", source="MONDO:equivalentTo"} is_a: MONDO:0015454 {source="DOID:859", source="MESH:D028922", source="Orphanet:79242"} ! multiple carboxylase deficiency -is_a: MONDO:0019052 {source="MESH:D028922/inferred", source="MONDO:Redundant", source="NCIT:C98842", source="Orphanet:79242/inferred", source="linkedlifedata"} ! inborn errors of metabolism -is_a: MONDO:0019242 {source="linkedlife"} ! inborn disorder of branched-chain amino acid metabolism +is_a: MONDO:0019052 {source="DOID:859/inferred", source="MESH:D028922/inferred", source="MONDO:Redundant", source="NCIT:C98842", source="Orphanet:79242/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inborn errors of metabolism +is_a: MONDO:0019242 {source="linkedlifedata", source="linkedlifedata/inferred"} ! inborn disorder of branched-chain amino acid metabolism is_a: MONDO:0100033 {source="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy relationship: disease_has_basis_in_disruption_of GO:0018271 ! biotin-protein ligase activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4976 {source="mim2gene_medgen"} ! HLCS @@ -181843,7 +183541,7 @@ xref: UMLS:C0043116 {source="DOID:0060160", source="NCBI:mim2gene_medline", sour xref: UMLS:C0152109 {source="DOID:0060160", source="MONDO:superClassOf"} xref: UMLS:C0393538 {source="DOID:0060160"} xref: UMLS:C0700595 {source="DOID:0060160", source="MONDO:superClassOf"} -is_a: MONDO:0001516 {source="DOID:0060160", source="MONDO:Redundant", source="NCIT:C98670", source="linkedlifedata"} ! spinal muscular atrophy +is_a: MONDO:0001516 {source="DOID:0060160", source="DOID:13137/inferred", source="MONDO:Redundant", source="NCIT:C98670", source="linkedlifedata"} ! spinal muscular atrophy is_a: MONDO:0015952 {source="OWLReasoner:2017"} ! genetic neurodegenerative disease is_a: MONDO:0019079 {source="Orphanet:83330"} ! proximal spinal muscular atrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11117 {source="mim2gene_medgen"} ! SMN1 @@ -181854,6 +183552,7 @@ id: MONDO:0009670 name: lethal congenital contracture syndrome 1 def: "Lethal congenital contracture syndrome type 1 is a rare, genetic arthrogryposis syndrome characterized by total fetal akinesia (detectable since the 13th week of gestation) accompanied by hydrops, micrognathia, pulmonary hypoplasia, pterygia and multiple joint contractures (usually flexion contractures in the elbows and extension in the knees), leading invariably to death before the 32nd week of gestation. Lack of anterior horn motoneurons, severe atrophy of the ventral spinal cord and severe skeletal muscle hypoplasia are characteristic neuropathological findings, with no evidence of other organ structural anomalies." [Orphanet:1486] subset: ordo_malformation_syndrome {source="Orphanet:1486"} +synonym: "GLE1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern] synonym: "Herva disease" EXACT [Orphanet:1486] synonym: "Lccs" RELATED [OMIM:253310] synonym: "LCCS1" EXACT [DOID:0060559, Orphanet:1486] @@ -181861,6 +183560,7 @@ synonym: "LCCS1" RELATED [MONDO:Lexical, OMIM:253310] synonym: "lethal autosomal recessive syndrome of multiple congenital contractures" RELATED [GARD:0003227] synonym: "lethal congenital contracture syndrome 1" EXACT [MONDO:Lexical, OMIM:253310] synonym: "lethal congenital contracture syndrome 1; LCCS1" RELATED [OMIM:253310] +synonym: "lethal congenital contracture syndrome caused by mutation in GLE1" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 1" EXACT [DOID:0060559, MONDORULE:1, OMIM:253310] synonym: "multiple contracture syndrome, Finnish type" EXACT [DOID:0060559, OMIM:253310, Orphanet:1486] xref: DOID:0060559 {source="MONDO:equivalentTo"} @@ -181908,11 +183608,13 @@ name: juvenile spinal muscular atrophy def: "Proximal spinal muscular atrophy type 3 (SMA3) is a relatively mild form of proximal spinal muscular atrophy (see this term) characterized by muscle weakness and hypotonia resulting from the degeneration and loss of the lower motor neurons in the spinal cord and the brain stem nuclei." [Orphanet:83419] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:83419"} +synonym: "childhood spinal muscular atrophy" EXACT [MONDO:design_pattern] synonym: "juvenile spinal muscular atrophy" EXACT [Orphanet:83419] synonym: "Kugelberg-Welander disease" EXACT [DOID:12376, ICD9CM_2006:335.11, Orphanet:83419] synonym: "Kugelberg-Welander syndrome" RELATED [GARD:0000198, OMIM:253400] synonym: "KWS" RELATED [GARD:0000198] synonym: "muscular atrophy, juvenile" RELATED [GARD:0000198, OMIM:253400] +synonym: "pediatric spinal muscular atrophy" EXACT [MONDO:design_pattern] synonym: "proximal spinal muscular atrophy type 3" RELATED [Orphanet:83419] synonym: "SMA 3" RELATED [GARD:0000198] synonym: "Sma 3" RELATED [OMIM:253400] @@ -181943,7 +183645,7 @@ xref: Orphanet:83419 {source="GARD:0000198", source="OMIM:253400", source="MONDO xref: SCTID:54280009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12376", source="MONDO:equivalentTo"} xref: UMLS:C0152109 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="DOID:12376", source="Orphanet:83419", source="NCIT:C118847", source="GARD:0000198", source="OMIM:253400", source="MONDO:equivalentTo"} xref: UMLS:C0700595 {source="MEDGEN:kboom-pr98-c99", source="DOID:12376", source="MONDO:equivalentTo"} -is_a: MONDO:0001516 {source="MONDO:Redundant", source="NCIT:C118847", source="linkedlifedata"} ! spinal muscular atrophy +is_a: MONDO:0001516 {source="DOID:12376/inferred", source="MONDO:Redundant", source="NCIT:C118847", source="linkedlifedata"} ! spinal muscular atrophy is_a: MONDO:0009669 {source="DOID:12376", source="MONDOLEX:0009672"} ! Werdnig-Hoffmann disease is_a: MONDO:0015952 {source="OWLReasoner:2017"} ! genetic neurodegenerative disease is_a: MONDO:0019079 {source="Orphanet:83419"} ! proximal spinal muscular atrophy @@ -182009,7 +183711,9 @@ id: MONDO:0009675 name: autosomal recessive limb-girdle muscular dystrophy type 2A def: "Autosomal recessive limb-girdle muscular dystrophy type 2A (LGMD2A) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a variable age of onset of progressive, typically symmetrical and selective weakness and atrophy of proximal shoulder- and pelvic-girdle muscles (gluteus maximus, thigh adductors, and muscles of the posterior compartment of the limbs are most commonly affected) without cardiac or facial involvement. Clinical manifestations include exercise intolerance, a waddling gait, scapular winging and calf pseudo-hypertrophy." [Orphanet:267] subset: ordo_disease {source="Orphanet:267"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in CAPN3" EXACT [MONDO:design_pattern] synonym: "calpainopathy" EXACT [OMIM:253600] +synonym: "CAPN3 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "Leyden-Moebius muscular dystrophy" EXACT [DOID:0110275] synonym: "Leyden-Moebius muscular dystrophy" RELATED [OMIM:253600] synonym: "LGMD2" RELATED [GARD:0001057] @@ -182039,7 +183743,7 @@ xref: UMLS:C1299884 {source="OMIM:253600"} xref: UMLS:C1869123 {source="Orphanet:267", source="NCBI:mim2gene_medline", source="OMIM:253600", source="ORDO:267/e"} is_a: MONDO:0015152 {source="DOID:0110275", source="MONDOLEX:0009675", source="OMIM:253600", source="Orphanet:267"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016152 {source="Orphanet:267"} ! qualitative or quantitative defects of calpain -is_a: MONDO:0016971 {source="MESH:C535895", source="MONDO:Redundant", source="NCIT:C142079", source="Orphanet:267/inferred"} ! limb-girdle muscular dystrophy +is_a: MONDO:0016971 {source="DOID:0110275/inferred", source="MESH:C535895", source="MONDO:Redundant", source="NCIT:C142079", source="Orphanet:267/inferred"} ! limb-girdle muscular dystrophy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1480 ! CAPN3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1480 {source="mim2gene_medgen"} ! CAPN3 @@ -182050,6 +183754,8 @@ id: MONDO:0009676 name: autosomal recessive limb-girdle muscular dystrophy type 2B def: "Autosomal recessive limb-girdle muscular dystrophy type 2B (LGMD2B) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by an onset in late adolescence or early adulthood of slowly progressive, proximal weakness and atrophy of shoulder and pelvic girdle muscles. Cardiac and respiratory muscles are not involved. Hypertrophy of the calf muscles and highly elevated serum creatine kinase levels are frequently observed." [Orphanet:268] subset: ordo_disease {source="Orphanet:268"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DYSF" EXACT [MONDO:design_pattern] +synonym: "DYSF autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "LGMD2B" EXACT [DOID:0110276, MONDO:Lexical, OMIM:253601, Orphanet:268] synonym: "LGMD3" EXACT [DOID:0110276] synonym: "limb-girdle muscular dystrophy due to dysferlin deficiency" EXACT [DOID:0110276, Orphanet:268] @@ -182070,7 +183776,7 @@ xref: SCTID:718179003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/ xref: UMLS:C1850889 {source="Orphanet:268", source="NCBI:mim2gene_medline", source="OMIM:253601"} is_a: MONDO:0015152 {source="DOID:0110276", source="MONDOLEX:0009676", source="OMIM:253601", source="Orphanet:268"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016145 {source="Orphanet:268"} ! qualitative or quantitative defects of dysferlin -is_a: MONDO:0016971 {source="MESH:C535899", source="MONDO:Redundant", source="NCIT:C142080", source="Orphanet:268/inferred"} ! limb-girdle muscular dystrophy +is_a: MONDO:0016971 {source="DOID:0110276/inferred", source="MESH:C535899", source="MONDO:Redundant", source="NCIT:C142080", source="Orphanet:268/inferred"} ! limb-girdle muscular dystrophy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3097 ! DYSF relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3097 {source="mim2gene_medgen"} ! DYSF @@ -182083,6 +183789,7 @@ def: "Autosomal recessive limb-girdle muscular dystrophy type 2C (LGMD2C) is a s subset: ordo_disease {source="Orphanet:353"} synonym: "Adhalin deficiency, secondary" RELATED [OMIM:253700] synonym: "autosomal recessive Duchenne-like muscular dystrophy type 1" EXACT [DOID:0110277] +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCG" EXACT [MONDO:design_pattern] synonym: "deficiency of sarcoglycan gamma" EXACT [DOID:0110277] synonym: "Dmda" RELATED [OMIM:253700] synonym: "DMDA1" EXACT [DOID:0110277] @@ -182102,6 +183809,7 @@ synonym: "sarcoglycan, gamma, deficiency of" RELATED [OMIM:253700] synonym: "SCARMD" EXACT [DOID:0110277] synonym: "severe childhood autosomal recessive muscular dystrophy North African type" EXACT [DOID:0110277] synonym: "Severe childhood autosomal recessive muscular dystrophy, North African type" RELATED [OMIM:253700] +synonym: "SGCG autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110277 {source="MONDO:equivalentTo"} xref: GARD:0002429 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G71.0 {source="Orphanet:353", source="DOID:0110277", source="ORDO:353/ntbt", source="MONDO:subClassOf", source="ORDO:353/inclusion"} @@ -182141,7 +183849,7 @@ xref: UMLS:C0410174 {source="ORDO:272/e", source="NCBI:mim2gene_medline", source is_a: MONDO:0000171 {source="OMIM:253800"} ! muscular dystrophy-dystroglycanopathy, type A is_a: MONDO:0018939 ! muscle-eye-brain disease is_a: MONDO:0019523 {source="OMIM:253800", source="ORDO:899/btnt"} ! Walker-Warburg syndrome -is_a: MONDO:0020121 {source="NCIT:C126741", source="Orphanet:272/inferred"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:0050559/inferred", source="NCIT:C126741", source="OMIM:253800/inferred", source="Orphanet:272/inferred", source="linkedlifedata/inferred"} ! muscular dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3622 {source="mim2gene_medgen"} ! FKTN property_value: confidence "0.5294117647058822" xsd:double @@ -182217,6 +183925,7 @@ id: MONDO:0009683 name: autosomal recessive limb-girdle muscular dystrophy type 2H def: "Autosomal recessive limb-girdle muscular dystrophy type 2H (LGMD2H) is a mild subtype of autosomal recessive limb girdle muscular dystrophy characterized by slowly progressive proximal muscle weakness and wasting of the pelvic and shoulder girdles with onset that usually occurs during the second or third decade of life. Clinical presentation is variable and can include calf psuedohypertrophy, joint contractures, scapular winging, muscle cramping and/or facial and respiratory muscle involvement." [Orphanet:1878] subset: ordo_disease {source="Orphanet:1878"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRIM32" EXACT [MONDO:design_pattern] synonym: "LGMD2H" EXACT [DOID:0110282, MONDO:Lexical, OMIM:254110, Orphanet:1878] synonym: "limb-girdle muscular dystrophy due to TRIM32 deficiency" EXACT [DOID:0110282, Orphanet:1878] synonym: "limb-girdle muscular dystrophy type 2H" RELATED [GARD:0003844] @@ -182228,6 +183937,7 @@ synonym: "muscular dystrophy, limb-girdle, type 2H; LGMD2H" RELATED [OMIM:254110 synonym: "Sarcotubular Myopathy" RELATED [OMIM:254110] synonym: "Sarcotubular myopathy" EXACT [Orphanet:1878] synonym: "sarcotubular myopathy" EXACT [DOID:0110282] +synonym: "TRIM32 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110282 {source="MONDO:equivalentTo"} xref: GARD:0003844 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G71.0 {source="ORDO:1878/inclusion", source="Orphanet:1878", source="ORDO:1878/ntbt", source="MONDO:subClassOf", source="DOID:0110282"} @@ -182334,7 +184044,7 @@ xref: SCTID:91637004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:00049 xref: UMLS:C0026896 {source="OMIM:254200", source="NCBI:mim2gene_medline", source="DOID:437", source="MONDO:equivalentTo", source="NCIT:C60989", source="ORDO:589/e", source="Orphanet:589"} xref: UMLS:C1260409 {source="DOID:437"} is_a: MONDO:0000590 {source="DOID:437", source="MONDO:Entailed"} ! autoimmune disease of peripheral nervous system -is_a: MONDO:0002977 {source="MESH:D009157", source="MONDO:Redundant", source="NCIT:C60989"} ! autoimmune disease of the nervous system +is_a: MONDO:0002977 {source="DOID:437/inferred", source="MESH:D009157", source="MONDO:Redundant", source="NCIT:C60989"} ! autoimmune disease of the nervous system is_a: MONDO:0018743 {source="Orphanet:589"} ! immune-mediated acquired neuromuscular junction disease relationship: disease_has_basis_in_disruption_of GO:0022848 ! acetylcholine-gated cation-selective channel activity property_value: confidence "0.8888888888888891" xsd:double @@ -182345,6 +184055,7 @@ id: MONDO:0009689 name: congenital myasthenic syndrome 6 def: "Congenital myasthenic syndrome caused by mutation(s) in the CHAT gene, encoding choline O-acetyltransferase. It is inherited in an autosomal recessive manner." [NCIT:C132292] subset: gard_rare +synonym: "CHAT congenital myasthenic syndrome" EXACT [MONDO:design_pattern] synonym: "CMS Ia2" EXACT [DOID:0110671] synonym: "Cms Ia2" RELATED [OMIM:254210] synonym: "CMS Ia2, formerly" RELATED [MESH:C535759] @@ -182359,6 +184070,7 @@ synonym: "CMS6" RELATED [MESH:C535759, MONDO:Lexical, OMIM:254210] synonym: "CMSEA" EXACT [DOID:0110671] synonym: "CMSEA" RELATED [MESH:C535759] synonym: "congenital myasthenic syndrome 6, presynaptic" EXACT [DOID:0110671] +synonym: "congenital myasthenic syndrome caused by mutation in CHAT" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 1a" RELATED [GARD:0009689, MESH:C535759] synonym: "congenital myasthenic syndrome type 6" EXACT [DOID:0110671, MONDORULE:1] synonym: "congenital myasthenic syndrome type Ia" RELATED [MESH:C535759] @@ -182396,8 +184108,8 @@ xref: Orphanet:590 {source="OMIM:254210", source="MONDO:subClassOf"} xref: Orphanet:98914 {source="OMIM:254210", source="MONDO:subClassOf", source="GARD:0009689"} xref: SCTID:230670003 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0393929 {source="OMIM:254210", source="NCBI:mim2gene_medline", source="NCIT:C132292", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009689"} -is_a: MONDO:0009688 {source="MESH:C535759", source="linkedlifedata"} ! myasthenia gravis -is_a: MONDO:0018940 {source="MONDO:0009689/inferred", source="MONDO:Redundant", source="MONDOLEX:0009689/inferred", source="NCIT:C132292", source="OMIM:254210"} ! congenital myasthenic syndrome +is_a: MONDO:0009688 {source="MESH:C535759", source="linkedlifedata", source="linkedlifedata/inferred"} ! myasthenia gravis +is_a: MONDO:0018940 {source="DOID:0110671", source="MONDO:0009689/inferred", source="MONDO:Redundant", source="MONDOLEX:0009689/inferred", source="NCIT:C132292", source="OMIM:254210"} ! congenital myasthenic syndrome is_a: MONDO:0020345 {source="MONDOLEX:0009689", source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1912 ! CHAT @@ -182415,9 +184127,11 @@ synonym: "Cms Ib, formerly" RELATED [OMIM:254300] synonym: "CMS10" EXACT [DOID:0110668] synonym: "CMS10" RELATED [MONDO:Lexical, OMIM:254300] synonym: "CMS1B" EXACT [DOID:0110668] +synonym: "congenital myasthenic syndrome caused by mutation in DOK7" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 10" EXACT [DOID:0110668, MONDORULE:2] synonym: "congenital myasthenic syndrome type IB" EXACT [DOID:0110668, OMIM:254300] synonym: "congenital myasthenic syndrome type IB, formerly" RELATED [OMIM:254300] +synonym: "DOK7 congenital myasthenic syndrome" EXACT [MONDO:design_pattern] synonym: "familial limb-girdle myasthenia" EXACT [DOID:0110668] synonym: "LGM" EXACT [DOID:0110668] synonym: "myasthenia, limb-girdle, familial" RELATED [OMIM:254300] @@ -182434,7 +184148,7 @@ xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:254300"} xref: Orphanet:98913 {source="MONDO:subClassOf", source="OMIM:254300"} xref: SCTID:230687001 {source="MONDO:kboom-pr-0.99/0.73/5.45", source="MONDO:equivalentTo"} xref: UMLS:C1850792 {source="NCBI:mim2gene_medline", source="OMIM:254300"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:254300"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110668", source="MONDO:Redundant", source="OMIM:254300"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26594 ! DOK7 @@ -182557,6 +184271,7 @@ synonym: "Kahler's disease" EXACT [Orphanet:29073] synonym: "medullary plasmacytoma" EXACT [Orphanet:29073] synonym: "multiple myeloma" EXACT [NCIT:C3242] synonym: "multiple myeloma/plasma cell myeloma" EXACT [NCIT:C3242] +synonym: "myeloid neoplasm of plasma cell" EXACT [MONDO:design_pattern] synonym: "myeloma" EXACT [NCIT:C3242] synonym: "myeloma - multiple" RELATED [GARD:0007108] synonym: "myeloma, multiple" RELATED [OMIM:254500] @@ -182617,7 +184332,7 @@ xref: Orphanet:2587 {source="OMIM:254600", source="MONDO:equivalentTo"} xref: SCTID:234433009 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0398595 {source="NCBI:mim2gene_medline", source="ORDO:2587/e", source="OMIM:254600", source="Orphanet:2587", source="MONDO:equivalentTo"} is_a: MONDO:0015978 {source="Orphanet:2587"} ! functional neutrophil defect -is_a: MONDO:0024626 {source="linkedlife"} ! defective phagocytic cell engulfment +is_a: MONDO:0024626 {source="linkedlifedata"} ! defective phagocytic cell engulfment relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7218 {source="mim2gene_medgen"} ! MPO property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3868/myeloperoxidase-deficiency xsd:anyURI {source="GARD:0003868"} @@ -182672,7 +184387,7 @@ xref: SCTID:6204001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4890" xref: UMLS:C0270853 {source="OMIM:254770", source="ORDO:307/e", source="NCIT:C84796", source="DOID:4890", source="Orphanet:307", source="MONDO:equivalentTo"} xref: UMLS:C1850778 {source="OMIM:254770", source="NCBI:mim2gene_medline"} is_a: MONDO:0000415 {source="DOID:4890"} ! adolescence-adult electroclinical syndrome -is_a: MONDO:0005027 {source="MESH:D020190/inferred", source="MONDO:Redundant", source="NCIT:C84796", source="linkedlifedata"} ! epilepsy +is_a: MONDO:0005027 {source="DOID:4890/inferred", source="MESH:D020190/inferred", source="MONDO:Redundant", source="NCIT:C84796", source="linkedlifedata", source="linkedlifedata/inferred"} ! epilepsy is_a: MONDO:0017654 {source="Orphanet:307"} ! non progressive epilepsy and/or ataxia with myoclonus as a major feature is_a: MONDO:0017704 {source="Orphanet:307"} ! familial partial epilepsy is_a: MONDO:0100030 {source="http://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome @@ -182901,6 +184616,8 @@ synonym: "CPT deficiency, hepatic, type 1" RELATED [OMIM:255120] synonym: "CPT I deficiency" EXACT [DOID:0090129] synonym: "CPT1A deficiency" EXACT [DOID:0090129, Orphanet:156] synonym: "CPT1A deficiency" RELATED [GARD:0001120] +synonym: "CPT1A disorder of carnitine cycle and carnitine transport" EXACT [MONDO:design_pattern] +synonym: "disorder of carnitine cycle and carnitine transport caused by mutation in CPT1A" EXACT [MONDO:design_pattern] synonym: "hepatic carnitine palmitoyl transferase 1 deficiency" EXACT [DOID:0090129, Orphanet:156] synonym: "hepatic carnitine palmitoyl transferase 1 deficiency" RELATED [GARD:0001120] synonym: "hepatic carnitine palmitoyl transferase I deficiency" EXACT [DOID:0090129, Orphanet:156] @@ -182985,6 +184702,8 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0009709 name: myopathy, centronuclear, 2 def: "Any centronuclear myopathy in which the cause of the disease is a mutation in the BIN1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BIN1 centronuclear myopathy" EXACT [MONDO:design_pattern] +synonym: "centronuclear myopathy caused by mutation in BIN1" EXACT [MONDO:design_pattern] synonym: "CNM2" RELATED [MONDO:Lexical, OMIM:255200] synonym: "myopathy, centronuclear, 2" EXACT [MONDO:Lexical, OMIM:255200] synonym: "MYOPATHY, centronuclear, 2; CNM2" RELATED [OMIM:255200] @@ -183102,7 +184821,7 @@ synonym: "MYP18" EXACT [MONDO:Lexical, OMIM:255500] xref: MESH:C567606 {source="MONDO:equivalentTo"} xref: OMIM:255500 {source="MONDO:equivalentTo"} xref: UMLS:C2749509 {source="OMIM:255500", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0001384 {source="DC-OMIM:255500", source="OMIM:255500"} ! myopia (disease) +is_a: MONDO:0001384 {source="DC-OMIM:255500", source="MESH:C567606", source="OMIM:255500"} ! myopia (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -183130,6 +184849,7 @@ property_value: confidence "0.46875" xsd:double id: MONDO:0009715 name: myotonia congenita, autosomal recessive def: "Autosomal recessive form of myotonia congenita." [MONDO:patterns/autosomal_recessive] +synonym: "autosomal recessive myotonia congenita" EXACT [MONDO:design_pattern] synonym: "Becker disease" RELATED [OMIM:255700] synonym: "myotonia congenita, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:255700] synonym: "myotonia, generalized" RELATED [OMIM:255700] @@ -183234,7 +184954,7 @@ xref: SCTID:190274003 {source="DOID:11634"} xref: SCTID:267465007 {source="DOID:11634"} xref: SCTID:43153006 {source="DOID:11634", source="EFO:1001055", source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0027145 {source="DOID:11634", source="NCBI:mim2gene_medline", source="OMIM:255900", source="MONDO:equivalentTo", source="NCIT:C34834"} -is_a: MONDO:0005420 {source="DOID:11634", source="EFO:1001055", source="MESH:D009230", source="NCIT:C34834"} ! hypothyroidism +is_a: MONDO:0005420 {source="DOID:11634", source="EFO:1001055", source="MESH:D009230", source="NCIT:C34834", source="linkedlifedata"} ! hypothyroidism [Term] id: MONDO:0009719 @@ -183391,10 +185111,12 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0009725 name: nemaline myopathy 2 def: "An autosomal recessive inherited myopathy caused by mutations in the NEB gene. It is characterized by generalized hypotonia and skeletal muscle weakness." [NCIT:C118784] +synonym: "NEB nemaline myopathy" EXACT [MONDO:design_pattern] synonym: "NEM2" EXACT [DOID:0110928, MONDO:Lexical, OMIM:256030] synonym: "nemaline myopathy 2" EXACT [MONDO:Lexical, OMIM:256030] synonym: "nemaline myopathy 2, autosomal recessive" EXACT [DOID:0110928] synonym: "nemaline MYOPATHY 2; NEM2" RELATED [OMIM:256030] +synonym: "nemaline myopathy caused by mutation in NEB" EXACT [MONDO:design_pattern] synonym: "nemaline Myopathy type 2" EXACT [MONDORULE:1, OMIM:256030] synonym: "nemaline myopathy type 2" EXACT [DOID:0110928, MONDORULE:1] xref: DOID:0110928 {source="MONDO:equivalentTo"} @@ -183404,12 +185126,12 @@ xref: OMIM:256030 {source="DOID:0110928", source="MONDO:equivalentTo"} xref: Orphanet:607 {source="OMIM:256030", source="MONDO:subClassOf"} xref: UMLS:C1850569 {source="NCBI:mim2gene_medline", source="NCIT:C118784", source="OMIM:256030", source="MONDO:equivalentTo"} xref: UMLS:CN187052 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0005336 {source="MONDO:Redundant", source="NCIT:C118784"} ! myopathy +is_a: MONDO:0005336 {source="DOID:0110928/inferred", source="MONDO:Redundant", source="NCIT:C118784"} ! myopathy is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy is_a: MONDO:0015736 {source="ORDO:171433/btnt"} ! intermediate nemaline myopathy is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy -is_a: MONDO:0018958 {source="MESH:C538349", source="MONDO:Redundant", source="OMIM:256030"} ! nemaline myopathy +is_a: MONDO:0018958 {source="DOID:0110928", source="MESH:C538349", source="MONDO:Redundant", source="OMIM:256030"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7720 ! NEB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7720 {source="mim2gene_medgen"} ! NEB @@ -183553,7 +185275,7 @@ xref: OMIM:256150 {source="MONDO:equivalentTo"} xref: Orphanet:87876 {source="OMIM:256150", source="MONDO:subClassOf"} xref: SCTID:81896006 {source="MONDO:kboom-pr-1.00/0.74/6.24", source="MONDO:equivalentTo"} xref: UMLS:C0268232 {source="NCBI:mim2gene_medline", source="OMIM:256150", source="MONDO:equivalentTo"} -is_a: MONDO:0009738 {source="MONDOLEX:0009730", source="ORDO:87876/btnt"} ! sialidosis type 2 +is_a: MONDO:0009738 {source="MONDOLEX:0009730", source="ORDO:87876/btnt", source="linkedlifedata"} ! sialidosis type 2 relationship: disease_has_feature MONDO:0002331 ! nephrosis property_value: confidence "3.3578947368421064" xsd:double @@ -183606,8 +185328,8 @@ xref: OMIM:256300 {source="Orphanet:839", source="MONDO:equivalentTo", source="O xref: Orphanet:839 {source="MONDO:equivalentTo", source="OMIM:256300"} xref: SCTID:197601003 {source="MONDO:equivalentTo"} xref: UMLS:C0403399 {source="NCBI:mim2gene_medline", source="NCIT:C122795", source="Orphanet:839", source="MONDO:equivalentTo", source="OMIM:256300", source="ORDO:839/e"} -is_a: MONDO:0002350 {source="MONDOLEX:0009732", source="OMIM:256300", source="linkedlife"} ! familial nephrotic syndrome -is_a: MONDO:0005377 {source="DC-OMIM:256300", source="MONDO:0009732/inferred", source="MONDO:Redundant", source="MONDOLEX:0009732/inferred", source="NCIT:C122795", source="OMIM:256300", source="linkedlife/inferred"} ! nephrotic syndrome +is_a: MONDO:0002350 {source="MONDOLEX:0009732", source="OMIM:256300", source="linkedlifedata"} ! familial nephrotic syndrome +is_a: MONDO:0005377 {source="DC-OMIM:256300", source="MONDO:0009732/inferred", source="MONDO:Redundant", source="MONDOLEX:0009732/inferred", source="NCIT:C122795", source="OMIM:256300", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! nephrotic syndrome is_a: MONDO:0019987 {source="Orphanet:839"} ! congenital and infantile nephrotic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7908 {source="mim2gene_medgen"} ! NPHS1 property_value: confidence "3.666666666666667" xsd:double @@ -183624,17 +185346,19 @@ synonym: "DMS" RELATED [GARD:0003547] synonym: "familial mesangial sclerosis" RELATED [GARD:0003547] synonym: "isolated diffuse mesangial sclerosis" RELATED [GARD:0003547] synonym: "mesangial sclerosis, diffuse" RELATED [GARD:0003547] +synonym: "nephrotic syndrome caused by mutation in WT1" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, early onset with diffuse mesangial sclerosis" RELATED [GARD:0003547] synonym: "nephrotic syndrome, type 4" EXACT [MONDO:Lexical, OMIM:256370] synonym: "nephrotic syndrome, type 4; NPHS4" RELATED [OMIM:256370] synonym: "NPHS4" RELATED [MONDO:Lexical, OMIM:256370] +synonym: "WT1 nephrotic syndrome" EXACT [MONDO:design_pattern] xref: GARD:0003547 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: NCIT:C121198 {source="MONDO:equivalentTo"} xref: OMIM:256370 {source="MONDO:equivalentTo"} xref: UMLS:C0268747 {source="NCBI:mim2gene_medline"} xref: UMLS:C3151568 {source="OMIM:256370", source="MONDO:relatedTo"} -is_a: MONDO:0002350 {source="OMIM:256370"} ! familial nephrotic syndrome -is_a: MONDO:0005377 {source="MONDO:Redundant", source="OMIM:256370"} ! nephrotic syndrome +is_a: MONDO:0002350 {source="NCIT:C121198", source="OMIM:256370"} ! familial nephrotic syndrome +is_a: MONDO:0005377 {source="MONDO:Redundant", source="NCIT:C121198/inferred", source="OMIM:256370"} ! nephrotic syndrome intersection_of: MONDO:0005377 ! nephrotic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12796 ! WT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12796 {source="mim2gene_medgen"} ! WT1 @@ -183719,8 +185443,10 @@ synonym: "3-Phosphoglycerate dehydrogenase deficiency, neonatal form" EXACT [Orp synonym: "Neu-Laxova syndrome" RELATED [OMIM:256520] synonym: "Neu-Laxova syndrome 1" EXACT [MONDO:Lexical, OMIM:256520] synonym: "NEU-Laxova syndrome 1; NLS1" RELATED [OMIM:256520] +synonym: "Neu-Laxova syndrome caused by mutation in PHGDH" EXACT [MONDO:design_pattern] synonym: "Neu-Laxova syndrome type 1" EXACT [DOID:0080076, MONDORULE:1, OMIM:256520] synonym: "NLS1" RELATED [MONDO:Lexical, OMIM:256520] +synonym: "PHGDH Neu-Laxova syndrome" EXACT [MONDO:design_pattern] xref: DOID:0080076 {source="MONDO:equivalentTo"} xref: ICD10:Q87.8 {source="Orphanet:2671"} xref: MESH:C536405 {source="Orphanet:2671", source="MONDO:subClassOf"} @@ -183762,7 +185488,7 @@ xref: OMIM:256540 {source="ORDO:351/e", source="Orphanet:351", source="MONDO:equ xref: Orphanet:351 {source="OMIM:256540", source="MONDO:equivalentTo"} xref: SCTID:35691006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.44"} xref: UMLS:C0268233 {source="NCIT:C129928", source="NCBI:mim2gene_medline", source="ORDO:351/e", source="Orphanet:351", source="OMIM:256540", source="MONDO:equivalentTo"} -is_a: MONDO:0002561 {source="MESH:C536411", source="MONDO:Redundant", source="NCIT:C129928", source="Orphanet:351/inferred", source="linkedlifedata"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="MESH:C536411", source="MONDO:Redundant", source="NCIT:C129928", source="Orphanet:351/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0019058 {source="Orphanet:351"} ! neurometabolic disease is_a: MONDO:0019251 {source="Orphanet:351"} ! oligosaccharidosis is_a: MONDO:0019706 {source="Orphanet:351"} ! lysosomal storage disease with skeletal involvement @@ -183782,6 +185508,7 @@ subset: ordo_disease {source="Orphanet:87876"} synonym: "cherry Red spot--myoclonus syndrome" RELATED [OMIM:256550] synonym: "dysmorphic sialidosis" EXACT [] synonym: "glycoprotein neuraminidase deficiency" RELATED [OMIM:256550] +synonym: "glycoproteinosis" RELATED [DOID:3343] synonym: "infantile dysmorphic sialidosis" EXACT [Orphanet:87876] synonym: "Lipomucopolysaccharidosis" RELATED [OMIM:256550] synonym: "ML 1" RELATED [OMIM:256550] @@ -183793,11 +185520,13 @@ synonym: "myoclonus--cherry Red spot syndrome" RELATED [OMIM:256550] synonym: "NEU 1 deficiency" RELATED [GARD:0007183] synonym: "Neu deficiency" RELATED [OMIM:256550] synonym: "Neu1 deficiency" RELATED [OMIM:256550] +synonym: "NEU1 sialidosis" EXACT [MONDO:design_pattern] synonym: "Neug deficiency" RELATED [OMIM:256550] synonym: "neuraminidase 1 deficiency" RELATED [OMIM:256550] synonym: "neuraminidase deficiency" RELATED [OMIM:256550] synonym: "sialidase deficiency" RELATED [OMIM:256550] synonym: "sialidosis" BROAD [DOID:3343] +synonym: "sialidosis caused by mutation in NEU1" EXACT [MONDO:design_pattern] synonym: "sialidosis, type 1" RELATED [OMIM:256550] synonym: "sialidosis, type 2" EXACT [OMIM:256550] synonym: "sialidosis, type II" RELATED [GARD:0007183] @@ -183823,7 +185552,7 @@ xref: UMLS:CN206285 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo" is_a: MONDO:0015159 {source="Orphanet:87876"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015327 {source="Orphanet:87876", source="Orphanet:87876/inferred"} ! developmental anomaly of metabolic origin is_a: MONDO:0015919 {source="Orphanet:87876"} ! syndromic neurometabolic disease with non-X-linked intellectual disability -is_a: MONDO:0017734 {source="Orphanet:87876", source="linkedlife"} ! sialidosis +is_a: MONDO:0017734 {source="Orphanet:87876", source="linkedlifedata"} ! sialidosis is_a: MONDO:0019706 {source="Orphanet:87876"} ! lysosomal storage disease with skeletal involvement is_a: MONDO:0019743 {source="Orphanet:87876"} ! nephropathy secondary to a storage or other metabolic disease is_a: MONDO:0020280 {source="Orphanet:87876"} ! metabolic disease with cataract @@ -183951,8 +185680,10 @@ synonym: "CLN1 variable age at onset" RELATED [GARD:0001219] synonym: "infantile CLN (type of CLN1)" RELATED [GARD:0001219] synonym: "juvenile CLN (type of CLN1)" RELATED [GARD:0001219] synonym: "neuronal ceroid lipofuscinosis 1 variable age of onset" EXACT [DOID:0110721] +synonym: "neuronal ceroid lipofuscinosis caused by mutation in PPT1" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 1" EXACT [DOID:0110721, MONDORULE:1] synonym: "neuronal ceroid lipofuscinosis, infantile" RELATED [OMIM:256730] +synonym: "PPT1 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern] synonym: "Santavuori disease" RELATED [OMIM:256730] synonym: "Santavuori-Haltia disease" RELATED [OMIM:256730] xref: DOID:0110721 {source="MONDO:equivalentTo"} @@ -183994,8 +185725,10 @@ synonym: "CLN5 disease" RELATED [Orphanet:228360] synonym: "CLN5 disease, adult" RELATED [GARD:0001223] synonym: "CLN5 disease, juvenile" RELATED [GARD:0001223] synonym: "CLN5 disease, late infantile (subtype)" RELATED [GARD:0001223] +synonym: "CLN5 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern] synonym: "Finnish Vlincl" RELATED [OMIM:256731] synonym: "neuronal ceroid lipofuscinosis 5 variable age of onset" EXACT [DOID:0110728] +synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN5" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis Finnish variant" RELATED [GARD:0001223] synonym: "neuronal ceroid lipofuscinosis type 5" EXACT [DOID:0110728, MONDORULE:1] synonym: "neuronal ceroid lipofuscinosis, late infantile, Finnish variant" RELATED [OMIM:256731] @@ -184008,7 +185741,7 @@ xref: Orphanet:168491 {source="OMIM:256731", source="MONDO:subClassOf"} xref: Orphanet:228360 {source="OMIM:256731", source="MONDO:equivalentTo", source="DOID:0110728"} xref: UMLS:C1850442 {source="OMIM:256731", source="NCBI:mim2gene_medline", source="Orphanet:228360"} is_a: MONDO:0015674 {source="MONDOLEX:0009745", source="Orphanet:228360"} ! late infantile neuronal ceroid lipofuscinosis -is_a: MONDO:0016295 {source="MONDO:Redundant", source="OMIM:256731", source="Orphanet:228360/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID:0110728", source="MONDO:Redundant", source="OMIM:256731", source="Orphanet:228360/inferred"} ! neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2076 ! CLN5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2076 {source="mim2gene_medgen"} ! CLN5 @@ -184026,6 +185759,7 @@ synonym: "congenital insensitivity to pain with anhidrosis" EXACT [NCIT:C118633] synonym: "congenital insensitivity to pain-anhidrosis syndrome" EXACT [Orphanet:642] synonym: "familial dysautonomia, type 2" RELATED [OMIM:256800] synonym: "hereditary sensory and autonomic neuropathy 4" RELATED [OMIM:256800] +synonym: "hereditary sensory and autonomic neuropathy caused by mutation in NTRK1" EXACT [MONDO:design_pattern] synonym: "hereditary sensory and autonomic neuropathy type IV" EXACT [Orphanet:642] synonym: "hereditary sensory neuropathy type 4" RELATED [DOID:0070146] synonym: "hereditary sensory neuropathy type IV" EXACT [DOID:0070146] @@ -184036,6 +185770,7 @@ synonym: "HSNAN4" RELATED [GARD:0003006] synonym: "insensitivity to pain, congenital, with anhidrosis" EXACT [DOID:0070146, MONDO:Lexical, OMIM:256800] synonym: "insensitivity to pain, congenital, with anhidrosis; CIPA" RELATED [OMIM:256800] synonym: "neuropathy, congenital sensory, with anhidrosis" RELATED [OMIM:256800] +synonym: "NTRK1 hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern] xref: DOID:0070146 {source="MONDO:equivalentTo"} xref: GARD:0003006 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: GARD:3006 {source="DOID:0070146"} @@ -184105,9 +185840,11 @@ name: giant axonal neuropathy 1 def: "Giant axonal neuropathy (GAN) is a degenerative disorder that is characterised by a progressive motor and sensitive peripheral and central nervous system neuropathy." [Orphanet:643] subset: ordo_disease {source="Orphanet:643"} synonym: "gan" EXACT [OMIM:256850, Orphanet:643] +synonym: "GAN giant axonal neuropathy" EXACT [MONDO:design_pattern] synonym: "GAN1" RELATED [MONDO:Lexical, OMIM:256850] synonym: "giant axonal neuropathy 1, autosomal recessive" RELATED [MONDO:Lexical, OMIM:256850] synonym: "giant axonal neuropathy 1, autosomal recessive; GAN1" RELATED [OMIM:256850] +synonym: "giant axonal neuropathy caused by mutation in GAN" EXACT [MONDO:design_pattern] synonym: "giant axonal neuropathy type 1" EXACT [DOID:0090068, MONDORULE:1] synonym: "neuropathy, giant axonal" RELATED [GARD:0006500] xref: DOID:0090068 {source="MONDO:equivalentTo"} @@ -184250,7 +185987,7 @@ xref: UMLS:C0220756 {source="OMIM:257220"} xref: UMLS:C0268247 {source="OMIM:257220"} xref: UMLS:C1850363 {source="OMIM:257220"} xref: UMLS:C3179455 {source="NCBI:mim2gene_medline", source="NCIT:C126864", source="OMIM:257220", source="MONDO:equivalentTo"} -is_a: MONDO:0001982 {source="DOID:0070113", source="linkedlife"} ! Niemann-Pick disease +is_a: MONDO:0001982 {source="DOID:0070113", source="NCIT:C126864/inferred", source="linkedlifedata"} ! Niemann-Pick disease is_a: MONDO:0018982 {source="MONDOLEX:0009757"} ! Niemann-Pick disease type C relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7897 {source="mim2gene_medgen"} ! NPC1 property_value: confidence "0.8364197530864197" xsd:double @@ -184261,9 +185998,11 @@ name: congenital stationary night blindness 1B def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GRM6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive complete congenital stationary night blindness" EXACT [DOID:0110865] synonym: "congenital stationary night blindness 1B autosomal recessive" EXACT [DOID:0110865] +synonym: "congenital stationary night blindness caused by mutation in GRM6" EXACT [MONDO:design_pattern] synonym: "congenital stationary night blindness type 1B" EXACT [DOID:0110865, MONDORULE:4] synonym: "CSNB, complete, autosomal recessive" RELATED [OMIM:257270] synonym: "CSNB1B" EXACT [DOID:0110865, MONDO:Lexical, OMIM:257270] +synonym: "GRM6 congenital stationary night blindness" EXACT [MONDO:design_pattern] synonym: "night blindness, congenital stationary, complete, autosomal recessive" RELATED [OMIM:257270] synonym: "night blindness, congenital stationary, type 1B" RELATED [MONDO:Lexical, OMIM:257270] synonym: "night blindness, congenital stationary, type 1B; CSNB1B" RELATED [OMIM:257270] @@ -184279,8 +186018,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/45 id: MONDO:0009759 name: mosaic variegated aneuploidy syndrome 1 def: "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the BUB1B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BUB1B mosaic variegated aneuploidy syndrome" EXACT [MONDO:design_pattern] synonym: "mosaic variegated aneuploidy syndrome 1" EXACT [MONDO:Lexical, OMIM:257300] synonym: "MOSAIC variegated aneuploidy syndrome 1; MVA1" RELATED [OMIM:257300] +synonym: "mosaic variegated aneuploidy syndrome caused by mutation in BUB1B" EXACT [MONDO:design_pattern] synonym: "Mosaic variegated aneuploidy syndrome type 1" EXACT [MONDORULE:1, OMIM:257300] synonym: "mosaic variegated aneuploidy syndrome type 1" EXACT [DOID:0080141, MONDORULE:1] synonym: "MVA syndrome" RELATED [OMIM:257300] @@ -184320,7 +186061,7 @@ xref: UMLS:C0796089 {source="DOID:0060902", source="NCBI:mim2gene_medline", sour is_a: MONDO:0015204 {source="MONDOLEX:0009760", source="Orphanet:89844"} ! microlissencephaly is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:89844", source="Orphanet:89844/inferred"} ! genetic vascular anomaly is_a: MONDO:0018722 {source="Orphanet:89844"} ! primary lymphedema with associated anomalies -is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:257320", source="Orphanet:89844/inferred", source="linkedlifedata"} ! lissencephaly (disease) +is_a: MONDO:0018838 {source="DOID:0060902", source="MONDO:Redundant", source="OMIM:257320", source="Orphanet:89844/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lissencephaly (disease) is_a: MONDO:0019520 {source="MONDO:Entailed", source="Orphanet:89844"} ! syndromic lymphedema relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9957 {source="mim2gene_medgen"} ! RELN property_value: confidence "33.999999999999964" xsd:double @@ -184423,7 +186164,7 @@ xref: Orphanet:2720 {source="OMIM:257790"} xref: SCTID:716174001 {source="MONDO:kboom-pr-1.00/0.80/9.85", source="MONDO:equivalentTo"} xref: UMLS:C1850340 {source="NCBI:mim2gene_medline"} xref: UMLS:C2931646 {source="OMIM:257790", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease [Term] id: MONDO:0009767 @@ -184453,12 +186194,13 @@ property_value: confidence "7.0" xsd:double id: MONDO:0009768 name: oculodentodigital dysplasia, autosomal recessive def: "Autosomal recessive form of oculodentodigital dysplasia." [MONDO:patterns/autosomal_recessive] +synonym: "autosomal recessive oculodentodigital dysplasia" EXACT [MONDO:design_pattern] synonym: "oculodentodigital dysplasia, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:257850] -synonym: "Oculodentoosseous dysplasia recessive" RELATED [GARD:0004045] -synonym: "Oculodentoosseous dysplasia, autosomal recessive" RELATED [OMIM:257850] -synonym: "Oddd, autosomal recessive" RELATED [OMIM:257850] +synonym: "oculodentoosseous dysplasia recessive" RELATED [GARD:0004045] +synonym: "oculodentoosseous dysplasia, autosomal recessive" RELATED [OMIM:257850] +synonym: "ODDD, autosomal recessive" RELATED [OMIM:257850] synonym: "ODOD recessive" RELATED [GARD:0004045] -synonym: "Odod, autosomal recessive" RELATED [OMIM:257850] +synonym: "ODOD, autosomal recessive" RELATED [OMIM:257850] xref: GARD:0004045 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: MESH:C567605 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:257850 {source="MONDO:equivalentTo"} @@ -184476,8 +186218,8 @@ name: oculo-palato-cerebral syndrome def: "Oculopalatocerebral syndrome is characterised by the association of four anomalies: intellectual deficit, microcephaly, palate anomalies and ocular abnormalities." [Orphanet:2714] subset: ordo_malformation_syndrome {source="Orphanet:2714"} synonym: "oculo-palato-cerebral dwarfism" EXACT [Orphanet:2714] -synonym: "Oculopalatocerebral dwarfism" RELATED [OMIM:257910] -synonym: "OCULOPALATOCEREBRAL syndrome" RELATED [OMIM:257910] +synonym: "oculopalatocerebral dwarfism" RELATED [OMIM:257910] +synonym: "oculopalatocerebral syndrome" RELATED [OMIM:257910] synonym: "OPC dwarfism" RELATED [OMIM:257910] xref: ICD10:Q87.1 {source="ORDO:2714/attributed", source="Orphanet:2714", source="ORDO:2714/ntbt"} xref: MESH:C564935 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -184497,13 +186239,15 @@ name: 3MC syndrome 1 def: "Any 3MC syndrome in which the cause of the disease is a mutation in the MASP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "3MC syndrome 1" EXACT [MONDO:Lexical, OMIM:257920] synonym: "3MC syndrome 1; 3MC1" RELATED [OMIM:257920] +synonym: "3MC syndrome caused by mutation in MASP1" EXACT [MONDO:design_pattern] synonym: "3MC syndrome type 1" EXACT [DOID:0060575, MONDORULE:1] synonym: "3Mc syndrome type 1" EXACT [MONDORULE:1, OMIM:257920] synonym: "3MC1" RELATED [MONDO:Lexical, OMIM:257920] synonym: "craniosynostosis with 51D anomalies" RELATED [OMIM:257920] +synonym: "MASP1 3MC syndrome" EXACT [MONDO:design_pattern] synonym: "Michels syndrome" RELATED [OMIM:257920] synonym: "Michels syndrome, formerly" RELATED [OMIM:257920] -synonym: "Oculopalatoskeletal syndrome" RELATED [OMIM:257920] +synonym: "oculopalatoskeletal syndrome" RELATED [OMIM:257920] xref: DOID:0060575 {source="MONDO:equivalentTo"} xref: EFO:1001978 {source="MONDO:equivalentTo"} xref: OMIM:257920 {source="DOID:0060575", source="MONDO:equivalentTo"} @@ -184518,29 +186262,29 @@ property_value: confidence "4.999999999999999" xsd:double [Term] id: MONDO:0009771 -name: Oculotrichodysplasia +name: oculotrichodysplasia def: "Oculotrichodysplasia is characterised by retinitis pigmentosa, trichodysplasia, dental anomalies, and onychodysplasia. It has been described in two siblings (brother and sister) born to first cousin parents. Transmission appears to be autosomal recessive." [Orphanet:2718] subset: ordo_malformation_syndrome {source="Orphanet:2718"} synonym: "Cecato de Lima-Pinheiro syndrome" EXACT [Orphanet:2718] -synonym: "Oculotrichodysplasia" EXACT [MONDO:Lexical, OMIM:257960] -synonym: "OCULOTRICHODYSPLASIA; OTD" RELATED [OMIM:257960] +synonym: "oculotrichodysplasia" EXACT [MONDO:Lexical, OMIM:257960] +synonym: "oculotrichodysplasia; OTD" RELATED [OMIM:257960] synonym: "OTD" RELATED [MONDO:Lexical, OMIM:257960] xref: MESH:C564934 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:257960 {source="ORDO:2718/e", source="Orphanet:2718", source="MONDO:equivalentTo"} xref: Orphanet:2718 {source="OMIM:257960", source="MONDO:equivalentTo"} xref: SCTID:722062004 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C1850332 {source="Orphanet:2718", source="NCBI:mim2gene_medline", source="OMIM:257960", source="MONDO:equivalentTo"} -is_a: MONDO:0019287 {source="Orphanet:2718", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="Orphanet:2718", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0020240 {source="Orphanet:2718"} ! syndromic retinitis pigmentosa property_value: confidence "8.375" xsd:double [Term] id: MONDO:0009772 -name: Oculorenocerebellar syndrome +name: oculorenocerebellar syndrome subset: gard_rare {source="GARD:0004050"} synonym: "absence of the cerebellar granular layer, mental retardation, tapetoretinal degeneration and progressive glomerulopathy" RELATED [GARD:0004050] -synonym: "Oculorenocerebellar syndrome" EXACT [OMIM:257970] -synonym: "Orc syndrome" RELATED [OMIM:257970] +synonym: "oculorenocerebellar syndrome" EXACT [OMIM:257970] +synonym: "ORC syndrome" RELATED [OMIM:257970] xref: GARD:0004050 {source="MONDO:equivalentTo"} xref: MESH:C537739 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:257970 {source="MONDO:equivalentTo"} @@ -184554,8 +186298,8 @@ id: MONDO:0009773 name: odonto-onycho-dermal dysplasia def: "Odonto-onycho-dermal dysplasia is a form of ectodermal dysplasia characterised by hyperkeratosis and hyperhidrosis of the palms and soles, atrophic malar patches, hypodontia, conical teeth, onychodysplasia, and dry and sparse hair." [Orphanet:2721] subset: ordo_disease {source="Orphanet:2721"} -synonym: "ODONTOONYCHODERMAL dysplasia" RELATED [MONDO:Lexical, OMIM:257980] -synonym: "ODONTOONYCHODERMAL dysplasia; OODD" RELATED [OMIM:257980] +synonym: "odontoonychodermal dysplasia" RELATED [MONDO:Lexical, OMIM:257980] +synonym: "odontoonychodermal dysplasia; OODD" RELATED [OMIM:257980] synonym: "OODD" EXACT [MONDO:Lexical, OMIM:257980, Orphanet:2721] xref: GARD:0004054 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:Q82.4 {source="ORDO:2721/attributed", source="ORDO:2721/ntbt", source="Orphanet:2721"} @@ -184567,7 +186311,7 @@ xref: UMLS:C0796093 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c xref: UMLS:C1275074 {source="ORDO:2721/e", source="Orphanet:2721"} is_a: MONDO:0015336 {source="Orphanet:2721"} ! malformation syndrome with odontal and/or periodontal component is_a: MONDO:0017671 {source="Orphanet:2721"} ! autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature -is_a: MONDO:0019287 {source="MESH:C537742", source="Orphanet:2721", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MESH:C537742", source="Orphanet:2721", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13829 {source="mim2gene_medgen"} ! WNT10A property_value: confidence "3.7222222222222223" xsd:double @@ -184611,17 +186355,19 @@ synonym: "congenital stationary night blindness Oguchi type 1" EXACT [DOID:01107 synonym: "CSNBO1" EXACT [DOID:0110712] synonym: "night blindness, congenital stationary, Oguchi type 1" RELATED [OMIM:258100] synonym: "Oguchi disease 1" RELATED [OMIM:258100] +synonym: "Oguchi disease caused by mutation in SAG" EXACT [MONDO:design_pattern] synonym: "Oguchi disease type 1" EXACT [MONDORULE:1, OMIM:258100] +synonym: "SAG Oguchi disease" EXACT [MONDO:design_pattern] xref: DOID:0110712 {source="MONDO:equivalentTo"} xref: OMIM:258100 {source="DOID:0110712", source="MONDO:equivalentTo"} xref: Orphanet:75382 {source="MONDO:subClassOf", source="OMIM:258100"} xref: UMLS:C1306122 {source="NCBI:mim2gene_medline", source="OMIM:258100"} -is_a: MONDO:0004587 {source="DOID:0110712"} ! hereditary night blindness is_a: MONDO:0016293 {source="DC-OMIM:258100", source="MONDOLEX:0009775", source="OMIM:258100"} ! congenital stationary night blindness is_a: MONDO:0019152 {source="MONDO:Entailed"} ! Oguchi disease intersection_of: MONDO:0019152 ! Oguchi disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10521 ! SAG relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10521 {source="mim2gene_medgen"} ! SAG +relationship: excluded_subClassOf MONDO:0004587 {source="DOID:0110712"} ! hereditary night blindness property_value: confidence "0.6666666666666661" xsd:double [Term] @@ -184666,9 +186412,9 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4069/oliver-s [Term] id: MONDO:0009778 -name: olivopontocerebellar atrophy Ii, autosomal recessive -synonym: "olivopontocerebellar atrophy Ii, autosomal recessive" EXACT [OMIM:258300] -synonym: "OPCA Ii, Fickler-Winkler type" RELATED [OMIM:258300] +name: olivopontocerebellar atrophy II, autosomal recessive +synonym: "olivopontocerebellar atrophy II, autosomal recessive" EXACT [OMIM:258300] +synonym: "OPCA II, Fickler-Winkler type" RELATED [OMIM:258300] xref: MESH:C564930 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:258300 {source="MONDO:equivalentTo"} xref: UMLS:C1850319 {source="NCBI:mim2gene_medline", source="OMIM:258300", source="MONDO:equivalentTo"} @@ -184756,8 +186502,10 @@ name: progressive external ophthalmoplegia with mitochondrial DNA deletions, aut def: "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." [MONDO:patterns/disease_series_by_gene] synonym: "arPEO" RELATED [GARD:0001191] synonym: "autosomal recessive progressive external ophthalmoplegia" RELATED [GARD:0001191] +synonym: "autosomal recessive progressive external ophthalmoplegia caused by mutation in POLG" EXACT [MONDO:design_pattern] synonym: "cerebellar ataxia infantile with progressive external ophthalmoplegia" RELATED [GARD:0001191] synonym: "PEOB1" RELATED [MONDO:Lexical, OMIM:258450] +synonym: "POLG autosomal recessive progressive external ophthalmoplegia" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with cerebellar ataxia infantile" RELATED [GARD:0001191] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1" EXACT [MONDO:Lexical, OMIM:258450] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 1; PEOB1" RELATED [OMIM:258450] @@ -184828,6 +186576,7 @@ name: 3-methylglutaconic aciduria type 3 def: "3-methylglutaconic aciduria type III (MGA III) is an organic aciduria characterised by the association of optic atrophy and choreoathetosis with 3-methylglutaconic aciduria." [Orphanet:67047] subset: ordo_disease {source="Orphanet:67047"} synonym: "3-alpha methylglutaconic aciduria type III" RELATED [GARD:0005663] +synonym: "3-methylglutaconic aciduria caused by mutation in OPA3" EXACT [MONDO:design_pattern] synonym: "3-methylglutaconic aciduria type III" EXACT [DOID:0110004] synonym: "3-Methylglutaconic aciduria, type 3" RELATED [OMIM:258501] synonym: "3-METHYLGLUTACONIC aciduria, type III" RELATED [MONDO:Lexical, OMIM:258501] @@ -184844,6 +186593,7 @@ synonym: "MGA type III" RELATED [GARD:0005663] synonym: "Mga, type 3" RELATED [OMIM:258501] synonym: "MGA3" EXACT [DOID:0110004, Orphanet:67047] synonym: "MGCA3" RELATED [MONDO:Lexical, OMIM:258501] +synonym: "OPA3 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern] synonym: "OPA3 defect" RELATED [GARD:0005663] synonym: "Opa3, autosomal recessive" RELATED [OMIM:258501] synonym: "optic atrophy 3, autosomal recessive" RELATED [OMIM:258501] @@ -184961,7 +186711,7 @@ xref: OMIM:258850 {source="DOID:0060373", source="Orphanet:2752", source="ORDO:2 xref: Orphanet:2752 {source="DOID:0060373", source="OMIM:258850", source="MONDO:equivalentTo"} xref: SCTID:239030004 {source="DOID:0060373", source="MONDO:equivalentTo"} xref: UMLS:C0406726 {source="NCBI:mim2gene_medline", source="DOID:0060373", source="Orphanet:2752", source="OMIM:258850", source="ORDO:2752/e"} -is_a: MONDO:0015375 {source="DC-OMIM:258850", source="DOID:0060373", source="MESH:C557817", source="Orphanet:2752"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DC-OMIM:258850", source="DOID:0060373", source="MESH:C557817", source="Orphanet:2752", source="linkedlifedata"} ! orofaciodigital syndrome is_a: MONDO:0015983 {source="Orphanet:2752"} ! rare genetic syndromic intellectual disability is_a: MONDO:0019589 {source="Orphanet:2752"} ! syndromic genetic deafness property_value: confidence "0.6000000000000001" xsd:double @@ -185000,7 +186750,7 @@ xref: OMIM:258860 {source="DOID:0060374", source="Orphanet:2753", source="ORDO:2 xref: Orphanet:2753 {source="DOID:0060374", source="OMIM:258860", source="MONDO:equivalentTo"} xref: SCTID:239031000 {source="DOID:0060374", source="MONDO:equivalentTo"} xref: UMLS:C0406727 {source="NCBI:mim2gene_medline", source="DOID:0060374", source="OMIM:258860", source="Orphanet:2753", source="ORDO:2753/e", source="MONDO:equivalentTo"} -is_a: MONDO:0015375 {source="DC-OMIM:258860", source="DOID:0060374", source="MESH:C537133", source="Orphanet:2753"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="DC-OMIM:258860", source="DOID:0060374", source="MESH:C537133", source="Orphanet:2753", source="linkedlifedata"} ! orofaciodigital syndrome is_a: MONDO:0015510 {source="MONDO:Entailed"} ! rare genetic respiratory disease is_a: MONDO:0015929 {source="Orphanet:2753"} ! thoracic malformation is_a: MONDO:0015983 {source="Orphanet:2753"} ! rare genetic syndromic intellectual disability @@ -185141,7 +186891,7 @@ xref: UMLS:C0220987 {source="ORDO:30/e", source="Orphanet:30"} xref: UMLS:C0268128 {source="NCBI:mim2gene_medline"} xref: UMLS:C0268130 {source="OMIM:258900", source="ORDO:30/e", source="Orphanet:30"} xref: UMLS:C3278622 {source="OMIM:258900"} -is_a: MONDO:0019052 {source="NCIT:C98944", source="Orphanet:30/inferred"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:0050833/inferred", source="NCIT:C98944", source="Orphanet:30/inferred"} ! inborn errors of metabolism is_a: MONDO:0019238 {source="DOID:0050833", source="Orphanet:30"} ! inborn disorder of pyrimidine metabolism is_a: MONDO:0020112 {source="Orphanet:30"} ! vitamin B12- and folate-independent constitutional megaloblastic anemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12563 {source="mim2gene_medgen"} ! UMPS @@ -185302,11 +187052,13 @@ synonym: "OI 9" RELATED [GARD:0010619] synonym: "OI type IX" RELATED [GARD:0010619] synonym: "OI, type 9" RELATED [OMIM:259440] synonym: "OI9" EXACT [DOID:0110349, MONDO:Lexical, OMIM:259440] +synonym: "osteogenesis imperfecta caused by mutation in PPIB" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta sillence type II/III without abnormality of type I collagen" RELATED [GARD:0010619] synonym: "osteogenesis imperfecta type IX" EXACT [DOID:0110349] synonym: "osteogenesis imperfecta, type 9" RELATED [OMIM:259440] synonym: "osteogenesis imperfecta, type IX" RELATED [MONDO:Lexical, OMIM:259440] synonym: "osteogenesis imperfecta, type IX; OI9" RELATED [OMIM:259440] +synonym: "PPIB osteogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110349 {source="MONDO:equivalentTo"} xref: GARD:0010619 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:Q78.0 {source="DOID:0110349", source="MONDO:subClassOf"} @@ -185329,7 +187081,9 @@ synonym: "arthrogryposis-Like disorder" EXACT [OMIM:259450] synonym: "BRKS1" RELATED [MONDO:Lexical, OMIM:259450] synonym: "Bruck syndrome 1" EXACT [MONDO:Lexical, OMIM:259450] synonym: "Bruck syndrome 1; BRKS1" RELATED [OMIM:259450] +synonym: "Bruck syndrome caused by mutation in FKBP10" EXACT [MONDO:design_pattern] synonym: "Bruck syndrome type 1" EXACT [MONDORULE:1, OMIM:259450] +synonym: "FKBP10 Bruck syndrome" EXACT [MONDO:design_pattern] synonym: "Kuskokwim disease" RELATED [OMIM:259450] xref: GARD:0001029 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:259450 {source="MONDO:equivalentTo"} @@ -185352,6 +187106,7 @@ synonym: "osteosarcoma" EXACT [MONDO:ambiguous, NCIT:C9145] synonym: "osteosarcoma" RELATED [OMIM:259500] synonym: "osteosarcoma, malignant" EXACT [NCIT:C9145] synonym: "sarcoma of osteoid" EXACT [MONDO:patterns/sarcoma] +synonym: "Skeletal sarcoma" EXACT [DOID:3347] xref: DOID:3347 {source="EFO:0000637", source="MONDO:equivalentTo"} xref: EFO:0000637 {source="MONDO:equivalentTo"} xref: HP:0002669 {source="MONDO:otherHierarchy", source="ontobio"} @@ -185366,8 +187121,6 @@ xref: SCTID:408387006 {source="DOID:3347"} xref: UMLS:C0029463 {source="NCIT:C9145"} xref: UMLS:C0206639 {source="DOID:3347"} is_a: MONDO:0005089 {source="DOID:3347", source="EFO:0000637", source="MONDO:Entailed", source="NCIT:C9145"} ! sarcoma -intersection_of: MONDO:0005089 ! sarcoma -intersection_of: disease_has_location UBERON:0008883 ! osteoid [Term] id: MONDO:0009808 @@ -185381,8 +187134,8 @@ xref: NCIT:C3297 {source="MONDO:equivalentTo"} xref: OMIM:259550 {source="MONDO:equivalentTo"} xref: SCTID:302859004 {source="MONDO:kboom-pr-1.00/0.84/14.45", source="MONDO:equivalentTo"} xref: UMLS:C0029441 {source="NCBI:mim2gene_medline", source="NCIT:C3297", source="OMIM:259550", source="MONDO:equivalentTo"} -is_a: MONDO:0000631 {source="NCIT:C3297", source="linkedlifedata"} ! bone benign neoplasm -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0000631 {source="NCIT:C3297", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone benign neoplasm +is_a: MONDO:0045052 {source="NCIT:C3297"} ! benign osteogenic neoplasm [Term] id: MONDO:0009809 @@ -185475,7 +187228,7 @@ xref: OMIM:259680 {source="Orphanet:324964", source="MONDO:equivalentTo", source xref: Orphanet:324964 {source="OMIM:259680", source="DOID:0060645", source="MONDO:equivalentTo"} xref: SCTID:240151005 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0410422 {source="NCBI:mim2gene_medline", source="Orphanet:324964", source="OMIM:259680", source="MEDGEN:kboom-pr98-c99", source="NCIT:C119042", source="MONDO:equivalentTo"} -is_a: MONDO:0005246 {source="DOID:0060645", source="MESH:C535456", source="NCIT:C119042", source="linkedlifedata"} ! osteomyelitis (disease) +is_a: MONDO:0005246 {source="DOID:0060645", source="MESH:C535456", source="NCIT:C119042", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteomyelitis (disease) is_a: MONDO:0017370 {source="Orphanet:324964"} ! autoinflammatory syndrome with skin involvement is_a: MONDO:0017954 {source="Orphanet:324964"} ! pyogenic autoinflammatory syndrome property_value: confidence "4.277777777777778" xsd:double @@ -185505,6 +187258,7 @@ def: "Osteopetrosis refers to a group of rare, inherited skeletal disorders char subset: gard_rare {source="GARD:0002579"} synonym: "Albers-Schonberg disease, autosomal recessive" RELATED [OMIM:259700] synonym: "autosomal recessive Albers-Schonberg disease" EXACT [DOID:0110942] +synonym: "autosomal recessive malignant osteopetrosis caused by mutation in TCIRG1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive osteopetrosis type 1" EXACT [DOID:0110942, MONDORULE:1] synonym: "infantile malignant osteopetrosis 1" EXACT [DOID:0110942] synonym: "marble bones autosomal recessive" RELATED [GARD:0002579] @@ -185516,13 +187270,14 @@ synonym: "osteopetrosis, autosomal recessive 1" RELATED [MONDO:Lexical, OMIM:259 synonym: "osteopetrosis, autosomal recessive 1; OPTB1" RELATED [OMIM:259700] synonym: "osteopetrosis, autosomal recessive type 1" EXACT [MONDORULE:1, OMIM:259700] synonym: "osteopetrosis, infantile malignant 1" RELATED [OMIM:259700] +synonym: "TCIRG1 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] xref: DOID:0110942 {source="MONDO:equivalentTo"} xref: GARD:0002579 {source="MONDO:equivalentTo"} xref: MESH:C564915 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:259700 {source="DOID:0110942", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="MONDO:subClassOf", source="OMIM:259700"} xref: UMLS:C1850127 {source="NCBI:mim2gene_medline", source="OMIM:259700"} -is_a: MONDO:0017198 {source="MONDO:0009815/inferred", source="MONDO:Redundant", source="MONDOLEX:0009815/inferred", source="OMIM:259700"} ! osteopetrosis (disease) +is_a: MONDO:0017198 {source="DOID:0110942", source="MONDO:0009815/inferred", source="MONDO:Redundant", source="MONDOLEX:0009815/inferred", source="OMIM:259700"} ! osteopetrosis (disease) is_a: MONDO:0019026 {source="MONDOLEX:0009815", source="ORDO:667/btnt"} ! autosomal recessive malignant osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive malignant osteopetrosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11647 ! TCIRG1 @@ -185535,6 +187290,7 @@ id: MONDO:0009816 name: autosomal recessive osteopetrosis 2 def: "Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly,ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may includefractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures ,and life-threatening pancytopenia . In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by mutations in at least 10 genes . Inheritance can be autosomal recessive , autosomal dominant , or X-linked recessive with the most severe forms being autosomal recessive. Management depends on the specific symptoms and severity and may include vitamin D supplements, various medications, and/or surgery. adult osteopetrosis requires no treatment by itself, but complications may require intervention." [https://rarediseases.info.nih.gov/diseases/4157/osteopetrosis-autosomal-recessive-2] subset: gard_rare {source="GARD:0004157"} +synonym: "autosomal recessive malignant osteopetrosis caused by mutation in TNFSF11" EXACT [MONDO:design_pattern] synonym: "autosomal recessive osteopetrosis type 2" EXACT [DOID:0110943, MONDORULE:1] synonym: "mild autosomal recessive form osteopetrosis" EXACT [DOID:0110943] synonym: "OPTB2" EXACT [DOID:0110943, MONDO:Lexical, OMIM:259710] @@ -185546,13 +187302,14 @@ synonym: "osteopetrosis, autosomal recessive 2; OPTB2" RELATED [OMIM:259710] synonym: "osteopetrosis, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:259710] synonym: "osteopetrosis, mild autosomal recessive form" RELATED [OMIM:259710] synonym: "osteopetrosis, osteoclast-poor" RELATED [OMIM:259710] +synonym: "TNFSF11 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] xref: DOID:0110943 {source="MONDO:equivalentTo"} xref: GARD:0004157 {source="MONDO:equivalentTo"} xref: MESH:C536059 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:259710 {source="DOID:0110943", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="MONDO:subClassOf", source="OMIM:259710"} xref: UMLS:C1850126 {source="NCBI:mim2gene_medline", source="OMIM:259710"} -is_a: MONDO:0017198 {source="MONDO:Redundant", source="OMIM:259710"} ! osteopetrosis (disease) +is_a: MONDO:0017198 {source="DOID:0110943", source="MONDO:Redundant", source="OMIM:259710"} ! osteopetrosis (disease) is_a: MONDO:0019026 {source="ORDO:667/btnt"} ! autosomal recessive malignant osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive malignant osteopetrosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11926 ! TNFSF11 @@ -185581,7 +187338,7 @@ xref: OMIM:259720 {source="DOID:0110939", source="MONDO:equivalentTo"} xref: Orphanet:85179 {source="MONDO:subClassOf", source="OMIM:259720"} xref: UMLS:C1968603 {source="NCBI:mim2gene_medline", source="OMIM:259720"} is_a: MONDO:0010866 ! infantile osteopetrosis with neuroaxonal dysplasia -is_a: MONDO:0017198 {source="MONDO:Redundant", source="OMIM:259720"} ! osteopetrosis (disease) +is_a: MONDO:0017198 {source="DOID:0110939", source="MONDO:Redundant", source="OMIM:259720"} ! osteopetrosis (disease) intersection_of: MONDO:0017198 ! osteopetrosis (disease) intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21652 ! OSTM1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21652 {source="mim2gene_medgen"} ! OSTM1 @@ -185725,6 +187482,7 @@ name: primary hyperoxaluria type 1 def: "Primary hyperoxaluria type 1 (PH1) is a rare disorder of glyoxylate metabolism characterized by the accumulation of oxalate due to a deficiency of the peroxisomal hepatic enzyme L-alanine: glyoxylate aminotransferase (AGT). Clinical presentation is variable, ranging from occasional symptomatic nephrolithiasis to nephrocalcinosis and end-stage renal disease with systemic involvement." [Orphanet:93598] subset: gard_rare {source="GARD:0002835"} subset: ordo_clinical_subtype {source="Orphanet:93598"} +synonym: "AGXT primary hyperoxaluria" EXACT [MONDO:design_pattern] synonym: "alanine-glyoxylate aminotransferase deficiency" RELATED [OMIM:259900] synonym: "glycolic aciduria" EXACT [OMIM:259900, Orphanet:93598] synonym: "hepatic AGT deficiency" RELATED [OMIM:259900] @@ -185736,6 +187494,7 @@ synonym: "Oxalosis 1" RELATED [OMIM:259900] synonym: "peroxisomal alanine glyoxylate aminotransferase deficiency" RELATED [GARD:0002835] synonym: "peroxisomal alanine-glyoxylate aminotransferase deficiency" EXACT [Orphanet:93598] synonym: "peroxisomal alanine:glyoxylate aminotransferase deficiency" RELATED [OMIM:259900] +synonym: "primary hyperoxaluria caused by mutation in AGXT" EXACT [MONDO:design_pattern] synonym: "primary hyperoxaluria type I" EXACT [NCIT:C123212] synonym: "serine pyruvate aminotransferase deficiency" RELATED [GARD:0002835] synonym: "serine:pyruvate aminotransferase deficiency" RELATED [OMIM:259900] @@ -185767,12 +187526,14 @@ synonym: "D-glycerate dehydrogenase deficiency" EXACT [Orphanet:93599] synonym: "D-glycerate dehydrogenase deficiency" RELATED [OMIM:260000] synonym: "glyceric aciduria" RELATED [OMIM:260000] synonym: "glyoxylate reductase/hydroxypyruvate reductase deficiency" RELATED [OMIM:260000] +synonym: "GRHPR primary hyperoxaluria" EXACT [MONDO:design_pattern] synonym: "HP2" RELATED [MONDO:Lexical, OMIM:260000] synonym: "hyperoxaluria, primary, type 2" RELATED [OMIM:260000] synonym: "hyperoxaluria, primary, type II" RELATED [MONDO:Lexical, OMIM:260000] synonym: "hyperoxaluria, primary, type II; HP2" RELATED [OMIM:260000] synonym: "L-glyceric aciduria" EXACT [Orphanet:93599] synonym: "Oxalosis 2" RELATED [OMIM:260000] +synonym: "primary hyperoxaluria caused by mutation in GRHPR" EXACT [MONDO:design_pattern] synonym: "primary hyperoxaluria type II" EXACT [NCIT:C123213] xref: GARD:0002836 {source="MONDO:equivalentTo"} xref: ICD10:E74.8 {source="Orphanet:93599", source="ORDO:93599/attributed", source="ORDO:93599/ntbt"} @@ -185811,7 +187572,7 @@ xref: OMIM:260005 {source="ORDO:33572/e", source="Orphanet:33572", source="MONDO xref: Orphanet:33572 {source="OMIM:260005", source="MONDO:equivalentTo"} xref: SCTID:26132002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0268525 {source="NCBI:mim2gene_medline", source="ORDO:33572/e", source="OMIM:260005", source="Orphanet:33572", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0019241 {source="Orphanet:33572"} ! inborn disorder of the gamma-glutamyl cycle +is_a: MONDO:0019241 {source="Orphanet:33572", source="linkedlifedata"} ! inborn disorder of the gamma-glutamyl cycle intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0017168 ! 5-oxoprolinase (ATP-hydrolyzing) activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8149 {source="mim2gene_medgen"} ! OPLAH @@ -185888,7 +187649,7 @@ xref: OMIM:168601 {source="Orphanet:171695", source="MONDO:directSiblingOf", sou xref: OMIM:260300 {source="Orphanet:171695", source="ORDO:171695/e", source="DOID:0060372", source="MONDO:equivalentTo"} xref: Orphanet:171695 {source="OMIM:260300", source="MONDO:equivalentTo"} xref: UMLS:C1850100 {source="NCBI:mim2gene_medline", source="Orphanet:171695", source="MEDGEN:kboom-pr98-c99", source="OMIM:260300", source="MONDO:equivalentTo"} -is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:260300"} ! Parkinson disease +is_a: MONDO:0005180 {source="DOID:0060372/inferred", source="MONDO:Redundant", source="OMIM:260300"} ! Parkinson disease is_a: MONDO:0017279 {source="DOID:0060372", source="MONDOLEX:0009830"} ! young-onset Parkinson disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13586 {source="mim2gene_medgen"} ! FBXO7 property_value: confidence "0.3096492687679333" xsd:double @@ -185909,7 +187670,10 @@ synonym: "malignant neoplasm of the pancreas" EXACT [NCIT:C9005] synonym: "malignant pancreas neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant pancreatic neoplasm" EXACT [NCIT:C9005] synonym: "pancreas cancer" EXACT [MONDO:patterns/location] +synonym: "pancreas neoplasm" EXACT [DOID:1793] synonym: "pancreatic cancer" EXACT [MONDO:DesignPattern] +synonym: "pancreatic neoplasm" EXACT [DOID:1793] +synonym: "pancreatic tumor" EXACT [DOID:1793] xref: DOID:1793 {source="MONDO:equivalentTo"} xref: EFO:1000359 {source="MONDO:equivalentTo"} xref: ICD10:C25.9 {source="MONDO:ICD_NOS"} @@ -186123,8 +187887,8 @@ xref: UMLS:C0205770 {source="Orphanet:2807", source="NCBI:mim2gene_medline", sou xref: UMLS:C0431109 {source="OMIM:260500"} xref: UMLS:C1332963 {source="DOID:2626"} is_a: MONDO:0002363 {source="DOID:2626", source="MONDO:Entailed", source="NCIT:C3698"} ! papilloma -is_a: MONDO:0016717 {source="NCIT:C3698/inferred", source="ONCOTREE:CPP", source="Orphanet:2807", source="linkedlifedata"} ! choroid plexus neoplasm -is_a: MONDO:0044764 {source="NCIT:C3698"} ! benign choroid plexus neoplasm +is_a: MONDO:0016717 {source="NCIT:C3698/inferred", source="ONCOTREE:CPP", source="Orphanet:2807", source="linkedlifedata", source="linkedlifedata/inferred"} ! choroid plexus neoplasm +is_a: MONDO:0044764 {source="NCIT:C3698", source="linkedlifedata"} ! benign choroid plexus neoplasm intersection_of: MONDO:0002363 ! papilloma intersection_of: disease_has_location UBERON:0001886 ! choroid plexus relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11998 {source="mim2gene_medgen"} ! TP53 @@ -186235,8 +187999,10 @@ name: hypomyelinating leukodystrophy 3 def: "Any leukodystrophy in which the cause of the disease is a mutation in the AIMP1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0004266"} subset: ordo_clinical_subtype {source="Orphanet:280293"} +synonym: "AIMP1 leukodystrophy" EXACT [MONDO:design_pattern] synonym: "HLD3" EXACT [DOID:0060790, MONDO:Lexical, OMIM:260600] synonym: "hypomyelinating leukodystrophy type 3" EXACT [DOID:0060790, MONDORULE:1] +synonym: "leukodystrophy caused by mutation in AIMP1" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating 3" RELATED [GARD:0004266] synonym: "leukodystrophy, hypomyelinating, 3" RELATED [MONDO:Lexical, OMIM:260600] synonym: "leukodystrophy, hypomyelinating, 3; HLD3" RELATED [OMIM:260600] @@ -186252,7 +188018,7 @@ xref: Orphanet:280270 {source="OMIM:260600", source="MONDO:subClassOf"} xref: Orphanet:280293 {source="OMIM:260600", source="DOID:0060790", source="MONDO:equivalentTo"} xref: UMLS:C1850053 {source="NCBI:mim2gene_medline", source="OMIM:260600", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} is_a: MONDO:0017226 {source="Orphanet:280293"} ! Pelizaeus-Merzbacher-like disease -is_a: MONDO:0019046 {source="MONDO:Redundant", source="OMIM:260600", source="Orphanet:280293/inferred"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0060790", source="DOID:0060790/inferred", source="MONDO:Redundant", source="OMIM:260600", source="Orphanet:280293/inferred"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10648 ! AIMP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10648 {source="mim2gene_medgen"} ! AIMP1 @@ -186271,7 +188037,7 @@ xref: MESH:C538352 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:260650 {source="MONDO:equivalentTo"} xref: Orphanet:2837 {source="MONDO:equivalentTo", source="OMIM:260650"} xref: UMLS:C1850052 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:260650"} -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0003847 {source="Orphanet:2837/inferred"} ! inherited genetic disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4267/pellagra-like-syndrome xsd:anyURI {source="GARD:0004267"} [Term] @@ -186472,7 +188238,7 @@ xref: OMIM:261100 {source="ORDO:35858/e", source="Orphanet:35858", source="MONDO xref: Orphanet:35858 {source="MONDO:equivalentTo", source="OMIM:261100"} xref: SCTID:360495000 {source="MONDO:kboom-pr-0.92/0.83/0.15", source="MONDO:equivalentTo"} xref: UMLS:C1306856 {source="NCBI:mim2gene_medline", source="NCIT:C131677", source="Orphanet:35858", source="OMIM:261100"} -is_a: MONDO:0001700 {source="DC-OMIM:261100", source="NCIT:C131677", source="linkedlifedata"} ! megaloblastic anemia (disease) +is_a: MONDO:0001700 {source="DC-OMIM:261100", source="NCIT:C131677", source="linkedlifedata", source="linkedlifedata/inferred"} ! megaloblastic anemia (disease) is_a: MONDO:0015179 {source="Orphanet:35858"} ! intestinal disease due to vitamin absorption anomaly is_a: MONDO:0019220 {source="Orphanet:35858"} ! inborn disorder of cobalamin metabolism and transport is_a: MONDO:0019743 {source="Orphanet:35858"} ! nephropathy secondary to a storage or other metabolic disease @@ -186547,7 +188313,7 @@ xref: OMIM:261540 {source="ORDO:709/e", source="Orphanet:709", source="MONDO:equ xref: Orphanet:709 {source="MONDO:equivalentTo", source="OMIM:261540"} xref: SCTID:449817000 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0796012 {source="NCIT:C123436", source="NCBI:mim2gene_medline", source="Orphanet:709", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:261540"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C123436"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0080201", source="MONDO:Redundant", source="NCIT:C123436"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:709"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015218 {source="Orphanet:709"} ! syndromic developmental defect of the eye is_a: MONDO:0017747 {source="Orphanet:709"} ! disorder of fucoglycosan synthesis @@ -186698,10 +188464,10 @@ xref: UMLS:C0085547 {source="DOID:9281", source="OMIM:261600"} xref: UMLS:C0751434 {source="OMIM:261600"} xref: UMLS:C2678416 {source="OMIM:261600"} is_a: MONDO:0004736 {source="DOID:9281", source="MESH:D010661"} ! inherited amino acid metabolic disorder -is_a: MONDO:0006025 {source="linkedlife"} ! autosomal recessive disease +is_a: MONDO:0006025 {source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0016399 {source="Orphanet:716"} ! amino acid or protein metabolism disease with epilepsy -is_a: MONDO:0017306 {source="Orphanet:716"} ! disorder of phenylalanine metabolism -is_a: MONDO:0019052 {source="Orphanet:716/inferred", source="linkedlife"} ! inborn errors of metabolism +is_a: MONDO:0017306 {source="Orphanet:716", source="linkedlifedata/inferred"} ! disorder of phenylalanine metabolism +is_a: MONDO:0019052 {source="DOID:9281/inferred", source="MESH:D010661/inferred", source="NCIT:C81315/inferred", source="Orphanet:716/inferred", source="linkedlifedata"} ! inborn errors of metabolism is_a: MONDO:0019058 {source="Orphanet:716"} ! neurometabolic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8582 {source="mim2gene_medgen"} ! PAH @@ -186711,8 +188477,10 @@ name: dihydropteridine reductase deficiency def: "Dihydropteridine reductase (DHPR) deficiency is a severe form of hyperphenylalaninemia (HPA) due to impaired regeneration of tetrahydrobiopterin (BH4) (see this term), leading to decreased levels of neurotransmitters (dopamine, serotonin) and folate in cerebrospinal fluid, and causing neurological symptoms such as psychomotor delay, hypotonia, seizures, abnormal movements, hypersalivation, and swallowing difficulties." [Orphanet:226] subset: gard_rare {source="GARD:0004319"} subset: ordo_clinical_subtype {source="Orphanet:226"} +synonym: "6,7-dihydropteridine reductase activity disease" EXACT [MONDO:design_pattern] synonym: "DHPR deficiency" RELATED [OMIM:261630] synonym: "dihydropteridine reductase deficiency" EXACT [OMIM:261630] +synonym: "disorder of 6,7-dihydropteridine reductase activity" EXACT [MONDO:design_pattern] synonym: "HPABH4C" RELATED [MONDO:Lexical, OMIM:261630] synonym: "hyperphenylalaninemia due to dihydropteridine reductase deficiency" EXACT [Orphanet:226] synonym: "hyperphenylalaninemia, BH-4-deficient, C" RELATED [GARD:0004319] @@ -186736,7 +188504,7 @@ xref: SCTID:58256000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equ xref: UMLS:C0268465 {source="NCBI:mim2gene_medline", source="OMIM:261630", source="ORDO:226/e", source="Orphanet:226"} xref: UMLS:C2936906 {source="ORDO:226/e", source="Orphanet:226"} is_a: MONDO:0009861 {source="MONDO:Redundant", source="NCIT:C138173", source="OMIM:261630"} ! phenylketonuria -is_a: MONDO:0016543 {source="DC-OMIM:261630", source="MONDOLEX:0009862", source="Orphanet:226"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency +is_a: MONDO:0016543 {source="DC-OMIM:261630", source="MONDOLEX:0009862", source="Orphanet:226", source="linkedlifedata"} ! hyperphenylalaninemia due to tetrahydrobiopterin deficiency intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0004155 ! 6,7-dihydropteridine reductase activity relationship: disease_has_basis_in_disruption_of GO:0046146 ! tetrahydrobiopterin metabolic process @@ -186813,6 +188581,7 @@ name: glycogen storage disease due to phosphoglycerate mutase deficiency def: "A rare, autosomal recessive, inherited disorder caused by mutation of the PGAM2 gene. It is characterized by non-spherocytic hemolytic anemia, exercise-induced cramping, myoglobinuria, and presence of tubular aggregates on muscle biopsy." [NCIT:C131647] subset: ordo_disease {source="Orphanet:97234"} synonym: "glycogen storage disease 10" RELATED [OMIM:261670] +synonym: "glycogen storage disease caused by mutation in PGAM2" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease type 10" EXACT [MONDORULE:2, OMIM:261670] synonym: "glycogen storage disease X" RELATED [MONDO:Lexical, OMIM:261670] synonym: "glycogen storage disease X; GSD10" RELATED [OMIM:261670] @@ -186826,7 +188595,8 @@ synonym: "muscle phosphoglycerate mutase deficiency" EXACT [Orphanet:97234] synonym: "Myopathy due to Phosphoglycerate mutase deficiency" RELATED [OMIM:261670] synonym: "Myopathy due to phosphoglycerate mutase deficiency" EXACT [Orphanet:97234] synonym: "PGAM deficiency" RELATED [GARD:0009964] -synonym: "Pgamm deficiency" RELATED [OMIM:261670] +synonym: "PGAM2 glycogen storage disease" EXACT [MONDO:design_pattern] +synonym: "PGAMM deficiency" RELATED [OMIM:261670] synonym: "Phosphoglycerate mutase deficiency" RELATED [GARD:0009964] synonym: "Phosphoglycerate mutase, muscle, deficiency of" RELATED [OMIM:261670] xref: GARD:0009964 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -186837,10 +188607,11 @@ xref: OMIM:261670 {source="ORDO:97234/e", source="Orphanet:97234", source="MONDO xref: Orphanet:97234 {source="OMIM:261670", source="MONDO:equivalentTo"} xref: SCTID:61772003 {source="MONDO:equivalentTo"} xref: UMLS:C0268149 {source="NCBI:mim2gene_medline", source="Orphanet:97234", source="OMIM:261670"} -is_a: MONDO:0002412 {source="Orphanet:97234"} ! glycogen storage disease +is_a: MONDO:0002412 {source="NCIT:C131647", source="Orphanet:97234"} ! glycogen storage disease is_a: MONDO:0016118 {source="Orphanet:97234"} ! muscular glycogenosis +intersection_of: MONDO:0002412 ! glycogen storage disease +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8889 ! PGAM2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8889 {source="mim2gene_medgen"} ! PGAM2 -property_value: confidence "5.0" xsd:double [Term] id: MONDO:0009866 @@ -186878,10 +188649,12 @@ synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogen storage d synonym: "fatal congenital hypertrophic cardiomyopathy due to glycogenosis" EXACT [DOID:0090101, Orphanet:439854] synonym: "fatal congenital hypertrophic cardiomyopathy due to GSD" EXACT [DOID:0090101, Orphanet:439854] synonym: "fatal congenital nonlysosomal cardiac glycogenosis" EXACT [DOID:0090101] +synonym: "glycogen storage disease caused by mutation in PRKAG2" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease of heart" RELATED [OMIM:261740] synonym: "glycogen storage disease of heart, lethal congenital" RELATED [OMIM:261740] synonym: "phosphorylase kinase deficiency of heart" EXACT [DOID:0090101] synonym: "phosphorylase kinase deficiency of heart" RELATED [OMIM:261740] +synonym: "PRKAG2 glycogen storage disease" EXACT [MONDO:design_pattern] xref: DOID:0090101 {source="MONDO:equivalentTo"} xref: GARD:0010728 {source="MONDO:equivalentTo"} xref: ICD10:E74.0+ {source="DOID:0090101", source="ORDO:439854/ntbt", source="Orphanet:439854", source="ORDO:439854/attributed"} @@ -186890,7 +188663,7 @@ xref: MESH:C564888 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:261740 {source="DOID:0090101", source="ORDO:439854/e", source="Orphanet:439854", source="MONDO:equivalentTo"} xref: Orphanet:439854 {source="DOID:0090101", source="MONDO:equivalentTo"} xref: UMLS:C1849813 {source="NCBI:mim2gene_medline", source="OMIM:261740", source="Orphanet:439854", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} -is_a: MONDO:0002412 {source="DC-OMIM:261740", source="DOID:0090101", source="MESH:C564888", source="MONDO:Entailed", source="Orphanet:439854"} ! glycogen storage disease +is_a: MONDO:0002412 {source="DC-OMIM:261740", source="DOID:0090101", source="DOID:0090101/inferred", source="MESH:C564888", source="MONDO:Entailed", source="Orphanet:439854"} ! glycogen storage disease is_a: MONDO:0016325 {source="Orphanet:439854"} ! glycogen storage disease with hypertrophic cardiomyopathy intersection_of: MONDO:0002412 ! glycogen storage disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9386 ! PRKAG2 @@ -186902,6 +188675,7 @@ id: MONDO:0009868 name: glycogen storage disease IXb def: "Glycogen storage disease (GSD) due to liver and muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism. It is the mildest form of GSD due to PhK deficiency (see this term)." [Orphanet:79240] subset: ordo_disease {source="Orphanet:79240"} +synonym: "glycogen storage disease caused by mutation in PHKB" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to liver and muscle phosphorylase kinase deficiency" RELATED [Orphanet:79240] synonym: "glycogen storage disease IXb" EXACT [MONDO:Lexical, OMIM:261750] synonym: "glycogen storage disease IXb; GSD9B" RELATED [OMIM:261750] @@ -186917,6 +188691,7 @@ synonym: "GSD IXb" RELATED [OMIM:261750] synonym: "GSD type 9B" EXACT [DOID:0111041, Orphanet:79240] synonym: "GSD type IXb" EXACT [DOID:0111041, Orphanet:79240] synonym: "GSD9B" EXACT [DOID:0111041, MONDO:Lexical, OMIM:261750] +synonym: "PHKB glycogen storage disease" EXACT [MONDO:design_pattern] synonym: "phosphorylase kinase deficiency of liver and muscle, autosomal recessive" RELATED [OMIM:261750] xref: DOID:0111041 {source="MONDO:equivalentTo"} xref: ICD10:E74.0 {source="ORDO:79240/attributed", source="ORDO:79240/ntbt", source="MONDO:subClassOf", source="Orphanet:79240", source="DOID:0111041"} @@ -186929,6 +188704,8 @@ is_a: MONDO:0000366 {source="DOID:0111041", source="MONDOLEX:0009868"} ! glycoge is_a: MONDO:0015115 {source="Orphanet:79240"} ! rare metabolic liver disease is_a: MONDO:0016118 {source="Orphanet:79240"} ! muscular glycogenosis is_a: MONDO:0018251 {source="MONDOLEX:0009868", source="Orphanet:79240"} ! glycogen storage disease due to phosphorylase kinase deficiency +intersection_of: MONDO:0002412 {source="mim2gene_medgen"} ! glycogen storage disease +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8927 {source="mim2gene_medgen"} ! PHKB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8927 {source="mim2gene_medgen"} ! PHKB property_value: confidence "116.50000000000041" xsd:double @@ -187092,8 +188869,10 @@ synonym: "ACHM1, formerly" RELATED [OMIM:262300] synonym: "ACHM3" EXACT [DOID:0110008, MONDO:Lexical, OMIM:262300] synonym: "achromatopsia 3" EXACT [MONDO:Lexical, OMIM:262300] synonym: "achromatopsia 3; ACHM3" RELATED [OMIM:262300] +synonym: "achromatopsia caused by mutation in CNGB3" EXACT [MONDO:design_pattern] synonym: "achromatopsia type 3" EXACT [DOID:0110008, MONDORULE:1, OMIM:262300] synonym: "achromatopsia with myopia" RELATED [OMIM:262300] +synonym: "CNGB3 achromatopsia" EXACT [MONDO:design_pattern] synonym: "Pingelapese blindness" EXACT [DOID:0110008] synonym: "Pingelapese blindness" RELATED [OMIM:262300] synonym: "RMCH1" EXACT [DOID:0110008] @@ -187210,6 +188989,7 @@ id: MONDO:0009878 name: pituitary hormone deficiency, combined, 2 def: "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the PROP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ateliotic dwarfism with hypogonadism" RELATED [OMIM:262600] +synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in PROP1" EXACT [MONDO:design_pattern] synonym: "CPHD2" RELATED [MONDO:Lexical, OMIM:262600] synonym: "Hanhart dwarfism" RELATED [OMIM:262600] synonym: "panhypopituitarism" RELATED [OMIM:262600] @@ -187217,6 +188997,7 @@ synonym: "pituitary dwarfism 3" RELATED [OMIM:262600] synonym: "pituitary hormone deficiency, combined, 2" EXACT [MONDO:Lexical, OMIM:262600] synonym: "pituitary hormone deficiency, combined, 2; CPHD2" RELATED [OMIM:262600] synonym: "pituitary hormone deficiency, combined, type 2" EXACT [MONDORULE:1, OMIM:262600] +synonym: "PROP1 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern] xref: OMIM:262600 {source="MONDO:equivalentTo"} xref: Orphanet:90695 {source="MONDO:subClassOf", source="OMIM:262600"} xref: Orphanet:95494 {source="MONDO:subClassOf", source="OMIM:262600"} @@ -187409,7 +189190,7 @@ xref: OMIM:263000 {source="DOID:0050158", source="ORDO:98852/btnt", source="MOND xref: Orphanet:98852 {source="OMIM:263000", source="MONDO:subClassOf", source="MONDO:equivalentTo"} xref: SCTID:8549006 {source="DOID:0050158", source="MONDO:equivalentTo"} xref: UMLS:C0238378 {source="OMIM:263000", source="NCBI:mim2gene_medline", source="NCIT:C35288", source="ORDO:98852/e", source="Orphanet:98852", source="DOID:0050158", source="MONDO:equivalentTo"} -is_a: MONDO:0002429 {source="NCIT:C35288", source="Orphanet:98852"} ! idiopathic interstitial pneumonia +is_a: MONDO:0002429 {source="DOID:0050158", source="NCIT:C35288", source="Orphanet:98852", source="linkedlifedata"} ! idiopathic interstitial pneumonia [Term] id: MONDO:0009888 @@ -187530,8 +189311,10 @@ synonym: "erythrocytosis, familial, 2" RELATED [MONDO:Lexical, OMIM:263400] synonym: "erythrocytosis, familial, 2; ECYT2" RELATED [OMIM:263400] synonym: "erythrocytosis, familial, type 2" EXACT [MONDORULE:1, OMIM:263400] synonym: "familial erythrocytosis 2" EXACT [DOID:0060474] +synonym: "familial polycythemia caused by mutation in VHL" EXACT [MONDO:design_pattern] synonym: "polycythemia, Chuvash type" RELATED [OMIM:263400] synonym: "polycythemia, VHL-dependent" RELATED [OMIM:263400] +synonym: "VHL familial polycythemia" EXACT [MONDO:design_pattern] synonym: "Von Hippel-Lindau-dependent polycythemia" EXACT [Orphanet:238557] xref: DOID:0060474 {source="MONDO:equivalentTo"} xref: ICD10:D75.1 {source="ORDO:238557/attributed", source="DOID:0060474", source="Orphanet:238557", source="ORDO:238557/ntbt"} @@ -187735,7 +189518,7 @@ xref: SCTID:22935002 {source="DOID:13271"} xref: SCTID:67312003 {source="DOID:13271", source="MONDO:kboom-pr-0.89/0.74/0.38", source="MONDO:equivalentTo"} xref: UMLS:C0162530 {source="NCBI:mim2gene_medline", source="DOID:13271", source="OMIM:263700"} xref: UMLS:C2718078 {source="OMIM:263700"} -is_a: MONDO:0019142 {source="DC-OMIM:263700", source="DOID:13271", source="MESH:D017092", source="MONDOLEX:0009902", source="Orphanet:79277"} ! inherited porphyria +is_a: MONDO:0019142 {source="DC-OMIM:263700", source="DOID:13271", source="MESH:D017092", source="MONDOLEX:0009902", source="NCIT:C84697", source="Orphanet:79277"} ! inherited porphyria is_a: MONDO:0020104 {source="Orphanet:79277"} ! rare constitutional hemolytic anemia due to an enzyme disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12592 {source="mim2gene_medgen"} ! UROS property_value: confidence "3.0625" xsd:double @@ -187956,7 +189739,7 @@ xref: MESH:C562894 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:264140 {source="MONDO:equivalentTo"} xref: SCTID:236529001 {source="MONDO:kboom-pr-0.77/0.38/0.72", source="MONDO:equivalentTo"} xref: UMLS:C0403551 {source="NCBI:mim2gene_medline", source="OMIM:264140", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease [Term] id: MONDO:0009914 @@ -188236,7 +190019,7 @@ xref: OMIM:600081 {source="Orphanet:289157", source="ORDO:289157/btnt", source=" xref: Orphanet:289157 {source="OMIM:264700", source="MONDO:equivalentTo"} xref: SCTID:67049004 {source="MONDO:kboom-pr-1.00/0.80/8.64", source="MONDO:equivalentTo"} xref: UMLS:C0268689 {source="NCBI:mim2gene_medline", source="Orphanet:289157", source="MEDGEN:kboom-pr98-c99", source="OMIM:264700", source="MONDO:equivalentTo", source="NCIT:C131073"} -is_a: MONDO:0005520 {source="DC-OMIM:264700", source="MESH:C562688/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! rickets (disease) +is_a: MONDO:0005520 {source="DC-OMIM:264700", source="MESH:C562688/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! rickets (disease) is_a: MONDO:0017323 {source="Orphanet:289157"} ! hypocalcemic rickets is_a: MONDO:0024299 {source="MONDO:cjm", source="MONDOLEX:0009924", source="linkedlifedata"} ! vitamin D-dependent rickets intersection_of: MONDO:0024299 ! vitamin D-dependent rickets @@ -188349,11 +190132,13 @@ name: 3MC syndrome 2 def: "Any 3MC syndrome in which the cause of the disease is a mutation in the COLEC11 gene." [MONDO:patterns/disease_series_by_gene] synonym: "3MC syndrome 2" EXACT [MONDO:Lexical, OMIM:265050] synonym: "3MC syndrome 2; 3MC2" RELATED [OMIM:265050] +synonym: "3MC syndrome caused by mutation in COLEC11" EXACT [MONDO:design_pattern] synonym: "3MC syndrome type 2" EXACT [DOID:0060576, MONDORULE:1] synonym: "3Mc syndrome type 2" EXACT [MONDORULE:1, OMIM:265050] synonym: "3MC2" RELATED [MONDO:Lexical, OMIM:265050] synonym: "Carnevale syndrome" RELATED [OMIM:265050] synonym: "Carnevale syndrome, formerly" RELATED [OMIM:265050] +synonym: "COLEC11 3MC syndrome" EXACT [MONDO:design_pattern] synonym: "oculo-skeletal-abdominal syndrome" RELATED [OMIM:265050] synonym: "Osa syndrome" RELATED [OMIM:265050] synonym: "ptosis of eyelids with diastasis recti and hip dysplasia" RELATED [OMIM:265050] @@ -188390,7 +190175,7 @@ xref: Orphanet:60025 {source="OMIM:265100", source="MONDO:equivalentTo"} xref: SCTID:196160008 {source="DOID:12117"} xref: SCTID:87153008 {source="DOID:12117", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155912 {source="OMIM:265100", source="DOID:12117", source="NCBI:mim2gene_medline", source="ORDO:60025/e", source="Orphanet:60025", source="MONDO:equivalentTo"} -is_a: MONDO:0005275 {source="DOID:12117", source="MESH:C562405", source="linkedlife/inferred"} ! lung disease +is_a: MONDO:0005275 {source="DOID:12117", source="MESH:C562405", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disease is_a: MONDO:0015510 {source="Orphanet:60025"} ! rare genetic respiratory disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11020 {source="mim2gene_medgen"} ! SLC34A2 property_value: confidence "4.277777777777779" xsd:double @@ -188533,6 +190318,8 @@ synonym: "familial persistent pulmonary hypertension of the newborn" RELATED [GA synonym: "fetal circulation" EXACT [DOID:13042, SCTID:204507004] synonym: "persistent fetal circulation" RELATED [DOID:13042, ICD9CM_2006:747.83] synonym: "persistent fetal circulation (disorder)" RELATED [DOID:13042, SCTID:206597007] +synonym: "Persistent fetal circulation syndrome" EXACT [DOID:13042] +synonym: "persistent fetal circulation syndrome" RELATED [DOID:13042] synonym: "persistent fetal circulation syndrome (disorder)" RELATED [DOID:13042, SCTID:35604006] synonym: "persistent pulmonary hypertension of the newborn" RELATED [CSP2005:0723-5955, CSP2005:2595-6954, DOID:13042] synonym: "persistent pulmonary hypertension of the newborn (disorder)" RELATED [DOID:13042, SCTID:233815004] @@ -188670,7 +190457,7 @@ xref: SCTID:89647000 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equ xref: UMLS:C0238402 {source="Orphanet:763", source="NCIT:C131187", source="NCBI:mim2gene_medline", source="ORDO:763/e", source="OMIM:265800", source="MONDO:equivalentTo"} is_a: MONDO:0002561 {source="MESH:D058631", source="Orphanet:763"} ! lysosomal storage disease is_a: MONDO:0005516 {source="DOID:0080038", source="MESH:D058631"} ! osteochondrodysplasia -is_a: MONDO:0017198 {source="Orphanet:763", source="linkedlifedata"} ! osteopetrosis (disease) +is_a: MONDO:0017198 {source="Orphanet:763", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteopetrosis (disease) relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2536 {source="mim2gene_medgen"} ! CTSK relationship: disease_has_feature HP:0003510 ! Severe short stature relationship: disease_has_feature HP:0011002 ! Osteopetrosis @@ -188833,7 +190620,7 @@ xref: OMIM:266140 {source="MONDO:equivalentTo"} xref: Orphanet:98867 {source="OMIM:266140"} xref: SCTID:9434008 {source="MONDO:kboom-pr-0.79/0.41/0.83", source="MONDO:equivalentTo"} xref: UMLS:C0520739 {source="NCBI:mim2gene_medline", source="NCIT:C98943", source="OMIM:266140"} -is_a: MONDO:0003847 {source="MESH:C563004/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C563004/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11272 {source="mim2gene_medgen"} ! SPTA1 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4619/pyropoikilocytosis-hereditary xsd:anyURI {source="GARD:0004619"} @@ -188895,7 +190682,7 @@ xref: UMLS:C0340968 {source="OMIM:266200", source="Orphanet:766", source="MONDO: xref: UMLS:C1849472 {source="NCBI:mim2gene_medline"} is_a: MONDO:0006506 {source="DOID:0111077", source="MESH:C564858"} ! congenital nonspherocytic hemolytic anemia is_a: MONDO:0016789 {source="Orphanet:766"} ! pyruvate metabolism disorder -is_a: MONDO:0019052 {source="NCIT:C99037", source="Orphanet:766/inferred"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="MESH:C564858/inferred", source="NCIT:C99037", source="Orphanet:766/inferred"} ! inborn errors of metabolism is_a: MONDO:0020106 {source="Orphanet:766"} ! hemolytic anemia due to a disorder of glycolytic enzymes relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9020 {source="mim2gene_medgen"} ! PKLR property_value: confidence "17.66666666666667" xsd:double @@ -188944,7 +190731,7 @@ name: leukocyte adhesion deficiency type II def: "Leukocyte adhesion deficiency type II (LAD-II) is a form of LAD (see this term) characterized by recurrent bacterial infections, severe growth delay and severe intellectual deficit." [Orphanet:99843] subset: ordo_clinical_subtype {source="Orphanet:99843"} synonym: "CDG 2C" RELATED [GARD:0004634] -synonym: "CDG Iic" RELATED [OMIM:266265] +synonym: "CDG IIc" RELATED [OMIM:266265] synonym: "CDG syndrome type IIc" EXACT [Orphanet:99843] synonym: "CDG-IIc" EXACT [Orphanet:99843] synonym: "CDG2C" EXACT [Orphanet:99843] @@ -189114,6 +190901,7 @@ id: MONDO:0009959 name: peroxisome biogenesis disorder type 3B def: "A genetic disorder characterized by abnormalities in the breakdown of phytanic acid. It results in accumulation of phytanic acid in the blood, brain and other tissues. Signs and symptoms include retinitis pigmentosa which may lead to blindness, hearing problems and deafness, hypotonia, ataxia, nystagmus, facial deformities, and mental and growth retardation." [NCIT:P378] synonym: "infantile phytanic acid storage disease" EXACT [DOID:0050444] +synonym: "infantile Refsum disease" RELATED [DOID:0050444] synonym: "PBD3B" RELATED [MONDO:Lexical, OMIM:266510] synonym: "peroxisome biogenesis disorder 3B" RELATED [MONDO:Lexical, OMIM:266510] synonym: "peroxisome biogenesis disorder 3B; PBD3B" RELATED [OMIM:266510] @@ -189161,7 +190949,7 @@ xref: UMLS:C0009324 {source="MONDO:directSiblingOf", source="OMIM:266600"} xref: UMLS:C0010346 {source="OMIM:266600"} xref: UMLS:C0678202 {source="NCBI:mim2gene_medline"} xref: UMLS:C2675113 {source="OMIM:266600"} -is_a: MONDO:0005265 {source="MONDO:Entailed", source="OMIM:266600", source="linkedlifedata"} ! inflammatory bowel disease +is_a: MONDO:0005265 {source="DOID:0110892", source="MONDO:Entailed", source="OMIM:266600", source="linkedlifedata"} ! inflammatory bowel disease intersection_of: MONDO:0005265 ! inflammatory bowel disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5331 ! NOD2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6018 ! IL6 @@ -189184,11 +190972,13 @@ name: Senior-Loken syndrome 1 def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "juvenile nephronophthisis with Leber amaurosis" RELATED [OMIM:266900] synonym: "Loken-Senior syndrome" RELATED [OMIM:266900] +synonym: "NPHP1 Senior-Loken syndrome" EXACT [MONDO:design_pattern] synonym: "renal dysplasia and retinal aplasia" RELATED [OMIM:266900] synonym: "renal-retinal syndrome" RELATED [OMIM:266900] synonym: "Senior-Loken syndrome" RELATED [OMIM:266900] synonym: "Senior-Loken syndrome 1" EXACT [MONDO:Lexical, OMIM:266900] synonym: "SENIOR-Loken syndrome 1; SLSN1" RELATED [OMIM:266900] +synonym: "Senior-Loken syndrome caused by mutation in NPHP1" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome type 1" EXACT [MONDORULE:1, OMIM:266900] synonym: "SLSN1" RELATED [MONDO:Lexical, OMIM:266900] xref: ICD9:759.89 {source="i2s", source="MONDO:relatedTo"} @@ -189244,7 +191034,7 @@ xref: Orphanet:140969 {source="MONDO:subClassOf", source="OMIM:266920"} xref: SCTID:254092004 {source="MONDO:kboom-pr-0.69/0.35/0.08", source="MONDO:equivalentTo"} xref: UMLS:C1849437 {source="NCBI:mim2gene_medline", source="OMIM:266920"} is_a: MONDO:0015373 {source="ORDO:140969/btnt"} ! Saldino-Mainzer syndrome -is_a: MONDO:0018770 {source="MONDO:Redundant", source="OMIM:266920"} ! Jeune syndrome +is_a: MONDO:0018770 {source="DOID:0110097", source="MONDO:Redundant", source="OMIM:266920"} ! Jeune syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29077 {source="mim2gene_medgen"} ! IFT140 property_value: confidence "0.7173913043478257" xsd:double @@ -189273,7 +191063,7 @@ xref: OMIM:267000 {source="Orphanet:2849", source="ORDO:2849/e", source="DOID:00 xref: Orphanet:2849 {source="OMIM:267000", source="DOID:0060476", source="MONDO:equivalentTo"} xref: SCTID:722231005 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0796113 {source="NCBI:mim2gene_medline", source="Orphanet:2849", source="NCIT:C103144", source="OMIM:267000", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C103144"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060476", source="MONDO:Redundant", source="NCIT:C103144"} ! syndromic disease is_a: MONDO:0015945 {source="Orphanet:2849"} ! polymalformative genetic syndrome with increased risk of developing cancer is_a: MONDO:0017891 {source="Orphanet:2849"} ! inherited renal cancer-predisposing syndrome is_a: MONDO:0019716 {source="Orphanet:2849"} ! overgrowth syndrome @@ -189360,7 +191150,7 @@ xref: SCTID:236532003 {source="MONDO:kboom-pr-1.00/0.79/7.53", source="MONDO:equ xref: SCTID:722468005 {source="MONDO:equivalentTo"} xref: UMLS:C0403554 {source="OMIM:267300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:C4302514 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0015827 {source="linkedlife"} ! distal renal tubular acidosis (disease) +is_a: MONDO:0015827 {source="linkedlifedata"} ! distal renal tubular acidosis (disease) is_a: MONDO:0018440 {source="MONDOLEX:0009968", source="ORDO:402041/btnt"} ! autosomal recessive distal renal tubular acidosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/853 {source="mim2gene_medgen"} ! ATP6V1B1 relationship: disease_has_feature HP:0000407 ! Sensorineural hearing impairment @@ -189469,7 +191259,7 @@ is_a: MONDO:0001208 {source="DOID:12716"} ! acute respiratory failure is_a: MONDO:0002254 {source="MONDOLEX:0009971", source="NCIT:C27560"} ! syndromic disease is_a: MONDO:0015510 {source="OWLReasoner:2017"} ! rare genetic respiratory disease is_a: MONDO:0017016 {source="Orphanet:70587"} ! primary interstitial lung disease specific to childhood due to alveolar structure disorder -is_a: MONDO:0021113 {source="MONDO:Redundant", source="NCIT:C27560"} ! respiratory failure +is_a: MONDO:0021113 {source="DOID:12716", source="MONDO:Redundant", source="NCIT:C27560"} ! respiratory failure property_value: confidence "2.0000000000000004" xsd:double [Term] @@ -189511,8 +191301,8 @@ xref: Orphanet:33355 {source="MONDO:equivalentTo", source="OMIM:267500"} xref: SCTID:111584000 {source="MONDO:kboom-pr-0.96/0.75/2.51", source="DOID:0060020", source="MONDO:equivalentTo"} xref: UMLS:C0272167 {source="NCBI:mim2gene_medline", source="DOID:0060020", source="MONDO:equivalentTo", source="Orphanet:33355", source="NCIT:C27070", source="OMIM:267500", source="ORDO:33355/e"} xref: UMLS:C1282908 {source="Orphanet:33355", source="ORDO:33355/e"} -is_a: MONDO:0015131 {source="MONDO:Redundant", source="NCIT:C27070", source="Orphanet:33355/inferred"} ! congenital combined immunodeficiency -is_a: MONDO:0015974 {source="DOID:0060020", source="MESH:C538361", source="MONDO:Redundant", source="Orphanet:33355/inferred", source="linkedlifedata"} ! severe combined immunodeficiency (disease) +is_a: MONDO:0015131 {source="DOID:0060020/inferred", source="MONDO:Redundant", source="NCIT:C27070", source="Orphanet:33355/inferred"} ! congenital combined immunodeficiency +is_a: MONDO:0015974 {source="DOID:0060020", source="MESH:C538361", source="MONDO:Redundant", source="Orphanet:33355/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! severe combined immunodeficiency (disease) is_a: MONDO:0017855 {source="Orphanet:33355"} ! T-B- severe combined immunodeficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/362 {source="mim2gene_medgen"} ! AK2 relationship: disease_has_feature HP:0000777 ! Abnormality of the thymus @@ -189557,7 +191347,7 @@ xref: UMLS:C0272199 {source="Orphanet:540", source="NCIT:C61276", source="ORDO:5 xref: UMLS:CN034020 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN205265 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015144 {source="Orphanet:540"} ! brain inflammatory disease -is_a: MONDO:0015540 {source="MONDO:0009974/inferred", source="MONDO:Redundant", source="MONDOLEX:0009974/inferred", source="NCIT:C61276", source="NCIT:C61276/inferred", source="Orphanet:540/inferred"} ! hemophagocytic syndrome +is_a: MONDO:0015540 {source="DOID:0110921", source="MONDO:0009974/inferred", source="MONDO:Redundant", source="MONDOLEX:0009974/inferred", source="NCIT:C61276", source="NCIT:C61276/inferred", source="Orphanet:540/inferred"} ! hemophagocytic syndrome is_a: MONDO:0015541 {source="MONDO:Entailed", source="MONDOLEX:0009974", source="OMIM:267700", source="Orphanet:540"} ! genetic hemophagocytic lymphohistiocytosis property_value: confidence "0.9012301775000005" xsd:double @@ -189658,7 +191448,7 @@ xref: OMIM:267760 {source="Orphanet:1574", source="MONDO:equivalentTo", source=" xref: Orphanet:1574 {source="OMIM:267760", source="MONDO:equivalentTo"} xref: UMLS:C1849408 {source="NCBI:mim2gene_medline"} xref: UMLS:C2931831 {source="OMIM:267760", source="Orphanet:1574", source="MONDO:equivalentTo"} -is_a: MONDO:0019118 {source="Orphanet:1574"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:1574"} ! inherited retinal dystrophy relationship: excluded_subClassOf MONDO:0015217 {source="Orphanet:1574"} ! non-syndromic developmental defect of the eye property_value: confidence "8.6" xsd:double @@ -189826,7 +191616,7 @@ xref: Orphanet:53540 {source="OMIM:268100", source="MONDO:equivalentTo"} xref: SCTID:232065000 {source="MONDO:kboom-pr-1.00/0.80/8.77", source="MONDO:equivalentTo"} xref: UMLS:C0339541 {source="Orphanet:53540", source="OMIM:268100", source="ORDO:53540/e"} xref: UMLS:C1849394 {source="Orphanet:53540", source="NCBI:mim2gene_medline", source="OMIM:268100", source="MONDO:equivalentTo"} -is_a: MONDO:0005283 {source="DOID:0090059", source="MESH:C564835/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! retinal disease +is_a: MONDO:0005283 {source="DOID:0090059", source="MESH:C564835/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinal disease is_a: MONDO:0020244 {source="Orphanet:53540"} ! unclassified primitive or secondary maculopathy is_a: MONDO:0020248 {source="Orphanet:53540"} ! vitreoretinal degeneration relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7974 {source="mim2gene_medgen"} ! NR2E3 @@ -189853,7 +191643,7 @@ xref: OMIM:268130 {source="Orphanet:3088", source="DOID:0070026", source="MONDO: xref: Orphanet:3088 {source="OMIM:268130", source="MONDO:equivalentTo"} xref: UMLS:C1327916 {source="Orphanet:3088", source="NCBI:mim2gene_medline", source="OMIM:268130", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} is_a: MONDO:0015780 {source="DC-OMIM:268130", source="DOID:0070026", source="OMIM:268130"} ! dyskeratosis congenita -is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:3088"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:3088"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11824 {source="mim2gene_medgen"} ! TINF2 property_value: confidence "8.375" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4695/revesz-syndrome xsd:anyURI {source="GARD:0004695"} @@ -190267,10 +192057,10 @@ xref: UMLS:C0036161 {source="Orphanet:796", source="ORDO:796/e", source="NCBI:mi xref: UMLS:C1849320 {source="OMIM:268800"} xref: UMLS:C1849321 {source="OMIM:268800"} xref: UMLS:C1849322 {source="OMIM:268800"} -is_a: MONDO:0002561 {source="MESH:D012497/inferred", source="MONDO:Redundant", source="NCIT:C85052", source="Orphanet:796/inferred", source="linkedlifedata"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="DOID:3323/inferred", source="MESH:D012497/inferred", source="MONDO:Redundant", source="NCIT:C85052", source="Orphanet:796/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disease is_a: MONDO:0016133 {source="Orphanet:796"} ! rare hereditary metabolic disease with peripheral neuropathy -is_a: MONDO:0017720 {source="DOID:3323", source="ICD10:E75.01", source="MONDOLEX:0010006", source="Orphanet:796", source="linkedlifedata"} ! GM2 gangliosidosis +is_a: MONDO:0017720 {source="DOID:3323", source="ICD10:E75.01", source="MESH:D012497", source="MONDOLEX:0010006", source="Orphanet:796", source="linkedlifedata"} ! GM2 gangliosidosis is_a: MONDO:0020143 {source="Orphanet:796"} ! cerebral lipidosis with dementia is_a: MONDO:0020282 {source="Orphanet:796"} ! metabolic disease with macular cherry-red spot relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4879 {source="mim2gene_medgen"} ! HEXB @@ -190376,7 +192166,7 @@ is_a: MONDO:0015160 {source="Orphanet:798"} ! multiple congenital anomalies/dysm is_a: MONDO:0015162 {source="Orphanet:798"} ! rare syndromic intellectual disability is_a: MONDO:0015945 {source="Orphanet:798"} ! polymalformative genetic syndrome with increased risk of developing cancer is_a: MONDO:0015983 ! rare genetic syndromic intellectual disability -is_a: MONDO:0019287 {source="Orphanet:798", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="Orphanet:798", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0019721 {source="Orphanet:798"} ! syndromic renal or urinary tract malformation is_a: MONDO:0043007 {source="Orphanet:798"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15573 {source="mim2gene_medgen"} ! SETBP1 @@ -190398,7 +192188,7 @@ xref: OMIM:269160 {source="ORDO:799/e", source="GARD:0000166", source="Orphanet: xref: Orphanet:799 {source="OMIM:269160", source="GARD:0000166", source="MONDO:equivalentTo"} xref: SCTID:253159001 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0266484 {source="NCBI:mim2gene_medline", source="OMIM:269160", source="Orphanet:799", source="NCIT:C99056"} -is_a: MONDO:0002320 {source="NCIT:C99056"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="NCIT:C99056"} ! congenital nervous system disorder is_a: MONDO:0015655 {source="Orphanet:799"} ! cerebral malformation with epilepsy is_a: MONDO:0017103 {source="Orphanet:799"} ! Encephaloclastic disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10848 {source="mim2gene_medgen"} ! SHH @@ -190466,7 +192256,7 @@ xref: OMIM:269250 {source="Orphanet:3144", source="ORDO:3144/e", source="MONDO:e xref: Orphanet:3144 {source="OMIM:269250", source="MONDO:equivalentTo"} xref: SCTID:254049009 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0432194 {source="Orphanet:3144", source="ORDO:3144/e", source="NCBI:mim2gene_medline", source="OMIM:269250", source="MONDO:equivalentTo"} -is_a: MONDO:0005516 {source="DOID:0050775", source="MESH:C536637", source="linkedlifedata"} ! osteochondrodysplasia +is_a: MONDO:0005516 {source="DOID:0050775", source="MESH:C536637", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0017744 {source="Orphanet:3144"} ! disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis is_a: MONDO:0018292 {source="Orphanet:3144"} ! congenital disorder of glycosylation-related bone disorder is_a: MONDO:0019694 {source="Orphanet:3144"} ! spondylodysplastic dysplasia @@ -190499,6 +192289,7 @@ alt_id: MONDO:0000817 def: "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the PXDN gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_malformation_syndrome {source="Orphanet:289499"} synonym: "anterior segment dysgenesis 7; ASGD7" RELATED [OMIM:269400] +synonym: "anterior segment dysgenesis caused by mutation in PXDN" EXACT [MONDO:design_pattern] synonym: "ASGD7" RELATED [OMIM:269400] synonym: "CCMCO" EXACT [Orphanet:289499] synonym: "congenital cataract microcornea with corneal opacity" RELATED [Orphanet:289499] @@ -190507,6 +192298,7 @@ synonym: "corneal opacification and other ocular anomalies" RELATED [DOID:006064 synonym: "corneal opacification with Other ocular anomalies" RELATED [OMIM:269400] synonym: "corneal opacification with other ocular anomalies" RELATED [MONDO:Lexical, OMIM:269400] synonym: "corneal opacification with other ocular anomalies; COPOA" RELATED [OMIM:269400] +synonym: "PXDN anterior segment dysgenesis" EXACT [MONDO:design_pattern] synonym: "sclerocornea with Other ocular anomalies" RELATED [OMIM:269400] synonym: "sclerocornea with other ocular anomalies" EXACT [DOID:0060648] xref: DOID:0060648 {source="MONDO:equivalentTo"} @@ -190525,12 +192317,14 @@ property_value: confidence "8.333333333333334" xsd:double [Term] id: MONDO:0010016 name: sclerosteosis 1 -def: "A sclerosteosis that has_material_basis_in homozygous mutation in the SOST gene on chromosome 17q21." [DOID:0060756, PMID:11179006] +def: "Any sclerosteosis in which the cause of the disease is a mutation in the SOST gene." [MONDO:design_pattern] synonym: "cortical hyperostosis with syndactyly" RELATED [OMIM:269500] synonym: "sclerosteosis 1" EXACT [MONDO:Lexical, OMIM:269500] synonym: "sclerosteosis 1; SOST1" RELATED [OMIM:269500] +synonym: "sclerosteosis caused by mutation in SOST" EXACT [MONDO:design_pattern] synonym: "sclerosteosis type 1" EXACT [DOID:0060756, MONDORULE:1, OMIM:269500] synonym: "SOST" RELATED [OMIM:269500] +synonym: "SOST sclerosteosis" EXACT [MONDO:design_pattern] synonym: "SOST1" EXACT [DOID:0060756, MONDO:Lexical, OMIM:269500] xref: DOID:0060756 {source="MONDO:equivalentTo"} xref: ICD10:M85.2 {source="DOID:0060756"} @@ -190824,6 +192618,7 @@ def: "A congenital condition in which there is complete right-to-left reversal o subset: ordo_morphological_anomaly {source="Orphanet:101063"} synonym: "complete situs inversus" EXACT [Orphanet:101063] synonym: "complete situs inversus viscerum" EXACT [Orphanet:101063] +synonym: "Complete transposition" EXACT [DOID:758] synonym: "complete transposition (morphologic abnormality)" EXACT [DOID:758, SCTID:27317008] synonym: "heterotaxy, visceral, 5, autosomal" RELATED [MONDO:Lexical, OMIM:270100] synonym: "heterotaxy, visceral, 5, autosomal; HTX5" RELATED [OMIM:270100] @@ -190899,9 +192694,9 @@ xref: SCTID:83901003 {source="MONDO:kboom-pr-0.99/0.74/5.63", source="DOID:12894 xref: UMLS:C0086981 {source="OMIM:270150", source="DOID:12894"} xref: UMLS:C1527336 {source="NCIT:C26883", source="NCBI:mim2gene_medline", source="OMIM:270150", source="DOID:12894"} is_a: MONDO:0001142 {source="MESH:D012859/inferred", source="MONDO:Entailed", source="OWLReasoner:2017"} ! salivary gland disease -is_a: MONDO:0001854 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! lacrimal apparatus disease +is_a: MONDO:0001854 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! lacrimal apparatus disease is_a: MONDO:0002254 {source="MONDOLEX:0010030", source="NCIT:C26883"} ! syndromic disease -is_a: MONDO:0007179 {source="EFO:0000699", source="MESH:D012859/inferred", source="MONDO:Redundant", source="NCIT:C26883", source="linkedlifedata"} ! autoimmune disease +is_a: MONDO:0007179 {source="DOID:12894", source="EFO:0000699", source="MESH:D012859/inferred", source="MONDO:Redundant", source="NCIT:C26883", source="linkedlifedata"} ! autoimmune disease is_a: MONDO:0015939 {source="Orphanet:289390"} ! systemic autoimmune disease relationship: disease_has_feature HP:0001097 {source="Wikidata"} ! Keratoconjunctivitis sicca relationship: disease_has_location UBERON:0001044 {source="EFO:0000784"} ! saliva-secreting gland @@ -191061,7 +192856,9 @@ synonym: "DIAR3" RELATED [MONDO:Lexical, OMIM:270420] synonym: "diarrhea 3, secretory sodium, congenital, syndromic" RELATED [OMIM:270420] synonym: "diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies" RELATED [MONDO:Lexical, OMIM:270420] synonym: "diarrhea 3, secretory sodium, congenital, with or without other congenital anomalies; DIAR3" RELATED [OMIM:270420] +synonym: "secretory diarrhea caused by mutation in SPINT2" EXACT [MONDO:design_pattern] synonym: "sodium diarrhea, congenital" RELATED [OMIM:270420] +synonym: "SPINT2 secretory diarrhea" EXACT [MONDO:design_pattern] xref: DOID:0060781 {source="MONDO:equivalentTo"} xref: ICD10:P78.3 {source="DOID:0060781"} xref: OMIM:270420 {source="DOID:0060781", source="MONDO:equivalentTo"} @@ -191071,6 +192868,7 @@ xref: UMLS:C2678346 {source="OMIM:270420"} is_a: MONDO:0000249 {source="DOID:0060781"} ! secretory diarrhea is_a: MONDO:0000824 {source="DC-OMIM:270420", source="MONDO:Redundant", source="OMIM:270420"} ! congenital diarrhea is_a: MONDO:0015170 {source="ORDO:103908/btnt"} ! congenital sodium diarrhea +is_a: MONDO:0045032 ! congenital secretory diarrhea intersection_of: MONDO:0000249 ! secretory diarrhea intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11247 ! SPINT2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11247 {source="mim2gene_medgen"} ! SPINT2 @@ -191194,8 +192992,10 @@ def: "Any hereditary spastic paraplegia in which the cause of the disease is a m subset: ordo_disease {source="Orphanet:100998"} synonym: "autosomal dominant spastic paraplegia 17" EXACT [DOID:0110770] synonym: "autosomal dominant spastic paraplegia type 17" EXACT [DOID:0110770] +synonym: "BSCL2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "dHMN5B" EXACT [DOID:0110770] synonym: "distal hereditary motor neuropathy type 5B" EXACT [DOID:0110770] +synonym: "hereditary spastic paraplegia caused by mutation in BSCL2" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 17" EXACT [DOID:0110770, MONDORULE:2] synonym: "Silver spastic paraplegia syndrome" EXACT [DOID:0110770] synonym: "Silver spastic paraplegia syndrome" RELATED [OMIM:270685] @@ -191218,7 +193018,7 @@ xref: UMLS:C2931276 {source="Orphanet:100998", source="OMIM:270685", source="MON xref: UMLS:CN074197 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015087 {source="Orphanet:100998"} ! autosomal dominant complex spastic paraplegia is_a: MONDO:0015362 {source="Orphanet:100998"} ! autosomal dominant distal hereditary motor neuropathy -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:270685", source="Orphanet:100998/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110770", source="MESH:C536644", source="MONDO:Redundant", source="OMIM:270685", source="Orphanet:100998/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15832 ! BSCL2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15832 {source="mim2gene_medgen"} ! BSCL2 @@ -191229,6 +193029,7 @@ id: MONDO:0010044 name: hereditary spastic paraplegia 15 def: "Autosomal recessive spastic paraplegia type 15 is a complex form of hereditary spastic paraplegia characterized by a childhood to adulthood onset of slowly progressive lower limb spasticity (resulting in gait disturbance, extensor plantar responses and decreased vibration sense) associated with mild intellectual disability, mild cerebellar ataxia, peripheral neuropathy (with distal upper limb amyotrophy) and retinal degeneration. Thin corpus callosum is a common imaging finding." [Orphanet:100996] subset: ordo_disease {source="Orphanet:100996"} +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ZFYVE26" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 15" EXACT [DOID:0110768] synonym: "autosomal recessive spastic paraplegia type 15" EXACT [DOID:0110768] synonym: "hereditary spastic paraparesis type 15" EXACT [DOID:0110768, Orphanet:100996] @@ -191243,6 +193044,7 @@ synonym: "spastic paraplegia and retinal Degeneration" RELATED [OMIM:270700] synonym: "spastic paraplegia and retinal degeneration" EXACT [DOID:0110768] synonym: "spastic paraplegia-retinal degeneration syndrome" EXACT [DOID:0110768, Orphanet:100996] synonym: "SPG15" EXACT [DOID:0110768, MONDO:Lexical, OMIM:270700, Orphanet:100996] +synonym: "ZFYVE26 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] xref: DOID:0110768 {source="MONDO:equivalentTo"} xref: GARD:0009581 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G11.4 {source="ORDO:100996/attributed", source="DOID:0110768", source="MONDO:subClassOf", source="ORDO:100996/ntbt", source="Orphanet:100996"} @@ -191252,7 +193054,7 @@ xref: Orphanet:100996 {source="OMIM:270700", source="DOID:0110768", source="MOND xref: SCTID:709417000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.76/8.40"} xref: UMLS:C1849128 {source="OMIM:270700", source="NCBI:mim2gene_medline", source="ORDO:100996/e", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="Orphanet:100996"} is_a: MONDO:0015089 {source="Orphanet:100996"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:270700", source="Orphanet:100996/inferred", source="linkedlifedata"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110768", source="MESH:C536642", source="MONDO:Redundant", source="OMIM:270700", source="Orphanet:100996/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20761 ! ZFYVE26 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20761 {source="mim2gene_medgen"} ! ZFYVE26 @@ -191285,7 +193087,9 @@ id: MONDO:0010046 name: hereditary spastic paraplegia 23 def: "Autosomal recessive spastic paraplegia type 23 (SPG23) is a rare, complex type of hereditary spastic paraplegia that presents in childhood with progressive spastic paraplegia, associated with peripheral neuropathy, skin pigment abnormalities (i.e. vitiligo, hyperpigmentation, diffuse lentigines), premature graying of hair, and characteristic facies (i.e. thin with ''sharp'' features). The SPG23 phenotype has been mapped to a locus on chromosome 1q24-q32." [Orphanet:101003] subset: ordo_disease {source="Orphanet:101003"} +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in DSTYK" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia type 23" RELATED [Orphanet:101003] +synonym: "DSTYK autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 23" EXACT [DOID:0110774, MONDORULE:2] synonym: "Lison syndrome" EXACT [DOID:0110774, Orphanet:101003] synonym: "Lison syndrome" RELATED [OMIM:270750] @@ -191308,7 +193112,7 @@ xref: OMIM:270750 {source="DOID:0110774", source="Orphanet:101003", source="MOND xref: Orphanet:101003 {source="DOID:0110774", source="MONDO:equivalentTo", source="OMIM:270750"} xref: UMLS:C0796019 {source="NCBI:mim2gene_medline", source="Orphanet:101003", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:270750"} is_a: MONDO:0015089 {source="Orphanet:101003"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:270750", source="Orphanet:101003/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110774", source="MESH:C536859", source="MONDO:Redundant", source="OMIM:270750", source="Orphanet:101003/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29043 ! DSTYK relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29043 {source="mim2gene_medgen"} ! DSTYK @@ -191323,7 +193127,9 @@ subset: ordo_disease {source="Orphanet:100986"} synonym: "autosomal recessive spastic paraplegia" RELATED [GARD:0004926] synonym: "autosomal recessive spastic paraplegia 5A" EXACT [DOID:0110810] synonym: "autosomal recessive spastic paraplegia type 5A" EXACT [DOID:0110810] +synonym: "CYP7B1 pure or complex autosomal recessive spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 5A" EXACT [DOID:0110810, MONDORULE:4] +synonym: "pure or complex autosomal recessive spastic paraplegia caused by mutation in CYP7B1" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 5A" RELATED [GARD:0004926] synonym: "spastic paraplegia 5A, autosomal recessive" RELATED [MONDO:Lexical, OMIM:270800] synonym: "spastic paraplegia 5A, autosomal recessive; SPG5A" RELATED [OMIM:270800] @@ -191340,7 +193146,7 @@ xref: UMLS:C1849115 {source="OMIM:270800", source="NCBI:mim2gene_medline", sourc xref: UMLS:C2931356 {source="ORDO:100986/e", source="Orphanet:100986"} xref: UMLS:C2931357 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0017915 {source="Orphanet:100986"} ! pure or complex autosomal recessive spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:270800", source="Orphanet:100986/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110810", source="MONDO:Redundant", source="OMIM:270800", source="Orphanet:100986/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0017915 ! pure or complex autosomal recessive spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2652 ! CYP7B1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2652 {source="mim2gene_medgen"} ! CYP7B1 @@ -191405,6 +193211,7 @@ id: MONDO:0010052 name: spermatogenic failure 4 def: "Any azoospermia in which the cause of the disease is a mutation in the SYCP3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "arrest of spermatogenesis" RELATED [GARD:0008530] +synonym: "azoospermia caused by mutation in SYCP3" EXACT [MONDO:design_pattern] synonym: "azoospermia due to Perturbations of meiosis" RELATED [OMIM:270960] synonym: "azoospermia with maturation arrest" RELATED [OMIM:270960] synonym: "pregnancy loss, recurrent, 4" RELATED [OMIM:270960] @@ -191414,6 +193221,7 @@ synonym: "spermatogenic failure 4" EXACT [MONDO:Lexical, OMIM:270960] synonym: "spermatogenic failure 4; SPGF4" RELATED [OMIM:270960] synonym: "spermatogenic failure type 4" EXACT [MONDORULE:1, OMIM:270960] synonym: "SPGF4" RELATED [MONDO:Lexical, OMIM:270960] +synonym: "SYCP3 azoospermia" EXACT [MONDO:design_pattern] xref: GARD:0008530 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: MESH:C536875 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:270960 {source="MONDO:equivalentTo"} @@ -191432,11 +193240,13 @@ id: MONDO:0010053 name: hereditary spherocytosis type 3 def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SPTA1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "hereditary spherocytosis 3" EXACT [DOID:0110918] +synonym: "hereditary spherocytosis caused by mutation in SPTA1" EXACT [MONDO:design_pattern] synonym: "HS3" EXACT [DOID:0110918] synonym: "SPH3" EXACT [DOID:0110918, MONDO:Lexical, OMIM:270970] synonym: "spherocytosis, hereditary, 3" RELATED [OMIM:270970] synonym: "spherocytosis, type 3" RELATED [MONDO:Lexical, OMIM:270970] synonym: "spherocytosis, type 3; SPH3" RELATED [OMIM:270970] +synonym: "SPTA1 hereditary spherocytosis" EXACT [MONDO:design_pattern] xref: DOID:0110918 {source="MONDO:equivalentTo"} xref: MESH:C567489 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:270970 {source="DOID:0110918", source="MONDO:equivalentTo"} @@ -191481,6 +193291,7 @@ synonym: "SMA-IV" EXACT [Orphanet:83420] synonym: "SMA4" EXACT [Orphanet:83420] synonym: "SMA4" RELATED [MONDO:Lexical, OMIM:271150] synonym: "spinal muscular atrophy 4" RELATED [GARD:0000564] +synonym: "spinal muscular atrophy of adults" EXACT [MONDO:design_pattern] synonym: "spinal muscular atrophy type 4" RELATED [GARD:0000564] synonym: "spinal muscular atrophy, adult form" EXACT [DOID:0050529, Orphanet:83420] synonym: "spinal muscular atrophy, adult form" RELATED [GARD:0000564, OMIM:271150] @@ -191543,7 +193354,7 @@ xref: GARD:0004947 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: MESH:C564805 {source="MONDO:equivalentTo"} xref: OMIM:271225 {source="MONDO:equivalentTo"} xref: UMLS:C1849101 {source="NCBI:mim2gene_medline", source="OMIM:271225", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C564805/inferred"} ! inherited genetic disease [Term] id: MONDO:0010060 @@ -191612,7 +193423,7 @@ id: MONDO:0010062 name: spinocerebellar ataxia-dysmorphism syndrome def: "Spinocerebellar ataxia-dysmorphism is marked by characteristic facies associated with dysarthria, delayed psychomotor development, ataxia, scoliosis and foot deformities. Three cases have been described and transmission appears to be autosomal recessive." [Orphanet:1185] subset: ordo_disease {source="Orphanet:1185"} -synonym: "spinocerebellar ataxia with DYSMORPHISM" RELATED [OMIM:271270] +synonym: "spinocerebellar ataxia with dysmorphism" RELATED [OMIM:271270] xref: GARD:0004958 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G11.8 {source="Orphanet:1185", source="ORDO:1185/attributed", source="ORDO:1185/ntbt"} xref: MESH:C564802 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -191643,7 +193454,7 @@ xref: Orphanet:3177 {source="MONDO:equivalentTo", source="OMIM:271310"} xref: SCTID:720750004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.73"} xref: UMLS:C1849087 {source="Orphanet:3177", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:271310", source="ORDO:3177/e"} is_a: MONDO:0000557 {source="Orphanet:3177"} ! hereditary ataxia -is_a: MONDO:0004884 {source="linkedlife/inferred"} ! eye degenerative disease +is_a: MONDO:0004884 {source="linkedlife/inferred", source="linkedlifedata/inferred"} ! eye degenerative disease is_a: MONDO:0020215 {source="Orphanet:3177"} ! syndromic corneal dystrophy property_value: confidence "9.0" xsd:double @@ -191819,6 +193630,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4978/spondylo id: MONDO:0010072 name: spondyloepiphyseal dysplasia tarda, autosomal recessive def: "Autosomal recessive form of spondyloepiphyseal dysplasia tarda." [MONDO:patterns/autosomal_recessive] +synonym: "autosomal recessive spondyloepiphyseal dysplasia tarda" EXACT [MONDO:design_pattern] synonym: "spondyloepiphyseal dysplasia tarda, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive, OMIM:271600] xref: MESH:C564797 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:271600 {source="MONDO:equivalentTo"} @@ -191867,8 +193679,10 @@ property_value: confidence "39.49999999999994" xsd:double id: MONDO:0010075 name: spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures def: "Any spondyloepimetaphyseal dysplasia with joint laxity in which the cause of the disease is a mutation in the B3GALT6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "B3GALT6 spondyloepimetaphyseal dysplasia with joint laxity" EXACT [MONDO:design_pattern] synonym: "SEMDJL" RELATED [OMIM:271640] synonym: "SEMDJL1" RELATED [MONDO:Lexical, OMIM:271640] +synonym: "spondyloepimetaphyseal dysplasia with joint laxity caused by mutation in B3GALT6" EXACT [MONDO:design_pattern] synonym: "spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures" EXACT [MONDO:Lexical, OMIM:271640] synonym: "spondyloepimetaphyseal dysplasia with JOINT laxity, type 1, with or without fractures; SEMDJL1" RELATED [OMIM:271640] xref: OMIM:271640 {source="MONDO:equivalentTo"} @@ -191986,7 +193800,7 @@ is_a: MONDO:0016399 {source="Orphanet:141"} ! amino acid or protein metabolism d is_a: MONDO:0017686 {source="Orphanet:141"} ! inborn aminoacylase deficiency is_a: MONDO:0019046 {source="DOID:3613", source="NCIT:C84611", source="Orphanet:141"} ! leukodystrophy is_a: MONDO:0019058 {source="Orphanet:141"} ! neurometabolic disease -is_a: MONDO:0024237 {source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder +is_a: MONDO:0024237 {source="MESH:D017825", source="MESH:D017825/inferred", source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/756 {source="mim2gene_medgen"} ! ASPA property_value: confidence "4.277777777777779" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5984/canavan-disease xsd:anyURI {source="GARD:0005984"} @@ -192203,7 +194017,7 @@ xref: SCTID:254076009 {source="DOID:0050441"} xref: SCTID:54898003 {source="MONDO:kboom-pr-1.00/0.79/8.61", source="DOID:0050441", source="MONDO:equivalentTo"} xref: UMLS:C0268263 {source="Orphanet:585", source="NCBI:mim2gene_medline", source="NCIT:C84908", source="OMIM:272200", source="ORDO:585/e", source="DOID:0050441", source="MONDO:equivalentTo"} xref: UMLS:C1720864 {source="Orphanet:585", source="OMIM:272200", source="ORDO:585/e", source="DOID:0050441"} -is_a: MONDO:0002561 {source="MESH:D052517/inferred", source="MONDO:Redundant", source="NCIT:C84908", source="Orphanet:585/inferred", source="linkedlifedata"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="DOID:0050441/inferred", source="MESH:D052517/inferred", source="MONDO:Redundant", source="NCIT:C84908", source="Orphanet:585/inferred", source="linkedlifedata"} ! lysosomal storage disease is_a: MONDO:0015327 {source="Orphanet:585"} ! developmental anomaly of metabolic origin is_a: MONDO:0015955 {source="MONDO:Entailed"} ! rare genetic epilepsy is_a: MONDO:0017273 {source="Orphanet:585"} ! autosomal ichthyosis syndrome with fatal disease course @@ -192435,8 +194249,8 @@ xref: OMIM:272750 {source="DOID:4795", source="ORDO:309246/e", source="MONDO:equ xref: Orphanet:309246 {source="OMIM:272750", source="MONDO:equivalentTo"} xref: SCTID:71253000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4795", source="MONDO:equivalentTo"} xref: UMLS:C0268275 {source="NCBI:mim2gene_medline", source="DOID:4795", source="OMIM:272750", source="MEDGEN:kboom-pr98-c99", source="NCIT:C133084", source="MONDO:equivalentTo", source="Orphanet:309246"} -is_a: MONDO:0002561 {source="MESH:D049290/inferred", source="MONDO:Redundant", source="NCIT:C133084", source="Orphanet:309246/inferred", source="linkedlifedata"} ! lysosomal storage disease -is_a: MONDO:0017720 {source="DOID:4795", source="MONDOLEX:0010099", source="Orphanet:309246", source="linkedlifedata"} ! GM2 gangliosidosis +is_a: MONDO:0002561 {source="DOID:4795/inferred", source="MESH:D049290/inferred", source="MONDO:Redundant", source="NCIT:C133084", source="Orphanet:309246/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lysosomal storage disease +is_a: MONDO:0017720 {source="DOID:4795", source="MESH:D049290", source="MONDOLEX:0010099", source="Orphanet:309246", source="linkedlifedata", source="linkedlifedata/inferred"} ! GM2 gangliosidosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4367 {source="mim2gene_medgen"} ! GM2A property_value: confidence "3.7222222222222223" xsd:double @@ -192486,11 +194300,11 @@ xref: UMLS:C1848916 {source="OMIM:272800"} xref: UMLS:C1848917 {source="OMIM:272800"} xref: UMLS:C1848922 {source="ORDO:845/e", source="Orphanet:845"} xref: UMLS:C2749283 {source="OMIM:272800"} -is_a: MONDO:0002561 {source="PMID:21723623"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="DOID:3320/inferred", source="MESH:D013661/inferred", source="Orphanet:845/inferred", source="PMID:21723623", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disease is_a: MONDO:0016133 {source="Orphanet:845"} ! rare hereditary metabolic disease with peripheral neuropathy -is_a: MONDO:0017720 {source="DOID:3320", source="ICD10:E75.02", source="MONDOLEX:0010100", source="Orphanet:845", source="linkedlifedata"} ! GM2 gangliosidosis -is_a: MONDO:0019255 {source="MESH:D013661/inferred", source="MONDO:Redundant", source="NCIT:C85184", source="Orphanet:845/inferred"} ! sphingolipidosis +is_a: MONDO:0017720 {source="DOID:3320", source="ICD10:E75.02", source="MESH:D013661", source="MONDOLEX:0010100", source="Orphanet:845", source="linkedlifedata"} ! GM2 gangliosidosis +is_a: MONDO:0019255 {source="DOID:3320/inferred", source="MESH:D013661/inferred", source="MONDO:Redundant", source="NCIT:C85184", source="Orphanet:845/inferred"} ! sphingolipidosis is_a: MONDO:0020143 {source="Orphanet:845"} ! cerebral lipidosis with dementia is_a: MONDO:0020282 {source="Orphanet:845"} ! metabolic disease with macular cherry-red spot relationship: disease_has_basis_in_disruption_of GO:0004563 ! beta-N-acetylhexosaminidase activity @@ -192635,6 +194449,7 @@ synonym: "nonseminomatous germ cell tumors" RELATED [OMIM:273300] synonym: "seminoma" RELATED [OMIM:273300] synonym: "spermatocytic seminoma" RELATED [OMIM:273300] synonym: "teratoma, testicular" RELATED [OMIM:273300] +synonym: "testicular germ cell cancer" RELATED [DOID:5557] synonym: "testicular germ cell neoplasm" EXACT [DOID:5557, NCIT:C8591] synonym: "testicular germ cell neoplasms" EXACT [NCIT:C8591] synonym: "testicular germ cell tumor" EXACT [MONDO:Lexical, NCIT:C8591, OMIM:273300, Orphanet:363504] @@ -192667,8 +194482,8 @@ xref: UMLS:C0334517 {source="OMIM:273300", source="MONDO:superClassOf"} xref: UMLS:C1266158 {source="OMIM:273300"} xref: UMLS:C1336708 {source="DOID:5557", source="NCIT:C8591", source="Orphanet:363504", source="OMIM:273300", source="MONDO:equivalentTo"} xref: UMLS:C3463918 {source="OMIM:273300"} -is_a: MONDO:0002329 {source="MESH:C563236/inferred", source="MONDO:Redundant", source="NCIT:C8591/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! testicular disease -is_a: MONDO:0005040 {source="EFO:1000566", source="MONDO:Redundant", source="NCIT:C8591"} ! germ cell tumor +is_a: MONDO:0002329 {source="DOID:5557/inferred", source="MESH:C563236/inferred", source="MONDO:Redundant", source="NCIT:C8591/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! testicular disease +is_a: MONDO:0005040 {source="DOID:5557/inferred", source="EFO:1000566", source="MONDO:Redundant", source="NCIT:C8591"} ! germ cell tumor is_a: MONDO:0018191 {source="Orphanet:363504"} ! tumor of testis and paratestis is_a: MONDO:0018202 {source="Orphanet:363504"} ! gonadal germ cell tumor is_a: MONDO:0021348 {source="EFO:1000566", source="MONDO:Entailed", source="NCIT:C8591", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of testis @@ -192819,8 +194634,10 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0010117 name: three M syndrome 1 def: "Any 3-M syndrome in which the cause of the disease is a mutation in the CUL7 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "3-M syndrome caused by mutation in CUL7" EXACT [MONDO:design_pattern] synonym: "3M syndrome" RELATED [OMIM:273750] synonym: "3M1" RELATED [MONDO:Lexical, OMIM:273750] +synonym: "CUL7 3-M syndrome" EXACT [MONDO:design_pattern] synonym: "Dolichospondylic dysplasia" RELATED [OMIM:273750] synonym: "gloomy face syndrome" RELATED [OMIM:273750] synonym: "Le Merrer syndrome" RELATED [OMIM:273750] @@ -192863,13 +194680,13 @@ synonym: "Glanzmann thrombasthenia" EXACT [DOID:2219] synonym: "Glanzmann thrombasthenia" RELATED [MONDO:Lexical, OMIM:273800] synonym: "Glanzmann thrombasthenia type A" RELATED [GARD:0002478] synonym: "Glanzmann thrombasthenia; GT" RELATED [OMIM:273800] -synonym: "glycoprotein Complex Iib-Iiia, deficiency of" RELATED [OMIM:273800] +synonym: "glycoprotein Complex IIb-IIIa, deficiency of" RELATED [OMIM:273800] synonym: "glycoprotein IIb/IIIa defect" EXACT [DOID:2219, SCTID:191310008] -synonym: "GP Iib-Iiia Complex, deficiency of" RELATED [OMIM:273800] +synonym: "GP IIb-IIIa Complex, deficiency of" RELATED [OMIM:273800] synonym: "GT" RELATED [MONDO:Lexical, OMIM:273800] synonym: "Platelet fibrinogen receptor, deficiency of" RELATED [OMIM:273800] synonym: "Platelet glycoprotein 2B 3A deficiency" RELATED [GARD:0002478] -synonym: "Platelet glycoprotein Iib-Iiia deficiency" RELATED [OMIM:273800] +synonym: "Platelet glycoprotein IIb-IIIa deficiency" RELATED [OMIM:273800] synonym: "platelet glycoprotein IIb-IIIa deficiency" EXACT [DOID:2219] synonym: "platelet-type bleeding disorder 2" EXACT [DOID:2219] synonym: "thrombasthenia" EXACT [NCIT:C61249] @@ -192886,7 +194703,7 @@ xref: SCTID:191310008 {source="DOID:2219"} xref: SCTID:30577005 {source="DOID:2219"} xref: SCTID:32942005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2219", source="MONDO:equivalentTo"} xref: UMLS:C0040015 {source="NCBI:mim2gene_medline", source="OMIM:273800", source="Orphanet:849", source="NCIT:C61249", source="DOID:2219"} -is_a: MONDO:0000009 {source="DC-OMIM:273800", source="MONDO:Redundant", source="OMIM:273800"} ! inherited bleeding disorder, platelet-type +is_a: MONDO:0000009 {source="DC-OMIM:273800", source="DOID:2219", source="MONDO:Redundant", source="OMIM:273800"} ! inherited bleeding disorder, platelet-type is_a: MONDO:0017142 {source="Orphanet:849"} ! rare hemorrhagic disorder due to a qualitative platelet defect relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6138 {source="mim2gene_medgen"} ! ITGA2B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6156 {source="mim2gene_medgen"} ! ITGB3 @@ -193119,7 +194936,7 @@ xref: UMLS:C1959620 {source="DOID:14218", source="NCIT:C84672", source="OMIM:274 xref: UMLS:C2720286 {source="NCBI:mim2gene_medline"} xref: UMLS:C3495551 {source="DOID:14218"} is_a: MONDO:0018381 {source="MONDO:Redundant", source="Orphanet:1675"} ! osteochondrosis -is_a: MONDO:0019052 {source="MESH:D054067/inferred", source="MONDO:Redundant", source="NCIT:C84672", source="Orphanet:1675/inferred"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:14218/inferred", source="MESH:D054067/inferred", source="MONDO:Redundant", source="NCIT:C84672", source="Orphanet:1675/inferred"} ! inborn errors of metabolism is_a: MONDO:0019238 {source="Orphanet:1675"} ! inborn disorder of pyrimidine metabolism is_a: MONDO:0019254 {source="DOID:14218", source="MESH:D054067", source="MONDO:Redundant", source="Orphanet:1675/inferred"} ! inborn disorder of purine or pyrimidine metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3012 {source="mim2gene_medgen"} ! DPYD @@ -193180,7 +194997,7 @@ xref: OMIM:607200 {source="ORDO:95716/btnt", source="MONDO:superClassOf", source xref: Orphanet:95716 {source="MONDO:equivalentTo", source="OMIM:274400"} xref: SCTID:718183003 {source="MONDO:equivalentTo"} xref: UMLS:C1848805 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:274400"} -is_a: MONDO:0018612 {source="MESH:C564766", source="MONDO:Redundant", source="NCIT:C121751", source="Orphanet:95716/inferred"} ! congenital hypothyroidism +is_a: MONDO:0018612 {source="MESH:C564766", source="MONDO:Redundant", source="NCIT:C121751", source="Orphanet:95716/inferred", source="linkedlifedata"} ! congenital hypothyroidism is_a: MONDO:0019856 {source="Orphanet:95716"} ! primary congenital hypothyroidism without thyroid developmental anomaly relationship: disease_has_basis_in_disruption_of GO:0042403 ! thyroid hormone metabolic process relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11040 {source="mim2gene_medgen"} ! SLC5A5 @@ -193189,6 +195006,7 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11 id: MONDO:0010133 name: thyroid dyshormonogenesis 2A def: "Thyroid peroxidase system defect due to presumed mutation(s) in the TPO gene, resulting in decreased activity of thyroid peroxidase." [NCIT:C121750] +synonym: "familial thyroid dyshormonogenesis caused by mutation in TPO" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 2A" RELATED [OMIM:274500] synonym: "iodide peroxidase deficiency" RELATED [OMIM:274500] synonym: "TDH2A" RELATED [MONDO:Lexical, OMIM:274500] @@ -193197,6 +195015,7 @@ synonym: "thyroid dyshormonogenesis 2A; TDH2A" RELATED [OMIM:274500] synonym: "Thyroid dyshormonogenesis type 2A" EXACT [MONDORULE:4, OMIM:274500] synonym: "Thyroid hormonogenesis, genetic defect In, 2A" RELATED [OMIM:274500] synonym: "Thyroid peroxidase deficiency" RELATED [OMIM:274500] +synonym: "TPO familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern] xref: ICD9:277.6 {source="i2s", source="MONDO:relatedTo"} xref: MESH:C563206 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C121750 {source="MONDO:equivalentTo"} @@ -193205,7 +195024,7 @@ xref: Orphanet:95716 {source="OMIM:274500", source="MONDO:subClassOf"} xref: SCTID:124204003 {source="MONDO:kboom-pr-0.73/0.37/0.47", source="MONDO:equivalentTo"} xref: UMLS:C1291299 {source="NCBI:mim2gene_medline", source="OMIM:274500", source="MONDO:equivalentTo"} is_a: MONDO:0010132 {source="ORDO:95716/btnt"} ! familial thyroid dyshormonogenesis -is_a: MONDO:0018612 {source="NCIT:C121750"} ! congenital hypothyroidism +is_a: MONDO:0018612 {source="MESH:C563206", source="NCIT:C121750"} ! congenital hypothyroidism intersection_of: MONDO:0010132 ! familial thyroid dyshormonogenesis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12015 ! TPO relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12015 {source="mim2gene_medgen"} ! TPO @@ -193253,8 +195072,10 @@ property_value: confidence "62.49206349206348" xsd:double id: MONDO:0010135 name: thyroid dyshormonogenesis 3 def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the TG gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial thyroid dyshormonogenesis caused by mutation in TG" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 3" RELATED [OMIM:274700] synonym: "TDH3" RELATED [MONDO:Lexical, OMIM:274700] +synonym: "TG familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern] synonym: "thyroid dyshormonogenesis 3" EXACT [MONDO:Lexical, OMIM:274700] synonym: "thyroid dyshormonogenesis 3; TDH3" RELATED [OMIM:274700] synonym: "Thyroid dyshormonogenesis type 3" EXACT [MONDORULE:1, OMIM:274700] @@ -193275,8 +195096,10 @@ id: MONDO:0010136 name: thyroid dyshormonogenesis 4 def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the IYD gene." [MONDO:patterns/disease_series_by_gene] synonym: "deiodinase deficiency" RELATED [OMIM:274800] +synonym: "familial thyroid dyshormonogenesis caused by mutation in IYD" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 4" RELATED [OMIM:274800] synonym: "iodotyrosine dehalogenase deficiency" RELATED [OMIM:274800] +synonym: "IYD familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern] synonym: "TDH4" RELATED [MONDO:Lexical, OMIM:274800] synonym: "thyroid dyshormonogenesis 4" EXACT [MONDO:Lexical, OMIM:274800] synonym: "thyroid dyshormonogenesis 4; TDH4" RELATED [OMIM:274800] @@ -193297,6 +195120,8 @@ property_value: confidence "0.736735294117647" xsd:double id: MONDO:0010137 name: thyroid dyshormonogenesis 5 def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOXA2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DUOXA2 familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern] +synonym: "familial thyroid dyshormonogenesis caused by mutation in DUOXA2" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 5" RELATED [OMIM:274900] synonym: "TDH5" RELATED [MONDO:Lexical, OMIM:274900] synonym: "thyroid dyshormonogenesis 5" EXACT [MONDO:Lexical, OMIM:274900] @@ -193345,7 +195170,7 @@ xref: SCTID:90739004 {source="MONDO:kboom-pr-0.93/0.85/0.34", source="DOID:7997" xref: UMLS:C0018213 {source="OMIM:275000", source="NCBI:mim2gene_medline"} xref: UMLS:C0040156 {source="OMIM:275000", source="DOID:7997", source="NCIT:C61469", source="MONDO:equivalentTo"} xref: UMLS:C1848795 {source="OMIM:275000"} -is_a: MONDO:0004425 {source="MESH:D013971", source="MONDO:Redundant", source="NCIT:C61469", source="linkedlifedata"} ! hyperthyroidism +is_a: MONDO:0004425 {source="EFO:0009190", source="MESH:D013971", source="MONDO:Redundant", source="NCIT:C61469", source="linkedlifedata"} ! hyperthyroidism is_a: MONDO:0005364 {source="DC-OMIM:275000", source="MONDOLEX:0010138"} ! Graves disease [Term] @@ -193771,7 +195596,7 @@ xref: Orphanet:101000 {source="OMIM:275900", source="DOID:0050886", source="MOND xref: SCTID:230264003 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0393559 {source="NCBI:mim2gene_medline", source="Orphanet:101000", source="OMIM:275900", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:101000"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:275900", source="Orphanet:101000/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0050886", source="MESH:C536858", source="MONDO:Redundant", source="OMIM:275900", source="Orphanet:101000/inferred"} ! hereditary spastic paraplegia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18514 {source="mim2gene_medgen"} ! SPART property_value: confidence "22.33333333333334" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5372/troyer-syndrome xsd:anyURI {source="GARD:0005372"} @@ -193829,7 +195654,7 @@ xref: Orphanet:99817 {source="OMIM:276300"} xref: SCTID:61665008 {source="MONDO:kboom-pr-1.00/0.79/7.58", source="MONDO:equivalentTo"} xref: UMLS:C0265325 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:276300", source="MONDO:equivalentTo"} xref: UMLS:C4321324 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015356 {source="MESH:C536928", source="NCIT:C130202", source="Orphanet:252202", source="linkedlifedata"} ! hereditary neoplastic syndrome +is_a: MONDO:0015356 {source="MESH:C536928", source="NCIT:C130202", source="Orphanet:252202", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0016756 {source="Orphanet:252202"} ! inherited nervous system cancer-predisposing syndrome is_a: MONDO:0018040 {source="Orphanet:252202"} ! immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7127 {source="mim2gene_medgen"} ! MLH1 @@ -194112,6 +195937,8 @@ name: Usher syndrome type 2A def: "Any Usher syndrome in which the cause of the disease is a mutation in the USH2A gene." [MONDO:patterns/disease_series_by_gene] synonym: "US2" RELATED [GARD:0005440] synonym: "USH2A" EXACT [DOID:0110838, MONDO:Lexical, OMIM:276901] +synonym: "USH2A Usher syndrome" EXACT [MONDO:design_pattern] +synonym: "Usher syndrome caused by mutation in USH2A" EXACT [MONDO:design_pattern] synonym: "Usher syndrome type IIA" EXACT [DOID:0110838] synonym: "Usher syndrome, type 2A" RELATED [OMIM:276901] synonym: "USHER syndrome, type IIA" RELATED [MONDO:Lexical, OMIM:276901] @@ -194125,7 +195952,7 @@ xref: Orphanet:231178 {source="OMIM:276901", source="MONDO:subClassOf"} xref: Orphanet:886 {source="OMIM:276901", source="MONDO:subClassOf"} xref: UMLS:C1848634 {source="NCBI:mim2gene_medline", source="OMIM:276901", source="MONDO:equivalentTo"} is_a: MONDO:0016484 {source="DOID:0110838", source="MONDOLEX:0010169"} ! Usher syndrome type 2 -is_a: MONDO:0019501 {source="MESH:C536490", source="MONDO:Redundant", source="OMIM:276901"} ! Usher syndrome +is_a: MONDO:0019501 {source="DOID:0110838/inferred", source="MESH:C536490", source="MONDO:Redundant", source="OMIM:276901"} ! Usher syndrome intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12601 ! USH2A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12601 {source="mim2gene_medgen"} ! USH2A @@ -194134,7 +195961,9 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12 id: MONDO:0010170 name: Usher syndrome type 3A def: "Any Usher syndrome in which the cause of the disease is a mutation in the CLRN1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CLRN1 Usher syndrome" EXACT [MONDO:design_pattern] synonym: "USH3A" EXACT [DOID:0110841, MONDO:Lexical, OMIM:276902] +synonym: "Usher syndrome caused by mutation in CLRN1" EXACT [MONDO:design_pattern] synonym: "Usher syndrome type IIIA" EXACT [DOID:0110841] synonym: "Usher syndrome, type 3" RELATED [OMIM:276902] synonym: "Usher syndrome, type 3A" RELATED [OMIM:276902] @@ -194147,7 +195976,7 @@ xref: Orphanet:231183 {source="OMIM:276902", source="MONDO:subClassOf"} xref: Orphanet:886 {source="OMIM:276902", source="MONDO:subClassOf"} xref: UMLS:C1568248 {source="NCBI:mim2gene_medline", source="OMIM:276902", source="MONDO:subClassOf"} is_a: MONDO:0016485 {source="DOID:0110841", source="MONDOLEX:0010170"} ! Usher syndrome type 3 -is_a: MONDO:0019501 {source="MONDO:Redundant", source="OMIM:276902"} ! Usher syndrome +is_a: MONDO:0019501 {source="DOID:0110841/inferred", source="MONDO:Redundant", source="OMIM:276902"} ! Usher syndrome intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12605 ! CLRN1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12605 {source="mim2gene_medgen"} ! CLRN1 @@ -194173,7 +196002,7 @@ xref: Orphanet:231169 {source="OMIM:276904", source="MONDO:subClassOf"} xref: Orphanet:886 {source="OMIM:276904", source="MONDO:subClassOf"} xref: UMLS:C1848604 {source="NCBI:mim2gene_medline", source="OMIM:276904", source="MONDO:equivalentTo"} is_a: MONDO:0010168 {source="DOID:0110830", source="MONDOLEX:0010171"} ! Usher syndrome type 1 -is_a: MONDO:0019501 {source="MONDO:Redundant", source="OMIM:276904"} ! Usher syndrome +is_a: MONDO:0019501 {source="DOID:0110830/inferred", source="MONDO:Redundant", source="OMIM:276904"} ! Usher syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12597 {source="mim2gene_medgen"} ! USH1C property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5437/usher-syndrome-type-1c xsd:anyURI {source="GARD:0005437"} @@ -194258,7 +196087,7 @@ xref: MESH:C536524 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:277100 {source="MONDO:equivalentTo"} xref: SCTID:47719001 {source="MONDO:kboom-pr-1.00/0.80/9.36", source="MONDO:equivalentTo"} xref: UMLS:C0268573 {source="OMIM:277100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MESH:C536524/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C536524/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7845/valinemia xsd:anyURI {source="GARD:0007845"} [Term] @@ -194388,7 +196217,7 @@ xref: OMIM:277200 {source="ORDO:439/e", source="Orphanet:439", source="MONDO:equ xref: Orphanet:439 {source="OMIM:277200", source="MONDO:equivalentTo"} xref: SCTID:718135001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1848587 {source="NCBI:mim2gene_medline", source="OMIM:277200", source="Orphanet:439", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0020291 {source="Orphanet:439"} ! hypoplastic right heart syndrome property_value: confidence "7.125" xsd:double @@ -194438,7 +196267,7 @@ def: "Oculogastrointestinal muscular dystrophy is an extremely rare autosomal re subset: ordo_disease {source="Orphanet:1876"} synonym: "familial visceral myopathy with external ophthalmoplegia" RELATED [GARD:0005496] synonym: "intestinal pseudoobstruction with external ophthalmoplegia" RELATED [OMIM:277320] -synonym: "muscular dystrophy, Oculogastrointestinal" RELATED [OMIM:277320] +synonym: "muscular dystrophy, oculogastrointestinal" RELATED [OMIM:277320] synonym: "visceral myopathy - familial external ophthalmoplegia" RELATED [GARD:0005496] synonym: "visceral MYOPATHY, familial, with external ophthalmoplegia" RELATED [OMIM:277320] synonym: "visceral myopathy-familial external ophthalmoplegia syndrome" EXACT [Orphanet:1876] @@ -194611,9 +196440,11 @@ synonym: "Pseudovitamin D-deficiency, type 2A" RELATED [OMIM:277440] synonym: "rickets, hereditary Vitamin D-resistant" RELATED [OMIM:277440] synonym: "rickets-alopecia syndrome" RELATED [OMIM:277440] synonym: "VDDR2A" RELATED [MONDO:Lexical, OMIM:277440] +synonym: "VDR vitamin D-dependent rickets, type 2" EXACT [MONDO:design_pattern] synonym: "Vitamin D dependent rickets 2a" EXACT [NCIT:C131075] synonym: "Vitamin D receptor deficiency rickets" EXACT [NCIT:C131075] synonym: "vitamin d-dependent rickets type ii with alopecia" EXACT [MONDO:cjm] +synonym: "vitamin D-dependent rickets, type 2 caused by mutation in VDR" EXACT [MONDO:design_pattern] synonym: "vitamin D-dependent rickets, type 2A" EXACT [MONDO:Lexical, OMIM:277440] synonym: "Vitamin D-dependent rickets, type 2A, with or without alopecia" RELATED [OMIM:277440] synonym: "VITAMIN D-dependent rickets, type 2A; VDDR2A" RELATED [OMIM:277440] @@ -194624,7 +196455,7 @@ xref: Orphanet:93160 {source="OMIM:277440", source="MONDO:subClassOf"} xref: SCTID:237894002 {source="MONDO:kboom-pr-0.76/0.38/0.68", source="MONDO:equivalentTo"} xref: UMLS:C0268690 {source="OMIM:277440", source="NCBI:mim2gene_medline"} xref: UMLS:C0342646 {source="OMIM:277440", source="NCIT:C131075", source="MONDO:equivalentTo"} -is_a: MONDO:0005520 {source="DC-OMIM:277440", source="MONDO:Redundant", source="NCIT:C131075", source="linkedlifedata"} ! rickets (disease) +is_a: MONDO:0005520 {source="DC-OMIM:277440", source="MONDO:Redundant", source="NCIT:C131075", source="linkedlifedata", source="linkedlifedata/inferred"} ! rickets (disease) is_a: MONDO:0019642 {source="MONDO:cjm", source="MONDOLEX:0010186", source="linkedlifedata"} ! vitamin D-dependent rickets, type 2 intersection_of: MONDO:0019642 ! vitamin D-dependent rickets, type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12679 ! VDR @@ -194638,9 +196469,11 @@ name: vitamin K-dependent clotting factors, combined deficiency of, type 1 def: "Combined vitamin K-dependent clotting factors deficiency (VKCFD) is a congenital bleeding disorder resulting from variably decreased levels of coagulation factors II, VII, IX and X, as well as natural anticoagulants protein C, protein S and protein Z." [Orphanet:98434] subset: ordo_disease {source="Orphanet:98434"} subset: prototype_pattern -synonym: "factors Ii, Vii, Ix, and X, combined deficiency of" RELATED [OMIM:277450] +synonym: "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in GGCX" EXACT [MONDO:design_pattern] +synonym: "factors II, Vii, Ix, and X, combined deficiency of" RELATED [OMIM:277450] synonym: "familial multiple coagulation Factor deficiency 3" RELATED [OMIM:277450] synonym: "Fmfd 3" RELATED [OMIM:277450] +synonym: "GGCX congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [MONDO:design_pattern] synonym: "glutamic acid, deficient gamma-carboxylation of" RELATED [OMIM:277450] synonym: "hereditary combined deficiency of factors II, VII, IX and X" EXACT [Orphanet:98434] synonym: "hereditary combined deficiency of vitamin K-dependent clotting factors" RELATED [Orphanet:98434] @@ -194720,9 +196553,11 @@ subset: gard_rare synonym: "microcephaly pontocerebellar hypoplasia dyskinesia" RELATED [GARD:0003631] synonym: "Pch2" RELATED [OMIM:277470] synonym: "PCH2A" RELATED [MONDO:Lexical, OMIM:277470] +synonym: "pontocerebellar hypoplasia type 2 caused by mutation in TSEN54" EXACT [MONDO:design_pattern] synonym: "pontocerebellar hypoplasia with progressive cerebral atrophy" RELATED [OMIM:277470] synonym: "pontocerebellar hypoplasia, type 2A" RELATED [MONDO:Lexical, OMIM:277470] synonym: "pontocerebellar hypoplasia, type 2A; PCH2A" RELATED [OMIM:277470] +synonym: "TSEN54 pontocerebellar hypoplasia type 2" EXACT [MONDO:design_pattern] synonym: "Volendam neurodegenerative disease" RELATED [OMIM:277470] xref: DOID:0060267 {source="MONDO:equivalentTo"} xref: GARD:0003631 {source="MONDO:equivalentTo"} @@ -194732,7 +196567,7 @@ xref: Orphanet:2524 {source="OMIM:277470", source="DOID:0060267", source="MONDO: xref: UMLS:C1848526 {source="NCBI:mim2gene_medline", source="OMIM:277470", source="DOID:0060267"} xref: UMLS:C2931528 {source="GARD:0003631"} is_a: MONDO:0016759 {source="MONDOLEX:0010190", source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2 -is_a: MONDO:0020135 {source="MONDO:Redundant", source="OMIM:277470"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0060267", source="MONDO:Redundant", source="OMIM:277470"} ! non-syndromic pontocerebellar hypoplasia intersection_of: MONDO:0016759 ! pontocerebellar hypoplasia type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/27561 ! TSEN54 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/27561 {source="mim2gene_medgen"} ! TSEN54 @@ -194764,7 +196599,7 @@ xref: SCTID:128108002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:eq xref: UMLS:C1264041 {source="DOID:0111054", source="Orphanet:166096", source="ORDO:166096/e", source="OMIM:277480", source="NCIT:C85213", source="MONDO:equivalentTo"} xref: UMLS:C1848525 {source="NCBI:mim2gene_medline"} is_a: MONDO:0019565 {source="DC-OMIM:277480", source="DOID:0111054", source="MESH:D056729", source="MONDOLEX:0010191", source="NCIT:C85213", source="Orphanet:166096", source="linkedlifedata"} ! hereditary von Willebrand disease -is_a: MONDO:0024574 {source="NCIT:C85213"} ! von Willebrand disease (hereditary or acquired) +is_a: MONDO:0024574 {source="MESH:D056729", source="NCIT:C85213", source="linkedlifedata"} ! von Willebrand disease (hereditary or acquired) relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12726 {source="mim2gene_medgen"} ! VWF property_value: confidence "3.801097393689986" xsd:double @@ -194772,7 +196607,9 @@ property_value: confidence "3.801097393689986" xsd:double id: MONDO:0010192 name: Waardenburg syndrome type 4A def: "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDNRB." [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4] +synonym: "EDNRB Waardenburg syndrome" EXACT [MONDO:design_pattern] synonym: "Shah-Waardenburg syndrome" RELATED [OMIM:277580] +synonym: "Waardenburg syndrome caused by mutation in EDNRB" EXACT [MONDO:design_pattern] synonym: "Waardenburg syndrome type IVA" EXACT [DOID:0110953] synonym: "Waardenburg syndrome with Hirschsprung disease type 4A" EXACT [DOID:0110953] synonym: "Waardenburg syndrome with Hirschsprung disease, type 4A" RELATED [OMIM:277580] @@ -194827,7 +196664,7 @@ xref: SCTID:63119004 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equ xref: UMLS:C0220765 {source="OMIM:277590", source="DOID:14731"} xref: UMLS:C0265210 {source="NCBI:mim2gene_medline", source="NCIT:C125599", source="OMIM:277590", source="Orphanet:3447", source="MONDO:equivalentTo", source="ORDO:3447/e"} xref: UMLS:CN036342 {source="MONDO:equivalentTo"} -is_a: MONDO:0000839 {source="DOID:14731"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:14731"} ! congenital abnormality is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C125599"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:3447"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:3447"} ! rare syndromic intellectual disability @@ -194840,10 +196677,12 @@ property_value: confidence "5.666666666666667" xsd:double id: MONDO:0010194 name: Weill-Marchesani syndrome 1 def: "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the ADAMTS10 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ADAMTS10 Weill-Marchesani syndrome" EXACT [MONDO:design_pattern] synonym: "mesodermal Dysmorphodystrophy, congenital" RELATED [OMIM:277600] synonym: "spherophakia-brachymorphia syndrome" RELATED [OMIM:277600] synonym: "Weill-Marchesani syndrome 1" EXACT [MONDO:Lexical, OMIM:277600] synonym: "Weill-Marchesani syndrome 1; WMS1" RELATED [OMIM:277600] +synonym: "Weill-Marchesani syndrome caused by mutation in ADAMTS10" EXACT [MONDO:design_pattern] synonym: "Weill-Marchesani syndrome type 1" EXACT [MONDORULE:1, OMIM:277600] synonym: "Weill-Marchesani syndrome, autosomal recessive" RELATED [OMIM:277600] synonym: "WMS1" RELATED [MONDO:Lexical, OMIM:277600] @@ -194978,7 +196817,7 @@ xref: SCTID:69482004 {source="EFO:1001242", source="DOID:10915", source="MONDO:k xref: UMLS:C0349464 {source="NCBI:mim2gene_medline", source="DOID:10915", source="NCIT:C35764", source="OMIM:277730"} xref: UMLS:C2931918 {source="OMIM:277730"} is_a: MONDO:0002254 {source="MONDOLEX:0010198", source="NCIT:C35764"} ! syndromic disease -is_a: MONDO:0006873 {source="DOID:10915", source="linkedlifedata"} ! nutritional deficiency disease +is_a: MONDO:0006873 {source="DOID:10915", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6843/wernicke-korsakoff-syndrome xsd:anyURI {source="GARD:0006843"} [Term] @@ -195126,7 +196965,7 @@ xref: UMLS:C0043208 {source="NCBI:mim2gene_medline", source="OMIM:278000", sourc xref: UMLS:C1416865 {source="OMIM:278000"} xref: UMLS:C2936797 {source="Orphanet:275761"} is_a: MONDO:0015905 {source="Orphanet:275761"} ! syndromic dyslipidemia -is_a: MONDO:0019245 {source="DOID:0080217", source="Orphanet:275761"} ! lysosomal lipid storage disorder +is_a: MONDO:0019245 {source="DOID:0080217", source="MESH:C531854/inferred", source="Orphanet:275761"} ! lysosomal lipid storage disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6617 {source="mim2gene_medgen"} ! LIPA relationship: excluded_subClassOf MONDO:0019148 {source="MESH:C531854"} ! Wolman disease property_value: confidence "3.6875" xsd:double @@ -195139,7 +196978,7 @@ xref: MESH:C564736 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:278100 {source="MONDO:equivalentTo"} xref: UMLS:C1848436 {source="OMIM:278100", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="MESH:C564736/inferred"} ! inherited genetic disease -is_a: MONDO:0019148 {source="MONDO:cjm", source="MONDOLEX:0010205"} ! Wolman disease +is_a: MONDO:0019148 {source="MESH:C564736", source="MONDO:cjm", source="MONDOLEX:0010205"} ! Wolman disease [Term] id: MONDO:0010206 @@ -195147,11 +196986,13 @@ name: hypotrichosis 8 def: "Any hypotrichosis in which the cause of the disease is a mutation in the LPAR6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "hypotrichosis 8" EXACT [MONDO:Lexical, OMIM:278150] synonym: "hypotrichosis 8; HYPT8" RELATED [OMIM:278150] +synonym: "hypotrichosis caused by mutation in LPAR6" EXACT [MONDO:design_pattern] synonym: "hypotrichosis type 8" EXACT [DOID:0110705, MONDORULE:1, OMIM:278150] synonym: "hypotrichosis, localized, autosomal recessive 3" EXACT [DOID:0110705, OMIM:278150] synonym: "HYPT8" RELATED [MONDO:Lexical, OMIM:278150] synonym: "Hypt8" EXACT [DOID:0110705] synonym: "Lah3" EXACT [DOID:0110705] +synonym: "LPAR6 hypotrichosis" EXACT [MONDO:design_pattern] synonym: "woolly hair, autosomal recessive 1, with or without hypotrichosis" RELATED [OMIM:278150] xref: DOID:0110705 {source="MONDO:equivalentTo"} xref: MESH:C566950 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -195160,7 +197001,7 @@ xref: Orphanet:170 {source="OMIM:278150", source="MONDO:subClassOf"} xref: Orphanet:55654 {source="OMIM:278150", source="MONDO:subClassOf"} xref: UMLS:C1848435 {source="NCBI:mim2gene_medline", source="OMIM:278150"} xref: UMLS:C3279470 {source="OMIM:278150", source="MONDO:equivalentTo"} -is_a: MONDO:0003037 {source="MESH:C566950", source="MONDO:Redundant", source="OMIM:278150"} ! hypotrichosis +is_a: MONDO:0003037 {source="DOID:0110705", source="MESH:C566950", source="MONDO:Redundant", source="OMIM:278150"} ! hypotrichosis is_a: MONDO:0008686 {source="ORDO:170/btnt"} ! woolly hair (disease) is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis @@ -195238,7 +197079,7 @@ xref: Orphanet:93601 {source="OMIM:278300", source="MONDO:equivalentTo"} xref: SCTID:72682008 {source="MONDO:equivalentTo"} xref: UMLS:C0268118 {source="NCBI:mim2gene_medline", source="OMIM:278300", source="Orphanet:93601"} is_a: MONDO:0000721 {source="MONDO:Redundant", source="OMIM:278300"} ! xanthinuria -is_a: MONDO:0018106 {source="MONDO:Entailed", source="MONDOLEX:0010209", source="Orphanet:93601"} ! hereditary xanthinuria +is_a: MONDO:0018106 {source="MONDO:Entailed", source="MONDOLEX:0010209", source="Orphanet:93601", source="linkedlifedata"} ! hereditary xanthinuria is_a: MONDO:0019052 {source="MESH:C562584", source="MONDO:Redundant", source="Orphanet:93601/inferred"} ! inborn errors of metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12805 {source="mim2gene_medgen"} ! XDH property_value: confidence "19.999999999999982" xsd:double @@ -195250,6 +197091,7 @@ def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation subset: gard_rare synonym: "xeroderma pigmentosum 1" EXACT [DOID:0110843] synonym: "xeroderma pigmentosum 1" RELATED [OMIM:278700] +synonym: "xeroderma pigmentosum caused by mutation in XPA" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum complementation group A" EXACT [DOID:0110843] synonym: "xeroderma pigmentosum group type A" EXACT [DOID:0110843, MONDORULE:1] synonym: "xeroderma pigmentosum, complementation group A" RELATED [MONDO:Lexical, OMIM:278700] @@ -195261,6 +197103,7 @@ synonym: "Xp, group A" RELATED [OMIM:278700] synonym: "Xp-A" EXACT [NCIT:C3965] synonym: "XP1" EXACT [DOID:0110843] synonym: "XPA" EXACT [DOID:0110843, MONDO:Lexical, OMIM:278700] +synonym: "XPA xeroderma pigmentosum" EXACT [MONDO:design_pattern] xref: DOID:0110843 {source="MONDO:equivalentTo"} xref: GARD:0005624 {source="MONDO:equivalentTo"} xref: ICD10:Q82.1 {source="DOID:0110843", source="MONDO:subClassOf"} @@ -195312,7 +197155,9 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12 id: MONDO:0010212 name: xeroderma pigmentosum group D def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ERCC2 xeroderma pigmentosum" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum 4" RELATED [OMIM:278730] +synonym: "xeroderma pigmentosum caused by mutation in ERCC2" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum group type D" EXACT [DOID:0110845, MONDORULE:1] synonym: "xeroderma pigmentosum IV" EXACT [DOID:0110845] synonym: "xeroderma pigmentosum VIII" EXACT [DOID:0110845] @@ -195417,7 +197262,9 @@ id: MONDO:0010215 name: xeroderma pigmentosum group F def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC4 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare +synonym: "ERCC4 xeroderma pigmentosum" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum 6" RELATED [OMIM:278760] +synonym: "xeroderma pigmentosum caused by mutation in ERCC4" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum group type F" EXACT [DOID:0110848, MONDORULE:1] synonym: "xeroderma pigmentosum VI" EXACT [DOID:0110848] synonym: "xeroderma pigmentosum, complementation group F" RELATED [MONDO:Lexical, OMIM:278760] @@ -195454,7 +197301,9 @@ id: MONDO:0010216 name: xeroderma pigmentosum group G def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC5 gene." [MONDO:patterns/disease_series_by_gene] comment: placement based on OMIM phenotypic series 214150. {source="OMIM:278780"} +synonym: "ERCC5 xeroderma pigmentosum" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum 7" RELATED [OMIM:278780] +synonym: "xeroderma pigmentosum caused by mutation in ERCC5" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum complementation group G" RELATED [GARD:0005629] synonym: "xeroderma pigmentosum group type G" EXACT [DOID:0110849, MONDORULE:1] synonym: "xeroderma pigmentosum type 7" RELATED [GARD:0005629] @@ -195485,7 +197334,7 @@ xref: UMLS:C1851443 {source="MONDO:directSiblingOf", source="OMIM:278780"} xref: UMLS:C1968561 {source="OMIM:278780"} is_a: MONDO:0008926 {source="DC-OMIM:278780"} ! COFS syndrome is_a: MONDO:0016354 {source="ORDO:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex -is_a: MONDO:0019600 {source="DC-OMIM:278780", source="DOID:0110849", source="MONDO:Entailed", source="NCIT:C3969", source="linkedlifedata"} ! xeroderma pigmentosum +is_a: MONDO:0019600 {source="DC-OMIM:278780", source="DOID:0110849", source="MESH:C562593", source="MONDO:Entailed", source="NCIT:C3969", source="linkedlifedata"} ! xeroderma pigmentosum intersection_of: MONDO:0019600 ! xeroderma pigmentosum intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3437 ! ERCC5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3437 {source="mim2gene_medgen"} ! ERCC5 @@ -195508,7 +197357,7 @@ xref: SCTID:414673004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0265201 {source="NCBI:mim2gene_medline", source="NCIT:C84666", source="MONDO:equivalentTo", source="OMIM:278800"} xref: UMLS:CN199649 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0010217", source="NCIT:C84666"} ! syndromic disease -is_a: MONDO:0003847 {source="MESH:C535992/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C535992/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3438 {source="mim2gene_medgen"} ! ERCC6 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8276/de-sanctis-cacchione-syndrome xsd:anyURI {source="GARD:0008276"} @@ -195673,7 +197522,9 @@ id: MONDO:0010225 name: Dent disease type 1 def: "Dent disease type 1 is a type of Dent disease (see this term) with predominantly renal manifestations." [Orphanet:93622] subset: ordo_clinical_subtype {source="Orphanet:93622"} +synonym: "CLCN5 Dent disease" EXACT [MONDO:design_pattern] synonym: "DENT disease 1" RELATED [OMIM:300009] +synonym: "Dent disease caused by mutation in CLCN5" EXACT [MONDO:design_pattern] synonym: "Dent disease type 1" EXACT [MONDORULE:1, OMIM:300009] synonym: "nephrolithiasis 2" RELATED [OMIM:300009] synonym: "nephrolithiasis type 1" EXACT [Orphanet:93622] @@ -195726,8 +197577,10 @@ synonym: "cone-Rod Degeneration, X-linked" RELATED [OMIM:300029] synonym: "retinitis pigmentosa 15" RELATED [OMIM:300029] synonym: "retinitis pigmentosa 3" EXACT [MONDO:Lexical, OMIM:300029] synonym: "retinitis pigmentosa 3; RP3" RELATED [OMIM:300029] +synonym: "retinitis pigmentosa caused by mutation in RPGR" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 3" EXACT [DOID:0110414, MONDORULE:1, OMIM:300029] synonym: "RP3" EXACT [DOID:0110414, MONDO:Lexical, OMIM:300029] +synonym: "RPGR retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110414 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110414", source="MONDO:relatedTo"} xref: MESH:C564520 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -195935,7 +197788,7 @@ synonym: "Hyde Forster-McCarthy-Berry syndrome" EXACT [Orphanet:2898] synonym: "mental retardation, plagiocephaly, brachycephaly, prominent forehead, and coarse facial features" RELATED [GARD:0004377] synonym: "mental retardation, X-linked Hyde-Forster type" RELATED [GARD:0004377] synonym: "mental retardation, X-linked, Hyde-Forster type" RELATED [OMIM:300064] -synonym: "mental retardation, X-linked, with craniofacial DYSMORPHISM" RELATED [OMIM:300064] +synonym: "mental retardation, X-linked, with craniofacial dysmorphism" RELATED [OMIM:300064] synonym: "plagiocephaly and X-linked mental retardation" RELATED [GARD:0004377] xref: GARD:0002765 {source="Orphanet-shared", source="MONDO:equivalentTo"} xref: GARD:0004377 {source="MONDO:equivalentTo"} @@ -195961,6 +197814,8 @@ synonym: "deafness, X-linked 4; DFNX4" RELATED [OMIM:300066] synonym: "deafness, X-linked 6, progressive" RELATED [OMIM:300066] synonym: "deafness, X-linked type 4" EXACT [MONDORULE:1, OMIM:300066] synonym: "DFNX4" RELATED [MONDO:Lexical, OMIM:300066] +synonym: "SMPX X-linked nonsyndromic deafness" EXACT [MONDO:design_pattern] +synonym: "X-linked nonsyndromic deafness caused by mutation in SMPX" EXACT [MONDO:design_pattern] xref: MESH:C564723 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:300066 {source="MONDO:equivalentTo"} xref: Orphanet:90625 {source="OMIM:300066", source="MONDO:subClassOf"} @@ -196005,7 +197860,7 @@ xref: UMLS:C1848200 {source="OMIM:300067"} xref: UMLS:C1848201 {source="OMIM:300067", source="MONDO:subClassOf"} xref: UMLS:C4275012 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015146 {source="MONDOLEX:0010239", source="Orphanet:2148"} ! classic lissencephaly -is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:300067", source="Orphanet:2148/inferred", source="linkedlifedata"} ! lissencephaly (disease) +is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:300067", source="Orphanet:2148/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lissencephaly (disease) is_a: MONDO:0020119 {source="Orphanet:2148"} ! X-linked syndromic intellectual disability is_a: MONDO:0020491 {source="MONDOLEX:0010239"} ! subcortical band heterotopia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2714 {source="mim2gene_medgen"} ! DCX @@ -196022,7 +197877,9 @@ replaced_by: MONDO:0019154 id: MONDO:0010241 name: congenital stationary night blindness 2A def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the CACNA1F gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CACNA1F congenital stationary night blindness" EXACT [MONDO:design_pattern] synonym: "congenital stationary night blindness 2A X-linked" EXACT [DOID:0110871] +synonym: "congenital stationary night blindness caused by mutation in CACNA1F" EXACT [MONDO:design_pattern] synonym: "congenital stationary night blindness type 2A" EXACT [DOID:0110871, MONDORULE:4] synonym: "CSNB, incomplete, X-linked" EXACT [OMIM:300071] synonym: "CSNB2A" RELATED [MONDO:Lexical, OMIM:300071] @@ -196115,6 +197972,7 @@ id: MONDO:0010246 name: early infantile epileptic encephalopathy 9 def: "Female restricted epilepsy with intellectual disability is a rare X-linked epilepsy syndrome characterized by febrile or afebrile seizures (mainly tonic-clonic, but also absence, myoclonic, and atonic) starting in the first years of life and, in most cases, developmental delay and intellectual disability of variable severity. Behavioral disturbances (e.g. autistic features, hyperactivity, and aggressiveness) are also frequently associated. This disease affects exclusively females, with male carriers being unaffected, despite an X-linked inheritance." [Orphanet:101039] subset: ordo_disease {source="Orphanet:101039"} +synonym: "early infantile epileptic encephalopathy caused by mutation in PCDH19" EXACT [MONDO:design_pattern] synonym: "early infantile epileptic encephalopathy type 9" EXACT [DOID:0060848, MONDORULE:1] synonym: "early infantile female-limited epilecptic encephalopathy" EXACT [DOID:0060848] synonym: "EFMR" EXACT [DOID:0060848, Orphanet:101039] @@ -196131,6 +197989,7 @@ synonym: "female restricted epilepsy with intellectual disability" RELATED [Orph synonym: "female restricted epilepsy with mental retardation" EXACT [DOID:0060848] synonym: "Juberg Hellman syndrome" EXACT [DOID:0060848] synonym: "Juberg-Hellman syndrome" EXACT [OMIM:300088, Orphanet:101039] +synonym: "PCDH19 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] synonym: "PCDH19-related female-limited epilepsy" RELATED [GARD:0010806] synonym: "PCDH19-related FLE" RELATED [GARD:0010806] synonym: "PCDH19-related infantile epileptic encephalopathy" RELATED [GARD:0010806] @@ -196299,11 +198158,13 @@ is_a: MONDO:0005147 {source="DC-OMIM:300136", source="MONDOLEX:0010255", source= id: MONDO:0010256 name: intellectual disability, X-linked 21 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the IL1RAPL1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "IL1RAPL1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, X-linked 21" RELATED [MONDO:Lexical, OMIM:300143] synonym: "mental retardation, X-linked 21; MRX21" RELATED [OMIM:300143] synonym: "mental retardation, X-linked 34" RELATED [OMIM:300143] synonym: "mental retardation, X-linked type 21" EXACT [MONDORULE:2, OMIM:300143] synonym: "MRX21" RELATED [MONDO:Lexical, OMIM:300143] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in IL1RAPL1" EXACT [MONDO:design_pattern] xref: OMIM:300143 {source="MONDO:equivalentTo"} xref: UMLS:C0796227 {source="NCBI:mim2gene_medline", source="OMIM:300143"} xref: UMLS:C0796241 {source="OMIM:300143"} @@ -196404,7 +198265,7 @@ synonym: "microphthalmia, cataracts, radiculomegaly, and septal heart defects" R synonym: "microphthalmia, syndromic 2" EXACT [MONDO:Lexical, OMIM:300166] synonym: "microphthalmia, syndromic 2; MCOPS2" RELATED [OMIM:300166] synonym: "microphthalmia, syndromic type 2" EXACT [MONDORULE:1, OMIM:300166] -synonym: "Oculofaciocardiodental syndrome" RELATED [OMIM:300166] +synonym: "oculofaciocardiodental syndrome" RELATED [OMIM:300166] synonym: "Ofcd syndrome" RELATED [OMIM:300166] xref: OMIM:300166 {source="MONDO:equivalentTo"} xref: Orphanet:2712 {source="OMIM:300166", source="MONDO:directSiblingOf", source="MONDO:superClassOf"} @@ -196481,7 +198342,7 @@ xref: UMLS:C0220766 {source="OMIM:300200", source="Orphanet:95702"} xref: UMLS:C0342482 {source="NCIT:C123725", source="NCBI:mim2gene_medline", source="Orphanet:95702", source="MONDO:equivalentTo"} xref: UMLS:C1846220 {source="OMIM:300200"} xref: UMLS:C2749175 {source="OMIM:300200"} -is_a: MONDO:0000004 {source="DC-OMIM:300200", source="DOID:0080156", source="MONDO:Redundant"} ! adrenocortical insufficiency +is_a: MONDO:0000004 {source="DC-OMIM:300200", source="DOID:0080156", source="MONDO:Redundant", source="linkedlifedata"} ! adrenocortical insufficiency is_a: MONDO:0015129 {source="Orphanet:95702", source="Orphanet:95702/inferred"} ! chronic primary adrenal insufficiency is_a: MONDO:0015891 {source="Orphanet:95702"} ! hypogonadotropic hypogonadism associated with other endocrinopathies is_a: MONDO:0015971 {source="MONDO:Entailed", source="Orphanet:95702", source="Orphanet:95702/inferred"} ! rare genetic adrenal disease @@ -196495,8 +198356,10 @@ name: Simpson-Golabi-Behmel syndrome type 2 def: "Simpson-Golabi-Behmel syndrome (SGBS) type 2 is an extremely rare and severe, early-lethal form of SGBS, an overgrowth-multiple anomalies syndrome, characterized by hydrops fetalis, macrocephaly, facial dysmorphism (hypertelorism, low-set, posteriorly angulated ears, short and broad nose with anteverted nares, prominent philtrum, large mouth with thin upper vermilion border, high-arched and cleft palate), short neck, redundant skin, skeletal defects (involving upper and lower limbs), hypoplastic nails, gastrointestinal and genitourinary anomalies, hypotonia and neurologic impairment. Severe intellectual disability, obesity and infections (pneumonia, sepsis) have been reported." [Orphanet:79022] subset: ordo_malformation_syndrome {source="Orphanet:79022"} synonym: "lethal variant of Simpson-Golabi-Behmel syndrome" EXACT [Orphanet:79022] +synonym: "OFD1 Simpson-Golabi-Behmel syndrome" EXACT [MONDO:design_pattern] synonym: "SGBS2" EXACT [Orphanet:79022] synonym: "Sgbs2" RELATED [OMIM:300209] +synonym: "Simpson-Golabi-Behmel syndrome caused by mutation in OFD1" EXACT [MONDO:design_pattern] synonym: "Simpson-Golabi-Behmel syndrome, type 2" RELATED [OMIM:300209] synonym: "Simpson-Golabi-Behmel syndrome, type 2; SGBS2" RELATED [OMIM:300209] xref: ICD10:Q87.3 {source="ORDO:79022/ntbt", source="Orphanet:79022", source="ORDO:79022/attributed"} @@ -196518,6 +198381,8 @@ synonym: "mental retardation, X-linked 58" RELATED [MONDO:Lexical, OMIM:300210] synonym: "mental retardation, X-linked 58; MRX58" RELATED [OMIM:300210] synonym: "mental retardation, X-linked type 58" EXACT [MONDORULE:2, OMIM:300210] synonym: "MRX58" RELATED [MONDO:Lexical, OMIM:300210] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in TSPAN7" EXACT [MONDO:design_pattern] +synonym: "TSPAN7 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] xref: MESH:C564566 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:300210 {source="MONDO:equivalentTo"} xref: UMLS:C1846174 {source="OMIM:300210", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -196536,7 +198401,7 @@ synonym: "episodic muscle weakness, X-linked; EMWX" RELATED [OMIM:300211] xref: MESH:C564565 {source="MONDO:equivalentTo"} xref: OMIM:300211 {source="MONDO:equivalentTo"} xref: UMLS:C1846173 {source="OMIM:300211", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C564565/inferred"} ! inherited genetic disease [Term] id: MONDO:0010268 @@ -196855,13 +198720,13 @@ synonym: "Antopol disease" RELATED [OMIM:300257] synonym: "Danon disease" EXACT [OMIM:300257, Orphanet:34587] synonym: "glycogen storage cardiomyopathy" RELATED [GARD:0009730] synonym: "glycogen storage disease due to LAMP-2 deficiency" RELATED [Orphanet:34587] -synonym: "glycogen storage disease Iib" RELATED [OMIM:300257] +synonym: "glycogen storage disease IIb" RELATED [OMIM:300257] synonym: "glycogen storage disease limited to the heart" RELATED [GARD:0009730] synonym: "glycogen storage disease type 2b (formerly)" RELATED [GARD:0009730] synonym: "glycogenosis due to LAMP-2 deficiency" EXACT [Orphanet:34587] synonym: "GSD due to LAMP-2 deficiency" EXACT [Orphanet:34587] -synonym: "GSD Iib" RELATED [OMIM:300257] -synonym: "GSD Iib, formerly" RELATED [OMIM:300257] +synonym: "GSD IIb" RELATED [OMIM:300257] +synonym: "GSD IIb, formerly" RELATED [OMIM:300257] synonym: "GSD2B (formerly)" RELATED [GARD:0009730] synonym: "lysosomal glycogen storage disease with normal acid maltase activity" EXACT [Orphanet:34587] synonym: "lysosomal glycogen storage disease without acid maltase deficiency" RELATED [OMIM:300257] @@ -196882,13 +198747,13 @@ xref: OMIM:300257 {source="DOID:0050437", source="ORDO:34587/e", source="MONDO:e xref: Orphanet:34587 {source="OMIM:300257", source="MONDO:equivalentTo"} xref: SCTID:419097006 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:0050437", source="MONDO:equivalentTo"} xref: UMLS:C0878677 {source="NCBI:mim2gene_medline", source="OMIM:300257", source="MEDGEN:kboom-pr98-c99", source="DOID:0050437", source="MONDO:equivalentTo", source="Orphanet:34587"} -is_a: MONDO:0002412 {source="MESH:D052120", source="Orphanet:34587", source="linkedlifedata"} ! glycogen storage disease -is_a: MONDO:0009290 {source="MONDOLEX:0010281", source="NCIT:C84735"} ! glycogen storage disease II +is_a: MONDO:0002412 {source="MESH:D052120", source="NCIT:C84735/inferred", source="Orphanet:34587", source="linkedlifedata"} ! glycogen storage disease is_a: MONDO:0015920 {source="Orphanet:34587"} ! syndromic neurometabolic disease with X-linked intellectual disability is_a: MONDO:0016118 {source="Orphanet:34587"} ! muscular glycogenosis is_a: MONDO:0016325 {source="Orphanet:34587"} ! glycogen storage disease with hypertrophic cardiomyopathy is_a: MONDO:0017738 {source="Orphanet:34587"} ! lysosomal glycogen storage disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6501 {source="mim2gene_medgen"} ! LAMP2 +relationship: excluded_subClassOf MONDO:0009290 {source="NCIT:C84735"} ! glycogen storage disease II property_value: confidence "3.722222222222223" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9730/danon-disease xsd:anyURI {source="GARD:0009730"} @@ -197043,7 +198908,7 @@ xref: OMIM:300266 {source="ORDO:100997/e", source="DOID:0110769", source="MONDO: xref: Orphanet:100997 {source="OMIM:300266", source="DOID:0110769", source="MONDO:equivalentTo"} xref: UMLS:C1846046 {source="OMIM:300266", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="ORDO:100997/e", source="MONDO:equivalentTo", source="Orphanet:100997"} is_a: MONDO:0017916 {source="Orphanet:100997"} ! pure or complex X-linked spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:300266", source="Orphanet:100997/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110769", source="MESH:C536643", source="MONDO:Redundant", source="OMIM:300266", source="Orphanet:100997/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.61111111111111" xsd:double [Term] @@ -197188,7 +199053,7 @@ is_a: MONDO:0016229 {source="MONDO:Redundant", source="Orphanet:69088", source=" is_a: MONDO:0017198 {source="MONDOLEX:0010295", source="Orphanet:69088", source="linkedlifedata"} ! osteopetrosis (disease) is_a: MONDO:0018035 {source="Orphanet:69088"} ! syndrome with combined immunodeficiency is_a: MONDO:0018722 {source="Orphanet:69088"} ! primary lymphedema with associated anomalies -is_a: MONDO:0019287 {source="MONDOLEX:0010295", source="Orphanet:69088", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MESH:C564538", source="MONDOLEX:0010295", source="Orphanet:69088", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0019520 {source="MONDO:Entailed", source="Orphanet:69088"} ! syndromic lymphedema relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5961 {source="mim2gene_medgen"} ! IKBKG property_value: confidence "3.666666666666667" xsd:double @@ -197208,7 +199073,7 @@ xref: Orphanet:229717 {source="OMIM:300310", source="MONDO:subClassOf"} xref: Orphanet:47 {source="OMIM:300310", source="MONDO:subClassOf"} xref: UMLS:C1845903 {source="OMIM:300310", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0010421 {source="ORDO:47/btnt"} ! Bruton-type agammaglobulinemia -is_a: MONDO:0015977 {source="MONDO:Redundant", source="OMIM:300310"} ! agammaglobulinemia +is_a: MONDO:0015977 {source="MESH:C538057", source="MONDO:Redundant", source="OMIM:300310"} ! agammaglobulinemia property_value: confidence "1.0498438571428572" xsd:double [Term] @@ -197218,8 +199083,10 @@ def: "Any FG syndrome in which the cause of the disease is a mutation in the FLN subset: gard_rare {source="GARD:0009923"} synonym: "FG syndrome 2" EXACT [MONDO:Lexical, OMIM:300321] synonym: "FG syndrome 2; FGS2" RELATED [OMIM:300321] +synonym: "FG syndrome caused by mutation in FLNA" EXACT [MONDO:design_pattern] synonym: "FG syndrome type 2" EXACT [MONDORULE:1, OMIM:300321] synonym: "FGS2" RELATED [GARD:0009923, MONDO:Lexical, OMIM:300321] +synonym: "FLNA FG syndrome" EXACT [MONDO:design_pattern] xref: GARD:0009923 {source="MONDO:equivalentTo"} xref: OMIM:300321 {source="GARD:0009923", source="MONDO:equivalentTo"} xref: Orphanet:323 {source="OMIM:300321", source="MONDO:subClassOf"} @@ -197249,6 +199116,7 @@ synonym: "hypoxanthine guanine phosphoribosyltransferase 1 deficiency" RELATED [ synonym: "hypoxanthine guanine phosphoribosyltransferase complete deficiency" EXACT [Orphanet:510] synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency" BROAD [CSP2005:1849-8105, DOID:1919] synonym: "hypoxanthine guanine phosphoribosyltransferase deficiency, grade IV" EXACT [Orphanet:510] +synonym: "Hypoxanthine-guanine phosphoribosyltransferase deficiency" EXACT [DOID:1919] synonym: "hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder)" BROAD [DOID:1919, SCTID:267451005] synonym: "hypoxanthine-guanine phosphoribosyltransferase deficiency (disorder) [ambiguous]" BROAD [DOID:1919, SCTID:90924007] synonym: "hypoxanthine-guanine-phosphoribosyltransferase deficiency" EXACT [DOID:1919] @@ -197373,7 +199241,7 @@ xref: UMLS:C0022283 {source="NCBI:mim2gene_medline", source="MONDO:relatedTo", s xref: UMLS:C1415618 {source="OMIM:300337"} is_a: MONDO:0015651 {source="Orphanet:435"} ! neurocutaneous syndrome with epilepsy is_a: MONDO:0019287 {source="Orphanet:435"} ! ectodermal dysplasia syndrome -is_a: MONDO:0019290 {source="Orphanet:435"} ! hypopigmentation of the skin (disease) +is_a: MONDO:0019290 {source="OMIM:300337", source="Orphanet:435"} ! hypopigmentation of the skin (disease) is_a: MONDO:0020276 {source="Orphanet:435"} ! pigmentation disorder with eye involvement, excluding albinism property_value: confidence "4.3125" xsd:double @@ -197496,7 +199364,7 @@ xref: SCTID:719811001 {source="MONDO:kboom-pr-1.00/0.74/6.27", source="MONDO:equ xref: UMLS:C1845845 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:C1845861 {source="MEDGEN:kboom-pr92-c94", source="OMIM:300354", source="NCBI:mim2gene_medline", source="Orphanet:85293", source="MONDO:equivalentTo"} is_a: MONDO:0015159 {source="Orphanet:85293"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability -is_a: MONDO:0020119 {source="DC-OMIM:300354", source="OMIM:300354", source="Orphanet:85293"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DC-OMIM:300354", source="DOID:0060822", source="OMIM:300354", source="Orphanet:85293"} ! X-linked syndromic intellectual disability relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2555 {source="mim2gene_medgen"} ! CUL4B property_value: confidence "0.3333333333333335" xsd:double @@ -197620,12 +199488,14 @@ is_a: MONDO:0003847 {source="MESH:C564523/inferred"} ! inherited genetic disease id: MONDO:0010313 name: intellectual disability, X-linked 63 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ACSL4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ACSL4 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] synonym: "ACSL4-related intellectual disability" RELATED [GARD:0005613] synonym: "mental retardation, X-linked 63" RELATED [MONDO:Lexical, OMIM:300387] synonym: "mental retardation, X-linked 63; MRX63" RELATED [OMIM:300387] synonym: "mental retardation, X-linked 68" RELATED [OMIM:300387] synonym: "mental retardation, X-linked type 63" EXACT [MONDORULE:2, OMIM:300387] synonym: "MRX63" RELATED [MONDO:Lexical, OMIM:300387] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in ACSL4" EXACT [MONDO:design_pattern] xref: GARD:0005613 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: MESH:C564522 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:300387 {source="MONDO:equivalentTo"} @@ -197739,8 +199609,10 @@ def: "Any FG syndrome in which the cause of the disease is a mutation in the CAS subset: gard_rare {source="GARD:0009925"} synonym: "CAGH39" EXACT [Orphanet:165976] synonym: "calcium/calmodulin dependent serine protein kinase" RELATED [Orphanet:165976] +synonym: "CASK FG syndrome" EXACT [MONDO:design_pattern] synonym: "FG syndrome 4" EXACT [GARD:0009925, MONDO:Lexical, OMIM:300422] synonym: "FG syndrome 4; FGS4" RELATED [OMIM:300422] +synonym: "FG syndrome caused by mutation in CASK" EXACT [MONDO:design_pattern] synonym: "FG syndrome type 4" EXACT [MONDORULE:1, OMIM:300422] synonym: "FGS4" RELATED [GARD:0009925, MONDO:Lexical, OMIM:300422] synonym: "LIN2" EXACT [Orphanet:165976] @@ -197779,7 +199651,7 @@ xref: Orphanet:2076 {source="MONDO:subClassOf", source="OMIM:300423"} xref: Orphanet:93952 {source="DOID:0060806", source="OMIM:300423", source="MONDO:equivalentTo"} xref: UMLS:C1845543 {source="NCBI:mim2gene_medline", source="OMIM:300423", source="MONDO:equivalentTo"} is_a: MONDO:0016160 {source="Orphanet:93952"} ! X-linked intellectual disability-epilepsy syndrome -is_a: MONDO:0020119 {source="MONDO:Redundant", source="OMIM:300423", source="Orphanet:93952/inferred"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0060806", source="MONDO:Redundant", source="OMIM:300423", source="Orphanet:93952/inferred"} ! X-linked syndromic intellectual disability relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18305 {source="mim2gene_medgen"} ! ATP6AP2 property_value: confidence "6.200000000000001" xsd:double @@ -197788,8 +199660,10 @@ id: MONDO:0010320 name: retinitis pigmentosa 23 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the OFD1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010391"} +synonym: "OFD1 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 23" EXACT [MONDO:Lexical, OMIM:300424] synonym: "retinitis pigmentosa 23; RP23" RELATED [OMIM:300424] +synonym: "retinitis pigmentosa caused by mutation in OFD1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 23" EXACT [DOID:0110412, MONDORULE:2, OMIM:300424] synonym: "RP 23" RELATED [GARD:0010391] synonym: "RP23" EXACT [DOID:0110412, MONDO:Lexical, OMIM:300424] @@ -197890,10 +199764,12 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0010326 name: intellectual disability, X-linked 46 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the ARHGEF6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ARHGEF6 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, X-linked 46" RELATED [MONDO:Lexical, OMIM:300436] synonym: "mental retardation, X-linked 46; MRX46" RELATED [OMIM:300436] synonym: "mental retardation, X-linked type 46" EXACT [MONDORULE:2, OMIM:300436] synonym: "MRX46" RELATED [MONDO:Lexical, OMIM:300436] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in ARHGEF6" EXACT [MONDO:design_pattern] xref: MESH:C564513 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:300436 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="MONDO:subClassOf", source="OMIM:300436"} @@ -198165,10 +200041,12 @@ id: MONDO:0010338 name: X-linked distal spinal muscular atrophy type 3 def: "X-linked distal spinal muscular atrophy type 3 is a rare distal hereditary motor neuropathy characterized by slowly progressive atrophy and weakness of distal muscles of hands and feet with normal deep tendon reflexes or absent ankle reflexes and minimal or no sensory loss, sometimes mild proximal weakness in the legs and feet and hand deformities in males." [Orphanet:139557] subset: ordo_disease {source="Orphanet:139557"} +synonym: "ATP7A spinal muscular atrophy" EXACT [MONDO:design_pattern] synonym: "ATP7A-related distal motor neuropathy" EXACT [Orphanet:139557] synonym: "DSMAX" EXACT [Orphanet:139557] synonym: "Dsmax" RELATED [OMIM:300489] synonym: "SMAX3" EXACT [MONDO:Lexical, OMIM:300489, Orphanet:139557] +synonym: "spinal muscular atrophy caused by mutation in ATP7A" EXACT [MONDO:design_pattern] synonym: "spinal muscular atrophy, distal, X-linked 3" RELATED [MONDO:Lexical, OMIM:300489] synonym: "spinal muscular atrophy, distal, X-linked 3; SMAX3" RELATED [OMIM:300489] synonym: "spinal muscular atrophy, distal, X-linked recessive" RELATED [OMIM:300489] @@ -198288,6 +200166,8 @@ synonym: "mental retardation, X-linked 45" RELATED [MONDO:Lexical, OMIM:300498] synonym: "mental retardation, X-linked 45; MRX45" RELATED [OMIM:300498] synonym: "mental retardation, X-linked type 45" EXACT [MONDORULE:2, OMIM:300498] synonym: "MRX45" RELATED [MONDO:Lexical, OMIM:300498] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZNF81" EXACT [MONDO:design_pattern] +synonym: "ZNF81 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] xref: MESH:C564503 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:300498 {source="MONDO:equivalentTo"} xref: UMLS:C1845333 {source="OMIM:300498", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -198343,6 +200223,7 @@ is_a: MONDO:0005489 {source="DC-OMIM:300509"} ! dyslexia (disease) id: MONDO:0010349 name: ovarian dysgenesis 2 def: "Any primary ovarian failure in which the cause of the disease is a mutation in the BMP15 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BMP15 primary ovarian failure" EXACT [MONDO:design_pattern] synonym: "ODG2" RELATED [MONDO:Lexical, OMIM:300510] synonym: "ovarian dysgenesis 2" EXACT [MONDO:Lexical, OMIM:300510] synonym: "ovarian dysgenesis 2; ODG2" RELATED [OMIM:300510] @@ -198350,6 +200231,7 @@ synonym: "ovarian dysgenesis type 2" EXACT [MONDORULE:1, OMIM:300510] synonym: "ovarian dysgenesis, hypergonadotropic, X-linked" RELATED [OMIM:300510] synonym: "ovarian failure, hypergonadotropic, due to ovarian dysgenesis" RELATED [OMIM:300510] synonym: "premature ovarian failure 4" RELATED [OMIM:300510] +synonym: "primary ovarian failure caused by mutation in BMP15" EXACT [MONDO:design_pattern] xref: MESH:C564499 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:300510 {source="MONDO:equivalentTo"} xref: Orphanet:243 {source="OMIM:300510", source="MONDO:subClassOf"} @@ -198366,10 +200248,12 @@ property_value: confidence "2.3325714285714296" xsd:double id: MONDO:0010350 name: premature ovarian failure 2A def: "Any primary ovarian failure in which the cause of the disease is a mutation in the DIAPH2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DIAPH2 primary ovarian failure" EXACT [MONDO:design_pattern] synonym: "POF2A" RELATED [MONDO:Lexical, OMIM:300511] synonym: "premature ovarian failure 2A" EXACT [MONDO:Lexical, OMIM:300511] synonym: "premature ovarian failure 2A; POF2A" RELATED [OMIM:300511] synonym: "premature ovarian failure type 2A" EXACT [MONDORULE:4, OMIM:300511] +synonym: "primary ovarian failure caused by mutation in DIAPH2" EXACT [MONDO:design_pattern] xref: MESH:C564498 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:300511 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:300511"} @@ -198569,8 +200453,10 @@ name: Dent disease type 2 def: "Dent disease type 2 is a type of Dent disease in which patients have the manifestations of Dent disease type 1 (see this term) associated with extra-renal features." [Orphanet:93623] subset: ordo_clinical_subtype {source="Orphanet:93623"} synonym: "DENT disease 2" RELATED [OMIM:300555] +synonym: "Dent disease caused by mutation in OCRL" EXACT [MONDO:design_pattern] synonym: "Dent disease type 2" EXACT [MONDORULE:1, OMIM:300555] synonym: "nephrolithiasis type 2" EXACT [Orphanet:93623] +synonym: "OCRL Dent disease" EXACT [MONDO:design_pattern] xref: ICD10:N25.8 {source="ORDO:93623/ntbt", source="ORDO:93623/attributed", source="Orphanet:93623"} xref: OMIM:300555 {source="ORDO:93623/e", source="Orphanet:93623", source="MONDO:equivalentTo"} xref: Orphanet:1652 {source="MONDO:subClassOf", source="OMIM:300555"} @@ -198608,6 +200494,8 @@ synonym: "mental retardation, X-linked 30; MRX30" RELATED [OMIM:300558] synonym: "mental retardation, X-linked 47" RELATED [OMIM:300558] synonym: "mental retardation, X-linked type 30" EXACT [MONDORULE:2, OMIM:300558] synonym: "MRX30" RELATED [MONDO:Lexical, OMIM:300558] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in PAK3" EXACT [MONDO:design_pattern] +synonym: "PAK3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] xref: OMIM:300558 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="MONDO:subClassOf", source="OMIM:300558"} xref: UMLS:C0796237 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300558"} @@ -198624,6 +200512,7 @@ name: glycogen storage disease IXd def: "Glycogen storage disease due to muscle phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by exercise intolerance." [Orphanet:715] subset: gard_rare subset: ordo_disease {source="Orphanet:715"} +synonym: "glycogen storage disease caused by mutation in PHKA1" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to muscle phosphorylase kinase deficiency" EXACT [DOID:0111040] synonym: "glycogen storage disease type 9D" EXACT [DOID:0111040, Orphanet:715] synonym: "glycogen storage disease type 9E" EXACT [DOID:0111040, Orphanet:715] @@ -198648,6 +200537,7 @@ synonym: "muscle glycogenosis, X-linked" RELATED [OMIM:300559] synonym: "muscle phosphorylase kinase deficiency" EXACT [DOID:0111040] synonym: "muscle phosphorylase kinase deficiency" RELATED [OMIM:300559] synonym: "muscular phosphorylase kinase deficiency" RELATED [GARD:0003858] +synonym: "PHKA1 glycogen storage disease" EXACT [MONDO:design_pattern] synonym: "X-linked muscke glycogenosis" EXACT [DOID:0111040] xref: DOID:0111040 {source="MONDO:equivalentTo"} xref: GARD:0003858 {source="MONDO:equivalentTo"} @@ -198659,6 +200549,8 @@ xref: UMLS:C1845151 {source="NCBI:mim2gene_medline", source="OMIM:300559", sourc is_a: MONDO:0000366 {source="DOID:0111040", source="MONDOLEX:0010362"} ! glycogen storage disease IX is_a: MONDO:0016118 {source="Orphanet:715"} ! muscular glycogenosis is_a: MONDO:0018251 {source="MONDOLEX:0010362", source="Orphanet:715"} ! glycogen storage disease due to phosphorylase kinase deficiency +intersection_of: MONDO:0002412 {source="mim2gene_medgen"} ! glycogen storage disease +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8925 {source="mim2gene_medgen"} ! PHKA1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8925 {source="mim2gene_medgen"} ! PHKA1 property_value: confidence "116.50000000000043" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3858/muscular-phosphorylase-kinase-deficiency xsd:anyURI {source="GARD:0003858"} @@ -198671,6 +200563,8 @@ synonym: "mental retardation, X-linked 91" RELATED [MONDO:Lexical, OMIM:300577] synonym: "mental retardation, X-linked 91; MRX91" RELATED [OMIM:300577] synonym: "mental retardation, X-linked type 91" EXACT [MONDORULE:2, OMIM:300577] synonym: "MRX91" RELATED [MONDO:Lexical, OMIM:300577] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZDHHC15" EXACT [MONDO:design_pattern] +synonym: "ZDHHC15 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] xref: MESH:C564482 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:300577 {source="MONDO:equivalentTo"} xref: UMLS:C1845142 {source="NCBI:mim2gene_medline", source="OMIM:300577", source="MONDO:equivalentTo"} @@ -198783,8 +200677,10 @@ synonym: "Cdls, X-linked" RELATED [OMIM:300590] synonym: "CDLS2" RELATED [MONDO:Lexical, OMIM:300590] synonym: "Cornelia de Lange syndrome 2" EXACT [MONDO:Lexical, OMIM:300590] synonym: "Cornelia DE Lange syndrome 2; CDLS2" RELATED [OMIM:300590] +synonym: "Cornelia de Lange syndrome caused by mutation in SMC1A" EXACT [MONDO:design_pattern] synonym: "Cornelia De Lange syndrome type 2" EXACT [MONDORULE:1, OMIM:300590] synonym: "Cornelia De Lange syndrome, X-linked" RELATED [OMIM:300590] +synonym: "SMC1A Cornelia de Lange syndrome" EXACT [MONDO:design_pattern] synonym: "X-linked Cornelia De Lange syndrome" EXACT [NCIT:C75485] xref: NCIT:C75485 {source="MONDO:kboom-pr-0.74/0.37/0.54", source="MONDO:equivalentTo"} xref: OMIM:300590 {source="MONDO:equivalentTo"} @@ -198818,7 +200714,7 @@ xref: OMIM:300600 {source="ORDO:178333/e", source="DOID:0050630", source="Orphan xref: Orphanet:178333 {source="OMIM:300600", source="MONDO:equivalentTo"} xref: SCTID:266455006 {source="MONDO:equivalentTo"} xref: UMLS:C0268505 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="Orphanet:178333", source="OMIM:300600", source="MONDO:equivalentTo"} -is_a: MONDO:0019118 {source="Orphanet:178333"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:178333"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1393 {source="mim2gene_medgen"} ! CACNA1F property_value: confidence "5.000000000000001" xsd:double @@ -198840,10 +200736,12 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9994/clark-ba id: MONDO:0010373 name: premature ovarian failure 2B def: "Any primary ovarian failure in which the cause of the disease is a mutation in the POF1B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "POF1B primary ovarian failure" EXACT [MONDO:design_pattern] synonym: "POF2B" RELATED [MONDO:Lexical, OMIM:300604] synonym: "premature ovarian failure 2B" EXACT [MONDO:Lexical, OMIM:300604] synonym: "premature ovarian failure 2B; POF2B" RELATED [OMIM:300604] synonym: "premature ovarian failure type 2B" EXACT [MONDORULE:4, OMIM:300604] +synonym: "primary ovarian failure caused by mutation in POF1B" EXACT [MONDO:design_pattern] xref: MESH:C564476 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:300604 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:300604"} @@ -198928,8 +200826,8 @@ synonym: "MYP13" EXACT [MONDO:Lexical, OMIM:300613] xref: MESH:C564473 {source="MONDO:equivalentTo"} xref: OMIM:300613 {source="MONDO:equivalentTo"} xref: UMLS:C1845096 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300613"} -is_a: MONDO:0001384 {source="DC-OMIM:300613", source="OMIM:300613"} ! myopia (disease) -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0001384 {source="DC-OMIM:300613", source="MESH:C564473", source="OMIM:300613"} ! myopia (disease) +is_a: MONDO:0003847 {source="MESH:C564473/inferred"} ! inherited genetic disease [Term] id: MONDO:0010378 @@ -199029,7 +200927,7 @@ xref: SCTID:448045004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/ xref: UMLS:C1839780 {source="Orphanet:93256", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="NCIT:C126566", source="MONDO:equivalentTo", source="OMIM:300623"} xref: UMLS:C3164069 {source="Orphanet:93256", source="ORDO:93256/e"} is_a: MONDO:0002254 {source="NCIT:C126566"} ! syndromic disease -is_a: MONDO:0016612 {source="Orphanet:93256"} ! X-linked cerebellar ataxia +is_a: MONDO:0016612 {source="DOID:0050879", source="Orphanet:93256"} ! X-linked cerebellar ataxia is_a: MONDO:0017644 {source="Orphanet:93256"} ! rare tremor disorder is_a: MONDO:0017663 {source="Orphanet:93256"} ! rare genetic tremor disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3775 {source="mim2gene_medgen"} ! FMR1 @@ -199120,7 +201018,7 @@ xref: OMIM:300635 {source="DOID:0060706", source="MONDO:equivalentTo"} xref: Orphanet:2442 {source="MONDO:subClassOf", source="OMIM:300635"} xref: UMLS:C1845076 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C126295", source="OMIM:300635"} is_a: MONDO:0010627 {source="MESH:C564469", source="MONDOLEX:0010385", source="ORDO:2442/btnt"} ! X-linked lymphoproliferative syndrome -is_a: MONDO:0016537 {source="MESH:C564469", source="MONDO:Redundant", source="OMIM:300635"} ! lymphoproliferative syndrome +is_a: MONDO:0016537 {source="DOID:0060706", source="MESH:C564469", source="MONDO:Redundant", source="OMIM:300635"} ! lymphoproliferative syndrome is_a: MONDO:0021094 {source="MONDO:Redundant", source="NCIT:C126295"} ! immunodeficiency syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/592 {source="mim2gene_medgen"} ! XIAP property_value: confidence "2.069473684210527" xsd:double @@ -199157,6 +201055,8 @@ property_value: confidence "8.333333333333336" xsd:double id: MONDO:0010387 name: invasive pneumococcal disease, recurrent isolated, 2 def: "Any invasive pneumococcal disease, recurrent isolated in which the cause of the disease is a mutation in the IKBKG gene." [MONDO:patterns/disease_series_by_gene] +synonym: "IKBKG invasive pneumococcal disease, recurrent isolated" EXACT [MONDO:design_pattern] +synonym: "invasive pneumococcal disease, recurrent isolated caused by mutation in IKBKG" EXACT [MONDO:design_pattern] synonym: "invasive pneumococcal disease, recurrent isolated, 2" EXACT [MONDO:Lexical, OMIM:300640] synonym: "invasive pneumococcal disease, recurrent isolated, 2; IPD2" RELATED [OMIM:300640] synonym: "invasive pneumococcal disease, recurrent isolated, type 2" EXACT [MONDORULE:1, OMIM:300640] @@ -199242,10 +201142,12 @@ id: MONDO:0010392 name: glycogen storage disease due to phosphoglycerate kinase 1 deficiency def: "Phosphoglycerate kinase (PGK) deficiency is a metabolic disorder characterized by variable combinations of nonspherocytic hemolytic anemia, myopathy, and various central nervous system abnormalities." [Orphanet:713] subset: ordo_disease {source="Orphanet:713"} +synonym: "glycogen storage disease caused by mutation in PGK1" EXACT [MONDO:design_pattern] synonym: "glycogenosis due to phosphoglycerate kinase 1 deficiency" EXACT [Orphanet:713] synonym: "GSD due to phosphoglycerate kinase 1 deficiency" EXACT [Orphanet:713] synonym: "PGK deficiency" RELATED [GARD:0007389] synonym: "Pgk1 deficiency" RELATED [OMIM:300653] +synonym: "PGK1 glycogen storage disease" EXACT [MONDO:design_pattern] synonym: "PHOSPHOGLYCERATE KINASE 1 deficiency" RELATED [OMIM:300653] synonym: "Phosphoglycerate kinase deficiency" RELATED [GARD:0007389] xref: GARD:0007389 {source="shared-umls-xref", source="MONDO:equivalentTo"} @@ -199270,11 +201172,13 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0010393 name: intellectual disability, X-linked 93 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the BRWD3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BRWD3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, X-linked 93" RELATED [MONDO:Lexical, OMIM:300659] synonym: "mental retardation, X-linked 93; MRX93" RELATED [OMIM:300659] synonym: "mental retardation, X-linked type 93" EXACT [MONDORULE:2, OMIM:300659] synonym: "mental retardation, X-linked, with macrocephaly" RELATED [OMIM:300659] synonym: "MRX93" RELATED [MONDO:Lexical, OMIM:300659] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in BRWD3" EXACT [MONDO:design_pattern] xref: MESH:C567066 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:300659 {source="MONDO:equivalentTo"} xref: UMLS:C1970841 {source="NCBI:mim2gene_medline", source="OMIM:300659", source="MONDO:equivalentTo"} @@ -199325,6 +201229,8 @@ property_value: confidence "1.0" xsd:double id: MONDO:0010396 name: epileptic encephalopathy, early infantile, 2 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CDKL5 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CDKL5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] +synonym: "early infantile epileptic encephalopathy caused by mutation in CDKL5" EXACT [MONDO:design_pattern] synonym: "EIEE2" RELATED [MONDO:Lexical, OMIM:300672] synonym: "epileptic encephalopathy, early infantile, 2" EXACT [MONDO:Lexical, OMIM:300672] synonym: "epileptic encephalopathy, early infantile, 2; EIEE2" RELATED [OMIM:300672] @@ -199368,6 +201274,8 @@ synonym: "mental retardation, X-linked, syndromic 14; MRXS14" RELATED [OMIM:3006 synonym: "mental retardation, X-linked, syndromic type 14" EXACT [MONDORULE:2, OMIM:300676] synonym: "MRXS14" RELATED [MONDO:Lexical, OMIM:300676] synonym: "syndromic X-linked intellectual disability type 14" EXACT [DOID:0060821, MONDORULE:2] +synonym: "UPF3B X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern] +synonym: "X-linked syndromic intellectual disability caused by mutation in UPF3B" EXACT [MONDO:design_pattern] xref: DOID:0060821 {source="MONDO:equivalentTo"} xref: ICD10:Q87.8 {source="DOID:0060821"} xref: MESH:C537923 {source="DOID:0060821"} @@ -199378,7 +201286,7 @@ xref: Orphanet:776 {source="MONDO:subClassOf", source="OMIM:300676", source="DOI xref: UMLS:C0796022 {source="DOID:0060821"} xref: UMLS:C1970822 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:300676", source="MONDO:equivalentTo"} is_a: MONDO:0010655 ! X-linked intellectual disability with marfanoid habitus -is_a: MONDO:0020119 {source="MONDO:Redundant", source="OMIM:300676"} ! X-linked syndromic intellectual disability +is_a: MONDO:0020119 {source="DOID:0060821", source="MONDO:Redundant", source="OMIM:300676"} ! X-linked syndromic intellectual disability intersection_of: MONDO:0020119 ! X-linked syndromic intellectual disability intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20439 ! UPF3B relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20439 {source="mim2gene_medgen"} ! UPF3B @@ -199496,9 +201404,9 @@ xref: Orphanet:998 {source="MONDO:equivalentTo", source="OMIM:300700"} xref: SCTID:722285005 {source="MONDO:equivalentTo"} xref: SCTID:74320008 {source="MONDO:equivalentTo"} xref: UMLS:C1845068 {source="NCBI:mim2gene_medline", source="ORDO:998/e", source="Orphanet:998", source="OMIM:300700"} -is_a: MONDO:0019290 {source="Orphanet:998"} ! hypopigmentation of the skin (disease) +is_a: MONDO:0019290 {source="MESH:C537042/inferred", source="Orphanet:998"} ! hypopigmentation of the skin (disease) is_a: MONDO:0019589 {source="Orphanet:998"} ! syndromic genetic deafness -is_a: MONDO:0043209 {source="MONDO:cjm"} ! albinism +is_a: MONDO:0043209 {source="MESH:C537042", source="MONDO:cjm", source="linkedlifedata"} ! albinism property_value: confidence "8.6" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/589/albinism-deafness-syndrome xsd:anyURI {source="GARD:0000589"} @@ -199634,7 +201542,7 @@ synonym: "pyloric stenosis, infantile hypertrophic, 4; IHPS4" RELATED [OMIM:3007 xref: MESH:C567472 {source="MONDO:equivalentTo"} xref: OMIM:300711 {source="MONDO:equivalentTo"} xref: UMLS:C2678037 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300711"} -is_a: MONDO:0001560 {source="DC-OMIM:300711", source="MONDOLEX:0010411", source="OMIM:300711"} ! hypertrophic pyloric stenosis +is_a: MONDO:0001560 {source="DC-OMIM:300711", source="MESH:C567472", source="MONDOLEX:0010411", source="OMIM:300711"} ! hypertrophic pyloric stenosis is_a: MONDO:0003847 ! inherited genetic disease property_value: confidence "3.8773052888279222" xsd:double @@ -199751,7 +201659,7 @@ xref: OMIM:300750 {source="DOID:0110785", source="Orphanet:171607", source="ORDO xref: Orphanet:171607 {source="OMIM:300750", source="DOID:0110785", source="MONDO:equivalentTo"} xref: UMLS:C2677897 {source="OMIM:300750", source="NCBI:mim2gene_medline", source="Orphanet:171607", source="MEDGEN:kboom-pr98-c99", source="ORDO:171607/e", source="MONDO:equivalentTo"} is_a: MONDO:0017912 {source="Orphanet:171607"} ! X-linked pure spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:300750", source="Orphanet:171607/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110785", source="MESH:C567465", source="MONDO:Redundant", source="OMIM:300750", source="Orphanet:171607/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.61111111111111" xsd:double [Term] @@ -199784,8 +201692,8 @@ xref: Orphanet:75563 {source="OMIM:300751", source="MONDO:equivalentTo"} xref: SCTID:62677000 {source="MONDO:kboom-pr-0.78/0.43/0.63", source="MONDO:equivalentTo"} xref: UMLS:C0221018 {source="OMIM:300751", source="NCBI:mim2gene_medline"} is_a: MONDO:0000425 {source="MESH:C536761", source="MONDO:Entailed"} ! X-linked disease -is_a: MONDO:0015194 {source="MESH:C536761", source="MONDO:Redundant", source="OMIM:300751", source="Orphanet:75563/inferred", source="linkedlifedata"} ! sideroblastic anemia -is_a: MONDO:0017754 {source="Orphanet:75563"} ! inborn disorder of porphyrin metabolism +is_a: MONDO:0015194 {source="DOID:0060063", source="MESH:C536761", source="MONDO:Redundant", source="OMIM:300751", source="Orphanet:75563/inferred", source="linkedlifedata"} ! sideroblastic anemia +is_a: MONDO:0017754 {source="Orphanet:75563", source="linkedlifedata"} ! inborn disorder of porphyrin metabolism is_a: MONDO:0020099 {source="Orphanet:75563"} ! constitutional sideroblastic anemia intersection_of: MONDO:0015194 ! sideroblastic anemia intersection_of: has_modifier HP:0001417 ! X-linked inheritance @@ -199878,7 +201786,7 @@ xref: DOID:0110036 {source="MONDO:equivalentTo"} xref: MESH:C567463 {source="MONDO:equivalentTo"} xref: OMIM:300756 {source="DOID:0110036", source="MONDO:equivalentTo"} xref: UMLS:C2677888 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300756"} -is_a: MONDO:0004975 {source="DC-OMIM:300756", source="DOID:0110036", source="MONDOLEX:0010422"} ! Alzheimer disease +is_a: MONDO:0004975 {source="DC-OMIM:300756", source="DOID:0110036", source="MESH:C567463", source="MONDOLEX:0010422"} ! Alzheimer disease [Term] id: MONDO:0010423 @@ -199950,7 +201858,7 @@ xref: Orphanet:293621 {source="OMIM:300779", source="MONDO:equivalentTo", source xref: SCTID:718579008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C2749049 {source="NCBI:mim2gene_medline", source="Orphanet:293621", source="OMIM:300779", source="MONDO:equivalentTo"} is_a: MONDO:0000766 {source="DOID:0060446", source="linkedlifedata"} ! corneal endothelial dystrophy -is_a: MONDO:0020214 {source="Orphanet:293621", source="linkedlifedata"} ! posterior corneal dystrophy +is_a: MONDO:0020214 {source="Orphanet:293621", source="linkedlifedata", source="linkedlifedata/inferred"} ! posterior corneal dystrophy property_value: confidence "22.611111111111114" xsd:double [Term] @@ -200002,6 +201910,8 @@ synonym: "mental retardation, X-linked 96" RELATED [MONDO:Lexical, OMIM:300802] synonym: "mental retardation, X-linked 96; MRX96" RELATED [OMIM:300802] synonym: "mental retardation, X-linked type 96" EXACT [MONDORULE:2, OMIM:300802] synonym: "MRX96" RELATED [MONDO:Lexical, OMIM:300802] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in SYP" EXACT [MONDO:design_pattern] +synonym: "SYP non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] xref: OMIM:300802 {source="MONDO:equivalentTo"} xref: UMLS:C2749021 {source="NCBI:mim2gene_medline"} xref: UMLS:C3275408 {source="OMIM:300802", source="MONDO:equivalentTo"} @@ -200021,6 +201931,8 @@ synonym: "mental retardation, X-linked 97; MRX97" RELATED [OMIM:300803] synonym: "mental retardation, X-linked type 97" EXACT [MONDORULE:2, OMIM:300803] synonym: "MRX97" RELATED [MONDO:Lexical, OMIM:300803] synonym: "Mrxz" RELATED [OMIM:300803] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in ZNF711" EXACT [MONDO:design_pattern] +synonym: "ZNF711 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] xref: MESH:C567583 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:300803 {source="MONDO:equivalentTo"} xref: UMLS:C2749020 {source="NCBI:mim2gene_medline", source="OMIM:300803", source="MONDO:equivalentTo"} @@ -200037,14 +201949,16 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th synonym: "JBTS10" EXACT [DOID:0110981, MONDO:Lexical, OMIM:300804] synonym: "Joubert syndrome 10" EXACT [MONDO:Lexical, OMIM:300804] synonym: "Joubert syndrome 10; JBTS10" RELATED [OMIM:300804] +synonym: "Joubert syndrome caused by mutation in OFD1" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 10" EXACT [DOID:0110981, MONDORULE:2, OMIM:300804] +synonym: "OFD1 Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110981 {source="MONDO:equivalentTo"} xref: MESH:C567582 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:300804 {source="DOID:0110981", source="MONDO:equivalentTo"} xref: Orphanet:2754 {source="MONDO:subClassOf", source="OMIM:300804"} xref: UMLS:C2749019 {source="NCBI:mim2gene_medline", source="OMIM:300804", source="MONDO:equivalentTo"} is_a: MONDO:0010176 {source="MONDOLEX:0010431", source="ORDO:2754/btnt"} ! Joubert syndrome with orofaciodigital defect -is_a: MONDO:0018772 {source="MONDO:Redundant", source="OMIM:300804"} ! Joubert syndrome +is_a: MONDO:0018772 {source="DOID:0110981", source="MONDO:Redundant", source="OMIM:300804"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2567 ! OFD1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2567 {source="mim2gene_medgen"} ! OFD1 @@ -200104,8 +202018,8 @@ xref: Orphanet:3273 {source="OMIM:300813", source="MONDO:equivalentTo"} xref: SCTID:302851001 {source="EFO:0001376", source="DOID:5485", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: SCTID:63211008 {source="EFO:0001376", source="DOID:5485"} xref: UMLS:C0039101 {source="NCBI:mim2gene_medline", source="Orphanet:3273", source="NCIT:C3400", source="ORDO:3273/e", source="OMIM:300813", source="DOID:5485", source="MONDO:equivalentTo"} -is_a: MONDO:0005089 {source="DC-OMIM:300813", source="EFO:0001376", source="MESH:D013584", source="MONDO:Redundant", source="NCIT:C3400/inferred", source="linkedlifedata"} ! sarcoma -is_a: MONDO:0018078 {source="NCIT:C3400", source="Orphanet:3273"} ! soft tissue sarcoma +is_a: MONDO:0005089 {source="DC-OMIM:300813", source="EFO:0001376", source="MESH:D013584", source="MONDO:Redundant", source="NCIT:C3400/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! sarcoma +is_a: MONDO:0018078 {source="NCIT:C3400", source="Orphanet:3273", source="linkedlifedata"} ! soft tissue sarcoma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11335 {source="mim2gene_medgen"} ! SSX1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11336 {source="mim2gene_medgen"} ! SSX2 relationship: excluded_subClassOf MONDO:0002403 {source="DOID:5485", source="synovial sarcomas are not necessarily of synovial origin"} ! synovium cancer @@ -200167,7 +202081,9 @@ name: paroxysmal nocturnal hemoglobinuria 1 def: "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGA gene." [MONDO:patterns/disease_series_by_gene] synonym: "paroxysmal nocturnal hemoglobinuria 1" EXACT [MONDO:Lexical, OMIM:300818] synonym: "paroxysmal nocturnal hemoglobinuria 1; PNH1" RELATED [OMIM:300818] +synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGA" EXACT [MONDO:design_pattern] synonym: "paroxysmal nocturnal hemoglobinuria type 1" EXACT [MONDORULE:1, OMIM:300818] +synonym: "PIGA paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:design_pattern] synonym: "PNH1" RELATED [MONDO:Lexical, OMIM:300818] xref: OMIM:300818 {source="MONDO:equivalentTo"} xref: Orphanet:447 {source="OMIM:300818", source="MONDO:subClassOf"} @@ -200309,6 +202225,8 @@ synonym: "mental retardation, X-linked 19" RELATED [MONDO:Lexical, OMIM:300844] synonym: "mental retardation, X-linked 19; MRX19" RELATED [OMIM:300844] synonym: "mental retardation, X-linked type 19" EXACT [MONDORULE:2, OMIM:300844] synonym: "MRX19" RELATED [MONDO:Lexical, OMIM:300844] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in RPS6KA3" EXACT [MONDO:design_pattern] +synonym: "RPS6KA3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] xref: MESH:C563141 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:300844 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="MONDO:subClassOf", source="OMIM:300844"} @@ -200325,8 +202243,8 @@ name: moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hyp def: "Moyamoya angiopathy - short stature - facial dysmorphism - hypergonadotropic hypogonadism is a very rare, hereditary, neurological, dysmorphic syndrome characterized by moyamoya disease, short stature of postnatal onset, and stereotyped facial dysmorphism." [Orphanet:280679] subset: ordo_disease {source="Orphanet:280679"} synonym: "chromosome Xq28 deletion syndrome, 3.4-Kb" RELATED [OMIM:300845] -synonym: "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial DYSMORPHISM" RELATED [MONDO:Lexical, OMIM:300845] -synonym: "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial DYSMORPHISM; MYMY4" RELATED [OMIM:300845] +synonym: "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:300845] +synonym: "Moyamoya disease 4 with short stature, hypergonadotropic hypogonadism, and facial dysmorphism; MYMY4" RELATED [OMIM:300845] synonym: "Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism" EXACT [Orphanet:280679] synonym: "MYMY4" RELATED [MONDO:Lexical, OMIM:300845] synonym: "syndromic Moyamoya disease" RELATED [OMIM:300845] @@ -200375,11 +202293,13 @@ property_value: confidence "2.6000000000000005" xsd:double id: MONDO:0010451 name: intellectual disability, X-linked 41 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the GDI1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GDI1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, X-linked 41" RELATED [MONDO:Lexical, OMIM:300849] synonym: "mental retardation, X-linked 41; MRX41" RELATED [OMIM:300849] synonym: "mental retardation, X-linked 48" RELATED [OMIM:300849] synonym: "mental retardation, X-linked type 41" EXACT [MONDORULE:2, OMIM:300849] synonym: "MRX41" RELATED [MONDO:Lexical, OMIM:300849] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in GDI1" EXACT [MONDO:design_pattern] xref: OMIM:300849 {source="MONDO:equivalentTo"} xref: UMLS:C1415038 {source="OMIM:300849"} xref: UMLS:C3887939 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -200393,10 +202313,12 @@ property_value: confidence "2.6000000000000005" xsd:double id: MONDO:0010452 name: intellectual disability, X-linked 90 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the DLG3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DLG3 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, X-linked 90" RELATED [MONDO:Lexical, OMIM:300850] synonym: "mental retardation, X-linked 90; MRX90" RELATED [OMIM:300850] synonym: "mental retardation, X-linked type 90" EXACT [MONDORULE:2, OMIM:300850] synonym: "MRX90" RELATED [MONDO:Lexical, OMIM:300850] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in DLG3" EXACT [MONDO:design_pattern] xref: OMIM:300850 {source="MONDO:equivalentTo"} xref: UMLS:C3275443 {source="OMIM:300850", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019181 {source="DC-OMIM:300850", source="OMIM:300850"} ! non-syndromic X-linked intellectual disability @@ -200519,11 +202441,13 @@ synonym: "amyotrophic lateral sclerosis 15" EXACT [DOID:0060206, OMIM:300857] synonym: "amyotrophic lateral sclerosis 15 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:300857] synonym: "amyotrophic lateral sclerosis 15 with or without frontotemporal dementia; ALS15" RELATED [OMIM:300857] synonym: "amyotrophic lateral sclerosis 15, with or without frontotemporal dementia" EXACT [DOID:0060206, OMIM:300857] +synonym: "amyotrophic lateral sclerosis caused by mutation in UBQLN2" EXACT [MONDO:design_pattern] +synonym: "UBQLN2 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0060206 {source="MONDO:equivalentTo"} xref: OMIM:300857 {source="DOID:0060206", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:300857", source="MONDO:subClassOf"} xref: UMLS:C3275459 {source="NCBI:mim2gene_medline", source="OMIM:300857", source="MONDO:equivalentTo"} -is_a: MONDO:0004976 {source="MONDO:Redundant", source="OMIM:300857"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0060206", source="MONDO:Redundant", source="OMIM:300857"} ! amyotrophic lateral sclerosis is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12509 ! UBQLN2 @@ -200636,6 +202560,7 @@ property_value: confidence "0.37362637362637363" xsd:double [Term] id: MONDO:0010466 name: multiple congenital anomalies-hypotonia-seizures syndrome 2 +def: "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGA gene." [MONDO:design_pattern] subset: ordo_malformation_syndrome {source="Orphanet:300496"} synonym: "epileptic encephalopathy, early infantile, 20" RELATED [OMIM:300868] synonym: "glycosylphosphatidylinositol biosynthesis defect 4" RELATED [OMIM:300868] @@ -200644,6 +202569,8 @@ synonym: "MCAHS2" RELATED [MONDO:Lexical, OMIM:300868] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 2" EXACT [MONDO:Lexical, OMIM:300868] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 2; MCAHS2" RELATED [OMIM:300868] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 2" EXACT [DOID:0080139, MONDORULE:1, OMIM:300868] +synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGA" EXACT [MONDO:design_pattern] +synonym: "PIGA multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern] xref: DOID:0080139 {source="MONDO:equivalentTo"} xref: GARD:0012777 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:Q87.8 {source="ORDO:300496/ntbt", source="ORDO:300496/attributed", source="Orphanet:300496"} @@ -200783,10 +202710,12 @@ id: MONDO:0010474 name: linear skin defects with multiple congenital anomalies 2 def: "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the COX7B gene." [MONDO:patterns/disease_series_by_gene] synonym: "aplasia cutis congenita, Reticulolinear, with microcephaly, Facial Dysmorphism, and Other congenital anomalies" RELATED [OMIM:300887] +synonym: "COX7B microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern] synonym: "linear skin defects with multiple congenital anomalies 2" EXACT [MONDO:Lexical, OMIM:300887] synonym: "linear skin defects with multiple congenital anomalies 2; LSDMCA2" RELATED [OMIM:300887] synonym: "linear skin defects with multiple congenital anomalies type 2" EXACT [MONDORULE:1, OMIM:300887] synonym: "LSDMCA2" RELATED [MONDO:Lexical, OMIM:300887] +synonym: "microphthalmia with linear skin defects syndrome caused by mutation in COX7B" EXACT [MONDO:design_pattern] xref: OMIM:300887 {source="MONDO:equivalentTo"} xref: Orphanet:2556 {source="MONDO:subClassOf", source="OMIM:300887"} xref: UMLS:C3550921 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:300887"} @@ -200832,11 +202761,13 @@ synonym: "NBIA5" EXACT [DOID:0110739, MONDO:Lexical, OMIM:300894, Orphanet:32928 synonym: "neurodegeneration with brain iron accululation 5" RELATED [GARD:0012570] synonym: "neurodegeneration with brain iron accumulation 5" EXACT [MONDO:Lexical, OMIM:300894] synonym: "neurodegeneration with brain iron accumulation 5; NBIA5" RELATED [OMIM:300894] +synonym: "neurodegeneration with brain iron accumulation caused by mutation in WDR45" EXACT [MONDO:design_pattern] synonym: "neurodegeneration with brain iron accumulation type 5" EXACT [DOID:0110739, MONDORULE:1, OMIM:300894, Orphanet:329284] synonym: "SENDA" EXACT [DOID:0110739, Orphanet:329284] synonym: "static encephalopathy of childhood with neurdegeneration in adulthood" EXACT [Orphanet:329284] synonym: "static encephalopathy of childhood with neurodegeneration 1N adulthood" RELATED [OMIM:300894] synonym: "static encephalopathy Of childhood with neurodegeneration In adulthood" EXACT [DOID:0110739] +synonym: "WDR45 neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern] xref: DOID:0110739 {source="MONDO:equivalentTo"} xref: GARD:0012570 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G23.0 {source="ORDO:329284/ntbt", source="Orphanet:329284", source="ORDO:329284/attributed", source="DOID:0110739"} @@ -200925,7 +202856,7 @@ xref: ICD10:G60.0 {source="ORDO:352675/attributed", source="ORDO:352675/ntbt", s xref: OMIM:300905 {source="ORDO:352675/e", source="DOID:0110207", source="Orphanet:352675", source="MONDO:equivalentTo"} xref: Orphanet:352675 {source="OMIM:300905", source="DOID:0110207", source="MONDO:equivalentTo"} xref: UMLS:C3806702 {source="NCBI:mim2gene_medline", source="OMIM:300905", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:300905", source="Orphanet:352675/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110207/inferred", source="MONDO:Redundant", source="OMIM:300905", source="Orphanet:352675/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018994 {source="DOID:0110207", source="MONDOLEX:0010479", source="Orphanet:352675"} ! Charcot-Marie-tooth disease type X property_value: confidence "15.666666666666679" xsd:double @@ -200976,10 +202907,10 @@ xref: SCTID:400075008 {source="DOID:1558", source="MONDO:kboom-pr-0.73/0.44/0.08 xref: SCTID:41291007 {source="DOID:1558", source="EFO:0005532", source="MONDO:superClassOf"} xref: SCTID:82966003 {source="DOID:1558"} xref: UMLS:C0002994 {source="DOID:1558", source="NCIT:C112175"} -is_a: MONDO:0005093 {source="DOID:1558", source="EFO:0005532", source="MESH:D000799/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! skin disease +is_a: MONDO:0005093 {source="DOID:1558", source="EFO:0005532", source="MESH:D000799/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease is_a: MONDO:0005385 {source="MESH:D000799", source="MONDO:Redundant"} ! vascular disease is_a: MONDO:0005492 {source="MESH:D000799", source="MONDO:Redundant", source="linkedlifedata"} ! urticaria (disease) -is_a: MONDO:0019293 {source="OWLReasoner:2017"} ! skin vascular disease +is_a: MONDO:0019293 {source="MESH:D000799/inferred", source="OWLReasoner:2017"} ! skin vascular disease [Term] id: MONDO:0010482 @@ -201021,10 +202952,12 @@ id: MONDO:0010484 name: deafness, X-linked 6 def: "Any X-linked nonsyndromic deafness in which the cause of the disease is a mutation in the COL4A6 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +synonym: "COL4A6 X-linked nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, X-linked 6" EXACT [MONDO:Lexical, OMIM:300914] synonym: "deafness, X-linked 6; DFNX6" RELATED [OMIM:300914] synonym: "deafness, X-linked type 6" EXACT [MONDORULE:1, OMIM:300914] synonym: "DFNX6" RELATED [MONDO:Lexical, OMIM:300914] +synonym: "X-linked nonsyndromic deafness caused by mutation in COL4A6" EXACT [MONDO:design_pattern] xref: OMIM:300914 {source="MONDO:equivalentTo"} xref: Orphanet:90625 {source="MONDO:subClassOf", source="OMIM:300914"} xref: UMLS:C3806737 {source="NCBI:mim2gene_medline", source="OMIM:300914", source="MONDO:equivalentTo"} @@ -201078,6 +203011,8 @@ synonym: "mental retardation, X-linked 99" RELATED [MONDO:Lexical, OMIM:300919] synonym: "mental retardation, X-linked 99; MRX99" RELATED [OMIM:300919] synonym: "mental retardation, X-linked type 99" EXACT [MONDORULE:2, OMIM:300919] synonym: "MRX99" RELATED [MONDO:Lexical, OMIM:300919] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in USP9X" EXACT [MONDO:design_pattern] +synonym: "USP9X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] xref: OMIM:300919 {source="MONDO:equivalentTo"} xref: UMLS:C3806746 {source="OMIM:300919", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019181 {source="DC-OMIM:300919", source="OMIM:300919"} ! non-syndromic X-linked intellectual disability @@ -201090,10 +203025,12 @@ property_value: confidence "2.6000000000000005" xsd:double id: MONDO:0010488 name: intellectual disability, X-linked 100 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KIF4A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KIF4A non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, X-linked 100" RELATED [MONDO:Lexical, OMIM:300923] synonym: "mental retardation, X-linked 100; MRX100" RELATED [OMIM:300923] synonym: "mental retardation, X-linked type 100" EXACT [MONDORULE:2, OMIM:300923] synonym: "MRX100" RELATED [MONDO:Lexical, OMIM:300923] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in KIF4A" EXACT [MONDO:design_pattern] xref: OMIM:300923 {source="MONDO:equivalentTo"} xref: UMLS:C3890167 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019181 {source="DC-OMIM:300923", source="OMIM:300923"} ! non-syndromic X-linked intellectual disability @@ -201109,7 +203046,9 @@ def: "Any non-syndromic X-linked intellectual disability in which the cause of t synonym: "mental retardation, X-linked 101" RELATED [MONDO:Lexical, OMIM:300928] synonym: "mental retardation, X-linked 101; MRX101" RELATED [OMIM:300928] synonym: "mental retardation, X-linked type 101" EXACT [MONDORULE:2, OMIM:300928] +synonym: "MID2 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] synonym: "MRX101" RELATED [MONDO:Lexical, OMIM:300928] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in MID2" EXACT [MONDO:design_pattern] xref: OMIM:300928 {source="MONDO:equivalentTo"} xref: UMLS:C3890168 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019181 {source="DC-OMIM:300928", source="OMIM:300928"} ! non-syndromic X-linked intellectual disability @@ -201175,6 +203114,7 @@ name: pituitary adenoma, growth hormone-secreting, 2 def: "Any pituitary gland adenoma in which the cause of the disease is a mutation in the GPR101 gene." [MONDO:patterns/disease_series_by_gene] synonym: "acromegaly due to pituitary adenoma 2" RELATED [OMIM:300943] synonym: "acromegaly, X-linked" RELATED [OMIM:300943] +synonym: "GPR101 pituitary gland adenoma" EXACT [MONDO:design_pattern] synonym: "PAGH2" RELATED [MONDO:Lexical, OMIM:300943] synonym: "PITA2" RELATED [OMIM:300943] synonym: "pituitary adenoma 2, Growth hormone-secreting" RELATED [OMIM:300943] @@ -201182,6 +203122,7 @@ synonym: "pituitary adenoma 2, GROWTH hormone-secreting; PITA2" RELATED [OMIM:30 synonym: "pituitary adenoma, growth hormone-secreting, 2" EXACT [MONDO:Lexical, OMIM:300943] synonym: "pituitary adenoma, GROWTH hormone-secreting, 2; PAGH2" RELATED [OMIM:300943] synonym: "pituitary adenoma, Growth hormone-secreting, type 2" EXACT [MONDORULE:1, OMIM:300943] +synonym: "pituitary gland adenoma caused by mutation in GPR101" EXACT [MONDO:design_pattern] xref: OMIM:300943 {source="MONDO:equivalentTo"} xref: Orphanet:963 {source="MONDO:subClassOf", source="OMIM:300943"} xref: UMLS:C4012409 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -201199,6 +203140,8 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio synonym: "DBA14" RELATED [MONDO:Lexical, OMIM:300946] synonym: "Diamond-Blackfan anemia 14 with mandibulofacial dysostosis" EXACT [MONDO:Lexical, OMIM:300946] synonym: "DIAMOND-Blackfan ANEMIA 14 with mandibulofacial dysostosis; DBA14" RELATED [OMIM:300946] +synonym: "Diamond-Blackfan anemia caused by mutation in TSR2" EXACT [MONDO:design_pattern] +synonym: "TSR2 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: OMIM:300946 {source="MONDO:equivalentTo"} xref: UMLS:C4225422 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015253 {source="DC-OMIM:300946", source="MONDOLEX:0010493", source="OMIM:300946"} ! Diamond-Blackfan anemia @@ -201215,6 +203158,8 @@ synonym: "linear skin defects with multiple congenital anomalies 3" EXACT [MONDO synonym: "linear skin defects with multiple congenital anomalies 3; LSDMCA3" RELATED [OMIM:300952] synonym: "linear skin defects with multiple congenital anomalies type 3" EXACT [MONDORULE:1, OMIM:300952] synonym: "LSDMCA3" RELATED [MONDO:Lexical, OMIM:300952] +synonym: "microphthalmia with linear skin defects syndrome caused by mutation in NDUFB11" EXACT [MONDO:design_pattern] +synonym: "NDUFB11 microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern] xref: OMIM:300952 {source="MONDO:equivalentTo"} xref: Orphanet:2556 {source="MONDO:subClassOf", source="OMIM:300952"} xref: UMLS:C4225421 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -201228,6 +203173,8 @@ property_value: confidence "5.48" xsd:double id: MONDO:0010495 name: trichothiodystrophy 5, nonphotosensitive def: "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the RNF113A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "nonphotosensitive trichothiodystrophy caused by mutation in RNF113A" EXACT [MONDO:design_pattern] +synonym: "RNF113A nonphotosensitive trichothiodystrophy" EXACT [MONDO:design_pattern] synonym: "trichothiodystrophy 5, nonphotosensitive" EXACT [MONDO:Lexical, OMIM:300953] synonym: "trichothiodystrophy 5, nonphotosensitive; TTD5" RELATED [OMIM:300953] synonym: "TTD5" RELATED [MONDO:Lexical, OMIM:300953] @@ -201264,11 +203211,13 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0010497 name: intellectual disability, X-linked 102 def: "An inherited condition caused by mutation(s) in the DDX3X gene, encoding ATP-dependent RNA helicase DDX3X. It is characterized by severe intellectual disability and variable neurologic features." [NCIT:C129931] +synonym: "DDX3X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] synonym: "DDX3X-related intellectual disability" RELATED [GARD:0012715] synonym: "mental retardation, X-linked 102" RELATED [MONDO:Lexical, OMIM:300958] synonym: "mental retardation, X-linked 102; MRX102" RELATED [OMIM:300958] synonym: "mental retardation, X-linked type 102" EXACT [MONDORULE:2, OMIM:300958] synonym: "MRX102" RELATED [MONDO:Lexical, OMIM:300958] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in DDX3X" EXACT [MONDO:design_pattern] xref: GARD:0012715 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: NCIT:C129931 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equivalentTo"} xref: OMIM:300958 {source="MONDO:equivalentTo"} @@ -201301,8 +203250,10 @@ property_value: confidence "8.166666666666666" xsd:double id: MONDO:0010499 name: Ritscher-Schinzel syndrome 2 def: "Any Ritscher-Schinzel syndrome in which the cause of the disease is a mutation in the CCDC22 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CCDC22 Ritscher-Schinzel syndrome" EXACT [MONDO:design_pattern] synonym: "Ritscher-Schinzel syndrome 2" EXACT [OMIM:300963] synonym: "Ritscher-Schinzel syndrome 2; RTSC2" RELATED [OMIM:300963] +synonym: "Ritscher-Schinzel syndrome caused by mutation in CCDC22" EXACT [MONDO:design_pattern] synonym: "Ritscher-Schinzel syndrome type 2" EXACT [DOID:0060572, MONDORULE:1, OMIM:300963] synonym: "RTSC2" EXACT [OMIM:300963] xref: DOID:0060572 {source="MONDO:equivalentTo"} @@ -201323,6 +203274,8 @@ synonym: "mental retardation, X-linked, syndromic 33" EXACT [OMIM:300966] synonym: "mental retardation, X-linked, syndromic 33; MRXS33" RELATED [OMIM:300966] synonym: "mental retardation, X-linked, syndromic type 33" EXACT [MONDORULE:2, OMIM:300966] synonym: "MRXS33" EXACT [OMIM:300966] +synonym: "TAF1 X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern] +synonym: "X-linked syndromic intellectual disability caused by mutation in TAF1" EXACT [MONDO:design_pattern] xref: OMIM:300966 {source="MONDO:equivalentTo"} xref: UMLS:C4225418 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020119 {source="DC-OMIM:300966", source="OMIM:300966"} ! X-linked syndromic intellectual disability @@ -201342,8 +203295,10 @@ synonym: "mental retardation, X-linked, syndromic type 34" EXACT [MONDORULE:2, O synonym: "mental retardation, X-linked, syndromic, Mircsof-Langouet type" RELATED [OMIM:300967] synonym: "MRXS34" EXACT [DOID:0060817, OMIM:300967] synonym: "MRXSML" EXACT [DOID:0060817] +synonym: "NONO X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "syndromic X-linked intellectual disability type 34" EXACT [DOID:0060817, MONDORULE:2] synonym: "syndromic X-linked mental retardation Mircsof-Langouet type" EXACT [DOID:0060817] +synonym: "X-linked syndromic intellectual disability caused by mutation in NONO" EXACT [MONDO:design_pattern] xref: DOID:0060817 {source="MONDO:equivalentTo"} xref: OMIM:300967 {source="Orphanet:466791", source="DOID:0060817", source="MONDO:equivalentTo"} xref: Orphanet:466791 {source="DOID:0060817", source="MONDO:equivalentTo"} @@ -201362,6 +203317,8 @@ def: "Any X-linked syndromic intellectual disability in which the cause of the d synonym: "mental retardation, X-linked 99, syndromic, female-restricted" EXACT [OMIM:300968] synonym: "mental retardation, X-linked 99, syndromic, female-restricted; MRXS99F" RELATED [OMIM:300968] synonym: "MRXS99F" EXACT [OMIM:300968] +synonym: "USP9X X-linked syndromic intellectual disability" EXACT [MONDO:design_pattern] +synonym: "X-linked syndromic intellectual disability caused by mutation in USP9X" EXACT [MONDO:design_pattern] xref: OMIM:300968 {source="MONDO:equivalentTo"} xref: UMLS:C4225416 {source="NCBI:mim2gene_medline"} is_a: MONDO:0020119 {source="DC-OMIM:300968"} ! X-linked syndromic intellectual disability @@ -201374,8 +203331,10 @@ id: MONDO:0010503 name: Bartter disease type 5 def: "Any Bartter syndrome in which the cause of the disease is a mutation in the MAGED2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BARTS5" EXACT [DOID:0110147, OMIM:300971] +synonym: "Bartter syndrome caused by mutation in MAGED2" EXACT [MONDO:design_pattern] synonym: "Bartter syndrome, type 5, antenatal, transient" EXACT [DOID:0110147, OMIM:300971] synonym: "Bartter syndrome, type 5, antenatal, transient; BARTS5" RELATED [OMIM:300971] +synonym: "MAGED2 Bartter syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110147 {source="MONDO:equivalentTo"} xref: ICD10:E26.8 {source="DOID:0110147"} xref: OMIM:300971 {source="DOID:0110147", source="MONDO:equivalentTo"} @@ -201389,10 +203348,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16 id: MONDO:0010504 name: immunodeficiency 47; IMD47 def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the ATP6AP1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ATP6AP1 primary immunodeficiency disease" EXACT [MONDO:design_pattern] synonym: "IMD47" EXACT [OMIM:300972] synonym: "immunodeficiency 47" EXACT [OMIM:300972] synonym: "immunodeficiency and hepatopathy with or without neurologic features" RELATED [OMIM:300972] synonym: "immunodeficiency type 47" EXACT [MONDORULE:2, OMIM:300972] +synonym: "primary immunodeficiency disease caused by mutation in ATP6AP1" EXACT [MONDO:design_pattern] xref: OMIM:300972 {source="MONDO:equivalentTo"} xref: UMLS:C4310819 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003778 {source="DC-OMIM:300972"} ! primary immunodeficiency disease @@ -201436,6 +203397,8 @@ synonym: "mental retardation, X-linked 61" EXACT [OMIM:300978] synonym: "mental retardation, X-linked 61; MRX61" RELATED [OMIM:300978] synonym: "mental retardation, X-linked type 61" EXACT [MONDORULE:2, OMIM:300978] synonym: "MRX61" EXACT [OMIM:300978] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in RLIM" EXACT [MONDO:design_pattern] +synonym: "RLIM non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] xref: OMIM:300978 {source="MONDO:equivalentTo"} xref: UMLS:C4283894 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019181 {source="DC-OMIM:300978", source="OMIM:300978"} ! non-syndromic X-linked intellectual disability @@ -201456,10 +203419,12 @@ is_a: MONDO:0000762 {source="DC-OMIM:300979"} ! syndrome caused by partial chrom id: MONDO:0010508 name: intellectual disability, X-linked 103; MRX103 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the KLHL15 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KLHL15 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, X-linked 103" EXACT [OMIM:300982] synonym: "mental retardation, X-linked 103; MRX103" RELATED [OMIM:300982] synonym: "mental retardation, X-linked type 103" EXACT [MONDORULE:2, OMIM:300982] synonym: "MRX103" EXACT [OMIM:300982] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in KLHL15" EXACT [MONDO:design_pattern] xref: OMIM:300982 {source="MONDO:equivalentTo"} xref: UMLS:C4310818 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease @@ -201472,10 +203437,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29 id: MONDO:0010509 name: intellectual disability, X-linked 104; MRX104 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FRMPD4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FRMPD4 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, X-linked 104" EXACT [OMIM:300983] synonym: "mental retardation, X-linked 104; MRX104" RELATED [OMIM:300983] synonym: "mental retardation, X-linked type 104" EXACT [MONDORULE:2, OMIM:300983] synonym: "MRX104" EXACT [OMIM:300983] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in FRMPD4" EXACT [MONDO:design_pattern] xref: OMIM:300983 {source="MONDO:equivalentTo"} xref: UMLS:C4310817 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019181 {source="DC-OMIM:300983", source="OMIM:300983"} ! non-syndromic X-linked intellectual disability @@ -201492,6 +203459,8 @@ synonym: "mental retardation, X-linked 105" EXACT [OMIM:300984] synonym: "mental retardation, X-linked 105; MRX105" RELATED [OMIM:300984] synonym: "mental retardation, X-linked type 105" EXACT [MONDORULE:2, OMIM:300984] synonym: "MRX105" EXACT [OMIM:300984] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in USP27X" EXACT [MONDO:design_pattern] +synonym: "USP27X non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] xref: OMIM:300984 {source="MONDO:equivalentTo"} xref: UMLS:C4310816 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019181 {source="DC-OMIM:300984", source="OMIM:300984"} ! non-syndromic X-linked intellectual disability @@ -201582,6 +203551,8 @@ def: "Any primary ciliary dyskinesia in which the cause of the disease is a muta synonym: "CILD36" EXACT [OMIM:300991] synonym: "ciliary dyskinesia, primary, 36, with or without situs inversus" RELATED [OMIM:300991] synonym: "ciliary dyskinesia, primary, 36, X-linked" EXACT [OMIM:300991] +synonym: "PIH1D3 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] +synonym: "primary ciliary dyskinesia caused by mutation in PIH1D3" EXACT [MONDO:design_pattern] xref: OMIM:300991 {source="MONDO:equivalentTo"} xref: UMLS:C4478372 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:CN240511 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -201715,6 +203686,7 @@ comment: Editor note: subset: gard_rare synonym: "AI1E" RELATED [MONDO:Lexical, OMIM:301200] synonym: "AIH1" EXACT [DOID:0110058, GARD:0009943] +synonym: "amelogenesis imperfecta caused by mutation in AMELX" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturationtype with snow-capped teeth" EXACT [DOID:0110058] synonym: "amelogenesis imperfecta hypoplastic/hypomaturation X-linked 1" RELATED [GARD:0009943] synonym: "amelogenesis imperfecta type IE" EXACT [DOID:0110058] @@ -201725,6 +203697,7 @@ synonym: "amelogenesis imperfecta, type 1E" RELATED [OMIM:301200] synonym: "amelogenesis imperfecta, type IE" RELATED [MONDO:Lexical, OMIM:301200] synonym: "amelogenesis imperfecta, type IE; AI1E" RELATED [OMIM:301200] synonym: "amelogenesis imperfecta, X-linked 1" RELATED [OMIM:301200] +synonym: "AMELX amelogenesis imperfecta" EXACT [MONDO:design_pattern] synonym: "enamel hypoplasia X-linked" RELATED [GARD:0009943] synonym: "enamel hypoplasia, X-linked" RELATED [OMIM:301200] synonym: "X-linked amelogenesis imperfecta 1" EXACT [DOID:0110058] @@ -201739,7 +203712,7 @@ xref: UMLS:C1845052 {source="OMIM:301200", source="NCBI:mim2gene_medline"} xref: UMLS:C1845053 {source="OMIM:301200"} is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0015048 {source="ORDO:100033/btnt"} ! hypomaturation amelogenesis imperfecta -is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:301200", source="ORDO:88661/btnt"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="DOID:0110058", source="MONDO:Redundant", source="OMIM:301200", source="ORDO:88661/btnt"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/461 ! AMELX relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/461 {source="mim2gene_medgen"} ! AMELX @@ -201752,6 +203725,7 @@ name: X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 def: "An amelogenesis imperfecta associated with mutation in a gene in the Xq22-q28 region." [DOID:0110059, PMID:1358807] synonym: "AIH3" EXACT [DOID:0110059] synonym: "AIH3 ( formerly)" RELATED [GARD:0009944] +synonym: "amelogenesis imperfecta type IE X-linked 2" EXACT [DOID:0110059] synonym: "amelogenesis imperfecta 3 hypoplastic type" EXACT DEPRECATED [DOID:0110059] synonym: "amelogenesis imperfecta 3, hypoplastic type" RELATED DEPRECATED [OMIM:301201] synonym: "amelogenesis imperfecta 3, hypoplastic type (formerly)" RELATED [GARD:0009944] @@ -201770,7 +203744,7 @@ xref: Orphanet:100031 {source="OMIM:301201", source="MONDO:subClassOf"} xref: UMLS:C1845051 {source="OMIM:301201", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0015047 {source="ORDO:100031/btnt"} ! hypoplastic amelogenesis imperfecta -is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:301201"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="DOID:0110059", source="MONDO:Redundant", source="OMIM:301201"} ! amelogenesis imperfecta property_value: confidence "1.2580117077907054" xsd:double [Term] @@ -201838,7 +203812,7 @@ xref: SCTID:719816006 {source="MONDO:equivalentTo"} xref: UMLS:C1845028 {source="OMIM:301310", source="NCBI:mim2gene_medline", source="ORDO:2802/e", source="Orphanet:2802", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} xref: UMLS:C4304338 {source="MEDGEN:kboom-pr96-c96", source="MONDO:equivalentTo"} is_a: MONDO:0010419 ! X-linked sideroblastic anemia -is_a: MONDO:0015194 {source="MESH:C536358", source="MONDO:Redundant", source="Orphanet:2802/inferred"} ! sideroblastic anemia +is_a: MONDO:0015194 {source="DOID:0050554", source="DOID:0060064", source="MESH:C536358", source="MONDO:Redundant", source="Orphanet:2802/inferred", source="linkedlifedata"} ! sideroblastic anemia is_a: MONDO:0016612 {source="Orphanet:2802"} ! X-linked cerebellar ataxia is_a: MONDO:0016803 {source="Orphanet:2802"} ! unspecified inborn mitochondrial disorder is_a: MONDO:0020099 {source="Orphanet:2802"} ! constitutional sideroblastic anemia @@ -201904,7 +203878,7 @@ xref: SCTID:190796008 {source="DOID:14499"} xref: SCTID:236536000 {source="DOID:14499"} xref: UMLS:C0002986 {source="NCBI:mim2gene_medline", source="OMIM:301500", source="DOID:14499", source="ORDO:324/e", source="MONDO:equivalentTo", source="Orphanet:324"} xref: UMLS:C1970820 {source="OMIM:301500"} -is_a: MONDO:0002561 {source="MESH:D000795/inferred", source="MONDO:Redundant", source="NCIT:C84701", source="Orphanet:324/inferred", source="PMID:21723623"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="DOID:14499/inferred", source="MESH:D000795/inferred", source="MONDO:Redundant", source="NCIT:C84701", source="Orphanet:324/inferred", source="PMID:21723623"} ! lysosomal storage disease is_a: MONDO:0015327 {source="Orphanet:324"} ! developmental anomaly of metabolic origin is_a: MONDO:0015948 {source="Orphanet:324"} ! rare genetic skin vascular disorder is_a: MONDO:0016133 {source="Orphanet:324"} ! rare hereditary metabolic disease with peripheral neuropathy @@ -202021,7 +203995,7 @@ xref: UMLS:C1844935 {source="NCBI:mim2gene_medline", source="OMIM:301815", sourc xref: UMLS:C2931745 {source="ORDO:1484/e", source="Orphanet:1484"} is_a: MONDO:0015335 {source="Orphanet:1484"} ! orofacial clefting syndrome is_a: MONDO:0015983 {source="Orphanet:1484"} ! rare genetic syndromic intellectual disability -is_a: MONDO:0019287 {source="MONDOLEX:0010531", source="Orphanet:1484", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MONDOLEX:0010531", source="Orphanet:1484", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome property_value: confidence "8.6" xsd:double [Term] @@ -202294,7 +204268,9 @@ synonym: "cardiomyopathy, dilated, 3B; CMD3B" RELATED [OMIM:302045] synonym: "cardiomyopathy, dilated, type 3B" EXACT [MONDORULE:4, OMIM:302045] synonym: "cardiomyopathy, dilated, X-linked" RELATED [OMIM:302045] synonym: "CMD3B" EXACT [DOID:0110461, MONDO:Lexical, OMIM:302045] +synonym: "dilated cardiomyopathy caused by mutation in DMD" EXACT [MONDO:design_pattern] synonym: "dilated cardiomyopathy type 3B" EXACT [DOID:0110461, MONDORULE:4] +synonym: "DMD dilated cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "DMD-related dilated cardiomyopathy" RELATED [DOID:0060561] xref: DOID:0060561 {source="MONDO:equivalentTo"} xref: DOID:0110461 {source="MONDO:equivalentTo"} @@ -202372,6 +204348,8 @@ synonym: "cataract, congenital total, with posterior sutural opacities 1N hetero synonym: "cataract, congenital, with microcornea or slight microphthalmia" RELATED [GARD:0008278] synonym: "cataract, congenital, X-linked" RELATED [OMIM:302200] synonym: "CTRCT40" EXACT [DOID:0110272, MONDO:Lexical, OMIM:302200] +synonym: "early-onset non-syndromic cataract caused by mutation in NHS" EXACT [MONDO:design_pattern] +synonym: "NHS early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] xref: DOID:0110272 {source="MONDO:equivalentTo"} xref: GARD:0008278 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110272"} @@ -202382,7 +204360,7 @@ xref: Orphanet:98991 {source="OMIM:302200", source="MONDO:subClassOf", source="M xref: Orphanet:98994 {source="MONDO:directSiblingOf", source="OMIM:302200", source="MONDO:subClassOf"} xref: UMLS:C2752078 {source="NCBI:mim2gene_medline"} xref: UMLS:C2930878 {source="OMIM:302200"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C535338", source="MONDO:Redundant", source="OMIM:302200"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110272", source="MESH:C535338", source="MONDO:Redundant", source="OMIM:302200"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7820 ! NHS @@ -202472,6 +204450,7 @@ name: Charcot-Marie-tooth disease X-linked dominant 1 def: "Charcot-Marie-Tooth neuropathy that is inherited in an X-linked manner, and is associated with mutation(s) in the GJB1 gene, encoding gap junction beta-1 protein. The condition is characterized by moderate to severe motor and sensory neuropathy in males, and mild to no symptoms in females." [NCIT:C129068] subset: ordo_disease {source="Orphanet:101075"} synonym: "Charcot Marie Tooth disease X-linked 1" RELATED [GARD:0001258] +synonym: "Charcot-Marie-tooth disease type X caused by mutation in GJB1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease X-linked dominant type 1" EXACT [DOID:0110209, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 1" RELATED [MONDO:Lexical, OMIM:302800] synonym: "Charcot-Marie-Tooth disease, X-linked dominant, 1; CMTX1" RELATED [OMIM:302800] @@ -202487,6 +204466,7 @@ synonym: "CMT2, formerly" RELATED [OMIM:302800] synonym: "Cmtx" RELATED [OMIM:302800] synonym: "CMTX 1" RELATED [GARD:0001258] synonym: "CMTX1" EXACT [DOID:0110209, MONDO:Lexical, OMIM:302800, Orphanet:101075] +synonym: "GJB1 Charcot-Marie-tooth disease type X" EXACT [MONDO:design_pattern] synonym: "hereditary motor and sensory neuropathy, X-linked" RELATED [OMIM:302800] synonym: "HMSN, X-linked" RELATED [OMIM:302800] synonym: "X-linked Charcot-Marie-Tooth disease type 1" EXACT [DOID:0110209] @@ -202498,7 +204478,7 @@ xref: NCIT:C129068 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equiv xref: OMIM:302800 {source="Orphanet:101075", source="DOID:0110209", source="ORDO:101075/e", source="MONDO:equivalentTo"} xref: Orphanet:101075 {source="OMIM:302800", source="DOID:0110209", source="MONDO:equivalentTo"} xref: UMLS:C0393808 {source="NCBI:mim2gene_medline", source="Orphanet:101075", source="OMIM:302800", source="ORDO:101075/e", source="MONDO:equivalentTo", source="NCIT:C129068"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="NCIT:C129068", source="OMIM:302800", source="Orphanet:101075/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110209/inferred", source="MONDO:Redundant", source="NCIT:C129068", source="OMIM:302800", source="Orphanet:101075/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018994 {source="DOID:0110209", source="MONDOLEX:0010549", source="Orphanet:101075"} ! Charcot-Marie-tooth disease type X intersection_of: MONDO:0018994 ! Charcot-Marie-tooth disease type X intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4283 ! GJB1 @@ -202526,7 +204506,7 @@ xref: MESH:C535302 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:302801 {source="Orphanet:101076", source="DOID:0110208", source="ORDO:101076/e", source="MONDO:equivalentTo"} xref: Orphanet:101076 {source="DOID:0110208", source="MONDO:equivalentTo", source="OMIM:302801"} xref: UMLS:C1844873 {source="NCBI:mim2gene_medline", source="Orphanet:101076", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:302801"} -is_a: MONDO:0015626 {source="MESH:C535302", source="MONDO:Redundant", source="OMIM:302801", source="Orphanet:101076/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110208/inferred", source="MESH:C535302", source="MONDO:Redundant", source="OMIM:302801", source="Orphanet:101076/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018994 {source="DOID:0110208", source="MONDOLEX:0010550", source="Orphanet:101076"} ! Charcot-Marie-tooth disease type X property_value: confidence "38.35185185185186" xsd:double @@ -202552,7 +204532,7 @@ xref: MESH:C535303 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:302802 {source="DOID:0110211", source="Orphanet:101077", source="MONDO:equivalentTo", source="ORDO:101077/e"} xref: Orphanet:101077 {source="DOID:0110211", source="MONDO:equivalentTo", source="OMIM:302802"} xref: UMLS:C1844865 {source="NCBI:mim2gene_medline", source="Orphanet:101077", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:302802"} -is_a: MONDO:0015626 {source="MESH:C535303", source="MONDO:Redundant", source="OMIM:302802", source="Orphanet:101077/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110211/inferred", source="MESH:C535303", source="MONDO:Redundant", source="OMIM:302802", source="Orphanet:101077/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018994 {source="DOID:0110211", source="MONDOLEX:0010551", source="Orphanet:101077"} ! Charcot-Marie-tooth disease type X property_value: confidence "38.35185185185186" xsd:double @@ -202609,6 +204589,7 @@ def: "Brachytelephalangic chondrodysplasia punctata (BCDP) is a form of nonrhizo subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:79345"} subset: prototype_pattern +synonym: "ARSE X-linked chondrodysplasia punctata" EXACT [MONDO:design_pattern] synonym: "arylsulfatase E deficiency" RELATED [GARD:0001296] synonym: "brachytelephalangic chondrodysplasia punctata" EXACT [Orphanet:79345] synonym: "CDPX1" RELATED [GARD:0001296, MONDO:Lexical, OMIM:302950] @@ -202620,6 +204601,7 @@ synonym: "chondrodysplasia punctata, Brachytelephalangic" RELATED [OMIM:302950] synonym: "chondrodysplasia punctata, brachytelephalangic" RELATED [GARD:0001296] synonym: "CPXR" RELATED [GARD:0001296] synonym: "Cpxr" RELATED [OMIM:302950] +synonym: "X-linked chondrodysplasia punctata caused by mutation in ARSE" EXACT [MONDO:design_pattern] xref: GARD:0001296 {source="MONDO:equivalentTo"} xref: ICD10:Q77.3 {source="ORDO:79345/attributed", source="Orphanet:79345", source="MONDO:subClassOf", source="ORDO:79345/ntbt"} xref: MESH:C535941 {source="ORDO:79345/e", source="Orphanet:79345"} @@ -202712,7 +204694,7 @@ xref: SCTID:75241009 {source="DOID:9821", source="MONDO:kboom-pr-1.00/0.85/15.45 xref: UMLS:C0008525 {source="NCBI:mim2gene_medline", source="OMIM:303100", source="ORDO:180/e", source="DOID:9821", source="NCIT:C34469", source="Orphanet:180", source="MONDO:equivalentTo"} xref: UMLS:C0344297 {source="OMIM:303100"} is_a: MONDO:0000425 {source="MESH:D015794"} ! X-linked disease -is_a: MONDO:0001898 {source="DOID:9821", source="MESH:D015794", source="linkedlife/inferred"} ! optic choroid disease +is_a: MONDO:0001898 {source="DOID:9821", source="MESH:D015794", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic choroid disease is_a: MONDO:0004580 {source="DOID:9821", source="MONDO:Redundant"} ! retinal degeneration is_a: MONDO:0020241 {source="Orphanet:180"} ! unclassified familial retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1940 {source="mim2gene_medgen"} ! CHM @@ -202737,8 +204719,9 @@ xref: Orphanet:1435 {source="OMIM:303110", source="MONDO:equivalentTo"} xref: SCTID:717761005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.37"} xref: UMLS:C1844836 {source="NCBI:mim2gene_medline", source="Orphanet:1435", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} xref: UMLS:C3551019 {source="OMIM:303110"} -is_a: MONDO:0004589 {source="OWLReasoner:2017", source="linkedlifedata"} ! hereditary retinal dystrophy +is_a: MONDO:0004589 {source="linkedlifedata"} ! obsolete hereditary retinal dystrophy is_a: MONDO:0016565 {source="Orphanet:1435"} ! syndromic obesity +is_a: MONDO:0019118 {source="OWLReasoner:2017", source="linkedlifedata"} ! inherited retinal dystrophy is_a: MONDO:0019589 {source="Orphanet:1435"} ! syndromic genetic deafness is_a: MONDO:0020241 {source="Orphanet:1435"} ! unclassified familial retinal dystrophy property_value: confidence "8.333333333333334" xsd:double @@ -202779,7 +204762,7 @@ xref: Orphanet:275543 {source="MONDO:subClassOf", source="OMIM:303350"} xref: SCTID:716996008 {source="MONDO:kboom-pr-0.86/0.69/0.23", source="MONDO:equivalentTo"} xref: UMLS:C0795953 {source="NCBI:mim2gene_medline", source="ORDO:2466/e", source="NCIT:C129930", source="OMIM:303350", source="Orphanet:2466", source="DOID:0060246", source="MONDO:equivalentTo"} is_a: MONDO:0017140 {source="Orphanet:2466"} ! L1 syndrome -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:303350", source="Orphanet:2466/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0060246", source="MONDO:Redundant", source="OMIM:303350", source="Orphanet:2466/inferred"} ! hereditary spastic paraplegia is_a: MONDO:0020339 {source="Orphanet:2466"} ! X-linked complex spastic paraplegia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6470 {source="mim2gene_medgen"} ! L1CAM property_value: confidence "0.5277777777777779" xsd:double @@ -202954,7 +204937,7 @@ xref: Orphanet:319691 {source="OMIM:303900"} xref: SCTID:51445007 {source="DOID:13910", source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:0005580", source="MONDO:equivalentTo"} xref: UMLS:C0155015 {source="DOID:13910", source="NCBI:mim2gene_medline", source="OMIM:303900"} xref: UMLS:C1419325 {source="OMIM:303900"} -is_a: MONDO:0005328 {source="EFO:0005580/inferred", source="MONDO:Redundant", source="OMIM:303900/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! eye disease +is_a: MONDO:0005328 {source="DOID:13910/inferred", source="EFO:0005580/inferred", source="MONDO:Redundant", source="OMIM:303900/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease is_a: MONDO:0010564 ! red-green color blindness relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9936 {source="mim2gene_medgen"} ! OPN1LW relationship: disease_has_location UBERON:0010230 ! eyeball of camera-type eye @@ -203026,7 +205009,7 @@ xref: OMIM:304050 {source="ORDO:50/e", source="Orphanet:50", source="MONDO:equiv xref: Orphanet:50 {source="OMIM:304050", source="MONDO:equivalentTo", source="DOID:8461"} xref: SCTID:80651009 {source="MONDO:kboom-pr-1.00/0.74/6.35", source="MONDO:equivalentTo", source="DOID:8461"} xref: UMLS:C0175713 {source="NCBI:mim2gene_medline", source="ORDO:50/e", source="NCIT:C35256", source="Orphanet:50", source="OMIM:304050", source="MONDO:equivalentTo", source="DOID:8461"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35256"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:8461", source="MONDO:Redundant", source="NCIT:C35256"} ! syndromic disease is_a: MONDO:0015218 {source="Orphanet:50"} ! syndromic developmental defect of the eye is_a: MONDO:0015655 {source="Orphanet:50"} ! cerebral malformation with epilepsy is_a: MONDO:0015945 {source="Orphanet:50"} ! polymalformative genetic syndrome with increased risk of developing cancer @@ -203149,7 +205132,7 @@ xref: SCTID:59399004 {source="MONDO:kboom-pr-1.00/0.79/8.46", source="MONDO:equi xref: UMLS:C0268353 {source="ORDO:198/e", source="NCBI:mim2gene_medline", source="Orphanet:198", source="OMIM:304150"} xref: UMLS:C1096660 {source="Orphanet:198"} is_a: MONDO:0015160 {source="Orphanet:198"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome -is_a: MONDO:0016175 {source="MESH:C537860", source="Orphanet:198", source="linkedlifedata"} ! cutis laxa +is_a: MONDO:0016175 {source="MESH:C537860", source="Orphanet:198", source="linkedlifedata", source="linkedlifedata/inferred"} ! cutis laxa is_a: MONDO:0017762 {source="Orphanet:198", source="linkedlifedata"} ! disorder of copper metabolism is_a: MONDO:0043007 {source="Orphanet:198"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/869 {source="mim2gene_medgen"} ! ATP7A @@ -203392,7 +205375,7 @@ xref: OMIM:304730 {source="GARD:0002580", source="ORDO:1661/e", source="MONDO:eq xref: Orphanet:1661 {source="OMIM:304730", source="MONDO:equivalentTo"} xref: SCTID:715426004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1844671 {source="NCBI:mim2gene_medline", source="GARD:0002580", source="OMIM:304730", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="Orphanet:1661"} -is_a: MONDO:0000942 {source="MESH:C535376", source="MONDO:Redundant", source="linkedlife/inferred"} ! corneal disease +is_a: MONDO:0000942 {source="MESH:C535376", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0020215 {source="Orphanet:1661"} ! syndromic corneal dystrophy property_value: confidence "3.533333333333334" xsd:double @@ -203489,7 +205472,9 @@ property_value: confidence "0.06451612903225823" xsd:double id: MONDO:0010583 name: Dyggve-Melchior-Clausen syndrome, X-linked def: "X-linked form of Dyggve-Melchior-Clausen disease." [MONDO:patterns/x_linked] +synonym: "Dyggve-Melchior-Clausen disease, X-linked" EXACT [MONDO:design_pattern] synonym: "Dyggve-Melchior-Clausen syndrome, X-linked" EXACT [OMIM:304950] +synonym: "X-linked Dyggve-Melchior-Clausen disease" EXACT [MONDO:design_pattern] xref: OMIM:304950 {source="MONDO:equivalentTo"} xref: Orphanet:239 {source="OMIM:304950", source="MONDO:subClassOf"} xref: UMLS:C1844654 {source="NCBI:mim2gene_medline", source="OMIM:304950", source="MONDO:equivalentTo"} @@ -203509,6 +205494,7 @@ synonym: "dyskeratosis congenita, X-linked" EXACT [MONDO:Lexical, OMIM:305000] synonym: "dyskeratosis congenita, X-linked; DKCX" RELATED [OMIM:305000] synonym: "Growth retardation, prenatal, with progressive pancytopenia and cerebellar hypoplasia" RELATED [OMIM:305000] synonym: "Hoyeraal-Hreidarsson syndrome" RELATED [OMIM:305000] +synonym: "X-linked dyskeratosis congenita" RELATED [DOID:0070025] synonym: "Zinsser-Cole-Engman syndrome" EXACT [DOID:0070025, OMIM:305000] xref: DOID:0070025 {source="MONDO:equivalentTo"} xref: NCIT:C126352 {source="MONDO:equivalentTo"} @@ -203590,6 +205576,7 @@ synonym: "EDV2" RELATED [MONDO:Lexical, OMIM:305350] synonym: "EDVX" RELATED [OMIM:305350] synonym: "epidermodysplasia verruciformis, X-linked; EDVX" RELATED [MONDO:Lexical, OMIM:305350] synonym: "epidermodysplasia verruciformis, X-linked; EDVX; EDV2" RELATED [OMIM:305350] +synonym: "X-linked epidermodysplasia verruciformis" EXACT [MONDO:design_pattern] xref: MESH:C564430 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:305350 {source="MONDO:equivalentTo"} xref: Orphanet:302 {source="OMIM:305350", source="MONDO:subClassOf"} @@ -203607,8 +205594,10 @@ synonym: "EVR2" RELATED [MONDO:Lexical, OMIM:305390] synonym: "Evrx" RELATED [OMIM:305390] synonym: "exudative vitreoretinopathy 2, X-linked" EXACT [MONDO:Lexical, OMIM:305390] synonym: "exudative vitreoretinopathy 2, X-linked; EVR2" RELATED [OMIM:305390] +synonym: "exudative vitreoretinopathy caused by mutation in NDP" EXACT [MONDO:design_pattern] synonym: "exudative vitreoretinopathy, familial, 2" RELATED [OMIM:305390] synonym: "Fevr, X-linked" RELATED [OMIM:305390] +synonym: "NDP exudative vitreoretinopathy" EXACT [MONDO:design_pattern] xref: MESH:C564428 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:305390 {source="MONDO:equivalentTo"} xref: Orphanet:891 {source="MONDO:subClassOf", source="OMIM:305390"} @@ -203658,7 +205647,7 @@ xref: UMLS:C1844569 {source="OMIM:305400"} xref: UMLS:C3275558 {source="OMIM:305400"} is_a: MONDO:0000425 {source="MESH:C535331"} ! X-linked disease is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C129720"} ! syndromic disease -is_a: MONDO:0015329 {source="Orphanet:915"} ! malformation syndrome with short stature +is_a: MONDO:0015329 {source="Orphanet:915", source="linkedlifedata"} ! malformation syndrome with short stature is_a: MONDO:0015620 {source="Orphanet:915"} ! syndromic urogenital tract malformation is_a: MONDO:0019520 {source="MONDO:Entailed", source="Orphanet:915"} ! syndromic lymphedema is_a: MONDO:0021005 ! faciodigitogenital syndrome @@ -203674,8 +205663,10 @@ name: FG syndrome 1 def: "Any FG syndrome in which the cause of the disease is a mutation in the MED12 gene." [MONDO:patterns/disease_series_by_gene] synonym: "FG syndrome" RELATED [OMIM:305450] synonym: "FG syndrome 1" EXACT [OMIM:305450] +synonym: "FG syndrome caused by mutation in MED12" EXACT [MONDO:design_pattern] synonym: "FG syndrome type 1" RELATED [Orphanet:93932] synonym: "Keller syndrome" RELATED [OMIM:305450] +synonym: "MED12 FG syndrome" EXACT [MONDO:design_pattern] synonym: "mental retardation, large head, imperforate anus, congenital hypotonia, and partial agenesis of corpus callosum" RELATED [OMIM:305450] synonym: "OKS" RELATED [MONDO:Lexical, OMIM:305450] synonym: "Opitz-Kaveggia syndrome" RELATED [MONDO:Lexical, OMIM:305450] @@ -203816,7 +205807,8 @@ is_a: MONDO:0003847 {source="MESH:C564422/inferred"} ! inherited genetic disease [Term] id: MONDO:0010598 name: glycogen storage disease IXa -def: "A glycogen storage disease IX characterized by X-linked inheritance of hepatomegaly, growth retardation, elevation of glutamate-pyruvate transaminase and glutamate-oxaloacetate transaminase, hypercholesterolemia, hypertriglyceridemia, and fasting hyperketosis, but symptoms gradually disappear with age, that has material_basis_in mutation in the PHKA2 gene on chromosome Xp22." [DOID:0111042, PMID:2303074, PMID:7711737] +def: "Any glycogen storage disease in which the cause of the disease is a mutation in the PHKA2 gene." [MONDO:design_pattern] +synonym: "glycogen storage disease caused by mutation in PHKA2" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease IXa1" RELATED [MONDO:Lexical, OMIM:306000] synonym: "glycogen storage disease IXa1; GSD9A1" RELATED [OMIM:306000] synonym: "glycogen storage disease Ixa2" RELATED [OMIM:306000] @@ -203835,6 +205827,7 @@ synonym: "GSD9A" EXACT [DOID:0111042] synonym: "GSD9A1" RELATED [MONDO:Lexical, OMIM:306000] synonym: "liver glycogenosis, X-linked, type 1" RELATED [OMIM:306000] synonym: "liver glycogenosis, X-linked, type 2" RELATED [OMIM:306000] +synonym: "PHKA2 glycogen storage disease" EXACT [MONDO:design_pattern] xref: DOID:0111042 {source="MONDO:equivalentTo"} xref: ICD10:E74.0 {source="MONDO:subClassOf", source="DOID:0111042"} xref: MESH:C564421 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -203845,6 +205838,8 @@ xref: UMLS:C1418533 {source="OMIM:306000"} xref: UMLS:C1844412 {source="OMIM:306000"} xref: UMLS:C2748941 {source="OMIM:306000"} is_a: MONDO:0013091 {source="MONDOLEX:0010598", source="ORDO:264580/btnt"} ! glycogen storage disease IXc +intersection_of: MONDO:0002412 {source="mim2gene_medgen"} ! glycogen storage disease +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8926 {source="mim2gene_medgen"} ! PHKA2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8926 {source="mim2gene_medgen"} ! PHKA2 property_value: confidence "0.7971874999999999" xsd:double @@ -204034,7 +206029,9 @@ synonym: "heterotaxy, visceral, X-linked" RELATED [GARD:0008591] synonym: "HTX1" RELATED [MONDO:Lexical, OMIM:306955] synonym: "laterality, X-linked" RELATED [OMIM:306955] synonym: "situs inversus, Complex Cardiac defects, and splenic defects, X-linked" RELATED [OMIM:306955] +synonym: "visceral heterotaxy caused by mutation in ZIC3" EXACT [MONDO:design_pattern] synonym: "X-linked visceral heterotaxy 1" RELATED [GARD:0008591] +synonym: "ZIC3 visceral heterotaxy" EXACT [MONDO:design_pattern] xref: GARD:0008591 {source="MONDO:equivalentTo"} xref: MESH:C538116 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:306955 {source="MONDO:equivalentTo"} @@ -204271,7 +206268,7 @@ xref: Orphanet:2238 {source="OMIM:307700", source="MONDO:subClassOf"} xref: Orphanet:2239 {source="OMIM:307700", source="MONDO:equivalentTo"} xref: UMLS:C0342344 {source="NCBI:mim2gene_medline", source="OMIM:307700"} xref: UMLS:C1386942 {source="OMIM:307700"} -is_a: MONDO:0001220 {source="NCIT:C131079"} ! hypoparathyroidism +is_a: MONDO:0001220 {source="MESH:C563238", source="NCIT:C131079"} ! hypoparathyroidism is_a: MONDO:0007796 ! hypoparathyroidism, familial isolated; FIH property_value: confidence "0.11111111111111116" xsd:double @@ -204294,6 +206291,7 @@ synonym: "hypophosphatemic rickets, X-linked dominant; XLHR" RELATED [OMIM:30780 synonym: "hypophosphatemic Vitamin D-resistant rickets" RELATED [OMIM:307800] synonym: "rickets, Vitamin D-resistant" EXACT [DOID:0050445] synonym: "Vitamin D-resistant rickets, X-linked" EXACT [DOID:0050445, OMIM:307800] +synonym: "X-linked hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern] synonym: "X-linked hypophosphatemia" EXACT [DOID:0050445] synonym: "X-linked hypophosphatemic rickets" EXACT [Orphanet:89936] synonym: "XLH" EXACT [Orphanet:89936] @@ -204428,7 +206426,7 @@ xref: Orphanet:431 {source="OMIM:308200", source="MONDO:equivalentTo"} xref: SCTID:2355008 {source="MONDO:kboom-pr-1.00/0.75/6.52", source="MONDO:equivalentTo"} xref: UMLS:C0270709 {source="OMIM:308200"} xref: UMLS:C1839989 {source="NCBI:mim2gene_medline", source="OMIM:308200", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease [Term] id: MONDO:0010624 @@ -204484,6 +206482,7 @@ synonym: "hyper-IgM syndrome due to CD40 ligand deficiency" EXACT [Orphanet:1010 synonym: "hyper-IgM syndrome due to CD40L deficiency" EXACT [Orphanet:101088] synonym: "hyper-IgM syndrome type 1" EXACT [Orphanet:101088] synonym: "hyper-IgM syndrome, X-linked" EXACT [MONDO:patterns/x_linked] +synonym: "hyperimmunoglobulin M syndrome" EXACT [DOID:6620] synonym: "hyperimmunoglobulin M syndrome (disorder)" RELATED [DOID:6620] synonym: "IHIS" RELATED [GARD:0000073] synonym: "immunodeficiency 3" RELATED [OMIM:308230] @@ -204511,7 +206510,7 @@ xref: UMLS:C0398689 {source="OMIM:308230", source="NCBI:mim2gene_medline", sourc xref: UMLS:C2348037 {source="NCIT:C61244"} xref: Wikidata:Q3508611 {source="MONDO:cjm", source="MONDO:equivalentTo"} is_a: MONDO:0015975 {source="Orphanet:101088"} ! hyper-IgM syndrome with susceptibility to opportunistic infections -is_a: MONDO:0021094 {source="MONDO:Redundant", source="NCIT:C61244", source="linkedlifedata"} ! immunodeficiency syndrome +is_a: MONDO:0021094 {source="MONDO:Redundant", source="NCIT:C61244", source="linkedlifedata", source="linkedlifedata/inferred"} ! immunodeficiency syndrome intersection_of: MONDO:0003947 ! hyper-IgM syndrome intersection_of: has_modifier HP:0001417 ! X-linked inheritance relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11935 {source="mim2gene_medgen"} ! CD40LG @@ -204555,7 +206554,7 @@ xref: UMLS:C0549463 {source="OMIM:308240", source="NCIT:C61246", source="ORDO:24 is_a: MONDO:0000425 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! X-linked disease is_a: MONDO:0015541 {source="Orphanet:2442"} ! genetic hemophagocytic lymphohistiocytosis is_a: MONDO:0016537 {source="DC-OMIM:308240", source="DOID:0060705", source="MONDO:Entailed", source="Orphanet:2442"} ! lymphoproliferative syndrome -is_a: MONDO:0021094 {source="NCIT:C61246", source="linkedlifedata"} ! immunodeficiency syndrome +is_a: MONDO:0021094 {source="NCIT:C61246", source="linkedlifedata", source="linkedlifedata/inferred"} ! immunodeficiency syndrome intersection_of: MONDO:0016537 ! lymphoproliferative syndrome intersection_of: has_modifier HP:0001417 ! X-linked inheritance property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7906/x-linked-lymphoproliferative-syndrome-1 xsd:anyURI {source="GARD:0007906"} @@ -204593,6 +206592,7 @@ synonym: "Bloch-Siemens syndrome" EXACT [Orphanet:464] synonym: "Bloch-Sulzberger syndrome" EXACT [OMIM:308300, Orphanet:464] synonym: "incontinentia pigmenti" RELATED [MONDO:Lexical, OMIM:308300] synonym: "Incontinentia pigmenti (disorder)" EXACT [DOID:12305, SCTID:205567005] +synonym: "Incontinentia pigmenti syndrome" EXACT [DOID:12305] synonym: "Incontinentia pigmenti syndrome (disorder)" EXACT [DOID:12305, SCTID:367520004] synonym: "Incontinentia pigmenti type 2 (formerly)" RELATED [GARD:0006778] synonym: "Incontinentia pigmenti, familial Male-lethal type" RELATED [OMIM:308300] @@ -204634,6 +206634,8 @@ property_value: confidence "2.75" xsd:double id: MONDO:0010632 name: epileptic encephalopathy, early infantile, 1 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARX gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ARX early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] +synonym: "early infantile epileptic encephalopathy caused by mutation in ARX" EXACT [MONDO:design_pattern] synonym: "EIEE1" RELATED [MONDO:Lexical, OMIM:308350] synonym: "epileptic encephalopathy, early infantile, 1" EXACT [MONDO:Lexical, OMIM:308350] synonym: "epileptic encephalopathy, early infantile, 1; EIEE1" RELATED [OMIM:308350] @@ -204683,6 +206685,7 @@ id: MONDO:0010635 name: hypogonadotropic hypogonadism 1 with or without anosmia def: "The X-linked inherited form of Kallmann syndrome caused by mutation of the KAL1 gene mapped to chromosome Xp22.3." [NCIT:C75480] subset: gard_rare +synonym: "ANOS1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] synonym: "anosmic hypogonadism" RELATED [OMIM:308700] synonym: "dysplasia Olfactogenitalis of De Morsier" RELATED [OMIM:308700] synonym: "dysplasia olfactogenitalis of de Morsier" EXACT [DOID:0090094] @@ -204690,6 +206693,7 @@ synonym: "HH1" RELATED [MONDO:Lexical, OMIM:308700] synonym: "hypogonadotropic hypogonadism 1 with or without anosmia" EXACT [MONDO:Lexical, OMIM:308700] synonym: "hypogonadotropic hypogonadism 1 with or without anosmia; HH1" RELATED [OMIM:308700] synonym: "hypogonadotropic hypogonadism and anosmia" RELATED [OMIM:308700] +synonym: "hypogonadotropic hypogonadism caused by mutation in ANOS1" EXACT [MONDO:design_pattern] synonym: "KAL1" RELATED [GARD:0003071] synonym: "Kallmann syndrome 1" RELATED [OMIM:308700] synonym: "Kallmann syndrome, type 1, X-linked" RELATED [GARD:0003071] @@ -204702,7 +206706,7 @@ xref: NCIT:C75480 {source="MONDO:kboom-pr-0.80/0.44/0.91", source="MONDO:equival xref: OMIM:308700 {source="GARD:0003071", source="DOID:0090094", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="GARD:0003071", source="MONDO:subClassOf"} xref: UMLS:C1563719 {source="NCBI:mim2gene_medline", source="OMIM:308700", source="MONDO:equivalentTo", source="NCIT:C75480"} -is_a: MONDO:0018555 {source="MONDO:0010635/inferred", source="MONDO:Redundant", source="MONDOLEX:0010635/inferred", source="NCIT:C75480/inferred", source="OMIM:308700"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090094", source="MONDO:0010635/inferred", source="MONDO:Redundant", source="MONDOLEX:0010635/inferred", source="NCIT:C75480/inferred", source="OMIM:308700"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="MONDOLEX:0010635", source="NCIT:C75480", source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6211 ! ANOS1 @@ -204873,7 +206877,7 @@ property_value: confidence "0.02266078636714486" xsd:double [Term] id: MONDO:0010645 name: oculocerebrorenal syndrome -def: "Oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." [Orphanet:534] +def: "oculocerebrorenal syndrome of Lowe (OCRL) is a multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, postnatal growth retardation and renal tubular dysfunction with chronic renal failure." [Orphanet:534] subset: ordo_malformation_syndrome {source="Orphanet:534"} synonym: "Lowe disease" EXACT [Orphanet:534] synonym: "Lowe oculo-cerebro-renal syndrome" EXACT [Orphanet:534] @@ -204908,7 +206912,7 @@ is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84940"} ! syndromic is_a: MONDO:0015218 {source="Orphanet:534"} ! syndromic developmental defect of the eye is_a: MONDO:0015920 {source="Orphanet:534"} ! syndromic neurometabolic disease with X-linked intellectual disability is_a: MONDO:0015962 {source="Orphanet:534"} ! inherited renal tubular disease -is_a: MONDO:0019216 {source="Orphanet:534", source="linkedlife"} ! inborn disorder of amino acid absorption and transport +is_a: MONDO:0019216 {source="Orphanet:534", source="linkedlifedata"} ! inborn disorder of amino acid absorption and transport is_a: MONDO:0019744 {source="Orphanet:534"} ! rare renal tubular disease is_a: MONDO:0020222 {source="Orphanet:534"} ! rare disease with glaucoma as a major feature is_a: MONDO:0020230 {source="Orphanet:534"} ! renal disease with cataract @@ -204930,11 +206934,13 @@ relationship: has_modifier HP:0001417 ! X-linked inheritance id: MONDO:0010647 name: spermatogenic failure, X-linked, 2 def: "Any azoospermia in which the cause of the disease is a mutation in the TEX11 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "azoospermia caused by mutation in TEX11" EXACT [MONDO:design_pattern] synonym: "Male infertility from defect 1N meiosis" RELATED [OMIM:309120] synonym: "spermatogenic failure, X-linked, 2" EXACT [MONDO:Lexical, OMIM:309120] synonym: "spermatogenic failure, X-linked, 2; SPGFX2" RELATED [OMIM:309120] synonym: "spermatogenic failure, X-linked, type 2" EXACT [MONDORULE:1, OMIM:309120] synonym: "SPGFX2" RELATED [MONDO:Lexical, OMIM:309120] +synonym: "TEX11 azoospermia" EXACT [MONDO:design_pattern] xref: OMIM:309120 {source="MONDO:equivalentTo"} xref: Orphanet:217034 {source="OMIM:309120"} xref: UMLS:C1839841 {source="OMIM:309120", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -204960,7 +206966,7 @@ xref: OMIM:309200 {source="DOID:0080221", source="MONDO:equivalentTo"} xref: UMLS:C1839839 {source="NCBI:mim2gene_medline", source="OMIM:309200"} is_a: MONDO:0000693 {source="DOID:0080221"} ! bipolar II disorder is_a: MONDO:0003847 {source="MESH:C564108/inferred"} ! inherited genetic disease -is_a: MONDO:0004985 {source="DC-OMIM:309200", source="MESH:C564108", source="MONDO:cjm"} ! bipolar disorder +is_a: MONDO:0004985 {source="DC-OMIM:309200", source="DOID:0080221/inferred", source="MESH:C564108", source="MONDO:cjm"} ! bipolar disorder [Term] id: MONDO:0010649 @@ -205278,11 +207284,13 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2378/fragile- id: MONDO:0010660 name: intellectual disability, X-linked 9 def: "Any non-syndromic X-linked intellectual disability in which the cause of the disease is a mutation in the FTSJ1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FTSJ1 non-syndromic X-linked intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, X-linked 44" RELATED [OMIM:309549] synonym: "mental retardation, X-linked 9" RELATED [MONDO:Lexical, OMIM:309549] synonym: "mental retardation, X-linked 9; MRX9" RELATED [OMIM:309549] synonym: "mental retardation, X-linked type 9" EXACT [MONDORULE:1, OMIM:309549] synonym: "MRX9" RELATED [MONDO:Lexical, OMIM:309549] +synonym: "non-syndromic X-linked intellectual disability caused by mutation in FTSJ1" EXACT [MONDO:design_pattern] xref: MESH:C563137 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:309549 {source="MONDO:equivalentTo"} xref: Orphanet:777 {source="MONDO:subClassOf", source="OMIM:309549"} @@ -205513,11 +207521,13 @@ name: syndactyly type 8 def: "Syndactyly type 8 is a rare, genetic, non-syndromic, congenital limb malformation characterized by unilateral or bilateral fusion of the fourth and fifth metacarpals with no other associated abnomalities. Patients present shortened fourth and fifth metacarpals with excessive separation between their distal ends, resulting in marked ulnar deviation of the little finger and an inability to bring the fifth finger in parallel with the other fingers." [Orphanet:2498] subset: gard_rare subset: ordo_morphological_anomaly {source="Orphanet:2498"} +synonym: "FGF16 non-syndromic syndactyly" EXACT [MONDO:design_pattern] synonym: "fusion of metacarpals 4 and 5" EXACT [Orphanet:2498] synonym: "metacarpal 4-5 fusion" RELATED [MONDO:Lexical, OMIM:309630] synonym: "metacarpal 4-5 fusion; MF4" RELATED [OMIM:309630] synonym: "metacarpals 4 and 5 fusion" RELATED [GARD:0003559] synonym: "MF4" RELATED [MONDO:Lexical, OMIM:309630] +synonym: "non-syndromic syndactyly caused by mutation in FGF16" EXACT [MONDO:design_pattern] xref: GARD:0003559 {source="MONDO:equivalentTo"} xref: ICD10:Q70.0 {source="Orphanet:2498", source="ORDO:2498/attributed", source="ORDO:2498/ntbt"} xref: MESH:C564100 {source="MONDO:equivalentTo"} @@ -205628,7 +207638,7 @@ synonym: "I2S deficiency" RELATED [GARD:0006675] synonym: "Ids deficiency" RELATED [OMIM:309900] synonym: "iduronate 2-sulfatase deficiency" EXACT [Orphanet:580] synonym: "iduronate 2-sulfatase deficiency" RELATED [OMIM:309900] -synonym: "Mps 2" RELATED [OMIM:309900] +synonym: "MPS 2" RELATED [OMIM:309900] synonym: "MPS II" RELATED [GARD:0006675] synonym: "MPS II - Hunter syndrome" EXACT [DOID:12799] synonym: "MPS2" EXACT [MONDO:Lexical, OMIM:309900, Orphanet:580] @@ -205660,7 +207670,7 @@ is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C61260"} ! syndromic is_a: MONDO:0015920 {source="Orphanet:580"} ! syndromic neurometabolic disease with X-linked intellectual disability is_a: MONDO:0016326 {source="Orphanet:580"} ! lysosomal disease with hypertrophic cardiomyopathy is_a: MONDO:0019058 {source="Orphanet:580"} ! neurometabolic disease -is_a: MONDO:0019249 {source="MESH:D016532", source="MONDO:Redundant", source="NCIT:C61260", source="OMIM:309900", source="Orphanet:580", source="linkedlifedata"} ! mucopolysaccharidosis +is_a: MONDO:0019249 {source="DOID:12799", source="MESH:D016532", source="MONDO:Redundant", source="NCIT:C61260", source="OMIM:309900", source="Orphanet:580", source="linkedlifedata"} ! mucopolysaccharidosis is_a: MONDO:0019302 {source="Orphanet:580"} ! mucopolysaccharidosis with skin involvement is_a: MONDO:0019706 {source="Orphanet:580"} ! lysosomal storage disease with skeletal involvement is_a: MONDO:0020169 {source="Orphanet:580"} ! rare disorder with ptosis @@ -205734,7 +207744,7 @@ xref: SCTID:76670001 {source="DOID:11723", source="MONDO:kboom-pr-1.00/0.91/29.6 xref: UMLS:C0013264 {source="DOID:11723", source="NCBI:mim2gene_medline", source="OMIM:310200", source="ORDO:98896/e", source="Orphanet:98896", source="NCIT:C75482", source="MONDO:equivalentTo"} is_a: MONDO:0016147 {source="MONDO:Redundant", source="Orphanet:98896"} ! qualitative or quantitative defects of dystrophin is_a: MONDO:0016899 {source="Orphanet:98896"} ! Duchenne and Becker muscular dystrophy -is_a: MONDO:0020121 {source="MESH:D020388", source="MONDO:Redundant", source="NCIT:C75482", source="Orphanet:98896/inferred", source="linkedlifedata"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:11723", source="MESH:D020388", source="MONDO:Redundant", source="NCIT:C75482", source="Orphanet:98896/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy is_a: MONDO:0020259 {source="Orphanet:98896"} ! myopathy with eye involvement relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2928 {source="mim2gene_medgen"} ! DMD property_value: confidence "3.666666666666666" xsd:double @@ -205865,8 +207875,8 @@ synonym: "MYP1" EXACT [MONDO:Lexical, OMIM:310460] xref: MESH:C564091 {source="MONDO:equivalentTo"} xref: OMIM:310460 {source="MONDO:equivalentTo"} xref: UMLS:C1839612 {source="OMIM:310460", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0001384 {source="DC-OMIM:310460", source="OMIM:310460"} ! myopia (disease) -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0001384 {source="DC-OMIM:310460", source="MESH:C564091", source="OMIM:310460"} ! myopia (disease) +is_a: MONDO:0003847 {source="MESH:C564091/inferred"} ! inherited genetic disease [Term] id: MONDO:0010686 @@ -205953,7 +207963,7 @@ xref: ICD10:G60.0 {source="DOID:0110212", source="Orphanet:101078", source="ORDO xref: OMIM:310490 {source="DOID:0110212", source="Orphanet:101078", source="MONDO:equivalentTo", source="ORDO:101078/e"} xref: Orphanet:101078 {source="DOID:0110212", source="OMIM:310490", source="MONDO:equivalentTo"} xref: UMLS:C0795910 {source="NCBI:mim2gene_medline", source="Orphanet:101078", source="OMIM:310490"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:310490", source="Orphanet:101078/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110212/inferred", source="MONDO:Redundant", source="OMIM:310490", source="Orphanet:101078/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018994 {source="DOID:0110212", source="MONDOLEX:0010689", source="Orphanet:101078"} ! Charcot-Marie-tooth disease type X relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8768 {source="mim2gene_medgen"} ! AIFM1 property_value: confidence "38.35185185185186" xsd:double @@ -205964,6 +207974,7 @@ name: congenital stationary night blindness 1A def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the NYX gene." [MONDO:patterns/disease_series_by_gene] synonym: "complete CSNB X-linked" EXACT [DOID:0110870] synonym: "congenital stationary night blindness 1A X-linked" EXACT [DOID:0110870] +synonym: "congenital stationary night blindness caused by mutation in NYX" EXACT [MONDO:design_pattern] synonym: "congenital stationary night blindness type 1A" EXACT [DOID:0110870, MONDORULE:4] synonym: "congenital stationary night blindness with myopia" EXACT [DOID:0110870] synonym: "Csnb, complete, X-linked" RELATED [OMIM:310500] @@ -205977,6 +207988,7 @@ synonym: "night blindness, congenital stationary, type 1A" RELATED [MONDO:Lexica synonym: "night blindness, congenital stationary, type 1A; CSNB1A" RELATED [OMIM:310500] synonym: "night blindness, congenital stationary, with myopia" RELATED [OMIM:310500] synonym: "nyctalopia" RELATED [OMIM:310500] +synonym: "NYX congenital stationary night blindness" EXACT [MONDO:design_pattern] xref: DOID:0110870 {source="MONDO:equivalentTo"} xref: OMIM:310500 {source="DOID:0110870", source="MONDO:equivalentTo"} xref: Orphanet:215 {source="MONDO:subClassOf", source="OMIM:310500"} @@ -206043,6 +208055,8 @@ id: MONDO:0010693 name: nystagmus 1, congenital, X-linked def: "Any congenital nystagmus in which the cause of the disease is a mutation in the FRMD7 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0002969"} +synonym: "congenital nystagmus caused by mutation in FRMD7" EXACT [MONDO:design_pattern] +synonym: "FRMD7 congenital nystagmus" EXACT [MONDO:design_pattern] synonym: "NYS1" RELATED [MONDO:Lexical, OMIM:310700] synonym: "Nystagmus 1, congenital, X- linked" RELATED [GARD:0002969] synonym: "nystagmus 1, congenital, X-linked" EXACT [MONDO:Lexical, OMIM:310700] @@ -206129,7 +208143,7 @@ xref: OMIM:311050 {source="ORDO:98890/e", source="Orphanet:98890", source="MONDO xref: Orphanet:98890 {source="OMIM:311050", source="MONDO:equivalentTo"} xref: SCTID:721200000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1839576 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:311050", source="Orphanet:98890", source="MONDO:equivalentTo"} -is_a: MONDO:0003608 {source="DC-OMIM:311050", source="MESH:C537125", source="OMIM:311050", source="linkedlife/inferred"} ! optic atrophy +is_a: MONDO:0003608 {source="DC-OMIM:311050", source="MESH:C537125", source="OMIM:311050", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic atrophy is_a: MONDO:0018609 {source="Orphanet:98890"} ! syndromic hereditary optic neuropathy is_a: MONDO:0020119 {source="Orphanet:98890"} ! X-linked syndromic intellectual disability is_a: MONDO:0020127 {source="OWLReasoner:2017"} ! genetic peripheral neuropathy @@ -206164,7 +208178,7 @@ xref: ICD10:G60.0 {source="DOID:0110210", source="ORDO:99014/attributed", source xref: OMIM:311070 {source="ORDO:99014/e", source="DOID:0110210", source="GARD:0000114", source="Orphanet:99014", source="MONDO:equivalentTo"} xref: Orphanet:99014 {source="DOID:0110210", source="GARD:0000114", source="MONDO:equivalentTo", source="OMIM:311070"} xref: UMLS:C1839566 {source="NCBI:mim2gene_medline", source="GARD:0000114", source="MEDGEN:kboom-pr98-c99", source="Orphanet:99014", source="MONDO:equivalentTo", source="OMIM:311070"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:311070", source="Orphanet:99014/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110210/inferred", source="MONDO:Redundant", source="OMIM:311070", source="Orphanet:99014/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018609 {source="Orphanet:99014"} ! syndromic hereditary optic neuropathy is_a: MONDO:0018994 {source="DOID:0110210", source="MONDOLEX:0010699", source="Orphanet:99014"} ! Charcot-Marie-tooth disease type X is_a: MONDO:0019236 {source="Orphanet:99014"} ! inborn disorder of purine metabolism @@ -206267,7 +208281,7 @@ xref: SCTID:124249000 {source="DOID:9271"} xref: SCTID:80908008 {source="DOID:9271", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.08"} xref: UMLS:C0268542 {source="Orphanet:664", source="ORDO:664/e", source="DOID:9271", source="OMIM:311250", source="NCBI:mim2gene_medline", source="NCIT:C84957", source="MONDO:equivalentTo"} xref: UMLS:C1839530 {source="OMIM:311250"} -is_a: MONDO:0004739 {source="MESH:D020163", source="MONDO:Redundant", source="NCIT:C84957", source="OMIM:311250/inferred", source="linkedlifedata"} ! urea cycle disorder +is_a: MONDO:0004739 {source="DOID:9271", source="MESH:D020163", source="MONDO:Redundant", source="NCIT:C84957", source="OMIM:311250/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! urea cycle disorder is_a: MONDO:0015920 {source="Orphanet:664"} ! syndromic neurometabolic disease with X-linked intellectual disability is_a: MONDO:0019217 {source="Orphanet:664"} ! inborn disorder of urea cycle metabolism and ammonia detoxification relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8512 {source="mim2gene_medgen"} ! OTC @@ -206322,6 +208336,7 @@ id: MONDO:0010706 name: premature ovarian failure 1 def: "Any primary ovarian failure in which the cause of the disease is a mutation in the FMR1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "familial premature ovarian failure" RELATED [GARD:0004480] +synonym: "FMR1 primary ovarian failure" EXACT [MONDO:design_pattern] synonym: "FMR1-related premature ovarian failure" RELATED [GARD:0004480] synonym: "FMR1-related primary ovarian insufficiency" RELATED [GARD:0004480] synonym: "fragile X-associated primary ovarian insufficiency" RELATED [GARD:0004480] @@ -206333,6 +208348,7 @@ synonym: "premature ovarian failure 1" EXACT [MONDO:Lexical, OMIM:311360] synonym: "premature ovarian failure 1; Pof1" RELATED [OMIM:311360] synonym: "premature ovarian failure type 1" EXACT [MONDORULE:1, OMIM:311360] synonym: "premature ovarian failure, X-linked" RELATED [OMIM:311360] +synonym: "primary ovarian failure caused by mutation in FMR1" EXACT [MONDO:design_pattern] xref: GARD:0004480 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD9:256.39 {source="i2s", source="MONDO:relatedTo"} xref: OMIM:311360 {source="MONDO:equivalentTo"} @@ -206551,7 +208567,7 @@ xref: UMLS:C0205711 {source="NCBI:mim2gene_medline", source="DOID:3210", source= is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disease is_a: MONDO:0005559 {source="MESH:D020371/inferred", source="MONDO:Redundant", source="NCIT:C75487", source="Orphanet:702/inferred"} ! neurodegenerative disease is_a: MONDO:0018609 {source="Orphanet:702"} ! syndromic hereditary optic neuropathy -is_a: MONDO:0019046 {source="DOID:3210", source="OMIM:312080", source="Orphanet:702", source="linkedlifedata"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:3210", source="DOID:3210/inferred", source="OMIM:312080", source="Orphanet:702", source="linkedlifedata", source="linkedlifedata/inferred"} ! leukodystrophy is_a: MONDO:0020119 {source="Orphanet:702"} ! X-linked syndromic intellectual disability is_a: MONDO:0020261 {source="Orphanet:702"} ! neurological disease with abnormal eye movements relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9086 {source="mim2gene_medgen"} ! PLP1 @@ -206718,7 +208734,7 @@ xref: Orphanet:1852 {source="OMIM:312550", source="MONDO:equivalentTo"} xref: SCTID:715240000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1418874 {source="OMIM:312550", source="NCBI:mim2gene_medline"} xref: UMLS:C4275241 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0019118 {source="Orphanet:1852"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:1852"} ! inherited retinal dystrophy property_value: confidence "2.692307692307692" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4680/retinal-dysplasia-x-linked xsd:anyURI {source="GARD:0004680"} @@ -206728,8 +208744,10 @@ name: retinitis pigmentosa 2 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RP2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 2" EXACT [MONDO:Lexical, OMIM:312600] synonym: "retinitis pigmentosa 2; RP2" RELATED [OMIM:312600] +synonym: "retinitis pigmentosa caused by mutation in RP2" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 2" EXACT [DOID:0110415, MONDORULE:1, OMIM:312600] synonym: "RP2" EXACT [DOID:0110415, MONDO:Lexical, OMIM:312600] +synonym: "RP2 retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110415 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110415", source="MONDO:relatedTo"} xref: MESH:C567523 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -206758,6 +208776,7 @@ synonym: "retinoschisis 1, X-linked, juvenile" RELATED [MONDO:Lexical, OMIM:3127 synonym: "retinoschisis 1, X-linked, juvenile; RS1" RELATED [OMIM:312700] synonym: "retinoschisis juvenile X chromosome-linked" RELATED [GARD:0004690] synonym: "retinoschisis X-linked" RELATED [GARD:0004690] +synonym: "retinoschisis, X-linked" EXACT [MONDO:design_pattern] synonym: "RS" RELATED [OMIM:312700] synonym: "RS1" RELATED [MONDO:Lexical, OMIM:312700] synonym: "X-linked juvenile retinoschisis" EXACT [DOID:0060763, Orphanet:792] @@ -206961,7 +208980,7 @@ xref: Orphanet:2815 {source="OMIM:312910", source="MONDO:equivalentTo"} xref: SCTID:715504003 {source="MONDO:kboom-pr-1.00/0.79/8.19", source="MONDO:equivalentTo"} xref: UMLS:C1839267 {source="NCBI:mim2gene_medline"} xref: UMLS:C2931291 {source="Orphanet:2815", source="ORDO:2815/e", source="OMIM:312910", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MESH:C536692/inferred", source="Orphanet:2815/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C536692/inferred", source="Orphanet:2815/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0019589 {source="Orphanet:2815"} ! syndromic genetic deafness property_value: confidence "8.6" xsd:double @@ -206970,7 +208989,9 @@ id: MONDO:0010733 name: hereditary spastic paraplegia 2 def: "Spastic paraplegia type 2 (SPG2) is an X-linked leukodystrophy characterized primarily by spastic gait and autonomic dysfunction. When additional central nervous system (CNS) signs, such as intellectual deficit, ataxia, or extrapyramidal signs, are present, the syndrome is referred to as complicated SPG." [Orphanet:99015] subset: ordo_disease {source="Orphanet:99015"} +synonym: "hereditary spastic paraplegia caused by mutation in PLP1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 2" EXACT [DOID:0110773, MONDORULE:1] +synonym: "PLP1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic gait type 2" EXACT [Orphanet:99015] synonym: "spastic paraparesis type 2" EXACT [Orphanet:99015] synonym: "spastic paraplegia 2" RELATED [GARD:0004923] @@ -206992,7 +209013,7 @@ is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disease is_a: MONDO:0017916 {source="Orphanet:99015"} ! pure or complex X-linked spastic paraplegia is_a: MONDO:0018609 {source="Orphanet:99015"} ! syndromic hereditary optic neuropathy is_a: MONDO:0019046 {source="Orphanet:99015"} ! leukodystrophy -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:312920", source="Orphanet:99015/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110773", source="MONDO:Redundant", source="OMIM:312920", source="Orphanet:99015/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9086 ! PLP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9086 {source="mim2gene_medgen"} ! PLP1 @@ -207152,8 +209173,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10068/taurodo id: MONDO:0010741 name: tooth agenesis, selective, X-linked, 1 def: "Any tooth agenesis in which the cause of the disease is a mutation in the EDA gene." [MONDO:patterns/disease_series_by_gene] +synonym: "EDA tooth agenesis" EXACT [MONDO:design_pattern] synonym: "hypodontia/oligodontia, X-linked, 1" RELATED [OMIM:313500] synonym: "STHAGX1" RELATED [MONDO:Lexical, OMIM:313500] +synonym: "tooth agenesis caused by mutation in EDA" EXACT [MONDO:design_pattern] synonym: "tooth agenesis, selective, X-linked, 1" EXACT [MONDO:Lexical, OMIM:313500] synonym: "TOOTH agenesis, selective, X-linked, 1; STHAGX1" RELATED [OMIM:313500] synonym: "Tooth agenesis, selective, X-linked, type 1" EXACT [MONDORULE:1, OMIM:313500] @@ -207302,8 +209325,8 @@ xref: Orphanet:53351 {source="DOID:0090057", source="OMIM:314250", source="MONDO xref: SCTID:698279003 {source="MONDO:kboom-pr-0.72/0.43/0.07", source="MONDO:equivalentTo"} xref: UMLS:C1839130 {source="Orphanet:53351", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:314250", source="NCIT:C126330", source="MONDO:equivalentTo"} is_a: MONDO:0000477 {source="DOID:0090057"} ! focal dystonia -is_a: MONDO:0003441 {source="MESH:C564048", source="MONDO:Redundant", source="OMIM:314250", source="linkedlifedata"} ! dystonic disorder -is_a: MONDO:0005395 {source="MESH:C564048/inferred", source="MONDO:Redundant", source="NCIT:C126330", source="Orphanet:53351/inferred", source="linkedlifedata"} ! movement disorder +is_a: MONDO:0003441 {source="DOID:0090057/inferred", source="MESH:C564048", source="MONDO:Redundant", source="OMIM:314250", source="linkedlifedata"} ! dystonic disorder +is_a: MONDO:0005395 {source="DOID:0090057/inferred", source="MESH:C564048/inferred", source="MONDO:Redundant", source="NCIT:C126330", source="Orphanet:53351/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! movement disorder is_a: MONDO:0017635 {source="MONDO:Redundant", source="Orphanet:53351"} ! rare parkinsonian syndrome due to neurodegenerative disease is_a: MONDO:0017661 {source="Orphanet:53351"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease is_a: MONDO:0018329 {source="Orphanet:53351"} ! persistent combined dystonia @@ -207498,7 +209521,7 @@ xref: SCTID:722456001 {source="MONDO:kboom-pr-0.74/0.37/0.54", source="MONDO:equ xref: UMLS:C0796200 {source="NCBI:mim2gene_medline", source="OMIM:314580", source="ORDO:3454/e", source="Orphanet:3454"} is_a: MONDO:0010666 ! Miles-Carpenter syndrome is_a: MONDO:0015168 {source="Orphanet:3454"} ! arthrogryposis multiplex congenita -is_a: MONDO:0020120 {source="Orphanet:3454", source="Orphanet:3454/inferred", source="linkedlifedata"} ! skeletal muscle disease +is_a: MONDO:0020120 {source="Orphanet:3454", source="Orphanet:3454/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skeletal muscle disease property_value: confidence "0.5" xsd:double [Term] @@ -207544,6 +209567,7 @@ synonym: "retinitis pigmentosa, Y-linked" EXACT [MONDO:patterns/y_linked] synonym: "retinitis pigmentosa, Y-linked" RELATED [MONDO:Lexical, OMIM:400004] synonym: "retinitis pigmentosa, Y-linked; RPY" RELATED [OMIM:400004] synonym: "RPY" EXACT [DOID:0110418, MONDO:Lexical, OMIM:400004] +synonym: "Y-linked retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110418 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110418", source="MONDO:relatedTo"} xref: MESH:C564035 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -207657,7 +209681,7 @@ xref: UMLS:C2748897 {source="OMIM:400044"} xref: UMLS:C2748898 {source="OMIM:400044"} xref: UMLS:C2748899 {source="OMIM:400044"} xref: UMLS:C2936694 {source="Orphanet:242", source="ORDO:242/e", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0001967 {source="DOID:14448", source="MESH:D006061", source="NCIT:C120198", source="OMIM:400044/inferred", source="linkedlifedata"} ! gonadal dysgenesis +is_a: MONDO:0001967 {source="DOID:14448", source="MESH:D006061", source="NCIT:C120198", source="OMIM:400044/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonadal dysgenesis is_a: MONDO:0016329 {source="Orphanet:242"} ! familial syndrome associated with hypertrophic cardiomyopathy is_a: MONDO:0017966 {source="Orphanet:242"} ! 46,XY disorder of gonadal development is_a: MONDO:0020038 {source="Orphanet:242"} ! gonadal dysgenesis of gynecological interest @@ -207763,7 +209787,7 @@ xref: ONCOTREE:OGBL {source="MONDO:equivalentTo"} xref: SCTID:74751003 {source="DOID:3301"} xref: UMLS:C0206661 {source="OMIM:424500", source="NCBI:mim2gene_medline", source="NCIT:C3754", source="DOID:3301", source="MONDO:equivalentTo"} xref: UMLS:C1518716 {source="ONCOTREE:OGBL"} -is_a: MONDO:0002259 {source="MESH:D018238/inferred", source="MONDO:Entailed", source="OWLReasoner:2017"} ! gonadal disease +is_a: MONDO:0002259 {source="DOID:3301", source="MESH:D018238/inferred", source="MONDO:Entailed", source="NCIT:C3754/inferred", source="OWLReasoner:2017"} ! gonadal disease is_a: MONDO:0002478 {source="NCIT:C3754"} ! mixed germ cell-sex cord-stromal tumor is_a: MONDO:0005565 {source="DOID:3301", source="MONDO:Entailed"} ! blastoma intersection_of: MONDO:0005565 ! blastoma @@ -207824,7 +209848,7 @@ xref: Orphanet:137675 {source="GARD:0009511", source="MONDO:equivalentTo", sourc xref: UMLS:C1708371 {source="NCBI:mim2gene_medline", source="Orphanet:137675", source="ORDO:137675/e", source="GARD:0009511", source="NCIT:C45745", source="MONDO:equivalentTo", source="OMIM:500000"} xref: UMLS:CN239812 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0000591 {source="DOID:0080198"} ! intrinsic cardiomyopathy -is_a: MONDO:0004994 {source="MESH:C535584", source="MONDO:Redundant", source="NCIT:C45745", source="Orphanet:137675/inferred"} ! cardiomyopathy +is_a: MONDO:0004994 {source="DOID:0080198/inferred", source="MESH:C535584", source="MONDO:Redundant", source="NCIT:C45745", source="Orphanet:137675/inferred"} ! cardiomyopathy is_a: MONDO:0015110 {source="Orphanet:137675"} ! genetic cardiac rhythm disease is_a: MONDO:0016335 {source="Orphanet:137675"} ! mitochondrial disease with dilated cardiomyopathy property_value: confidence "2.4105263157894736" xsd:double @@ -208060,7 +210084,7 @@ xref: Orphanet:225 {source="OMIM:520000", source="MONDO:equivalentTo"} xref: SCTID:237619009 {source="MONDO:kboom-pr-1.00/0.79/8.49", source="MONDO:equivalentTo"} xref: UMLS:C0342289 {source="MEDGEN:kboom-pr96-c98", source="NCBI:mim2gene_medline", source="OMIM:520000", source="MONDO:equivalentTo", source="ORDO:225/e", source="Orphanet:225"} xref: UMLS:C4330695 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"} -is_a: MONDO:0005015 {source="MESH:C536246/inferred", source="MONDO:Redundant", source="NCIT:C131859", source="Orphanet:225/inferred", source="linkedlifedata"} ! diabetes mellitus (disease) +is_a: MONDO:0005015 {source="MESH:C536246/inferred", source="MONDO:Redundant", source="NCIT:C131859", source="Orphanet:225/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! diabetes mellitus (disease) is_a: MONDO:0015888 {source="Orphanet:225"} ! other rare diabetes mellitus is_a: MONDO:0015967 {source="MONDO:Entailed", source="Orphanet:225"} ! rare genetic diabetes mellitus is_a: MONDO:0016793 {source="Orphanet:225"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA @@ -208100,7 +210124,7 @@ synonym: "Kearns-Sayre syndrome (disorder)" EXACT [DOID:12934, SCTID:25792000] synonym: "Kearns-Sayre syndrome; KSS" RELATED [OMIM:530000] synonym: "KSS" RELATED [MONDO:Lexical, OMIM:530000] synonym: "mitochondrial Cytopathy" RELATED [OMIM:530000] -synonym: "Oculocraniosomatic syndrome" RELATED [OMIM:530000] +synonym: "oculocraniosomatic syndrome" RELATED [OMIM:530000] synonym: "ophthalmoplegia plus syndrome" RELATED [GARD:0006817] synonym: "ophthalmoplegia, pigmentary Degeneration of retina, and cardiomyopathy" RELATED [OMIM:530000] synonym: "ophthalmoplegia, progressive external, with ragged red fibers" RELATED [GARD:0006817] @@ -208161,15 +210185,15 @@ xref: SCTID:194045006 {source="DOID:705"} xref: SCTID:230510002 {source="DOID:705"} xref: SCTID:58610003 {source="DOID:705", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0917796 {source="DOID:705", source="NCBI:mim2gene_medline", source="OMIM:535000", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:104"} -is_a: MONDO:0002135 {source="DOID:705", source="linkedlife/inferred"} ! optic nerve disease -is_a: MONDO:0004069 {source="MESH:D029242"} ! inborn mitochondrial metabolism disorder +is_a: MONDO:0002135 {source="DOID:705", source="MESH:D029242/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic nerve disease +is_a: MONDO:0004069 {source="MESH:D029242", source="Orphanet:104/inferred"} ! inborn mitochondrial metabolism disorder is_a: MONDO:0016327 {source="Orphanet:104"} ! mitochondrial disease with hypertrophic cardiomyopathy is_a: MONDO:0016335 {source="Orphanet:104"} ! mitochondrial disease with dilated cardiomyopathy is_a: MONDO:0016793 {source="Orphanet:104"} ! mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA is_a: MONDO:0020127 {source="OWLReasoner:2017"} ! genetic peripheral neuropathy is_a: MONDO:0020249 {source="Orphanet:104"} ! hereditary optic neuropathy is_a: MONDO:0020265 {source="Orphanet:104"} ! mitochondrial disease with eye involvement -is_a: MONDO:0043878 {source="MESH:D029242", source="NCIT:C84808"} ! hereditary optic atrophy +is_a: MONDO:0043878 {source="MESH:D029242", source="NCIT:C84808", source="linkedlifedata"} ! hereditary optic atrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7414 {source="mim2gene_medgen"} ! MT-ATP6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7422 {source="mim2gene_medgen"} ! MT-CO3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7427 {source="mim2gene_medgen"} ! MT-CYB @@ -208583,8 +210607,10 @@ id: MONDO:0010806 name: retinitis pigmentosa 13 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF8 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010388"} +synonym: "PRPF8 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 13" EXACT [MONDO:Lexical, OMIM:600059] synonym: "retinitis pigmentosa 13; RP13" RELATED [OMIM:600059] +synonym: "retinitis pigmentosa caused by mutation in PRPF8" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 13" EXACT [DOID:0110403, MONDORULE:2, OMIM:600059] synonym: "RP 13" RELATED [GARD:0010388] synonym: "RP13" EXACT [DOID:0110403, MONDO:Lexical, OMIM:600059] @@ -208605,11 +210631,13 @@ id: MONDO:0010807 name: autosomal recessive nonsyndromic deafness 2 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 2" EXACT [DOID:0110477] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO7A" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 2" EXACT [DOID:0110477, MONDORULE:1] synonym: "deafness, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:600060] synonym: "deafness, autosomal recessive 2; DFNB2" RELATED [OMIM:600060] synonym: "deafness, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:600060] synonym: "DFNB2" EXACT [DOID:0110477, MONDO:Lexical, OMIM:600060] +synonym: "MYO7A autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "neurosensory nonsyndromic recessive deafness 2" RELATED [OMIM:600060] xref: DOID:0110477 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110477"} @@ -208673,6 +210701,7 @@ id: MONDO:0010810 name: vitamin D hydroxylation-deficient rickets, type 1B def: "An autosomal recessive form of rickets caused by inactivating mutation(s) in the CYP2R1 gene, encoding vitamin D 25-hydroxylase, the hepatic enzyme that converts vitamin D to 25-hydroxyvitamin D, the precursor of 1,25-dihydroxyvitamin D (calcitriol). The condition is characterized by reduced serum concentrations of 25-hydroxyvitamin D, hypophosphatemia, hypocalcemia with secondary hyperparathyroidism and elevated serum alkaline phosphatase, and by failure to thrive, seizures, muscle weakness, and rickets." [NCIT:C131074] synonym: "25-Hydroxyvitamin D3 deficiency, selective" RELATED [OMIM:600081] +synonym: "CYP2R1 vitamin D-dependent rickets, type 1" EXACT [MONDO:design_pattern] synonym: "Pseudovitamin D3 deficiency rickets due to 25-Hydroxylase deficiency" RELATED [OMIM:600081] synonym: "VDDR1B" RELATED [MONDO:Lexical, OMIM:600081] synonym: "Vitam D hydroxylation-deficient rickets type 1b" EXACT [NCIT:C131074] @@ -208680,6 +210709,7 @@ synonym: "Vitamin D 25-Hydroxylase deficiency" EXACT [NCIT:C131074] synonym: "Vitamin D hydroxylation-deficient rickets type 1b" EXACT [NCIT:C131074] synonym: "vitamin D hydroxylation-deficient rickets, type 1B" EXACT [MONDO:Lexical, OMIM:600081] synonym: "VITAMIN D hydroxylation-deficient rickets, type 1B; VDDR1B" RELATED [OMIM:600081] +synonym: "vitamin D-dependent rickets, type 1 caused by mutation in CYP2R1" EXACT [MONDO:design_pattern] synonym: "Vitamin D-dependent rickets, type 1B" RELATED [OMIM:600081] xref: MESH:C564005 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C131074 {source="MONDO:kboom-pr-0.74/0.37/0.49", source="MONDO:equivalentTo"} @@ -208724,7 +210754,7 @@ xref: OMIM:600082 {source="EFO:0000284", source="MONDO:equivalentTo"} xref: SCTID:266569009 {source="MONDO:kboom-pr-0.94/0.74/1.57", source="EFO:0000284", source="MONDO:equivalentTo"} xref: UMLS:C0005001 {source="NCIT:C2897"} xref: UMLS:C1704272 {source="NCBI:mim2gene_medline", source="OMIM:600082", source="MONDO:equivalentTo"} -is_a: MONDO:0003105 {source="MESH:D011470", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! prostate disease +is_a: MONDO:0003105 {source="DOID:11132", source="MESH:D011470", source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! prostate disease is_a: MONDO:0005043 {source="EFO:0000284", source="NCIT:C2897"} ! hyperplasia intersection_of: MONDO:0005043 ! hyperplasia intersection_of: disease_has_location UBERON:0002367 ! prostate gland @@ -208812,11 +210842,13 @@ id: MONDO:0010817 name: autosomal dominant nonsyndromic deafness 2A def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KCNQ4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 2A" EXACT [DOID:0110558] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in KCNQ4" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 2A" EXACT [DOID:0110558, MONDORULE:4] synonym: "deafness, autosomal dominant 2A" RELATED [MONDO:Lexical, OMIM:600101] synonym: "deafness, autosomal dominant 2A; DFNA2A" RELATED [OMIM:600101] synonym: "deafness, autosomal dominant type 2A" EXACT [MONDORULE:4, OMIM:600101] synonym: "DFNA2A" EXACT [DOID:0110558, MONDO:Lexical, OMIM:600101] +synonym: "KCNQ4 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110558 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110558"} xref: MESH:C567441 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -208832,8 +210864,10 @@ id: MONDO:0010818 name: retinitis pigmentosa 12 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CRB1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010376"} +synonym: "CRB1 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 12" EXACT [MONDO:Lexical, OMIM:600105] synonym: "retinitis pigmentosa 12; RP12" RELATED [OMIM:600105] +synonym: "retinitis pigmentosa caused by mutation in CRB1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 12" EXACT [DOID:0110358, MONDORULE:2, OMIM:600105] synonym: "retinitis pigmentosa with or without Paraarteriolar preservation of retinal pigment epithelium" RELATED [OMIM:600105] synonym: "RP 12" RELATED [GARD:0010376] @@ -208886,13 +210920,15 @@ synonym: "Parkinson disease, juvenile, autosomal recessive" RELATED [OMIM:600116 synonym: "Parkinsonism, early onset, with diurnal fluctuation" RELATED [GARD:0009642] synonym: "Parkinsonism, early-onset, with diurnal fluctuation" RELATED [OMIM:600116] synonym: "PDJ" RELATED [GARD:0009642] +synonym: "PRKN young-onset Parkinson disease" EXACT [MONDO:design_pattern] +synonym: "young-onset Parkinson disease caused by mutation in PRKN" EXACT [MONDO:design_pattern] xref: DOID:0060368 {source="MONDO:equivalentTo"} xref: GARD:0009642 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: MESH:D020734 {source="MONDO:ontobio", source="MONDO:subClassOf"} xref: OMIM:600116 {source="DOID:0060368", source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="OMIM:600116", source="MONDO:subClassOf"} xref: UMLS:C1868675 {source="NCBI:mim2gene_medline", source="OMIM:600116", source="MONDO:equivalentTo"} -is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:600116"} ! Parkinson disease +is_a: MONDO:0005180 {source="DOID:0060368/inferred", source="MONDO:Redundant", source="OMIM:600116"} ! Parkinson disease is_a: MONDO:0017279 {source="ORDO:2828/btnt"} ! young-onset Parkinson disease intersection_of: MONDO:0017279 ! young-onset Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8607 ! PRKN @@ -208930,9 +210966,11 @@ name: Warburg micro syndrome 1 def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "micro syndrome" RELATED [OMIM:600118] synonym: "micro syndrome 1" EXACT [DOID:0110716] +synonym: "RAB3GAP1 Warburg micro syndrome" EXACT [MONDO:design_pattern] synonym: "WARBM1" EXACT [DOID:0110716, MONDO:Lexical, OMIM:600118] synonym: "Warburg micro syndrome 1" EXACT [MONDO:Lexical, OMIM:600118] synonym: "WARBURG micro syndrome 1; WARBM1" RELATED [OMIM:600118] +synonym: "Warburg micro syndrome caused by mutation in RAB3GAP1" EXACT [MONDO:design_pattern] synonym: "Warburg micro syndrome type 1" EXACT [DOID:0110716, MONDORULE:1, OMIM:600118] xref: DOID:0110716 {source="MONDO:equivalentTo"} xref: ICD10:Q87.0 {source="DOID:0110716"} @@ -208953,12 +210991,14 @@ subset: gard_rare {source="GARD:0009682"} subset: ordo_etiological_subtype {source="Orphanet:309803"} synonym: "Agps deficiency" EXACT [DOID:0110853] synonym: "Agps deficiency" RELATED [OMIM:600121] +synonym: "AGPS rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern] synonym: "Alkyglycerone-phosphate synthase deficiency" RELATED [GARD:0009682] synonym: "alkyldihydroxyacetonephosphate synthase deficiency" EXACT [DOID:0110853] synonym: "alkyldihydroxyacetonephosphate synthase deficiency" RELATED [OMIM:600121] synonym: "alkylglycerone-phosphate synthase deficiency" EXACT [DOID:0110853, OMIM:600121] synonym: "RCDP3" RELATED [MONDO:Lexical, OMIM:600121] synonym: "Rcdp3" EXACT [DOID:0110853] +synonym: "rhizomelic chondrodysplasia punctata caused by mutation in AGPS" EXACT [MONDO:design_pattern] synonym: "rhizomelic chondrodysplasia punctata, type 3" RELATED [GARD:0009682, MONDO:Lexical, OMIM:600121] synonym: "rhizomelic chondrodysplasia punctata, type 3; RCDP3" RELATED [OMIM:600121] xref: DOID:0110853 {source="MONDO:equivalentTo"} @@ -209067,9 +211107,11 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:0010385"} synonym: "retinitis pigmentosa 14" EXACT [MONDO:Lexical, OMIM:600132] synonym: "retinitis pigmentosa 14; RP14" RELATED [OMIM:600132] +synonym: "retinitis pigmentosa caused by mutation in TULP1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 14" EXACT [DOID:0110381, MONDORULE:2, OMIM:600132] synonym: "RP 14" RELATED [GARD:0010385] synonym: "RP14" EXACT [DOID:0110381, MONDO:Lexical, OMIM:600132] +synonym: "TULP1 retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110381 {source="MONDO:equivalentTo"} xref: GARD:0010385 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110381"} @@ -209086,8 +211128,10 @@ id: MONDO:0010828 name: retinitis pigmentosa 11 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF31 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010383"} +synonym: "PRPF31 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 11" EXACT [MONDO:Lexical, OMIM:600138] synonym: "retinitis pigmentosa 11; RP11" RELATED [OMIM:600138] +synonym: "retinitis pigmentosa caused by mutation in PRPF31" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 11" EXACT [DOID:0110408, MONDORULE:2, OMIM:600138] synonym: "RP 11" RELATED [GARD:0010383] synonym: "RP11" EXACT [DOID:0110408, MONDO:Lexical, OMIM:600138] @@ -209137,6 +211181,8 @@ synonym: "ceroid lipofuscinosis, neuronal, type 8" EXACT [MONDORULE:1, OMIM:6001 synonym: "CLN8" EXACT [DOID:0110723] synonym: "CLN8" RELATED [MONDO:Lexical, OMIM:600143] synonym: "CLN8 disease" RELATED [Orphanet:228354] +synonym: "CLN8 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern] +synonym: "neuronal ceroid lipofuscinosis caused by mutation in CLN8" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 8" EXACT [DOID:0110723, MONDORULE:1] xref: DOID:0110723 {source="MONDO:equivalentTo"} xref: ICD10:E75.4 {source="ORDO:228354/attributed", source="ORDO:228354/ntbt", source="Orphanet:228354", source="DOID:0110723", source="MONDO:subClassOf"} @@ -209147,7 +211193,7 @@ xref: Orphanet:79264 {source="OMIM:600143", source="MONDO:subClassOf"} xref: SCTID:703526007 {source="MONDO:kboom-pr-0.92/0.83/0.21", source="MONDO:equivalentTo"} xref: UMLS:C1838570 {source="OMIM:600143", source="NCBI:mim2gene_medline", source="Orphanet:228354"} is_a: MONDO:0015674 {source="ORDO:168491/btnt", source="Orphanet:228354"} ! late infantile neuronal ceroid lipofuscinosis -is_a: MONDO:0016295 {source="DOID", source="MONDO:Redundant", source="OMIM:600143", source="Orphanet:228354/inferred", source="linkedlifedata"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID", source="DOID:0110723", source="MONDO:Redundant", source="OMIM:600143", source="Orphanet:228354/inferred", source="linkedlifedata"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0019262 {source="ORDO:79264/btnt", source="Orphanet:228354"} ! juvenile neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2079 ! CLN8 @@ -209218,6 +211264,8 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/822/bardet-bi id: MONDO:0010833 name: Hirschsprung disease, susceptibility to, 2 def: "Any Hirschsprung disease in which the cause of the disease is a mutation in the EDNRB gene." [MONDO:patterns/disease_series_by_gene] +synonym: "EDNRB Hirschsprung disease" EXACT [MONDO:design_pattern] +synonym: "Hirschsprung disease caused by mutation in EDNRB" EXACT [MONDO:design_pattern] synonym: "Hirschsprung disease type 2" RELATED [GARD:0002698] synonym: "Hirschsprung disease, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:600155] synonym: "Hirschsprung disease, susceptibility to, 2; HSCR2" RELATED [OMIM:600155] @@ -209288,6 +211336,7 @@ id: MONDO:0010837 name: primary hyperparathyroidism (disease) def: "Hyperfunction of the parathyroid glands resulting in the overproduction of parathyroid hormone. It is caused by parathyroid adenoma, parathyroid hyperplasia, parathyroid carcinoma, and multiple endocrine neoplasia. It is associated with hypercalcemia and hypophosphatemia. Signs and symptoms include weakness, fatigue, nausea, vomiting, constipation, depression, bone pain, osteoporosis, cystic bone lesions, and kidney stones." [NCIT:P378] comment: Editor note: check relationship to parent and familiar form +synonym: "familial benign hypercalcemia" EXACT [DOID:11202] synonym: "familial benign hypercalcemia (disorder)" EXACT [DOID:11202, SCTID:190868007] synonym: "familial primary hyperparathyroidism" EXACT [DOID:11202] synonym: "primary hyperparathyroidism" EXACT [MONDO:ambiguous, NCIT:C48280] @@ -209307,7 +211356,7 @@ xref: SCTID:36348003 {source="MONDO:kboom-pr-0.88/0.75/0.13", source="DOID:11202 xref: SCTID:54920000 {source="DOID:11202"} xref: UMLS:C0221002 {source="NCIT:C48280", source="DOID:11202"} xref: UMLS:C0271846 {source="DOID:11202"} -is_a: MONDO:0001741 {source="EFO:0008519", source="MONDO:Redundant", source="NCIT:C48280", source="linkedlifedata"} ! hyperparathyroidism +is_a: MONDO:0001741 {source="DOID:11202", source="EFO:0008519", source="MESH:D049950", source="MONDO:Redundant", source="NCIT:C48280", source="linkedlifedata"} ! hyperparathyroidism [Term] id: MONDO:0010838 @@ -209380,7 +211429,7 @@ xref: OMIM:600193 {source="DOID:0110947", source="MONDO:equivalentTo"} xref: Orphanet:3440 {source="OMIM:600193", source="MONDO:subClassOf"} xref: Orphanet:895 {source="OMIM:600193", source="MONDO:subClassOf"} xref: UMLS:C1838447 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:600193", source="MONDO:equivalentTo"} -is_a: MONDO:0018094 {source="MONDO:Redundant", source="OMIM:600193"} ! Waardenburg syndrome +is_a: MONDO:0018094 {source="DOID:0110947", source="MONDO:Redundant", source="OMIM:600193"} ! Waardenburg syndrome is_a: MONDO:0019517 {source="MONDO:cjm", source="MONDOLEX:0010841"} ! Waardenburg syndrome type 2 property_value: confidence "0.058201058201058364" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5522/waardenburg-syndrome-type-2b xsd:anyURI {source="GARD:0005522"} @@ -209543,7 +211592,7 @@ synonym: "facial clefting, oblique, 1" RELATED [MONDO:Lexical, OMIM:600251] synonym: "facial clefting, oblique, 1; OBLFC1" RELATED [OMIM:600251] synonym: "Facial clefting, oblique, type 1" EXACT [MONDORULE:1, OMIM:600251] synonym: "OBLFC1" RELATED [MONDO:Lexical, OMIM:600251] -synonym: "Oculomaxillofacial dysplasia with oblique Facial clefts" RELATED [OMIM:600251] +synonym: "oculomaxillofacial dysplasia with oblique Facial clefts" RELATED [OMIM:600251] xref: ICD10:Q18.8 {source="Orphanet:141258", source="ORDO:141258/attributed", source="ORDO:141258/ntbt"} xref: OMIM:600251 {source="ORDO:141258/e", source="Orphanet:141258", source="MONDO:equivalentTo"} xref: Orphanet:141258 {source="OMIM:600251", source="MONDO:equivalentTo"} @@ -209724,8 +211773,10 @@ name: atrioventricular septal defect 3 def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GJA1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "atrioventricular septal defect 3" EXACT [MONDO:Lexical, OMIM:600309] synonym: "ATRIOVENTRICULAR septal defect 3; AVSD3" RELATED [OMIM:600309] +synonym: "atrioventricular septal defect caused by mutation in GJA1" EXACT [MONDO:design_pattern] synonym: "Atrioventricular septal defect type 3" EXACT [MONDORULE:1, OMIM:600309] synonym: "AVSD3" RELATED [MONDO:Lexical, OMIM:600309] +synonym: "GJA1 atrioventricular septal defect" EXACT [MONDO:design_pattern] xref: OMIM:600309 {source="MONDO:equivalentTo"} xref: Orphanet:98722 {source="MONDO:subClassOf", source="OMIM:600309"} xref: UMLS:C0344783 {source="NCBI:mim2gene_medline"} @@ -209742,11 +211793,13 @@ id: MONDO:0010860 name: autosomal recessive nonsyndromic deafness 3 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO15A gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 3, neurosensory nonsyndromic recessive deafness 3" EXACT [DOID:0110488] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO15A" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 3" EXACT [DOID:0110488, MONDORULE:1] synonym: "deafness, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:600316] synonym: "deafness, autosomal recessive 3; DFNB3" RELATED [OMIM:600316] synonym: "deafness, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:600316] synonym: "DFNB3" EXACT [DOID:0110488, MONDO:Lexical, OMIM:600316] +synonym: "MYO15A autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "neurosensory nonsyndromic recessive deafness 3" RELATED [OMIM:600316] synonym: "NRSD3" EXACT [DOID:0110488] xref: DOID:0110488 {source="MONDO:equivalentTo"} @@ -209801,6 +211854,8 @@ synonym: "diabetes mellitus, insulin-dependent, type 5" EXACT [MONDORULE:1, OMIM synonym: "IDDM5" EXACT [DOID:0110744] synonym: "IDDM5" RELATED [MONDO:Lexical, OMIM:600320] synonym: "insulin-dependent diabetes mellitus 5" EXACT [DOID:0110744, OMIM:600320] +synonym: "SUMO4 type 1 diabetes mellitus" EXACT [MONDO:design_pattern] +synonym: "type 1 diabetes mellitus caused by mutation in SUMO4" EXACT [MONDO:design_pattern] xref: DOID:0110744 {source="MONDO:equivalentTo"} xref: ICD10:E10 {source="DOID:0110744"} xref: MESH:C563958 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -209940,7 +211995,7 @@ xref: UMLS:C1450052 {source="Orphanet:609", source="MONDO:equivalentTo"} xref: UMLS:C1838244 {source="DOID:0111078", source="NCBI:mim2gene_medline", source="Orphanet:609", source="OMIM:600334", source="MEDGEN:kboom-pr97-c98", source="ORDO:609/e", source="MONDO:equivalentTo"} is_a: MONDO:0016108 {source="Orphanet:609"} ! autosomal dominant distal myopathy is_a: MONDO:0016191 {source="Orphanet:609"} ! qualitative or quantitative defects of titin -is_a: MONDO:0018949 {source="DOID:0111078", source="MONDO:Redundant", source="Orphanet:609/inferred", source="linkedlifedata"} ! distal myopathy +is_a: MONDO:0018949 {source="DOID:0111078", source="MONDO:Redundant", source="Orphanet:609/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! distal myopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12403 {source="mim2gene_medgen"} ! TTN property_value: confidence "22.33333333333334" xsd:double @@ -210060,7 +212115,9 @@ synonym: "autosomal dominant spastic paraplegia type 6" EXACT [DOID:0110811] synonym: "familial spastic paraplegia autosomal dominant 3" RELATED [GARD:0004928] synonym: "familial spastic paraplegia, autosomal dominant, 3" RELATED [OMIM:600363] synonym: "FSP3" EXACT [DOID:0110811] +synonym: "hereditary spastic paraplegia caused by mutation in NIPA1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 6" EXACT [DOID:0110811, MONDORULE:1] +synonym: "NIPA1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 6" RELATED [GARD:0004928] synonym: "spastic paraplegia 6, autosomal dominant" RELATED [MONDO:Lexical, OMIM:600363] synonym: "spastic paraplegia 6, autosomal dominant; SPG6" RELATED [OMIM:600363] @@ -210074,7 +212131,7 @@ xref: Orphanet:100988 {source="OMIM:600363", source="DOID:0110811", source="MOND xref: UMLS:C1838192 {source="Orphanet:100988", source="OMIM:600363", source="NCBI:mim2gene_medline", source="ORDO:100988/e", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C4518537 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0017914 {source="Orphanet:100988"} ! pure or complex autosomal dominant spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:600363", source="Orphanet:100988/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110811", source="MESH:C536866", source="MONDO:Redundant", source="OMIM:600363", source="Orphanet:100988/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17043 ! NIPA1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17043 {source="mim2gene_medgen"} ! NIPA1 @@ -210113,6 +212170,8 @@ id: MONDO:0010880 name: telangiectasia, hereditary hemorrhagic, type 2 def: "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the ACVRL1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0009901"} +synonym: "ACVRL1 hereditary hemorrhagic telangiectasia" EXACT [MONDO:design_pattern] +synonym: "hereditary hemorrhagic telangiectasia caused by mutation in ACVRL1" EXACT [MONDO:design_pattern] synonym: "hereditary hemorrhagic telangiectasia type 2" RELATED [GARD:0009901] synonym: "HHT2" RELATED [MONDO:Lexical, OMIM:600376] synonym: "ORW2" RELATED [GARD:0009901] @@ -210213,7 +212272,7 @@ xref: OMIM:600416 {source="MONDO:equivalentTo"} xref: Orphanet:269 {source="MONDO:subClassOf", source="OMIM:600416"} xref: SCTID:240074006 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"} xref: UMLS:C0410192 {source="NCBI:mim2gene_medline", source="OMIM:600416", source="MONDO:equivalentTo"} -is_a: MONDO:0001347 {source="ORDO:269/btnt"} ! facioscapulohumeral muscular dystrophy +is_a: MONDO:0001347 {source="MESH:C562932", source="ORDO:269/btnt"} ! facioscapulohumeral muscular dystrophy property_value: confidence "1.391975308641975" xsd:double [Term] @@ -210278,7 +212337,7 @@ xref: OMIM:600457 {source="ORDO:3387/e", source="MONDO:equivalentTo", source="Or xref: Orphanet:3387 {source="OMIM:600457", source="MONDO:equivalentTo"} xref: SCTID:717963001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1838123 {source="NCBI:mim2gene_medline", source="OMIM:600457", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="Orphanet:3387"} -is_a: MONDO:0019280 {source="DC-OMIM:600457", source="MESH:C538390", source="Orphanet:3387", source="linkedlifedata"} ! hypertrichosis (disease) +is_a: MONDO:0019280 {source="DC-OMIM:600457", source="MESH:C538390", source="Orphanet:3387", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypertrichosis (disease) property_value: confidence "3.533333333333334" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8438/isolated-anterior-cervical-hypertrichosis xsd:anyURI {source="GARD:0008438"} @@ -210314,7 +212373,7 @@ xref: SCTID:198249000 {source="DOID:288"} xref: SCTID:237115002 {source="DOID:288", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.76/0.43"} xref: SCTID:76376003 {source="DOID:288"} xref: UMLS:C0341858 {source="NCBI:mim2gene_medline", source="OMIM:600458", source="NCIT:C6996", source="DOID:288", source="MONDO:equivalentTo"} -is_a: MONDO:0005133 {source="DOID:288", source="ICD10:N80.0", source="MONDO:Entailed", source="linkedlifedata"} ! endometriosis (disease) +is_a: MONDO:0005133 {source="DOID:288", source="ICD10:N80.0", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! endometriosis (disease) intersection_of: MONDO:0005133 ! endometriosis (disease) intersection_of: disease_has_location UBERON:0001296 ! myometrium @@ -210490,7 +212549,7 @@ xref: Orphanet:26823 {source="OMIM:600510"} xref: SCTID:392133001 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1271398 {source="NCBI:mim2gene_medline", source="OMIM:600510", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0005328 {source="DOID:0060680", source="MESH:C563184/inferred", source="linkedlifedata"} ! eye disease +is_a: MONDO:0005328 {source="DOID:0060680", source="MESH:C563184/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4356/pigment-dispersion-syndrome xsd:anyURI {source="GARD:0004356"} [Term] @@ -210538,7 +212597,7 @@ xref: OMIM:616436 {source="ORDO:101046/btnt", source="Orphanet:101046", source=" xref: OMIM:616461 {source="ORDO:101046/btnt", source="Orphanet:101046", source="MONDO:superClassOf"} xref: Orphanet:101046 {source="DOID:0060748", source="OMIM:600512", source="MONDO:equivalentTo"} xref: UMLS:C1838062 {source="NCBI:mim2gene_medline", source="OMIM:600512", source="Orphanet:101046", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} -is_a: MONDO:0005027 {source="MESH:C537297/inferred", source="MONDO:Redundant", source="NCIT:C141441", source="OMIM:600512/inferred"} ! epilepsy +is_a: MONDO:0005027 {source="DOID:0060748/inferred", source="MESH:C537297/inferred", source="MONDO:Redundant", source="NCIT:C141441", source="OMIM:600512/inferred"} ! epilepsy is_a: MONDO:0005115 {source="DC-OMIM:600512", source="DOID:0060748", source="OMIM:600512"} ! temporal lobe epilepsy is_a: MONDO:0017704 {source="Orphanet:101046"} ! familial partial epilepsy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6572 {source="mim2gene_medgen"} ! LGI1 @@ -210549,7 +212608,9 @@ property_value: confidence "5.0" xsd:double id: MONDO:0010899 name: autosomal dominant nocturnal frontal lobe epilepsy 1 def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA4" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 1" EXACT [DOID:0060682, MONDORULE:1] +synonym: "CHRNA4 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern] synonym: "ENFL1" EXACT [DOID:0060682, MONDO:Lexical, OMIM:600513] synonym: "epilepsy, nocturnal frontal lobe, 1" RELATED [MONDO:Lexical, OMIM:600513] synonym: "epilepsy, nocturnal frontal lobe, 1; ENFL1" RELATED [OMIM:600513] @@ -210662,12 +212723,14 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10651/cone-ro id: MONDO:0010906 name: orofacial cleft 11 def: "Any orofacial cleft in which the cause of the disease is a mutation in the BMP4 gene." [MONDO:patterns/disease_series_by_gene] -synonym: "cleft 51P with or without cleft palate, nonsyndromic, 11" RELATED [OMIM:600625] +synonym: "BMP4 orofacial cleft" EXACT [MONDO:design_pattern] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 11" RELATED [OMIM:600625] synonym: "cleft Lip, congenital Healed" RELATED [OMIM:600625] -synonym: "congenital Healed cleft 51P" RELATED [OMIM:600625] +synonym: "congenital Healed cleft lip" RELATED [OMIM:600625] synonym: "OFC11" RELATED [MONDO:Lexical, OMIM:600625] synonym: "orofacial cleft 11" EXACT [MONDO:Lexical, OMIM:600625] synonym: "orofacial cleft 11; OFC11" RELATED [OMIM:600625] +synonym: "orofacial cleft caused by mutation in BMP4" EXACT [MONDO:design_pattern] synonym: "orofacial cleft type 11" EXACT [MONDORULE:2, OMIM:600625] xref: OMIM:600625 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:600625", source="MONDO:subClassOf"} @@ -210678,6 +212741,7 @@ is_a: MONDO:0016044 {source="ORDO:199306/btnt"} ! cleft lip/palate intersection_of: MONDO:0000358 ! orofacial cleft intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1071 ! BMP4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1071 {source="mim2gene_medgen"} ! BMP4 +relationship: has_modifier MONDO:0021128 ! has an isolated presentation property_value: confidence "1.7876687750502525" xsd:double [Term] @@ -210698,7 +212762,7 @@ xref: Orphanet:2224 {source="OMIM:600627", source="MONDO:equivalentTo"} xref: SCTID:721838005 {source="MONDO:equivalentTo"} xref: UMLS:C1833562 {source="NCBI:mim2gene_medline", source="OMIM:600627", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C2931837 {source="ORDO:2224/e", source="Orphanet:2224", source="MONDO:equivalentTo"} -is_a: MONDO:0017350 {source="Orphanet:2224"} ! inborn disorder of tryptophan metabolism +is_a: MONDO:0017350 {source="Orphanet:2224", source="linkedlifedata/inferred"} ! inborn disorder of tryptophan metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11708 {source="mim2gene_medgen"} ! TDO2 property_value: confidence "0.46875" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2871/hypertryptophanemia xsd:anyURI {source="GARD:0002871"} @@ -210724,8 +212788,10 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0010909 name: UV-sensitive syndrome 1 def: "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ERCC6 UV-sensitive syndrome" EXACT [MONDO:design_pattern] synonym: "UV-sensitive syndrome 1" EXACT [MONDO:Lexical, OMIM:600630] synonym: "UV-sensitive syndrome 1; UVSS1" RELATED [OMIM:600630] +synonym: "UV-sensitive syndrome caused by mutation in ERCC6" EXACT [MONDO:design_pattern] synonym: "UV-sensitive syndrome type 1" EXACT [MONDORULE:1, OMIM:600630] synonym: "UVSS1" RELATED [MONDO:Lexical, OMIM:600630] xref: OMIM:600630 {source="MONDO:equivalentTo"} @@ -210804,7 +212870,7 @@ xref: SCTID:34337008 {source="DOID:5394"} xref: SCTID:367098005 {source="DOID:5394"} xref: UMLS:C0033375 {source="NCBI:mim2gene_medline", source="OMIM:600634", source="Orphanet:2965", source="NCIT:C3342", source="ORDO:2965/e", source="DOID:5394", source="MONDO:equivalentTo"} is_a: MONDO:0003430 {source="NCIT:C3342"} ! prolactin producing pituitary tumor -is_a: MONDO:0006373 {source="MONDO:Redundant", source="NCIT:C3342", source="Orphanet:2965/inferred", source="linkedlifedata"} ! pituitary gland adenoma +is_a: MONDO:0006373 {source="DOID:5394/inferred", source="MONDO:Redundant", source="NCIT:C3342", source="Orphanet:2965/inferred", source="linkedlifedata"} ! pituitary gland adenoma is_a: MONDO:0017824 {source="ORDO:314777/btnt"} ! familial isolated pituitary adenoma is_a: MONDO:0018386 {source="MONDO:Redundant", source="Orphanet:2965"} ! rare male infertility due to hypothalamic-pituitary-gonadal axis disorder is_a: MONDO:0018397 {source="MONDO:Redundant", source="Orphanet:2965"} ! rare female infertility due to hypothalamic-pituitary-gonadal axis disorder @@ -210817,9 +212883,11 @@ id: MONDO:0010912 name: fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the TUBB3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CFEOM3A" RELATED [MONDO:Lexical, OMIM:600638] +synonym: "congenital fibrosis of extraocular muscles caused by mutation in TUBB3" EXACT [MONDO:design_pattern] synonym: "Feom3 locus" RELATED [OMIM:600638] synonym: "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement" EXACT [MONDO:Lexical, OMIM:600638] synonym: "fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement; CFEOM3A" RELATED [OMIM:600638] +synonym: "TUBB3 congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern] xref: MESH:C567572 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:600638 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="OMIM:600638", source="MONDO:subClassOf"} @@ -210894,12 +212962,14 @@ id: MONDO:0010915 name: autosomal dominant nonsyndromic deafness 4A def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH14 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 4A" EXACT [DOID:0110573] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYH14" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 4A" EXACT [DOID:0110573, MONDORULE:4] synonym: "deafness, autosomal dominant 4" RELATED [OMIM:600652] synonym: "deafness, autosomal dominant 4A" RELATED [MONDO:Lexical, OMIM:600652] synonym: "deafness, autosomal dominant 4A; DFNA4A" RELATED [OMIM:600652] synonym: "deafness, autosomal dominant type 4A" EXACT [MONDORULE:4, OMIM:600652] synonym: "DFNA4A" EXACT [DOID:0110573, MONDO:Lexical, OMIM:600652] +synonym: "MYH14 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110573 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110573"} xref: MESH:C563460 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -210915,6 +212985,8 @@ id: MONDO:0010916 name: polycystic kidney disease 3 def: "Any autosomal dominant polycystic kidney disease in which the cause of the disease is a mutation in the GANAB gene." [MONDO:patterns/disease_series_by_gene] synonym: "Apkd3" EXACT [DOID:0110860] +synonym: "autosomal dominant polycystic kidney disease caused by mutation in GANAB" EXACT [MONDO:design_pattern] +synonym: "GANAB autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern] synonym: "PKD3" RELATED [MONDO:Lexical, OMIM:600666] synonym: "Pkd3" EXACT [DOID:0110860] synonym: "polycystic kidney disease 3" EXACT [OMIM:600666] @@ -210968,7 +213040,7 @@ xref: UMLS:C0270850 {source="NCBI:mim2gene_medline", source="OMIM:600669"} xref: UMLS:C2748799 {source="OMIM:600669"} xref: UMLS:C2748800 {source="OMIM:600669"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0005579 {source="DC-OMIM:600669"} ! generalised epilepsy +is_a: MONDO:0005579 {source="DC-OMIM:600669", source="MESH:C562694", source="linkedlifedata"} ! generalised epilepsy [Term] id: MONDO:0010919 @@ -211036,7 +213108,7 @@ xref: MESH:C536616 {source="Orphanet:3130", source="MONDO:ontobio", source="ORDO xref: OMIM:600705 {source="Orphanet:3130", source="ORDO:3130/e", source="MONDO:equivalentTo"} xref: Orphanet:3130 {source="MONDO:equivalentTo", source="OMIM:600705"} xref: UMLS:C1833454 {source="NCBI:mim2gene_medline", source="Orphanet:3130", source="ORDO:3130/e", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96", source="OMIM:600705"} -is_a: MONDO:0004907 {source="Orphanet:3130"} ! alopecia +is_a: MONDO:0004907 {source="MESH:C536616", source="Orphanet:3130"} ! alopecia is_a: MONDO:0015245 {source="Orphanet:3130"} ! rare intestinal disease is_a: MONDO:0015939 {source="Orphanet:3130"} ! systemic autoimmune disease is_a: MONDO:0019852 {source="Orphanet:3130"} ! inherited primary ovarian failure @@ -211073,7 +213145,7 @@ xref: Orphanet:79315 {source="OMIM:600721", source="MONDO:equivalentTo"} xref: SCTID:237960000 {source="MONDO:equivalentTo"} xref: UMLS:C1833429 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:CN233040 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0016001 {source="DOID:0050575", source="Orphanet:79315"} ! 2-hydroxyglutaric aciduria +is_a: MONDO:0016001 {source="DOID:0050575", source="Orphanet:79315", source="linkedlifedata"} ! 2-hydroxyglutaric aciduria property_value: confidence "1.7529411764705887" xsd:double [Term] @@ -211098,8 +213170,10 @@ id: MONDO:0010926 name: familial hypocalciuric hypercalcemia 3 def: "Any familial hypocalciuric hypercalcemia in which the cause of the disease is a mutation in the AP2S1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:101050"} +synonym: "AP2S1 familial hypocalciuric hypercalcemia" EXACT [MONDO:design_pattern] synonym: "familial benign hypercalcemia, Oklahoma variant" RELATED [GARD:0002878] synonym: "familial benign hypercalcemia, type 3" RELATED [OMIM:600740] +synonym: "familial hypocalciuric hypercalcemia caused by mutation in AP2S1" EXACT [MONDO:design_pattern] synonym: "familial hypocalciuric hypercalcemia type 3" EXACT [DOID:0060702, MONDORULE:1] synonym: "FBH3" RELATED [GARD:0002878] synonym: "FBHOk" RELATED [GARD:0002878] @@ -211128,7 +213202,7 @@ property_value: confidence "4.999999999999999" xsd:double [Term] id: MONDO:0010927 name: OFC3 -synonym: "cleft 51P with or without cleft palate, nonsyndromic, 3" RELATED [OMIM:600757] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 3" RELATED [OMIM:600757] synonym: "OFC3" EXACT [MONDO:Lexical, OMIM:600757] synonym: "orofacial cleft 3" RELATED [MONDO:Lexical, OMIM:600757] synonym: "orofacial cleft 3; OFC3" RELATED [OMIM:600757] @@ -211137,9 +213211,9 @@ xref: OMIM:600757 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:600757", source="MONDO:subClassOf"} xref: UMLS:C1833369 {source="NCBI:mim2gene_medline", source="OMIM:600757", source="MONDO:equivalentTo"} is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:600757"} ! orofacial cleft -is_a: MONDO:0015420 ! cleft lip and alveolus -is_a: MONDO:0016043 ! isolated cleft lip -is_a: MONDO:0016044 ! cleft lip/palate +is_a: MONDO:0004747 {source="MESH:C563448"} ! cleft lip (disease) +is_a: MONDO:0016064 {source="MESH:C563448"} ! cleft palate +relationship: has_modifier MONDO:0021128 ! has an isolated presentation property_value: confidence "1.7876687750502525" xsd:double [Term] @@ -211162,8 +213236,10 @@ name: craniosynostosis 4 def: "Any craniosynostosis in which the cause of the disease is a mutation in the ERF gene." [MONDO:patterns/disease_series_by_gene] synonym: "craniosynostosis 4" EXACT [MONDO:Lexical, OMIM:600775] synonym: "craniosynostosis 4; CRS4" RELATED [OMIM:600775] +synonym: "craniosynostosis caused by mutation in ERF" EXACT [MONDO:design_pattern] synonym: "craniosynostosis type 4" EXACT [MONDORULE:1, OMIM:600775] synonym: "CRS4" RELATED [MONDO:Lexical, OMIM:600775] +synonym: "ERF craniosynostosis" EXACT [MONDO:design_pattern] xref: OMIM:600775 {source="MONDO:equivalentTo"} xref: Orphanet:2343 {source="OMIM:600775", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: Orphanet:3267 {source="OMIM:600775", source="MONDO:relatedTo", source="MONDO:superClassOf"} @@ -211217,7 +213293,7 @@ xref: OMIM:600785 {source="MONDO:equivalentTo"} xref: Orphanet:93160 {source="OMIM:600785", source="MONDO:subClassOf"} xref: SCTID:237895001 {source="MONDO:equivalentTo"} xref: UMLS:C2748783 {source="NCBI:mim2gene_medline", source="OMIM:600785", source="MONDO:equivalentTo"} -is_a: MONDO:0005520 {source="DC-OMIM:600785", source="MONDO:Redundant", source="linkedlifedata"} ! rickets (disease) +is_a: MONDO:0005520 {source="DC-OMIM:600785", source="MONDO:Redundant", source="NCIT:C131076", source="linkedlifedata", source="linkedlifedata/inferred"} ! rickets (disease) is_a: MONDO:0019642 {source="MONDOLEX:0010931", source="ORDO:93160/btnt", source="linkedlifedata"} ! vitamin D-dependent rickets, type 2 property_value: confidence "1.4999999999999996" xsd:double @@ -211238,7 +213314,7 @@ xref: OMIM:600790 {source="ORDO:75373/e", source="Orphanet:75373", source="MONDO xref: Orphanet:75373 {source="OMIM:600790", source="MONDO:equivalentTo"} xref: SCTID:719266007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1833321 {source="ORDO:75373/e", source="NCBI:mim2gene_medline", source="Orphanet:75373", source="OMIM:600790", source="MONDO:equivalentTo"} -is_a: MONDO:0019118 {source="Orphanet:75373", source="linkedlifedata"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:75373", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy property_value: confidence "3.7222222222222223" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10123/progressive-bifocal-chorioretinal-atrophy xsd:anyURI {source="GARD:0010123"} @@ -211342,7 +213418,7 @@ xref: Orphanet:35078 {source="OMIM:600802", source="MONDO:equivalentTo"} xref: SCTID:718107000 {source="MONDO:equivalentTo"} xref: UMLS:C1833275 {source="NCBI:mim2gene_medline", source="OMIM:600802", source="MONDO:equivalentTo"} xref: UMLS:C4273742 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0015974 {source="DC-OMIM:600802", source="MONDO:0010938/inferred", source="MONDO:Redundant", source="MONDOLEX:0010938/inferred", source="Orphanet:35078/inferred"} ! severe combined immunodeficiency (disease) +is_a: MONDO:0015974 {source="DC-OMIM:600802", source="MESH:C563440", source="MONDO:0010938/inferred", source="MONDO:Redundant", source="MONDOLEX:0010938/inferred", source="Orphanet:35078/inferred", source="linkedlifedata/inferred"} ! severe combined immunodeficiency (disease) is_a: MONDO:0044200 {source="MONDOLEX:0010938", source="Orphanet:35078"} ! T-B+ severe combined immunodeficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6193 {source="mim2gene_medgen"} ! JAK3 property_value: confidence "2.692307692307692" xsd:double @@ -211456,8 +213532,10 @@ id: MONDO:0010945 name: retinitis pigmentosa 17 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CA4 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010387"} +synonym: "CA4 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 17" EXACT [MONDO:Lexical, OMIM:600852] synonym: "retinitis pigmentosa 17; RP17" RELATED [OMIM:600852] +synonym: "retinitis pigmentosa caused by mutation in CA4" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 17" EXACT [DOID:0110404, MONDORULE:2, OMIM:600852] synonym: "RP 17" RELATED [GARD:0010387] synonym: "RP17" EXACT [DOID:0110404, MONDO:Lexical, OMIM:600852] @@ -211482,14 +213560,16 @@ synonym: "cardiomyopathy, familial hypertrophic, 6" RELATED [MONDO:Lexical, OMIM synonym: "cardiomyopathy, familial hypertrophic, 6; CMH6" RELATED [OMIM:600858] synonym: "cardiomyopathy, familial hypertrophic, type 6" EXACT [MONDORULE:1, OMIM:600858] synonym: "CMH6" EXACT [DOID:0110312, MONDO:Lexical, OMIM:600858] +synonym: "hypertrophic cardiomyopathy caused by mutation in PRKAG2" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 6" EXACT [DOID:0110312, MONDORULE:1] +synonym: "PRKAG2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110312 {source="MONDO:equivalentTo"} xref: MESH:C563436 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:600858 {source="DOID:0110312", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:600858"} xref: UMLS:C1833236 {source="NCBI:mim2gene_medline", source="OMIM:600858", source="MONDO:equivalentTo"} is_a: MONDO:0005045 {source="DC-OMIM:600858", source="DOID:0110312", source="MESH:C563436/inferred", source="MONDO:Redundant", source="OMIM:600858"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDOLEX:0010946", source="OMIM", source="OMIM:600858"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="MESH:C563436", source="MONDOLEX:0010946", source="OMIM", source="OMIM:600858"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9386 ! PRKAG2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9386 {source="mim2gene_medgen"} ! PRKAG2 @@ -211534,7 +213614,9 @@ synonym: "cataract 10, multiple types; CTRCT10" RELATED [OMIM:600881] synonym: "cataract, congenital zonular, with sutural opacities" RELATED [OMIM:600881] synonym: "CCZS" NARROW [DOID:0110258] synonym: "congenital zonular cataract with sutural opacities" NARROW [DOID:0110258] +synonym: "CRYBA1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] synonym: "CTRCT10" EXACT [DOID:0110258, MONDO:Lexical, OMIM:600881] +synonym: "early-onset non-syndromic cataract caused by mutation in CRYBA1" EXACT [MONDO:design_pattern] xref: DOID:0110258 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110258"} xref: MESH:C563435 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -211543,7 +213625,7 @@ xref: Orphanet:91492 {source="OMIM:600881", source="MONDO:subClassOf"} xref: Orphanet:98985 {source="OMIM:600881", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: Orphanet:98995 {source="OMIM:600881", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C1833229 {source="OMIM:600881", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C563435", source="MONDO:Redundant", source="OMIM:600881"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110258", source="MESH:C563435", source="MONDO:Redundant", source="OMIM:600881"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2394 ! CRYBA1 @@ -211558,6 +213640,7 @@ subset: gard_rare {source="GARD:0009192"} subset: ordo_disease {source="Orphanet:99936"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2B" EXACT [DOID:0110159] synonym: "Charcot Marie Tooth disease type 2B" RELATED [GARD:0009192] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in RAB7A" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, autosomal dominant, type 2B" RELATED [OMIM:600882] synonym: "Charcot-Marie-Tooth disease, axonal, type 2B" RELATED [GARD:0009192, MONDO:Lexical, OMIM:600882] synonym: "Charcot-Marie-Tooth disease, axonal, type 2B; CMT2B" RELATED [OMIM:600882] @@ -211573,6 +213656,7 @@ synonym: "HMSN IIB" EXACT [DOID:0110159] synonym: "HMSN2B" EXACT [DOID:0110159] synonym: "Hmsn2B" RELATED [OMIM:600882] synonym: "peripheral sensory neuropathy, autosomal dominant (PSN)" RELATED [GARD:0009192] +synonym: "RAB7A Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110159 {source="MONDO:equivalentTo"} xref: GARD:0009192 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="Orphanet:99936", source="DOID:0110159", source="ORDO:99936/attributed", source="ORDO:99936/ntbt"} @@ -211581,7 +213665,7 @@ xref: OMIM:600882 {source="Orphanet:99936", source="DOID:0110159", source="MONDO xref: Orphanet:99936 {source="OMIM:600882", source="DOID:0110159", source="MONDO:equivalentTo"} xref: SCTID:717008005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1833219 {source="Orphanet:99936", source="OMIM:600882", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C537989", source="MONDO:Redundant", source="OMIM:600882", source="Orphanet:99936/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110159/inferred", source="MESH:C537989", source="MONDO:Redundant", source="OMIM:600882", source="Orphanet:99936/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110159", source="Orphanet:99936"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9788 ! RAB7A @@ -211662,6 +213746,8 @@ def: "Fanconi anemia caused by mutations of the FANCE gene. This is a protein co synonym: "face" EXACT [DOID:0111084] synonym: "face" RELATED [OMIM:600901] synonym: "FANCE" EXACT [DOID:0111084, MONDO:Lexical, OMIM:600901] +synonym: "FANCE Fanconi anemia" EXACT [MONDO:design_pattern] +synonym: "Fanconi anemia caused by mutation in FANCE" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type E" EXACT [DOID:0111084, MONDORULE:1] synonym: "FANCONI ANEMIA, complementation group E" RELATED [MONDO:Lexical, OMIM:600901] synonym: "FANCONI ANEMIA, complementation group E; FANCE" RELATED [OMIM:600901] @@ -211828,6 +213914,7 @@ def: "Any autosomal dominant nonsyndromic deafness in which the cause of the dis synonym: "autosomal dominant deafness 14" EXACT [DOID:0110584] synonym: "autosomal dominant deafness 38" EXACT [DOID:0110584] synonym: "autosomal dominant deafness 6" EXACT [DOID:0110584] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in WFS1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 6" EXACT [DOID:0110584, MONDORULE:1] synonym: "deafness, autosomal dominant 14" RELATED [OMIM:600965] synonym: "deafness, autosomal dominant 38" RELATED [OMIM:600965] @@ -211837,6 +213924,7 @@ synonym: "deafness, autosomal dominant type 6" EXACT [MONDORULE:1, OMIM:600965] synonym: "DFNA14" EXACT [DOID:0110584] synonym: "DFNA38" EXACT [DOID:0110584] synonym: "DFNA6" EXACT [DOID:0110584, MONDO:Lexical, OMIM:600965] +synonym: "WFS1 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110584 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110584"} xref: MESH:C563421 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -211880,12 +213968,14 @@ name: autosomal recessive nonsyndromic deafness 6 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMIE gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "autosomal recessive deafness 6" EXACT [DOID:0110512] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TMIE" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 6" EXACT [DOID:0110512, MONDORULE:1] synonym: "deafness, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:600971] synonym: "deafness, autosomal recessive 6; DFNB6" RELATED [OMIM:600971] synonym: "deafness, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:600971] synonym: "DFNB6" EXACT [DOID:0110512, MONDO:Lexical, OMIM:600971] synonym: "neurosensory nonsyndromic recessive deafness 6" RELATED [OMIM:600971] +synonym: "TMIE autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110512 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110512"} xref: MESH:C563418 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -211929,6 +214019,7 @@ id: MONDO:0010967 name: autosomal recessive nonsyndromic deafness 7 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 7" EXACT [DOID:0110520] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TMC1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 7" EXACT [DOID:0110520, MONDORULE:1] synonym: "deafness, autosomal recessive 11" RELATED [OMIM:600974] synonym: "deafness, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:600974] @@ -211936,6 +214027,7 @@ synonym: "deafness, autosomal recessive 7; DFNB7" RELATED [OMIM:600974] synonym: "deafness, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:600974] synonym: "DFNB11" EXACT [DOID:0110520] synonym: "DFNB7" EXACT [DOID:0110520, MONDO:Lexical, OMIM:600974] +synonym: "TMC1 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110520 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110520"} xref: MESH:C563417 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -211979,9 +214071,11 @@ def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in subset: gard_rare {source="GARD:0010655"} synonym: "cone-rod dystrophy 5" EXACT [MONDO:Lexical, OMIM:600977] synonym: "cone-ROD dystrophy 5; CORD5" RELATED [OMIM:600977] +synonym: "cone-rod dystrophy caused by mutation in PITPNM3" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 5" EXACT [MONDORULE:1, OMIM:600977] synonym: "cone-rod dystrophy type 5" EXACT [DOID:0111010, MONDORULE:1] synonym: "CORD5" EXACT [DOID:0111010, MONDO:Lexical, OMIM:600977] +synonym: "PITPNM3 cone-rod dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0111010 {source="MONDO:equivalentTo"} xref: GARD:0010655 {source="MONDO:equivalentTo"} xref: MESH:C563415 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -212049,11 +214143,13 @@ id: MONDO:0010973 name: autosomal dominant nonsyndromic deafness 5 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GSDME gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 5" EXACT [DOID:0110575] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GSDME" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 5" EXACT [DOID:0110575, MONDORULE:1] synonym: "deafness, autosomal dominant 5" RELATED [MONDO:Lexical, OMIM:600994] synonym: "deafness, autosomal dominant 5; DFNA5" RELATED [OMIM:600994] synonym: "deafness, autosomal dominant type 5" EXACT [MONDORULE:1, OMIM:600994] synonym: "DFNA5" EXACT [DOID:0110575, MONDO:Lexical, OMIM:600994] +synonym: "GSDME autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110575 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110575"} xref: MESH:C563410 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -212068,11 +214164,13 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28 id: MONDO:0010974 name: nephrotic syndrome, type 2 def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the NPHS2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "nephrotic syndrome caused by mutation in NPHS2" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, idiopathic, steroid-resistant" RELATED [GARD:0003946] synonym: "nephrotic syndrome, steroid-resistant, autosomal recessive" RELATED [OMIM:600995] synonym: "nephrotic syndrome, type 2" EXACT [MONDO:Lexical, OMIM:600995] synonym: "nephrotic syndrome, type 2; NPHS2" RELATED [OMIM:600995] synonym: "NPHS2" RELATED [MONDO:Lexical, OMIM:600995] +synonym: "NPHS2 nephrotic syndrome" EXACT [MONDO:design_pattern] synonym: "SRN1" RELATED [GARD:0003946] xref: GARD:0003946 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:600995 {source="MONDO:equivalentTo"} @@ -212098,6 +214196,8 @@ synonym: "arrhythmogenic right ventricular dysplasia, familial, type 2" EXACT [M synonym: "ARVC2" EXACT [DOID:0110071] synonym: "ARVD2" EXACT [DOID:0110071, MONDO:Lexical, OMIM:600996] synonym: "familial arrhythmogenic right ventricular dysplasia 2" EXACT [DOID:0110071] +synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in RYR2" EXACT [MONDO:design_pattern] +synonym: "RYR2 familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern] xref: DOID:0110071 {source="MONDO:equivalentTo"} xref: ICD10:I42.8 {source="DOID:0110071"} xref: MESH:C563409 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -212105,7 +214205,7 @@ xref: OMIM:600996 {source="DOID:0110071", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="OMIM:600996", source="MONDO:subClassOf"} xref: UMLS:C1832931 {source="NCBI:mim2gene_medline", source="OMIM:600996", source="MONDO:equivalentTo"} is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia -is_a: MONDO:0016587 {source="MESH:C563409", source="MONDO:Redundant", source="OMIM:600996"} ! arrhythmogenic right ventricular cardiomyopathy +is_a: MONDO:0016587 {source="DOID:0110071", source="MESH:C563409", source="MONDO:Redundant", source="OMIM:600996"} ! arrhythmogenic right ventricular cardiomyopathy intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10484 ! RYR2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10484 {source="mim2gene_medgen"} ! RYR2 @@ -212194,7 +214294,7 @@ xref: Orphanet:65283 {source="DOID:0060173", source="OMIM:601005", source="MONDO xref: Orphanet:768 {source="DOID:0060173", source="OMIM:601005", source="MONDO:subClassOf"} xref: UMLS:C1832916 {source="ORDO:65283/e", source="Orphanet:65283", source="NCBI:mim2gene_medline", source="OMIM:601005", source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="DOID:0060173"} ! autosomal dominant disease -is_a: MONDO:0002442 {source="MESH:C536962", source="MONDO:Redundant", source="OMIM:601005"} ! long QT syndrome +is_a: MONDO:0002442 {source="MESH:C536962", source="MONDO:Redundant", source="NCIT:C142894", source="OMIM:601005"} ! long QT syndrome is_a: MONDO:0019171 {source="MONDO:Entailed", source="OMIM:601005", source="Orphanet:65283"} ! familial long QT syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1390 {source="mim2gene_medgen"} ! CACNA1C relationship: disease_has_feature HP:0001279 {source="Wikidata"} ! Syncope @@ -212274,7 +214374,7 @@ xref: OMIM:601042 {source="Orphanet:53583", source="ORDO:53583/e", source="DOID: xref: Orphanet:53583 {source="DOID:0090044", source="MONDO:equivalentTo", source="OMIM:601042"} xref: SCTID:715564000 {source="MONDO:kboom-pr-1.00/0.81/10.37", source="MONDO:equivalentTo"} xref: UMLS:C1832855 {source="Orphanet:53583", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:601042"} -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:601042", source="linkedlifedata"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090044", source="MONDO:Redundant", source="OMIM:601042", source="linkedlifedata", source="linkedlifedata/inferred"} ! dystonic disorder is_a: MONDO:0016058 {source="Orphanet:53583", source="linkedlifedata"} ! paroxysmal dystonia property_value: confidence "2.0" xsd:double @@ -212301,7 +214401,7 @@ xref: UMLS:C1832845 {source="NCBI:mim2gene_medline", source="OMIM:601067"} xref: UMLS:C3152102 {source="OMIM:601067"} xref: UMLS:C3275872 {source="OMIM:601067"} is_a: MONDO:0010168 {source="DOID:0110831", source="MONDOLEX:0010984"} ! Usher syndrome type 1 -is_a: MONDO:0019501 {source="MONDO:Redundant", source="OMIM:601067"} ! Usher syndrome +is_a: MONDO:0019501 {source="DOID:0110831/inferred", source="MONDO:Redundant", source="OMIM:601067"} ! Usher syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13733 {source="mim2gene_medgen"} ! CDH23 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14674 {source="mim2gene_medgen"} ! PCDH15 property_value: confidence "2.4444444444444438" xsd:double @@ -212330,6 +214430,7 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di synonym: "auditory neuropathy, autosomal recessive, 1" RELATED [OMIM:601071] synonym: "auditory neuropathy, nonsyndromic recessive" RELATED [OMIM:601071] synonym: "autosomal recessive deafness 9" EXACT [DOID:0110535] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOF" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 9" EXACT [DOID:0110535, MONDORULE:1] synonym: "deafness, autosomal recessive 9" RELATED [MONDO:Lexical, OMIM:601071] synonym: "deafness, autosomal recessive 9; DFNB9" RELATED [OMIM:601071] @@ -212338,6 +214439,7 @@ synonym: "DFNB9" EXACT [DOID:0110535] synonym: "DFNB9" RELATED [MONDO:Lexical, OMIM:601071] synonym: "neurosensory nonsyndromic recessive deafness 9" EXACT [DOID:0110535, OMIM:601071] synonym: "NRSD9" EXACT [DOID:0110535] +synonym: "OTOF autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110535 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110535"} xref: OMIM:601071 {source="DOID:0110535", source="MONDO:equivalentTo"} @@ -212511,6 +214613,7 @@ def: "Any Charcot-Marie-tooth disease type 1 in which the cause of the disease i subset: gard_rare {source="GARD:0001247"} subset: ordo_disease {source="Orphanet:101083"} synonym: "Charcot Marie Tooth disease type 1C" RELATED [GARD:0001247] +synonym: "Charcot-Marie-tooth disease type 1 caused by mutation in LITAF" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1C" RELATED [GARD:0001247, MONDO:Lexical, OMIM:601098] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1C; CMT1C" RELATED [OMIM:601098] synonym: "Charcot-Marie-Tooth neuropathy type 1C" EXACT [DOID:0110151] @@ -212522,6 +214625,7 @@ synonym: "CMT1C" EXACT [DOID:0110151, MONDO:Lexical, OMIM:601098, Orphanet:10108 synonym: "HMSN 1C" RELATED [OMIM:601098] synonym: "HMSN IC" EXACT [DOID:0110151] synonym: "HMSN1C" EXACT [DOID:0110151] +synonym: "LITAF Charcot-Marie-tooth disease type 1" EXACT [MONDO:design_pattern] synonym: "neuropathy hereditary motor and sensory type 1C" EXACT [DOID:0110151] synonym: "neuropathy, hereditary motor and sensory, type 1C" RELATED [OMIM:601098] xref: DOID:0110151 {source="MONDO:equivalentTo"} @@ -212531,7 +214635,7 @@ xref: MESH:C537984 {source="Orphanet:101083", source="MONDO:ontobio", source="OR xref: OMIM:601098 {source="Orphanet:101083", source="ORDO:101083/e", source="MONDO:equivalentTo", source="DOID:0110151"} xref: Orphanet:101083 {source="OMIM:601098", source="MONDO:equivalentTo", source="DOID:0110151"} xref: UMLS:C0270913 {source="Orphanet:101083", source="NCBI:mim2gene_medline", source="ORDO:101083/e", source="MEDGEN:kboom-pr98-c99", source="OMIM:601098", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C537984", source="MONDO:Redundant", source="OMIM:601098", source="Orphanet:101083/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110151/inferred", source="MESH:C537984", source="MONDO:Redundant", source="OMIM:601098", source="Orphanet:101083/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0019011 {source="DOID:0110151", source="MONDO:Entailed", source="Orphanet:101083"} ! Charcot-Marie-tooth disease type 1 intersection_of: MONDO:0019011 ! Charcot-Marie-tooth disease type 1 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16841 ! LITAF @@ -212554,7 +214658,7 @@ xref: MESH:C537140 {source="MONDO:equivalentTo"} xref: OMIM:601101 {source="GARD:0009902", source="MONDO:equivalentTo"} xref: Orphanet:774 {source="OMIM:601101", source="GARD:0009902", source="MONDO:subClassOf"} xref: UMLS:C1832774 {source="OMIM:601101", source="GARD:0009902", source="NCBI:mim2gene_medline"} -is_a: MONDO:0019180 {source="DC-OMIM:601101", source="MONDOLEX:0010996", source="OMIM:601101"} ! hereditary hemorrhagic telangiectasia +is_a: MONDO:0019180 {source="DC-OMIM:601101", source="MESH:C537140", source="MONDOLEX:0010996", source="OMIM:601101"} ! hereditary hemorrhagic telangiectasia property_value: confidence "1.87291668178728" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9902/hereditary-hemorrhagic-telangiectasia-type-3 xsd:anyURI {source="GARD:0009902"} @@ -212617,7 +214721,7 @@ xref: Orphanet:79321 {source="OMIM:601110", source="MONDO:equivalentTo"} xref: SCTID:720976009 {source="MONDO:kboom-pr-1.00/0.80/9.57", source="MONDO:equivalentTo"} xref: UMLS:C1832736 {source="Orphanet:79321", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:601110", source="NCIT:C126870", source="MONDO:equivalentTo"} is_a: MONDO:0005500 {source="DC-OMIM:601110", source="MONDOLEX:0010998"} ! congenital disorder of glycosylation type I -is_a: MONDO:0015286 {source="MESH:C535742", source="MONDO:0010998/inferred", source="MONDO:Redundant", source="MONDOLEX:0010998/inferred", source="OMIM:601110", source="Orphanet:79321/inferred", source="linkedlifedata"} ! congenital disorder of glycosylation +is_a: MONDO:0015286 {source="MESH:C535742", source="MONDO:0010998/inferred", source="MONDO:Redundant", source="MONDOLEX:0010998/inferred", source="NCIT:C126870", source="OMIM:601110", source="Orphanet:79321/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79321"} ! disorder of protein N-glycosylation is_a: MONDO:0018286 {source="Orphanet:79321"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature is_a: MONDO:0018287 {source="Orphanet:79321"} ! congenital disorder of glycosylation with epilepsy as a major feature @@ -212668,9 +214772,11 @@ def: "Any Brugada syndrome in which the cause of the disease is a mutation in th synonym: "BRGDA1" EXACT [DOID:0110218, MONDO:Lexical, OMIM:601144] synonym: "Brugada syndrome 1" EXACT [MONDO:Lexical, OMIM:601144] synonym: "Brugada syndrome 1; BRGDA1" RELATED [OMIM:601144] +synonym: "Brugada syndrome caused by mutation in SCN5A" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 1" EXACT [DOID:0110218, MONDORULE:1, OMIM:601144] synonym: "Cardiac conduction defect, nonspecific" RELATED [OMIM:601144] synonym: "right bundle branch block, St segment elevation, and sudden death syndrome" RELATED [OMIM:601144] +synonym: "SCN5A Brugada syndrome" EXACT [MONDO:design_pattern] synonym: "sudden unexplained nocturnal death syndrome" RELATED [OMIM:601144] xref: DOID:0110218 {source="MONDO:equivalentTo"} xref: ICD10:I49.8 {source="DOID:0110218"} @@ -212690,8 +214796,10 @@ name: neuropathy, hereditary motor and sensory, type 6A def: "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the MFN2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Charcot-Marie-Tooth disease, type 6" RELATED [OMIM:601152] synonym: "Charcot-Marie-Tooth disease, type 6A" RELATED [OMIM:601152] +synonym: "hereditary motor and sensory neuropathy type 6 caused by mutation in MFN2" EXACT [MONDO:design_pattern] synonym: "HMSN 6A" RELATED [OMIM:601152] synonym: "HMSN6A" RELATED [MONDO:Lexical, OMIM:601152] +synonym: "MFN2 hereditary motor and sensory neuropathy type 6" EXACT [MONDO:design_pattern] synonym: "neuropathy, hereditary motor and sensory, type 6" RELATED [OMIM:601152] synonym: "neuropathy, hereditary motor and sensory, type VIA" RELATED [MONDO:Lexical, OMIM:601152] synonym: "neuropathy, hereditary motor and sensory, type VIA; HMSN6A" RELATED [OMIM:601152] @@ -212721,6 +214829,8 @@ synonym: "CMD1E" EXACT [DOID:0110433, MONDO:Lexical, OMIM:601154] synonym: "dilated cardiomyopathy type 1E" EXACT [DOID:0110433, MONDORULE:4] synonym: "dilated cardiomyopathy with conduction defect 2" EXACT [DOID:0110433] synonym: "dilated cardiomyopathy with conduction disorder and arrhythmia" EXACT [DOID:0110433] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in SCN5A" EXACT [MONDO:design_pattern] +synonym: "SCN5A familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110433 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110433", source="MONDO:subClassOf"} xref: MESH:C563384 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -212786,7 +214896,7 @@ xref: Orphanet:447753 {source="DOID:0110824", source="MONDO:equivalentTo"} xref: UMLS:C1832669 {source="NCBI:mim2gene_medline", source="OMIM:601162"} is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disease is_a: MONDO:0015091 {source="Orphanet:447753"} ! autosomal dominant spastic paraplegia type 9 -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:601162", source="Orphanet:447753/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110824", source="MESH:C536868", source="MONDO:Redundant", source="OMIM:601162", source="Orphanet:447753/inferred"} ! hereditary spastic paraplegia is_a: MONDO:0020225 {source="Orphanet:447753"} ! syndromic cataract relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9722 {source="mim2gene_medgen"} ! ALDH18A1 property_value: confidence "12.499999999999995" xsd:double @@ -212933,7 +215043,7 @@ xref: OMIM:601195 {source="Orphanet:139507", source="DOID:0111033", source="ORDO xref: Orphanet:139507 {source="DOID:0111033", source="MONDO:equivalentTo", source="OMIM:601195"} xref: SCTID:66576001 {source="MONDO:kboom-pr-0.99/0.73/4.99", source="MONDO:equivalentTo"} xref: UMLS:C0268063 {source="Orphanet:139507", source="NCBI:mim2gene_medline", source="OMIM:601195"} -is_a: MONDO:0006507 {source="DOID:0111033", source="MONDO:Redundant", source="OMIM:601195", source="linkedlifedata"} ! hereditary hemochromatosis +is_a: MONDO:0006507 {source="DOID:0111033", source="MONDO:Redundant", source="OMIM:601195", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary hemochromatosis is_a: MONDO:0015115 {source="MONDO:Redundant", source="Orphanet:139507"} ! rare metabolic liver disease property_value: confidence "6.4999999999999964" xsd:double @@ -212941,7 +215051,9 @@ property_value: confidence "6.4999999999999964" xsd:double id: MONDO:0011013 name: autosomal dominant hypocalcemia 1 def: "Any autosomal dominant hypocalcemia in which the cause of the disease is a mutation in the CASR gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant hypocalcemia caused by mutation in CASR" EXACT [MONDO:design_pattern] synonym: "autosomal dominant hypocalcemia type 1" EXACT [DOID:0090107, MONDORULE:1] +synonym: "CASR autosomal dominant hypocalcemia" EXACT [MONDO:design_pattern] synonym: "hypercalciuric hypocalcemia" RELATED [OMIM:601198] synonym: "HYPOC1" EXACT [DOID:0090107, MONDO:Lexical, OMIM:601198] synonym: "hypocalcemia, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:601198] @@ -212969,6 +215081,8 @@ name: pleuropulmonary blastoma def: "A malignant neoplasm affecting the lungs and/or the pleura. Pleuropulmonary blastoma is seen in children. Microscopically, the tumor may show features of chondrosarcoma, leiomyosarcoma, rhabdomyosarcoma, liposarcoma, or undifferentiated sarcoma. In approximately 25% of patients with pleuropulmonary blastoma, there are other lesions or neoplasms that may affect patients or their families, including lung or kidney cysts, and ovarian or testicular neoplasms. Heterozygous germline mutations in DICER1 gene have been identified in families harboring pleuropulmonary blastomas." [NCIT:C5669] subset: clingen subset: ordo_disease {source="Orphanet:64742"} +synonym: "childhood pulmonary blastoma" EXACT [MONDO:design_pattern] +synonym: "pediatric pulmonary blastoma" EXACT [MONDO:design_pattern] synonym: "pleuropulmonary blastoma" EXACT [MONDO:Lexical, NCIT:C5669, OMIM:601200] synonym: "pleuropulmonary blastoma (morphologic abnormality)" EXACT [DOID:4769, SCTID:128763002] synonym: "pleuropulmonary blastoma; PPB" RELATED [OMIM:601200] @@ -212994,7 +215108,7 @@ xref: SCTID:128763002 {source="DOID:4769"} xref: SCTID:707670009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4769", source="MONDO:equivalentTo"} xref: UMLS:C1266144 {source="OMIM:601200", source="NCIT:C5669", source="Orphanet:64742", source="ORDO:64742/e", source="DOID:4769", source="MONDO:equivalentTo"} xref: UMLS:CN072455 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0005565 {source="MONDO:Redundant", source="NCIT:C5669"} ! blastoma +is_a: MONDO:0005565 {source="DOID:4769/inferred", source="MONDO:Redundant", source="NCIT:C5669"} ! blastoma is_a: MONDO:0005933 {source="DOID:4769", source="MESH:C537516", source="MONDOLEX:0011014"} ! pulmonary blastoma intersection_of: MONDO:0005933 ! pulmonary blastoma intersection_of: has_modifier HP:0011463 ! Childhood onset @@ -213021,7 +215135,7 @@ xref: OMIM:601202 {source="DOID:0110257", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="OMIM:601202", source="MONDO:subClassOf"} xref: Orphanet:98988 {source="OMIM:601202", source="MONDO:subClassOf"} xref: UMLS:C1832609 {source="OMIM:601202", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C537774", source="MONDO:Redundant", source="OMIM:601202"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110257", source="MESH:C537774", source="MONDO:Redundant", source="OMIM:601202"} ! cataract (disease) is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract is_a: MONDO:0020373 {source="ORDO:98988/btnt"} ! early-onset anterior polar cataract is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt"} ! early-onset partial cataract @@ -213124,7 +215238,7 @@ xref: OMIM:601217 {source="ORDO:1014/e", source="Orphanet:1014", source="MONDO:e xref: Orphanet:1014 {source="OMIM:601217", source="MONDO:equivalentTo"} xref: SCTID:720981000 {source="MONDO:kboom-pr-0.74/0.37/0.51", source="MONDO:equivalentTo"} xref: UMLS:C1832593 {source="NCBI:mim2gene_medline", source="OMIM:601217", source="Orphanet:1014"} -is_a: MONDO:0004907 {source="MESH:C563370", source="Orphanet:1014", source="linkedlifedata"} ! alopecia +is_a: MONDO:0004907 {source="MESH:C563370", source="Orphanet:1014", source="linkedlifedata", source="linkedlifedata/inferred"} ! alopecia property_value: confidence "3.533333333333334" xsd:double [Term] @@ -213302,6 +215416,7 @@ name: autosomal recessive limb-girdle muscular dystrophy type 2F def: "Autosomal recessive limb-girdle muscular dystrophy type 2F (LGMD2F) is a subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable age of onset of progressive weakness and wasting of the proximal skeletal muscles of the shoulder and pelvic girdles, frequently associated with progressive respiratory muscle impairment and cardiomyopathy. Calf hypertrophy, muscle cramps and elevated serum creatine kinase levels are also observed. Neuropsychomotor development is usually normal." [Orphanet:219] subset: gard_rare subset: ordo_disease {source="Orphanet:219"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCD" EXACT [MONDO:design_pattern] synonym: "delta-sarcoglycanopathy" EXACT [DOID:0110280, Orphanet:219] synonym: "LGMD2F" EXACT [DOID:0110280, GARD:0008573, MESH:C535896, MONDO:Lexical, OMIM:601287, Orphanet:219] synonym: "limb-girdle muscular dystrophy due to delta-sarcoglycan deficiency" EXACT [DOID:0110280, Orphanet:219] @@ -213309,6 +215424,7 @@ synonym: "limb-girdle muscular dystrophy type 2F" RELATED [GARD:0008573] synonym: "muscular dystrophy limb-girdle with delta-sarcoglyan deficiency" RELATED [GARD:0008573, MESH:C535896] synonym: "muscular dystrophy, limb-girdle, type 2F" RELATED [MESH:C535896, MONDO:Lexical, OMIM:601287] synonym: "muscular dystrophy, limb-girdle, type 2F; LGMD2F" RELATED [OMIM:601287] +synonym: "SGCD autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110280 {source="MONDO:equivalentTo"} xref: GARD:0008573 {source="MONDO:equivalentTo"} xref: ICD10:G71.0 {source="ORDO:219/inclusion", source="Orphanet:219", source="MONDO:subClassOf", source="DOID:0110280", source="ORDO:219/ntbt"} @@ -213349,11 +215465,13 @@ id: MONDO:0011031 name: autosomal dominant nonsyndromic deafness 10 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the EYA4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 10" EXACT [DOID:0110542] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in EYA4" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 10" EXACT [DOID:0110542, MONDORULE:2] synonym: "deafness, autosomal dominant 10" RELATED [MONDO:Lexical, OMIM:601316] synonym: "deafness, autosomal dominant 10; DFNA10" RELATED [OMIM:601316] synonym: "deafness, autosomal dominant type 10" EXACT [MONDORULE:2, OMIM:601316] synonym: "DFNA10" EXACT [DOID:0110542, MONDO:Lexical, OMIM:601316] +synonym: "EYA4 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110542 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110542"} xref: MESH:C563354 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -213369,11 +215487,13 @@ id: MONDO:0011032 name: autosomal dominant nonsyndromic deafness 11 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO7A gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 11" EXACT [DOID:0110543] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO7A" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 11" EXACT [DOID:0110543, MONDORULE:2] synonym: "deafness, autosomal dominant 11" RELATED [MONDO:Lexical, OMIM:601317] synonym: "deafness, autosomal dominant 11; DFNA11" RELATED [OMIM:601317] synonym: "deafness, autosomal dominant type 11" EXACT [MONDORULE:2, OMIM:601317] synonym: "DFNA11" EXACT [DOID:0110543, MONDO:Lexical, OMIM:601317] +synonym: "MYO7A autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110543 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110543"} xref: MESH:C563353 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -213643,7 +215763,7 @@ xref: OMIM:601351 {source="Orphanet:3218", source="ORDO:3218/e", source="MONDO:e xref: Orphanet:3218 {source="OMIM:601351", source="MONDO:equivalentTo"} xref: SCTID:716238003 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"} xref: UMLS:C1832438 {source="NCBI:mim2gene_medline", source="Orphanet:3218", source="OMIM:601351", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="Orphanet:3218/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="Orphanet:3218/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0019589 {source="Orphanet:3218"} ! syndromic genetic deafness property_value: confidence "8.6" xsd:double @@ -213843,6 +215963,7 @@ synonym: "cerebrovascular accident" RELATED [DOID:6713, OMIM:601367] synonym: "cerebrovascular accident (disorder)" RELATED [DOID:6713, SCTID:230690007] synonym: "cerebrovascular disease" EXACT [NCIT:C2938] synonym: "cerebrovascular disorder" EXACT [DOID:6713, NCIT:C2938] +synonym: "CVA" EXACT [DOID:6713] synonym: "CVA (cerebral vascular accident)" EXACT [CSP2005:0617-5539, DOID:6713] synonym: "stroke" RELATED [DOID:6713] synonym: "stroke, ischemic" RELATED [OMIM:601367] @@ -213878,9 +215999,9 @@ xref: SCTID:82797006 {source="DOID:6713"} xref: UMLS:C0007820 {source="DOID:6713", source="MONDO:equivalentTo", source="NCIT:C2938"} xref: UMLS:C0038454 {source="DOID:6713", source="OMIM:601367"} xref: UMLS:C0948008 {source="OMIM:601367", source="NCBI:mim2gene_medline"} -is_a: MONDO:0004995 {source="EFO:0003763/inferred", source="ICD10:I60.I69", source="MESH:D002561/inferred", source="MONDO:Redundant", source="NCIT:C2938/inferred", source="linkedlife/inferred"} ! cardiovascular disease -is_a: MONDO:0005385 {source="MESH:D002561", source="MONDO:Redundant", source="NCIT:C2938/inferred", source="SCTID:62914000", source="linkedlife", source="linkedlifedata"} ! vascular disease -is_a: MONDO:0005560 {source="MESH:D002561", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-20"} ! brain disease +is_a: MONDO:0004995 {source="DOID:6713/inferred", source="EFO:0003763/inferred", source="ICD10:I60.I69", source="MESH:D002561/inferred", source="MONDO:Redundant", source="NCIT:C2938/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! cardiovascular disease +is_a: MONDO:0005385 {source="DOID:6713/inferred", source="MESH:D002561", source="MONDO:Redundant", source="NCIT:C2938/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! vascular disease +is_a: MONDO:0005560 {source="DOID:6713", source="MESH:D002561", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-20"} ! brain disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3535 {source="mim2gene_medgen"} ! F2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3542 {source="mim2gene_medgen"} ! F5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/436 {source="mim2gene_medgen"} ! ALOX5AP @@ -213895,7 +216016,9 @@ id: MONDO:0011058 name: autosomal dominant nonsyndromic deafness 9 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COCH gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 9" EXACT [DOID:0110593] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in COCH" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 9" EXACT [DOID:0110593, MONDORULE:1] +synonym: "COCH autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal dominant 9" RELATED [MONDO:Lexical, OMIM:601369] synonym: "deafness, autosomal dominant 9; DFNA9" RELATED [OMIM:601369] synonym: "deafness, autosomal dominant type 9" EXACT [MONDORULE:1, OMIM:601369] @@ -214080,6 +216203,7 @@ subset: gard_rare {source="GARD:0001253"} subset: ordo_disease {source="Orphanet:99955"} synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B1" EXACT [DOID:0110191] synonym: "Charcot Marie Tooth disease type 4B1" RELATED [GARD:0001253] +synonym: "Charcot-Marie-tooth disease type 4 caused by mutation in MTMR2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, autosomal recessive, with focally folded myelin sheaths, autosomal recessive, type 4B1" RELATED [OMIM:601382] synonym: "Charcot-Marie-Tooth disease, type 4B" RELATED [OMIM:601382] synonym: "Charcot-Marie-Tooth disease, type 4B1" RELATED [MONDO:Lexical, OMIM:601382] @@ -214089,6 +216213,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 4B1" RELATED [OMIM:601382] synonym: "CMT 4B" RELATED [GARD:0001253] synonym: "CMT 4B1" RELATED [GARD:0001253] synonym: "CMT4B1" EXACT [DOID:0110191, MONDO:Lexical, OMIM:601382, Orphanet:99955] +synonym: "MTMR2 Charcot-Marie-tooth disease type 4" EXACT [MONDO:design_pattern] xref: DOID:0110191 {source="MONDO:equivalentTo"} xref: GARD:0001253 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="Orphanet:99955", source="ORDO:99955/ntbt", source="DOID:0110191", source="ORDO:99955/attributed"} @@ -214097,7 +216222,7 @@ xref: OMIM:601382 {source="Orphanet:99955", source="ORDO:99955/e", source="DOID: xref: Orphanet:99955 {source="DOID:0110191", source="MONDO:equivalentTo", source="OMIM:601382"} xref: SCTID:715803003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1832399 {source="NCBI:mim2gene_medline", source="Orphanet:99955", source="ORDO:99955/e", source="MONDO:equivalentTo", source="OMIM:601382"} -is_a: MONDO:0015626 {source="MESH:C535420", source="MONDO:Redundant", source="OMIM:601382", source="Orphanet:99955/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110191/inferred", source="MESH:C535420", source="MONDO:Redundant", source="OMIM:601382", source="Orphanet:99955/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018995 {source="DOID:0110191", source="Orphanet:99955", source="linkedlifedata"} ! Charcot-Marie-tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-tooth disease type 4 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7450 ! MTMR2 @@ -214131,12 +216256,14 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/81 id: MONDO:0011068 name: type 1 diabetes mellitus 12 def: "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CTLA4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CTLA4 type 1 diabetes mellitus" EXACT [MONDO:design_pattern] synonym: "diabetes mellitus, insulin-dependent, 12" RELATED [MONDO:Lexical, OMIM:601388] synonym: "diabetes mellitus, insulin-dependent, 12; IDDM12" RELATED [OMIM:601388] synonym: "diabetes mellitus, insulin-dependent, type 12" EXACT [MONDORULE:2, OMIM:601388] synonym: "IDDM12" EXACT [DOID:0110751] synonym: "IDDM12" RELATED [MONDO:Lexical, OMIM:601388] synonym: "insulin-dependent diabetes mellitus 12" EXACT [DOID:0110751, OMIM:601388] +synonym: "type 1 diabetes mellitus caused by mutation in CTLA4" EXACT [MONDO:design_pattern] xref: DOID:0110751 {source="MONDO:equivalentTo"} xref: ICD10:E10 {source="DOID:0110751"} xref: MESH:C563326 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -214166,8 +216293,10 @@ id: MONDO:0011070 name: van Maldergem syndrome 1 def: "Any van Maldergem syndrome in which the cause of the disease is a mutation in the DCHS1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Cerebrofacioarticular syndrome" RELATED [OMIM:601390] +synonym: "DCHS1 van Maldergem syndrome" EXACT [MONDO:design_pattern] synonym: "van Maldergem syndrome 1" EXACT [MONDO:Lexical, OMIM:601390] synonym: "VAN Maldergem syndrome 1; VMLDS1" RELATED [OMIM:601390] +synonym: "van Maldergem syndrome caused by mutation in DCHS1" EXACT [MONDO:design_pattern] synonym: "Van Maldergem syndrome type 1" EXACT [MONDORULE:1, OMIM:601390] synonym: "VMLDS1" RELATED [MONDO:Lexical, OMIM:601390] xref: OMIM:601390 {source="MONDO:equivalentTo"} @@ -214263,8 +216392,10 @@ id: MONDO:0011075 name: retinitis pigmentosa 18 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF3 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010392"} +synonym: "PRPF3 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 18" EXACT [MONDO:Lexical, OMIM:601414] synonym: "retinitis pigmentosa 18; RP18" RELATED [OMIM:601414] +synonym: "retinitis pigmentosa caused by mutation in PRPF3" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 18" EXACT [DOID:0110356, MONDORULE:2, OMIM:601414] synonym: "RP 18" RELATED [GARD:0010392] synonym: "RP18" EXACT [DOID:0110356, MONDO:Lexical, OMIM:601414] @@ -214392,7 +216523,7 @@ xref: Orphanet:3235 {source="OMIM:601449", source="MONDO:equivalentTo"} xref: SCTID:715529009 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1832354 {source="NCBI:mim2gene_medline", source="OMIM:601449", source="Orphanet:3235", source="MONDO:equivalentTo"} xref: UMLS:C1844678 {source="ORDO:3235/e", source="MONDO:relatedTo", source="Orphanet:3235"} -is_a: MONDO:0003847 {source="Orphanet:3235/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="Orphanet:3235/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0019589 {source="Orphanet:3235"} ! syndromic genetic deafness property_value: confidence "0.16666666666666674" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5170/progressive-deafness-with-stapes-fixation xsd:anyURI {source="GARD:0005170"} @@ -214405,7 +216536,7 @@ subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:2412"} synonym: "Collins Pope syndrome" RELATED [GARD:0001428] synonym: "Collins-Pope syndrome" EXACT [Orphanet:2412] -synonym: "dislocation of hip, congenital, with hyperextensibility of fingers and facial DYSMORPHISM" RELATED [OMIM:601450] +synonym: "dislocation of hip, congenital, with hyperextensibility of fingers and facial dysmorphism" RELATED [OMIM:601450] synonym: "dislocation of the hip dysmorphism" RELATED [GARD:0001428] synonym: "hip, congenital dislocation of, with hyperextensibility of fingers and Facial Dysmorphism" RELATED [OMIM:601450] xref: GARD:0001428 {source="MONDO:equivalentTo"} @@ -214426,8 +216557,8 @@ name: oculoauriculofrontonasal syndrome subset: gard_rare {source="GARD:0004031"} subset: ordo_malformation_syndrome {source="Orphanet:398156"} synonym: "OAFNS" EXACT [MONDO:Lexical, OMIM:601452, Orphanet:398156] -synonym: "Oculoauriculofrontonasal dysplasia" RELATED [OMIM:601452] -synonym: "Oculoauriculofrontonasal syndrome" EXACT [MONDO:Lexical, OMIM:601452] +synonym: "oculoauriculofrontonasal dysplasia" RELATED [OMIM:601452] +synonym: "oculoauriculofrontonasal syndrome" EXACT [MONDO:Lexical, OMIM:601452] synonym: "OCULOAURICULOFRONTONASAL syndrome; OAFNS" RELATED [OMIM:601452] xref: GARD:0004031 {source="MONDO:equivalentTo"} xref: ICD10:Q87.0 {source="ORDO:398156/ntbt", source="ORDO:398156/attributed", source="Orphanet:398156"} @@ -214457,7 +216588,7 @@ xref: SCTID:277810000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0406724 {source="ORDO:3351/e", source="OMIM:601453", source="Orphanet:3351", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015336 {source="Orphanet:3351"} ! malformation syndrome with odontal and/or periodontal component is_a: MONDO:0019282 {source="Orphanet:3351"} ! syndromic hair shaft abnormality -is_a: MONDO:0019287 {source="MESH:C536551", source="Orphanet:3351", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MESH:C536551", source="Orphanet:3351", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome property_value: confidence "8.6" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/265/trichodental-syndrome xsd:anyURI {source="GARD:0000265"} @@ -214479,6 +216610,7 @@ def: "Charcot-Marie-Tooth disease type 4D (CMT4D) is a subtype of Charcot-Marie- subset: gard_rare {source="GARD:0003973"} subset: ordo_disease {source="Orphanet:99950"} synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4D" EXACT [DOID:0110186] +synonym: "Charcot-Marie-tooth disease type 4 caused by mutation in NDRG1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4D" RELATED [OMIM:601455] synonym: "Charcot-Marie-Tooth disease, type 4D" RELATED [GARD:0003973, MONDO:Lexical, OMIM:601455] synonym: "Charcot-Marie-Tooth disease, type 4D; CMT4D" RELATED [OMIM:601455] @@ -214493,6 +216625,7 @@ synonym: "HMSN-Lom" EXACT [DOID:0110186, Orphanet:99950] synonym: "HMSN4D" EXACT [DOID:0110186] synonym: "Hmsn4D" RELATED [OMIM:601455] synonym: "HMSNL" EXACT [DOID:0110186] +synonym: "NDRG1 Charcot-Marie-tooth disease type 4" EXACT [MONDO:design_pattern] synonym: "neuropathy, hereditary motor and sensory, Lom type" RELATED [OMIM:601455] synonym: "NMSL" RELATED [GARD:0003973] xref: DOID:0110186 {source="MONDO:equivalentTo"} @@ -214503,7 +216636,7 @@ xref: OMIM:601455 {source="DOID:0110186", source="ORDO:99950/e", source="Orphane xref: Orphanet:99950 {source="OMIM:601455", source="DOID:0110186", source="MONDO:equivalentTo"} xref: SCTID:715798007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1832334 {source="OMIM:601455", source="NCBI:mim2gene_medline", source="ORDO:99950/e", source="Orphanet:99950", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C535716", source="MONDO:Redundant", source="OMIM:601455", source="Orphanet:99950/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110186/inferred", source="MESH:C535716", source="MONDO:Redundant", source="OMIM:601455", source="Orphanet:99950/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018995 {source="DOID:0110186", source="Orphanet:99950", source="linkedlifedata"} ! Charcot-Marie-tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-tooth disease type 4 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7679 ! NDRG1 @@ -214557,13 +216690,15 @@ is_a: MONDO:0005265 {source="DC-OMIM:601458", source="DOID:0110900", source="MES id: MONDO:0011088 name: congenital myasthenic syndrome 1A def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the CHRNA1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CHRNA1 congenital myasthenic syndrome" EXACT [MONDO:design_pattern] synonym: "CMS IIa" EXACT [DOID:0110663] -synonym: "Cms Iia" RELATED [OMIM:601462] -synonym: "Cms Iia, formerly" RELATED [OMIM:601462] +synonym: "Cms IIa" RELATED [OMIM:601462] +synonym: "Cms IIa, formerly" RELATED [OMIM:601462] synonym: "CMS1A" EXACT [DOID:0110663] synonym: "CMS1A" RELATED [MONDO:Lexical, OMIM:601462] synonym: "CMS2A" EXACT [DOID:0110663] synonym: "congenital myasthenic syndrome 1A, slow-channel" EXACT [DOID:0110663] +synonym: "congenital myasthenic syndrome caused by mutation in CHRNA1" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 1A" EXACT [DOID:0110663, MONDORULE:4] synonym: "congenital myasthenic syndrome type IIa" EXACT [DOID:0110663] synonym: "myasthenic syndrome, congenital, 1A, slow-channel" RELATED [MONDO:Lexical, OMIM:601462] @@ -214576,7 +216711,7 @@ xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:601462"} xref: Orphanet:98913 {source="MONDO:subClassOf", source="OMIM:601462"} xref: UMLS:C0751885 {source="NCBI:mim2gene_medline", source="OMIM:601462"} xref: UMLS:C2931107 {source="OMIM:601462"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:601462"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110663", source="MONDO:Redundant", source="OMIM:601462"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1955 ! CHRNA1 @@ -214635,6 +216770,7 @@ subset: ordo_disease {source="Orphanet:99938"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2D" EXACT [DOID:0110164] synonym: "Charcot Marie Tooth disease type 2D" RELATED [GARD:0001251] synonym: "Charcot-Marie-Tooth disease neuronal type 2D" EXACT [DOID:0110164] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in GARS" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, type 2D" RELATED [GARD:0001251, MONDO:Lexical, OMIM:601472] synonym: "Charcot-Marie-Tooth disease, axonal, type 2D; CMT2D" RELATED [OMIM:601472] synonym: "Charcot-Marie-Tooth disease, neuronal, type 2D" RELATED [OMIM:601472] @@ -214642,6 +216778,7 @@ synonym: "Charcot-Marie-Tooth neuropathy type 2D" EXACT [DOID:0110164] synonym: "Charcot-Marie-Tooth neuropathy, type 2D" RELATED [OMIM:601472] synonym: "CMT 2D" RELATED [GARD:0001251] synonym: "CMT2D" EXACT [DOID:0110164, MONDO:Lexical, OMIM:601472, Orphanet:99938] +synonym: "GARS Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110164 {source="MONDO:equivalentTo"} xref: GARD:0001251 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="DOID:0110164", source="ORDO:99938/ntbt", source="ORDO:99938/attributed", source="Orphanet:99938"} @@ -214652,7 +216789,7 @@ xref: Orphanet:99938 {source="DOID:0110164", source="OMIM:601472", source="MONDO xref: SCTID:717011006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1832274 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="NCIT:C122659", source="OMIM:601472", source="MONDO:equivalentTo", source="Orphanet:99938"} xref: UMLS:C4274109 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C537993", source="MONDO:Redundant", source="NCIT:C122659", source="OMIM:601472", source="Orphanet:99938/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110164/inferred", source="MESH:C537993", source="MONDO:Redundant", source="NCIT:C122659", source="OMIM:601472", source="Orphanet:99938/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110164", source="Orphanet:99938"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4162 ! GARS @@ -214682,7 +216819,7 @@ name: mucopolysaccharidosis type 9 def: "An autosomal recessive lysosomal storage disease caused by mutation(s) in the HYAL1 gene, encoding hyaluronidase-1. It is characterized by short stature and hyaluronidase deficiency." [NCIT:C129073] subset: ordo_disease {source="Orphanet:67041"} synonym: "hyaluronidase deficiency" RELATED [OMIM:601492] -synonym: "Mps 9" RELATED [OMIM:601492] +synonym: "MPS 9" RELATED [OMIM:601492] synonym: "MPS9" EXACT [MONDO:Lexical, OMIM:601492, Orphanet:67041] synonym: "MPSIX" EXACT [Orphanet:67041] synonym: "mucopolysaccharidosis IX" RELATED [DOID:0050809] @@ -214741,7 +216878,9 @@ synonym: "cardiomyopathy, dilated, 1D; CMD1D" RELATED [OMIM:601494] synonym: "cardiomyopathy, dilated, type 1D" EXACT [MONDORULE:4, OMIM:601494] synonym: "CMD1D" EXACT [DOID:0110426, MONDO:Lexical, OMIM:601494] synonym: "dilated cardiomyopathy type 1D" EXACT [DOID:0110426, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction 6" RELATED [OMIM:601494] +synonym: "TNNT2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110426 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110426", source="MONDO:subClassOf"} xref: MESH:C563306 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -214808,11 +216947,13 @@ property_value: confidence "0.9131875999999999" xsd:double id: MONDO:0011098 name: prostate cancer, hereditary, 1 def: "Any familial prostate cancer in which the cause of the disease is a mutation in the RNASEL gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial prostate cancer caused by mutation in RNASEL" EXACT [MONDO:design_pattern] synonym: "HPC1" RELATED [MONDO:Lexical, OMIM:601518] synonym: "Prca1" RELATED [OMIM:601518] synonym: "prostate cancer, hereditary, 1" EXACT [MONDO:Lexical, OMIM:601518] synonym: "prostate cancer, hereditary, 1; HPC1" RELATED [OMIM:601518] synonym: "prostate cancer, hereditary, type 1" EXACT [MONDORULE:1, OMIM:601518] +synonym: "RNASEL familial prostate cancer" EXACT [MONDO:design_pattern] xref: OMIM:601518 {source="MONDO:equivalentTo"} xref: UMLS:C2931456 {source="NCBI:mim2gene_medline", source="OMIM:601518", source="MONDO:subClassOf"} is_a: MONDO:0008315 {source="DC-OMIM:601518", source="MONDO:0011098/inferred", source="MONDO:Redundant", source="MONDOLEX:0011098/inferred"} ! prostate cancer @@ -214847,7 +216988,7 @@ xref: Orphanet:69739 {source="OMIM:601536", source="MONDO:equivalentTo"} xref: SCTID:720518006 {source="MONDO:equivalentTo"} xref: UMLS:C1832215 {source="NCBI:mim2gene_medline", source="OMIM:601536", source="Orphanet:69739", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="ORDO:69739/e"} xref: UMLS:C1832216 {source="OMIM:601536"} -is_a: MONDO:0006025 {source="DOID:0050682"} ! autosomal recessive disease +is_a: MONDO:0006025 {source="DOID:0050682", source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:69739"} ! genetic nervous system disorder is_a: MONDO:0019589 {source="Orphanet:69739"} ! syndromic genetic deafness relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5099 {source="mim2gene_medgen"} ! HOXA1 @@ -214890,6 +217031,7 @@ name: autosomal dominant nonsyndromic deafness 12 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 12" EXACT [DOID:0110544] synonym: "autosomal dominant deafness 8" EXACT [DOID:0110544] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TECTA" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 12" EXACT [DOID:0110544, MONDORULE:2] synonym: "deafness, autosomal dominant 12" RELATED [MONDO:Lexical, OMIM:601543] synonym: "deafness, autosomal dominant 12; DFNA12" RELATED [OMIM:601543] @@ -214897,6 +217039,7 @@ synonym: "deafness, autosomal dominant 8" RELATED [OMIM:601543] synonym: "deafness, autosomal dominant type 12" EXACT [MONDORULE:2, OMIM:601543] synonym: "DFNA12" EXACT [DOID:0110544, MONDO:Lexical, OMIM:601543] synonym: "DFNA8" EXACT [DOID:0110544] +synonym: "TECTA autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110544 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110544"} xref: MESH:C563295 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -214913,6 +217056,7 @@ name: autosomal dominant nonsyndromic deafness 3A def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB2 gene." [MONDO:patterns/disease_series_by_gene] comment: Editor note: consider adding grouping for 3A/3B synonym: "autosomal dominant deafness 3A" EXACT [DOID:0110564] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB2" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 3A" EXACT [DOID:0110564, MONDORULE:4] synonym: "deafness, autosomal dominant 3A" RELATED [MONDO:Lexical, OMIM:601544] synonym: "deafness, autosomal dominant 3A; DFNA3A" RELATED [OMIM:601544] @@ -214920,6 +217064,7 @@ synonym: "deafness, autosomal dominant nonsyndromic sensorineural 3" RELATED [GA synonym: "deafness, autosomal dominant type 3A" EXACT [MONDORULE:4, OMIM:601544] synonym: "DFNA3" RELATED [GARD:0009933] synonym: "DFNA3A" EXACT [DOID:0110564, MONDO:Lexical, OMIM:601544] +synonym: "GJB2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "neurosensory nonsyndromic dominant deafness 1" RELATED [GARD:0009933] synonym: "NSRD1" RELATED [GARD:0009933] xref: DOID:0110564 {source="MONDO:equivalentTo"} @@ -214958,7 +217103,7 @@ xref: Orphanet:98989 {source="OMIM:601547", source="MONDO:subClassOf", source="M xref: Orphanet:98991 {source="OMIM:601547", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: Orphanet:98994 {source="OMIM:601547", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C1832175 {source="NCBI:mim2gene_medline", source="OMIM:601547", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C563294", source="OMIM:601547"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110269", source="MESH:C563294", source="OMIM:601547"} ! cataract (disease) intersection_of: MONDO:0005129 ! cataract (disease) intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2398 ! CRYBB2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2398 {source="mim2gene_medgen"} ! CRYBB2 @@ -214984,8 +217129,8 @@ name: facial dysmorphism-lens dislocation-anterior segment abnormalities-spontan def: "Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome is a syndromic developmental defect of the eye characterized by dislocated or subluxated crystalline lenses, anterior segment abnormalities, and distinctive facial features such as flat cheeks and a prominent, beaked nose. Affected individuals may develop nontraumatic conjunctival cysts, also referred to as filtering blebs." [Orphanet:412022] subset: ordo_malformation_syndrome {source="Orphanet:412022"} synonym: "ectopia lentis, spontaneous filtering blebs, and craniofacial Dysmorphism" RELATED [OMIM:601552] -synonym: "facial DYSMORPHISM, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" RELATED [MONDO:Lexical, OMIM:601552] -synonym: "facial DYSMORPHISM, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs; FDLAB" RELATED [OMIM:601552] +synonym: "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs" RELATED [MONDO:Lexical, OMIM:601552] +synonym: "facial dysmorphism, lens dislocation, anterior segment abnormalities, and spontaneous filtering blebs; FDLAB" RELATED [OMIM:601552] synonym: "Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome" EXACT [Orphanet:412022] synonym: "FDLAB" RELATED [MONDO:Lexical, OMIM:601552] synonym: "FDLAB syndrome" EXACT [Orphanet:412022] @@ -215135,6 +217280,7 @@ subset: gard_rare {source="GARD:0009201"} subset: ordo_disease {source="Orphanet:99949"} synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4C" EXACT [DOID:0110183] synonym: "Charcot Marie Tooth disease type 4C" RELATED [GARD:0009201] +synonym: "Charcot-Marie-tooth disease type 4 caused by mutation in SH3TC2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4C" RELATED [OMIM:601596] synonym: "Charcot-Marie-Tooth disease, type 4C" RELATED [MONDO:Lexical, OMIM:601596] synonym: "Charcot-Marie-Tooth disease, type 4C; CMT4C" RELATED [OMIM:601596] @@ -215142,6 +217288,7 @@ synonym: "Charcot-Marie-Tooth neuropathy type 4C" EXACT [DOID:0110183] synonym: "Charcot-Marie-Tooth neuropathy, type 4C" RELATED [OMIM:601596] synonym: "CMT 4C" RELATED [GARD:0009201] synonym: "CMT4C" EXACT [DOID:0110183, MONDO:Lexical, OMIM:601596, Orphanet:99949] +synonym: "SH3TC2 Charcot-Marie-tooth disease type 4" EXACT [MONDO:design_pattern] xref: DOID:0110183 {source="MONDO:equivalentTo"} xref: GARD:0009201 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="ORDO:99949/attributed", source="DOID:0110183", source="ORDO:99949/ntbt", source="Orphanet:99949"} @@ -215151,7 +217298,7 @@ xref: OMIM:601596 {source="ORDO:99949/e", source="DOID:0110183", source="MONDO:e xref: Orphanet:99949 {source="OMIM:601596", source="DOID:0110183", source="MONDO:equivalentTo"} xref: SCTID:715797002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1866636 {source="OMIM:601596", source="NCBI:mim2gene_medline", source="NCIT:C129864", source="ORDO:99949/e", source="MONDO:equivalentTo", source="Orphanet:99949"} -is_a: MONDO:0015626 {source="MESH:C535423", source="MONDO:Redundant", source="NCIT:C129864", source="OMIM:601596", source="Orphanet:99949/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110183/inferred", source="MESH:C535423", source="MONDO:Redundant", source="NCIT:C129864", source="OMIM:601596", source="Orphanet:99949/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018995 {source="DOID:0110183", source="Orphanet:99949", source="linkedlifedata"} ! Charcot-Marie-tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-tooth disease type 4 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29427 ! SH3TC2 @@ -215282,10 +217429,12 @@ name: paragangliomas 2 def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHAF2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010544"} synonym: "glomus tumors, familial, 2" RELATED [OMIM:601650] +synonym: "paraganglioma caused by mutation in SDHAF2" EXACT [MONDO:design_pattern] synonym: "paragangliomas 2" EXACT [MONDO:Lexical, OMIM:601650] synonym: "paragangliomas 2; PGL2" RELATED [OMIM:601650] synonym: "paragangliomas type 2" EXACT [MONDORULE:1, OMIM:601650] synonym: "PGL2" RELATED [MONDO:Lexical, OMIM:601650] +synonym: "SDHAF2 paraganglioma" EXACT [MONDO:design_pattern] synonym: "SDHAF2-Related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 2)" RELATED [GARD:0010544] xref: GARD:0010544 {source="MONDO:equivalentTo"} xref: MESH:C566646 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -215419,6 +217568,7 @@ synonym: "antenatal Bartter syndrome" RELATED [Orphanet:93604] synonym: "antenatal Bartter syndrome type 1" RELATED [GARD:0000830] synonym: "BARTS1" EXACT [DOID:0110142] synonym: "Bartter syndrome antenatal type 1" RELATED [GARD:0000830] +synonym: "Bartter syndrome caused by mutation in SLC12A1" EXACT [MONDO:design_pattern] synonym: "Bartter syndrome type 1" EXACT [DOID:0110142] synonym: "Bartter syndrome type 1 antenatal" EXACT [DOID:0110142] synonym: "Bartter syndrome, antenatal, type 1" RELATED [OMIM:601678] @@ -215433,6 +217583,7 @@ synonym: "hypokalemic alkalosis with hypercalciuria 1 antenatal" EXACT [DOID:011 synonym: "hypokalemic alkalosis with hypercalciuria 1, antenatal" RELATED [OMIM:601678] synonym: "hypokalemic alkalosis with hypercalciuria antenatal 1" RELATED [GARD:0000830] synonym: "hypokalemic alkalosis with hypercalciuria, antenatal, 1" RELATED [OMIM:601678] +synonym: "SLC12A1 Bartter syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110142 {source="MONDO:equivalentTo"} xref: GARD:0000830 {source="MONDO:equivalentTo"} xref: ICD10:E26.8 {source="DOID:0110142", source="ORDO:93604/attributed", source="Orphanet:93604", source="ORDO:93604/ntbt"} @@ -215444,7 +217595,7 @@ xref: Orphanet:112 {source="OMIM:601678", source="MONDO:subClassOf"} xref: Orphanet:93604 {source="OMIM:601678", source="MONDO:equivalentTo"} xref: SCTID:700107006 {source="MONDO:kboom-pr-0.75/0.37/0.59", source="MONDO:equivalentTo"} xref: UMLS:C1866495 {source="NCBI:mim2gene_medline", source="OMIM:601678", source="GARD:0000830"} -is_a: MONDO:0015231 {source="DC-OMIM:601678", source="DOID:0110142", source="MESH:C537652", source="MONDOLEX:0011127", source="OMIM:601678", source="Orphanet:93604", source="linkedlifedata"} ! Bartter syndrome +is_a: MONDO:0015231 {source="DC-OMIM:601678", source="DOID:0110142", source="MESH:C537652", source="MONDOLEX:0011127", source="OMIM:601678", source="Orphanet:93604", source="linkedlifedata", source="linkedlifedata/inferred"} ! Bartter syndrome intersection_of: MONDO:0015231 ! Bartter syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10910 ! SLC12A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10910 {source="mim2gene_medgen"} ! SLC12A1 @@ -215494,6 +217645,7 @@ xref: OMIM:601682 {source="MONDO:equivalentTo"} xref: UMLS:C1866483 {source="NCBI:mim2gene_medline", source="OMIM:601682", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="MONDO:Redundant"} ! inherited genetic disease is_a: MONDO:0005338 {source="OMIM:601682"} ! open-angle glaucoma +is_a: MONDO:0020366 ! congenital glaucoma property_value: confidence "0.6519518666964457" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2484/glaucoma-type-1c xsd:anyURI {source="GARD:0002484"} @@ -215526,7 +217678,7 @@ xref: OMIM:601701 {source="ORDO:3354/e", source="MONDO:equivalentTo", source="Or xref: Orphanet:3354 {source="OMIM:601701", source="MONDO:equivalentTo"} xref: UMLS:C1866427 {source="NCBI:mim2gene_medline", source="OMIM:601701"} xref: UMLS:C2931256 {source="Orphanet:3354"} -is_a: MONDO:0019287 {source="MONDOLEX:0011131", source="Orphanet:3354"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MESH:C537441", source="MONDOLEX:0011131", source="Orphanet:3354"} ! ectodermal dysplasia syndrome property_value: confidence "9.0" xsd:double [Term] @@ -215553,7 +217705,7 @@ xref: OMIM:601705 {source="DOID:0060769", source="ORDO:169095/e", source="Orphan xref: Orphanet:169095 {source="DOID:0060769", source="OMIM:601705", source="MONDO:equivalentTo"} xref: SCTID:720345008 {source="MONDO:kboom-pr-1.00/0.81/10.69", source="MONDO:equivalentTo"} xref: UMLS:C1866426 {source="NCBI:mim2gene_medline", source="OMIM:601705", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015974 {source="DOID:0060769", source="MESH:C536781", source="linkedlifedata"} ! severe combined immunodeficiency (disease) +is_a: MONDO:0015974 {source="DOID:0060769", source="MESH:C536781", source="linkedlifedata", source="linkedlifedata/inferred"} ! severe combined immunodeficiency (disease) is_a: MONDO:0018035 {source="Orphanet:169095"} ! syndrome with combined immunodeficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12765 {source="mim2gene_medgen"} ! FOXN1 property_value: confidence "13.76923076923077" xsd:double @@ -215574,7 +217726,7 @@ xref: OMIM:601706 {source="Orphanet:3214", source="MONDO:equivalentTo", source=" xref: Orphanet:3214 {source="MONDO:equivalentTo", source="OMIM:601706"} xref: SCTID:721084001 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"} xref: UMLS:C1866425 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr97-c99", source="Orphanet:3214", source="MONDO:equivalentTo", source="ORDO:3214/e", source="OMIM:601706"} -is_a: MONDO:0019290 {source="Orphanet:3214"} ! hypopigmentation of the skin (disease) +is_a: MONDO:0019290 {source="MESH:C536771", source="Orphanet:3214"} ! hypopigmentation of the skin (disease) is_a: MONDO:0019589 {source="Orphanet:3214"} ! syndromic genetic deafness property_value: confidence "7.125" xsd:double @@ -215648,8 +217800,10 @@ id: MONDO:0011137 name: retinitis pigmentosa 19 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ABCA4 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010398"} +synonym: "ABCA4 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 19" EXACT [MONDO:Lexical, OMIM:601718] synonym: "retinitis pigmentosa 19; RP19" RELATED [OMIM:601718] +synonym: "retinitis pigmentosa caused by mutation in ABCA4" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 19" EXACT [DOID:0110354, MONDORULE:2, OMIM:601718] synonym: "RP 19" RELATED [GARD:0010398] synonym: "RP19" EXACT [DOID:0110354, MONDO:Lexical, OMIM:601718] @@ -215801,10 +217955,12 @@ name: cone-rod dystrophy 6 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." [MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 6" EXACT [MONDO:Lexical, OMIM:601777] synonym: "cone-ROD dystrophy 6; CORD6" RELATED [OMIM:601777] +synonym: "cone-rod dystrophy caused by mutation in GUCY2D" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 6" EXACT [MONDORULE:1, OMIM:601777] synonym: "cone-rod dystrophy type 6" EXACT [DOID:0111011, MONDORULE:1] synonym: "CORD6" EXACT [DOID:0111011] synonym: "CORD6" RELATED [MONDO:Lexical, OMIM:601777] +synonym: "GUCY2D cone-rod dystrophy" EXACT [MONDO:design_pattern] synonym: "RCD2" EXACT [DOID:0111011] synonym: "retinal cone dystrophy 2" EXACT [DOID:0111011, OMIM:601777] xref: DOID:0111011 {source="MONDO:equivalentTo"} @@ -215832,6 +217988,8 @@ synonym: "CLN6" EXACT [DOID:0110729, MONDO:Lexical, OMIM:601780] synonym: "CLN6 disease" RELATED [Orphanet:228363] synonym: "CLN6 disease, adult Kufs type A (subtype)" RELATED [GARD:0001224] synonym: "CLN6 disease, late infantile (subtype)" RELATED [GARD:0001224] +synonym: "CLN6 late infantile neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern] +synonym: "late infantile neuronal ceroid lipofuscinosis caused by mutation in CLN6" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis 6 variable age of onset" EXACT [DOID:0110729] synonym: "neuronal ceroid lipofuscinosis type 6" EXACT [DOID:0110729, MONDORULE:1] synonym: "neuronal ceroid lipofuscinosis, Gypsy/Indian early juvenile variant" RELATED [GARD:0001224] @@ -215846,7 +218004,7 @@ xref: Orphanet:228363 {source="DOID:0110729", source="OMIM:601780", source="MOND xref: Orphanet:79262 {source="MONDO:subClassOf", source="OMIM:601780"} xref: UMLS:C1866282 {source="NCBI:mim2gene_medline", source="Orphanet:228363", source="OMIM:601780"} is_a: MONDO:0015674 {source="ORDO:168491/btnt", source="Orphanet:228363"} ! late infantile neuronal ceroid lipofuscinosis -is_a: MONDO:0016295 {source="DOID", source="MONDO:Redundant", source="OMIM:601780", source="Orphanet:228363/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID", source="DOID:0110729", source="MONDO:Redundant", source="OMIM:601780", source="Orphanet:228363/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0019260 {source="MONDO:Redundant", source="ORDO:79262/btnt", source="Orphanet:228363"} ! adult neuronal ceroid lipofuscinosis intersection_of: MONDO:0015674 ! late infantile neuronal ceroid lipofuscinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2077 ! CLN6 @@ -216112,11 +218270,13 @@ name: progressive familial intrahepatic cholestasis type 2 def: "Progressive familial intrahepatic cholestasis type 2 (PFIC2), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a severe, neonatal, hereditary disorder in bile formation that is hepatocellular in origin and not associated with extrahepatic features. Initially, PFIC2 was reported under the name Byler syndrome." [Orphanet:79304] subset: gard_rare {source="GARD:0001288"} subset: ordo_clinical_subtype {source="Orphanet:79304"} +synonym: "ABCB11 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern] synonym: "BSEP deficiency" EXACT [Orphanet:79304] synonym: "cholestasis, progressive familial intrahepatic, 2" RELATED [MONDO:Lexical, OMIM:601847] synonym: "cholestasis, progressive familial intrahepatic, 2; PFIC2" RELATED [OMIM:601847] synonym: "cholestasis, progressive familial intrahepatic, type 2" EXACT [MONDORULE:1, OMIM:601847] synonym: "PFIC2" EXACT [MONDO:Lexical, OMIM:601847, Orphanet:79304] +synonym: "progressive familial intrahepatic cholestasis caused by mutation in ABCB11" EXACT [MONDO:design_pattern] synonym: "Severe ABCB11 deficiency" RELATED [GARD:0001288] xref: GARD:0001288 {source="MONDO:equivalentTo"} xref: ICD10:K76.8 {source="ORDO:79304/attributed", source="Orphanet:79304", source="ORDO:79304/ntbt"} @@ -216195,7 +218355,9 @@ id: MONDO:0011159 name: autosomal dominant nonsyndromic deafness 13 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 13" EXACT [DOID:0110545] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in COL11A2" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 13" EXACT [DOID:0110545, MONDORULE:2] +synonym: "COL11A2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal dominant 13" RELATED [MONDO:Lexical, OMIM:601868] synonym: "deafness, autosomal dominant 13; DFNA13" RELATED [OMIM:601868] synonym: "deafness, autosomal dominant type 13" EXACT [MONDORULE:2, OMIM:601868] @@ -216217,6 +218379,7 @@ def: "Any autosomal recessive nonsyndromic deafness in which the cause of the di synonym: "autosomal recessive deafness 15" EXACT [DOID:0110470] synonym: "autosomal recessive deafness 72" EXACT [DOID:0110470] synonym: "autosomal recessive deafness 95" EXACT [DOID:0110470] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GIPC3" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 15" EXACT [DOID:0110470, MONDORULE:2] synonym: "deafness, autosomal recessive 15" RELATED [MONDO:Lexical, OMIM:601869] synonym: "deafness, autosomal recessive 15; DFNB15" RELATED [OMIM:601869] @@ -216226,6 +218389,7 @@ synonym: "deafness, autosomal recessive type 15" EXACT [MONDORULE:2, OMIM:601869 synonym: "DFNB15" EXACT [DOID:0110470, MONDO:Lexical, OMIM:601869] synonym: "DFNB72" EXACT [DOID:0110470] synonym: "DFNB95" EXACT [DOID:0110470] +synonym: "GIPC3 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110470 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110470"} xref: MESH:C566611 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -216259,6 +218423,8 @@ synonym: "cataract 14, multiple types; CTRCT14" RELATED [OMIM:601885] synonym: "cataract, zonular pulverulent 3" RELATED [OMIM:601885] synonym: "CTRCT14" EXACT [DOID:0110253, MONDO:Lexical, OMIM:601885] synonym: "CZP3" NARROW [DOID:0110253] +synonym: "early-onset non-syndromic cataract caused by mutation in GJA3" EXACT [MONDO:design_pattern] +synonym: "GJA3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] synonym: "zonular pulverulent cataract 3" NARROW [DOID:0110253] xref: DOID:0110253 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110253"} @@ -216270,7 +218436,7 @@ xref: Orphanet:98986 {source="OMIM:601885"} xref: Orphanet:98991 {source="OMIM:601885", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: Orphanet:98993 {source="OMIM:601885", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C1866078 {source="NCBI:mim2gene_medline", source="OMIM:601885", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C566608", source="MONDO:Redundant", source="OMIM:601885"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110253", source="MESH:C566608", source="MONDO:Redundant", source="OMIM:601885"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4277 ! GJA3 @@ -216282,7 +218448,9 @@ id: MONDO:0011163 name: malignant hyperthermia, susceptibility to, 5 def: "Any malignant hyperthermia of anesthesia in which the cause of the disease is a mutation in the CACNA1S gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare +synonym: "CACNA1S malignant hyperthermia of anesthesia" EXACT [MONDO:design_pattern] synonym: "malignant hyperpyrexia susceptibility type 5" RELATED [GARD:0003367, MESH:C535698] +synonym: "malignant hyperthermia of anesthesia caused by mutation in CACNA1S" EXACT [MONDO:design_pattern] synonym: "malignant hyperthermia susceptibility type 5" RELATED [GARD:0003367] synonym: "malignant hyperthermia, susceptibility to, 5" EXACT [MESH:C535698, OMIM:601887] synonym: "malignant hyperthermia, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:601887] @@ -216326,6 +218494,8 @@ id: MONDO:0011165 name: glomerulopathy with fibronectin deposits 2 def: "Any fibronectin glomerulopathy in which the cause of the disease is a mutation in the FN1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "fibronectin glomerulopathy" RELATED [OMIM:601894] +synonym: "fibronectin glomerulopathy caused by mutation in FN1" EXACT [MONDO:design_pattern] +synonym: "FN1 fibronectin glomerulopathy" EXACT [MONDO:design_pattern] synonym: "GFND2" RELATED [MONDO:Lexical, OMIM:601894] synonym: "glomerular nephritis familial with fibronectin deposits" RELATED [GARD:0009914] synonym: "glomerular nephritis, familial, with fibronectin deposits" RELATED [OMIM:601894] @@ -216366,7 +218536,7 @@ xref: SCTID:721978002 {source="MONDO:kboom-pr-0.75/0.37/0.59", source="MONDO:equ xref: UMLS:C2677167 {source="Orphanet:86915", source="NCBI:mim2gene_medline", source="OMIM:601927"} xref: UMLS:C2930926 {source="GARD:0000284"} is_a: MONDO:0018722 {source="Orphanet:86915"} ! primary lymphedema with associated anomalies -is_a: MONDO:0019297 {source="MESH:C535539", source="MESH:C567398", source="MONDO:Redundant", source="Orphanet:86915/inferred", source="linkedlifedata"} ! lymphedema +is_a: MONDO:0019297 {source="MESH:C535539", source="MESH:C567398", source="MONDO:Redundant", source="Orphanet:86915/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymphedema is_a: MONDO:0019520 {source="Orphanet:86915"} ! syndromic lymphedema property_value: confidence "9.0" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/284/irons-bhan-syndrome xsd:anyURI {source="GARD:0000284"} @@ -216398,7 +218568,9 @@ synonym: "diabetes mellitus, insulin-dependent, 10; IDDM10" RELATED [OMIM:601942 synonym: "diabetes mellitus, insulin-dependent, type 10" EXACT [MONDORULE:2, OMIM:601942] synonym: "IDDM10" EXACT [DOID:0110749] synonym: "IDDM10" RELATED [MONDO:Lexical, OMIM:601942] +synonym: "IL2RA type 1 diabetes mellitus" EXACT [MONDO:design_pattern] synonym: "insulin-dependent diabetes mellitus 10" EXACT [DOID:0110749, OMIM:601942] +synonym: "type 1 diabetes mellitus caused by mutation in IL2RA" EXACT [MONDO:design_pattern] xref: DOID:0110749 {source="MONDO:equivalentTo"} xref: ICD10:E10 {source="DOID:0110749"} xref: MESH:C566602 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -216434,12 +218606,14 @@ id: MONDO:0011170 name: autosomal recessive limb-girdle muscular dystrophy type 2G def: "Autosomal recessive limb-girdle muscular dystrophy type 2G (LGMD2G) is a mild subtype of autosomal recessive limb-girdle muscular dystrophy characterized by a variable onset (ranging from infancy to adolescence) of progressive proximal upper and lower limb muscle weakness and atrophy. Mild scapular winging, calf hypertrophy, and lack of respiratory and cardiac involvement are also observed." [Orphanet:34514] subset: ordo_disease {source="Orphanet:34514"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TCAP" EXACT [MONDO:design_pattern] synonym: "LGMD2G" EXACT [DOID:0110281, Orphanet:34514] synonym: "LGMD2G" RELATED [MONDO:Lexical, OMIM:601954] synonym: "limb-girdle muscular dystrophy due to telethonin deficiency" EXACT [DOID:0110281, Orphanet:34514] synonym: "limb-girdle muscular dystrophy, type 2G" RELATED [GARD:0010471] synonym: "muscular dystrophy, limb-girdle, type 2G" EXACT [DOID:0110281, MONDO:Lexical, OMIM:601954] synonym: "muscular dystrophy, limb-girdle, type 2G; LGMD2G" RELATED [OMIM:601954] +synonym: "TCAP autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110281 {source="MONDO:equivalentTo"} xref: GARD:0010471 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G71.0 {source="Orphanet:34514", source="ORDO:34514/ntbt", source="ORDO:34514/inclusion", source="MONDO:subClassOf", source="DOID:0110281"} @@ -216470,7 +218644,7 @@ xref: Orphanet:69082 {source="OMIM:601957", source="MONDO:equivalentTo"} xref: SCTID:722063009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1865998 {source="NCBI:mim2gene_medline", source="OMIM:601957", source="MONDO:equivalentTo", source="Orphanet:69082"} is_a: MONDO:0015336 {source="Orphanet:69082"} ! malformation syndrome with odontal and/or periodontal component -is_a: MONDO:0019287 {source="MESH:C566598", source="Orphanet:69082", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MESH:C566598", source="Orphanet:69082", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome property_value: confidence "9.0" xsd:double [Term] @@ -216486,6 +218660,8 @@ is_a: MONDO:0003847 ! inherited genetic disease id: MONDO:0011173 name: thrombocythemia 2 def: "Any essential thrombocythemia in which the cause of the disease is a mutation in the MPL gene." [MONDO:patterns/disease_series_by_gene] +synonym: "essential thrombocythemia caused by mutation in MPL" EXACT [MONDO:design_pattern] +synonym: "MPL essential thrombocythemia" EXACT [MONDO:design_pattern] synonym: "THCYT2" RELATED [MONDO:Lexical, OMIM:601977] synonym: "thrombocythemia 2" EXACT [MONDO:Lexical, OMIM:601977] synonym: "thrombocythemia 2; THCYT2" RELATED [OMIM:601977] @@ -216521,7 +218697,7 @@ xref: MESH:C566594 {source="MONDO:equivalentTo"} xref: OMIM:601992 {source="MONDO:equivalentTo"} xref: Orphanet:95 {source="OMIM:601992", source="MONDO:subClassOf"} xref: UMLS:C1865981 {source="OMIM:601992", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0009245 {source="ORDO:95/btnt"} ! Friedreich ataxia +is_a: MONDO:0009245 {source="MESH:C566594", source="ORDO:95/btnt"} ! Friedreich ataxia property_value: confidence "1.7529411764705887" xsd:double [Term] @@ -216543,7 +218719,9 @@ synonym: "hypomagnesemic tetany" EXACT [DOID:0060883, OMIM:602014] synonym: "intestinal hypomagnesemia type 1" EXACT [DOID:0060883, MONDORULE:1] synonym: "intestinal hypomagnesemia with secondary hypocalcemia" EXACT [DOID:0060883, Orphanet:30924] synonym: "PHSH" EXACT [Orphanet:30924] +synonym: "primary hypomagnesemia caused by mutation in TRPM6" EXACT [MONDO:design_pattern] synonym: "primary hypomagnesemia with secondary hypocalcemia" EXACT [DOID:0060883] +synonym: "TRPM6 primary hypomagnesemia" EXACT [MONDO:design_pattern] xref: DOID:0060883 {source="MONDO:equivalentTo"} xref: GARD:0013072 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:E83.4 {source="Orphanet:30924", source="ORDO:30924/attributed", source="DOID:0060883", source="ORDO:30924/ntbt"} @@ -216554,7 +218732,7 @@ xref: SCTID:190856003 {source="MONDO:kboom-pr-0.91/0.75/0.91", source="MONDO:equ xref: UMLS:C0269941 {source="OMIM:602014"} xref: UMLS:C1865974 {source="OMIM:602014", source="NCBI:mim2gene_medline", source="Orphanet:30924", source="MONDO:equivalentTo"} is_a: MONDO:0017626 {source="Orphanet:30924"} ! familial primary hypomagnesemia with normocalcuria -is_a: MONDO:0018100 {source="MONDO:Redundant", source="OMIM:602014", source="Orphanet:30924/inferred"} ! primary hypomagnesemia +is_a: MONDO:0018100 {source="DOID:0060883", source="MONDO:Redundant", source="OMIM:602014", source="Orphanet:30924/inferred"} ! primary hypomagnesemia intersection_of: MONDO:0018100 ! primary hypomagnesemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17995 ! TRPM6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17995 {source="mim2gene_medgen"} ! TRPM6 @@ -216569,7 +218747,9 @@ synonym: "ECTD4" RELATED [MONDO:Lexical, OMIM:602032] synonym: "ectodermal dysplasia 4, hair/nail type" EXACT [MONDO:Lexical, OMIM:602032] synonym: "ectodermal dysplasia 4, hair/nail type; ECTD4" RELATED [OMIM:602032] synonym: "ectodermal dysplasia, 'Pure' hair/nail type" RELATED [OMIM:602032] +synonym: "KRT85 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern] synonym: "pili torti onychodysplasia" RELATED [GARD:0004364] +synonym: "pure hair and nail ectodermal dysplasia caused by mutation in KRT85" EXACT [MONDO:design_pattern] synonym: "twisted hair with nail dysplasias" RELATED [GARD:0004364] xref: GARD:0004364 {source="MONDO:equivalentTo"} xref: MESH:C566592 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -216608,7 +218788,7 @@ xref: Orphanet:31709 {source="OMIM:602066", source="MONDO:equivalentTo"} xref: SCTID:715534008 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C1865926 {source="Orphanet:31709", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="NCIT:C126650", source="OMIM:602066", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0011178", source="NCIT:C126650"} ! syndromic disease -is_a: MONDO:0015427 {source="Orphanet:31709", source="linkedlifedata"} ! paroxysmal dyskinesia +is_a: MONDO:0015427 {source="Orphanet:31709", source="linkedlifedata", source="linkedlifedata/inferred"} ! paroxysmal dyskinesia is_a: MONDO:0015642 {source="Orphanet:31709"} ! benign partial infantile seizures property_value: confidence "3.666666666666667" xsd:double @@ -216634,11 +218814,13 @@ id: MONDO:0011181 name: fibrosis of extraocular muscles, congenital, 2 def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the PHOX2A gene." [MONDO:patterns/disease_series_by_gene] synonym: "CFEOM2" RELATED [MONDO:Lexical, OMIM:602078] +synonym: "congenital fibrosis of extraocular muscles caused by mutation in PHOX2A" EXACT [MONDO:design_pattern] synonym: "Feom2 locus" RELATED [OMIM:602078] synonym: "fibrosis of extraocular muscles, congenital, 2" EXACT [MONDO:Lexical, OMIM:602078] synonym: "fibrosis of extraocular muscles, congenital, 2; CFEOM2" RELATED [OMIM:602078] synonym: "fibrosis of extraocular muscles, congenital, autosomal recessive" RELATED [OMIM:602078] synonym: "fibrosis of extraocular muscles, congenital, type 2" EXACT [MONDORULE:1, OMIM:602078] +synonym: "PHOX2A congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern] xref: MESH:C566587 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:602078 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="MONDO:subClassOf", source="OMIM:602078"} @@ -216750,7 +218932,7 @@ xref: OMIM:602082 {source="GARD:0009275", source="Orphanet:98960", source="ORDO: xref: Orphanet:98960 {source="GARD:0009275", source="OMIM:602082", source="DOID:0060455", source="MONDO:equivalentTo"} xref: SCTID:417065002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:0060455", source="MONDO:equivalentTo"} xref: UMLS:C1562894 {source="NCBI:mim2gene_medline", source="GARD:0009275", source="Orphanet:98960", source="OMIM:602082", source="ORDO:98960/e", source="DOID:0060455", source="MONDO:equivalentTo"} -is_a: MONDO:0000764 {source="DOID:0060455"} ! epithelial-stromal TGFB1 dystrophy +is_a: MONDO:0000764 {source="DOID:0060455"} ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020212 {source="Orphanet:98960"} ! superficial corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11771 {source="mim2gene_medgen"} ! TGFBI property_value: confidence "26.499999999999996" xsd:double @@ -216774,7 +218956,7 @@ xref: Orphanet:231169 {source="OMIM:602083", source="MONDO:subClassOf"} xref: Orphanet:886 {source="OMIM:602083", source="MONDO:subClassOf"} xref: UMLS:C1865885 {source="NCBI:mim2gene_medline", source="OMIM:602083", source="MONDO:equivalentTo"} is_a: MONDO:0010168 {source="DOID:0110832", source="MONDOLEX:0011186"} ! Usher syndrome type 1 -is_a: MONDO:0019501 {source="MONDO:Redundant", source="OMIM:602083"} ! Usher syndrome +is_a: MONDO:0019501 {source="DOID:0110832/inferred", source="MONDO:Redundant", source="OMIM:602083"} ! Usher syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14674 {source="mim2gene_medgen"} ! PCDH15 property_value: confidence "2.4444444444444438" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10043/usher-syndrome-type-1f xsd:anyURI {source="GARD:0010043"} @@ -216812,7 +218994,7 @@ xref: OMIM:602086 {source="DOID:0110072", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:602086"} xref: UMLS:C1865882 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602086"} is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia -is_a: MONDO:0016587 {source="MESH:C566584", source="MONDO:Redundant", source="OMIM:602086"} ! arrhythmogenic right ventricular cardiomyopathy +is_a: MONDO:0016587 {source="DOID:0110072", source="MESH:C566584", source="MONDO:Redundant", source="OMIM:602086"} ! arrhythmogenic right ventricular cardiomyopathy property_value: confidence "0.23456790123456783" xsd:double [Term] @@ -216834,7 +219016,7 @@ xref: OMIM:602087 {source="DOID:0110073", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:602087"} xref: UMLS:C1865881 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602087"} is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia -is_a: MONDO:0016587 {source="MESH:C566583", source="MONDO:Redundant", source="OMIM:602087"} ! arrhythmogenic right ventricular cardiomyopathy +is_a: MONDO:0016587 {source="DOID:0110073", source="MESH:C566583", source="MONDO:Redundant", source="OMIM:602087"} ! arrhythmogenic right ventricular cardiomyopathy property_value: confidence "0.23456790123456783" xsd:double [Term] @@ -216880,12 +219062,14 @@ name: autosomal recessive nonsyndromic deafness 18A def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the USH1C gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "autosomal recessive deafness 18A" EXACT [DOID:0110473] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in USH1C" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 18A" EXACT [DOID:0110473, MONDORULE:4] synonym: "deafness, autosomal recessive 18" RELATED [OMIM:602092] synonym: "deafness, autosomal recessive 18A" RELATED [MONDO:Lexical, OMIM:602092] synonym: "deafness, autosomal recessive 18A; DFNB18A" RELATED [OMIM:602092] synonym: "deafness, autosomal recessive type 18A" EXACT [MONDORULE:4, OMIM:602092] synonym: "DFNB18A" EXACT [DOID:0110473, MONDO:Lexical, OMIM:602092] +synonym: "USH1C autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110473 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110473"} xref: MESH:C566580 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -216903,8 +219087,10 @@ def: "Any cone dystrophy in which the cause of the disease is a mutation in the synonym: "COD3" RELATED [MONDO:Lexical, OMIM:602093] synonym: "cone dystrophy 3" EXACT [MONDO:Lexical, OMIM:602093] synonym: "cone dystrophy 3; COD3" RELATED [OMIM:602093] +synonym: "cone dystrophy caused by mutation in GUCA1A" EXACT [MONDO:design_pattern] synonym: "cone dystrophy type 3" EXACT [MONDORULE:1, OMIM:602093] synonym: "cone-Rod dystrophy 14" RELATED [OMIM:602093] +synonym: "GUCA1A cone dystrophy" EXACT [MONDO:design_pattern] synonym: "retinal cone dystrophy" RELATED [OMIM:602093] xref: OMIM:602093 {source="MONDO:equivalentTo"} xref: Orphanet:1871 {source="MONDO:subClassOf", source="OMIM:602093"} @@ -216954,7 +219140,7 @@ xref: Orphanet:231169 {source="MONDO:subClassOf", source="OMIM:602097"} xref: Orphanet:886 {source="MONDO:subClassOf", source="OMIM:602097"} xref: UMLS:C1865865 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:602097"} is_a: MONDO:0010168 {source="DOID:0110833", source="MONDOLEX:0011195"} ! Usher syndrome type 1 -is_a: MONDO:0019501 {source="MONDO:Redundant", source="OMIM:602097"} ! Usher syndrome +is_a: MONDO:0019501 {source="DOID:0110833/inferred", source="MONDO:Redundant", source="OMIM:602097"} ! Usher syndrome property_value: confidence "2.4444444444444438" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5439/usher-syndrome-type-1e xsd:anyURI {source="GARD:0005439"} @@ -216967,6 +219153,8 @@ synonym: "ALS5" EXACT [DOID:0060197, MONDO:Lexical, OMIM:602099] synonym: "amyotrophic lateral sclerosis 5" EXACT [DOID:0060197, OMIM:602099] synonym: "amyotrophic lateral sclerosis 5, juvenile" RELATED [MONDO:Lexical, OMIM:602099] synonym: "amyotrophic lateral sclerosis 5, juvenile; ALS5" RELATED [OMIM:602099] +synonym: "amyotrophic lateral sclerosis caused by mutation in SPG11" EXACT [MONDO:design_pattern] +synonym: "SPG11 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0060197 {source="MONDO:equivalentTo"} xref: GARD:0010503 {source="MONDO:equivalentTo"} xref: MESH:C566576 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -217056,7 +219244,7 @@ xref: OMIM:602124 {source="DOID:0090040", source="MONDO:equivalentTo"} xref: UMLS:C1865818 {source="OMIM:602124", source="NCBI:mim2gene_medline"} xref: UMLS:C1865819 {source="OMIM:602124"} is_a: MONDO:0000477 {source="DOID:0090040"} ! focal dystonia -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:602124"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090040/inferred", source="MONDO:Redundant", source="OMIM:602124"} ! dystonic disorder is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -217072,7 +219260,7 @@ xref: OMIM:602134 {source="MONDO:equivalentTo"} xref: Orphanet:862 {source="OMIM:602134"} xref: UMLS:C1865810 {source="NCBI:mim2gene_medline", source="OMIM:602134"} is_a: MONDO:0003233 {source="DC-OMIM:602134", source="OMIM:602134"} ! essential tremor -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C536546/inferred"} ! inherited genetic disease [Term] id: MONDO:0011202 @@ -217184,7 +219372,7 @@ xref: UMLS:C0221011 {source="NCBI:mim2gene_medline", source="OMIM:602248", sourc is_a: MONDO:0015938 {source="Orphanet:679"} ! systemic disease is_a: MONDO:0015948 {source="Orphanet:679"} ! rare genetic skin vascular disorder is_a: MONDO:0017133 {source="MONDO:Entailed", source="Orphanet:679"} ! genetic systemic or rheumatologic disease -is_a: MONDO:0019293 {source="Orphanet:679"} ! skin vascular disease +is_a: MONDO:0019293 {source="MESH:D054853", source="Orphanet:679"} ! skin vascular disease property_value: confidence "4.277777777777778" xsd:double [Term] @@ -217265,12 +219453,14 @@ name: progressive familial intrahepatic cholestasis type 3 def: "Progressive familial intrahepatic cholestasis type 3 (PFIC3), a type of progressive familial intrahepatic cholestasis (PFIC, see this term), is a late-onset hereditary disorder in bile formation that is hepatocellular in origin. Onset may occur from infancy to young adulthood." [Orphanet:79305] subset: gard_rare {source="GARD:0001289"} subset: ordo_clinical_subtype {source="Orphanet:79305"} +synonym: "ABCB4 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern] synonym: "cholestasis, progressive familial intrahepatic, 3" RELATED [MONDO:Lexical, OMIM:602347] synonym: "cholestasis, progressive familial intrahepatic, 3; PFIC3" RELATED [OMIM:602347] synonym: "cholestasis, progressive familial intrahepatic, type 3" EXACT [MONDORULE:1, OMIM:602347] synonym: "cholestasis, progressive familial intrahepatic, with elevated serum gamma-glutamyltransferase" RELATED [OMIM:602347] synonym: "Mdr3 deficiency" RELATED [OMIM:602347] synonym: "PFIC3" EXACT [MONDO:Lexical, OMIM:602347, Orphanet:79305] +synonym: "progressive familial intrahepatic cholestasis caused by mutation in ABCB4" EXACT [MONDO:design_pattern] synonym: "progressive familial intrahepatic cholestasis with elevated serum gamma-glutamyltransferase" RELATED [GARD:0001289] xref: GARD:0001289 {source="MONDO:equivalentTo"} xref: ICD10:K76.8 {source="ORDO:79305/attributed", source="Orphanet:79305", source="ORDO:79305/ntbt"} @@ -217315,17 +219505,19 @@ property_value: confidence "7.125" xsd:double id: MONDO:0011216 name: hemochromatosis type 2A def: "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HJV gene." [MONDO:patterns/disease_series_by_gene] +synonym: "hemochromatosis type 2 caused by mutation in HJV" EXACT [MONDO:design_pattern] synonym: "hemochromatosis, juvenile" RELATED [OMIM:602390] synonym: "hemochromatosis, type 2" RELATED [OMIM:602390] synonym: "hemochromatosis, type 2A" RELATED [MONDO:Lexical, OMIM:602390] synonym: "hemochromatosis, type 2A; HFE2A" RELATED [OMIM:602390] synonym: "HFE2A" EXACT [DOID:0111027, MONDO:Lexical, OMIM:602390] +synonym: "HJV hemochromatosis type 2" EXACT [MONDO:design_pattern] xref: DOID:0111027 {source="MONDO:equivalentTo"} xref: OMIM:602390 {source="DOID:0111027", source="MONDO:equivalentTo"} xref: Orphanet:79230 {source="MONDO:subClassOf", source="OMIM:602390"} xref: UMLS:C0268060 {source="OMIM:602390"} xref: UMLS:C1865614 {source="NCBI:mim2gene_medline", source="OMIM:602390"} -is_a: MONDO:0006507 {source="MONDO:Redundant", source="OMIM:602390"} ! hereditary hemochromatosis +is_a: MONDO:0006507 {source="DOID:0111027/inferred", source="MONDO:Redundant", source="OMIM:602390"} ! hereditary hemochromatosis is_a: MONDO:0019257 {source="DOID:0111027", source="MONDO:Entailed", source="MONDOLEX:0011216"} ! hemochromatosis type 2 intersection_of: MONDO:0019257 ! hemochromatosis type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4887 ! HJV @@ -217399,7 +219591,7 @@ xref: SCTID:239020008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0406715 {source="ORDO:99672/e", source="Orphanet:99672", source="MONDO:equivalentTo"} xref: UMLS:C1865594 {source="NCBI:mim2gene_medline"} xref: UMLS:C3551424 {source="OMIM:602401"} -is_a: MONDO:0019287 {source="MONDOLEX:0011219", source="OMIM:602401", source="Orphanet:99672", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MONDOLEX:0011219", source="OMIM:602401", source="Orphanet:99672", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome property_value: confidence "8.333333333333334" xsd:double [Term] @@ -217443,7 +219635,8 @@ xref: MESH:C566551 {source="MONDO:equivalentTo"} xref: OMIM:602429 {source="MONDO:equivalentTo"} xref: UMLS:C1865427 {source="NCBI:mim2gene_medline", source="OMIM:602429", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="MONDO:Redundant"} ! inherited genetic disease -is_a: MONDO:0005338 ! open-angle glaucoma +is_a: MONDO:0005338 {source="MESH:C566551"} ! open-angle glaucoma +is_a: MONDO:0020366 ! congenital glaucoma property_value: confidence "0.6519518666964457" xsd:double [Term] @@ -217458,10 +219651,12 @@ synonym: "ALS4" RELATED [MONDO:Lexical, OMIM:602433] synonym: "amyotrophic lateral sclerosis 4" EXACT [DOID:0060196, OMIM:602433] synonym: "amyotrophic lateral sclerosis 4, juvenile" EXACT [DOID:0060196, MONDO:Lexical, OMIM:602433] synonym: "amyotrophic lateral sclerosis 4, juvenile; ALS4" RELATED [OMIM:602433] +synonym: "amyotrophic lateral sclerosis caused by mutation in SETX" EXACT [MONDO:design_pattern] synonym: "dHMN with upper motor neuron signs" EXACT [DOID:0060196, ORDO:357043, Orphanet:357043] synonym: "distal hereditary motor neuropathy with pyramidal features" EXACT [DOID:0060196, OMIM:602433] synonym: "distal hereditary motor neuropathy with upper motor neuron signs" EXACT [DOID:0060196, ORDO:357043, Orphanet:357043] synonym: "neuronopathy, distal hereditary motor, with pyramidal features" RELATED [OMIM:602433] +synonym: "SETX amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0060196 {source="MONDO:equivalentTo"} xref: GARD:0010502 {source="MONDO:equivalentTo"} xref: ICD10:G12.2 {source="Orphanet:357043", source="ORDO:357043/ntbt", source="DOID:0060196", source="MONDO:subClassOf", source="ORDO:357043/attributed"} @@ -217541,7 +219736,7 @@ xref: UMLS:C1865370 {source="NCBI:mim2gene_medline", source="OMIM:602450"} xref: UMLS:C1865371 {source="OMIM:602450"} xref: UMLS:C1865372 {source="Orphanet:275", source="OMIM:602450"} xref: UMLS:C1865373 {source="OMIM:602450"} -is_a: MONDO:0015974 {source="DC-OMIM:602450", source="DOID:0090012", source="MONDO:Redundant", source="Orphanet:275/inferred", source="linkedlifedata"} ! severe combined immunodeficiency (disease) +is_a: MONDO:0015974 {source="DC-OMIM:602450", source="DOID:0060006", source="DOID:0090012", source="MONDO:Redundant", source="Orphanet:275/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! severe combined immunodeficiency (disease) is_a: MONDO:0017855 {source="Orphanet:275"} ! T-B- severe combined immunodeficiency intersection_of: MONDO:0015974 ! severe combined immunodeficiency (disease) intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17642 ! DCLRE1C @@ -217554,11 +219749,13 @@ id: MONDO:0011226 name: autosomal dominant nonsyndromic deafness 15 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the POU4F3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 15" EXACT [DOID:0110546] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in POU4F3" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 15" EXACT [DOID:0110546, MONDORULE:2] synonym: "deafness, autosomal dominant 15" RELATED [MONDO:Lexical, OMIM:602459] synonym: "deafness, autosomal dominant 15; DFNA15" RELATED [OMIM:602459] synonym: "deafness, autosomal dominant type 15" EXACT [MONDORULE:2, OMIM:602459] synonym: "DFNA15" EXACT [DOID:0110546, MONDO:Lexical, OMIM:602459] +synonym: "POU4F3 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110546 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110546"} xref: MESH:C566545 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -217642,7 +219839,7 @@ xref: OMIM:602475 {source="EFO:0005895", source="DOID:0060887", source="MONDO:eq xref: SCTID:90448008 {source="EFO:0005895", source="MONDO:equivalentTo"} xref: UMLS:C1865343 {source="NCBI:mim2gene_medline", source="OMIM:602475", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0003900 {source="DOID:0060887"} ! connective tissue disease +is_a: MONDO:0003900 {source="DOID:0060887", source="linkedlifedata/inferred"} ! connective tissue disease is_a: MONDO:0005172 {source="EFO:0005895"} ! skeletal system disease [Term] @@ -217662,7 +219859,9 @@ is_a: MONDO:0003847 {source="MONDO:Redundant"} ! inherited genetic disease id: MONDO:0011232 name: migraine, familial hemiplegic, 2 def: "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the ATP1A2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ATP1A2 familial or sporadic hemiplegic migraine" EXACT [MONDO:design_pattern] synonym: "familial hemiplegic migraine type 2" RELATED [GARD:0010095] +synonym: "familial or sporadic hemiplegic migraine caused by mutation in ATP1A2" EXACT [MONDO:design_pattern] synonym: "FHM2" RELATED [MONDO:Lexical, OMIM:602481] synonym: "hemiplegic migraine, familial type 2" RELATED [GARD:0010095] synonym: "Mhp2" RELATED [OMIM:602481] @@ -217694,8 +219893,10 @@ synonym: "Axenfeld-Rieger Anomaly" RELATED [OMIM:602482] synonym: "Axenfeld-Rieger Anomaly with Cardiac defects and/Or sensorineural hearing loss" RELATED [OMIM:602482] synonym: "Axenfeld-Rieger Anomaly with or without Cardiac defects and/or sensorineural hearing loss" RELATED [OMIM:602482] synonym: "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss" EXACT [DOID:0110122] +synonym: "Axenfeld-Rieger syndrome caused by mutation in FOXC1" EXACT [MONDO:design_pattern] synonym: "Axenfeld-Rieger syndrome, type 3" RELATED [MONDO:Lexical, OMIM:602482] synonym: "Axenfeld-Rieger syndrome, type 3; RIEG3" RELATED [OMIM:602482] +synonym: "FOXC1 Axenfeld-Rieger syndrome" EXACT [MONDO:design_pattern] synonym: "RIEG3" EXACT [DOID:0110122, MONDO:Lexical, OMIM:602482] synonym: "Rieger Anomaly" RELATED [OMIM:602482] synonym: "Rieger syndrome type 3" EXACT [DOID:0110122] @@ -217724,7 +219925,9 @@ def: "Any auriculocondylar syndrome in which the cause of the disease is a mutat synonym: "ARCND1" RELATED [MONDO:Lexical, OMIM:602483] synonym: "Auriculocondylar syndrome 1" EXACT [MONDO:Lexical, OMIM:602483] synonym: "AURICULOCONDYLAR syndrome 1; ARCND1" RELATED [OMIM:602483] +synonym: "auriculocondylar syndrome caused by mutation in GNAI3" EXACT [MONDO:design_pattern] synonym: "Auriculocondylar syndrome type 1" EXACT [MONDORULE:1, OMIM:602483] +synonym: "GNAI3 auriculocondylar syndrome" EXACT [MONDO:design_pattern] synonym: "question Mark ears syndrome" RELATED [OMIM:602483] xref: OMIM:602483 {source="MONDO:equivalentTo"} xref: Orphanet:137888 {source="MONDO:subClassOf", source="OMIM:602483"} @@ -217785,10 +219988,12 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9930/hyperins id: MONDO:0011237 name: hyperlipidemia, combined, 1 def: "Any familial combined hyperlipidemia in which the cause of the disease is a mutation in the USF1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial combined hyperlipidemia caused by mutation in USF1" EXACT [MONDO:design_pattern] synonym: "hyperlipidemia, combined, 1" EXACT [OMIM:602491] synonym: "hyperlipidemia, combined, type 1" EXACT [MONDORULE:1, OMIM:602491] synonym: "hyperlipidemia, familial combined, 1" RELATED [OMIM:602491] synonym: "Hyplip1" RELATED [OMIM:602491] +synonym: "USF1 familial combined hyperlipidemia" EXACT [MONDO:design_pattern] xref: MESH:C566535 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:602491 {source="MONDO:equivalentTo"} xref: UMLS:C1865289 {source="NCBI:mim2gene_medline", source="OMIM:602491", source="MONDO:equivalentTo"} @@ -217857,7 +220062,7 @@ xref: UMLS:C1865285 {source="NCBI:mim2gene_medline", source="Orphanet:60040", so is_a: MONDO:0015945 {source="Orphanet:60040"} ! polymalformative genetic syndrome with increased risk of developing cancer is_a: MONDO:0015948 {source="Orphanet:60040"} ! rare genetic skin vascular disorder is_a: MONDO:0018719 {source="Orphanet:60040"} ! rare capillary malformation with associated anomalies -is_a: MONDO:0019293 {source="Orphanet:60040"} ! skin vascular disease +is_a: MONDO:0019293 {source="MESH:C536142", source="Orphanet:60040"} ! skin vascular disease is_a: MONDO:0019716 {source="Orphanet:60040"} ! overgrowth syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8975 {source="mim2gene_medgen"} ! PIK3CA property_value: confidence "8.375" xsd:double @@ -217876,6 +220081,7 @@ id: MONDO:0011242 name: Bartter disease type 4a def: "Any Bartter syndrome in which the cause of the disease is a mutation in the BSND gene." [MONDO:patterns/disease_series_by_gene] synonym: "BARTS4A" EXACT [DOID:0110145] +synonym: "Bartter syndrome caused by mutation in BSND" EXACT [MONDO:design_pattern] synonym: "Bartter syndrome type 4a" EXACT [DOID:0110145] synonym: "Bartter syndrome, infantile, with sensorineural deafness" RELATED [OMIM:602522] synonym: "Bartter syndrome, neonatal, with sensorineural deafness" RELATED [OMIM:602522] @@ -217883,6 +220089,7 @@ synonym: "Bartter syndrome, type 4A" RELATED [OMIM:602522] synonym: "Bartter syndrome, type 4A, neonatal, with sensorineural deafness" RELATED [OMIM:602522] synonym: "Bartter syndrome, type 4A, neonatal, with sensorineural deafness; BARTS4A" RELATED [OMIM:602522] synonym: "BSND" EXACT [DOID:0110145] +synonym: "BSND Bartter syndrome" EXACT [MONDO:design_pattern] synonym: "neonatal Bartter syndrome with sensorineural deafness" EXACT [DOID:0110145] synonym: "sensorineural deafness with mild renal dysfunction" RELATED [OMIM:602522] xref: DOID:0110145 {source="MONDO:equivalentTo"} @@ -217893,7 +220100,7 @@ xref: Orphanet:89938 {source="OMIM:602522", source="MONDO:subClassOf"} xref: SCTID:717791000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1865270 {source="OMIM:602522", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C2748440 {source="OMIM:602522"} -is_a: MONDO:0015231 {source="MONDO:0011242/inferred", source="MONDO:Redundant", source="MONDOLEX:0011242/inferred", source="OMIM:602522", source="linkedlifedata"} ! Bartter syndrome +is_a: MONDO:0015231 {source="DOID:0110145", source="MONDO:0011242/inferred", source="MONDO:Redundant", source="MONDOLEX:0011242/inferred", source="OMIM:602522", source="linkedlifedata", source="linkedlifedata/inferred"} ! Bartter syndrome is_a: MONDO:0019524 {source="MONDOLEX:0011242", source="Orphanet:xref", source="linkedlifedata"} ! infantile Bartter syndrome with sensorineural deafness intersection_of: MONDO:0015231 ! Bartter syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16512 ! BSND @@ -218190,7 +220397,9 @@ synonym: "BOS1" RELATED [MONDO:Lexical, OMIM:602588] synonym: "branchiootic dysplasia" RELATED [OMIM:602588] synonym: "branchiootic syndrome 1" EXACT [MONDO:Lexical, OMIM:602588] synonym: "branchiootic syndrome 1; BOS1" RELATED [OMIM:602588] +synonym: "branchiootic syndrome caused by mutation in EYA1" EXACT [MONDO:design_pattern] synonym: "branchiootic syndrome type 1" EXACT [MONDORULE:1, OMIM:602588] +synonym: "EYA1 branchiootic syndrome" EXACT [MONDO:design_pattern] xref: OMIM:602588 {source="MONDO:equivalentTo"} xref: Orphanet:52429 {source="OMIM:602588", source="MONDO:subClassOf"} xref: UMLS:C1865143 {source="OMIM:602588", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -218291,8 +220500,10 @@ synonym: "dystonia 6, torsion; DYT6" RELATED [OMIM:602629] synonym: "DYT-THAP1" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/, MONDO:cjm] synonym: "DYT6" EXACT [MONDO:Lexical, OMIM:602629, Orphanet:98806] synonym: "generalized cervical and upper-limb-onset dystonia" EXACT [Orphanet:98806] +synonym: "generalized isolated dystonia caused by mutation in THAP1" EXACT [MONDO:design_pattern] synonym: "idiopathic torsion dystonia of mixed type" EXACT [Orphanet:98806] synonym: "primary dystonia, DYT6 type" RELATED [Orphanet:98806] +synonym: "THAP1 generalized isolated dystonia" EXACT [MONDO:design_pattern] synonym: "torsion dystonia adult onset mixed type" RELATED [GARD:0009630] synonym: "torsion dystonia type 6" EXACT [DOID:0090039, MONDORULE:1] synonym: "torsion Dystonia, adult-onset, mixed type" RELATED [OMIM:602629] @@ -218304,7 +220515,7 @@ xref: OMIM:602629 {source="ORDO:98806/e", source="DOID:0090039", source="Orphane xref: Orphanet:98806 {source="OMIM:602629", source="DOID:0090039", source="MONDO:equivalentTo"} xref: SCTID:702448007 {source="MONDO:kboom-pr-1.00/0.80/8.71", source="MONDO:equivalentTo"} xref: UMLS:C1414216 {source="NCBI:mim2gene_medline", source="OMIM:602629", source="MEDGEN:kboom-pr97-c99", source="Orphanet:98806", source="MONDO:equivalentTo"} -is_a: MONDO:0003441 {source="MESH:C538003/inferred", source="MONDO:Redundant", source="OMIM:602629", source="linkedlifedata"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090039/inferred", source="MESH:C538003/inferred", source="MONDO:Redundant", source="OMIM:602629", source="linkedlifedata", source="linkedlifedata/inferred"} ! dystonic disorder is_a: MONDO:0018303 {source="Orphanet:98806"} ! generalized isolated dystonia intersection_of: MONDO:0018303 ! generalized isolated dystonia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20856 ! THAP1 @@ -218331,11 +220542,13 @@ name: myotonic dystrophy type 2 def: "Myotonic dystrophy type 2 (MD2), also known as proximal myotonic myopathy, is a very rare genetic multi-system disorder of late childhood or adult-onset characterized by mild myotonia, muscle weakness, and rarely cardiac conduction disorders." [Orphanet:606] subset: gard_rare {source="GARD:0009728"} subset: ordo_disease {source="Orphanet:606"} +synonym: "CNBP myotonic dystrophy" EXACT [MONDO:design_pattern] synonym: "DM2" RELATED [MONDO:Lexical, OMIM:602668] synonym: "dystrophia myotonica 2" RELATED [OMIM:602668] synonym: "dystrophia myotonica type 2" RELATED [GARD:0009728] synonym: "myotonic dystrophy 2" RELATED [MONDO:Lexical, OMIM:602668] synonym: "myotonic dystrophy 2; DM2" RELATED [OMIM:602668] +synonym: "myotonic dystrophy caused by mutation in CNBP" EXACT [MONDO:design_pattern] synonym: "myotonic dystrophy type 2" EXACT [MONDORULE:1, OMIM:602668, Orphanet:606] synonym: "myotonic Myopathy, proximal" RELATED [OMIM:602668] synonym: "PROMM" RELATED [GARD:0009728] @@ -218367,7 +220580,7 @@ xref: UMLS:C0752354 {source="NCBI:mim2gene_medline", source="Orphanet:606", sour xref: UMLS:C0752355 {source="DOID:0050759", source="MONDO:relatedTo"} xref: UMLS:C2931689 {source="OMIM:602668", source="Orphanet:606", source="NCIT:C84680"} is_a: MONDO:0015906 {source="Orphanet:606"} ! rare disorder with hypergonadotropic hypogonadism -is_a: MONDO:0016107 {source="DC-OMIM:602668", source="NCIT:C84680", source="OMIM:602668", source="Orphanet:606"} ! myotonic dystrophy +is_a: MONDO:0016107 {source="DC-OMIM:602668", source="DOID:0050759", source="NCIT:C84680", source="OMIM:602668", source="Orphanet:606"} ! myotonic dystrophy is_a: MONDO:0020169 {source="Orphanet:606"} ! rare disorder with ptosis intersection_of: MONDO:0016107 ! myotonic dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13164 ! CNBP @@ -218411,8 +220624,10 @@ property_value: confidence "1.2222222222222223" xsd:double id: MONDO:0011269 name: psoriasis 2 def: "Any psoriasis in which the cause of the disease is a mutation in the CARD14 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CARD14 psoriasis" EXACT [MONDO:design_pattern] synonym: "psoriasis 2" EXACT [MONDO:Lexical, OMIM:602723] synonym: "psoriasis 2; PSORS2" RELATED [OMIM:602723] +synonym: "psoriasis caused by mutation in CARD14" EXACT [MONDO:design_pattern] synonym: "psoriasis type 2" EXACT [MONDORULE:1, OMIM:602723] synonym: "PSORS2" RELATED [MONDO:Lexical, OMIM:602723] xref: OMIM:602723 {source="MONDO:equivalentTo"} @@ -218463,8 +220678,10 @@ synonym: "rigid spine muscular dystrophy 1; RSMD1" RELATED [OMIM:602771] synonym: "rigid spine muscular dystrophy type 1" EXACT [DOID:0110633, MONDORULE:1, OMIM:602771] synonym: "rigid spine syndrome" EXACT [DOID:0110633] synonym: "rigid spine syndrome" RELATED [OMIM:602771] +synonym: "rigid spine syndrome caused by mutation in SELENON" EXACT [MONDO:design_pattern] synonym: "RSMD1" EXACT [DOID:0110633, MONDO:Lexical, OMIM:602771] synonym: "RSS" EXACT [DOID:0110633] +synonym: "SELENON rigid spine syndrome" EXACT [MONDO:design_pattern] synonym: "SEPN1-related myopathy" EXACT [DOID:0110633] synonym: "severe classic form minicore myopathy" EXACT [DOID:0110633] synonym: "severe classic form multicore myopathy" EXACT [DOID:0110633] @@ -218482,9 +220699,9 @@ xref: Orphanet:97244 {source="DOID:0110633", source="MONDO:subClassOf", source=" xref: SCTID:240063002 {source="MONDO:equivalentTo"} xref: UMLS:C0410180 {source="NCBI:mim2gene_medline", source="OMIM:602771", source="MONDO:equivalentTo", source="NCIT:C126691"} is_a: MONDO:0018948 {source="ORDO:598/btnt"} ! multiminicore myopathy -is_a: MONDO:0019950 {source="DOID:0110633", source="MONDO:0011271/inferred", source="MONDO:Redundant", source="MONDOLEX:0011271/inferred"} ! congenital muscular dystrophy +is_a: MONDO:0019950 {source="DOID:0110633", source="MONDO:0011271/inferred", source="MONDO:Redundant", source="MONDOLEX:0011271/inferred", source="linkedlifedata"} ! congenital muscular dystrophy is_a: MONDO:0019951 {source="MONDOLEX:0011271"} ! rigid spine syndrome -is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C126691"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:0110633/inferred", source="MONDO:Redundant", source="NCIT:C126691", source="linkedlifedata/inferred"} ! muscular dystrophy intersection_of: MONDO:0019951 ! rigid spine syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15999 ! SELENON relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15999 {source="mim2gene_medgen"} ! SELENON @@ -218495,8 +220712,10 @@ id: MONDO:0011272 name: retinitis pigmentosa 25 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the EYS gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010384"} +synonym: "EYS retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 25" EXACT [MONDO:Lexical, OMIM:602772] synonym: "retinitis pigmentosa 25; RP25" RELATED [OMIM:602772] +synonym: "retinitis pigmentosa caused by mutation in EYS" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 25" EXACT [DOID:0110384, MONDORULE:2, OMIM:602772] synonym: "RP 25" RELATED [GARD:0010384] synonym: "RP25" EXACT [DOID:0110384, MONDO:Lexical, OMIM:602772] @@ -218601,7 +220820,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/507/acromesom [Term] id: MONDO:0011276 name: OFC2 -synonym: "cleft 51P with or without cleft palate, nonsyndromic, 2" RELATED [OMIM:602966] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 2" RELATED [OMIM:602966] synonym: "OFC2" EXACT [MONDO:Lexical, OMIM:602966] synonym: "orofacial cleft 2" RELATED [MONDO:Lexical, OMIM:602966] synonym: "orofacial cleft 2; OFC2" RELATED [OMIM:602966] @@ -218610,18 +220829,15 @@ xref: OMIM:602966 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:602966", source="MONDO:subClassOf"} xref: UMLS:C1864323 {source="NCBI:mim2gene_medline", source="OMIM:602966", source="MONDO:equivalentTo"} is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:602966"} ! orofacial cleft -is_a: MONDO:0015420 ! cleft lip and alveolus -is_a: MONDO:0016043 ! isolated cleft lip -is_a: MONDO:0016044 ! cleft lip/palate property_value: confidence "1.7876687750502525" xsd:double [Term] id: MONDO:0011277 -name: Leukoregulin +name: obsolete leukoregulin synonym: "Leukoregulin" EXACT [OMIM:602994] -xref: OMIM:602994 {source="MONDO:equivalentTo"} +xref: OMIM:602994 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C1864303 {source="OMIM:602994", source="NCBI:mim2gene_medline"} -is_a: MONDO:0003847 ! inherited genetic disease +is_obsolete: true [Term] id: MONDO:0011278 @@ -218676,6 +220892,8 @@ synonym: "Cms Ic" RELATED [OMIM:603034] synonym: "Cms Ic, formerly" RELATED [OMIM:603034] synonym: "CMS5" EXACT [DOID:0110667] synonym: "CMS5" RELATED [MONDO:Lexical, OMIM:603034] +synonym: "COLQ congenital myasthenic syndrome" EXACT [MONDO:design_pattern] +synonym: "congenital myasthenic syndrome caused by mutation in COLQ" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome Engel type" EXACT [DOID:0110667] synonym: "congenital myasthenic syndrome type 5" EXACT [DOID:0110667, MONDORULE:1] synonym: "congenital myasthenic syndrome type Ic" EXACT [DOID:0110667] @@ -218696,7 +220914,7 @@ xref: OMIM:603034 {source="DOID:0110667", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:603034", source="MONDO:subClassOf"} xref: Orphanet:98915 {source="OMIM:603034", source="MONDO:subClassOf"} xref: UMLS:C1864233 {source="NCBI:mim2gene_medline", source="NCIT:C129304", source="OMIM:603034", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MESH:C566415", source="MONDO:Redundant", source="NCIT:C129304", source="OMIM:603034"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110667", source="MESH:C566415", source="MONDO:Redundant", source="NCIT:C129304", source="OMIM:603034"} ! congenital myasthenic syndrome is_a: MONDO:0020346 {source="ORDO:98915/btnt"} ! synaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2226 ! COLQ @@ -218849,6 +221067,7 @@ id: MONDO:0011291 name: congenital disorder of glycosylation type 1C def: "(1p31.3)." [Orphanet:79320] subset: ordo_disease {source="Orphanet:79320"} +synonym: "ALG6 congenital disorder of glycosylation" EXACT [MONDO:design_pattern] synonym: "ALG6-CDG" RELATED [Orphanet:79320] synonym: "ALG6-CDG (CDG-Ic)" RELATED [GARD:0009829] synonym: "carbohydrate deficient glycoprotein syndrome type Ic" EXACT [Orphanet:79320] @@ -218866,6 +221085,7 @@ synonym: "CDG-Ic" EXACT [Orphanet:79320] synonym: "CDG1C" EXACT [MONDO:Lexical, OMIM:603147, Orphanet:79320] synonym: "CDGIc" EXACT [NCIT:C126869] synonym: "CDGS5 (formerly)" RELATED [GARD:0009829] +synonym: "congenital disorder of glycosylation caused by mutation in ALG6" EXACT [MONDO:design_pattern] synonym: "congenital disorder of glycosylation type 1c" EXACT [Orphanet:79320] synonym: "congenital disorder of glycosylation type Ic" EXACT [Orphanet:79320] synonym: "congenital disorder of glycosylation, type Ic" RELATED [MONDO:Lexical, OMIM:603147] @@ -218881,7 +221101,7 @@ xref: SCTID:709412006 {source="MONDO:equivalentTo"} xref: UMLS:C1864178 {source="NCBI:mim2gene_medline"} xref: UMLS:C2930997 {source="Orphanet:79320", source="NCIT:C126869", source="OMIM:603147", source="MONDO:equivalentTo"} is_a: MONDO:0005500 {source="DC-OMIM:603147", source="MONDOLEX:0011291"} ! congenital disorder of glycosylation type I -is_a: MONDO:0015286 {source="MESH:C535741", source="MONDO:0011291/inferred", source="MONDO:Redundant", source="MONDOLEX:0011291/inferred", source="OMIM:603147", source="Orphanet:79320/inferred"} ! congenital disorder of glycosylation +is_a: MONDO:0015286 {source="MESH:C535741", source="MONDO:0011291/inferred", source="MONDO:Redundant", source="MONDOLEX:0011291/inferred", source="NCIT:C126869", source="OMIM:603147", source="Orphanet:79320/inferred", source="linkedlifedata/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79320"} ! disorder of protein N-glycosylation is_a: MONDO:0018287 {source="Orphanet:79320"} ! congenital disorder of glycosylation with epilepsy as a major feature is_a: MONDO:0018291 {source="Orphanet:79320"} ! congenital disorder of glycosylation with intestinal involvement @@ -218953,12 +221173,14 @@ name: Meckel syndrome, type 2 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM216 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0008743"} synonym: "Meckel syndrome 2" RELATED [DOID:0070116] +synonym: "Meckel syndrome caused by mutation in TMEM216" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome type 2" RELATED [GARD:0008743] synonym: "Meckel syndrome, type 2" EXACT [MONDO:Lexical, OMIM:603194] synonym: "MECKEL syndrome, type 2; MKS2" RELATED [OMIM:603194] synonym: "Meckel-Gruber syndrome, type 2" EXACT [DOID:0070116] synonym: "Meckel-Gruber syndrome, type 2" RELATED [OMIM:603194] synonym: "MKS2" EXACT [DOID:0070116, MONDO:Lexical, OMIM:603194] +synonym: "TMEM216 Meckel syndrome" EXACT [MONDO:design_pattern] xref: DOID:0070116 {source="MONDO:equivalentTo"} xref: GARD:0008743 {source="MONDO:equivalentTo"} xref: ICD10:Q61.9 {source="DOID:0070116"} @@ -219022,7 +221244,9 @@ synonym: "Huntington's disease-like 1" RELATED [DOID:0090103] synonym: "Huntington-Like neurodegenerative disorder 1" RELATED [OMIM:603218] synonym: "Huntington-like neurodegenerative disorder 1" EXACT [DOID:0090103] synonym: "Huntington-Like neurodegenerative disorder, autosomal dominant" RELATED [OMIM:603218] +synonym: "neurodegenerative disease with chorea caused by mutation in PRNP" EXACT [MONDO:design_pattern] synonym: "prion disease, early-onset, with prominent Psychiatric features" RELATED [OMIM:603218] +synonym: "PRNP neurodegenerative disease with chorea" EXACT [MONDO:design_pattern] xref: DOID:0090103 {source="MONDO:equivalentTo"} xref: ICD10:G10 {source="ORDO:157941/attributed", source="DOID:0090103", source="Orphanet:157941", source="ORDO:157941/ntbt"} xref: MESH:C566398 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -219047,7 +221271,7 @@ synonym: "MYP3" EXACT [MONDO:Lexical, OMIM:603221] xref: MESH:C566397 {source="MONDO:equivalentTo"} xref: OMIM:603221 {source="MONDO:equivalentTo"} xref: UMLS:C1864111 {source="NCBI:mim2gene_medline", source="OMIM:603221", source="MONDO:equivalentTo"} -is_a: MONDO:0001384 {source="DC-OMIM:603221", source="OMIM:603221"} ! myopia (disease) +is_a: MONDO:0001384 {source="DC-OMIM:603221", source="MESH:C566397", source="OMIM:603221"} ! myopia (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -219099,10 +221323,12 @@ id: MONDO:0011303 name: focal segmental glomerulosclerosis 1 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ACTN4 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_histopathological_subtype {source="Orphanet:93213"} +synonym: "ACTN4 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern] synonym: "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental glomerulosclerosis" EXACT [Orphanet:93213] synonym: "familial idiopathic steroid-resistant nephrotic syndrome with focal segmental hyalinosis" RELATED [Orphanet:93213] synonym: "focal segmental glomerulosclerosis 1" EXACT [MONDO:Lexical, OMIM:603278] synonym: "focal segmental glomerulosclerosis 1; FSGS1" RELATED [OMIM:603278] +synonym: "focal segmental glomerulosclerosis caused by mutation in ACTN4" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis type 1" EXACT [DOID:0111128, MONDORULE:1, OMIM:603278] synonym: "FSGS1" EXACT [DOID:0111128, MONDO:Lexical, OMIM:603278] synonym: "glomerulosclerosis, focal segmental, 1" RELATED [OMIM:603278] @@ -219125,10 +221351,12 @@ id: MONDO:0011304 name: cerebral cavernous malformation 2 def: "Any familial cerebral cavernous malformation in which the cause of the disease is a mutation in the CCM2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CCM2" EXACT [DOID:0060670, MONDO:Lexical, OMIM:603284] +synonym: "CCM2 familial cerebral cavernous malformation" EXACT [MONDO:design_pattern] synonym: "cerebral cavernous malformation type 2" EXACT [DOID:0060670, MONDORULE:1] synonym: "cerebral cavernous malformations 2" RELATED [MONDO:Lexical, OMIM:603284] synonym: "cerebral cavernous malformations 2; CCM2" RELATED [OMIM:603284] synonym: "cerebral cavernous malformations type 2" EXACT [MONDORULE:1, OMIM:603284] +synonym: "familial cerebral cavernous malformation caused by mutation in CCM2" EXACT [MONDO:design_pattern] xref: DOID:0060670 {source="MONDO:equivalentTo"} xref: ICD10:Q28.3 {source="DOID:0060670"} xref: MESH:C566394 {source="MONDO:equivalentTo"} @@ -219152,6 +221380,8 @@ synonym: "cerebral cavernous malformation type 3" EXACT [DOID:0060671, MONDORULE synonym: "cerebral cavernous malformations 3" EXACT [MONDO:Lexical, OMIM:603285] synonym: "cerebral cavernous malformations 3; CCM3" RELATED [OMIM:603285] synonym: "cerebral cavernous malformations type 3" EXACT [MONDORULE:1, OMIM:603285] +synonym: "familial cerebral cavernous malformation caused by mutation in PDCD10" EXACT [MONDO:design_pattern] +synonym: "PDCD10 familial cerebral cavernous malformation" EXACT [MONDO:design_pattern] xref: DOID:0060671 {source="MONDO:equivalentTo"} xref: ICD10:Q28.3 {source="DOID:0060671"} xref: MESH:C566393 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -219256,6 +221486,7 @@ xref: OMIM:603383 {source="MONDO:equivalentTo"} xref: UMLS:C1863926 {source="NCBI:mim2gene_medline", source="OMIM:603383"} is_a: MONDO:0003847 {source="MONDO:Redundant"} ! inherited genetic disease is_a: MONDO:0005338 {source="MESH:C566383"} ! open-angle glaucoma +is_a: MONDO:0020366 ! congenital glaucoma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17185 {source="mim2gene_medgen"} ! ASB10 property_value: confidence "0.6519518666964457" xsd:double @@ -219287,7 +221518,9 @@ synonym: "megalencephaly, polymicrogyria, mega corpus callosum syndrome" RELATED synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1" EXACT [MONDO:Lexical, OMIM:603387] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1; MPPH1" RELATED [OMIM:603387] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 1" EXACT [MONDORULE:1, OMIM:603387] +synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in PIK3R2" EXACT [MONDO:design_pattern] synonym: "MPPH1" RELATED [MONDO:Lexical, OMIM:603387] +synonym: "PIK3R2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern] xref: MESH:C566381 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:603387 {source="MONDO:equivalentTo"} xref: Orphanet:83473 {source="MONDO:subClassOf", source="OMIM:603387"} @@ -219427,7 +221660,7 @@ xref: MESH:C566373 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:603463 {source="MONDO:equivalentTo"} xref: Orphanet:157788 {source="OMIM:603463", source="MONDO:equivalentTo"} xref: UMLS:C1863870 {source="NCBI:mim2gene_medline", source="OMIM:603463", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0003847 {source="Orphanet:157788/inferred"} ! inherited genetic disease [Term] id: MONDO:0011325 @@ -219444,7 +221677,7 @@ xref: NCIT:C125707 {source="MONDO:kboom-pr-0.75/0.37/0.57", source="MONDO:equiva xref: OMIM:603467 {source="DOID:0111088", source="MONDO:equivalentTo"} xref: UMLS:C1414532 {source="OMIM:603467"} xref: UMLS:C3469526 {source="NCBI:mim2gene_medline", source="NCIT:C125707"} -is_a: MONDO:0019391 {source="DC-OMIM:603467", source="DOID:0111088", source="NCIT:C125707", source="OMIM:603467"} ! Fanconi anemia +is_a: MONDO:0019391 {source="DC-OMIM:603467", source="DOID:0111088", source="EFO:0009045", source="NCIT:C125707", source="OMIM:603467"} ! Fanconi anemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3587 {source="mim2gene_medgen"} ! FANCF property_value: confidence "2.5000000000000036" xsd:double @@ -219511,6 +221744,8 @@ synonym: "cerebral palsy, spastic quadriplegic, 1" EXACT [MONDO:Lexical, OMIM:60 synonym: "cerebral palsy, spastic quadriplegic, 1; CPSQ1" RELATED [OMIM:603513] synonym: "cerebral palsy, spastic quadriplegic, type 1" EXACT [MONDORULE:1, OMIM:603513] synonym: "CPSQ1" RELATED [MONDO:Lexical, OMIM:603513] +synonym: "GAD1 spastic quadriplegia" EXACT [MONDO:design_pattern] +synonym: "spastic quadriplegia caused by mutation in GAD1" EXACT [MONDO:design_pattern] synonym: "spastic quadriplegia cerebral palsy" RELATED [GARD:0010447] synonym: "spastic quadriplegic cerebral palsy" RELATED [GARD:0010447] synonym: "spastic tetraplegia cerebral palsy" RELATED [GARD:0010447] @@ -219654,6 +221889,7 @@ def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the d subset: gard_rare {source="GARD:0009929"} synonym: "familial hemophagocytic lymphohistiocytosis type 4" EXACT [DOID:0110924, MONDORULE:1] synonym: "FHL4" EXACT [DOID:0110924, MONDO:Lexical, OMIM:603552] +synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in STX11" EXACT [MONDO:design_pattern] synonym: "hemophagocytic lymphohistiocytosis, familial, 4" RELATED [MONDO:Lexical, OMIM:603552] synonym: "hemophagocytic lymphohistiocytosis, familial, 4; FHL4" RELATED [OMIM:603552] synonym: "hemophagocytic lymphohistiocytosis, familial, type 4" EXACT [MONDORULE:1, OMIM:603552] @@ -219661,6 +221897,7 @@ synonym: "HLH4" EXACT [DOID:0110924] synonym: "Hlh4" RELATED [OMIM:603552] synonym: "HPLH4" EXACT [DOID:0110924] synonym: "Hplh4" RELATED [OMIM:603552] +synonym: "STX11 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern] xref: DOID:0110924 {source="MONDO:equivalentTo"} xref: GARD:0009929 {source="MONDO:equivalentTo"} xref: MESH:C537252 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -219680,6 +221917,7 @@ def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the d subset: gard_rare {source="GARD:0009922"} synonym: "familial hemophagocytic lymphohistiocytosis type 2" EXACT [DOID:0110922, MONDORULE:1] synonym: "FHL2" EXACT [DOID:0110922, MONDO:Lexical, OMIM:603553] +synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in PRF1" EXACT [MONDO:design_pattern] synonym: "hemophagocytic lymphohistiocytosis, familial, 2" RELATED [MONDO:Lexical, OMIM:603553] synonym: "hemophagocytic lymphohistiocytosis, familial, 2; FHL2" RELATED [OMIM:603553] synonym: "hemophagocytic lymphohistiocytosis, familial, type 2" EXACT [MONDORULE:1, OMIM:603553] @@ -219687,6 +221925,7 @@ synonym: "HLH2" EXACT [DOID:0110922] synonym: "Hlh2" RELATED [OMIM:603553] synonym: "HPLH2" EXACT [DOID:0110922] synonym: "Hplh2" RELATED [OMIM:603553] +synonym: "PRF1 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern] xref: DOID:0110922 {source="MONDO:equivalentTo"} xref: GARD:0009922 {source="MONDO:equivalentTo"} xref: MESH:C537250 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -219721,7 +221960,7 @@ xref: SCTID:722067005 {source="MONDO:kboom-pr-1.00/0.81/11.37", source="MONDO:eq xref: UMLS:C1801959 {source="NCBI:mim2gene_medline", source="NCIT:C61240", source="OMIM:603554", source="MONDO:equivalentTo"} xref: UMLS:C2700553 {source="Orphanet:39041"} xref: UMLS:C2931884 {source="OMIM:603554"} -is_a: MONDO:0015974 {source="DOID:0060010", source="MONDO:Redundant", source="MONDOLEX:0011338", source="NCIT:C61240", source="linkedlifedata"} ! severe combined immunodeficiency (disease) +is_a: MONDO:0015974 {source="DOID:0060010", source="MONDO:Redundant", source="MONDOLEX:0011338", source="NCIT:C61240", source="linkedlifedata", source="linkedlifedata/inferred"} ! severe combined immunodeficiency (disease) relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17642 {source="mim2gene_medgen"} ! DCLRE1C relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9831 {source="mim2gene_medgen"} ! RAG1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9832 {source="mim2gene_medgen"} ! RAG2 @@ -219736,11 +221975,13 @@ def: "Any hereditary spastic paraplegia in which the cause of the disease is a m subset: ordo_disease {source="Orphanet:100989"} synonym: "autosomal dominant spastic paraplegia 8" EXACT [DOID:0110823] synonym: "autosomal dominant spastic paraplegia type 8" EXACT [DOID:0110823] +synonym: "hereditary spastic paraplegia caused by mutation in WASHC5" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 8" EXACT [DOID:0110823, MONDORULE:1] synonym: "spastic paraplegia 8" RELATED [GARD:0009591] synonym: "spastic paraplegia 8, autosomal dominant" RELATED [MONDO:Lexical, OMIM:603563] synonym: "spastic paraplegia 8, autosomal dominant; SPG8" RELATED [OMIM:603563] synonym: "SPG8" EXACT [DOID:0110823, MONDO:Lexical, OMIM:603563, Orphanet:100989] +synonym: "WASHC5 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] xref: DOID:0110823 {source="MONDO:equivalentTo"} xref: GARD:0009591 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G11.4 {source="ORDO:100989/ntbt", source="Orphanet:100989", source="ORDO:100989/attributed", source="DOID:0110823", source="MONDO:subClassOf"} @@ -219750,7 +221991,7 @@ xref: OMIM:603563 {source="ORDO:100989/e", source="Orphanet:100989", source="DOI xref: Orphanet:100989 {source="DOID:0110823", source="OMIM:603563", source="MONDO:equivalentTo"} xref: UMLS:C1863704 {source="ORDO:100989/e", source="Orphanet:100989", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:603563", source="MONDO:equivalentTo"} is_a: MONDO:0015088 {source="Orphanet:100989"} ! autosomal dominant pure spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:603563", source="Orphanet:100989/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110823", source="MESH:C580458", source="MONDO:Redundant", source="OMIM:603563", source="Orphanet:100989/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28984 ! WASHC5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28984 {source="mim2gene_medgen"} ! WASHC5 @@ -219924,6 +222165,7 @@ id: MONDO:0011350 name: autosomal dominant nonsyndromic deafness 17 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYH9 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 17" EXACT [DOID:0110548] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYH9" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 17" EXACT [DOID:0110548, MONDORULE:2] synonym: "Cochleosaccular Degeneration" RELATED [OMIM:603622] synonym: "deafness, autosomal dominant 17" RELATED [MONDO:Lexical, OMIM:603622] @@ -219932,6 +222174,7 @@ synonym: "deafness, autosomal dominant nonsyndromic sensorineural 17" RELATED [G synonym: "deafness, autosomal dominant type 17" EXACT [MONDORULE:2, OMIM:603622] synonym: "DFNA17" EXACT [DOID:0110548, MONDO:Lexical, OMIM:603622] synonym: "late-onset progressive hereditary hearing impairment due to cochleosaccular degeneration" RELATED [GARD:0009726] +synonym: "MYH9 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "nonsyndromic hereditary deafness DFNA17" RELATED [GARD:0009726] xref: DOID:0110548 {source="MONDO:equivalentTo"} xref: GARD:0009726 {source="OMIM-shared", source="MONDO:equivalentTo"} @@ -219949,11 +222192,13 @@ id: MONDO:0011351 name: autosomal recessive nonsyndromic deafness 21 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TECTA gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 21" EXACT [DOID:0110479] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TECTA" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 21" EXACT [DOID:0110479, MONDORULE:2] synonym: "deafness, autosomal recessive 21" RELATED [MONDO:Lexical, OMIM:603629] synonym: "deafness, autosomal recessive 21; DFNB21" RELATED [OMIM:603629] synonym: "deafness, autosomal recessive type 21" EXACT [MONDORULE:2, OMIM:603629] synonym: "DFNB21" EXACT [DOID:0110479, MONDO:Lexical, OMIM:603629] +synonym: "TECTA autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110479 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110479"} xref: MESH:C566353 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -220002,9 +222247,11 @@ name: cone-rod dystrophy 7 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RIMS1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 7" EXACT [MONDO:Lexical, OMIM:603649] synonym: "cone-ROD dystrophy 7; CORD7" RELATED [OMIM:603649] +synonym: "cone-rod dystrophy caused by mutation in RIMS1" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 7" EXACT [MONDORULE:1, OMIM:603649] synonym: "cone-rod dystrophy type 7" EXACT [DOID:0111012, MONDORULE:1] synonym: "CORD7" EXACT [DOID:0111012, MONDO:Lexical, OMIM:603649] +synonym: "RIMS1 cone-rod dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0111012 {source="MONDO:equivalentTo"} xref: MESH:C566350 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:603649 {source="DOID:0111012", source="MONDO:equivalentTo"} @@ -220158,11 +222405,13 @@ name: autosomal recessive nonsyndromic deafness 16 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the STRC gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "autosomal recessive deafness 16" EXACT [DOID:0110471] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in STRC" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 16" EXACT [DOID:0110471, MONDORULE:2] synonym: "deafness, autosomal recessive 16" RELATED [MONDO:Lexical, OMIM:603720] synonym: "deafness, autosomal recessive 16; DFNB16" RELATED [OMIM:603720] synonym: "deafness, autosomal recessive type 16" EXACT [MONDORULE:2, OMIM:603720] synonym: "DFNB16" EXACT [DOID:0110471, MONDO:Lexical, OMIM:603720] +synonym: "STRC autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110471 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110471"} xref: MESH:C566339 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -220266,12 +222515,14 @@ id: MONDO:0011369 name: hypercholesterolemia, autosomal dominant, 3 def: "Any familial hypercholesterolemia in which the cause of the disease is a mutation in the PCSK9 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +synonym: "familial hypercholesterolemia caused by mutation in PCSK9" EXACT [MONDO:design_pattern] synonym: "Fh3" RELATED [OMIM:603776] synonym: "HCHOLA3" RELATED [MONDO:Lexical, OMIM:603776] synonym: "hypercholesterolemia, autosomal dominant, 3" EXACT [MONDO:Lexical, OMIM:603776] synonym: "hypercholesterolemia, autosomal dominant, 3; HCHOLA3" RELATED [OMIM:603776] synonym: "hypercholesterolemia, autosomal dominant, type 3" EXACT [MONDORULE:1, OMIM:603776] synonym: "Low density lipoprotein cholesterol level quantitative trait locus 1" RELATED [OMIM:603776] +synonym: "PCSK9 familial hypercholesterolemia" EXACT [MONDO:design_pattern] xref: MESH:C566337 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:603776 {source="MONDO:equivalentTo"} xref: Orphanet:406 {source="OMIM:603776"} @@ -220287,8 +222538,10 @@ property_value: confidence "1.0" xsd:double id: MONDO:0011370 name: Stargardt disease 4 def: "Any Stargardt disease in which the cause of the disease is a mutation in the PROM1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "PROM1 Stargardt disease" EXACT [MONDO:design_pattern] synonym: "Stargardt disease 4" EXACT [MONDO:Lexical, OMIM:603786] synonym: "Stargardt disease 4; STGD4" RELATED [OMIM:603786] +synonym: "Stargardt disease caused by mutation in PROM1" EXACT [MONDO:design_pattern] synonym: "Stargardt disease type 4" EXACT [MONDORULE:1, OMIM:603786] synonym: "STGD4" RELATED [MONDO:Lexical, OMIM:603786] xref: MESH:C535521 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -220404,7 +222657,7 @@ xref: OMIM:603829 {source="ORDO:228140/e", source="Orphanet:228140", source="MON xref: OMIM:612956 {source="Orphanet:228140", source="MONDO:superClassOf", source="ORDO:228140/btnt"} xref: Orphanet:228140 {source="OMIM:603829", source="MONDO:equivalentTo"} xref: UMLS:C2751898 {source="NCBI:mim2gene_medline", source="OMIM:603829", source="MONDO:equivalentTo"} -is_a: MONDO:0000190 {source="DC-OMIM:603829"} ! ventricular fibrillation (disease) +is_a: MONDO:0000190 {source="DC-OMIM:603829", source="MESH:C567851"} ! ventricular fibrillation (disease) is_a: MONDO:0015110 {source="Orphanet:228140"} ! genetic cardiac rhythm disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10593 {source="mim2gene_medgen"} ! SCN5A property_value: confidence "1.6470588235294117" xsd:double @@ -220419,8 +222672,10 @@ synonym: "long QT syndrome 3" EXACT [MONDO:Lexical, OMIM:603830] synonym: "long QT syndrome 3, acquired, susceptibility to" RELATED [OMIM:603830] synonym: "long QT syndrome 3/6, digenic" RELATED [OMIM:603830] synonym: "long QT syndrome 3; LQT3" RELATED [OMIM:603830] +synonym: "long QT syndrome caused by mutation in SCN5A" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 3" EXACT [DOID:0110646, MONDORULE:1, OMIM:603830] synonym: "LQT3" EXACT [DOID:0110646, MONDO:Lexical, OMIM:603830] +synonym: "SCN5A long QT syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110646 {source="MONDO:equivalentTo"} xref: GARD:0003286 {source="MONDO:equivalentTo"} xref: ICD10:I45.8 {source="DOID:0110646"} @@ -220434,7 +222689,7 @@ xref: UMLS:C1859062 {source="NCBI:mim2gene_medline", source="OMIM:603830", sourc xref: UMLS:C2931401 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C3276240 {source="OMIM:603830"} xref: UMLS:C3276241 {source="OMIM:603830"} -is_a: MONDO:0002442 {source="MESH:C565840", source="MONDO:Redundant", source="NCIT:C137959", source="OMIM:603830"} ! long QT syndrome +is_a: MONDO:0002442 {source="DOID:0110646", source="MESH:C565840", source="MONDO:Redundant", source="NCIT:C137959", source="OMIM:603830"} ! long QT syndrome is_a: MONDO:0019171 {source="OMIM:603830", source="Orphanet:101016-prototype"} ! familial long QT syndrome intersection_of: MONDO:0002442 ! long QT syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10593 ! SCN5A @@ -220609,12 +222864,14 @@ name: autoimmune lymphoproliferative syndrome type 2A def: "A rare, primary immunodeficiency with an autosomal dominant pattern of inheritance but incomplete penetrance. It is caused by a mutation in the CASP10 (caspase-10) gene that leads to defective Fas-induced apoptosis. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." [NCIT:C39576] synonym: "ALPS-CASP10" EXACT [NCIT:C39576] synonym: "ALPS2A" EXACT [DOID:0110115, MONDO:Lexical, OMIM:603909] +synonym: "autoimmune lymphoproliferative syndrome caused by mutation in CASP10" EXACT [MONDO:design_pattern] synonym: "autoimmune lymphoproliferative syndrome type IIA" EXACT [DOID:0110115] synonym: "autoimmune lymphoproliferative syndrome, type 2" RELATED [OMIM:603909] synonym: "autoimmune lymphoproliferative syndrome, type 2A" RELATED [OMIM:603909] synonym: "autoimmune lymphoproliferative syndrome, type IIA" RELATED [MONDO:Lexical, OMIM:603909] synonym: "autoimmune lymphoproliferative syndrome, type IIA; ALPS2A" RELATED [OMIM:603909] synonym: "autoimmune lymphoproliferative syndrome-CASP10 variant" EXACT [NCIT:C39576] +synonym: "CASP10 autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern] synonym: "type 2 ALPS" EXACT [NCIT:C39576] synonym: "type 2 autoimmune lymphoproliferative syndrome" EXACT [NCIT:C39576] xref: DOID:0110115 {source="MONDO:equivalentTo"} @@ -220648,6 +222905,7 @@ name: intervertebral disc degenerative disorder def: "Any disease of a degenerative nature that affects the intervertebral disc." [NCIT:C26983] synonym: "cervical disc degenerative disease" NARROW [DOID:90, NCIT:C27156] synonym: "degenerative disc disease" EXACT [DOID:90] +synonym: "degenerative disorder of intervertebral disk" EXACT [MONDO:design_pattern] synonym: "IDD" RELATED [MONDO:Lexical, OMIM:603932] synonym: "intervertebral Disc Degeneration" EXACT [NCIT:C26983] synonym: "intervertebral disc degeneration" EXACT [DOID:90] @@ -220655,6 +222913,7 @@ synonym: "intervertebral Disc degenerative disease" EXACT [NCIT:C26983] synonym: "intervertebral Disc degenerative disorder" EXACT [NCIT:C26983] synonym: "intervertebral disc disease" EXACT [MONDO:Lexical, OMIM:603932] synonym: "intervertebral disc disease; IDD" EXACT [OMIM:603932] +synonym: "intervertebral disk degenerative disorder" EXACT [MONDO:design_pattern] synonym: "lumbar disc degeneration" NARROW [DOID:90] synonym: "vertebral Disc degenerative disease" EXACT [NCIT:C26983] synonym: "vertebral Disc degenerative disorder" EXACT [NCIT:C26983] @@ -220673,7 +222932,7 @@ xref: UMLS:C0221775 {source="OMIM:603932"} xref: UMLS:C0410606 {source="DOID:90", source="MONDO:superClassOf"} xref: UMLS:C2675551 {source="OMIM:603932"} xref: UMLS:C2676840 {source="OMIM:603932"} -is_a: MONDO:0000812 {source="MESH:D055959"} ! vertebral column disease +is_a: MONDO:0000812 {source="MESH:D055959", source="linkedlifedata/inferred"} ! vertebral column disease is_a: MONDO:0003847 ! inherited genetic disease intersection_of: MONDO:0024236 ! degenerative disorder intersection_of: disease_has_location UBERON:0001066 ! intervertebral disk @@ -220685,6 +222944,7 @@ name: microvascular complications of diabetes, susceptibility to, 1 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the VEGFA gene." [MONDO:patterns/disease_series_by_gene] synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [OMIM:603933] synonym: "microvascular Complications of diabetes, protection against" RELATED [OMIM:603933] +synonym: "microvascular complications of diabetes, susceptibility caused by mutation in VEGFA" EXACT [MONDO:design_pattern] synonym: "microvascular Complications of diabetes, susceptibility to" RELATED [OMIM:603933] synonym: "microvascular complications of diabetes, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:603933] synonym: "microvascular COMPLICATIONS of diabetes, susceptibility to, 1; MVCD1" RELATED [OMIM:603933] @@ -220694,6 +222954,7 @@ synonym: "Nephropathy, diabetic, susceptibility to" RELATED [OMIM:603933] synonym: "neuropathy, diabetic, susceptibility to" RELATED [OMIM:603933] synonym: "nonproliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:603933] synonym: "proliferative retinopathy, diabetic, susceptibility to" RELATED [OMIM:603933] +synonym: "VEGFA microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern] xref: OMIM:603933 {source="MONDO:equivalentTo"} xref: UMLS:C2676832 {source="OMIM:603933", source="NCBI:mim2gene_medline"} xref: UMLS:C2676833 {source="OMIM:603933"} @@ -220749,9 +223010,11 @@ name: focal segmental glomerulosclerosis 2 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the TRPC6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "focal segmental glomerulosclerosis 2" EXACT [MONDO:Lexical, OMIM:603965] synonym: "focal segmental glomerulosclerosis 2; FSGS2" RELATED [OMIM:603965] +synonym: "focal segmental glomerulosclerosis caused by mutation in TRPC6" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis type 2" EXACT [DOID:0111129, MONDORULE:1, OMIM:603965] synonym: "FSGS2" EXACT [DOID:0111129, MONDO:Lexical, OMIM:603965] synonym: "glomerulosclerosis, focal segmental, 2" RELATED [OMIM:603965] +synonym: "TRPC6 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern] xref: DOID:0111129 {source="MONDO:equivalentTo"} xref: ICD10:N04.1 {source="DOID:0111129"} xref: MESH:C565831 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -220849,8 +223112,10 @@ id: MONDO:0011395 name: cone-rod dystrophy 3 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ABCA4 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010653"} +synonym: "ABCA4 cone-rod dystrophy" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy 3" EXACT [MONDO:Lexical, OMIM:604116] synonym: "cone-ROD dystrophy 3; CORD3" RELATED [OMIM:604116] +synonym: "cone-rod dystrophy caused by mutation in ABCA4" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 3" EXACT [MONDORULE:1, OMIM:604116] synonym: "cone-rod dystrophy type 3" EXACT [DOID:0111013, MONDORULE:1] synonym: "CORD3" EXACT [DOID:0111013, MONDO:Lexical, OMIM:604116] @@ -220962,7 +223227,7 @@ xref: SCTID:191186002 {source="DOID:1099"} xref: SCTID:68913001 {source="DOID:1099", source="MONDO:kboom-pr-0.86/0.67/0.41", source="MONDO:equivalentTo"} xref: UMLS:C0002312 {source="DOID:1099", source="NCBI:mim2gene_medline", source="NCIT:C34368", source="ORDO:846/e", source="Orphanet:846", source="MONDO:equivalentTo", source="OMIM:604131"} xref: UMLS:C1456873 {source="ORDO:846/e", source="Orphanet:846"} -is_a: MONDO:0000984 {source="DOID:1099", source="MESH:D017085", source="NCIT:C34368", source="Orphanet:846/inferred", source="linkedlifedata"} ! thalassemia +is_a: MONDO:0000984 {source="DOID:1099", source="ICD10:D56.0", source="MESH:D017085", source="NCIT:C34368", source="Orphanet:846/inferred", source="linkedlifedata"} ! thalassemia is_a: MONDO:0017144 {source="Orphanet:846"} ! alpha-thalassemia and related diseases is_a: MONDO:0019747 {source="Orphanet:846"} ! hematological disorder with renal involvement relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4823 {source="mim2gene_medgen"} ! HBA1 @@ -220979,6 +223244,8 @@ synonym: "cardiomyopathy, dilated, 1G; CMD1G" RELATED [OMIM:604145] synonym: "cardiomyopathy, dilated, type 1G" EXACT [MONDORULE:4, OMIM:604145] synonym: "CMD1G" EXACT [DOID:0110430, MONDO:Lexical, OMIM:604145] synonym: "dilated cardiomyopathy type 1G" EXACT [DOID:0110430, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in TTN" EXACT [MONDO:design_pattern] +synonym: "TTN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110430 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110430", source="MONDO:subClassOf"} xref: MESH:C565824 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -221009,8 +223276,8 @@ def: "Congenital Cataracts Facial Dysmorphism Neuropathy (CCFDN) syndrome is a c subset: ordo_malformation_syndrome {source="Orphanet:48431"} synonym: "cataract, congenital, with Facial Dysmorphism and neuropathy" RELATED [OMIM:604168] synonym: "CCFDN" EXACT [MONDO:Lexical, OMIM:604168, Orphanet:48431] -synonym: "congenital cataracts, facial DYSMORPHISM, and neuropathy" RELATED [MONDO:Lexical, OMIM:604168] -synonym: "congenital cataracts, facial DYSMORPHISM, and neuropathy; CCFDN" RELATED [OMIM:604168] +synonym: "congenital cataracts, facial dysmorphism, and neuropathy" RELATED [MONDO:Lexical, OMIM:604168] +synonym: "congenital cataracts, facial dysmorphism, and neuropathy; CCFDN" RELATED [OMIM:604168] xref: ICD10:Q87.8 {source="ORDO:48431/attributed", source="ORDO:48431/ntbt", source="Orphanet:48431"} xref: ICD9:759.89 {source="i2s", source="MONDO:relatedTo"} xref: MESH:C565822 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -221035,9 +223302,11 @@ property_value: confidence "9.0" xsd:double id: MONDO:0011403 name: left ventricular noncompaction 1 def: "Any left ventricular noncompaction in which the cause of the disease is a mutation in the DTNA gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DTNA left ventricular noncompaction" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction 1" EXACT [MONDO:Lexical, OMIM:604169] synonym: "left ventricular noncompaction 1 with or without congenital heart defects" RELATED [OMIM:604169] synonym: "left ventricular noncompaction 1; LVNC1" RELATED [OMIM:604169] +synonym: "left ventricular noncompaction caused by mutation in DTNA" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction type 1" EXACT [MONDORULE:1, OMIM:604169] synonym: "LVNC1" RELATED [MONDO:Lexical, OMIM:604169] xref: OMIM:604169 {source="MONDO:equivalentTo"} @@ -221119,7 +223388,9 @@ subset: ordo_disease {source="Orphanet:100991"} synonym: "autosomal dominant spastic paraplegia" RELATED [GARD:0009590] synonym: "autosomal dominant spastic paraplegia 10" EXACT [DOID:0110763] synonym: "autosomal dominant spastic paraplegia type 10" EXACT [DOID:0110763] +synonym: "hereditary spastic paraplegia caused by mutation in KIF5A" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 10" EXACT [DOID:0110763, MONDORULE:2] +synonym: "KIF5A hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 10" RELATED [GARD:0009590] synonym: "spastic paraplegia 10 with or without peripheral neuropathy" RELATED [OMIM:604187] synonym: "spastic paraplegia 10, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604187] @@ -221134,7 +223405,7 @@ xref: Orphanet:100991 {source="DOID:0110763", source="OMIM:604187", source="MOND xref: UMLS:C1858712 {source="NCBI:mim2gene_medline", source="OMIM:604187", source="MEDGEN:kboom-pr98-c99", source="Orphanet:100991", source="ORDO:100991/e", source="MONDO:equivalentTo"} xref: UMLS:C4518536 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0017914 {source="Orphanet:100991"} ! pure or complex autosomal dominant spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:604187", source="Orphanet:100991/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110763", source="MESH:C537482", source="MONDO:Redundant", source="OMIM:604187", source="Orphanet:100991/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6323 ! KIF5A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6323 {source="mim2gene_medgen"} ! KIF5A @@ -221230,7 +223501,7 @@ xref: Orphanet:91492 {source="OMIM:604219", source="MONDO:subClassOf", source="M xref: Orphanet:98991 {source="OMIM:604219", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: Orphanet:98995 {source="OMIM:604219", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C1858679 {source="OMIM:604219", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="OMIM:604219"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110266", source="OMIM:604219"} ! cataract (disease) intersection_of: MONDO:0005129 ! cataract (disease) intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2388 ! CRYAA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2388 {source="mim2gene_medgen"} ! CRYAA @@ -221276,8 +223547,10 @@ synonym: "amaurosis congenita of Leber, type 3" RELATED [GARD:0009661] synonym: "LCA3" EXACT [DOID:0110331, MONDO:Lexical, OMIM:604232] synonym: "Leber congenital amaurosis 3" EXACT [MONDO:Lexical, OMIM:604232] synonym: "Leber congenital amaurosis 3; LCA3" RELATED [OMIM:604232] +synonym: "Leber congenital amaurosis caused by mutation in SPATA7" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 3" EXACT [DOID:0110331, MONDORULE:1, OMIM:604232] synonym: "retinitis pigmentosa, juvenile, Spata7-Related" RELATED [OMIM:604232] +synonym: "SPATA7 Leber congenital amaurosis" EXACT [MONDO:design_pattern] xref: DOID:0110331 {source="MONDO:equivalentTo"} xref: GARD:0009661 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110331", source="MONDO:relatedTo"} @@ -221317,7 +223590,9 @@ synonym: "hemochromatosis due to defect 1N transferrin receptor 2" RELATED [OMIM synonym: "hemochromatosis due to defect in transferrin receptor 2" EXACT [DOID:0111030] synonym: "hemochromatosis, type 3" RELATED [MONDO:Lexical, OMIM:604250] synonym: "hemochromatosis, type 3; HFE3" RELATED [OMIM:604250] +synonym: "hereditary hemochromatosis caused by mutation in TFR2" EXACT [MONDO:design_pattern] synonym: "HFE3" EXACT [DOID:0111030, MONDO:Lexical, OMIM:604250] +synonym: "TFR2 hereditary hemochromatosis" EXACT [MONDO:design_pattern] synonym: "TFR2-related hemochromatosis" EXACT [DOID:0111030, Orphanet:225123] xref: DOID:0111030 {source="MONDO:equivalentTo"} xref: GARD:0010093 {source="MONDO:equivalentTo"} @@ -221327,7 +223602,7 @@ xref: OMIM:604250 {source="ORDO:225123/e", source="Orphanet:225123", source="DOI xref: Orphanet:225123 {source="OMIM:604250", source="DOID:0111030", source="MONDO:equivalentTo"} xref: SCTID:719974003 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1858664 {source="NCBI:mim2gene_medline", source="ORDO:225123/e", source="Orphanet:225123", source="OMIM:604250", source="DOID:0111030", source="MONDO:equivalentTo"} -is_a: MONDO:0006507 {source="MESH:C537248", source="MONDO:Redundant", source="OMIM:604250", source="linkedlifedata"} ! hereditary hemochromatosis +is_a: MONDO:0006507 {source="DOID:0111030", source="MESH:C537248", source="MONDO:Redundant", source="OMIM:604250", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary hemochromatosis is_a: MONDO:0016363 {source="Orphanet:225123", source="linkedlifedata"} ! rare hereditary hemochromatosis intersection_of: MONDO:0006507 ! hereditary hemochromatosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11762 ! TFR2 @@ -221387,6 +223662,7 @@ name: mitochondrial complex V (ATP synthase) deficiency, nuclear type 1 def: "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATPAF2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare subset: prototype_pattern +synonym: "ATPAF2 mitochondrial proton-transporting ATP synthase complex deficiency" EXACT [MONDO:design_pattern] synonym: "Complex 5 mitochondrial respiratory chain deficiency" RELATED [GARD:0001459] synonym: "MC5DN1" EXACT [DOID:0050768, MONDO:Lexical, OMIM:604273] synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atpaf2 type" RELATED [OMIM:604273] @@ -221394,6 +223670,7 @@ synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 1" REL synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1" EXACT [MONDO:Lexical, OMIM:604273] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 1; MC5DN1" RELATED [OMIM:604273] synonym: "mitochondrial complex V deficiency" RELATED [GARD:0001459] +synonym: "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATPAF2" EXACT [MONDO:design_pattern] xref: DOID:0050768 {source="MONDO:equivalentTo"} xref: GARD:0001459 {source="MONDO:equivalentTo"} xref: ICD10:E88.8 {source="DOID:0050768"} @@ -221402,7 +223679,7 @@ xref: Orphanet:254913 {source="DOID:0050768", source="MONDO:subClassOf", source= xref: UMLS:C2700431 {source="NCBI:mim2gene_medline", source="OMIM:604273"} xref: UMLS:C3276276 {source="MONDO:equivalentTo", source="OMIM:604273"} is_a: MONDO:0000066 {source="DC-OMIM:604273"} ! mitochondrial complex deficiency -is_a: MONDO:0014471 {source="MONDOLEX:0011421", source="ORDO:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency +is_a: MONDO:0014471 {source="DOID:0050768", source="MONDOLEX:0011421", source="ORDO:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18802 ! ATPAF2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18802 {source="mim2gene_medgen"} ! ATPAF2 @@ -221436,6 +223713,7 @@ name: autosomal recessive limb-girdle muscular dystrophy type 2E def: "Autosomal recessive limb girdle muscular dystrophy type 2E (LGMD2E) is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by a childhood to adolescent onset of progressive pelvic- and shoulder-girdle muscle weakness, particularly affecting the pelvic girdle (adductors and flexors of hip). Usually the knees are the earliest and most affected muscles. In advanced stages, involvement of the shoulder girdle (resulting in scapular winging) and the distal muscle groups are observed. Calf hypertrophy, cardiomyopathy, respiratory impairment, tendon contractures, scoliosis, and exercise-induced myoglobinuria may be observed." [Orphanet:119] subset: gard_rare subset: ordo_disease {source="Orphanet:119"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCB" EXACT [MONDO:design_pattern] synonym: "Beta-sarcoglycan limb-girdle muscular dystrophy" RELATED [GARD:0003851] synonym: "beta-sarcoglycanopathy" BROAD [DOID:0110279, Orphanet:119] synonym: "LGMD2E" EXACT [DOID:0110279, Orphanet:119] @@ -221445,6 +223723,7 @@ synonym: "limb-girdle muscular dystrophy type 2E" RELATED [GARD:0003851] synonym: "muscular dystrophy limb-girdle with beta-sarcoglycan deficiency" RELATED [GARD:0003851] synonym: "muscular dystrophy, limb-girdle, type 2E" EXACT [DOID:0110279, MONDO:Lexical, OMIM:604286] synonym: "muscular dystrophy, limb-girdle, type 2E; LGMD2E" RELATED [OMIM:604286] +synonym: "SGCB autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110279 {source="MONDO:equivalentTo"} xref: GARD:0000870 {source="MONDO:subClassOf"} xref: GARD:0003851 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -221501,7 +223780,7 @@ xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110429"} xref: MESH:C536277 {source="MONDO:equivalentTo"} xref: OMIM:604288 {source="DOID:0110429", source="MONDO:equivalentTo"} xref: UMLS:C1858591 {source="NCBI:mim2gene_medline", source="OMIM:604288", source="MONDO:equivalentTo"} -is_a: MONDO:0005021 {source="MESH:C536277", source="MONDO:Redundant"} ! dilated cardiomyopathy +is_a: MONDO:0005021 {source="DOID:0110429", source="MESH:C536277", source="MONDO:Redundant"} ! dilated cardiomyopathy is_a: MONDO:0015470 ! familial isolated dilated cardiomyopathy is_a: MONDO:0016333 {source="MONDO:Redundant", source="OMIM:604288"} ! familial dilated cardiomyopathy property_value: confidence "0.19999999999999973" xsd:double @@ -221533,7 +223812,7 @@ is_a: MONDO:0002279 {source="DOID:0050711", source="MONDO:Redundant"} ! iron met is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disease is_a: MONDO:0017763 {source="Orphanet:48818"} ! disorder of iron metabolism and transport is_a: MONDO:0018307 {source="Orphanet:48818"} ! neurodegeneration with brain iron accumulation -is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:48818"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:48818"} ! inherited retinal dystrophy is_a: MONDO:0020098 {source="Orphanet:48818"} ! constitutional anemia due to iron metabolism disorder is_a: MONDO:0020281 {source="Orphanet:48818"} ! metabolic disease with pigmentary retinitis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2295 {source="mim2gene_medgen"} ! CP @@ -221560,7 +223839,9 @@ synonym: "ectrodactyly, ectodermal dysplasia, and cleft LIP/palate syndrome 3; E synonym: "ectrodactyly, ectodermal dysplasia, and cleft Lip/palate syndrome type 3" EXACT [MONDORULE:1, OMIM:604292] synonym: "EEC syndrome 3" EXACT [DOID:0060783] synonym: "EEC syndrome 3" RELATED [OMIM:604292] +synonym: "EEC syndrome caused by mutation in TP63" EXACT [MONDO:design_pattern] synonym: "EEC3" EXACT [DOID:0060783, MONDO:Lexical, OMIM:604292] +synonym: "TP63 EEC syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060783 {source="MONDO:equivalentTo"} xref: ICD10:Q82.4 {source="DOID:0060783"} xref: MESH:C565799 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -221630,7 +223911,7 @@ xref: UMLS:C0553662 {source="Orphanet:92", source="ORDO:92/e"} xref: UMLS:C1444838 {source="Orphanet:92", source="ORDO:92/e"} xref: UMLS:C1858558 {source="NCBI:mim2gene_medline", source="OMIM:604302"} xref: UMLS:C3495559 {source="Orphanet:92"} -is_a: MONDO:0005578 {source="NCIT:C114357"} ! arthritis +is_a: MONDO:0005578 {source="DOID:676/inferred", source="MESH:D001171", source="NCIT:C114357", source="linkedlifedata/inferred"} ! arthritis is_a: MONDO:0015940 {source="Orphanet:92"} ! rare rheumatologic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6018 {source="mim2gene_medgen"} ! IL6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7097 {source="mim2gene_medgen"} ! MIF @@ -221664,7 +223945,7 @@ xref: Orphanet:98995 {source="OMIM:604307", source="MONDO:subClassOf", source="M xref: UMLS:C1833118 {source="Orphanet:98984", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C1852438 {source="OMIM:604307", source="NCBI:mim2gene_medline", source="Orphanet:98984", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:CN207240 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:604307"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110235", source="MESH:C565133", source="MONDO:Redundant", source="OMIM:604307"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt", source="Orphanet:98984", source="Orphanet:98984/inferred"} ! early-onset non-syndromic cataract relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2410 {source="mim2gene_medgen"} ! CRYGC property_value: confidence "3.3019579861886594" xsd:double @@ -221754,6 +224035,7 @@ synonym: "dSMA1" EXACT [Orphanet:98920] synonym: "HMN 6" RELATED [OMIM:604320] synonym: "HMN VI" RELATED [GARD:0008592] synonym: "Hmn6" RELATED [OMIM:604320] +synonym: "IGHMBP2 spinal muscular atrophy" EXACT [MONDO:design_pattern] synonym: "neuronopathy, distal hereditary motor, type 6" RELATED [OMIM:604320] synonym: "neuronopathy, distal hereditary motor, type VI" RELATED [GARD:0008592] synonym: "neuronopathy, Severe infantile axonal, with respiratory failure" RELATED [OMIM:604320] @@ -221762,6 +224044,7 @@ synonym: "Severe infantile axonal neuropathy with respiratory failure type 1" EX synonym: "severe infantile axonal neuropathy with respiratory failure type 1" EXACT [DOID:0111064] synonym: "SIANRF" EXACT [DOID:0111064, Orphanet:98920] synonym: "SMARD1" EXACT [DOID:0111064, Orphanet:98920] +synonym: "spinal muscular atrophy caused by mutation in IGHMBP2" EXACT [MONDO:design_pattern] synonym: "spinal muscular atrophy with respiratory distress 1" RELATED [OMIM:604320] synonym: "spinal muscular atrophy with respiratory distress type 1" EXACT [DOID:0111064] synonym: "spinal muscular atrophy, diaphragmatic" RELATED [OMIM:604320] @@ -221777,7 +224060,7 @@ xref: OMIM:604320 {source="Orphanet:98920", source="ORDO:98920/e", source="MONDO xref: Orphanet:98920 {source="OMIM:604320", source="MONDO:equivalentTo", source="DOID:0111064"} xref: SCTID:711483003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1858517 {source="NCBI:mim2gene_medline", source="Orphanet:98920", source="MEDGEN:kboom-pr98-c99", source="OMIM:604320", source="MONDO:equivalentTo"} -is_a: MONDO:0001516 {source="DC-OMIM:604320", source="DOID:0111064", source="MESH:C536880", source="MONDO:Entailed", source="linkedlifedata"} ! spinal muscular atrophy +is_a: MONDO:0001516 {source="DC-OMIM:604320", source="DOID:0111064", source="MESH:C536880", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! spinal muscular atrophy is_a: MONDO:0015363 {source="MONDOLEX:0011436", source="Orphanet:98920"} ! autosomal recessive distal hereditary motor neuropathy intersection_of: MONDO:0001516 ! spinal muscular atrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5542 ! IGHMBP2 @@ -221918,12 +224201,14 @@ is_a: MONDO:0019369 {source="DOID:1811", source="MESH:D012019", source="Orphanet id: MONDO:0011442 name: advanced sleep phase syndrome 1 def: "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "advanced sleep phase syndrome caused by mutation in PER2" EXACT [MONDO:design_pattern] synonym: "advanced sleep phase syndrome type 1" EXACT [DOID:0110011, MONDORULE:1] synonym: "advanced sleep phase syndrome, familial, 1" RELATED [MONDO:Lexical, OMIM:604348] synonym: "advanced sleep phase syndrome, familial, 1; FASPS1" RELATED [OMIM:604348] synonym: "advanced sleep phase syndrome, familial, type 1" EXACT [MONDORULE:1, OMIM:604348] synonym: "familial advanced sleep phase syndrome 1" EXACT [DOID:0110011] synonym: "FASPS1" EXACT [DOID:0110011, MONDO:Lexical, OMIM:604348] +synonym: "PER2 advanced sleep phase syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110011 {source="MONDO:equivalentTo"} xref: OMIM:604348 {source="DOID:0110011", source="MONDO:equivalentTo"} xref: Orphanet:164736 {source="OMIM:604348", source="MONDO:subClassOf"} @@ -221938,10 +224223,12 @@ property_value: confidence "1.3640000124421054" xsd:double id: MONDO:0011443 name: febrile seizures, familial, 4 def: "Any febrile seizures, familial in which the cause of the disease is a mutation in the ADGRV1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ADGRV1 febrile seizures, familial" EXACT [MONDO:design_pattern] synonym: "adhesion G protein-coupled receptor V1" RELATED [Orphanet:122270] synonym: "convulsions, familial febrile, 4" RELATED [OMIM:604352] synonym: "DKFZp761P0710" EXACT [Orphanet:122270] synonym: "FEB4" RELATED [MONDO:Lexical, OMIM:604352] +synonym: "febrile seizures, familial caused by mutation in ADGRV1" EXACT [MONDO:design_pattern] synonym: "febrile seizures, familial, 4" EXACT [MONDO:Lexical, OMIM:604352] synonym: "febrile seizures, familial, 4; FEB4" RELATED [OMIM:604352] synonym: "febrile seizures, familial, type 4" EXACT [MONDORULE:1, OMIM:604352] @@ -221962,8 +224249,10 @@ id: MONDO:0011444 name: Duane retraction syndrome 2 def: "Any Duane retraction syndrome in which the cause of the disease is a mutation in the CHN1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare +synonym: "CHN1 Duane retraction syndrome" EXACT [MONDO:design_pattern] synonym: "Duane retraction syndrome 2" EXACT [GARD:0009966, MONDO:Lexical, OMIM:604356] synonym: "Duane retraction syndrome 2; DURS2" RELATED [OMIM:604356] +synonym: "Duane retraction syndrome caused by mutation in CHN1" EXACT [MONDO:design_pattern] synonym: "Duane retraction syndrome type 2" EXACT [MONDORULE:1, OMIM:604356] synonym: "Duane syndrome type 2" RELATED [GARD:0009966] synonym: "DURS2" RELATED [GARD:0009966, MONDO:Lexical, OMIM:604356] @@ -221989,6 +224278,7 @@ synonym: "autosomal recessive spastic paraplegia 11" EXACT [DOID:0110764] synonym: "autosomal recessive spastic paraplegia complicated with thin corpus callosum" EXACT [DOID:0110764] synonym: "autosomal recessive spastic paraplegia type 11" EXACT [DOID:0110764] synonym: "autosomal recessive spastic paraplegia with mental impairment and thin corpus callosum" EXACT [DOID:0110764] +synonym: "hereditary spastic paraplegia caused by mutation in SPG11" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia mental impairment and thin corpus callosum" RELATED [GARD:0004919] synonym: "hereditary spastic paraplegia type 11" EXACT [DOID:0110764, MONDORULE:2] synonym: "HSP-TCC" EXACT [DOID:0110764] @@ -222003,6 +224293,7 @@ synonym: "spastic paraplegia, autosomal recessive, complicated, with thin corpus synonym: "spastic paraplegia, autosomal recessive, with mental impairment and thin corpus callosum" RELATED [OMIM:604360] synonym: "spastic paraplegia-intellectual disability-thin corpus callosum syndrome" EXACT [DOID:0110764, Orphanet:2822] synonym: "SPG11" EXACT [DOID:0110764, MONDO:Lexical, OMIM:604360, Orphanet:2822] +synonym: "SPG11 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] xref: DOID:0110764 {source="MONDO:equivalentTo"} xref: GARD:0004919 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G11.4 {source="ORDO:2822/ntbt", source="DOID:0110764", source="Orphanet:2822", source="MONDO:subClassOf", source="ORDO:2822/attributed"} @@ -222017,7 +224308,7 @@ xref: UMLS:C2931821 {source="Orphanet:2822", source="ORDO:2822/e"} is_a: MONDO:0015150 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! complex hereditary spastic paraplegia is_a: MONDO:0015983 {source="Orphanet:2822"} ! rare genetic syndromic intellectual disability is_a: MONDO:0017915 {source="Orphanet:2822"} ! pure or complex autosomal recessive spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:604360", source="Orphanet:2822/inferred", source="linkedlifedata"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110764", source="MONDO:Redundant", source="NCIT:C148317", source="OMIM:604360", source="Orphanet:2822/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11226 ! SPG11 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11226 {source="mim2gene_medgen"} ! SPG11 @@ -222080,8 +224371,8 @@ xref: Orphanet:834 {source="OMIM:604369", source="MONDO:subClassOf"} xref: SCTID:87074006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0342853 {source="NCIT:C85067"} xref: UMLS:C1096903 {source="NCBI:mim2gene_medline", source="OMIM:604369", source="MONDO:equivalentTo", source="Orphanet:309334"} -is_a: MONDO:0002561 {source="MONDO:Redundant", source="NCIT:C85067", source="Orphanet:309334/inferred", source="linkedlifedata"} ! lysosomal storage disease -is_a: MONDO:0019366 ! free sialic acid storage disease +is_a: MONDO:0002561 {source="MONDO:Redundant", source="NCIT:C85067", source="Orphanet:309334/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lysosomal storage disease +is_a: MONDO:0019366 {source="Orphanet:309334"} ! free sialic acid storage disease relationship: disease_has_basis_in_disruption_of GO:0015136 {source="PMID:21502308"} ! sialic acid transmembrane transporter activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10933 {source="mim2gene_medgen"} ! SLC17A5 property_value: confidence "0.31172839506172845" xsd:double @@ -222091,11 +224382,13 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4754/salla-di id: MONDO:0011450 name: breast-ovarian cancer, familial, susceptibility to, 1 def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BRCA1 hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern] synonym: "breast cancer, familial, susceptibility to, 1" RELATED [OMIM:604370] synonym: "breast-ovarian cancer, familial, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:604370] synonym: "breast-ovarian cancer, familial, susceptibility to, 1; BROVCA1" RELATED [OMIM:604370] synonym: "breast-ovarian cancer, familial, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:604370] synonym: "BROVCA1" RELATED [MONDO:Lexical, OMIM:604370] +synonym: "hereditary breast ovarian cancer syndrome caused by mutation in BRCA1" EXACT [MONDO:design_pattern] synonym: "ovarian cancer, familial, susceptibility to, 1" RELATED [OMIM:604370] synonym: "susceptibility to familial breast-ovarian cancer 1" RELATED [OMIM:604370] xref: OMIM:604370 {source="MONDO:equivalentTo"} @@ -222119,6 +224412,8 @@ synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 1" EXACT [MONDORULE:1, OMIM:604377] synonym: "CEMCOX1" RELATED [MONDO:Lexical, OMIM:604377] synonym: "cytochrome C oxidase deficiency, fatal infantile, with cardioencephalomyopathy" RELATED [OMIM:604377] +synonym: "fatal infantile encephalocardiomyopathy caused by mutation in SCO2" EXACT [MONDO:design_pattern] +synonym: "SCO2 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern] xref: OMIM:604377 {source="MONDO:equivalentTo"} xref: Orphanet:1561 {source="MONDO:subClassOf", source="OMIM:604377"} xref: UMLS:C1858424 {source="NCBI:mim2gene_medline", source="OMIM:604377"} @@ -222135,6 +224430,7 @@ def: "Any hypotrichosis in which the cause of the disease is a mutation in the L synonym: "alopecia universalis congenita, Mari type" RELATED [GARD:0008178] synonym: "hypotrichosis 7" EXACT [MONDO:Lexical, OMIM:604379] synonym: "hypotrichosis 7; HYPT7" RELATED [OMIM:604379] +synonym: "hypotrichosis caused by mutation in LIPH" EXACT [MONDO:design_pattern] synonym: "hypotrichosis type 7" EXACT [DOID:0110704, MONDORULE:1, OMIM:604379] synonym: "hypotrichosis, autosomal recessive" RELATED [OMIM:604379] synonym: "hypotrichosis, localized, autosomal recessive 2" EXACT [DOID:0110704, OMIM:604379] @@ -222142,6 +224438,7 @@ synonym: "hypotrichosis, total, Mari type" RELATED [OMIM:604379] synonym: "HYPT7" RELATED [MONDO:Lexical, OMIM:604379] synonym: "Hypt7" EXACT [DOID:0110704] synonym: "Lah2" EXACT [DOID:0110704] +synonym: "LIPH hypotrichosis" EXACT [MONDO:design_pattern] synonym: "Mari type alopecia universalis congenita" RELATED [GARD:0008178] synonym: "total hypotrichosis, Mari type" RELATED [GARD:0008178] synonym: "total Mari type hypotrichosis," EXACT [DOID:0110704] @@ -222156,7 +224453,7 @@ xref: Orphanet:55654 {source="OMIM:604379", source="MONDO:subClassOf"} xref: UMLS:C1836672 {source="NCBI:mim2gene_medline", source="OMIM:604379"} xref: UMLS:C3148823 {source="OMIM:604379"} xref: UMLS:C3148824 {source="OMIM:604379"} -is_a: MONDO:0003037 {source="MESH:C536973/inferred", source="MONDO:Redundant", source="OMIM:604379"} ! hypotrichosis +is_a: MONDO:0003037 {source="DOID:0110704", source="MESH:C536973/inferred", source="MONDO:Redundant", source="OMIM:604379"} ! hypotrichosis is_a: MONDO:0008686 {source="ORDO:170/btnt"} ! woolly hair (disease) is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis @@ -222251,11 +224548,13 @@ id: MONDO:0011458 name: Leber congenital amaurosis 4 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the AIPL1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0009662"} +synonym: "AIPL1 Leber congenital amaurosis" EXACT [MONDO:design_pattern] synonym: "amaurosis congenita of Leber, type 4" RELATED [GARD:0009662] synonym: "cone-Rod dystrophy, Aipl1-Related" RELATED [OMIM:604393] synonym: "LCA4" EXACT [DOID:0110332, MONDO:Lexical, OMIM:604393] synonym: "Leber congenital amaurosis 4" EXACT [MONDO:Lexical, OMIM:604393] synonym: "Leber congenital amaurosis 4; LCA4" RELATED [OMIM:604393] +synonym: "Leber congenital amaurosis caused by mutation in AIPL1" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 4" EXACT [DOID:0110332, MONDORULE:1, OMIM:604393] synonym: "retinitis pigmentosa, juvenile, Aipl1-Related" RELATED [OMIM:604393] xref: DOID:0110332 {source="MONDO:equivalentTo"} @@ -222283,6 +224582,7 @@ name: arrhythmogenic right ventricular dysplasia 5 def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the TMEM43 gene." [MONDO:patterns/disease_series_by_gene] synonym: "arrhythmogenic right ventricular cardiomyopathy 5" EXACT [DOID:0110074] synonym: "arrhythmogenic right ventricular cardiomyopathy 5" RELATED [OMIM:604400] +synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in TMEM43" EXACT [MONDO:design_pattern] synonym: "arrhythmogenic right ventricular dysplasia type 5" EXACT [DOID:0110074, MONDORULE:1] synonym: "arrhythmogenic right ventricular dysplasia, familial, 5" RELATED [MONDO:Lexical, OMIM:604400] synonym: "arrhythmogenic right ventricular dysplasia, familial, 5; ARVD5" RELATED [OMIM:604400] @@ -222290,6 +224590,7 @@ synonym: "arrhythmogenic right ventricular dysplasia, familial, type 5" EXACT [M synonym: "ARVC5" EXACT [DOID:0110074] synonym: "ARVD5" EXACT [DOID:0110074, MONDO:Lexical, OMIM:604400] synonym: "familial arrhythmogenic right ventricular dysplasia 5" EXACT [DOID:0110074] +synonym: "TMEM43 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110074 {source="MONDO:equivalentTo"} xref: ICD10:I42.8 {source="DOID:0110074"} xref: MESH:C565776 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -222297,7 +224598,7 @@ xref: OMIM:604400 {source="MONDO:equivalentTo", source="DOID:0110074"} xref: Orphanet:217656 {source="OMIM:604400", source="MONDO:subClassOf"} xref: UMLS:C1858379 {source="NCBI:mim2gene_medline", source="OMIM:604400", source="MONDO:equivalentTo"} is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia -is_a: MONDO:0016587 {source="MESH:C565776", source="MONDO:Redundant", source="OMIM:604400"} ! arrhythmogenic right ventricular cardiomyopathy +is_a: MONDO:0016587 {source="DOID:0110074", source="MESH:C565776", source="MONDO:Redundant", source="OMIM:604400"} ! arrhythmogenic right ventricular cardiomyopathy intersection_of: MONDO:0016587 ! arrhythmogenic right ventricular cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28472 ! TMEM43 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28472 {source="mim2gene_medgen"} ! TMEM43 @@ -222322,18 +224623,20 @@ xref: OMIM:604401 {source="DOID:0110075", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="OMIM:604401", source="MONDO:subClassOf"} xref: UMLS:C1858378 {source="NCBI:mim2gene_medline", source="OMIM:604401", source="MONDO:equivalentTo"} is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia -is_a: MONDO:0016587 {source="MESH:C565775", source="MONDO:Redundant", source="OMIM:604401"} ! arrhythmogenic right ventricular cardiomyopathy +is_a: MONDO:0016587 {source="DOID:0110075", source="MESH:C565775", source="MONDO:Redundant", source="OMIM:604401"} ! arrhythmogenic right ventricular cardiomyopathy property_value: confidence "0.23456790123456783" xsd:double [Term] id: MONDO:0011461 name: generalized epilepsy with febrile seizures plus, type 2 def: "Any febrile seizures, familial in which the cause of the disease is a mutation in the SCN1A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "febrile seizures, familial caused by mutation in SCN1A" EXACT [MONDO:design_pattern] synonym: "febrile seizures, familial, 3A" RELATED [OMIM:604403] synonym: "Gefs+, type 2" RELATED [OMIM:604403] synonym: "GEFSP2" RELATED [MONDO:Lexical, OMIM:604403] synonym: "generalized epilepsy with febrile seizures plus, type 2" EXACT [MONDO:Lexical, OMIM:604403] synonym: "generalized epilepsy with febrile seizures plus, type 2; GEFSP2" RELATED [OMIM:604403] +synonym: "SCN1A febrile seizures, familial" EXACT [MONDO:design_pattern] xref: MESH:C565810 {source="MONDO:equivalentTo"} xref: OMIM:604403 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:604403", source="MONDO:subClassOf"} @@ -222368,7 +224671,7 @@ is_a: MONDO:0017369 {source="Orphanet:69126"} ! autoinflammatory syndrome with i is_a: MONDO:0017370 {source="Orphanet:69126"} ! autoinflammatory syndrome with skin involvement is_a: MONDO:0017954 {source="Orphanet:69126"} ! pyogenic autoinflammatory syndrome is_a: MONDO:0019299 {source="Orphanet:69126"} ! unclassified genetic skin disorder -is_a: MONDO:0019751 {source="Orphanet:69126/inferred", source="PMID:23827249"} ! autoinflammatory syndrome +is_a: MONDO:0019751 {source="NCIT:C119055", source="Orphanet:69126/inferred", source="PMID:23827249"} ! autoinflammatory syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9580 {source="mim2gene_medgen"} ! PSTPIP1 property_value: confidence "3.666666666666667" xsd:double @@ -222498,7 +224801,7 @@ xref: Orphanet:3319 {source="OMIM:604498", source="MONDO:equivalentTo", source=" xref: SCTID:716336002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1327915 {source="ORDO:3319/e", source="NCBI:mim2gene_medline", source="NCIT:C115207", source="Orphanet:3319", source="OMIM:604498", source="MONDO:equivalentTo", source="DOID:0090118"} is_a: MONDO:0001713 {source="Orphanet:3319"} ! inherited aplastic anemia -is_a: MONDO:0002049 {source="DOID:0090118", source="MESH:C535982", source="MONDO:Redundant", source="linkedlifedata"} ! thrombocytopenia +is_a: MONDO:0002049 {source="DOID:0090118", source="MESH:C535982", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! thrombocytopenia is_a: MONDO:0018796 {source="Orphanet:3319"} ! isolated constitutional thrombocytopenia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7217 {source="mim2gene_medgen"} ! MPL property_value: confidence "28.5138888888889" xsd:double @@ -222563,8 +224866,10 @@ def: "Any Leber congenital amaurosis in which the cause of the disease is a muta subset: gard_rare {source="GARD:0009983"} synonym: "amaurosis congenita of Leber, type 5" RELATED [GARD:0009983] synonym: "LCA5" EXACT [DOID:0110215, MONDO:Lexical, OMIM:604537] +synonym: "LCA5 Leber congenital amaurosis" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis 5" EXACT [MONDO:Lexical, OMIM:604537] synonym: "Leber congenital amaurosis 5; LCA5" RELATED [OMIM:604537] +synonym: "Leber congenital amaurosis caused by mutation in LCA5" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 5" EXACT [DOID:0110215, MONDORULE:1, OMIM:604537] xref: DOID:0110215 {source="MONDO:equivalentTo"} xref: GARD:0009983 {source="MONDO:equivalentTo"} @@ -222585,10 +224890,12 @@ def: "Any progressive familial heart block in which the cause of the disease is synonym: "heart block progressive familial type 1B" RELATED [GARD:0002610] synonym: "PFHB1B" EXACT [DOID:0111076, MONDO:Lexical, OMIM:604559] synonym: "Pfhbib" RELATED [OMIM:604559] +synonym: "progressive familial heart block caused by mutation in TRPM4" EXACT [MONDO:design_pattern] synonym: "progressive familial heart block type 1B" RELATED [GARD:0002610] synonym: "progressive familial heart block, type 1B" RELATED [OMIM:604559] synonym: "progressive familial heart block, type IB" RELATED [MONDO:Lexical, OMIM:604559] synonym: "progressive familial heart block, type IB; PFHB1B" RELATED [OMIM:604559] +synonym: "TRPM4 progressive familial heart block" EXACT [MONDO:design_pattern] xref: DOID:0111076 {source="MONDO:equivalentTo"} xref: GARD:0002610 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD9:426.6 {source="i2s", source="MONDO:relatedTo"} @@ -222611,6 +224918,7 @@ subset: gard_rare {source="GARD:0009200"} subset: ordo_disease {source="Orphanet:99956"} synonym: "autosomal recessive Charcot-Marie-Tooth disease with focally folded myelin sheaths type 4B2" EXACT [DOID:0110190] synonym: "Charcot Marie Tooth disease type 4B2" RELATED [GARD:0009200] +synonym: "Charcot-Marie-tooth disease type 4 caused by mutation in SBF2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, type 4B2" RELATED [MONDO:Lexical, OMIM:604563] synonym: "Charcot-Marie-Tooth disease, type 4B2, with early-onset glaucoma" RELATED [OMIM:604563] synonym: "Charcot-Marie-Tooth disease, type 4B2; CMT4B2" RELATED [OMIM:604563] @@ -222620,6 +224928,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 4B2" RELATED [OMIM:604563] synonym: "Charcot-Marie-Tooth neuropathy, type 4B2, with early-onset glaucoma" RELATED [OMIM:604563] synonym: "CMT 4B2" RELATED [GARD:0009200] synonym: "CMT4B2" EXACT [DOID:0110190, MONDO:Lexical, OMIM:604563, Orphanet:99956] +synonym: "SBF2 Charcot-Marie-tooth disease type 4" EXACT [MONDO:design_pattern] xref: DOID:0110190 {source="MONDO:equivalentTo"} xref: GARD:0009200 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="ORDO:99956/ntbt", source="Orphanet:99956", source="DOID:0110190", source="ORDO:99956/attributed"} @@ -222630,7 +224939,7 @@ xref: SCTID:715800000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C1858278 {source="Orphanet:99956", source="NCBI:mim2gene_medline", source="ORDO:99956/e", source="OMIM:604563", source="MONDO:equivalentTo"} xref: UMLS:C1858279 {source="OMIM:604563"} xref: UMLS:C1858280 {source="OMIM:604563"} -is_a: MONDO:0015626 {source="MESH:C535421", source="MONDO:Redundant", source="OMIM:604563", source="Orphanet:99956/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110190/inferred", source="MESH:C535421", source="MONDO:Redundant", source="OMIM:604563", source="Orphanet:99956/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018995 {source="DOID:0110190", source="Orphanet:99956", source="linkedlifedata"} ! Charcot-Marie-tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-tooth disease type 4 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2135 ! SBF2 @@ -222674,7 +224983,9 @@ id: MONDO:0011477 name: tooth agenesis, selective, 3 def: "Any tooth agenesis in which the cause of the disease is a mutation in the PAX9 gene." [MONDO:patterns/disease_series_by_gene] synonym: "hypodontia/oligodontia 3" RELATED [OMIM:604625] +synonym: "PAX9 tooth agenesis" EXACT [MONDO:design_pattern] synonym: "STHAG3" RELATED [MONDO:Lexical, OMIM:604625] +synonym: "tooth agenesis caused by mutation in PAX9" EXACT [MONDO:design_pattern] synonym: "tooth agenesis, selective, 3" EXACT [MONDO:Lexical, OMIM:604625] synonym: "TOOTH agenesis, selective, 3; STHAG3" RELATED [OMIM:604625] synonym: "Tooth agenesis, selective, type 3" EXACT [MONDORULE:1, OMIM:604625] @@ -222738,7 +225049,9 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0011480 name: autosomal dominant nonsyndromic deafness 20 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the ACTG1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ACTG1 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "autosomal dominant deafness 20" EXACT [DOID:0110550] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in ACTG1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 20" EXACT [DOID:0110550, MONDORULE:2] synonym: "deafness, autosomal dominant 20" RELATED [MONDO:Lexical, OMIM:604717] synonym: "deafness, autosomal dominant 20; DFNA20" RELATED [OMIM:604717] @@ -222792,7 +225105,9 @@ synonym: "cardiomyopathy, dilated, 1I" RELATED [MONDO:Lexical, OMIM:604765] synonym: "cardiomyopathy, dilated, 1I; CMD1I" RELATED [OMIM:604765] synonym: "cardiomyopathy, dilated, type 1I" EXACT [MONDORULE:4, OMIM:604765] synonym: "CMD1I" EXACT [DOID:0110431, MONDO:Lexical, OMIM:604765] +synonym: "DES familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "dilated cardiomyopathy type 1I" EXACT [DOID:0110431, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in DES" EXACT [MONDO:design_pattern] xref: DOID:0110431 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110431", source="MONDO:subClassOf"} xref: MESH:C565752 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -222917,6 +225232,8 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0011488 name: microcephaly 3, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK5RAP2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive primary microcephaly caused by mutation in CDK5RAP2" EXACT [MONDO:design_pattern] +synonym: "CDK5RAP2 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern] synonym: "MCPH3" RELATED [MONDO:Lexical, OMIM:604804] synonym: "microcephaly 3, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:604804] synonym: "microcephaly 3, primary, autosomal recessive; MCPH3" RELATED [OMIM:604804] @@ -222937,7 +225254,9 @@ def: "Autosomal dominant spastic paraplegia type 12 is a pure form of hereditary subset: ordo_disease {source="Orphanet:100993"} synonym: "autosomal dominant spastic paraplegia 12" EXACT [DOID:0110765] synonym: "autosomal dominant spastic paraplegia type 12" EXACT [DOID:0110765] +synonym: "hereditary spastic paraplegia caused by mutation in RTN2" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 12" EXACT [DOID:0110765, MONDORULE:2] +synonym: "RTN2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 12" RELATED [GARD:0009586] synonym: "spastic paraplegia 12, autosomal dominant" RELATED [MONDO:Lexical, OMIM:604805] synonym: "spastic paraplegia 12, autosomal dominant; SPG12" RELATED [OMIM:604805] @@ -222950,7 +225269,7 @@ xref: OMIM:604805 {source="DOID:0110765", source="Orphanet:100993", source="MOND xref: Orphanet:100993 {source="DOID:0110765", source="OMIM:604805", source="MONDO:equivalentTo"} xref: UMLS:C1858106 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="Orphanet:100993", source="OMIM:604805", source="MONDO:equivalentTo", source="ORDO:100993/e"} is_a: MONDO:0015088 {source="Orphanet:100993"} ! autosomal dominant pure spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:604805", source="Orphanet:100993/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110765", source="MESH:C537484", source="MONDO:Redundant", source="OMIM:604805", source="Orphanet:100993/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10468 ! RTN2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10468 {source="mim2gene_medgen"} ! RTN2 @@ -223008,6 +225327,8 @@ name: Stickler syndrome type 2 def: "Stickler syndrome is a group of hereditary connective tissue disorders characterized by distinctive facial features, eye abnormalities, hearing loss, and joint problems. The features vary widely among affected people. Stickler syndrome type 1 may be divided into 2 subgroups: the membranous vitreous type and a predominantly ocular type. Both arecaused by mutations in the COL2A1 gene. Stickler syndrome type II , sometimes called the beaded vitreous type, is caused by mutations in the COL11A1 gene. Stickler syndrome type III , sometimes called the nonocular form, is caused by mutations in the COL11A2 gene. These forms of Stickler syndrome are inherited in an autosomal dominant manner. Stickler syndrome type IV is caused by mutations in the COL9A1 gene, and Stickler syndrome type V is caused by mutations in the COL9A2 gene. These types of Stickler syndrome are inherited in an autosomal recessive manner." [https://rarediseases.info.nih.gov/diseases/5020/stickler-syndrome-type-2] subset: gard_rare {source="GARD:0005020"} subset: ordo_clinical_subtype {source="Orphanet:90654"} +synonym: "COL11A1 Stickler syndrome" EXACT [MONDO:design_pattern] +synonym: "Stickler syndrome caused by mutation in COL11A1" EXACT [MONDO:design_pattern] synonym: "Stickler syndrome type II" EXACT [NCIT:C74985] synonym: "Stickler syndrome, beaded vitreous type" RELATED [OMIM:604841] synonym: "Stickler syndrome, type 2" RELATED [GARD:0005020] @@ -223174,9 +225495,11 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10290/cortica id: MONDO:0011502 name: Wolfram syndrome 2 def: "Any Wolfram syndrome in which the cause of the disease is a mutation in the CISD2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CISD2 Wolfram syndrome" EXACT [MONDO:design_pattern] synonym: "WFS2" EXACT [DOID:0110630, MONDO:Lexical, OMIM:604928] synonym: "Wolfram syndrome 2" EXACT [MONDO:Lexical, OMIM:604928] synonym: "WOLFRAM syndrome 2; WFS2" RELATED [OMIM:604928] +synonym: "Wolfram syndrome caused by mutation in CISD2" EXACT [MONDO:design_pattern] synonym: "Wolfram syndrome type 2" EXACT [DOID:0110630, MONDORULE:1, OMIM:604928] xref: DOID:0110630 {source="MONDO:equivalentTo"} xref: ICD10:E13.8 {source="DOID:0110630"} @@ -223193,21 +225516,25 @@ property_value: confidence "5.33333333333332" xsd:double [Term] id: MONDO:0011503 name: cortisone reductase deficiency 1 -def: "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency." [NCIT:P378] +def: "Decreased activity of hexose-6-phosphatase due to autosomal recessive mutation(s) in the H6PD gene. This enzyme is necessary to generate NADPH, a cofactor in the 11-beta-hydroxysteroid dehydrogenase pathway required for conversion of cortisone to cortisol. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from 11-beta HSD type 1 deficiency." [NCIT:C131849] +synonym: "apparent cortisone reductase deficiency" EXACT [PMID:21325058] synonym: "cortisone reductase deficiency 1" EXACT [MONDO:Lexical, OMIM:604931] synonym: "cortisone reductase deficiency 1; CORTRD1" RELATED [OMIM:604931] -synonym: "cortisone reductase deficiency type 1" EXACT [DOID:0090141, MONDORULE:1, OMIM:604931] +synonym: "cortisone reductase deficiency caused by mutation in H6PD" EXACT [MONDO:design_pattern] +synonym: "cortisone reductase deficiency type 1" EXACT [DOID:0090141, MONDORULE:1, NCIT:C131849, OMIM:604931] synonym: "CORTRD1" EXACT [DOID:0090141, MONDO:Lexical, OMIM:604931] +synonym: "H6PD cortisone reductase deficiency" EXACT [MONDO:design_pattern] +synonym: "hexose-6-phosphate dehydrogenase deficiency" EXACT [NCIT:C131849] xref: DOID:0090141 {source="MONDO:equivalentTo"} xref: NCIT:C131849 {source="DOID:0090141", source="MONDO:equivalentTo"} xref: OMIM:604931 {source="DOID:0090141", source="MONDO:equivalentTo"} xref: Orphanet:168588 {source="OMIM:604931", source="MONDO:subClassOf"} xref: UMLS:C3551716 {source="NCBI:mim2gene_medline", source="OMIM:604931", source="MONDO:equivalentTo"} -is_a: MONDO:0000193 {source="DC-OMIM:604931", source="DOID:0090141", source="OMIM:604931"} ! cortisone reductase deficiency -is_a: MONDO:0015676 {source="ORDO:168588/btnt"} ! hyperandrogenism due to cortisone reductase deficiency +is_a: MONDO:0000193 {source="DC-OMIM:604931", source="DOID:0090141", source="OMIM:604931", source="ORDO:168588/btnt"} ! cortisone reductase deficiency is_a: MONDO:0019052 {source="NCIT:C131849"} ! inborn errors of metabolism intersection_of: MONDO:0000193 ! cortisone reductase deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4795 ! H6PD +relationship: disease_disrupts GO:0003845 ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4795 {source="mim2gene_medgen"} ! H6PD property_value: confidence "39.00000000000001" xsd:double @@ -223236,9 +225563,11 @@ property_value: confidence "0.0" xsd:double id: MONDO:0011505 name: familial hypobetalipoproteinemia 2 def: "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the ANGPTL3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ANGPTL3 hypobetalipoproteinemia" EXACT [MONDO:design_pattern] synonym: "combined familial hypolipidemia" EXACT [DOID:0111061] synonym: "familial hypobetalipoproteinemia type 2" EXACT [DOID:0111061, MONDORULE:1] synonym: "FHBL2" EXACT [DOID:0111061, MONDO:Lexical, OMIM:605019] +synonym: "hypobetalipoproteinemia caused by mutation in ANGPTL3" EXACT [MONDO:design_pattern] synonym: "hypobetalipoproteinemia, familial, 2" RELATED [MONDO:Lexical, OMIM:605019] synonym: "hypobetalipoproteinemia, familial, 2; FHBL2" RELATED [OMIM:605019] synonym: "hypobetalipoproteinemia, familial, type 2" EXACT [MONDORULE:1, OMIM:605019] @@ -223412,7 +225741,7 @@ xref: SCTID:63042009 {source="MONDO:kboom-pr-1.00/0.80/10.11", source="MONDO:equ xref: UMLS:C0243002 {source="NCBI:mim2gene_medline", source="Orphanet:1209", source="NCIT:C85202", source="ORDO:1209/e", source="OMIM:605067", source="MONDO:equivalentTo"} is_a: MONDO:0000471 {source="DOID:0080169", source="NCIT:C85202"} ! tricuspid valve disease is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease -is_a: MONDO:0005453 {source="MESH:D018785", source="NCIT:C85202", source="linkedlifedata"} ! congenital heart disease +is_a: MONDO:0005453 {source="MESH:D018785", source="NCIT:C85202", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital heart disease is_a: MONDO:0020289 {source="Orphanet:1209"} ! congenital tricuspid malformation property_value: confidence "4.714285714285714" xsd:double @@ -223482,6 +225811,7 @@ id: MONDO:0011519 name: autosomal dominant nonsyndromic deafness 23 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SIX1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 23" EXACT [DOID:0110553] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in SIX1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 23" EXACT [DOID:0110553, MONDORULE:2] synonym: "deafness, autosomal dominant 23" RELATED [MONDO:Lexical, OMIM:605192] synonym: "deafness, autosomal dominant 23; DFNA23" RELATED [OMIM:605192] @@ -223489,6 +225819,7 @@ synonym: "deafness, autosomal dominant nonsyndromic sensorineural 23" RELATED [G synonym: "deafness, autosomal dominant type 23" EXACT [MONDORULE:2, OMIM:605192] synonym: "DFNA 23" RELATED [GARD:0001708] synonym: "DFNA23" EXACT [DOID:0110553, MONDO:Lexical, OMIM:605192] +synonym: "SIX1 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110553 {source="MONDO:equivalentTo"} xref: GARD:0001708 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110553"} @@ -223550,7 +225881,7 @@ xref: OMIM:605229 {source="ORDO:100995/e", source="DOID:0110767", source="Orphan xref: Orphanet:100995 {source="OMIM:605229", source="DOID:0110767", source="MONDO:equivalentTo"} xref: UMLS:C1854568 {source="OMIM:605229", source="NCBI:mim2gene_medline", source="ORDO:100995/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:100995", source="MONDO:equivalentTo"} is_a: MONDO:0017915 {source="Orphanet:100995"} ! pure or complex autosomal recessive spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:605229", source="Orphanet:100995/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110767", source="MESH:C537486", source="MONDO:Redundant", source="OMIM:605229", source="Orphanet:100995/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.611111111111114" xsd:double [Term] @@ -223664,7 +225995,7 @@ xref: OMIM:605253 {source="GARD:0006170", source="ORDO:99951/e", source="Orphane xref: Orphanet:99951 {source="GARD:0006170", source="MONDO:equivalentTo", source="OMIM:605253", source="DOID:0110195"} xref: UMLS:C0393818 {source="NCBI:mim2gene_medline", source="OMIM:605253"} xref: UMLS:C3551756 {source="OMIM:605253"} -is_a: MONDO:0015626 {source="MESH:C535301", source="MONDO:Redundant", source="OMIM:605253", source="Orphanet:99951/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110195/inferred", source="MESH:C535301", source="MONDO:Redundant", source="OMIM:605253", source="Orphanet:99951/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018995 {source="DOID:0110195", source="Orphanet:99951"} ! Charcot-Marie-tooth disease type 4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3239 {source="mim2gene_medgen"} ! EGR2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7225 {source="mim2gene_medgen"} ! MPZ @@ -223679,10 +226010,12 @@ subset: gard_rare {source="GARD:0010578"} subset: ordo_clinical_subtype {source="Orphanet:101089"} synonym: "Activation-induced cytidine deaminase deficiency" EXACT [Orphanet:101089] synonym: "activation-induced cytidine deaminase deficiency" EXACT [DOID:0060758] +synonym: "AICDA hyper-IgM syndrome" EXACT [MONDO:design_pattern] synonym: "aid deficiency" EXACT [DOID:0060758, Orphanet:101089] synonym: "HIGM2" EXACT [DOID:0060758, MONDO:Lexical, OMIM:605258, Orphanet:101089] synonym: "hyper IgM syndrome 2" RELATED [GARD:0010578] synonym: "hyper-IgM syndrome 2" RELATED [OMIM:605258] +synonym: "hyper-IgM syndrome caused by mutation in AICDA" EXACT [MONDO:design_pattern] synonym: "hyper-IgM syndrome type 2" EXACT [DOID:0060758] synonym: "immunodeficiency with hyper IgM type 2" RELATED [GARD:0010578] synonym: "immunodeficiency with hyper-IgM type 2" RELATED [DOID:0060758] @@ -223780,7 +226113,9 @@ def: "Any hereditary spastic paraplegia in which the cause of the disease is a m subset: ordo_disease {source="Orphanet:100994"} synonym: "autosomal dominant spastic paraplegia 13" EXACT [DOID:0110766] synonym: "autosomal dominant spastic paraplegia type 13" RELATED [Orphanet:100994] +synonym: "hereditary spastic paraplegia caused by mutation in HSPD1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 13" EXACT [DOID:0110766, MONDORULE:2] +synonym: "HSPD1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 13" RELATED [GARD:0009616] synonym: "spastic paraplegia 13, autosomal dominant" RELATED [MONDO:Lexical, OMIM:605280] synonym: "spastic paraplegia 13, autosomal dominant; SPG13" RELATED [OMIM:605280] @@ -223793,7 +226128,7 @@ xref: OMIM:605280 {source="DOID:0110766", source="Orphanet:100994", source="MOND xref: Orphanet:100994 {source="OMIM:605280", source="DOID:0110766", source="MONDO:equivalentTo"} xref: UMLS:C1854467 {source="OMIM:605280", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="Orphanet:100994", source="MONDO:equivalentTo", source="ORDO:100994/e"} is_a: MONDO:0017914 {source="Orphanet:100994"} ! pure or complex autosomal dominant spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:605280", source="Orphanet:100994/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110766", source="MESH:C537485", source="MONDO:Redundant", source="OMIM:605280", source="Orphanet:100994/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5261 ! HSPD1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5261 {source="mim2gene_medgen"} ! HSPD1 @@ -223835,6 +226170,7 @@ name: Charcot-Marie-tooth disease type 4G def: "Charcot-Marie-Tooth disease type 4G (CMT4G) is a subtype of Charcot-Marie-Tooth disease type 4 characterized by early childhood onset of progressive distal muscle weakness and atrophy, delayed motor development, prominent distal sensory impairment, areflexia, moderately reduced nerve conduction velocities, and foot and hand deformities in Balkan (Russe) Gypsies." [Orphanet:99953] subset: ordo_disease {source="Orphanet:99953"} synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4G" EXACT [DOID:0110196] +synonym: "Charcot-Marie-tooth disease type 4 caused by mutation in HK1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4G" RELATED [OMIM:605285] synonym: "Charcot-Marie-Tooth disease, type 4G" RELATED [OMIM:605285] synonym: "Charcot-Marie-Tooth neuropathy type 4G" EXACT [DOID:0110196] @@ -223843,6 +226179,7 @@ synonym: "CMT4G" EXACT [DOID:0110196, Orphanet:99953] synonym: "hereditary motor and sensory neuropathy Russe type" EXACT [DOID:0110196] synonym: "hereditary motor and sensory neuropathy, Russe type" EXACT [Orphanet:99953] synonym: "hereditary motor and sensory neuropathy, Russe type" RELATED [OMIM:605285] +synonym: "HK1 Charcot-Marie-tooth disease type 4" EXACT [MONDO:design_pattern] synonym: "HMSNR" EXACT [DOID:0110196, MONDO:Lexical, OMIM:605285, Orphanet:99953] synonym: "neuropathy, hereditary motor and sensory, Russe type" RELATED [MONDO:Lexical, OMIM:605285] synonym: "neuropathy, hereditary motor and sensory, Russe type; HMSNR" RELATED [OMIM:605285] @@ -223855,7 +226192,7 @@ xref: Orphanet:99953 {source="DOID:0110196", source="MONDO:equivalentTo", source xref: SCTID:715799004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1854449 {source="NCBI:mim2gene_medline", source="Orphanet:99953", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="OMIM:605285"} is_a: MONDO:0002316 {source="DC-OMIM:605285", source="MONDOLEX:0011534", source="linkedlifedata"} ! motor peripheral neuropathy -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:605285", source="Orphanet:99953/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110196/inferred", source="MONDO:Redundant", source="OMIM:605285", source="Orphanet:99953/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018995 {source="DOID:0110196", source="Orphanet:99953", source="linkedlifedata"} ! Charcot-Marie-tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-tooth disease type 4 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4922 ! HK1 @@ -223867,10 +226204,12 @@ id: MONDO:0011535 name: split hand-foot malformation 4 def: "Any split hand-foot malformation in which the cause of the disease is a mutation in the TP63 gene." [MONDO:patterns/disease_series_by_gene] synonym: "SHFM4" EXACT [DOID:0090023, MONDO:Lexical, OMIM:605289] +synonym: "split hand-foot malformation caused by mutation in TP63" EXACT [MONDO:design_pattern] synonym: "split hand-foot malformation type 4" EXACT [DOID:0090023, MONDORULE:1] synonym: "split-hand/foot malformation 4" RELATED [MONDO:Lexical, OMIM:605289] synonym: "split-hand/foot malformation 4; SHFM4" RELATED [OMIM:605289] synonym: "split-hand/foot malformation type 4" EXACT [MONDORULE:1, OMIM:605289] +synonym: "TP63 split hand-foot malformation" EXACT [MONDO:design_pattern] xref: DOID:0090023 {source="MONDO:equivalentTo"} xref: ICD10:Q71.6 {source="DOID:0090023"} xref: MESH:C565344 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -223894,7 +226233,7 @@ xref: MESH:C565343 {source="MONDO:equivalentTo"} xref: OMIM:605293 {source="MONDO:equivalentTo"} xref: Orphanet:98673 {source="OMIM:605293", source="MONDO:subClassOf"} xref: UMLS:C1854430 {source="OMIM:605293", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003608 {source="MONDO:Redundant", source="OMIM:605293"} ! optic atrophy +is_a: MONDO:0003608 {source="MESH:C565343/inferred", source="MONDO:Redundant", source="OMIM:605293"} ! optic atrophy is_a: MONDO:0008134 {source="ORDO:98673/btnt"} ! autosomal dominant optic atrophy, classic form property_value: confidence "12.182750000000004" xsd:double @@ -223938,10 +226277,12 @@ synonym: "NEM5" EXACT [DOID:0110936, MONDO:Lexical, OMIM:605355] synonym: "nemaline myopathy 5" EXACT [MONDO:Lexical, OMIM:605355] synonym: "nemaline myopathy 5, Amish type" EXACT [DOID:0110936] synonym: "nemaline MYOPATHY 5; NEM5" RELATED [OMIM:605355] +synonym: "nemaline myopathy caused by mutation in TNNT1" EXACT [MONDO:design_pattern] synonym: "nemaline Myopathy type 5" EXACT [MONDORULE:1, OMIM:605355] synonym: "nemaline myopathy type 5" EXACT [DOID:0110936, MONDORULE:1] synonym: "nemaline Myopathy, Amish type" RELATED [OMIM:605355] synonym: "nemaline myopathy, caused by mutation in the troponin t1 gene" RELATED [GARD:0008334] +synonym: "TNNT1 nemaline myopathy" EXACT [MONDO:design_pattern] xref: DOID:0110936 {source="MONDO:equivalentTo"} xref: GARD:0008334 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G71.2 {source="Orphanet:98902", source="ORDO:98902/attributed", source="ORDO:98902/ntbt"} @@ -223992,6 +226333,8 @@ synonym: "cardiomyopathy, dilated, type 1J" EXACT [MONDORULE:4, OMIM:605362] synonym: "cardiomyopathy, dilated, with sensorineural hearing loss, autosomal dominant" RELATED [OMIM:605362] synonym: "CMD1J" EXACT [DOID:0110440, MONDO:Lexical, OMIM:605362] synonym: "dilated cardiomyopathy type 1J" EXACT [DOID:0110440, MONDORULE:4] +synonym: "EYA4 familial dilated cardiomyopathy" EXACT [MONDO:design_pattern] +synonym: "familial dilated cardiomyopathy caused by mutation in EYA4" EXACT [MONDO:design_pattern] synonym: "neurosensory deafness with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622] synonym: "neurosensory hearing loss with dilated cardiomyopathy" EXACT [DOID:0110440, Orphanet:217622] synonym: "sensorineural deafness with dilated cardiomyopathy" EXACT [DOID:0110440] @@ -224041,10 +226384,12 @@ name: paragangliomas 3 def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHC gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010545"} synonym: "glomus tumors, familial, 3" RELATED [OMIM:605373] +synonym: "paraganglioma caused by mutation in SDHC" EXACT [MONDO:design_pattern] synonym: "paragangliomas 3" EXACT [MONDO:Lexical, OMIM:605373] synonym: "paragangliomas 3; PGL3" RELATED [OMIM:605373] synonym: "paragangliomas type 3" EXACT [MONDORULE:1, OMIM:605373] synonym: "PGL3" RELATED [MONDO:Lexical, OMIM:605373] +synonym: "SDHC paraganglioma" EXACT [MONDO:design_pattern] synonym: "SDHC-Related hereditary paraganglioma-pheochromocytoma syndrome (paragangliomas 3)" RELATED [GARD:0010545] xref: GARD:0010545 {source="MONDO:equivalentTo"} xref: OMIM:605373 {source="MONDO:equivalentTo"} @@ -224062,7 +226407,9 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10545/paragan id: MONDO:0011545 name: autosomal dominant nocturnal frontal lobe epilepsy 3 def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNB2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNB2" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 3" EXACT [DOID:0060684, MONDORULE:1] +synonym: "CHRNB2 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern] synonym: "ENFL3" EXACT [DOID:0060684, MONDO:Lexical, OMIM:605375] synonym: "epilepsy, nocturnal frontal lobe, 3" RELATED [MONDO:Lexical, OMIM:605375] synonym: "epilepsy, nocturnal frontal lobe, 3; ENFL3" RELATED [OMIM:605375] @@ -224105,9 +226452,11 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i synonym: "cataract 31, multiple types" RELATED [MONDO:Lexical, OMIM:605387] synonym: "cataract 31, multiple types; CTRCT31" RELATED [OMIM:605387] synonym: "cataract, posterior polar, 3" RELATED [OMIM:605387] +synonym: "CHMP4B early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] synonym: "CPP3" NARROW [DOID:0110265] synonym: "CTPP3" NARROW [DOID:0110265] synonym: "CTRCT31" EXACT [DOID:0110265, MONDO:Lexical, OMIM:605387] +synonym: "early-onset non-syndromic cataract caused by mutation in CHMP4B" EXACT [MONDO:design_pattern] synonym: "posterior polar cataract 3" NARROW [DOID:0110265] xref: DOID:0110265 {source="MONDO:equivalentTo"} xref: GARD:0010227 {source="OMIM-shared", source="MONDO:equivalentTo"} @@ -224117,7 +226466,7 @@ xref: OMIM:605387 {source="DOID:0110265", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="OMIM:605387", source="MONDO:subClassOf"} xref: Orphanet:98993 {source="OMIM:605387", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C1854311 {source="NCBI:mim2gene_medline", source="OMIM:605387"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C535343", source="MONDO:Redundant", source="OMIM:605387"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110265", source="MESH:C535343", source="MONDO:Redundant", source="OMIM:605387"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16171 ! CHMP4B @@ -224145,12 +226494,14 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10451/cerebra id: MONDO:0011549 name: hypotrichosis 1 def: "Any hypotrichosis in which the cause of the disease is a mutation in the APCDD1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "APCDD1 hypotrichosis" EXACT [MONDO:design_pattern] synonym: "hereditary generalized hypotrichosis simplex" EXACT [DOID:0110698] synonym: "HHS" BROAD [DOID:0110698] synonym: "HTS" EXACT [DOID:0110698] synonym: "HTS" RELATED [OMIM:605389] synonym: "hypotrichosis 1" EXACT [MONDO:Lexical, OMIM:605389] synonym: "hypotrichosis 1; HYPT1" RELATED [OMIM:605389] +synonym: "hypotrichosis caused by mutation in APCDD1" EXACT [MONDO:design_pattern] synonym: "hypotrichosis simplex, generalized, hereditary" RELATED [OMIM:605389] synonym: "hypotrichosis type 1" EXACT [DOID:0110698, MONDORULE:1, OMIM:605389] synonym: "HYPT1" EXACT [DOID:0110698, MONDO:Lexical, OMIM:605389] @@ -224158,7 +226509,7 @@ xref: DOID:0110698 {source="MONDO:equivalentTo"} xref: OMIM:605389 {source="DOID:0110698", source="MONDO:equivalentTo"} xref: Orphanet:55654 {source="OMIM:605389", source="MONDO:subClassOf"} xref: UMLS:C1854310 {source="NCBI:mim2gene_medline", source="OMIM:605389", source="MONDO:subClassOf"} -is_a: MONDO:0003037 {source="MONDO:Redundant", source="OMIM:605389"} ! hypotrichosis +is_a: MONDO:0003037 {source="DOID:0110698", source="MONDO:Redundant", source="OMIM:605389"} ! hypotrichosis is_a: MONDO:0018914 ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15718 ! APCDD1 @@ -224198,7 +226549,7 @@ xref: Orphanet:101150 {source="OMIM:605407", source="MONDO:equivalentTo"} xref: SCTID:715827001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/6.65"} xref: UMLS:C1854299 {source="NCBI:mim2gene_medline"} xref: UMLS:C2673535 {source="OMIM:605407", source="Orphanet:101150", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006025 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal recessive disease +is_a: MONDO:0006025 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! autosomal recessive disease is_a: MONDO:0016812 {source="MONDO:Entailed", source="Orphanet:101150", source="linkedlifedata"} ! dopa-responsive dystonia is_a: MONDO:0017307 {source="Orphanet:101150"} ! disorder of tyrosine metabolism is_a: MONDO:0017756 {source="Orphanet:101150"} ! disorder of pterin metabolism @@ -224332,7 +226683,7 @@ xref: UMLS:C2676439 {source="OMIM:605472"} xref: UMLS:C2931213 {source="OMIM:605472"} xref: UMLS:C3148929 {source="OMIM:605472"} is_a: MONDO:0016484 {source="DOID:0110839", source="MONDOLEX:0011558"} ! Usher syndrome type 2 -is_a: MONDO:0019501 {source="MESH:C536492", source="MONDO:Redundant", source="OMIM:605472"} ! Usher syndrome +is_a: MONDO:0019501 {source="DOID:0110839/inferred", source="MESH:C536492", source="MONDO:Redundant", source="OMIM:605472"} ! Usher syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17416 {source="mim2gene_medgen"} ! ADGRV1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26257 {source="mim2gene_medgen"} ! PDZD7 property_value: confidence "2.4444444444444438" xsd:double @@ -224416,7 +226767,7 @@ xref: MESH:C565324 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:605543 {source="DOID:0060895", source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="OMIM:605543", source="MONDO:subClassOf"} xref: UMLS:C1854182 {source="NCBI:mim2gene_medline", source="OMIM:605543", source="MONDO:equivalentTo"} -is_a: MONDO:0005180 {source="MESH:C565324", source="MONDO:Redundant", source="OMIM:605543"} ! Parkinson disease +is_a: MONDO:0005180 {source="DOID:0060895/inferred", source="MESH:C565324", source="MONDO:Redundant", source="OMIM:605543"} ! Parkinson disease is_a: MONDO:0018466 {source="DOID:0060895", source="Orphanet:411602"} ! hereditary late onset Parkinson disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11138 {source="mim2gene_medgen"} ! SNCA property_value: confidence "0.3096492687679333" xsd:double @@ -224523,11 +226874,13 @@ id: MONDO:0011568 name: autosomal dominant nonsyndromic deafness 25 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the SLC17A8 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 25" EXACT [DOID:0110555] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in SLC17A8" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 25" EXACT [DOID:0110555, MONDORULE:2] synonym: "deafness, autosomal dominant 25" RELATED [MONDO:Lexical, OMIM:605583] synonym: "deafness, autosomal dominant 25; DFNA25" RELATED [OMIM:605583] synonym: "deafness, autosomal dominant type 25" EXACT [MONDORULE:2, OMIM:605583] synonym: "DFNA25" EXACT [DOID:0110555, MONDO:Lexical, OMIM:605583] +synonym: "SLC17A8 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110555 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110555"} xref: MESH:C565319 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -224551,6 +226904,7 @@ synonym: "autosomal recessive axonal CMT4C1" EXACT [DOID:0110156, Orphanet:98856 synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2B1" EXACT [DOID:0110156, Orphanet:98856] synonym: "Charcot Marie Tooth disease type 2B1" RELATED [GARD:0008548] synonym: "Charcot-Marie-Tooth disease neuronal type 2B1" EXACT [DOID:0110156] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in LMNA" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, 2B1" RELATED [OMIM:605588] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B1" RELATED [OMIM:605588] synonym: "Charcot-Marie-Tooth disease, axonal, type 2B1" RELATED [GARD:0008548, MONDO:Lexical, OMIM:605588] @@ -224560,6 +226914,7 @@ synonym: "Charcot-Marie-Tooth neuropathy type 2B1" EXACT [DOID:0110156] synonym: "Charcot-Marie-Tooth neuropathy, type 2B1" RELATED [OMIM:605588] synonym: "CMT 2B1" RELATED [GARD:0008548] synonym: "CMT2B1" EXACT [DOID:0110156, MONDO:Lexical, OMIM:605588] +synonym: "LMNA Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110156 {source="MONDO:equivalentTo"} xref: GARD:0008548 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="Orphanet:98856", source="DOID:0110156", source="ORDO:98856/attributed", source="ORDO:98856/ntbt"} @@ -224567,7 +226922,7 @@ xref: MESH:C537990 {source="Orphanet:98856", source="MONDO:ontobio", source="ORD xref: OMIM:605588 {source="Orphanet:98856", source="DOID:0110156", source="ORDO:98856/e", source="MONDO:equivalentTo"} xref: Orphanet:98856 {source="DOID:0110156", source="OMIM:605588", source="MONDO:equivalentTo"} xref: UMLS:C1854154 {source="Orphanet:98856", source="NCBI:mim2gene_medline", source="OMIM:605588", source="MEDGEN:kboom-pr98-c99", source="ORDO:98856/e", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C537990", source="MONDO:Redundant", source="OMIM:605588", source="Orphanet:98856/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110156/inferred", source="MESH:C537990", source="MONDO:Redundant", source="OMIM:605588", source="Orphanet:98856/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110156"} ! Charcot-Marie-tooth disease type 2 is_a: MONDO:0019601 {source="MONDOLEX:0011569", source="Orphanet:98856"} ! autosomal recessive axonal hereditary motor and sensory neuropathy is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy @@ -224590,6 +226945,7 @@ synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2B2" EXACT synonym: "autosomal recessive axonal CMT4C3" EXACT [DOID:0110179, Orphanet:101101] synonym: "Charcot Marie Tooth disease type 2B2" RELATED [GARD:0001249] synonym: "Charcot-Marie-Tooth disease neuronal type 2B2" EXACT [DOID:0110179] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in MED25" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, B2" RELATED [GARD:0001249] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2B2" RELATED [OMIM:605589] synonym: "Charcot-Marie-Tooth disease, axonal, type 2B2" RELATED [GARD:0001249, MONDO:Lexical, OMIM:605589] @@ -224599,6 +226955,7 @@ synonym: "Charcot-Marie-Tooth neuropathy type 2B2" EXACT [DOID:0110179] synonym: "Charcot-Marie-Tooth neuropathy, type 2B2" RELATED [OMIM:605589] synonym: "CMT 2B2" RELATED [GARD:0001249] synonym: "CMT2B2" EXACT [DOID:0110179, MONDO:Lexical, OMIM:605589] +synonym: "MED25 Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110179 {source="MONDO:equivalentTo"} xref: GARD:0001249 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="DOID:0110179", source="ORDO:101101/attributed", source="Orphanet:101101", source="ORDO:101101/ntbt"} @@ -224607,7 +226964,7 @@ xref: OMIM:605589 {source="DOID:0110179", source="Orphanet:101101", source="ORDO xref: Orphanet:101101 {source="OMIM:605589", source="DOID:0110179", source="MONDO:equivalentTo"} xref: SCTID:719981005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1854150 {source="NCBI:mim2gene_medline", source="OMIM:605589", source="Orphanet:101101", source="ORDO:101101/e", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C537991", source="MONDO:Redundant", source="OMIM:605589", source="Orphanet:101101/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110179/inferred", source="MESH:C537991", source="MONDO:Redundant", source="OMIM:605589", source="Orphanet:101101/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110179"} ! Charcot-Marie-tooth disease type 2 is_a: MONDO:0019601 {source="MONDOLEX:0011570", source="Orphanet:101101"} ! autosomal recessive axonal hereditary motor and sensory neuropathy intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 @@ -224757,7 +227114,7 @@ property_value: confidence "3.533333333333334" xsd:double [Term] id: MONDO:0011579 -name: late-onset retinal degenration +name: late-onset retinal degeneration def: "Late-onset retinal degeneration is an inherited retinal dystrophy characterized by delayed dark adaptation and nyctalopia and drusen deposits presenting in adulthood, followed by cone and rod degeneration that presents in the sixth decade of life, which leads to central vision loss. Anterior segment features such as peripupillary iris transillumination defects and abnormally long anterior zonular insertions are also observed. Choroidal neovascularization and glaucoma may occur in the late stages of the disease." [Orphanet:67042] subset: ordo_disease {source="Orphanet:67042"} synonym: "autosomal dominant late-onset retinal degeneration" EXACT [DOID:0060869, Orphanet:67042] @@ -224774,7 +227131,7 @@ xref: Orphanet:67042 {source="DOID:0060869", source="MONDO:equivalentTo", source xref: SCTID:719431007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1854065 {source="NCBI:mim2gene_medline", source="Orphanet:67042", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:605670"} is_a: MONDO:0004580 {source="DOID:0060869", source="MESH:C565309", source="MONDO:Redundant"} ! retinal degeneration -is_a: MONDO:0019118 {source="Orphanet:67042", source="linkedlifedata"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:67042", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14344 {source="mim2gene_medgen"} ! C1QTNF5 property_value: confidence "6.499999999999997" xsd:double @@ -224833,12 +227190,14 @@ id: MONDO:0011582 name: multiple mitochondrial dysfunctions syndrome 1 def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the NFU1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:401869"} +synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in NFU1" EXACT [MONDO:design_pattern] synonym: "Mmds" BROAD [OMIM:605711] synonym: "MMDS1" RELATED [MONDO:Lexical, OMIM:605711] synonym: "multiple mitochondrial dysfunctions syndrome 1" EXACT [MONDO:Lexical, OMIM:605711] synonym: "multiple mitochondrial dysfunctions syndrome 1; MMDS1" RELATED [OMIM:605711] synonym: "multiple mitochondrial dysfunctions syndrome type 1" EXACT [DOID:0080133, MONDORULE:1, OMIM:605711] synonym: "NFU1 deficiency" EXACT [Orphanet:401869] +synonym: "NFU1 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern] xref: DOID:0080133 {source="MONDO:equivalentTo"} xref: ICD10:E88.8 {source="Orphanet:401869", source="ORDO:401869/ntbt", source="ORDO:401869/attributed"} xref: OMIM:605711 {source="Orphanet:401869", source="ORDO:401869/e", source="DOID:0080133", source="MONDO:equivalentTo"} @@ -224961,7 +227320,7 @@ xref: OMIM:605727 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:605727"} xref: UMLS:C1854022 {source="OMIM:605727", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0005349 {source="DC-OMIM:605727", source="OMIM:605727"} ! otosclerosis (disease) +is_a: MONDO:0005349 {source="DC-OMIM:605727", source="MESH:C565302", source="OMIM:605727"} ! otosclerosis (disease) [Term] id: MONDO:0011587 @@ -224984,7 +227343,7 @@ xref: OMIM:605728 {source="DOID:0110254", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:605728"} xref: Orphanet:98985 {source="DOID:0110254", source="MONDO:subClassOf", source="OMIM:605728"} xref: UMLS:C1854021 {source="NCBI:mim2gene_medline", source="OMIM:605728"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C565301", source="MONDO:Redundant", source="OMIM:605728"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110254", source="MESH:C565301", source="MONDO:Redundant", source="OMIM:605728"} ! cataract (disease) is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract is_a: MONDO:0020372 {source="ORDO:98985/btnt"} ! early-onset sutural cataract is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt"} ! early-onset partial cataract @@ -225053,7 +227412,7 @@ xref: OMIM:605749 {source="DOID:0110246", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="OMIM:605749", source="MONDO:subClassOf"} xref: Orphanet:98984 {source="OMIM:605749", source="MONDO:directSiblingOf", source="MONDO:subClassOf"} xref: UMLS:C1854003 {source="OMIM:605749", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C565298", source="MONDO:Redundant", source="OMIM:605749"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110246", source="MESH:C565298", source="MONDO:Redundant", source="OMIM:605749"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract property_value: confidence "3.3019579861886594" xsd:double @@ -225128,9 +227487,11 @@ name: atopic dermatitis 2 def: "Any atopic eczema in which the cause of the disease is a mutation in the FLG gene." [MONDO:patterns/disease_series_by_gene] synonym: "ATOD2" EXACT [DOID:0110098, MONDO:Lexical, OMIM:605803] synonym: "atopic dermatitis type 2" EXACT [DOID:0110098, MONDORULE:1] +synonym: "atopic eczema caused by mutation in FLG" EXACT [MONDO:design_pattern] synonym: "dermatitis, ATOPIC, 2" RELATED [MONDO:Lexical, OMIM:605803] synonym: "dermatitis, ATOPIC, 2; ATOD2" RELATED [OMIM:605803] synonym: "dermatitis, Atopic, type 2" EXACT [MONDORULE:1, OMIM:605803] +synonym: "FLG atopic eczema" EXACT [MONDO:design_pattern] xref: DOID:0110098 {source="MONDO:equivalentTo"} xref: MESH:C565293 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:605803 {source="DOID:0110098", source="MONDO:equivalentTo"} @@ -225197,7 +227558,7 @@ xref: Orphanet:179 {source="DOID:0111079", source="MONDO:equivalentTo", source=" xref: SCTID:231981005 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0339402 {source="MEDGEN:kboom-pr95-c96", source="MONDO:equivalentTo"} xref: UMLS:C1853959 {source="Orphanet:179", source="DOID:0111079", source="NCBI:mim2gene_medline", source="ORDO:179/e", source="MONDO:equivalentTo", source="OMIM:605808", source="MEDGEN:kboom-pr92-c96"} -is_a: MONDO:0006918 {source="DOID:0111079", source="MESH:C537630/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! posterior uveitis +is_a: MONDO:0006918 {source="DOID:0111079", source="MESH:C537630/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! posterior uveitis is_a: MONDO:0019541 {source="Orphanet:179"} ! non-infectious posterior uveitis property_value: confidence "36.6984126984127" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5926/birdshot-chorioretinopathy xsd:anyURI {source="GARD:0005926"} @@ -225222,7 +227583,7 @@ xref: DOID:0110678 {source="MONDO:equivalentTo"} xref: OMIM:605809 {source="DOID:0110678", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:605809", source="MONDO:subClassOf"} xref: UMLS:C1853949 {source="NCBI:mim2gene_medline", source="OMIM:605809", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:605809"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110678", source="MONDO:Redundant", source="OMIM:605809"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1966 {source="mim2gene_medgen"} ! CHRNE property_value: confidence "3.24884739376658" xsd:double @@ -225234,7 +227595,7 @@ def: "Neonatal intrahepatic cholestasis due to citrin deficiency is a mild subty subset: ordo_disease {source="Orphanet:247598"} synonym: "cholestasis, neonatal intrahepatic, caused by citrin deficiency" RELATED [OMIM:605814] synonym: "citrullinemia, type II, neonatal-onset" RELATED [OMIM:605814] -synonym: "citrullinemia, type Ii, neonatal-onset, with or without failure to thrive and dyslipidemia" RELATED [OMIM:605814] +synonym: "citrullinemia, type II, neonatal-onset, with or without failure to thrive and dyslipidemia" RELATED [OMIM:605814] synonym: "neonatal intrahepatic cholestasis caused by citrin deficiency" EXACT [Orphanet:247598] synonym: "neonatal-onset citrullinemia type 2" RELATED [GARD:0010214] synonym: "neonatal-onset citrullinemia type II" RELATED [GARD:0010214] @@ -225417,8 +227778,10 @@ name: dimethylglycine dehydrogenase deficiency def: "Dimethylglycine dehydrogenase deficiency is an extremely rare autosomal recessive glycine metabolism disorder characterized clinically in the single reported case to date by muscle fatigue and a fish-like odor." [Orphanet:243343] subset: n_of_one {source="Orphanet:243343-textdef"} subset: ordo_disease {source="Orphanet:243343"} +synonym: "dimethylglycine dehydrogenase activity disease" EXACT [MONDO:design_pattern] synonym: "dimethylglycine dehydrogenase deficiency" EXACT [MONDO:Lexical, OMIM:605850] synonym: "dimethylglycine dehydrogenase deficiency; DMGDHD" RELATED [OMIM:605850] +synonym: "disorder of dimethylglycine dehydrogenase activity" EXACT [MONDO:design_pattern] synonym: "DMG dehydrogenase deficiency" EXACT [Orphanet:243343] synonym: "DMGDH deficiency" EXACT [Orphanet:243343] synonym: "Dmgdh deficiency" RELATED [OMIM:605850] @@ -225501,14 +227864,16 @@ synonym: "Parkinson disease 6, autosomal recessive early-onset" RELATED [MONDO:L synonym: "Parkinson disease 6, autosomal recessive early-onset; PARK6" RELATED [OMIM:605909] synonym: "Parkinson disease 6, early-onset" RELATED [OMIM:605909] synonym: "Parkinson disease 6, late-onset, susceptibility to" RELATED [OMIM:605909] +synonym: "Parkinson disease caused by mutation in PINK1" EXACT [MONDO:design_pattern] synonym: "Parkinson disease, autosomal recessive early-onset, digenic, Pink1/Dj1" RELATED [OMIM:605909] +synonym: "PINK1 Parkinson disease" EXACT [MONDO:design_pattern] xref: DOID:0060369 {source="MONDO:equivalentTo"} xref: MESH:C565276 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:605909 {source="MONDO:equivalentTo", source="DOID:0060369"} xref: Orphanet:2828 {source="OMIM:605909", source="MONDO:subClassOf"} xref: UMLS:C1853833 {source="NCBI:mim2gene_medline", source="OMIM:605909"} xref: UMLS:C1970035 {source="OMIM:605909"} -is_a: MONDO:0005180 {source="MESH:C565276", source="MONDO:Redundant", source="OMIM:605909"} ! Parkinson disease +is_a: MONDO:0005180 {source="DOID:0060369/inferred", source="MESH:C565276", source="MONDO:Redundant", source="OMIM:605909"} ! Parkinson disease is_a: MONDO:0017279 {source="DOID:0060369", source="MONDOLEX:0011613"} ! young-onset Parkinson disease intersection_of: MONDO:0005180 ! Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14581 ! PINK1 @@ -225777,7 +228142,7 @@ xref: SCTID:69080001 {source="DOID:14701"} xref: UMLS:C0268579 {source="NCBI:mim2gene_medline", source="Orphanet:35", source="OMIM:606054", source="DOID:14701", source="ORDO:35/e", source="MONDO:equivalentTo", source="NCIT:C85030"} xref: UMLS:C0311298 {source="Orphanet:35", source="ORDO:35/e"} xref: UMLS:C2717876 {source="Orphanet:35", source="DOID:14701"} -is_a: MONDO:0000688 {source="MONDO:Redundant", source="NCIT:C85030", source="Orphanet:35/inferred"} ! inherited organic acidemia +is_a: MONDO:0000688 {source="DOID:14701", source="MONDO:Redundant", source="NCIT:C85030", source="Orphanet:35/inferred"} ! inherited organic acidemia is_a: MONDO:0019215 {source="Orphanet:35"} ! classic organic aciduria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8653 {source="mim2gene_medgen"} ! PCCA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8654 {source="mim2gene_medgen"} ! PCCB @@ -225791,7 +228156,7 @@ def: "(2p13.1)." [Orphanet:79330] subset: ordo_disease {source="Orphanet:79330"} synonym: "carbohydrate deficient glycoprotein syndrome type IIb" EXACT [Orphanet:79330] synonym: "CDG 2B" RELATED [GARD:0010767] -synonym: "CDG Iib" RELATED [OMIM:606056] +synonym: "CDG IIb" RELATED [OMIM:606056] synonym: "CDG syndrome type IIb" EXACT [Orphanet:79330] synonym: "CDG-IIb" EXACT [Orphanet:79330] synonym: "CDG2B" EXACT [MONDO:Lexical, OMIM:606056, Orphanet:79330] @@ -225821,8 +228186,10 @@ id: MONDO:0011630 name: retinitis pigmentosa 28 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FAM161A gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010394"} +synonym: "FAM161A retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 28" EXACT [MONDO:Lexical, OMIM:606068] synonym: "retinitis pigmentosa 28; RP28" RELATED [OMIM:606068] +synonym: "retinitis pigmentosa caused by mutation in FAM161A" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 28" EXACT [DOID:0110365, MONDORULE:2, OMIM:606068] synonym: "RP 28" RELATED [GARD:0010394] synonym: "RP28" EXACT [DOID:0110365, MONDO:Lexical, OMIM:606068] @@ -225851,7 +228218,9 @@ synonym: "hemochromatosis due to defect in ferroportin" EXACT [DOID:0111028, Orp synonym: "hemochromatosis, autosomal dominant" RELATED [OMIM:606069] synonym: "hemochromatosis, type 4" RELATED [MONDO:Lexical, OMIM:606069] synonym: "hemochromatosis, type 4; HFE4" RELATED [OMIM:606069] +synonym: "hereditary hemochromatosis caused by mutation in SLC40A1" EXACT [MONDO:design_pattern] synonym: "HFE4" EXACT [DOID:0111028, MONDO:Lexical, OMIM:606069] +synonym: "SLC40A1 hereditary hemochromatosis" EXACT [MONDO:design_pattern] xref: DOID:0111028 {source="MONDO:equivalentTo"} xref: GARD:0010094 {source="MONDO:equivalentTo"} xref: ICD10:E83.1 {source="Orphanet:139491", source="ORDO:139491/ntbt", source="DOID:0111028", source="ORDO:139491/attributed", source="MONDO:subClassOf"} @@ -225860,7 +228229,7 @@ xref: OMIM:606069 {source="Orphanet:139491", source="ORDO:139491/e", source="DOI xref: Orphanet:139491 {source="DOID:0111028", source="OMIM:606069", source="MONDO:equivalentTo"} xref: SCTID:719975002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1853733 {source="Orphanet:139491", source="ORDO:139491/e", source="NCBI:mim2gene_medline", source="DOID:0111028", source="OMIM:606069", source="MONDO:equivalentTo"} -is_a: MONDO:0006507 {source="MESH:C537249", source="MONDO:Redundant", source="OMIM:606069", source="linkedlifedata"} ! hereditary hemochromatosis +is_a: MONDO:0006507 {source="DOID:0111028", source="MESH:C537249", source="MONDO:Redundant", source="OMIM:606069", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary hemochromatosis is_a: MONDO:0016363 {source="Orphanet:139491", source="linkedlifedata"} ! rare hereditary hemochromatosis intersection_of: MONDO:0006507 ! hereditary hemochromatosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10909 ! SLC40A1 @@ -225875,7 +228244,9 @@ def: "Any amyotrophic lateral sclerosis in which the cause of the disease is a m synonym: "ALS21" EXACT [DOID:0060212, MONDO:Lexical, OMIM:606070] synonym: "amyotrophic lateral sclerosis 21" RELATED [MONDO:Lexical, OMIM:606070] synonym: "amyotrophic lateral sclerosis 21; ALS21" RELATED [OMIM:606070] +synonym: "amyotrophic lateral sclerosis caused by mutation in MATR3" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 21" EXACT [MONDORULE:2, OMIM:606070] +synonym: "MATR3 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] synonym: "Myopathy, distal, 2" RELATED [OMIM:606070] synonym: "Myopathy, distal, 2, formerly" RELATED [OMIM:606070] synonym: "vocal cord and pharyngeal dysfunction with distal Myopathy" RELATED [OMIM:606070] @@ -225901,6 +228272,7 @@ subset: ordo_disease {source="Orphanet:99937"} synonym: "autosomal cominant axonal Charcot-Marie-Tooth disease type 2C" EXACT [DOID:0110182] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2C" EXACT [DOID:0110182] synonym: "Charcot Marie Tooth disease type 2C" RELATED [GARD:0001250] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in TRPV4" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2C" RELATED [GARD:0001250] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2C" RELATED [OMIM:606071] synonym: "Charcot-Marie-Tooth disease, axonal, type 2C" RELATED [GARD:0001250] @@ -225916,6 +228288,7 @@ synonym: "hereditary motor and sensory neuropathy, type IIC; HMSN2C" RELATED [OM synonym: "HMSN 2 C" RELATED [GARD:0001250] synonym: "HMSN 2C" RELATED [OMIM:606071] synonym: "HMSN2C" EXACT [DOID:0110182, MONDO:Lexical, OMIM:606071] +synonym: "TRPV4 Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110182 {source="MONDO:equivalentTo"} xref: GARD:0001250 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="ORDO:99937/attributed", source="ORDO:99937/ntbt", source="DOID:0110182", source="Orphanet:99937"} @@ -225925,7 +228298,7 @@ xref: SCTID:717010007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C1853710 {source="OMIM:606071", source="Orphanet:99937"} xref: UMLS:C2079540 {source="GARD:0001250", source="NCBI:mim2gene_medline"} is_a: MONDO:0002316 {source="DC-OMIM:606071", source="MONDOLEX:0011633", source="linkedlifedata"} ! motor peripheral neuropathy -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:606071", source="Orphanet:99937/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110182/inferred", source="MONDO:Redundant", source="OMIM:606071", source="Orphanet:99937/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110182", source="Orphanet:99937"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18083 ! TRPV4 @@ -226040,6 +228413,8 @@ comment: Not in the OMIM series 105650. {source="OMIM:606164"} synonym: "DBA15" RELATED [MONDO:Lexical, OMIM:606164] synonym: "Diamond-Blackfan anemia 15 with mandibulofacial dysostosis" EXACT [MONDO:Lexical, OMIM:606164] synonym: "DIAMOND-Blackfan ANEMIA 15 with mandibulofacial dysostosis; DBA15" RELATED [OMIM:606164] +synonym: "Diamond-Blackfan anemia caused by mutation in RPS28" EXACT [MONDO:design_pattern] +synonym: "RPS28 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: OMIM:606164 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="MONDO:subClassOf", source="OMIM:606164"} xref: UMLS:C1853576 {source="NCBI:mim2gene_medline", source="OMIM:606164", source="MONDO:equivalentTo"} @@ -226104,7 +228479,7 @@ xref: OMIM:606175 {source="MONDO:equivalentTo"} xref: SCTID:124257002 {source="MONDO:kboom-pr-0.76/0.38/0.71", source="MONDO:equivalentTo"} xref: UMLS:C1443228 {source="NCBI:mim2gene_medline", source="OMIM:606175", source="MONDO:equivalentTo"} xref: UMLS:CN035113 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MESH:C563249/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C563249/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease relationship: disease_has_basis_in_disruption_of GO:0004092 ! carnitine O-acetyltransferase activity property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8602/acetyl-carnitine-deficiency xsd:anyURI {source="GARD:0008602"} @@ -226168,7 +228543,7 @@ xref: SCTID:314428001 {source="MONDO:kboom-pr-0.92/0.84/0.20", source="MONDO:equ xref: SCTID:45688009 {source="EFO:1001088", source="DOID:12731"} xref: UMLS:C0030593 {source="NCBI:mim2gene_medline", source="NCIT:C34903", source="MONDO:equivalentTo", source="OMIM:606177", source="DOID:12731"} is_a: MONDO:0004674 {source="DOID:12731"} ! chorioretinitis (disease) -is_a: MONDO:0006806 {source="DOID:12731", source="EFO:1001088", source="MESH:D015868", source="linkedlifedata"} ! intermediate uveitis (disease) +is_a: MONDO:0006806 {source="DOID:12731", source="EFO:1001088", source="MESH:D015868", source="linkedlifedata", source="linkedlifedata/inferred"} ! intermediate uveitis (disease) is_a: MONDO:0015107 {source="OWLReasoner:2017"} ! rare genetic eye disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0034936 ! pars plana of ciliary body @@ -226254,11 +228629,13 @@ property_value: confidence "0.0" xsd:double id: MONDO:0011650 name: atrioventricular septal defect, susceptibility to, 2 def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the CRELD1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "atrioventricular septal defect caused by mutation in CRELD1" EXACT [MONDO:design_pattern] synonym: "Atrioventricular septal defect, partial, with heterotaxy syndrome" RELATED [OMIM:606217] synonym: "atrioventricular septal defect, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:606217] synonym: "ATRIOVENTRICULAR septal defect, susceptibility to, 2; AVSD2" RELATED [OMIM:606217] synonym: "Atrioventricular septal defect, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:606217] synonym: "AVSD2" RELATED [MONDO:Lexical, OMIM:606217] +synonym: "CRELD1 atrioventricular septal defect" EXACT [MONDO:design_pattern] synonym: "susceptibility to atrioventricular septal defect 2" RELATED [OMIM:606217] xref: MESH:C565249 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:606217 {source="MONDO:equivalentTo"} @@ -226329,7 +228706,7 @@ property_value: confidence "1.198067632850242" xsd:double id: MONDO:0011654 name: intellectual disability, microcephaly, growth retardation, joint contractures, and facial dysmorphism synonym: "Kondoh syndrome" RELATED [OMIM:606242] -synonym: "mental retardation, microcephaly, GROWTH retardation, JOINT contractures, and facial DYSMORPHISM" RELATED [OMIM:606242] +synonym: "mental retardation, microcephaly, GROWTH retardation, JOINT contractures, and facial dysmorphism" RELATED [OMIM:606242] xref: MESH:C565246 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:606242 {source="MONDO:equivalentTo"} xref: UMLS:C1853480 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:606242"} @@ -226420,14 +228797,16 @@ def: "Any Parkinson disease in which the cause of the disease is a mutation in t synonym: "autosomal recessive early-onset Parkinson disease type 7" EXACT [DOID:0060370, MONDORULE:1] synonym: "autosomal recessive early-onset Parkinson's disease 7" RELATED [DOID:0060370] synonym: "PARK7" RELATED [MONDO:Lexical, OMIM:606324] +synonym: "PARK7 Parkinson disease" EXACT [MONDO:design_pattern] synonym: "Parkinson disease 7, autosomal recessive early-onset" RELATED [MONDO:Lexical, OMIM:606324] synonym: "Parkinson disease 7, autosomal recessive early-onset; PARK7" RELATED [OMIM:606324] +synonym: "Parkinson disease caused by mutation in PARK7" EXACT [MONDO:design_pattern] xref: DOID:0060370 {source="MONDO:equivalentTo"} xref: MESH:C565238 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:606324 {source="DOID:0060370", source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="OMIM:606324", source="MONDO:subClassOf"} xref: UMLS:C1853445 {source="NCBI:mim2gene_medline", source="OMIM:606324", source="MONDO:equivalentTo"} -is_a: MONDO:0005180 {source="MESH:C565238", source="MONDO:Redundant", source="OMIM:606324"} ! Parkinson disease +is_a: MONDO:0005180 {source="DOID:0060370/inferred", source="MESH:C565238", source="MONDO:Redundant", source="OMIM:606324"} ! Parkinson disease is_a: MONDO:0017279 {source="DOID:0060370", source="MONDOLEX:0011658"} ! young-onset Parkinson disease intersection_of: MONDO:0005180 ! Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16369 ! PARK7 @@ -226453,6 +228832,7 @@ id: MONDO:0011660 name: autosomal dominant nonsyndromic deafness 22 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 22" EXACT [DOID:0110552] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO6" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 22" EXACT [DOID:0110552, MONDORULE:2] synonym: "deafness, autosomal dominant 22" RELATED [MONDO:Lexical, OMIM:606346] synonym: "deafness, autosomal dominant 22, with hypertrophic cardiomyopathy" RELATED [OMIM:606346] @@ -226461,6 +228841,7 @@ synonym: "deafness, autosomal dominant nonsyndromic sensorineural 22" RELATED [G synonym: "deafness, autosomal dominant type 22" EXACT [MONDORULE:2, OMIM:606346] synonym: "DFNA 22" RELATED [GARD:0009167] synonym: "DFNA22" EXACT [DOID:0110552, MONDO:Lexical, OMIM:606346] +synonym: "MYO6 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110552 {source="MONDO:equivalentTo"} xref: GARD:0009167 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110552"} @@ -226753,6 +229134,7 @@ name: Charcot-Marie-tooth disease dominant intermediate b def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type B is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 45 m/s) and signs of both demyelination and axonal degeneration in nerve biopsies. It presents with mild to moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, and feet deformities). Other findings include asymptomatic neutropenia and early-onset cataracts." [Orphanet:100044] subset: ordo_disease {source="Orphanet:100044"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type B" RELATED [Orphanet:100044] +synonym: "Charcot-Marie-tooth disease caused by mutation in DNM2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease dominant intermediate type B" EXACT [DOID:0110197, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2M" RELATED [OMIM:606482] synonym: "Charcot-Marie-Tooth disease, axonal, type 2M" RELATED [OMIM:606482] @@ -226769,6 +229151,7 @@ synonym: "Cmtdi1" RELATED [OMIM:606482] synonym: "CMTDIB" EXACT [DOID:0110197, MONDO:Lexical, OMIM:606482, Orphanet:100044] synonym: "DI-CMTB" EXACT [DOID:0110197] synonym: "Di-CMTB" RELATED [OMIM:606482] +synonym: "DNM2 Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] synonym: "DNM2-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012438] xref: DOID:0110197 {source="MONDO:equivalentTo"} xref: GARD:0012438 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -226779,7 +229162,7 @@ xref: Orphanet:228179 {source="OMIM:606482", source="MONDO:superClassOf"} xref: UMLS:C1847902 {source="NCBI:mim2gene_medline", source="Orphanet:100044", source="OMIM:606482"} xref: UMLS:C1847903 {source="OMIM:606482"} xref: UMLS:CN197338 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:606482", source="Orphanet:100044/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110197/inferred", source="MONDO:Redundant", source="OMIM:606482", source="Orphanet:100044/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0019548 {source="MONDOLEX:0011674", source="Orphanet:100044"} ! autosomal dominant intermediate Charcot-Marie-tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2974 ! DNM2 @@ -226807,7 +229190,7 @@ xref: MESH:C564702 {source="MONDO:equivalentTo"} xref: OMIM:606483 {source="ORDO:100043/e", source="DOID:0110202", source="Orphanet:100043", source="MONDO:equivalentTo"} xref: Orphanet:100043 {source="DOID:0110202", source="OMIM:606483", source="MONDO:equivalentTo"} xref: UMLS:C1847896 {source="NCBI:mim2gene_medline", source="Orphanet:100043", source="MEDGEN:kboom-pr98-c99", source="OMIM:606483", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:606483", source="Orphanet:100043/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110202/inferred", source="MESH:C564702", source="MONDO:Redundant", source="OMIM:606483", source="Orphanet:100043/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0019548 {source="MONDOLEX:0011675", source="Orphanet:100043"} ! autosomal dominant intermediate Charcot-Marie-tooth disease property_value: confidence "38.35185185185186" xsd:double @@ -226868,7 +229251,9 @@ is_a: MONDO:0000761 {source="DC-OMIM:606528"} ! syndrome caused by partial chrom id: MONDO:0011679 name: craniosynostosis syndrome, autosomal recessive def: "Autosomal recessive form of craniosynostosis." [MONDO:patterns/autosomal_recessive] +synonym: "autosomal recessive craniosynostosis" EXACT [MONDO:design_pattern] synonym: "craniosynostosis syndrome, autosomal recessive" EXACT [OMIM:606529] +synonym: "craniosynostosis, autosomal recessive" EXACT [MONDO:design_pattern] xref: MESH:C564700 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:606529 {source="MONDO:equivalentTo"} xref: UMLS:C1847865 {source="NCBI:mim2gene_medline", source="OMIM:606529", source="MONDO:equivalentTo"} @@ -226924,7 +229309,7 @@ xref: OMIM:606552 {source="Orphanet:79136", source="ORDO:79136/e", source="DOID: xref: Orphanet:79136 {source="OMIM:606552", source="MONDO:equivalentTo"} xref: SCTID:718754008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1847843 {source="NCBI:mim2gene_medline", source="Orphanet:79136", source="OMIM:606552", source="MONDO:equivalentTo"} -is_a: MONDO:0016227 {source="OMIM:606552", source="Orphanet:79136", source="linkedlifedata"} ! hereditary episodic ataxia +is_a: MONDO:0016227 {source="DOID:0050992", source="OMIM:606552", source="Orphanet:79136", source="linkedlifedata"} ! hereditary episodic ataxia property_value: confidence "1.3333333333333335" xsd:double [Term] @@ -226944,7 +229329,7 @@ xref: OMIM:606554 {source="ORDO:79135/e", source="Orphanet:79135", source="DOID: xref: Orphanet:79135 {source="OMIM:606554", source="MONDO:equivalentTo"} xref: SCTID:718755009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1847839 {source="NCBI:mim2gene_medline", source="Orphanet:79135", source="OMIM:606554", source="MONDO:equivalentTo"} -is_a: MONDO:0016227 {source="OMIM:606554", source="Orphanet:79135", source="linkedlifedata"} ! hereditary episodic ataxia +is_a: MONDO:0016227 {source="DOID:0050991", source="OMIM:606554", source="Orphanet:79135", source="linkedlifedata"} ! hereditary episodic ataxia property_value: confidence "1.333333333333333" xsd:double [Term] @@ -226956,8 +229341,10 @@ synonym: "albinism, oculocutaneous, type 4" RELATED [OMIM:606574] synonym: "albinism, oculocutaneous, type IV" RELATED [MONDO:Lexical, OMIM:606574] synonym: "albinism, oculocutaneous, type IV; OCA4" RELATED [OMIM:606574] synonym: "OCA4" EXACT [DOID:0070098, MONDO:Lexical, OMIM:606574, Orphanet:79435] +synonym: "oculocutaneous albinism caused by mutation in SLC45A2" EXACT [MONDO:design_pattern] synonym: "oculocutaneous albinism type IV" RELATED [DOID:0070098] synonym: "oculocutaneous albinism, type 4" RELATED [OMIM:606574] +synonym: "SLC45A2 oculocutaneous albinism" EXACT [MONDO:design_pattern] xref: DOID:0070098 {source="MONDO:equivalentTo"} xref: ICD10:E70.3 {source="Orphanet:79435", source="ORDO:79435/attributed", source="ORDO:79435/ntbt", source="MONDO:subClassOf"} xref: MESH:C564696 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -227042,6 +229429,7 @@ subset: gard_rare subset: ordo_disease {source="Orphanet:99940"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2F" EXACT [DOID:0110163] synonym: "Charcot Marie Tooth disease type 2F" RELATED [GARD:0009194] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in HSPB1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2F" RELATED [GARD:0009194] synonym: "Charcot-Marie-Tooth disease, axonal, type 2F" RELATED [GARD:0009194, MONDO:Lexical, OMIM:606595] synonym: "Charcot-Marie-Tooth disease, axonal, type 2F; CMT2F" RELATED [OMIM:606595] @@ -227051,6 +229439,7 @@ synonym: "Charcot-Marie-Tooth neuropathy type 2F" EXACT [DOID:0110163] synonym: "Charcot-Marie-Tooth neuropathy, type 2F" RELATED [GARD:0009194, OMIM:606595] synonym: "CMT 2F" RELATED [GARD:0009194] synonym: "CMT2F" EXACT [DOID:0110163, MONDO:Lexical, OMIM:606595, Orphanet:99940] +synonym: "HSPB1 Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110163 {source="MONDO:equivalentTo"} xref: GARD:0009194 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="DOID:0110163", source="ORDO:99940/attributed", source="Orphanet:99940", source="ORDO:99940/ntbt"} @@ -227060,7 +229449,7 @@ xref: Orphanet:99940 {source="DOID:0110163", source="GARD:0009194", source="MOND xref: SCTID:719510006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1847823 {source="GARD:0009194", source="NCBI:mim2gene_medline", source="Orphanet:99940", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:606595"} xref: UMLS:C4304675 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C535413", source="MONDO:Redundant", source="OMIM:606595", source="Orphanet:99940/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110163/inferred", source="MESH:C535413", source="MONDO:Redundant", source="OMIM:606595", source="Orphanet:99940/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110163", source="Orphanet:99940"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5246 ! HSPB1 @@ -227240,7 +229629,7 @@ xref: OMIM:606662 {source="DOID:0110951", source="MONDO:equivalentTo"} xref: Orphanet:3440 {source="OMIM:606662", source="MONDO:subClassOf"} xref: Orphanet:895 {source="OMIM:606662", source="MONDO:subClassOf"} xref: UMLS:C1847722 {source="NCBI:mim2gene_medline", source="OMIM:606662", source="MONDO:equivalentTo"} -is_a: MONDO:0018094 {source="MONDO:Redundant", source="OMIM:606662"} ! Waardenburg syndrome +is_a: MONDO:0018094 {source="DOID:0110951", source="MONDO:Redundant", source="OMIM:606662"} ! Waardenburg syndrome is_a: MONDO:0019517 {source="MONDO:cjm", source="MONDOLEX:0011697"} ! Waardenburg syndrome type 2 property_value: confidence "0.058201058201058364" xsd:double @@ -227262,7 +229651,7 @@ xref: ICD10:E72.1 {source="ORDO:289891/attributed", source="ORDO:289891/ntbt", s xref: OMIM:606664 {source="ORDO:289891/e", source="DOID:0111037", source="Orphanet:289891", source="MONDO:equivalentTo"} xref: Orphanet:289891 {source="DOID:0111037", source="OMIM:606664", source="MONDO:equivalentTo"} xref: UMLS:C1847720 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr87-c94", source="OMIM:606664", source="Orphanet:289891", source="MONDO:equivalentTo"} -is_a: MONDO:0000351 {source="DOID:0111037"} ! hypermethioninemia (disease) +is_a: MONDO:0000351 {source="DOID:0111037"} ! disorder of methionine catabolism is_a: MONDO:0019222 {source="Orphanet:289891"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4415 {source="mim2gene_medgen"} ! GNMT property_value: confidence "17.888888888888893" xsd:double @@ -227325,6 +229714,8 @@ synonym: "cardiomyopathy, dilated, 1L; CMD1L" RELATED [OMIM:606685] synonym: "cardiomyopathy, dilated, type 1L" EXACT [MONDORULE:4, OMIM:606685] synonym: "CMD1L" EXACT [DOID:0110436, MONDO:Lexical, OMIM:606685] synonym: "dilated cardiomyopathy type 1L" EXACT [DOID:0110436, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in SGCD" EXACT [MONDO:design_pattern] +synonym: "SGCD familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110436 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110436", source="MONDO:subClassOf"} xref: MESH:C564679 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -227360,6 +229751,7 @@ xref: UMLS:C1415091 {source="OMIM:606689"} xref: UMLS:C1847649 {source="NCBI:mim2gene_medline"} is_a: MONDO:0003847 {source="MONDO:Redundant"} ! inherited genetic disease is_a: MONDO:0005338 {source="OMIM:606689"} ! open-angle glaucoma +is_a: MONDO:0020366 ! congenital glaucoma property_value: confidence "0.6519518666964457" xsd:double [Term] @@ -227413,7 +229805,7 @@ xref: Orphanet:314632 {source="MONDO:superClassOf", source="OMIM:606693"} xref: UMLS:C1847640 {source="NCBI:mim2gene_medline", source="ORDO:306674/e", source="DOID:0060556", source="OMIM:606693", source="Orphanet:306674"} xref: UMLS:C3715048 {source="OMIM:606693"} is_a: MONDO:0000828 {source="DOID:0060556"} ! juvenile-onset Parkinson disease -is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:606693"} ! Parkinson disease +is_a: MONDO:0005180 {source="DOID:0060556/inferred", source="MONDO:Redundant", source="OMIM:606693"} ! Parkinson disease is_a: MONDO:0017635 {source="MONDO:Redundant", source="Orphanet:306674"} ! rare parkinsonian syndrome due to neurodegenerative disease is_a: MONDO:0017661 {source="Orphanet:306674"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease is_a: MONDO:0018307 {source="Orphanet:306674"} ! neurodegeneration with brain iron accumulation @@ -227445,11 +229837,13 @@ name: autosomal dominant nonsyndromic deafness 36 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TMC1 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "autosomal dominant deafness 36" EXACT [DOID:0110563] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TMC1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 36" EXACT [DOID:0110563, MONDORULE:2] synonym: "deafness, autosomal dominant 36" RELATED [MONDO:Lexical, OMIM:606705] synonym: "deafness, autosomal dominant 36; DFNA36" RELATED [OMIM:606705] synonym: "deafness, autosomal dominant type 36" EXACT [MONDORULE:2, OMIM:606705] synonym: "DFNA36" EXACT [DOID:0110563, MONDO:Lexical, OMIM:606705] +synonym: "TMC1 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110563 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110563"} xref: MESH:C564675 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -227509,8 +229903,10 @@ id: MONDO:0011712 name: van der Woude syndrome 2 def: "Any van der Woude syndrome in which the cause of the disease is a mutation in the GRHL3 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0007846"} +synonym: "GRHL3 van der Woude syndrome" EXACT [MONDO:design_pattern] synonym: "van der Woude syndrome 2" EXACT [MONDO:Lexical, OMIM:606713] synonym: "VAN DER Woude syndrome 2; VWS2" RELATED [OMIM:606713] +synonym: "van der Woude syndrome caused by mutation in GRHL3" EXACT [MONDO:design_pattern] synonym: "Van Der Woude syndrome type 2" EXACT [MONDORULE:1, OMIM:606713] synonym: "VWS2" RELATED [MONDO:Lexical, OMIM:606713] xref: GARD:0007846 {source="MONDO:equivalentTo"} @@ -227556,10 +229952,12 @@ name: Seckel syndrome 2 def: "Any Seckel syndrome in which the cause of the disease is a mutation in the RBBP8 gene." [MONDO:patterns/disease_series_by_gene] synonym: "microcephalic primordial dwarfism 2" EXACT [DOID:0070013] synonym: "microcephalic primordial dwarfism 2" RELATED [OMIM:606744] +synonym: "RBBP8 Seckel syndrome" EXACT [MONDO:design_pattern] synonym: "SCKL2" EXACT [DOID:0070013] synonym: "SCKL2" RELATED [MONDO:Lexical, OMIM:606744] synonym: "Seckel syndrome 2" EXACT [MONDO:Lexical, OMIM:606744] synonym: "Seckel syndrome 2; SCKL2" RELATED [OMIM:606744] +synonym: "Seckel syndrome caused by mutation in RBBP8" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 2" EXACT [MONDORULE:1, OMIM:606744] synonym: "Seckel-type dwarfism 2" EXACT [DOID:0070013, OMIM:606744] xref: DOID:0070013 {source="MONDO:equivalentTo"} @@ -227597,7 +229995,7 @@ xref: SCTID:72986009 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:1099 xref: UMLS:C0014077 {source="NCBI:mim2gene_medline", source="NCIT:C84535", source="OMIM:606752", source="DOID:10992", source="MONDO:equivalentTo"} is_a: MONDO:0003337 {source="NCIT:C84535"} ! acute hemorrhagic encephalitis is_a: MONDO:0015955 {source="OWLReasoner:2017"} ! rare genetic epilepsy -is_a: MONDO:0019383 {source="DOID:10992", source="MESH:D004684", source="linkedlifedata"} ! acute disseminated encephalomyelitis +is_a: MONDO:0019383 {source="DOID:10992", source="MESH:D004684", source="linkedlifedata", source="linkedlifedata/inferred"} ! acute disseminated encephalomyelitis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8629/acute-hemorrhagic-leukoencephalitis xsd:anyURI {source="GARD:0008629"} [Term] @@ -227639,7 +230037,9 @@ synonym: "ciliary dyskinesia, primary, 2" RELATED [MONDO:Lexical, OMIM:606763] synonym: "ciliary dyskinesia, primary, 2, with or without situs inversus" RELATED [OMIM:606763] synonym: "ciliary dyskinesia, primary, 2; CILD2" RELATED [OMIM:606763] synonym: "ciliary dyskinesia, primary, type 2" EXACT [MONDORULE:1, OMIM:606763] +synonym: "DNAAF3 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 2 with or without situs inversus" EXACT [DOID:0110626] +synonym: "primary ciliary dyskinesia caused by mutation in DNAAF3" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 2" EXACT [DOID:0110626, MONDORULE:1] xref: DOID:0110626 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110626"} @@ -227692,6 +230092,8 @@ property_value: confidence "4.277777777777779" xsd:double id: MONDO:0011720 name: spermatogenic failure 3 def: "Any azoospermia in which the cause of the disease is a mutation in the SLC26A8 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "azoospermia caused by mutation in SLC26A8" EXACT [MONDO:design_pattern] +synonym: "SLC26A8 azoospermia" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 3" EXACT [MONDO:Lexical, OMIM:606766] synonym: "spermatogenic failure 3; SPGF3" RELATED [OMIM:606766] synonym: "spermatogenic failure type 3" EXACT [MONDORULE:1, OMIM:606766] @@ -227700,7 +230102,7 @@ xref: MESH:C564665 {source="MONDO:equivalentTo"} xref: OMIM:606766 {source="MONDO:equivalentTo"} xref: Orphanet:276234 {source="OMIM:606766", source="MONDO:subClassOf"} xref: UMLS:C1847540 {source="NCBI:mim2gene_medline", source="OMIM:606766", source="MONDO:equivalentTo"} -is_a: MONDO:0004983 {source="DC-OMIM:606766", source="OMIM:606766"} ! azoospermia +is_a: MONDO:0004983 {source="DC-OMIM:606766", source="MESH:C564665", source="OMIM:606766"} ! azoospermia is_a: MONDO:0017173 {source="ORDO:276234/btnt"} ! non-syndromic male infertility due to sperm motility disorder intersection_of: MONDO:0004983 ! azoospermia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14468 ! SLC26A8 @@ -228005,9 +230407,11 @@ def: "a form of Hyper IgM syndrome characterized by mutations of the CD40 gene. subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:101090"} synonym: "CD40 deficiency" RELATED [DOID:0060023] +synonym: "CD40 hyper-IgM syndrome" EXACT [MONDO:design_pattern] synonym: "HIGM3" EXACT [GARD:0010579, MONDO:Lexical, OMIM:606843, Orphanet:101090] synonym: "hyper IgM syndrome 3" RELATED [GARD:0010579] synonym: "hyper-IgM syndrome 3" RELATED [OMIM:606843] +synonym: "hyper-IgM syndrome caused by mutation in CD40" EXACT [MONDO:design_pattern] synonym: "hyper-IgM syndrome due to CD40 deficiency" EXACT [DOID:0060023, Orphanet:101090] synonym: "immunodeficiency with hyper IgM type 3" RELATED [GARD:0010579] synonym: "immunodeficiency with hyper-IgM type 3" EXACT [DOID:0060023] @@ -228079,6 +230483,8 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10784/bilater id: MONDO:0011739 name: pancreatic cancer, susceptibility to, 1 def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALLD gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial pancreatic carcinoma caused by mutation in PALLD" EXACT [MONDO:design_pattern] +synonym: "PALLD familial pancreatic carcinoma" EXACT [MONDO:design_pattern] synonym: "pancreatic cancer, susceptibility to, 1" EXACT [OMIM:606856] synonym: "pancreatic cancer, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:606856] synonym: "Pnca1" RELATED [OMIM:606856] @@ -228161,7 +230567,7 @@ xref: MESH:C536596 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C123413 {source="MONDO:equivalentTo"} xref: OMIM:606889 {source="DOID:0110040", source="MONDO:equivalentTo"} xref: UMLS:C1847200 {source="NCBI:mim2gene_medline", source="OMIM:606889", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004975 {source="NCIT:C123413"} ! Alzheimer disease +is_a: MONDO:0004975 {source="DOID:0110040", source="MESH:C536596", source="NCIT:C123413"} ! Alzheimer disease is_a: MONDO:0015140 {source="ORDO:1020/btnt", source="https://www.ncbi.nlm.nih.gov/books/NBK1236/"} ! early-onset autosomal dominant Alzheimer disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/613 {source="mim2gene_medgen"} ! APOE relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9509 {source="mim2gene_medgen"} ! PSEN2 @@ -228229,6 +230635,8 @@ id: MONDO:0011748 name: Usher syndrome type 1G def: "Any Usher syndrome in which the cause of the disease is a mutation in the USH1G gene." [MONDO:patterns/disease_series_by_gene] synonym: "USH1G" EXACT [DOID:0110834, MONDO:Lexical, OMIM:606943] +synonym: "USH1G Usher syndrome" EXACT [MONDO:design_pattern] +synonym: "Usher syndrome caused by mutation in USH1G" EXACT [MONDO:design_pattern] synonym: "Usher syndrome type Ig" EXACT [DOID:0110834] synonym: "Usher syndrome, type 1G" RELATED [OMIM:606943] synonym: "USHER syndrome, type Ig" RELATED [MONDO:Lexical, OMIM:606943] @@ -228241,7 +230649,7 @@ xref: Orphanet:231169 {source="OMIM:606943", source="MONDO:subClassOf"} xref: Orphanet:886 {source="OMIM:606943", source="MONDO:subClassOf"} xref: UMLS:C1847089 {source="NCBI:mim2gene_medline", source="OMIM:606943", source="MONDO:equivalentTo"} is_a: MONDO:0010168 {source="DOID:0110834", source="MONDOLEX:0011748"} ! Usher syndrome type 1 -is_a: MONDO:0019501 {source="MESH:C564643", source="MONDO:Redundant", source="OMIM:606943"} ! Usher syndrome +is_a: MONDO:0019501 {source="DOID:0110834/inferred", source="MESH:C564643", source="MONDO:Redundant", source="OMIM:606943"} ! Usher syndrome intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16356 ! USH1G relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16356 {source="mim2gene_medgen"} ! USH1G @@ -228383,8 +230791,10 @@ is_a: MONDO:0017842 {source="DC-OMIM:606995", source="OMIM:606995"} ! Senior-Lok id: MONDO:0011756 name: Senior-Loken syndrome 4 def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the NPHP4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "NPHP4 Senior-Loken syndrome" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome 4" EXACT [MONDO:Lexical, OMIM:606996] synonym: "SENIOR-Loken syndrome 4; SLSN4" RELATED [OMIM:606996] +synonym: "Senior-Loken syndrome caused by mutation in NPHP4" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome type 4" EXACT [MONDORULE:1, OMIM:606996] synonym: "SLSN4" RELATED [MONDO:Lexical, OMIM:606996] xref: MESH:C537581 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -228432,9 +230842,9 @@ xref: OMIM:607014 {source="Orphanet:93473", source="ORDO:93473/e", source="MONDO xref: Orphanet:579 {source="OMIM:607014", source="MONDO:subClassOf"} xref: Orphanet:93473 {source="OMIM:607014", source="MONDO:equivalentTo"} xref: UMLS:C0086795 {source="NCBI:mim2gene_medline", source="Orphanet:93473", source="OMIM:607014", source="NCIT:C61261"} -is_a: MONDO:0001586 {source="MONDOLEX:0011758", source="Orphanet:93473"} ! mucopolysaccharidosis type 1 +is_a: MONDO:0001586 {source="MONDOLEX:0011758", source="NCIT:C61261", source="Orphanet:93473"} ! mucopolysaccharidosis type 1 is_a: MONDO:0002254 {source="NCIT:C61261"} ! syndromic disease -is_a: MONDO:0002561 {source="PMID:21723623"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="NCIT:C61261/inferred", source="Orphanet:93473/inferred", source="PMID:21723623"} ! lysosomal storage disease is_a: MONDO:0016326 {source="Orphanet:93473"} ! lysosomal disease with hypertrophic cardiomyopathy is_a: MONDO:0016341 {source="Orphanet:93473"} ! lysosomal disease with restrictive cardiomyopathy relationship: disease_has_basis_in_disruption_of GO:0003940 ! L-iduronidase activity @@ -228471,7 +230881,7 @@ xref: Orphanet:579 {source="MONDO:subClassOf", source="OMIM:607015"} xref: Orphanet:93476 {source="OMIM:607015", source="MONDO:equivalentTo"} xref: SCTID:73123008 {source="MONDO:equivalentTo"} xref: UMLS:C0086431 {source="Orphanet:93476", source="NCBI:mim2gene_medline", source="ORDO:93476/e", source="NCIT:C122782", source="OMIM:607015", source="MONDO:equivalentTo"} -is_a: MONDO:0001586 {source="MONDOLEX:0011759", source="Orphanet:93476"} ! mucopolysaccharidosis type 1 +is_a: MONDO:0001586 {source="MONDOLEX:0011759", source="NCIT:C122782", source="Orphanet:93476", source="linkedlifedata"} ! mucopolysaccharidosis type 1 is_a: MONDO:0002254 {source="NCIT:C122782"} ! syndromic disease is_a: MONDO:0016326 {source="Orphanet:93476"} ! lysosomal disease with hypertrophic cardiomyopathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5391 {source="mim2gene_medgen"} ! IDUA @@ -228484,8 +230894,8 @@ def: "Scheie syndrome is the mildest form of mucopolysaccharidosis type 1 (MPS1; subset: gard_rare {source="GARD:0012561"} subset: ordo_clinical_subtype {source="Orphanet:93474"} synonym: "MPS I S" EXACT [NCIT:C61265] -synonym: "Mps V" RELATED [OMIM:607016] -synonym: "Mps V, formerly" RELATED [OMIM:607016] +synonym: "MPS V" RELATED [OMIM:607016] +synonym: "MPS V, formerly" RELATED [OMIM:607016] synonym: "MPS1-S" RELATED [GARD:0012561] synonym: "MPS1S" EXACT [Orphanet:93474] synonym: "MPS5, formerly" RELATED [GARD:0012561] @@ -228505,7 +230915,7 @@ xref: OMIM:607016 {source="ORDO:93474/e", source="Orphanet:93474", source="DOID: xref: Orphanet:579 {source="OMIM:607016", source="MONDO:subClassOf"} xref: Orphanet:93474 {source="OMIM:607016", source="DOID:0060222", source="MONDO:equivalentTo"} xref: UMLS:C0026708 {source="NCBI:mim2gene_medline", source="NCIT:C61265", source="OMIM:607016", source="MONDO:equivalentTo"} -is_a: MONDO:0001586 {source="MONDOLEX:0011760", source="Orphanet:93474"} ! mucopolysaccharidosis type 1 +is_a: MONDO:0001586 {source="MONDOLEX:0011760", source="NCIT:C61265", source="Orphanet:93474"} ! mucopolysaccharidosis type 1 is_a: MONDO:0002254 {source="MONDOLEX:0011760", source="NCIT:C61265"} ! syndromic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5391 {source="mim2gene_medgen"} ! IDUA property_value: confidence "0.8474641245560304" xsd:double @@ -228532,11 +230942,13 @@ id: MONDO:0011762 name: autosomal recessive nonsyndromic deafness 22 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOA gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 22" EXACT [DOID:0110480] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOA" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 22" EXACT [DOID:0110480, MONDORULE:2] synonym: "deafness, autosomal recessive 22" RELATED [MONDO:Lexical, OMIM:607039] synonym: "deafness, autosomal recessive 22; DFNB22" RELATED [OMIM:607039] synonym: "deafness, autosomal recessive type 22" EXACT [MONDORULE:2, OMIM:607039] synonym: "DFNB22" EXACT [DOID:0110480, MONDO:Lexical, OMIM:607039] +synonym: "OTOA autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110480 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110480"} xref: MESH:C564633 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -228563,14 +230975,16 @@ name: autosomal dominant Parkinson disease 8 def: "Any Parkinson disease in which the cause of the disease is a mutation in the LRRK2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant Parkinson disease type 8" EXACT [DOID:0060371, MONDORULE:1] synonym: "autosomal dominant Parkinson's disease 8" RELATED [DOID:0060371] +synonym: "LRRK2 Parkinson disease" EXACT [MONDO:design_pattern] synonym: "PARK8" RELATED [MONDO:Lexical, OMIM:607060] synonym: "Parkinson disease 8, autosomal dominant" RELATED [MONDO:Lexical, OMIM:607060] synonym: "Parkinson disease 8, autosomal dominant; PARK8" RELATED [OMIM:607060] +synonym: "Parkinson disease caused by mutation in LRRK2" EXACT [MONDO:design_pattern] xref: DOID:0060371 {source="MONDO:equivalentTo"} xref: OMIM:607060 {source="DOID:0060371", source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="OMIM:607060", source="MONDO:subClassOf"} xref: UMLS:C1846862 {source="NCBI:mim2gene_medline", source="OMIM:607060", source="MONDO:equivalentTo"} -is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:607060"} ! Parkinson disease +is_a: MONDO:0005180 {source="DOID:0060371/inferred", source="MONDO:Redundant", source="OMIM:607060"} ! Parkinson disease is_a: MONDO:0018466 {source="DOID:0060371", source="Orphanet:411602"} ! hereditary late onset Parkinson disease intersection_of: MONDO:0005180 ! Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18618 ! LRRK2 @@ -228630,12 +231044,14 @@ id: MONDO:0011767 name: autosomal recessive nonsyndromic deafness 31 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the WHRN gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 31" EXACT [DOID:0110490] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in WHRN" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 31" EXACT [DOID:0110490, MONDORULE:2] synonym: "deafness, autosomal recessive 31" RELATED [MONDO:Lexical, OMIM:607084] synonym: "deafness, autosomal recessive 31; DFNB31" RELATED [OMIM:607084] synonym: "deafness, autosomal recessive type 31" EXACT [MONDORULE:2, OMIM:607084] synonym: "DFNB31" EXACT [DOID:0110490, MONDO:Lexical, OMIM:607084] synonym: "whirler, mouse, homolog of" RELATED [OMIM:607084] +synonym: "WHRN autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110490 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110490"} xref: MESH:C564629 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -228736,7 +231152,7 @@ synonym: "B4GALT1-CDG (CDG-IId)" RELATED [GARD:0009841] synonym: "Beta-1,4-galactosyltransferase deficiency" EXACT [Orphanet:79332] synonym: "carbohydrate deficient glycoprotein syndrome type IId" EXACT [Orphanet:79332] synonym: "CDG 2D" RELATED [GARD:0009841] -synonym: "CDG Iid" RELATED [OMIM:607091] +synonym: "CDG IId" RELATED [OMIM:607091] synonym: "CDG syndrome type IId" EXACT [Orphanet:79332] synonym: "CDG-IId" EXACT [Orphanet:79332] synonym: "CDG2D" EXACT [MONDO:Lexical, OMIM:607091, Orphanet:79332] @@ -228799,11 +231215,13 @@ id: MONDO:0011774 name: autosomal recessive nonsyndromic deafness 30 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO3A gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 30" EXACT [DOID:0110489] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO3A" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 30" EXACT [DOID:0110489, MONDORULE:2] synonym: "deafness, autosomal recessive 30" RELATED [MONDO:Lexical, OMIM:607101] synonym: "deafness, autosomal recessive 30; DFNB30" RELATED [OMIM:607101] synonym: "deafness, autosomal recessive type 30" EXACT [MONDORULE:2, OMIM:607101] synonym: "DFNB30" EXACT [DOID:0110489, MONDO:Lexical, OMIM:607101] +synonym: "MYO3A autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110489 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110489"} xref: MESH:C564624 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -228821,9 +231239,11 @@ name: nasopharyngeal carcinoma, susceptibility to, 1 def: "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the TP53 gene." [MONDO:patterns/disease_series_by_gene] synonym: "nasopharyngeal cancer" RELATED [OMIM:607107] synonym: "nasopharyngeal carcinoma" RELATED [OMIM:607107] +synonym: "nasopharyngeal carcinoma caused by mutation in TP53" EXACT [MONDO:design_pattern] synonym: "nasopharyngeal carcinoma, susceptibility to, 1" EXACT [OMIM:607107] synonym: "NPC" RELATED [OMIM:607107] synonym: "Npca" RELATED [OMIM:607107] +synonym: "TP53 nasopharyngeal carcinoma" EXACT [MONDO:design_pattern] xref: OMIM:607107 {source="MONDO:equivalentTo"} xref: Orphanet:150 {source="OMIM:607107", source="MONDO:subClassOf"} xref: UMLS:C1846758 {source="OMIM:607107", source="MONDO:equivalentTo"} @@ -229010,7 +231430,7 @@ xref: SCTID:711155008 {source="MONDO:kboom-pr-1.00/0.80/9.96", source="MONDO:equ xref: UMLS:C1846695 {source="NCBI:mim2gene_medline"} xref: UMLS:C2931001 {source="Orphanet:79324", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:607143"} is_a: MONDO:0005500 {source="DC-OMIM:607143", source="MONDOLEX:0011783"} ! congenital disorder of glycosylation type I -is_a: MONDO:0015286 {source="MESH:C535745", source="MONDO:0011783/inferred", source="MONDO:Redundant", source="MONDOLEX:0011783/inferred", source="OMIM:607143", source="Orphanet:79324/inferred", source="linkedlifedata"} ! congenital disorder of glycosylation +is_a: MONDO:0015286 {source="MESH:C535745", source="MONDO:0011783/inferred", source="MONDO:Redundant", source="MONDOLEX:0011783/inferred", source="NCIT:C126873", source="OMIM:607143", source="Orphanet:79324/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79324"} ! disorder of protein N-glycosylation is_a: MONDO:0018284 {source="Orphanet:79324"} ! congenital disorder of glycosylation with neurological involvement relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19358 {source="mim2gene_medgen"} ! ALG12 @@ -229022,8 +231442,10 @@ name: Moyamoya disease 2 def: "Any Moyamoya disease in which the cause of the disease is a mutation in the RNF213 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Moyamoya disease 2" EXACT [MONDO:Lexical, OMIM:607151] synonym: "Moyamoya disease 2; MYMY2" RELATED [OMIM:607151] +synonym: "Moyamoya disease caused by mutation in RNF213" EXACT [MONDO:design_pattern] synonym: "Moyamoya disease type 2" EXACT [MONDORULE:1, OMIM:607151] synonym: "MYMY2" RELATED [MONDO:Lexical, OMIM:607151] +synonym: "RNF213 Moyamoya disease" EXACT [MONDO:design_pattern] xref: MESH:C536992 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:607151 {source="MONDO:equivalentTo"} xref: Orphanet:2573 {source="OMIM:607151", source="MONDO:subClassOf"} @@ -229054,7 +231476,7 @@ xref: OMIM:607152 {source="Orphanet:100999", source="DOID:0110772", source="ORDO xref: Orphanet:100999 {source="OMIM:607152", source="DOID:0110772", source="MONDO:equivalentTo"} xref: UMLS:C1846685 {source="OMIM:607152", source="Orphanet:100999", source="NCBI:mim2gene_medline", source="ORDO:100999/e", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015088 {source="Orphanet:100999"} ! autosomal dominant pure spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:607152", source="Orphanet:100999/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110772", source="MESH:C536856", source="MONDO:Redundant", source="OMIM:607152", source="Orphanet:100999/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.611111111111114" xsd:double [Term] @@ -229097,6 +231519,8 @@ id: MONDO:0011787 name: autosomal recessive limb-girdle muscular dystrophy type 2I def: "Autosomal recessive limb-girdle muscular dystrophy type 2I (LGMD2I) is a subtype of autosomal recessive limb-girdle muscular dystrophy that presents a highly variable age of onset and phenotypic spectrum typically characterized by slowly progressive proximal weakness of the pelvic and shoulder girdle musculature (predominantly affecting the lower limbs), frequently associated with waddling gait, scapular winging, calf and tongue hypertrophy, exercise-induced myalgia, and myoglobinuria and/or elevated creatine kinase serum levels. Abdominal muscle weakness, cardiomyopathy, respiratory muscle involvement and various brain abnormalities have also been reported." [Orphanet:34515] subset: ordo_disease {source="Orphanet:34515"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKRP" EXACT [MONDO:design_pattern] +synonym: "FKRP autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "LGMD2I" EXACT [DOID:0110299, Orphanet:34515] synonym: "limb-girdle muscular dystrophy due to FKRP deficiency" EXACT [DOID:0110299, Orphanet:34515] synonym: "limb-girdle muscular dystrophy type 2I" RELATED [GARD:0012533] @@ -229121,7 +231545,7 @@ is_a: MONDO:0015152 {source="DOID:0110299", source="MONDOLEX:0011787", source="O is_a: MONDO:0016156 {source="Orphanet:34515"} ! qualitative or quantitative defects of FKRP is_a: MONDO:0017745 {source="Orphanet:34515"} ! disorder of O-mannosylglycan synthesis is_a: MONDO:0018284 {source="Orphanet:34515"} ! congenital disorder of glycosylation with neurological involvement -is_a: MONDO:0020121 {source="NCIT:C126739", source="Orphanet:34515/inferred"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:0110299/inferred", source="MESH:C564612/inferred", source="NCIT:C126739", source="OMIM:607155/inferred", source="Orphanet:34515/inferred", source="linkedlifedata/inferred"} ! muscular dystrophy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17997 ! FKRP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17997 {source="mim2gene_medgen"} ! FKRP @@ -229205,6 +231629,8 @@ replaced_by: MONDO:0019588 id: MONDO:0011792 name: thyroid dyshormonogenesis 6 def: "Any familial thyroid dyshormonogenesis in which the cause of the disease is a mutation in the DUOX2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DUOX2 familial thyroid dyshormonogenesis" EXACT [MONDO:design_pattern] +synonym: "familial thyroid dyshormonogenesis caused by mutation in DUOX2" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, due to dyshormonogenesis, 6" RELATED [OMIM:607200] synonym: "TDH6" RELATED [MONDO:Lexical, OMIM:607200] synonym: "thyroid dyshormonogenesis 6" EXACT [MONDO:Lexical, OMIM:607200] @@ -229265,7 +231691,7 @@ xref: SCTID:230437002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:eq xref: UMLS:C0751122 {source="NCIT:C116573", source="NCBI:mim2gene_medline", source="OMIM:607208", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:33069"} is_a: MONDO:0000413 {source="DOID:0060171"} ! infancy electroclinical syndrome is_a: MONDO:0002254 {source="MONDOLEX:0011794", source="NCIT:C116573"} ! syndromic disease -is_a: MONDO:0005027 {source="MONDO:Redundant", source="NCIT:C116573", source="Orphanet:33069", source="linkedlifedata"} ! epilepsy +is_a: MONDO:0005027 {source="DOID:0060171/inferred", source="MONDO:Redundant", source="NCIT:C116573", source="Orphanet:33069", source="linkedlifedata", source="linkedlifedata/inferred"} ! epilepsy is_a: MONDO:0016021 {source="DC-OMIM:607208", source="OMIM:607208"} ! early infantile epileptic encephalopathy is_a: MONDO:0100022 {source="Orphanet:33069", source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10585 {source="mim2gene_medgen"} ! SCN1A @@ -229420,6 +231846,7 @@ name: hereditary spastic paraplegia 7 def: "Autosomal recessive spastic paraplegia type 7 is a form of hereditary spastic paraplegia (see this term) characterized by an onset usually in adulthood (but ranging from 10-72 years) of progressive bilateral lower limb weakness and spasticity, sphincter dysfunction, decreased vibratory sense at the ankles and with additional manifestations including optical neuropathy, nystagmus, strabismus, decreased hearing, scoliosis, pes cavus, motor and sensory neuropathy, amyotrophy, blepharoptosis and ophthalmoplegia." [Orphanet:99013] subset: ordo_disease {source="Orphanet:99013"} synonym: "autosomal recessive spastic paraplegia 7" EXACT [DOID:0110816] +synonym: "hereditary spastic paraplegia caused by mutation in SPG7" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia paraplegin type" RELATED [GARD:0004927] synonym: "hereditary spastic paraplegia type 7" EXACT [DOID:0110816, MONDORULE:1] synonym: "spastic paraplegia 7" RELATED [GARD:0004927] @@ -229427,6 +231854,7 @@ synonym: "spastic paraplegia 7, autosomal recessive" RELATED [MONDO:Lexical, OMI synonym: "spastic paraplegia 7, autosomal recessive; SPG7" RELATED [OMIM:607259] synonym: "spastic paraplegia type 7" EXACT [DOID:0110816] synonym: "SPG7" EXACT [DOID:0110816, MONDO:Lexical, OMIM:607259, Orphanet:99013] +synonym: "SPG7 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] xref: DOID:0110816 {source="MONDO:equivalentTo"} xref: GARD:0004927 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G11.4 {source="ORDO:99013/attributed", source="Orphanet:99013", source="MONDO:subClassOf", source="ORDO:99013/ntbt", source="DOID:0110816"} @@ -229440,7 +231868,7 @@ is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disease is_a: MONDO:0017915 {source="Orphanet:99013"} ! pure or complex autosomal recessive spastic paraplegia is_a: MONDO:0018157 {source="Orphanet:99013"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis is_a: MONDO:0018609 {source="Orphanet:99013"} ! syndromic hereditary optic neuropathy -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:607259", source="Orphanet:99013/inferred", source="linkedlifedata"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110816", source="MONDO:Redundant", source="OMIM:607259", source="Orphanet:99013/inferred", source="linkedlifedata"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11237 ! SPG7 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11237 {source="mim2gene_medgen"} ! SPG7 @@ -229453,9 +231881,11 @@ def: "Autoimmune lymphoproliferative syndrome (ALPS) with recurrent viral infect subset: ordo_disease {source="Orphanet:275517"} synonym: "ALPS with recurrent viral infections" EXACT [DOID:0110116, Orphanet:275517] synonym: "ALPS2B" EXACT [DOID:0110116] +synonym: "autoimmune lymphoproliferative syndrome caused by mutation in CASP8" EXACT [MONDO:design_pattern] synonym: "autoimmune lymphoproliferative syndrome type IIB" EXACT [DOID:0110116] synonym: "autoimmune lymphoproliferative syndrome with recurrent viral infections" EXACT [DOID:0110116] synonym: "autoimmune lymphoproliferative syndrome, type 2B" RELATED [OMIM:607271] +synonym: "CASP8 autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern] synonym: "caspase 8 deficiency" EXACT [DOID:0110116, OMIM:607271] synonym: "caspase 8 deficiency syndrome" EXACT [DOID:0110116, Orphanet:275517] synonym: "caspase eight deficiency state" EXACT [DOID:0110116] @@ -229483,6 +231913,8 @@ synonym: "As1" RELATED [OMIM:607277] synonym: "Asrt1" RELATED [OMIM:607277] synonym: "asthma-related traits, susceptibility to, 1" EXACT [OMIM:607277] synonym: "asthma-Related traits, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607277] +synonym: "inherited susceptibility to asthma caused by mutation in PTGDR" EXACT [MONDO:design_pattern] +synonym: "PTGDR inherited susceptibility to asthma" EXACT [MONDO:design_pattern] xref: OMIM:607277 {source="MONDO:equivalentTo"} xref: UMLS:C1846534 {source="NCBI:mim2gene_medline", source="OMIM:607277", source="MONDO:equivalentTo"} is_a: MONDO:0010940 {source="MONDO:cjm", source="MONDOLEX:0011805"} ! inherited susceptibility to asthma @@ -229544,7 +231976,7 @@ xref: OMIM:607304 {source="DOID:0110233", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="OMIM:607304", source="MONDO:subClassOf"} xref: Orphanet:98991 {source="OMIM:607304", source="MONDO:subClassOf"} xref: UMLS:C1846520 {source="NCBI:mim2gene_medline", source="OMIM:607304", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:607304"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110233", source="MESH:C564596", source="MONDO:Redundant", source="OMIM:607304"} ! cataract (disease) is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract is_a: MONDO:0020376 {source="ORDO:98991/btnt"} ! early-onset nuclear cataract is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt"} ! early-onset partial cataract @@ -229669,10 +232101,12 @@ property_value: confidence "0.7021276595744683" xsd:double id: MONDO:0011814 name: Smith-McCort dysplasia 1 def: "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the DYM gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DYM Smith-McCort dysplasia" EXACT [MONDO:design_pattern] synonym: "SMC" RELATED [OMIM:607326] synonym: "Smc1" RELATED [MONDO:Lexical, OMIM:607326] synonym: "Smith-McCort dysplasia 1" EXACT [MONDO:Lexical, OMIM:607326] synonym: "SMITH-McCort dysplasia 1; Smc1" RELATED [OMIM:607326] +synonym: "Smith-McCort dysplasia caused by mutation in DYM" EXACT [MONDO:design_pattern] synonym: "Smith-McCort dysplasia type 1" EXACT [MONDORULE:1, OMIM:607326] xref: OMIM:607326 {source="MONDO:equivalentTo"} xref: Orphanet:178355 {source="OMIM:607326", source="MONDO:subClassOf"} @@ -229723,8 +232157,10 @@ id: MONDO:0011817 name: coronary heart disease, susceptibility to, 1 def: "Any coronary artery disease in which the cause of the disease is a mutation in the CX3CR1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Chds1" RELATED [OMIM:607339] +synonym: "coronary artery disease caused by mutation in CX3CR1" EXACT [MONDO:design_pattern] synonym: "coronary heart disease, susceptibility to, 1" EXACT [OMIM:607339] synonym: "coronary heart disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607339] +synonym: "CX3CR1 coronary artery disease" EXACT [MONDO:design_pattern] xref: OMIM:607339 {source="MONDO:equivalentTo"} xref: UMLS:C1846418 {source="NCBI:mim2gene_medline", source="OMIM:607339", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease @@ -229825,12 +232261,14 @@ name: Meckel syndrome, type 3 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM67 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0008744"} synonym: "Meckel syndrome 3" RELATED [DOID:0070117] +synonym: "Meckel syndrome caused by mutation in TMEM67" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome type 3" RELATED [GARD:0008744] synonym: "Meckel syndrome, type 3" EXACT [MONDO:Lexical, OMIM:607361] synonym: "MECKEL syndrome, type 3; MKS3" RELATED [OMIM:607361] synonym: "Meckel-Gruber syndrome, type 3" EXACT [DOID:0070117] synonym: "Meckel-Gruber syndrome, type 3" RELATED [OMIM:607361] synonym: "MKS3" EXACT [DOID:0070117, MONDO:Lexical, OMIM:607361] +synonym: "TMEM67 Meckel syndrome" EXACT [MONDO:design_pattern] xref: DOID:0070117 {source="MONDO:equivalentTo"} xref: GARD:0008744 {source="MONDO:equivalentTo"} xref: ICD10:Q61.9 {source="DOID:0070117"} @@ -229925,10 +232363,12 @@ id: MONDO:0011826 name: glucocorticoid deficiency 2 def: "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MRAP gene." [MONDO:patterns/disease_series_by_gene] synonym: "familial glucocorticoid deficiency 2" RELATED [OMIM:607398] +synonym: "familial glucocorticoid deficiency caused by mutation in MRAP" EXACT [MONDO:design_pattern] synonym: "GCCD2" RELATED [MONDO:Lexical, OMIM:607398] synonym: "glucocorticoid deficiency 2" EXACT [MONDO:Lexical, OMIM:607398] synonym: "glucocorticoid deficiency 2; GCCD2" RELATED [OMIM:607398] synonym: "glucocorticoid deficiency type 2" EXACT [MONDORULE:1, OMIM:607398] +synonym: "MRAP familial glucocorticoid deficiency" EXACT [MONDO:design_pattern] xref: OMIM:607398 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="MONDO:subClassOf", source="OMIM:607398"} xref: UMLS:C1846284 {source="NCBI:mim2gene_medline", source="OMIM:607398", source="MONDO:equivalentTo"} @@ -229961,7 +232401,7 @@ xref: Orphanet:706 {source="OMIM:607411"} xref: SCTID:156928009 {source="DOID:13832"} xref: SCTID:83330001 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:13832", source="MONDO:equivalentTo"} xref: UMLS:C0013274 {source="OMIM:607411", source="DOID:13832", source="NCIT:C84492"} -is_a: MONDO:0005385 {source="NCIT:C84492"} ! vascular disease +is_a: MONDO:0005385 {source="NCIT:C84492", source="linkedlifedata/inferred"} ! vascular disease is_a: MONDO:0005453 {source="DOID:13832", source="MESH:D004374"} ! congenital heart disease is_a: MONDO:0018758 {source="ORDO:466729/btnt"} ! familial patent arterial duct property_value: confidence "39.499999999999936" xsd:double @@ -229971,6 +232411,8 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7342/patent-d id: MONDO:0011828 name: intellectual disability, autosomal recessive 2 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRBN gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CRBN" EXACT [MONDO:design_pattern] +synonym: "CRBN autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 2" RELATED [MONDO:Lexical, OMIM:607417] synonym: "mental retardation, autosomal recessive 2; MRT2" RELATED [OMIM:607417] synonym: "mental retardation, autosomal recessive 2A" RELATED [OMIM:607417] @@ -229990,12 +232432,14 @@ id: MONDO:0011829 name: coenzyme Q10 deficiency, primary, 1 def: "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Coenzyme Q deficiency 1" RELATED [OMIM:607426] +synonym: "coenzyme Q10 deficiency caused by mutation in COQ2" EXACT [MONDO:design_pattern] synonym: "coenzyme Q10 deficiency, primary, 1" EXACT [MONDO:Lexical, OMIM:607426] synonym: "COENZYME Q10 deficiency, primary, 1; COQ10D1" RELATED [OMIM:607426] synonym: "Coenzyme Q10 deficiency, primary, type 1" EXACT [MONDORULE:1, OMIM:607426] synonym: "CoQ deficiency 1" RELATED [OMIM:607426] synonym: "Coq10 deficiency, primary, 1" RELATED [OMIM:607426] synonym: "COQ10D1" RELATED [MONDO:Lexical, OMIM:607426] +synonym: "COQ2 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern] synonym: "ubiquinone deficiency 1" RELATED [OMIM:607426] xref: OMIM:607426 {source="MONDO:equivalentTo"} xref: Orphanet:255249 {source="OMIM:607426", source="MONDO:subClassOf"} @@ -230040,12 +232484,14 @@ name: arrhythmogenic right ventricular dysplasia 8 def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSP gene." [MONDO:patterns/disease_series_by_gene] synonym: "arrhythmogenic right ventricular cardiomyopathy 8" EXACT [DOID:0110076] synonym: "arrhythmogenic right ventricular cardiomyopathy 8" RELATED [OMIM:607450] +synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSP" EXACT [MONDO:design_pattern] synonym: "arrhythmogenic right ventricular dysplasia type 8" EXACT [DOID:0110076, MONDORULE:1] synonym: "arrhythmogenic right ventricular dysplasia, familial, 8" RELATED [MONDO:Lexical, OMIM:607450] synonym: "arrhythmogenic right ventricular dysplasia, familial, 8; ARVD8" RELATED [OMIM:607450] synonym: "arrhythmogenic right ventricular dysplasia, familial, type 8" EXACT [MONDORULE:1, OMIM:607450] synonym: "ARVC8" EXACT [DOID:0110076] synonym: "ARVD8" EXACT [DOID:0110076, MONDO:Lexical, OMIM:607450] +synonym: "DSP arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "familial arrhythmogenic right ventricular dysplasia 8" EXACT [DOID:0110076] xref: DOID:0110076 {source="MONDO:equivalentTo"} xref: ICD10:I42.8 {source="DOID:0110076"} @@ -230054,7 +232500,7 @@ xref: OMIM:607450 {source="DOID:0110076", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:607450"} xref: UMLS:C1843896 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607450"} is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia -is_a: MONDO:0016587 {source="MESH:C564400", source="MONDO:Redundant", source="OMIM:607450"} ! arrhythmogenic right ventricular cardiomyopathy +is_a: MONDO:0016587 {source="DOID:0110076", source="MESH:C564400", source="MONDO:Redundant", source="OMIM:607450"} ! arrhythmogenic right ventricular cardiomyopathy intersection_of: MONDO:0016587 ! arrhythmogenic right ventricular cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3052 ! DSP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3052 {source="mim2gene_medgen"} ! DSP @@ -230065,7 +232511,9 @@ id: MONDO:0011832 name: autosomal dominant nonsyndromic deafness 44 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CCDC50 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 44" EXACT [DOID:0110569] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CCDC50" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 44" EXACT [DOID:0110569, MONDORULE:2] +synonym: "CCDC50 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal dominant 44" RELATED [MONDO:Lexical, OMIM:607453] synonym: "deafness, autosomal dominant 44; DFNA44" RELATED [OMIM:607453] synonym: "deafness, autosomal dominant type 44" EXACT [MONDORULE:2, OMIM:607453] @@ -230182,10 +232630,12 @@ property_value: confidence "1.198067632850242" xsd:double id: MONDO:0011837 name: vitamin K-dependent clotting factors, combined deficiency of, type 2 def: "Any congenital vitamin K-dependent coagulation factors combined deficiency in which the cause of the disease is a mutation in the VKORC1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "congenital vitamin K-dependent coagulation factors combined deficiency caused by mutation in VKORC1" EXACT [MONDO:design_pattern] synonym: "VITAMIN K-dependent clotting factors, combined deficiency of, 2" RELATED [MONDO:Lexical, OMIM:607473] synonym: "Vitamin K-dependent clotting factors, combined deficiency of, 2" EXACT [MONDORULE:1, OMIM:607473] synonym: "VITAMIN K-dependent clotting factors, combined deficiency of, 2; VKCFD2" RELATED [OMIM:607473] synonym: "VKCFD2" RELATED [MONDO:Lexical, OMIM:607473] +synonym: "VKORC1 congenital vitamin K-dependent coagulation factors combined deficiency" EXACT [MONDO:design_pattern] xref: MESH:C564393 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:607473 {source="MONDO:equivalentTo"} xref: UMLS:C1843832 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:607473"} @@ -230210,7 +232660,7 @@ xref: OMIM:607475 {source="ORDO:85128/e", source="Orphanet:85128", source="DOID: xref: Orphanet:85128 {source="OMIM:607475", source="MONDO:equivalentTo"} xref: SCTID:715647007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1843816 {source="Orphanet:85128", source="NCBI:mim2gene_medline", source="OMIM:607475", source="MONDO:equivalentTo"} -is_a: MONDO:0019118 {source="DOID:0050683", source="Orphanet:85128", source="linkedlifedata"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="DOID:0050683", source="Orphanet:85128", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10024 {source="mim2gene_medgen"} ! RLBP1 property_value: confidence "4.277777777777778" xsd:double @@ -230218,9 +232668,11 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0011839 name: Newfoundland cone-rod dystrophy def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RLBP1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "cone-rod dystrophy caused by mutation in RLBP1" EXACT [MONDO:design_pattern] synonym: "Newfoundland ROD-cone dystrophy" RELATED [MONDO:Lexical, OMIM:607476] synonym: "Newfoundland ROD-cone dystrophy; NFRCD" RELATED [OMIM:607476] synonym: "NFRCD" EXACT [DOID:0111015, MONDO:Lexical, OMIM:607476] +synonym: "RLBP1 cone-rod dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0111015 {source="MONDO:equivalentTo"} xref: MESH:C564391 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:607476 {source="DOID:0111015", source="MONDO:equivalentTo"} @@ -230238,7 +232690,9 @@ synonym: "cardiomyopathy, dilated, 1M" RELATED [MONDO:Lexical, OMIM:607482] synonym: "cardiomyopathy, dilated, 1M; CMD1M" RELATED [OMIM:607482] synonym: "cardiomyopathy, dilated, type 1M" EXACT [MONDORULE:4, OMIM:607482] synonym: "CMD1M" EXACT [DOID:0110449, MONDO:Lexical, OMIM:607482] +synonym: "CSRP3 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "dilated cardiomyopathy type 1M" EXACT [DOID:0110449, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in CSRP3" EXACT [MONDO:design_pattern] xref: DOID:0110449 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110449", source="MONDO:subClassOf"} xref: MESH:C564390 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -230274,7 +232728,7 @@ xref: Orphanet:65284 {source="MONDO:equivalentTo", source="OMIM:607483"} xref: SCTID:703522009 {source="MONDO:kboom-pr-0.95/0.75/1.87", source="MONDO:equivalentTo"} xref: UMLS:C1843807 {source="Orphanet:65284", source="NCBI:mim2gene_medline", source="ORDO:65284/e", source="MONDO:equivalentTo", source="OMIM:607483"} is_a: MONDO:0000152 {source="DC-OMIM:607483", source="OMIM:607483"} ! thiamine-responsive dysfunction syndrome -is_a: MONDO:0003996 {source="DOID:0050659", source="MESH:C537658", source="linkedlife"} ! basal ganglia disease +is_a: MONDO:0003996 {source="DOID:0050659", source="MESH:C537658", source="linkedlifedata"} ! basal ganglia disease is_a: MONDO:0019058 {source="Orphanet:65284"} ! neurometabolic disease intersection_of: MONDO:0003996 ! basal ganglia disease intersection_of: disease_responds_to CHEBI:15956 ! biotin @@ -230313,13 +232767,15 @@ synonym: "cardiomyopathy, familial hypertrophic, 25" RELATED [MONDO:Lexical, OMI synonym: "cardiomyopathy, familial hypertrophic, 25; CMH25" RELATED [OMIM:607487] synonym: "cardiomyopathy, familial hypertrophic, type 25" EXACT [MONDORULE:2, OMIM:607487] synonym: "CMH25" EXACT [DOID:0110328, MONDO:Lexical, OMIM:607487] +synonym: "hypertrophic cardiomyopathy caused by mutation in TCAP" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 25" EXACT [DOID:0110328, MONDORULE:2] +synonym: "TCAP hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110328 {source="MONDO:equivalentTo"} xref: MESH:C564388 {source="MONDO:equivalentTo"} xref: OMIM:607487 {source="DOID:0110328", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:607487"} xref: UMLS:C1843791 {source="NCBI:mim2gene_medline", source="OMIM:607487", source="MONDO:equivalentTo"} -is_a: MONDO:0005021 {source="DC-OMIM:607487"} ! dilated cardiomyopathy +is_a: MONDO:0005021 {source="DC-OMIM:607487", source="MESH:C564388"} ! dilated cardiomyopathy is_a: MONDO:0005045 {source="DOID:0110328", source="MONDO:Redundant", source="OMIM:607487"} ! hypertrophic cardiomyopathy is_a: MONDO:0024573 {source="MONDOLEX:0011843", source="OMIM", source="OMIM:607487"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy @@ -230340,7 +232796,7 @@ xref: OMIM:607488 {source="DOID:0090035", source="MONDO:equivalentTo"} xref: Orphanet:210566 {source="DOID:0090035", source="OMIM:607488"} xref: UMLS:C1843786 {source="NCBI:mim2gene_medline", source="OMIM:607488", source="MONDO:equivalentTo"} is_a: MONDO:0000903 {source="DOID:0090035"} ! myoclonus-dystonia syndrome -is_a: MONDO:0003441 {source="MESH:C538002/inferred", source="MONDO:Redundant", source="OMIM:607488"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090035/inferred", source="MESH:C538002/inferred", source="MONDO:Redundant", source="OMIM:607488"} ! dystonic disorder [Term] id: MONDO:0011845 @@ -230392,7 +232848,7 @@ xref: SCTID:193029000 {source="DOID:12783"} xref: SCTID:56097005 {source="EFO:0005296", source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12783", source="MONDO:equivalentTo"} xref: UMLS:C0338480 {source="NCIT:C117004", source="MEDGEN:kboom-pr98-c99", source="DOID:12783", source="MONDO:equivalentTo"} xref: UMLS:C1843773 {source="NCBI:mim2gene_medline", source="OMIM:607501"} -is_a: MONDO:0005277 {source="DC-OMIM:607501", source="DOID:12783", source="EFO:0005296", source="MESH:D020326"} ! migraine disorder +is_a: MONDO:0005277 {source="DC-OMIM:607501", source="DOID:12783", source="EFO:0005296", source="MESH:D020326", source="NCIT:C117004"} ! migraine disorder is_a: MONDO:0015954 {source="OWLReasoner:2017"} ! rare genetic headache disorder [Term] @@ -230473,6 +232929,8 @@ property_value: confidence "1.0" xsd:double id: MONDO:0011852 name: nonsyndromic congenital nail disorder 8 def: "Any inherited isolated nail anomaly in which the cause of the disease is a mutation in the COL7A1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "COL7A1 inherited isolated nail anomaly" EXACT [MONDO:design_pattern] +synonym: "inherited isolated nail anomaly caused by mutation in COL7A1" EXACT [MONDO:design_pattern] synonym: "nail disorder, nonsyndromic congenital, 8" RELATED [MONDO:Lexical, OMIM:607523] synonym: "nail disorder, nonsyndromic congenital, 8; NDNC8" RELATED [OMIM:607523] synonym: "nail disorder, nonsyndromic congenital, type 8" EXACT [MONDORULE:1, OMIM:607523] @@ -230543,7 +233001,7 @@ xref: OMIM:607541 {source="Orphanet:98963", source="ORDO:98963/e", source="DOID: xref: Orphanet:98963 {source="DOID:0060444", source="OMIM:607541", source="MONDO:equivalentTo"} xref: SCTID:397568004 {source="MONDO:kboom-pr-0.80/0.42/0.91", source="DOID:0060444", source="MONDO:equivalentTo"} xref: UMLS:C1275685 {source="NCBI:mim2gene_medline", source="Orphanet:98963", source="ORDO:98963/e", source="MEDGEN:kboom-pr98-c99", source="DOID:0060444", source="OMIM:607541", source="MONDO:equivalentTo"} -is_a: MONDO:0000764 {source="DOID:0060444"} ! epithelial-stromal TGFB1 dystrophy +is_a: MONDO:0000764 {source="DOID:0060444"} ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020213 {source="Orphanet:98963", source="linkedlifedata"} ! stromal corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11771 {source="mim2gene_medgen"} ! TGFBI property_value: confidence "26.499999999999996" xsd:double @@ -230554,7 +233012,7 @@ name: spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome subset: ordo_disease {source="Orphanet:168552"} synonym: "SmD with bowed forearms and Facial Dysmorphism" RELATED [OMIM:607543] synonym: "SmD with with bowed forearms and facial dysmorphism" RELATED [GARD:0008719] -synonym: "spondylometaphyseal dysplasia with bowed forearms and facial DYSMORPHISM" RELATED [OMIM:607543] +synonym: "spondylometaphyseal dysplasia with bowed forearms and facial dysmorphism" RELATED [OMIM:607543] xref: GARD:0008719 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:Q77.8 {source="Orphanet:168552", source="ORDO:168552/attributed", source="ORDO:168552/ntbt"} xref: MESH:C535791 {source="Orphanet:168552", source="ORDO:168552/e", source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -230572,6 +233030,8 @@ synonym: "ATFB3" RELATED [MONDO:Lexical, OMIM:607554] synonym: "atrial fibrillation, familial, 3" EXACT [MONDO:Lexical, OMIM:607554] synonym: "atrial fibrillation, familial, 3; ATFB3" RELATED [OMIM:607554] synonym: "atrial fibrillation, familial, type 3" EXACT [MONDORULE:1, OMIM:607554] +synonym: "familial atrial fibrillation caused by mutation in KCNQ1" EXACT [MONDO:design_pattern] +synonym: "KCNQ1 familial atrial fibrillation" EXACT [MONDO:design_pattern] xref: MESH:C563817 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:607554 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="MONDO:subClassOf", source="OMIM:607554"} @@ -230649,7 +233109,7 @@ xref: OMIM:607584 {source="DOID:0110775", source="Orphanet:101004", source="ORDO xref: Orphanet:101004 {source="DOID:0110775", source="OMIM:607584", source="MONDO:equivalentTo"} xref: UMLS:C1843569 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="Orphanet:101004", source="OMIM:607584", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:101004"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:607584", source="Orphanet:101004/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110775", source="MONDO:Redundant", source="OMIM:607584", source="Orphanet:101004/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.611111111111114" xsd:double [Term] @@ -230717,18 +233177,20 @@ property_value: confidence "21.666666666666668" xsd:double id: MONDO:0011866 name: pontocerebellar hypoplasia type 1A def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VRK1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in VRK1" EXACT [MONDO:design_pattern] synonym: "Pch1" RELATED [OMIM:607596] synonym: "PCH1A" RELATED [MONDO:Lexical, OMIM:607596] synonym: "pontocerebellar hypoplasia with anterior horn cell disease" RELATED [OMIM:607596] synonym: "pontocerebellar hypoplasia with infantile spinal muscular atrophy" RELATED [OMIM:607596] synonym: "pontocerebellar hypoplasia, type 1A" RELATED [MONDO:Lexical, OMIM:607596] synonym: "pontocerebellar hypoplasia, type 1A; PCH1A" RELATED [OMIM:607596] +synonym: "VRK1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern] xref: DOID:0060265 {source="MONDO:equivalentTo"} xref: OMIM:607596 {source="DOID:0060265", source="MONDO:equivalentTo"} xref: Orphanet:2254 {source="DOID:0060265", source="MONDO:subClassOf", source="OMIM:607596"} xref: UMLS:C1843504 {source="NCBI:mim2gene_medline", source="MONDO:subClassOf", source="OMIM:607596"} is_a: MONDO:0016396 {source="MONDOLEX:0011866", source="ORDO:2254/btnt"} ! pontocerebellar hypoplasia type 1 -is_a: MONDO:0020135 {source="MONDO:Redundant", source="OMIM:607596"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0060265", source="MONDO:Redundant", source="OMIM:607596"} ! non-syndromic pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! non-syndromic pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12718 ! VRK1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12718 {source="mim2gene_medgen"} ! VRK1 @@ -230749,9 +233211,11 @@ name: lethal congenital contracture syndrome 2 def: "Lethal congenital contracture syndrome type 2 is a rare arthrogryposis syndrome characterized by multiple congenital contactures (typically extended elbows and flexed knees), micrognathia, anterior horn cell degeneration, skeletal muscle atrophy (mainly in the lower limbs), presence of a markedly distended urinary bladder and absence of hydrops, pterygia and bone fractures. Other craniofacial (e.g. cleft palate, facial palsy) and ocular (e.g. anisocoria, retinal detachment) anomalies may be additionally observed. The disease is usually neonatally lethal however, survival into adolescence has been reported." [Orphanet:137776] subset: gard_rare {source="GARD:0009177"} subset: ordo_malformation_syndrome {source="Orphanet:137776"} +synonym: "ERBB3 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern] synonym: "LCCS2" EXACT [DOID:0060560, MONDO:Lexical, OMIM:607598, Orphanet:137776] synonym: "lethal congenital contracture syndrome 2" EXACT [MONDO:Lexical, OMIM:607598] synonym: "lethal congenital contracture syndrome 2; LCCS2" RELATED [OMIM:607598] +synonym: "lethal congenital contracture syndrome caused by mutation in ERBB3" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 2" EXACT [DOID:0060560, MONDORULE:1, OMIM:607598] synonym: "multiple contracture syndrome, Israeli Bedouin type" RELATED [GARD:0009177] synonym: "multiple contracture syndrome, Israeli Bedouin type a" RELATED [OMIM:607598] @@ -230838,7 +233302,7 @@ xref: UMLS:C0268243 {source="ORDO:77293/e", source="OMIM:607616", source="NCBI:m xref: UMLS:C0268248 {source="OMIM:607616"} xref: UMLS:C1843418 {source="OMIM:607616"} xref: UMLS:C2675644 {source="OMIM:607616"} -is_a: MONDO:0001982 {source="DC-OMIM:607616", source="DOID:0070112", source="MESH:D052537", source="NCIT:C126866", source="Orphanet:77293", source="linkedlife"} ! Niemann-Pick disease +is_a: MONDO:0001982 {source="DC-OMIM:607616", source="DOID:0070112", source="MESH:D052537", source="NCIT:C126866", source="Orphanet:77293", source="linkedlifedata"} ! Niemann-Pick disease is_a: MONDO:0015510 {source="MONDO:Entailed"} ! rare genetic respiratory disease is_a: MONDO:0016133 {source="Orphanet:77293"} ! rare hereditary metabolic disease with peripheral neuropathy is_a: MONDO:0017024 {source="Orphanet:77293"} ! secondary interstitial lung disease specific to childhood associated with a metabolic disease @@ -230902,7 +233366,7 @@ xref: NCIT:C126865 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equiv xref: OMIM:607625 {source="DOID:0070114", source="MONDO:equivalentTo"} xref: Orphanet:646 {source="OMIM:607625", source="MONDO:subClassOf"} xref: UMLS:C1843366 {source="NCBI:mim2gene_medline", source="OMIM:607625", source="NCIT:C126865", source="MONDO:equivalentTo"} -is_a: MONDO:0001982 {source="DOID:0070114", source="MESH:C536119/inferred"} ! Niemann-Pick disease +is_a: MONDO:0001982 {source="DOID:0070114", source="MESH:C536119/inferred", source="NCIT:C126865/inferred"} ! Niemann-Pick disease is_a: MONDO:0018982 {source="MESH:C536119", source="MONDOLEX:0011873", source="ORDO:646/btnt"} ! Niemann-Pick disease type C relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14537 {source="mim2gene_medgen"} ! NPC2 property_value: confidence "0.8364197530864197" xsd:double @@ -230937,12 +233401,14 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0011875 name: epilepsy, idiopathic generalized, susceptibility to, 11 def: "Any generalised epilepsy in which the cause of the disease is a mutation in the CLCN2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CLCN2 generalised epilepsy" EXACT [MONDO:design_pattern] synonym: "EIG11" RELATED [MONDO:Lexical, OMIM:607628] synonym: "epilepsy, idiopathic generalized, susceptibility to, 11" EXACT [MONDO:Lexical, OMIM:607628] synonym: "epilepsy, idiopathic generalized, susceptibility to, 11; EIG11" RELATED [OMIM:607628] synonym: "epilepsy, idiopathic generalized, susceptibility to, type 11" EXACT [MONDORULE:2, OMIM:607628] synonym: "epilepsy, juvenile absence, susceptibility to, 2" RELATED [OMIM:607628] synonym: "epilepsy, juvenile myoclonic, susceptibility to, 8" RELATED [OMIM:607628] +synonym: "generalised epilepsy caused by mutation in CLCN2" EXACT [MONDO:design_pattern] synonym: "susceptibility to idiopathic generalized epilepsy 11" RELATED [OMIM:607628] xref: OMIM:607628 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="OMIM:607628", source="MONDO:subClassOf", source="MONDO:superClassOf"} @@ -230981,7 +233447,7 @@ xref: UMLS:C0014553 {source="NCBI:mim2gene_medline"} xref: UMLS:C2750892 {source="OMIM:607631"} xref: UMLS:C2930918 {source="ORDO:1941/e", source="Orphanet:1941"} xref: UMLS:C4317339 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005579 {source="NCIT:C129868"} ! generalised epilepsy +is_a: MONDO:0005579 {source="NCIT:C129868", source="linkedlifedata/inferred"} ! generalised epilepsy is_a: MONDO:0009696 ! juvenile myoclonic epilepsy is_a: MONDO:0100030 {source="http://orcid.org/0000-0001-8486-0558"} ! adolescent/adult-onset epilepsy syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16406 {source="mim2gene_medgen"} ! EFHC1 @@ -231043,10 +233509,12 @@ property_value: confidence "2.7500000000000004" xsd:double id: MONDO:0011879 name: neuronopathy, distal hereditary motor, type 7B def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the DCTN1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DCTN1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern] synonym: "Dhmn7B" RELATED [OMIM:607641] synonym: "HMN 7B" RELATED [OMIM:607641] synonym: "HMN7B" RELATED [MONDO:Lexical, OMIM:607641] synonym: "Lower motor neuron disease, dynactin type" RELATED [OMIM:607641] +synonym: "neuronopathy, distal hereditary motor caused by mutation in DCTN1" EXACT [MONDO:design_pattern] synonym: "neuronopathy, distal hereditary motor, type VIIB" RELATED [MONDO:Lexical, OMIM:607641] synonym: "neuronopathy, distal hereditary motor, type VIIB; HMN7B" RELATED [OMIM:607641] synonym: "neuropathy, distal hereditary motor, type 7B" RELATED [OMIM:607641] @@ -231087,8 +233555,10 @@ synonym: "keratoderma, palmoplantar, striate form 3" RELATED [OMIM:607654] synonym: "keratosis palmoplantaris striata III" RELATED [MONDO:Lexical, OMIM:607654] synonym: "keratosis palmoplantaris striata III; PPKS3" RELATED [OMIM:607654] synonym: "keratosis palmoplantaris striata type 3" EXACT [MONDORULE:1, OMIM:607654] +synonym: "KRT1 striate palmoplantar keratoderma" EXACT [MONDO:design_pattern] synonym: "PPKS3" RELATED [MONDO:Lexical, OMIM:607654] synonym: "striate palmoplantar keratoderma 3" RELATED [OMIM:607654] +synonym: "striate palmoplantar keratoderma caused by mutation in KRT1" EXACT [MONDO:design_pattern] xref: GARD:0009173 {source="MONDO:equivalentTo"} xref: MESH:C536163 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:607654 {source="MONDO:equivalentTo"} @@ -231216,7 +233686,7 @@ xref: OMIM:607671 {source="DOID:0090037", source="Orphanet:98807", source="MONDO xref: Orphanet:98807 {source="DOID:0090037", source="MONDO:equivalentTo", source="OMIM:607671"} xref: SCTID:719278006 {source="MONDO:kboom-pr-1.00/0.80/9.81", source="MONDO:equivalentTo"} xref: UMLS:C1843264 {source="NCBI:mim2gene_medline", source="Orphanet:98807", source="OMIM:607671"} -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:607671", source="linkedlifedata"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090037", source="MONDO:Redundant", source="OMIM:607671", source="linkedlifedata", source="linkedlifedata/inferred"} ! dystonic disorder is_a: MONDO:0015990 {source="Orphanet:98807"} ! focal, segmental or multifocal dystonia property_value: confidence "1.9999999999999996" xsd:double @@ -231271,7 +233741,7 @@ xref: UMLS:C1837552 {source="MONDO:directSiblingOf", source="OMIM:607677"} xref: UMLS:C1843251 {source="NCBI:mim2gene_medline"} xref: UMLS:C3888087 {source="Orphanet:99942"} xref: UMLS:CN207466 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:607677", source="Orphanet:99942/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110158/inferred", source="MONDO:Redundant", source="OMIM:607677", source="Orphanet:99942/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110158", source="Orphanet:99942"} ! Charcot-Marie-tooth disease type 2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7225 {source="mim2gene_medgen"} ! MPZ property_value: confidence "16.49999999999997" xsd:double @@ -231284,6 +233754,7 @@ def: "gene (10q21.1), with a variable severity and age of onset (from infancy to subset: gard_rare {source="GARD:0009189"} subset: ordo_disease {source="Orphanet:101084"} synonym: "Charcot Marie Tooth disease type 1D" RELATED [GARD:0009189] +synonym: "Charcot-Marie-tooth disease type 1 caused by mutation in EGR2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1D" RELATED [GARD:0009189, MONDO:Lexical, OMIM:607678] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1D; CMT1D" RELATED [OMIM:607678] synonym: "Charcot-Marie-Tooth neuropathy type 1D" EXACT [DOID:0110150] @@ -231291,6 +233762,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 1D" RELATED [OMIM:607678] synonym: "CMT 1D" RELATED [GARD:0009189] synonym: "CMT1D" EXACT [DOID:0110150, Orphanet:101084] synonym: "CMT1D" RELATED [MONDO:Lexical, OMIM:607678] +synonym: "EGR2 Charcot-Marie-tooth disease type 1" EXACT [MONDO:design_pattern] synonym: "hereditary motor and sensory neuropathy 1D" EXACT [DOID:0110150, OMIM:607678] synonym: "HMSN 1D" RELATED [OMIM:607678] synonym: "HMSN ID" EXACT [DOID:0110150] @@ -231304,7 +233776,7 @@ xref: OMIM:607678 {source="Orphanet:101084", source="ORDO:101084/e", source="DOI xref: Orphanet:101084 {source="OMIM:607678", source="DOID:0110150", source="MONDO:equivalentTo"} xref: SCTID:719979008 {source="MONDO:kboom-pr-1.00/0.80/9.21", source="MONDO:equivalentTo"} xref: UMLS:C1843247 {source="NCBI:mim2gene_medline", source="Orphanet:101084", source="OMIM:607678", source="MEDGEN:kboom-pr98-c99", source="ORDO:101084/e", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C537985", source="MONDO:Redundant", source="OMIM:607678", source="Orphanet:101084/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110150/inferred", source="MESH:C537985", source="MONDO:Redundant", source="OMIM:607678", source="Orphanet:101084/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0019011 {source="DOID:0110150", source="Orphanet:101084", source="linkedlifedata"} ! Charcot-Marie-tooth disease type 1 intersection_of: MONDO:0019011 ! Charcot-Marie-tooth disease type 1 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3239 ! EGR2 @@ -231316,10 +233788,12 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9189/charcot- id: MONDO:0011891 name: epilepsy, childhood absence, susceptibility to, 2 def: "Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRG2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "childhood absence epilepsy caused by mutation in GABRG2" EXACT [MONDO:design_pattern] synonym: "ECA2" RELATED [MONDO:Lexical, OMIM:607681] synonym: "epilepsy, childhood absence, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:607681] synonym: "epilepsy, childhood absence, susceptibility to, 2; ECA2" RELATED [OMIM:607681] synonym: "epilepsy, childhood absence, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:607681] +synonym: "GABRG2 childhood absence epilepsy" EXACT [MONDO:design_pattern] synonym: "susceptibility to childhood absence epilepsy 2" RELATED [OMIM:607681] xref: OMIM:607681 {source="MONDO:equivalentTo"} xref: Orphanet:64280 {source="MONDO:subClassOf", source="OMIM:607681"} @@ -231334,11 +233808,13 @@ property_value: confidence "1.1309583424662981" xsd:double id: MONDO:0011892 name: epilepsy, idiopathic generalized, susceptibility to, 9 def: "Any generalised epilepsy in which the cause of the disease is a mutation in the CACNB4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CACNB4 generalised epilepsy" EXACT [MONDO:design_pattern] synonym: "EIG9" RELATED [MONDO:Lexical, OMIM:607682] synonym: "epilepsy, idiopathic generalized, susceptibility to, 9" EXACT [MONDO:Lexical, OMIM:607682] synonym: "epilepsy, idiopathic generalized, susceptibility to, 9; EIG9" RELATED [OMIM:607682] synonym: "epilepsy, idiopathic generalized, susceptibility to, type 9" EXACT [MONDORULE:1, OMIM:607682] synonym: "epilepsy, juvenile myoclonic, susceptibility to, 6" RELATED [OMIM:607682] +synonym: "generalised epilepsy caused by mutation in CACNB4" EXACT [MONDO:design_pattern] synonym: "susceptibility to idiopathic generalized epilepsy 9" RELATED [OMIM:607682] xref: OMIM:607682 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="MONDO:subClassOf", source="MONDO:superClassOf", source="OMIM:607682"} @@ -231376,12 +233852,14 @@ subset: gard_rare {source="GARD:0009193"} subset: ordo_disease {source="Orphanet:99939"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2E" EXACT [DOID:0110165] synonym: "Charcot Marie Tooth disease type 2E" RELATED [GARD:0009193] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in NEFL" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, type 2E" RELATED [GARD:0009193, MONDO:Lexical, OMIM:607684] synonym: "Charcot-Marie-Tooth disease, axonal, type 2E; CMT2E" RELATED [OMIM:607684] synonym: "Charcot-Marie-Tooth neuropathy type 2E" EXACT [DOID:0110165] synonym: "Charcot-Marie-Tooth neuropathy, type 2E" RELATED [OMIM:607684] synonym: "CMT 2E" RELATED [GARD:0009193] synonym: "CMT2E" EXACT [DOID:0110165, MONDO:Lexical, OMIM:607684, Orphanet:99939] +synonym: "NEFL Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110165 {source="MONDO:equivalentTo"} xref: GARD:0009193 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="DOID:0110165", source="ORDO:99939/attributed", source="ORDO:99939/ntbt", source="Orphanet:99939"} @@ -231391,7 +233869,7 @@ xref: OMIM:607684 {source="DOID:0110165", source="ORDO:99939/e", source="Orphane xref: Orphanet:99939 {source="DOID:0110165", source="OMIM:607684", source="MONDO:equivalentTo"} xref: SCTID:717012004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1843225 {source="NCBI:mim2gene_medline", source="NCIT:C134953", source="OMIM:607684", source="Orphanet:99939"} -is_a: MONDO:0015626 {source="MESH:C537994", source="MONDO:Redundant", source="NCIT:C134953", source="OMIM:607684", source="Orphanet:99939/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110165/inferred", source="MESH:C537994", source="MONDO:Redundant", source="NCIT:C134953", source="OMIM:607684", source="Orphanet:99939/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110165", source="Orphanet:99939"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7739 ! NEFL @@ -231419,6 +233897,8 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0011896 name: Parkinson disease 11, autosomal dominant, susceptibility to def: "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the GIGYF2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GIGYF2 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern] +synonym: "hereditary late onset Parkinson disease caused by mutation in GIGYF2" EXACT [MONDO:design_pattern] synonym: "PARK11" RELATED [MONDO:Lexical, OMIM:607688] synonym: "Parkinson disease 11, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:607688] synonym: "Parkinson disease 11, autosomal dominant, susceptibility to; PARK11" RELATED [OMIM:607688] @@ -231427,7 +233907,7 @@ xref: MESH:C564345 {source="MONDO:equivalentTo"} xref: OMIM:607688 {source="MONDO:equivalentTo"} xref: Orphanet:411602 {source="OMIM:607688", source="MONDO:subClassOf"} xref: UMLS:C1843211 {source="NCBI:mim2gene_medline", source="OMIM:607688", source="MONDO:equivalentTo"} -is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:607688"} ! Parkinson disease +is_a: MONDO:0005180 {source="MESH:C564345", source="MONDO:Redundant", source="OMIM:607688"} ! Parkinson disease is_a: MONDO:0018466 {source="ORDO:411602/btnt"} ! hereditary late onset Parkinson disease intersection_of: MONDO:0018466 ! hereditary late onset Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11960 ! GIGYF2 @@ -231469,7 +233949,7 @@ xref: SCTID:721846006 {source="MONDO:kboom-pr-0.69/0.37/0.09", source="MONDO:equ xref: UMLS:C1843200 {source="NCBI:mim2gene_medline"} xref: UMLS:C2676243 {source="OMIM:607694", source="Orphanet:137639"} is_a: MONDO:0017333 {source="Orphanet:137639"} ! hypomyelinating leukodystrophy with or without oligondontia and/or hypogonadism -is_a: MONDO:0019046 {source="MONDO:Redundant", source="OMIM:607694", source="Orphanet:137639/inferred", source="linkedlifedata"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0060794", source="DOID:0060794/inferred", source="MONDO:Redundant", source="OMIM:607694", source="Orphanet:137639/inferred", source="linkedlifedata"} ! leukodystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30074 {source="mim2gene_medgen"} ! POLR3A [Term] @@ -231511,7 +233991,7 @@ xref: OMIMPS:607721 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2701 {source="OMIM:607721", source="MONDO:equivalentTo"} xref: UMLS:C1843181 {source="NCBI:mim2gene_medline", source="OMIM:607721", source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} xref: UMLS:C3501846 {source="MEDGEN:kboom-pr87-c94", source="Orphanet:2701", source="MONDO:equivalentTo"} -is_a: MONDO:0004907 {source="Orphanet:2701"} ! alopecia +is_a: MONDO:0004907 {source="OMIM:607721/inferred", source="Orphanet:2701"} ! alopecia is_a: MONDO:0015160 {source="Orphanet:2701"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015218 {source="Orphanet:2701"} ! syndromic developmental defect of the eye is_a: MONDO:0016329 {source="Orphanet:2701", source="Orphanet:2701/inferred"} ! familial syndrome associated with hypertrophic cardiomyopathy @@ -231562,7 +234042,7 @@ xref: OMIM:607731 {source="DOID:0110166", source="Orphanet:101102", source="ORDO xref: Orphanet:101102 {source="DOID:0110166", source="OMIM:607731", source="MONDO:equivalentTo"} xref: SCTID:720637005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1843173 {source="NCBI:mim2gene_medline", source="OMIM:607731", source="MEDGEN:kboom-pr98-c99", source="Orphanet:101102", source="ORDO:101102/e", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C535415", source="MONDO:Redundant", source="OMIM:607731", source="Orphanet:101102/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110166/inferred", source="MESH:C535415", source="MONDO:Redundant", source="OMIM:607731", source="Orphanet:101102/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110166"} ! Charcot-Marie-tooth disease type 2 is_a: MONDO:0019601 {source="MONDOLEX:0011901", source="Orphanet:101102"} ! autosomal recessive axonal hereditary motor and sensory neuropathy property_value: confidence "19.912698412698415" xsd:double @@ -231574,12 +234054,14 @@ def: "gene (8p21.2)." [Orphanet:101085] subset: gard_rare {source="GARD:0009191"} subset: ordo_disease {source="Orphanet:101085"} synonym: "Charcot Marie Tooth disease type 1F" RELATED [GARD:0009191] +synonym: "Charcot-Marie-tooth disease type 1 caused by mutation in NEFL" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1F" RELATED [GARD:0009191, MONDO:Lexical, OMIM:607734] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 1F; CMT1F" RELATED [OMIM:607734] synonym: "Charcot-Marie-Tooth neuropathy type 1F" EXACT [DOID:0110149] synonym: "Charcot-Marie-Tooth neuropathy, type 1F" RELATED [OMIM:607734] synonym: "CMT 1F" RELATED [GARD:0009191] synonym: "CMT1F" EXACT [DOID:0110149, MONDO:Lexical, OMIM:607734, Orphanet:101085] +synonym: "NEFL Charcot-Marie-tooth disease type 1" EXACT [MONDO:design_pattern] xref: DOID:0110149 {source="MONDO:equivalentTo"} xref: GARD:0009191 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="ORDO:101085/attributed", source="Orphanet:101085", source="ORDO:101085/ntbt", source="DOID:0110149"} @@ -231588,7 +234070,7 @@ xref: OMIM:607734 {source="Orphanet:101085", source="DOID:0110149", source="ORDO xref: Orphanet:101085 {source="OMIM:607734", source="DOID:0110149", source="MONDO:equivalentTo"} xref: SCTID:719980006 {source="MONDO:kboom-pr-1.00/0.80/9.21", source="MONDO:equivalentTo"} xref: UMLS:C1843164 {source="NCBI:mim2gene_medline", source="Orphanet:101085", source="OMIM:607734", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C537987", source="MONDO:Redundant", source="OMIM:607734", source="Orphanet:101085/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110149/inferred", source="MESH:C537987", source="MONDO:Redundant", source="OMIM:607734", source="Orphanet:101085/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0019011 {source="DOID:0110149", source="Orphanet:101085", source="linkedlifedata"} ! Charcot-Marie-tooth disease type 1 intersection_of: MONDO:0019011 ! Charcot-Marie-tooth disease type 1 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7739 ! NEFL @@ -231620,7 +234102,7 @@ xref: OMIM:607736 {source="Orphanet:99943", source="DOID:0110157", source="ORDO: xref: Orphanet:99943 {source="DOID:0110157", source="OMIM:607736", source="MONDO:equivalentTo"} xref: SCTID:717014003 {source="MONDO:equivalentTo"} xref: UMLS:C1843153 {source="NCBI:mim2gene_medline", source="Orphanet:99943", source="OMIM:607736"} -is_a: MONDO:0015626 {source="MESH:C535417", source="MONDO:Redundant", source="OMIM:607736", source="Orphanet:99943/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110157/inferred", source="MESH:C535417", source="MONDO:Redundant", source="OMIM:607736", source="Orphanet:99943/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110157", source="Orphanet:99943"} ! Charcot-Marie-tooth disease type 2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7225 {source="mim2gene_medgen"} ! MPZ property_value: confidence "16.49999999999997" xsd:double @@ -231630,8 +234112,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9198/charcot- id: MONDO:0011904 name: seizures, benign familial infantile, 3 def: "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN2A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "benign familial infantile epilepsy caused by mutation in SCN2A" EXACT [MONDO:design_pattern] synonym: "BFIS3" RELATED [MONDO:Lexical, OMIM:607745] synonym: "convulsions, benign familial infantile, 3" RELATED [OMIM:607745] +synonym: "SCN2A benign familial infantile epilepsy" EXACT [MONDO:design_pattern] synonym: "seizures, benign familial infantile, 3" EXACT [MONDO:Lexical, OMIM:607745] synonym: "seizures, benign familial infantile, 3; BFIS3" RELATED [OMIM:607745] synonym: "seizures, benign familial infantile, type 3" EXACT [MONDORULE:1, OMIM:607745] @@ -231677,8 +234161,10 @@ synonym: "bile acid synthesis defect, congenital, 1" RELATED [MONDO:Lexical, OMI synonym: "bile acid synthesis defect, congenital, 1; CBAS1" RELATED [OMIM:607765] synonym: "bile acid synthesis defect, congenital, type 1" EXACT [MONDORULE:1, OMIM:607765] synonym: "CBAS1" EXACT [DOID:0111071, MONDO:Lexical, OMIM:607765] +synonym: "congenital bile acid synthesis defect caused by mutation in HSD3B7" EXACT [MONDO:design_pattern] synonym: "congenital bile acid synthesis defect type 1" EXACT [DOID:0111071, MONDORULE:1] synonym: "congenital bile acid synthesis defect, type 1" RELATED [GARD:0009813] +synonym: "HSD3B7 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern] xref: DOID:0111071 {source="MONDO:equivalentTo"} xref: GARD:0009813 {source="Orphanet-shared", source="MONDO:equivalentTo"} xref: ICD10:K76.8 {source="ORDO:79301/attributed", source="Orphanet:79301", source="DOID:0111071", source="ORDO:79301/ntbt"} @@ -231764,6 +234250,7 @@ def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type D is a ra subset: ordo_disease {source="Orphanet:100046"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type D" EXACT [DOID:0110200] synonym: "Charcot Marie Tooth disease dominant intermediate 3" RELATED [GARD:0009207] +synonym: "Charcot-Marie-tooth disease caused by mutation in MPZ" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease dominant intermediate type D" EXACT [DOID:0110200, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, dominant intermediate D" RELATED [MONDO:Lexical, OMIM:607791] synonym: "Charcot-Marie-Tooth disease, dominant intermediate D; CMTDID" RELATED [OMIM:607791] @@ -231773,6 +234260,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate D" RELATED [OMIM synonym: "CMTDID" EXACT [DOID:0110200, MONDO:Lexical, OMIM:607791, Orphanet:100046] synonym: "DI-CMTD" EXACT [DOID:0110200] synonym: "Di-Cmtd" RELATED [OMIM:607791] +synonym: "MPZ Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] synonym: "MPZ-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0009207] xref: DOID:0110200 {source="MONDO:equivalentTo"} xref: GARD:0009207 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -231781,7 +234269,7 @@ xref: MESH:C564333 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:607791 {source="DOID:0110200", source="ORDO:100046/e", source="Orphanet:100046", source="MONDO:equivalentTo"} xref: Orphanet:100046 {source="DOID:0110200", source="MONDO:equivalentTo", source="OMIM:607791"} xref: UMLS:C1843075 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="Orphanet:100046", source="MONDO:equivalentTo", source="OMIM:607791"} -is_a: MONDO:0015626 {source="MESH:C564333", source="MONDO:Redundant", source="OMIM:607791", source="Orphanet:100046/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110200/inferred", source="MESH:C564333", source="MONDO:Redundant", source="OMIM:607791", source="Orphanet:100046/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0019548 {source="MONDOLEX:0011909", source="Orphanet:100046"} ! autosomal dominant intermediate Charcot-Marie-tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7225 ! MPZ @@ -231793,6 +234281,8 @@ id: MONDO:0011910 name: autosomal dominant limb-girdle muscular dystrophy type 1C def: "Autosomal dominant limb-girdle muscular dystrophy type 1C (LGMD1C) is a subtype of autosomal dominant limb girdle muscular dystrophy characterized by a childhood to adulthood onset of progressive, mild-to-moderate proximal muscle weakness, calf hypertrophy, and variable muscle cramping/stiffness or myalgia, after exercise. A positive Gowers sign and elevated creatine kinase serum levels are frequently observed. Initial motor milestones are usually normal and muscle rippling may be observed. Respiratory and cardiac anomalies are generally not associated with LGMD1C." [Orphanet:265] subset: ordo_disease {source="Orphanet:265"} +synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in CAV3" EXACT [MONDO:design_pattern] +synonym: "CAV3 autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "LGMD1C" EXACT [DOID:0110302, MONDO:Lexical, OMIM:607801, Orphanet:265] synonym: "limb-girdle muscular dystrophy due to caveolin-3 deficiency" EXACT [DOID:0110302, Orphanet:265] synonym: "limb-girdle muscular dystrophy type 1C" RELATED [GARD:0012527] @@ -231841,11 +234331,13 @@ id: MONDO:0011912 name: autosomal recessive nonsyndromic deafness 37 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MYO6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 37" EXACT [DOID:0110495] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MYO6" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 37" EXACT [DOID:0110495, MONDORULE:2] synonym: "deafness, autosomal recessive 37" RELATED [MONDO:Lexical, OMIM:607821] synonym: "deafness, autosomal recessive 37; DFNB37" RELATED [OMIM:607821] synonym: "deafness, autosomal recessive type 37" EXACT [MONDORULE:2, OMIM:607821] synonym: "DFNB37" EXACT [DOID:0110495, MONDO:Lexical, OMIM:607821] +synonym: "MYO6 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110495 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110495"} xref: MESH:C564331 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -231875,6 +234367,8 @@ synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and apraxia" synonym: "Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques" RELATED [OMIM:607822] synonym: "Alzheimer's disease 3" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Alzheimer's disease type 3" EXACT [DOID:0110042, MONDORULE:1] +synonym: "early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1" EXACT [MONDO:design_pattern] +synonym: "PSEN1 early-onset autosomal dominant Alzheimer disease" EXACT [MONDO:design_pattern] xref: DOID:0110042 {source="MONDO:equivalentTo"} xref: GARD:0009468 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: NCIT:C123412 {source="MONDO:equivalentTo"} @@ -231882,7 +234376,7 @@ xref: OMIM:607822 {source="DOID:0110042", source="MONDO:equivalentTo"} xref: UMLS:C1843013 {source="NCBI:mim2gene_medline", source="OMIM:607822"} xref: UMLS:C1843014 {source="OMIM:607822"} xref: UMLS:C1843015 {source="OMIM:607822"} -is_a: MONDO:0004975 {source="NCIT:C123412"} ! Alzheimer disease +is_a: MONDO:0004975 {source="DOID:0110042", source="NCIT:C123412"} ! Alzheimer disease is_a: MONDO:0015140 {source="ORDO:1020/btnt", source="https://www.ncbi.nlm.nih.gov/books/NBK1236/"} ! early-onset autosomal dominant Alzheimer disease intersection_of: MONDO:0015140 ! early-onset autosomal dominant Alzheimer disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9508 ! PSEN1 @@ -231945,7 +234439,7 @@ xref: Orphanet:101097 {source="DOID:0110167", source="OMIM:607831", source="MOND xref: Orphanet:99944 {source="MONDO:directSiblingOf", source="OMIM:607831", source="MONDO:superClassOf"} xref: UMLS:C1842983 {source="NCBI:mim2gene_medline", source="Orphanet:101097", source="MEDGEN:kboom-pr98-c99", source="OMIM:607831", source="MONDO:equivalentTo"} xref: UMLS:C1842984 {source="MONDO:directSiblingOf", source="OMIM:607831"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:607831", source="Orphanet:101097/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110167/inferred", source="MONDO:Redundant", source="OMIM:607831", source="Orphanet:101097/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110167"} ! Charcot-Marie-tooth disease type 2 is_a: MONDO:0019601 {source="MONDO:Entailed", source="MONDOLEX:0011916", source="Orphanet:101097"} ! autosomal recessive axonal hereditary motor and sensory neuropathy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14201 {source="mim2gene_medgen"} ! JPH1 @@ -231956,8 +234450,10 @@ property_value: confidence "5.357142857142858" xsd:double id: MONDO:0011917 name: focal segmental glomerulosclerosis 3, susceptibility to def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CD2AP gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CD2AP focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis 3, susceptibility to" EXACT [MONDO:Lexical, OMIM:607832] synonym: "focal segmental glomerulosclerosis 3, susceptibility to; FSGS3" RELATED [OMIM:607832] +synonym: "focal segmental glomerulosclerosis caused by mutation in CD2AP" EXACT [MONDO:design_pattern] synonym: "FSGS3" RELATED [MONDO:Lexical, OMIM:607832] synonym: "glomerulosclerosis, focal segmental, 3, susceptibility to" RELATED [OMIM:607832] synonym: "susceptibility to focal segmental glomerulosclerosis 3" RELATED [OMIM:607832] @@ -231988,10 +234484,12 @@ id: MONDO:0011919 name: autoimmune disease, susceptibility to, 1 def: "Any autoimmune disease in which the cause of the disease is a mutation in the FOXD3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "AIS1" RELATED [MONDO:Lexical, OMIM:607836] +synonym: "autoimmune disease caused by mutation in FOXD3" EXACT [MONDO:design_pattern] synonym: "autoimmune disease susceptibility locus, chromosome 1P-Related" RELATED [OMIM:607836] synonym: "autoimmune disease, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:607836] synonym: "autoimmune disease, susceptibility to, 1; AIS1" RELATED [OMIM:607836] synonym: "autoimmune disease, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:607836] +synonym: "FOXD3 autoimmune disease" EXACT [MONDO:design_pattern] synonym: "susceptibility to autoimmune disease 1" RELATED [OMIM:607836] synonym: "vitiligo-associated multiple autoimmune disease susceptibility 2" RELATED [OMIM:607836] xref: OMIM:607836 {source="MONDO:equivalentTo"} @@ -232007,11 +234505,13 @@ id: MONDO:0011920 name: autosomal dominant nonsyndromic deafness 48 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MYO1A gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 48" EXACT [DOID:0110571] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MYO1A" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 48" EXACT [DOID:0110571, MONDORULE:2] synonym: "deafness, autosomal dominant 48" RELATED [MONDO:Lexical, OMIM:607841] synonym: "deafness, autosomal dominant 48; DFNA48" RELATED [OMIM:607841] synonym: "deafness, autosomal dominant type 48" EXACT [MONDORULE:2, OMIM:607841] synonym: "DFNA48" EXACT [DOID:0110571, MONDO:Lexical, OMIM:607841] +synonym: "MYO1A autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110571 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110571"} xref: MESH:C564322 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -232057,7 +234557,9 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0011923 name: osteoarthritis susceptibility 3 def: "Any osteoarthritis in which the cause of the disease is a mutation in the ASPN gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ASPN osteoarthritis" EXACT [MONDO:design_pattern] synonym: "OS3" RELATED [MONDO:Lexical, OMIM:607850] +synonym: "osteoarthritis caused by mutation in ASPN" EXACT [MONDO:design_pattern] synonym: "osteoarthritis of knee/hip" RELATED [OMIM:607850] synonym: "osteoarthritis susceptibility 3" EXACT [MONDO:Lexical, OMIM:607850] synonym: "osteoarthritis susceptibility 3; OS3" RELATED [OMIM:607850] @@ -232089,8 +234591,10 @@ def: "Congenital muscular dystrophy type 1A (MCD1A) belongs to a group of neurom subset: ordo_malformation_syndrome {source="Orphanet:258"} synonym: "CMD1A" EXACT [DOID:0110636, Orphanet:258] synonym: "congenital merosin-deficient muscular dystrophy type 1A" EXACT [DOID:0110636, MONDORULE:4] +synonym: "congenital muscular dystrophy caused by mutation in LAMA2" EXACT [MONDO:design_pattern] synonym: "congenital muscular dystrophy due to laminin alpha2 deficiency" EXACT [DOID:0110636, Orphanet:258] synonym: "congenital muscular dystrophy type 1A" RELATED [Orphanet:258] +synonym: "LAMA2 congenital muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "LAMA2-related muscular dystrophy" RELATED [GARD:0003843] synonym: "laminin alpha-2 deficiency" RELATED [GARD:0003843] synonym: "MDC1A" EXACT [DOID:0110636, MONDO:Lexical, OMIM:607855, Orphanet:258] @@ -232114,7 +234618,7 @@ xref: UMLS:C1263858 {source="NCIT:C118783", source="NCBI:mim2gene_medline", sour xref: UMLS:C1842898 {source="OMIM:607855"} is_a: MONDO:0016149 {source="Orphanet:258"} ! qualitative or quantitative defects of merosin is_a: MONDO:0019950 {source="DOID:0110636", source="MONDOLEX:0011925", source="Orphanet:258"} ! congenital muscular dystrophy -is_a: MONDO:0020121 {source="MONDO:Redundant", source="NCIT:C118783", source="Orphanet:258/inferred", source="linkedlifedata"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:0110636/inferred", source="MONDO:Redundant", source="NCIT:C118783", source="Orphanet:258/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy intersection_of: MONDO:0019950 ! congenital muscular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6482 ! LAMA2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6482 {source="mim2gene_medgen"} ! LAMA2 @@ -232224,9 +234728,11 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6082/chromoso id: MONDO:0011930 name: epilepsy, familial adult myoclonic, 2 def: "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the ADRA2B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ADRA2B epilepsy, familial adult myoclonic" EXACT [MONDO:design_pattern] synonym: "benign adult familial myoclonic epilepsy 2" RELATED [OMIM:607876] synonym: "cortical myoclonic tremor with epilepsy, familial, 2" RELATED [OMIM:607876] synonym: "cortical myoclonus and epilepsy, autosomal dominant" RELATED [OMIM:607876] +synonym: "epilepsy, familial adult myoclonic caused by mutation in ADRA2B" EXACT [MONDO:design_pattern] synonym: "epilepsy, familial adult myoclonic, 2" EXACT [MONDO:Lexical, OMIM:607876] synonym: "epilepsy, familial ADULT myoclonic, 2; FAME2" RELATED [OMIM:607876] synonym: "epilepsy, familial adult myoclonic, type 2" EXACT [MONDORULE:1, OMIM:607876] @@ -232257,9 +234763,11 @@ id: MONDO:0011932 name: hypotrichosis 6 def: "Any hypotrichosis in which the cause of the disease is a mutation in the DSG4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive localized hypotrichosis" EXACT [DOID:0110703] +synonym: "DSG4 hypotrichosis" EXACT [MONDO:design_pattern] synonym: "Htl" RELATED [OMIM:607903] synonym: "hypotrichosis 6" EXACT [MONDO:Lexical, OMIM:607903] synonym: "hypotrichosis 6; HYPT6" RELATED [OMIM:607903] +synonym: "hypotrichosis caused by mutation in DSG4" EXACT [MONDO:design_pattern] synonym: "hypotrichosis type 6" EXACT [DOID:0110703, MONDORULE:1, OMIM:607903] synonym: "hypotrichosis, localized, autosomal recessive" RELATED [OMIM:607903] synonym: "hypotrichosis, localized, autosomal recessive 1" EXACT [DOID:0110703, OMIM:607903] @@ -232273,7 +234781,7 @@ xref: MESH:C564312 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:607903 {source="DOID:0110703", source="MONDO:equivalentTo"} xref: Orphanet:55654 {source="OMIM:607903", source="MONDO:subClassOf"} xref: UMLS:C1842839 {source="NCBI:mim2gene_medline", source="OMIM:607903", source="MONDO:equivalentTo"} -is_a: MONDO:0003037 {source="MESH:C564312", source="MONDO:Redundant", source="OMIM:607903"} ! hypotrichosis +is_a: MONDO:0003037 {source="DOID:0110703", source="MESH:C564312", source="MONDO:Redundant", source="OMIM:607903"} ! hypotrichosis is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21307 ! DSG4 @@ -232285,13 +234793,13 @@ id: MONDO:0011933 name: ALG2-CDG def: "(9q31.1). Transmission is autosomal recessive." [Orphanet:79326] subset: ordo_disease {source="Orphanet:79326"} -synonym: "ALG2-CDG (CDG-Ii)" RELATED [GARD:0009836] +synonym: "ALG2-CDG (CDG-II)" RELATED [GARD:0009836] synonym: "carbohydrate deficient glycoprotein syndrome type II" EXACT [Orphanet:79326] synonym: "carbohydrate-deficient glycoprotein syndrome type 1I" RELATED [GARD:0009836] synonym: "CDG 1I" RELATED [GARD:0009836] -synonym: "CDG Ii" RELATED [OMIM:607906] +synonym: "CDG II" RELATED [OMIM:607906] synonym: "CDG syndrome type II" EXACT [Orphanet:79326] -synonym: "CDG-Ii" EXACT [Orphanet:79326] +synonym: "CDG-II" EXACT [Orphanet:79326] synonym: "CDG1I" EXACT [MONDO:Lexical, OMIM:607906, Orphanet:79326] synonym: "congenital disorder of glycosylation type 1i" EXACT [Orphanet:79326] synonym: "congenital disorder of glycosylation type II" EXACT [Orphanet:79326] @@ -232356,9 +234864,11 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9569/dermatof id: MONDO:0011935 name: retinitis pigmentosa 30 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the FSCN2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FSCN2 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "macular Degeneration" RELATED [OMIM:607921] synonym: "retinitis pigmentosa 30" EXACT [MONDO:Lexical, OMIM:607921] synonym: "retinitis pigmentosa 30; RP30" RELATED [OMIM:607921] +synonym: "retinitis pigmentosa caused by mutation in FSCN2" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 30" EXACT [DOID:0110406, MONDORULE:2, OMIM:607921] synonym: "RP 30" RELATED [GARD:0010401] synonym: "RP30" EXACT [DOID:0110406, MONDO:Lexical, OMIM:607921] @@ -232404,10 +234914,12 @@ property_value: confidence "25.875" xsd:double id: MONDO:0011937 name: peeling skin syndrome 4 def: "Any peeling skin syndrome in which the cause of the disease is a mutation in the CSTA gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CSTA peeling skin syndrome" EXACT [MONDO:design_pattern] synonym: "ichthyosis bullosa of Siemens-Like" RELATED [OMIM:607936] synonym: "ichthyosis, exfoliative, autosomal recessive" RELATED [OMIM:607936] synonym: "peeling skin syndrome 4" EXACT [MONDO:Lexical, OMIM:607936] synonym: "peeling skin syndrome 4; PSS4" RELATED [OMIM:607936] +synonym: "peeling skin syndrome caused by mutation in CSTA" EXACT [MONDO:design_pattern] synonym: "peeling skin syndrome type 4" EXACT [MONDORULE:1, OMIM:607936] synonym: "PSS4" RELATED [MONDO:Lexical, OMIM:607936] xref: MESH:C564309 {source="MONDO:equivalentTo"} @@ -232428,10 +234940,12 @@ name: atrial heart septal defect 2 def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ASD2" EXACT [DOID:0110107] synonym: "ASD2" RELATED [MONDO:Lexical, OMIM:607941] +synonym: "atrial heart septal defect caused by mutation in GATA4" EXACT [MONDO:design_pattern] synonym: "atrial heart septal defect type 2" EXACT [DOID:0110107, MONDORULE:1] synonym: "atrial septal defect 2" EXACT [DOID:0110107, MONDO:Lexical, OMIM:607941] synonym: "atrial septal defect 2; ASD2" RELATED [OMIM:607941] synonym: "atrial septal defect type 2" EXACT [MONDORULE:1, OMIM:607941] +synonym: "GATA4 atrial heart septal defect" EXACT [MONDO:design_pattern] xref: DOID:0110107 {source="MONDO:equivalentTo"} xref: ICD10:Q21.1 {source="DOID:0110107"} xref: MESH:C538263 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -232458,7 +234972,7 @@ xref: OMIM:607944 {source="MONDO:equivalentTo"} xref: Orphanet:50816 {source="OMIM:607944", source="MONDO:equivalentTo"} xref: SCTID:703523004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1842763 {source="NCBI:mim2gene_medline", source="OMIM:607944", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MESH:C564307/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C564307/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/124 {source="mim2gene_medgen"} ! ACP5 [Term] @@ -232598,10 +235112,12 @@ subset: ordo_malformation_syndrome {source="Orphanet:97249"} synonym: "cerebellar atrophy with progressive microcephaly" EXACT [Orphanet:97249] synonym: "cerebellar atrophy with progressive microcephaly" RELATED [OMIM:608027] synonym: "clam" EXACT [Orphanet:97249] +synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in PCLO" EXACT [MONDO:design_pattern] synonym: "PCH with optic atrophy" EXACT [Orphanet:97249] synonym: "Pch with optic atrophy" RELATED [OMIM:608027] synonym: "PCH without dyskinesia" EXACT [Orphanet:97249] synonym: "PCH3" EXACT [MONDO:Lexical, OMIM:608027, Orphanet:97249] +synonym: "PCLO non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern] synonym: "pontocerebellar hypoplasia, type 3" RELATED [MONDO:Lexical, OMIM:608027] synonym: "pontocerebellar hypoplasia, type 3; PCH3" RELATED [OMIM:608027] xref: DOID:0060272 {source="MONDO:equivalentTo"} @@ -232612,7 +235128,7 @@ xref: OMIM:608027 {source="Orphanet:97249", source="DOID:0060272", source="MONDO xref: Orphanet:97249 {source="DOID:0060272", source="OMIM:608027", source="MONDO:equivalentTo"} xref: SCTID:718609003 {source="MONDO:kboom-pr-1.00/0.80/10.13", source="MONDO:equivalentTo"} xref: UMLS:C1842687 {source="Orphanet:97249", source="NCBI:mim2gene_medline", source="DOID:0060272", source="MEDGEN:kboom-pr98-c99", source="OMIM:608027", source="MONDO:equivalentTo", source="ORDO:97249/e"} -is_a: MONDO:0020135 {source="DC-OMIM:608027", source="DOID:0060272", source="OMIM:608027", source="Orphanet:97249"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DC-OMIM:608027", source="DOID:0060272", source="OMIM:608027", source="Orphanet:97249", source="linkedlifedata"} ! non-syndromic pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! non-syndromic pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13406 ! PCLO relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13406 {source="mim2gene_medgen"} ! PCLO @@ -232661,7 +235177,9 @@ synonym: "ALS6" EXACT [DOID:0060198, MONDO:Lexical, OMIM:608030] synonym: "amyotrophic lateral sclerosis 6 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:608030] synonym: "amyotrophic lateral sclerosis 6 with or without frontotemporal dementia; ALS6" RELATED [OMIM:608030] synonym: "amyotrophic lateral sclerosis 6, with or without frontotemporal dementia" EXACT [DOID:0060198, OMIM:608030] +synonym: "amyotrophic lateral sclerosis caused by mutation in FUS" EXACT [MONDO:design_pattern] synonym: "autosomal recessive amyotrophic lateral sclerosis 6" EXACT [DOID:0060198, OMIM:608030] +synonym: "FUS amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0060198 {source="MONDO:equivalentTo"} xref: GARD:0009874 {source="MONDO:equivalentTo"} xref: MESH:C567699 {source="MONDO:equivalentTo"} @@ -232670,7 +235188,7 @@ xref: Orphanet:275872 {source="OMIM:608030", source="MONDO:subClassOf"} xref: Orphanet:803 {source="OMIM:608030", source="MONDO:subClassOf"} xref: UMLS:C1842675 {source="NCBI:mim2gene_medline", source="OMIM:608030"} xref: UMLS:C2750729 {source="OMIM:608030"} -is_a: MONDO:0004976 {source="MONDO:Redundant", source="OMIM:608030"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0060198", source="MESH:C567699", source="MONDO:Redundant", source="OMIM:608030"} ! amyotrophic lateral sclerosis is_a: MONDO:0005145 ! sporadic amyotrophic lateral sclerosis is_a: MONDO:0017161 {source="ORDO:275872/btnt"} ! frontotemporal dementia with motor neuron disease intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis @@ -232872,6 +235390,7 @@ synonym: "endometrium cancer" EXACT [MONDO:patterns/location] synonym: "malignant endometrial neoplasm" EXACT [DOID:1380, NCIT:C27815] synonym: "malignant endometrium neoplasm" EXACT [MONDO:patterns/cancer] synonym: "malignant neoplasm of endometrium" EXACT [DOID:1380, MONDO:patterns/cancer] +synonym: "neoplasm of endometrium" EXACT [DOID:1380] synonym: "neoplasm of endometrium (disorder)" EXACT [DOID:1380, SCTID:123844007] synonym: "primary malignant neoplasm of endometrium" EXACT [DOID:1380, SCTID:93781006] synonym: "tumor of endometrium" EXACT [DOID:1380, NCIT:C3012] @@ -232909,7 +235428,9 @@ synonym: "CORS2" EXACT [DOID:0110988] synonym: "JBTS2" EXACT [DOID:0110988, MONDO:Lexical, OMIM:608091] synonym: "Joubert syndrome 2" EXACT [MONDO:Lexical, OMIM:608091] synonym: "Joubert syndrome 2; JBTS2" RELATED [OMIM:608091] +synonym: "Joubert syndrome caused by mutation in TMEM216" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 2" EXACT [DOID:0110988, MONDORULE:1, OMIM:608091] +synonym: "TMEM216 Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110988 {source="MONDO:equivalentTo"} xref: GARD:0010167 {source="MONDO:equivalentTo"} xref: MESH:C536294 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -232951,7 +235472,7 @@ xref: Orphanet:86309 {source="OMIM:608093", source="MONDO:equivalentTo"} xref: UMLS:C1842572 {source="NCBI:mim2gene_medline"} xref: UMLS:C2931004 {source="Orphanet:86309", source="OMIM:608093", source="MEDGEN:kboom-pr98-c99", source="NCIT:C126874", source="MONDO:equivalentTo"} is_a: MONDO:0005500 {source="DC-OMIM:608093", source="MONDOLEX:0011964"} ! congenital disorder of glycosylation type I -is_a: MONDO:0015286 {source="MESH:C535748", source="MONDO:0011964/inferred", source="MONDO:Redundant", source="MONDOLEX:0011964/inferred", source="OMIM:608093", source="Orphanet:86309/inferred"} ! congenital disorder of glycosylation +is_a: MONDO:0015286 {source="MESH:C535748", source="MONDO:0011964/inferred", source="MONDO:Redundant", source="MONDOLEX:0011964/inferred", source="NCIT:C126874", source="OMIM:608093", source="Orphanet:86309/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:86309"} ! disorder of protein N-glycosylation is_a: MONDO:0018286 {source="Orphanet:86309"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature is_a: MONDO:0018287 {source="Orphanet:86309"} ! congenital disorder of glycosylation with epilepsy as a major feature @@ -232979,7 +235500,7 @@ xref: OMIM:608096 {source="Orphanet:98819", source="DOID:0060755", source="MONDO xref: OMIM:611631 {source="Orphanet:98819", source="MONDO:superClassOf", source="ORDO:98819/btnt"} xref: Orphanet:98819 {source="OMIM:608096", source="DOID:0060755", source="MONDO:equivalentTo"} xref: UMLS:C1842564 {source="NCBI:mim2gene_medline", source="OMIM:608096", source="Orphanet:98819", source="ORDO:98819/e"} -is_a: MONDO:0005115 {source="DC-OMIM:608096", source="DOID:0060755", source="OMIM:608096"} ! temporal lobe epilepsy +is_a: MONDO:0005115 {source="DC-OMIM:608096", source="DOID:0060755", source="MESH:C536956", source="OMIM:608096"} ! temporal lobe epilepsy is_a: MONDO:0017704 {source="Orphanet:98819"} ! familial partial epilepsy property_value: confidence "1.4868421052631575" xsd:double @@ -233020,6 +235541,7 @@ def: "Autosomal recessive limb-girdle muscular dystrophy type 2D (LGMD2D) is a s subset: ordo_disease {source="Orphanet:62"} synonym: "Adhalinopathy, primary" RELATED [OMIM:608099] synonym: "Alpha-sarcoglycanopathy" EXACT [DOID:0110278, Orphanet:62] +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in SGCA" EXACT [MONDO:design_pattern] synonym: "DMDA2" EXACT [DOID:0110278] synonym: "Duchenne-like autosomal recessive muscular dystrophy type 2" EXACT [DOID:0110278] synonym: "Duchenne-Like autosomal recessive muscular dystrophy, type 2" RELATED [OMIM:608099] @@ -233032,6 +235554,7 @@ synonym: "muscular dystrophy limb-girdle with alpha-sarcoglycan" RELATED [GARD:0 synonym: "muscular dystrophy, limb-girdle, type 2D" EXACT [DOID:0110278, MONDO:Lexical, OMIM:608099] synonym: "muscular dystrophy, limb-girdle, type 2D; LGMD2D" RELATED [OMIM:608099] synonym: "primary adhalinopathy" EXACT [DOID:0110278] +synonym: "SGCA autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110278 {source="MONDO:equivalentTo"} xref: GARD:0000438 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G71.0 {source="Orphanet:62", source="DOID:0110278", source="ORDO:62/inclusion", source="ORDO:62/ntbt", source="MONDO:subClassOf"} @@ -233044,7 +235567,7 @@ xref: UMLS:C2936332 {source="Orphanet:62", source="ORDO:62/e"} is_a: MONDO:0015152 {source="DOID:0110278", source="MONDOLEX:0011968", source="OMIM:608099", source="Orphanet:62"} ! autosomal recessive limb-girdle muscular dystrophy is_a: MONDO:0016141 {source="MONDOLEX:0011968", source="Orphanet:62"} ! qualitative or quantitative defects of alpha-sarcoglycan is_a: MONDO:0016334 {source="Orphanet:62"} ! neuromuscular disease with dilated cardiomyopathy -is_a: MONDO:0016971 {source="MONDO:Redundant", source="NCIT:C142081", source="Orphanet:62/inferred"} ! limb-girdle muscular dystrophy +is_a: MONDO:0016971 {source="DOID:0110278/inferred", source="MONDO:Redundant", source="NCIT:C142081", source="Orphanet:62/inferred"} ! limb-girdle muscular dystrophy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10805 ! SGCA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10805 {source="mim2gene_medgen"} ! SGCA @@ -233076,7 +235599,7 @@ xref: SCTID:720977000 {source="MONDO:kboom-pr-1.00/0.80/8.83", source="MONDO:equ xref: UMLS:C1842539 {source="NCBI:mim2gene_medline"} xref: UMLS:C2931002 {source="Orphanet:79325", source="MEDGEN:kboom-pr98-c99", source="OMIM:608104", source="MONDO:equivalentTo"} is_a: MONDO:0005500 {source="DC-OMIM:608104", source="MONDOLEX:0011969"} ! congenital disorder of glycosylation type I -is_a: MONDO:0015286 {source="MESH:C535746", source="MONDO:0011969/inferred", source="MONDO:Redundant", source="MONDOLEX:0011969/inferred", source="OMIM:608104", source="Orphanet:79325/inferred", source="linkedlifedata"} ! congenital disorder of glycosylation +is_a: MONDO:0015286 {source="MESH:C535746", source="MONDO:0011969/inferred", source="MONDO:Redundant", source="MONDOLEX:0011969/inferred", source="OMIM:608104", source="Orphanet:79325/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79325"} ! disorder of protein N-glycosylation is_a: MONDO:0018286 {source="Orphanet:79325"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature is_a: MONDO:0018288 {source="Orphanet:79325"} ! congenital disorder of glycosylation with hepatic involvement @@ -233110,11 +235633,13 @@ synonym: "HIGM5" EXACT [DOID:0060759, Orphanet:101092] synonym: "HIGM5" RELATED [MONDO:Lexical, OMIM:608106] synonym: "hyper IgM syndrome 5" RELATED [GARD:0010581] synonym: "hyper-IgM syndrome 5" EXACT [DOID:0060759, OMIM:608106] +synonym: "hyper-IgM syndrome caused by mutation in UNG" EXACT [MONDO:design_pattern] synonym: "hyper-IgM syndrome due to UNG deficiency" EXACT [DOID:0060759, Orphanet:101092] synonym: "hyper-IgM syndrome due to uracil N-glycosylase" EXACT [DOID:0060759, Orphanet:101092] synonym: "immunodeficiency with hyper IgM type 5" RELATED [DOID:0060759] synonym: "immunodeficiency with hyper-IgM, type 5" RELATED [MONDO:Lexical, OMIM:608106] synonym: "immunodeficiency with hyper-IgM, type 5; HIGM5" RELATED [OMIM:608106] +synonym: "UNG hyper-IgM syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060759 {source="MONDO:equivalentTo"} xref: GARD:0010581 {source="MONDO:equivalentTo"} xref: ICD10:D80.5 {source="Orphanet:101092", source="DOID:0060759", source="ORDO:101092/ntbt", source="ORDO:101092/attributed"} @@ -233148,7 +235673,7 @@ xref: OMIM:608115 {source="DOID:5425", source="Orphanet:64739", source="ORDO:647 xref: Orphanet:64739 {source="OMIM:608115", source="MONDO:equivalentTo"} xref: SCTID:129635004 {source="DOID:5425", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0085083 {source="DOID:5425", source="Orphanet:64739", source="NCBI:mim2gene_medline", source="ORDO:64739/e", source="OMIM:608115", source="MONDO:equivalentTo"} -is_a: MONDO:0005558 {source="DOID:5425", source="MESH:D016471"} ! ovarian disease +is_a: MONDO:0005558 {source="DOID:5425", source="MESH:D016471", source="linkedlifedata"} ! ovarian disease is_a: MONDO:0015875 {source="Orphanet:64739"} ! rare non-malformative uterine adnexal disease is_a: MONDO:0015980 {source="MONDO:Entailed", source="Orphanet:64739"} ! rare genetic gynecological and obstetrical diseases relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3969 {source="mim2gene_medgen"} ! FSHR @@ -233356,6 +235881,8 @@ id: MONDO:0011984 name: synpolydactyly type 2 def: "Any non-syndromic synpolydactyly in which the cause of the disease is a mutation in the FBLN1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:295197"} +synonym: "FBLN1 non-syndromic synpolydactyly" EXACT [MONDO:design_pattern] +synonym: "non-syndromic synpolydactyly caused by mutation in FBLN1" EXACT [MONDO:design_pattern] synonym: "SD2, Debeer type" EXACT [Orphanet:295197] synonym: "SD2b" EXACT [Orphanet:295197] synonym: "SPD, Debeer type" EXACT [Orphanet:295197] @@ -233431,9 +235958,11 @@ name: cone-rod dystrophy 13 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RPGRIP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 13" EXACT [MONDO:Lexical, OMIM:608194] synonym: "cone-ROD dystrophy 13; CORD13" RELATED [OMIM:608194] +synonym: "cone-rod dystrophy caused by mutation in RPGRIP1" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 13" EXACT [MONDORULE:2, OMIM:608194] synonym: "cone-rod dystrophy type 13" EXACT [DOID:0111016, MONDORULE:2] synonym: "CORD13" EXACT [DOID:0111016, MONDO:Lexical, OMIM:608194] +synonym: "RPGRIP1 cone-rod dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0111016 {source="MONDO:equivalentTo"} xref: MESH:C567698 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:608194 {source="DOID:0111016", source="MONDO:equivalentTo"} @@ -233491,7 +236020,7 @@ xref: SCTID:266206004 {source="DOID:9065"} xref: SCTID:80612004 {source="EFO:0005044", source="MONDO:equivalentTo", source="DOID:9065", source="MONDO:kboom-pr-0.84/0.68/0.08"} xref: UMLS:C0023281 {source="ORDO:507/e", source="Orphanet:507", source="MONDO:equivalentTo", source="DOID:9065", source="NCIT:C34767"} is_a: MONDO:0002428 {source="DOID:9065", source="MESH:D007896/inferred"} ! protozoa infectious disease -is_a: MONDO:0005135 {source="EFO:0005044", source="MESH:D007896/inferred", source="MONDO:Redundant", source="NCIT:C34767", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0005135 {source="DOID:9065/inferred", source="EFO:0005044", source="MESH:D007896/inferred", source="MONDO:Redundant", source="NCIT:C34767", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection is_a: MONDO:0015577 {source="Orphanet:507"} ! rare parasitic disease property_value: confidence "1.0" xsd:double @@ -233549,7 +236078,7 @@ xref: Orphanet:101005 {source="DOID:0110776", source="MONDO:equivalentTo", sourc xref: UMLS:C2936860 {source="NCBI:mim2gene_medline", source="Orphanet:101005", source="ORDO:101005/e", source="MONDO:equivalentTo", source="OMIM:608220", source="MEDGEN:kboom-pr92-c96"} xref: UMLS:C4518003 {source="MEDGEN:kboom-pr96-c96", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:101005"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:608220", source="Orphanet:101005/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110776", source="MESH:C536861", source="MONDO:Redundant", source="OMIM:608220", source="Orphanet:101005/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.61111111111111" xsd:double [Term] @@ -233567,11 +236096,13 @@ id: MONDO:0011994 name: autosomal dominant nonsyndromic deafness 41 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the P2RX2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 41" EXACT [DOID:0110567] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in P2RX2" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 41" EXACT [DOID:0110567, MONDORULE:2] synonym: "deafness, autosomal dominant 41" RELATED [MONDO:Lexical, OMIM:608224] synonym: "deafness, autosomal dominant 41; DFNA41" RELATED [OMIM:608224] synonym: "deafness, autosomal dominant type 41" EXACT [MONDORULE:2, OMIM:608224] synonym: "DFNA41" EXACT [DOID:0110567, MONDO:Lexical, OMIM:608224] +synonym: "P2RX2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110567 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110567"} xref: MESH:C564272 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -233656,9 +236187,11 @@ name: Hermansky-Pudlak syndrome 2 def: "Hermansky-Pudlak syndrome type 2 (HPS-2) is a type of Hermansky-Pudlak syndrome (HPS; see this term), a multi-system disorder characterized by oculocutaneous albinism, bleeding diathesis and neutropenia." [Orphanet:183678] subset: gard_rare {source="GARD:0009435"} subset: ordo_clinical_subtype {source="Orphanet:183678"} +synonym: "AP3B1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern] synonym: "Hermansky Pudlak syndrome 2" RELATED [GARD:0009435] synonym: "Hermansky-Pudlak syndrome 2" EXACT [MONDO:Lexical, OMIM:608233] synonym: "Hermansky-Pudlak syndrome 2; HPS2" RELATED [OMIM:608233] +synonym: "Hermansky-Pudlak syndrome caused by mutation in AP3B1" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 2" EXACT [DOID:0060540, MONDORULE:1, OMIM:608233, Orphanet:183678] synonym: "Hermansky-Pudlak syndrome with neutropenia" RELATED [Orphanet:183678] synonym: "HPS2" EXACT [MONDO:Lexical, OMIM:608233, Orphanet:183678] @@ -233674,7 +236207,7 @@ xref: Orphanet:79430 {source="MONDO:subClassOf", source="OMIM:608233"} xref: UMLS:C1842362 {source="NCBI:mim2gene_medline", source="Orphanet:183678", source="MEDGEN:kboom-pr98-c99", source="OMIM:608233", source="MONDO:equivalentTo"} is_a: MONDO:0018032 {source="Orphanet:183678"} ! constitutional neutropenia with extra-hematopoietic manifestations is_a: MONDO:0018042 {source="Orphanet:183678"} ! immunodeficiency syndrome with abnormal pigmentation -is_a: MONDO:0019312 {source="DC-OMIM:608233", source="DOID:0060540", source="MESH:C537709", source="OMIM:608233", source="Orphanet:183678"} ! Hermansky-Pudlak syndrome +is_a: MONDO:0019312 {source="DC-OMIM:608233", source="DOID:0060540", source="MESH:C537709", source="NCIT:C150368", source="OMIM:608233", source="Orphanet:183678"} ! Hermansky-Pudlak syndrome is_a: MONDO:0020244 {source="Orphanet:183678"} ! unclassified primitive or secondary maculopathy intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/566 ! AP3B1 @@ -233710,7 +236243,7 @@ xref: OMIM:608244 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:608244"} xref: UMLS:C1842353 {source="NCBI:mim2gene_medline", source="OMIM:608244", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0005349 {source="DC-OMIM:608244", source="OMIM:608244"} ! otosclerosis (disease) +is_a: MONDO:0005349 {source="DC-OMIM:608244", source="MESH:C564268", source="OMIM:608244"} ! otosclerosis (disease) [Term] id: MONDO:0012000 @@ -233729,7 +236262,7 @@ xref: OMIM:608251 {source="DOID:599", source="MONDO:equivalentTo"} xref: SCTID:192396001 {source="DOID:599"} xref: SCTID:54587008 {source="DOID:599", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0236801 {source="OMIM:608251", source="NCIT:C35284", source="NCBI:mim2gene_medline", source="DOID:599"} -is_a: MONDO:0003699 {source="DOID:599", source="EFO:1001918", source="MESH:C562465", source="linkedlifedata"} ! phobic disorder +is_a: MONDO:0003699 {source="DOID:599", source="EFO:1001918", source="MESH:C562465", source="NCIT:C35284", source="linkedlifedata"} ! phobic disorder is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -233764,11 +236297,13 @@ name: autosomal recessive nonsyndromic deafness 39 def: "An autosomal recessive disorder caused by mutations in the HGF gene, encoding hepatocyte growth factor receptor. It is characterized by profound deafness." [NCIT:C129874] subset: clingen synonym: "autosomal recessive deafness 39" EXACT [DOID:0110497] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in HGF" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 39" EXACT [DOID:0110497, MONDORULE:2] synonym: "deafness, autosomal recessive 39" RELATED [MONDO:Lexical, OMIM:608265] synonym: "deafness, autosomal recessive 39; DFNB39" RELATED [OMIM:608265] synonym: "deafness, autosomal recessive type 39" EXACT [MONDORULE:2, OMIM:608265] synonym: "DFNB39" EXACT [DOID:0110497, MONDO:Lexical, OMIM:608265] +synonym: "HGF autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110497 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110497"} xref: MESH:C564265 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -233798,6 +236333,7 @@ synonym: "carcinoma of the parathyroid" EXACT [NCIT:C4906] synonym: "carcinoma of the parathyroid gland" EXACT [NCIT:C4906] synonym: "malignant neoplasm of parathyroid gland" EXACT [DOID:1540, ICD9CM_2006:194.1, SCTID:93943008] synonym: "malignant neoplasm of the parathyroid" EXACT [DOID:1540, NCIT:C9322] +synonym: "malignant tumor of parathyroid gland" EXACT [DOID:1540] synonym: "malignant tumor of parathyroid gland (disorder)" EXACT [DOID:1540, SCTID:363481002] synonym: "neoplasm of parathyroid gland" EXACT [DOID:1540, SCTID:127020005] synonym: "parathyroid adenocarcinoma" EXACT [NCIT:C4906] @@ -233834,8 +236370,8 @@ is_a: MONDO:0004970 {source="MONDOLEX:0012004", source="NCIT:C4906"} ! adenocarc is_a: MONDO:0004993 {source="DOID:1540", source="EFO:1000456", source="MONDO:0012004/inferred", source="MONDO:Redundant", source="MONDOLEX:0012004/inferred", source="NCIT:C4906/inferred", source="linkedlifedata"} ! carcinoma is_a: MONDO:0015076 {source="MONDO:Entailed", source="Orphanet:143"} ! rare parathyroid tumor is_a: MONDO:0019041 {source="OWLReasoner:2017"} ! rare genetic inherited tumor -is_a: MONDO:0021069 {source="MONDO:Redundant", source="NCIT:C4906", source="OWLReasoner:2017"} ! malignant endocrine neoplasm -is_a: MONDO:0021311 {source="MONDO:Entailed", source="MONDOLEX:0012004", source="NCIT:C4906", source="ONCOTREE:PTHC", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! malignant tumor of parathyroid gland +is_a: MONDO:0021069 {source="DOID:1540", source="MONDO:Redundant", source="NCIT:C4906", source="OWLReasoner:2017"} ! malignant endocrine neoplasm +is_a: MONDO:0021311 {source="MONDO:Entailed", source="MONDOLEX:0012004", source="NCIT:C4906", source="ONCOTREE:PTHC", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant tumor of parathyroid gland intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001132 ! parathyroid gland relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16783 {source="mim2gene_medgen"} ! CDC73 @@ -233916,10 +236452,12 @@ id: MONDO:0012011 name: coronary artery disease, autosomal dominant, 1 def: "Any coronary artery disease in which the cause of the disease is a mutation in the MEF2A gene." [MONDO:patterns/disease_series_by_gene] synonym: "ADCAD1" RELATED [MONDO:Lexical, OMIM:608320] +synonym: "coronary artery disease caused by mutation in MEF2A" EXACT [MONDO:design_pattern] synonym: "coronary artery disease with myocardial infarction" RELATED [OMIM:608320] synonym: "coronary artery disease, autosomal dominant, 1" EXACT [MONDO:Lexical, OMIM:608320] synonym: "coronary artery disease, autosomal dominant, 1; ADCAD1" RELATED [OMIM:608320] synonym: "coronary artery disease, autosomal dominant, type 1" EXACT [MONDORULE:1, OMIM:608320] +synonym: "MEF2A coronary artery disease" EXACT [MONDO:design_pattern] xref: MESH:C564258 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:608320 {source="MONDO:equivalentTo"} xref: UMLS:C1842247 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608320"} @@ -233936,6 +236474,7 @@ name: Charcot-Marie-tooth disease dominant intermediate c def: "Autosomal dominant intermediate Charcot-Marie-Tooth disease type C is a rare hereditary motor and sensory neuropathy characterized by intermediate motor median nerve conduction velocities (usually between 25 and 60 m/s). It presents with moderately severe, slowly progressive usual clinical features of Charcot-Marie-Tooth disease (muscle weakness and atrophy of the distal extremities, distal sensory loss, reduced or absent deep tendon reflexes, feet deformities, extensor digitorum brevis atrophy). Findings in nerve biopsies include age-dependent axonal degeneration, reduced number of large myelinated fibres, segmental remyelination, and no onion bulbs." [Orphanet:100045] subset: ordo_disease {source="Orphanet:100045"} synonym: "autosomal dominant intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110199] +synonym: "Charcot-Marie-tooth disease caused by mutation in YARS" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease dominant intermediate type C" EXACT [DOID:0110199, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, dominant intermediate C" RELATED [MONDO:Lexical, OMIM:608323] synonym: "Charcot-Marie-Tooth disease, dominant intermediate C; CMTDIC" RELATED [OMIM:608323] @@ -233945,6 +236484,7 @@ synonym: "Charcot-Marie-Tooth neuropathy, dominant Intermediate C" RELATED [OMIM synonym: "CMTDIC" EXACT [DOID:0110199, MONDO:Lexical, OMIM:608323, Orphanet:100045] synonym: "DI-CMTC" EXACT [DOID:0110199] synonym: "Di-Cmtc" RELATED [OMIM:608323] +synonym: "YARS Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] synonym: "YARS-related intermediate Charcot-Marie-Tooth neuropathy" RELATED [GARD:0012439] xref: DOID:0110199 {source="MONDO:equivalentTo"} xref: GARD:0012439 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -233953,7 +236493,7 @@ xref: MESH:C564257 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:608323 {source="DOID:0110199", source="Orphanet:100045", source="ORDO:100045/e", source="MONDO:equivalentTo"} xref: Orphanet:100045 {source="DOID:0110199", source="OMIM:608323", source="MONDO:equivalentTo"} xref: UMLS:C1842237 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="Orphanet:100045", source="OMIM:608323", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C564257", source="MONDO:Redundant", source="OMIM:608323", source="Orphanet:100045/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110199/inferred", source="MESH:C564257", source="MONDO:Redundant", source="OMIM:608323", source="Orphanet:100045/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0019548 {source="MONDOLEX:0012012", source="Orphanet:100045"} ! autosomal dominant intermediate Charcot-Marie-tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12840 ! YARS @@ -233995,6 +236535,7 @@ name: Charcot-Marie-tooth disease recessive intermediate a def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type A is a subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by severe, early childhood-onset CMT neuropathy with prominent pes equinovarus deformity and impairment of hand muscles. Nerve conduction velocities usually range between 25-35 m/s and both axonal and demyelinating changes are observed on peripheral nerve pathology." [Orphanet:217055] subset: ordo_disease {source="Orphanet:217055"} synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type A" EXACT [DOID:0110201] +synonym: "Charcot-Marie-tooth disease caused by mutation in GDAP1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease recessive intermediate type A" EXACT [DOID:0110201, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, recessive intermediate A" RELATED [MONDO:Lexical, OMIM:608340] synonym: "Charcot-Marie-Tooth disease, recessive intermediate A; CMTRIA" RELATED [OMIM:608340] @@ -234003,6 +236544,7 @@ synonym: "Charcot-Marie-Tooth disease, recessive intermediate, A" RELATED [GARD: synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate A" EXACT [DOID:0110201] synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate a" RELATED [OMIM:608340] synonym: "CMTRIA" EXACT [DOID:0110201, MONDO:Lexical, OMIM:608340] +synonym: "GDAP1 Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] synonym: "RI-CMT type A" EXACT [Orphanet:217055] synonym: "RI-CMTA" EXACT [DOID:0110201] synonym: "Ri-Cmta" RELATED [OMIM:608340] @@ -234013,7 +236555,7 @@ xref: MESH:C564256 {source="MONDO:equivalentTo"} xref: OMIM:608340 {source="DOID:0110201", source="Orphanet:217055", source="ORDO:217055/e", source="MONDO:equivalentTo"} xref: Orphanet:217055 {source="OMIM:608340", source="DOID:0110201", source="MONDO:equivalentTo"} xref: UMLS:C1842197 {source="OMIM:608340", source="NCBI:mim2gene_medline", source="Orphanet:217055", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:608340", source="Orphanet:217055/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110201/inferred", source="MESH:C564256", source="MONDO:Redundant", source="OMIM:608340", source="Orphanet:217055/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0017058 {source="MONDOLEX:0012014", source="Orphanet:217055"} ! autosomal recessive intermediate Charcot-Marie-tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15968 ! GDAP1 @@ -234031,7 +236573,7 @@ xref: MESH:C537855 {source="MONDO:equivalentTo"} xref: OMIM:608345 {source="MONDO:equivalentTo"} xref: Orphanet:651 {source="OMIM:608345"} xref: UMLS:C1842186 {source="NCBI:mim2gene_medline", source="OMIM:608345", source="MONDO:equivalentTo"} -is_a: MONDO:0005712 {source="DC-OMIM:608345", source="OMIM:608345"} ! congenital nystagmus +is_a: MONDO:0005712 {source="DC-OMIM:608345", source="MESH:C537855", source="OMIM:608345"} ! congenital nystagmus property_value: confidence "5.0" xsd:double [Term] @@ -234056,7 +236598,7 @@ xref: SCTID:703533007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C1842180 {source="NCBI:mim2gene_medline", source="Orphanet:137667", source="OMIM:608354"} xref: UMLS:C2675370 {source="OMIM:608354"} is_a: MONDO:0016229 {source="Orphanet:137667"} ! genetic vascular anomaly -is_a: MONDO:0016231 {source="Orphanet:137667", source="linkedlifedata"} ! capillary malformation +is_a: MONDO:0016231 {source="Orphanet:137667", source="linkedlifedata", source="linkedlifedata/inferred"} ! capillary malformation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9871 {source="mim2gene_medgen"} ! RASA1 property_value: confidence "7.125" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11904/capillary-malformation-arteriovenous-malformation-syndrome xsd:anyURI {source="GARD:0011904"} @@ -234170,7 +236712,7 @@ is_a: MONDO:0003847 ! inherited genetic disease [Term] id: MONDO:0012022 name: OFC4 -synonym: "cleft 51P with or without cleft palate, nonsyndromic, 4" RELATED [OMIM:608371] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 4" RELATED [OMIM:608371] synonym: "OFC4" EXACT [MONDO:Lexical, OMIM:608371] synonym: "orofacial cleft 4" RELATED [MONDO:Lexical, OMIM:608371] synonym: "orofacial cleft 4; OFC4" RELATED [OMIM:608371] @@ -234179,10 +236721,7 @@ xref: OMIM:608371 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:608371", source="MONDO:subClassOf"} xref: UMLS:C1842143 {source="NCBI:mim2gene_medline", source="OMIM:608371", source="MONDO:equivalentTo"} is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:608371"} ! orofacial cleft -is_a: MONDO:0015420 ! cleft lip and alveolus -is_a: MONDO:0016043 ! isolated cleft lip -is_a: MONDO:0016044 ! cleft lip/palate -property_value: confidence "1.7876687750502525" xsd:double +relationship: has_modifier MONDO:0021128 ! has an isolated presentation [Term] id: MONDO:0012023 @@ -234205,8 +236744,10 @@ id: MONDO:0012024 name: retinitis pigmentosa 26 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CERKL gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010397"} +synonym: "CERKL retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 26" EXACT [MONDO:Lexical, OMIM:608380] synonym: "retinitis pigmentosa 26; RP26" RELATED [OMIM:608380] +synonym: "retinitis pigmentosa caused by mutation in CERKL" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 26" EXACT [DOID:0110368, MONDORULE:2, OMIM:608380] synonym: "RP 26" RELATED [GARD:0010397] synonym: "RP26" EXACT [DOID:0110368, MONDO:Lexical, OMIM:608380] @@ -234230,7 +236771,9 @@ synonym: "bo syndrome 3" RELATED [OMIM:608389] synonym: "BOS3" RELATED [MONDO:Lexical, OMIM:608389] synonym: "branchiootic syndrome 3" EXACT [MONDO:Lexical, OMIM:608389] synonym: "branchiootic syndrome 3; BOS3" RELATED [OMIM:608389] +synonym: "branchiootic syndrome caused by mutation in SIX1" EXACT [MONDO:design_pattern] synonym: "branchiootic syndrome type 3" EXACT [MONDORULE:1, OMIM:608389] +synonym: "SIX1 branchiootic syndrome" EXACT [MONDO:design_pattern] xref: MESH:C564248 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:608389 {source="MONDO:equivalentTo"} xref: Orphanet:52429 {source="OMIM:608389", source="MONDO:subClassOf"} @@ -234295,6 +236838,8 @@ is_a: MONDO:0007179 {source="DC-OMIM:608392", source="OMIM:608392"} ! autoimmune id: MONDO:0012029 name: microcephaly 6, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPJ gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive primary microcephaly caused by mutation in CENPJ" EXACT [MONDO:design_pattern] +synonym: "CENPJ autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern] synonym: "MCPH6" RELATED [MONDO:Lexical, OMIM:608393] synonym: "microcephaly 6, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:608393] synonym: "microcephaly 6, primary, autosomal recessive; MCPH6" RELATED [OMIM:608393] @@ -234331,6 +236876,8 @@ synonym: "BDPLT10" EXACT [DOID:0111046] synonym: "bleeding disorder, Platelet-type, 10" RELATED [OMIM:608404] synonym: "CD36 deficiency" EXACT [DOID:0111046] synonym: "Cd36 deficiency" RELATED [OMIM:608404] +synonym: "CD36 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern] +synonym: "inherited bleeding disorder, platelet-type caused by mutation in CD36" EXACT [MONDO:design_pattern] synonym: "Platelet glycoprotein 4 deficiency" RELATED [OMIM:608404] synonym: "PLATELET glycoprotein IV deficiency" RELATED [OMIM:608404] synonym: "platelet glycoprotein IV deficiency" EXACT [DOID:0111046] @@ -234386,7 +236933,7 @@ xref: Orphanet:75374 {source="OMIM:608415", source="MONDO:equivalentTo", source= xref: SCTID:711163009 {source="MONDO:kboom-pr-1.00/0.80/8.78", source="MONDO:equivalentTo", source="DOID:0050335"} xref: UMLS:C1842073 {source="NCBI:mim2gene_medline", source="OMIM:608415", source="DOID:0050335"} is_a: MONDO:0005283 {source="DOID:0050335"} ! retinal disease -is_a: MONDO:0020238 {source="Orphanet:75374"} ! genetic vitreous-retinal disease +is_a: MONDO:0020238 {source="Orphanet:75374"} ! inherited vitreous-retinal disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10004 {source="mim2gene_medgen"} ! RGS9 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30304 {source="mim2gene_medgen"} ! RGS9BP property_value: confidence "23.374999999999996" xsd:double @@ -234418,7 +236965,7 @@ id: MONDO:0012035 name: craniosynostosis-intracranial calcifications syndrome def: "Craniosynostosis-intracranial calcification is a form of syndromic craniosynostosis (see this term), characterized by pancraniosynostosis, head circumference below the mid-parental head circumference, mild facial dysmorphism (prominent supraorbital ridges, mild proptosis and maxillary hypoplasia) and calcification of the basal ganglia. The disease is associated with a favorable neurological outcome, normal intelligence and is inherited in an autosomal recessive manner." [Orphanet:52054] subset: ordo_malformation_syndrome {source="Orphanet:52054"} -synonym: "craniosynostosis, calcification of basal ganglia, and facial DYSMORPHISM" RELATED [OMIM:608432] +synonym: "craniosynostosis, calcification of basal ganglia, and facial dysmorphism" RELATED [OMIM:608432] synonym: "Longman-Tolmie syndrome" EXACT [Orphanet:52054] xref: ICD10:Q87.0 {source="Orphanet:52054", source="ORDO:52054/ntbt", source="ORDO:52054/attributed"} xref: MESH:C564241 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -234444,6 +236991,8 @@ is_a: MONDO:0007915 {source="DC-OMIM:608437", source="MONDOLEX:0012036"} ! syste id: MONDO:0012037 name: intellectual disability, autosomal recessive 3 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CC2D1A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CC2D1A" EXACT [MONDO:design_pattern] +synonym: "CC2D1A autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 3" RELATED [MONDO:Lexical, OMIM:608443] synonym: "mental retardation, autosomal recessive 3; MRT3" RELATED [OMIM:608443] synonym: "mental retardation, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:608443] @@ -234599,7 +237148,7 @@ xref: OMIM:608470 {source="Orphanet:98961", source="ORDO:98961/e", source="DOID: xref: Orphanet:98961 {source="OMIM:608470", source="DOID:0060453", source="MONDO:equivalentTo"} xref: SCTID:231930000 {source="MONDO:kboom-pr-0.76/0.38/0.66", source="DOID:0060453", source="MONDO:equivalentTo"} xref: UMLS:C0339278 {source="NCBI:mim2gene_medline", source="OMIM:608470", source="Orphanet:98961", source="ORDO:98961/e", source="DOID:0060453", source="MONDO:equivalentTo"} -is_a: MONDO:0000764 {source="DOID:0060453"} ! epithelial-stromal TGFB1 dystrophy +is_a: MONDO:0000764 {source="DOID:0060453"} ! epithelial-stromal TGFBI dystrophy is_a: MONDO:0020212 {source="Orphanet:98961"} ! superficial corneal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11771 {source="mim2gene_medgen"} ! TGFBI property_value: confidence "26.499999999999996" xsd:double @@ -234634,7 +237183,7 @@ synonym: "MYP5" EXACT [MONDO:Lexical, OMIM:608474] xref: MESH:C563922 {source="MONDO:equivalentTo"} xref: OMIM:608474 {source="MONDO:equivalentTo"} xref: UMLS:C1837972 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608474"} -is_a: MONDO:0001384 {source="DC-OMIM:608474", source="OMIM:608474"} ! myopia (disease) +is_a: MONDO:0001384 {source="DC-OMIM:608474", source="MESH:C563922", source="OMIM:608474"} ! myopia (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -234682,7 +237231,7 @@ xref: UMLS:C0041696 {source="DOID:1595", source="OMIM:608516"} xref: UMLS:C0085159 {source="OMIM:608516"} xref: UMLS:C1269683 {source="NCBI:mim2gene_medline", source="OMIM:608516"} is_a: MONDO:0002009 {source="DC-OMIM:608516", source="DOID:1595", source="MONDOLEX:0012048"} ! major depressive disorder -is_a: MONDO:0002050 {source="NCIT:C34532"} ! depressive disorder +is_a: MONDO:0002050 {source="DOID:1595/inferred", source="NCIT:C34532", source="linkedlifedata"} ! depressive disorder is_a: MONDO:0003847 ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20692 {source="mim2gene_medgen"} ! TPH2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3721 {source="mim2gene_medgen"} ! FKBP5 @@ -234760,7 +237309,7 @@ xref: SCTID:720941007 {source="MONDO:kboom-pr-1.00/0.80/9.57", source="MONDO:equ xref: UMLS:C1837896 {source="NCBI:mim2gene_medline"} xref: UMLS:C2931005 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:79327", source="MONDO:equivalentTo", source="OMIM:608540"} is_a: MONDO:0005500 {source="DC-OMIM:608540", source="MONDOLEX:0012052"} ! congenital disorder of glycosylation type I -is_a: MONDO:0015286 {source="MESH:C535749", source="MONDO:0012052/inferred", source="MONDO:Redundant", source="MONDOLEX:0012052/inferred", source="OMIM:608540", source="Orphanet:79327/inferred", source="linkedlifedata"} ! congenital disorder of glycosylation +is_a: MONDO:0015286 {source="MESH:C535749", source="MONDO:0012052/inferred", source="MONDO:Redundant", source="MONDOLEX:0012052/inferred", source="OMIM:608540", source="Orphanet:79327/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79327"} ! disorder of protein N-glycosylation is_a: MONDO:0018286 {source="Orphanet:79327"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature is_a: MONDO:0018287 {source="Orphanet:79327"} ! congenital disorder of glycosylation with epilepsy as a major feature @@ -234819,7 +237368,9 @@ synonym: "amaurosis congenita of Leber, type 9" RELATED [GARD:0009491] synonym: "LCA9" EXACT [DOID:0110005, MONDO:Lexical, OMIM:608553] synonym: "Leber congenital amaurosis 9" EXACT [MONDO:Lexical, OMIM:608553] synonym: "Leber congenital amaurosis 9; LCA9" RELATED [OMIM:608553] +synonym: "Leber congenital amaurosis caused by mutation in NMNAT1" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 9" EXACT [DOID:0110005, MONDORULE:1, OMIM:608553] +synonym: "NMNAT1 Leber congenital amaurosis" EXACT [MONDO:design_pattern] xref: DOID:0110005 {source="MONDO:equivalentTo"} xref: GARD:0009491 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110005", source="MONDO:relatedTo"} @@ -234876,11 +237427,13 @@ id: MONDO:0012060 name: autosomal recessive nonsyndromic deafness 35 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESRRB gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 35" EXACT [DOID:0110493] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ESRRB" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 35" EXACT [DOID:0110493, MONDORULE:2] synonym: "deafness, autosomal recessive 35" RELATED [MONDO:Lexical, OMIM:608565] synonym: "deafness, autosomal recessive 35; DFNB35" RELATED [OMIM:608565] synonym: "deafness, autosomal recessive type 35" EXACT [MONDORULE:2, OMIM:608565] synonym: "DFNB35" EXACT [DOID:0110493, MONDO:Lexical, OMIM:608565] +synonym: "ESRRB autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110493 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110493"} xref: MESH:C563908 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -234921,6 +237474,7 @@ property_value: confidence "1.1441176470588235" xsd:double id: MONDO:0012062 name: dilated cardiomyopathy 1O def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ABCC9 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ABCC9 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "cardiomyopathy, dilated, 1O" RELATED [MONDO:Lexical, OMIM:608569] synonym: "cardiomyopathy, dilated, 1O; CMD1O" RELATED [OMIM:608569] synonym: "cardiomyopathy, dilated, type 1O" EXACT [MONDORULE:4, OMIM:608569] @@ -234928,6 +237482,7 @@ synonym: "cardiomyopathy, dilated, with ventricular tachycardia" RELATED [OMIM:6 synonym: "CMD1O" EXACT [DOID:0110451, MONDO:Lexical, OMIM:608569] synonym: "dilated cardiomyopathy type 1O" EXACT [DOID:0110451, MONDORULE:4] synonym: "dilated cardiomyopathy with ventricular tachycardia" EXACT [DOID:0110451] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in ABCC9" EXACT [MONDO:design_pattern] xref: DOID:0110451 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110451", source="MONDO:subClassOf"} xref: MESH:C563906 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -234968,7 +237523,7 @@ synonym: "BURN-McKeown syndrome" RELATED [MONDO:Lexical, OMIM:608572] synonym: "Burn-McKeown syndrome" EXACT [Orphanet:1200] synonym: "BURN-McKeown syndrome; BMKS" RELATED [OMIM:608572] synonym: "choanal atresia deafness cardiac defects dysmorphism" RELATED [GARD:0010041] -synonym: "Oculootofacial dysplasia" EXACT [OMIM:608572] +synonym: "oculootofacial dysplasia" EXACT [OMIM:608572] xref: GARD:0010041 {source="MONDO:equivalentTo"} xref: ICD10:Q87.8 {source="ORDO:1200/attributed", source="ORDO:1200/ntbt", source="Orphanet:1200"} xref: MESH:C537411 {source="ORDO:1200/e", source="Orphanet:1200"} @@ -235013,6 +237568,8 @@ def: "Any inherited susceptibility to asthma in which the cause of the disease i synonym: "Asrt2" RELATED [OMIM:608584] synonym: "asthma-related traits, susceptibility to, 2" EXACT [OMIM:608584] synonym: "asthma-Related traits, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:608584] +synonym: "inherited susceptibility to asthma caused by mutation in NPSR1" EXACT [MONDO:design_pattern] +synonym: "NPSR1 inherited susceptibility to asthma" EXACT [MONDO:design_pattern] xref: OMIM:608584 {source="MONDO:equivalentTo"} xref: UMLS:C1837811 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:608584"} is_a: MONDO:0010940 {source="MONDO:cjm", source="MONDOLEX:0012067"} ! inherited susceptibility to asthma @@ -235040,7 +237597,7 @@ xref: MESH:C563900 {source="MONDO:equivalentTo"} xref: OMIM:608586 {source="MONDO:equivalentTo"} xref: Orphanet:2335 {source="OMIM:608586"} xref: UMLS:C1837809 {source="NCBI:mim2gene_medline", source="OMIM:608586", source="MONDO:equivalentTo"} -is_a: MONDO:0015486 {source="DC-OMIM:608586", source="OMIM:608586"} ! keratoconus (disease) +is_a: MONDO:0015486 {source="DC-OMIM:608586", source="MESH:C563900", source="OMIM:608586"} ! keratoconus (disease) [Term] id: MONDO:0012070 @@ -235198,7 +237755,9 @@ synonym: "ALS8" EXACT [DOID:0050752, OMIM:608627] synonym: "ALS8" RELATED [MONDO:Lexical, OMIM:608627] synonym: "amyotrophic lateral sclerosis 8" EXACT [DOID:0050752, MONDO:Lexical, OMIM:608627] synonym: "amyotrophic lateral sclerosis 8; ALS8" RELATED [OMIM:608627] +synonym: "amyotrophic lateral sclerosis caused by mutation in VAPB" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 8" EXACT [MONDORULE:1, OMIM:608627] +synonym: "VAPB amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0050752 {source="MONDO:equivalentTo"} xref: GARD:0010499 {source="MONDO:equivalentTo"} xref: MESH:C563895 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -235216,10 +237775,12 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10499/amyotro id: MONDO:0012078 name: Joubert syndrome 3 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the AHI1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AHI1 Joubert syndrome" EXACT [MONDO:design_pattern] synonym: "JBTS3" EXACT [DOID:0110998] synonym: "JBTS3" RELATED [MONDO:Lexical, OMIM:608629] synonym: "Joubert syndrome 3" EXACT [MONDO:Lexical, OMIM:608629] synonym: "Joubert syndrome 3; JBTS3" RELATED [OMIM:608629] +synonym: "Joubert syndrome caused by mutation in AHI1" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 3" EXACT [DOID:0110998, MONDORULE:1, OMIM:608629] xref: DOID:0110998 {source="MONDO:equivalentTo"} xref: MESH:C536295 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -235228,7 +237789,7 @@ xref: OMIM:608629 {source="DOID:0110998", source="MONDO:equivalentTo"} xref: Orphanet:220493 {source="OMIM:608629", source="MONDO:subClassOf"} xref: UMLS:C1837713 {source="NCBI:mim2gene_medline", source="OMIM:608629", source="MONDO:equivalentTo"} is_a: MONDO:0016364 {source="Orphanet:Inferred"} ! Joubert syndrome with ocular defect -is_a: MONDO:0018772 {source="DC-OMIM:608629", source="DOID:0110998", source="MONDO:Entailed", source="OMIM:608629"} ! Joubert syndrome +is_a: MONDO:0018772 {source="DC-OMIM:608629", source="DOID:0110998", source="MONDO:Entailed", source="NCIT:C148259", source="OMIM:608629"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21575 ! AHI1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21575 {source="mim2gene_medgen"} ! AHI1 @@ -235252,6 +237813,8 @@ name: neuronopathy, distal hereditary motor, type 2B def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "HMN 2B" RELATED [OMIM:608634] synonym: "HMN2B" RELATED [MONDO:Lexical, OMIM:608634] +synonym: "HSPB1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern] +synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB1" EXACT [MONDO:design_pattern] synonym: "neuronopathy, distal hereditary motor, type IIB" RELATED [MONDO:Lexical, OMIM:608634] synonym: "neuronopathy, distal hereditary motor, type IIB; HMN2B" RELATED [OMIM:608634] synonym: "neuropathy, distal hereditary motor, type 2B" RELATED [OMIM:608634] @@ -235316,11 +237879,13 @@ id: MONDO:0012083 name: autosomal dominant nonsyndromic deafness 28 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GRHL2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 28" EXACT [DOID:0110557] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GRHL2" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 28" EXACT [DOID:0110557, MONDORULE:2] synonym: "deafness, autosomal dominant 28" RELATED [MONDO:Lexical, OMIM:608641] synonym: "deafness, autosomal dominant 28; DFNA28" RELATED [OMIM:608641] synonym: "deafness, autosomal dominant type 28" EXACT [MONDORULE:2, OMIM:608641] synonym: "DFNA28" EXACT [DOID:0110557, MONDO:Lexical, OMIM:608641] +synonym: "GRHL2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110557 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110557"} xref: MESH:C563890 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -235372,7 +237937,9 @@ synonym: "ciliary dyskinesia, primary, 3" RELATED [MONDO:Lexical, OMIM:608644] synonym: "ciliary dyskinesia, primary, 3, with or without situs inversus" RELATED [OMIM:608644] synonym: "ciliary dyskinesia, primary, 3; CILD3" RELATED [OMIM:608644] synonym: "ciliary dyskinesia, primary, type 3" EXACT [MONDORULE:1, OMIM:608644] +synonym: "DNAH5 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 3 with or without situs inversus" EXACT [DOID:0110599] +synonym: "primary ciliary dyskinesia caused by mutation in DNAH5" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 3" EXACT [DOID:0110599, MONDORULE:1] xref: DOID:0110599 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110599"} @@ -235426,7 +237993,9 @@ synonym: "ciliary dyskinesia, primary, 5" RELATED [MONDO:Lexical, OMIM:608647] synonym: "ciliary dyskinesia, primary, 5, without situs inversus" RELATED [OMIM:608647] synonym: "ciliary dyskinesia, primary, 5; CILD5" RELATED [OMIM:608647] synonym: "ciliary dyskinesia, primary, type 5" EXACT [MONDORULE:1, OMIM:608647] +synonym: "HYDIN primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 5 without situs inversus" EXACT [DOID:0110617] +synonym: "primary ciliary dyskinesia caused by mutation in HYDIN" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 5" EXACT [DOID:0110617, MONDORULE:1] xref: DOID:0110617 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110617"} @@ -235461,7 +238030,7 @@ xref: SCTID:12381000132107 {source="MONDO:equivalentTo"} xref: UMLS:C1504431 {source="MEDGEN:kboom-pr96-c96", source="NCIT:C62590", source="MONDO:equivalentTo"} xref: UMLS:C1837610 {source="NCBI:mim2gene_medline", source="OMIM:608649", source="ORDO:88621/e", source="Orphanet:88621", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} is_a: MONDO:0017274 {source="Orphanet:88621"} ! autosomal ichthyosis syndrome with other associated signs -is_a: MONDO:0043905 {source="NCIT:C62590"} ! pneumonitis +is_a: MONDO:0043905 {source="NCIT:C62590", source="linkedlifedata"} ! pneumonitis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10998 {source="mim2gene_medgen"} ! SLC27A4 property_value: confidence "4.277777777777778" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9886/ichthyosis-prematurity-syndrome xsd:anyURI {source="GARD:0009886"} @@ -235504,6 +238073,7 @@ id: MONDO:0012092 name: hereditary sensory and autonomic neuropathy type 5 def: "Hereditary sensory and autonomic neuropathy, type 5 (HSAN5) is characterized by loss of pain perception and impaired temperature sensitivity, in the absence of any other major neurological anomalies." [Orphanet:64752] subset: ordo_disease {source="Orphanet:64752"} +synonym: "autosomal recessive hereditary sensory and autonomic neuropathy caused by mutation in NGF" EXACT [MONDO:design_pattern] synonym: "congenital insensitivity to pain and thermal analgesia" EXACT [Orphanet:64752] synonym: "hereditary sensory and autonomic neuropathy type V" EXACT [DOID:0070145, Orphanet:64752] synonym: "HSAN 5" RELATED [OMIM:608654] @@ -235513,6 +238083,7 @@ synonym: "insensitivity to pain, congenital" RELATED [OMIM:608654] synonym: "neuropathy, hereditary sensory and autonomic, type 5" RELATED [OMIM:608654] synonym: "neuropathy, hereditary sensory and autonomic, type V" RELATED [MONDO:Lexical, OMIM:608654] synonym: "neuropathy, hereditary sensory and autonomic, type V; HSAN5" RELATED [OMIM:608654] +synonym: "NGF autosomal recessive hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern] xref: DOID:0070145 {source="MONDO:equivalentTo"} xref: GARD:0012328 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: GARD:12328 {source="DOID:0070145"} @@ -235588,6 +238159,7 @@ def: "Autosomal dominant Charcot-Marie-Tooth disease type 2L (CMT2L) is a form o subset: ordo_disease {source="Orphanet:99945"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2L" EXACT [DOID:0110174] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2L" EXACT [DOID:0110174] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in HSPB8" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2L" RELATED [GARD:0012432] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2L" RELATED [OMIM:608673] synonym: "Charcot-Marie-Tooth disease, axonal, type 2L" RELATED [MONDO:Lexical, OMIM:608673] @@ -235595,6 +238167,7 @@ synonym: "Charcot-Marie-Tooth disease, axonal, type 2L; CMT2L" RELATED [OMIM:608 synonym: "Charcot-Marie-Tooth neuropathy axonal type 2L" EXACT [DOID:0110174] synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2L" RELATED [OMIM:608673] synonym: "CMT2L" EXACT [DOID:0110174, MONDO:Lexical, OMIM:608673, Orphanet:99945] +synonym: "HSPB8 Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110174 {source="MONDO:equivalentTo"} xref: GARD:0012432 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="DOID:0110174", source="Orphanet:99945", source="ORDO:99945/attributed", source="ORDO:99945/ntbt"} @@ -235604,7 +238177,7 @@ xref: SCTID:719513008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C1837552 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:608673", source="MONDO:equivalentTo"} xref: UMLS:C3888087 {source="Orphanet:99945"} xref: UMLS:C4304673 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:608673", source="Orphanet:99945/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110174/inferred", source="MONDO:Redundant", source="OMIM:608673", source="Orphanet:99945/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110174", source="Orphanet:99945"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30171 ! HSPB8 @@ -235822,6 +238395,8 @@ property_value: confidence "3.2857142857142856" xsd:double id: MONDO:0012106 name: microcephaly 5, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the ASPM gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ASPM autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern] +synonym: "autosomal recessive primary microcephaly caused by mutation in ASPM" EXACT [MONDO:design_pattern] synonym: "MCPH5" RELATED [MONDO:Lexical, OMIM:608716] synonym: "microcephaly 5, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:608716] synonym: "microcephaly 5, primary, autosomal recessive; MCPH5" RELATED [OMIM:608716] @@ -235911,14 +238486,16 @@ synonym: "cardiomyopathy, familial hypertrophic, 8; CMH8" RELATED [OMIM:608751] synonym: "cardiomyopathy, familial hypertrophic, type 8" EXACT [MONDORULE:1, OMIM:608751] synonym: "cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 1" RELATED [OMIM:608751] synonym: "CMH8" RELATED [MONDO:Lexical, OMIM:608751] +synonym: "hypertrophic cardiomyopathy caused by mutation in MYL3" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 8" EXACT [DOID:0110314, MONDORULE:1] +synonym: "MYL3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110314 {source="MONDO:equivalentTo"} xref: MESH:C563866 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:608751 {source="DOID:0110314", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:608751"} xref: UMLS:C1837471 {source="NCBI:mim2gene_medline", source="OMIM:608751", source="MONDO:equivalentTo"} is_a: MONDO:0005045 {source="DC-OMIM:608751", source="DOID:0110314", source="MESH:C563866/inferred", source="MONDO:Redundant", source="OMIM:608751"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDOLEX:0012111", source="OMIM", source="OMIM:608751"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="MESH:C563866", source="MONDOLEX:0012111", source="OMIM", source="OMIM:608751"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7584 ! MYL3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7584 {source="mim2gene_medgen"} ! MYL3 @@ -235935,7 +238512,9 @@ synonym: "cardiomyopathy, familial hypertrophic, 10; CMH10" RELATED [OMIM:608758 synonym: "cardiomyopathy, familial hypertrophic, type 10" EXACT [MONDORULE:2, OMIM:608758] synonym: "cardiomyopathy, hypertrophic, mid-left ventricular chamber type, 2" RELATED [OMIM:608758] synonym: "CMH10" EXACT [DOID:0110316, MONDO:Lexical, OMIM:608758] +synonym: "hypertrophic cardiomyopathy caused by mutation in MYL2" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 10" EXACT [DOID:0110316, MONDORULE:2] +synonym: "MYL2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "myosin light chain 2" RELATED [Orphanet:123631] xref: DOID:0110316 {source="MONDO:equivalentTo"} xref: MESH:C563865 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -235944,7 +238523,7 @@ xref: Orphanet:123631 {source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:608758"} xref: UMLS:C1834460 {source="NCBI:mim2gene_medline", source="OMIM:608758", source="MONDO:equivalentTo"} is_a: MONDO:0005045 {source="DC-OMIM:608758", source="DOID:0110316", source="MESH:C563865/inferred", source="MONDO:Redundant", source="OMIM:608758"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDOLEX:0012112", source="OMIM", source="OMIM:608758"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="MESH:C563865", source="MONDOLEX:0012112", source="OMIM", source="OMIM:608758"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7583 ! MYL2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7583 {source="mim2gene_medgen"} ! MYL2 @@ -236034,7 +238613,7 @@ xref: SCTID:720978005 {source="MONDO:kboom-pr-1.00/0.80/8.79", source="MONDO:equ xref: UMLS:C1837438 {source="NCBI:mim2gene_medline"} xref: UMLS:C2931006 {source="OMIM:608776", source="MEDGEN:kboom-pr98-c99", source="Orphanet:79328", source="MONDO:equivalentTo"} is_a: MONDO:0005500 {source="DC-OMIM:608776", source="MONDOLEX:0012117"} ! congenital disorder of glycosylation type I -is_a: MONDO:0015286 {source="MESH:C535750", source="MONDO:0012117/inferred", source="MONDO:Redundant", source="MONDOLEX:0012117/inferred", source="OMIM:608776", source="Orphanet:79328/inferred", source="linkedlifedata"} ! congenital disorder of glycosylation +is_a: MONDO:0015286 {source="MESH:C535750", source="MONDO:0012117/inferred", source="MONDO:Redundant", source="MONDOLEX:0012117/inferred", source="OMIM:608776", source="Orphanet:79328/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017740 {source="Orphanet:79328"} ! disorder of protein N-glycosylation is_a: MONDO:0018287 {source="Orphanet:79328"} ! congenital disorder of glycosylation with epilepsy as a major feature is_a: MONDO:0018288 {source="Orphanet:79328"} ! congenital disorder of glycosylation with hepatic involvement @@ -236048,7 +238627,7 @@ def: "COG7-CDG is a congenital disorder of glycosylation characterised by dysmor subset: ordo_disease {source="Orphanet:79333"} synonym: "carbohydrate deficient glycoprotein syndrome type IIe" EXACT [Orphanet:79333] synonym: "CDG 2E" RELATED [GARD:0009842] -synonym: "CDG Iie" RELATED [OMIM:608779] +synonym: "CDG IIe" RELATED [OMIM:608779] synonym: "CDG syndrome type IIe" EXACT [Orphanet:79333] synonym: "CDG-IIe" EXACT [Orphanet:79333] synonym: "CDG2E" EXACT [MONDO:Lexical, OMIM:608779, Orphanet:79333] @@ -236119,7 +238698,7 @@ xref: OMIM:608787 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:608787"} xref: UMLS:C1837422 {source="NCBI:mim2gene_medline", source="OMIM:608787", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0005349 {source="DC-OMIM:608787", source="OMIM:608787"} ! otosclerosis (disease) +is_a: MONDO:0005349 {source="DC-OMIM:608787", source="MESH:C563858", source="OMIM:608787"} ! otosclerosis (disease) [Term] id: MONDO:0012122 @@ -236131,7 +238710,7 @@ xref: MESH:C536993 {source="MONDO:equivalentTo"} xref: OMIM:608796 {source="MONDO:equivalentTo"} xref: Orphanet:2573 {source="OMIM:608796", source="MONDO:subClassOf"} xref: UMLS:C1837418 {source="NCBI:mim2gene_medline", source="OMIM:608796", source="MONDO:equivalentTo"} -is_a: MONDO:0016820 {source="DC-OMIM:608796", source="OMIM:608796"} ! Moyamoya disease +is_a: MONDO:0016820 {source="DC-OMIM:608796", source="MESH:C536993", source="OMIM:608796"} ! Moyamoya disease property_value: confidence "1.0943562610229276" xsd:double [Term] @@ -236147,11 +238726,13 @@ synonym: "CDG syndrome type Ie" EXACT [Orphanet:79322] synonym: "CDG-Ie" EXACT [Orphanet:79322] synonym: "CDG1E" EXACT [MONDO:Lexical, OMIM:608799, Orphanet:79322] synonym: "CDGIe" EXACT [NCIT:C126871] +synonym: "congenital disorder of glycosylation caused by mutation in DPM1" EXACT [MONDO:design_pattern] synonym: "congenital disorder of glycosylation type 1e" EXACT [Orphanet:79322] synonym: "congenital disorder of glycosylation type Ie" EXACT [Orphanet:79322] synonym: "congenital disorder of glycosylation, type Ie" RELATED [MONDO:Lexical, OMIM:608799] synonym: "congenital disorder of glycosylation, type Ie; CDG1E" RELATED [OMIM:608799] synonym: "Dol-P-mannosyltransferase deficiency" EXACT [Orphanet:79322] +synonym: "DPM1 congenital disorder of glycosylation" EXACT [MONDO:design_pattern] synonym: "DPM1-CDG" RELATED [Orphanet:79322] synonym: "DPM1-CDG (CDG-Ie)" RELATED [GARD:0009831] xref: GARD:0009831 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -236162,7 +238743,7 @@ xref: OMIM:608799 {source="ORDO:79322/e", source="Orphanet:79322", source="MONDO xref: Orphanet:79322 {source="OMIM:608799", source="MONDO:equivalentTo"} xref: UMLS:C1837396 {source="NCBI:mim2gene_medline", source="Orphanet:79322", source="OMIM:608799", source="NCIT:C126871"} is_a: MONDO:0005500 {source="DC-OMIM:608799", source="MONDOLEX:0012123"} ! congenital disorder of glycosylation type I -is_a: MONDO:0015286 {source="MESH:C535743", source="MONDO:0012123/inferred", source="MONDO:Redundant", source="MONDOLEX:0012123/inferred", source="OMIM:608799", source="Orphanet:79322/inferred"} ! congenital disorder of glycosylation +is_a: MONDO:0015286 {source="MESH:C535743", source="MONDO:0012123/inferred", source="MONDO:Redundant", source="MONDOLEX:0012123/inferred", source="NCIT:C126871", source="OMIM:608799", source="Orphanet:79322/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017749 {source="Orphanet:79322"} ! disorder of multiple glycosylation is_a: MONDO:0018287 {source="Orphanet:79322"} ! congenital disorder of glycosylation with epilepsy as a major feature intersection_of: MONDO:0015286 ! congenital disorder of glycosylation @@ -236195,8 +238776,10 @@ id: MONDO:0012125 name: hypomyelinating leukodystrophy 2 def: "Any leukodystrophy in which the cause of the disease is a mutation in the GJC2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:280282"} +synonym: "GJC2 leukodystrophy" EXACT [MONDO:design_pattern] synonym: "HLD2" EXACT [DOID:0060787, MONDO:Lexical, OMIM:608804] synonym: "hypomyelinating leukodystrophy type 2" EXACT [DOID:0060787, MONDORULE:1] +synonym: "leukodystrophy caused by mutation in GJC2" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 2" RELATED [MONDO:Lexical, OMIM:608804] synonym: "leukodystrophy, hypomyelinating, 2; HLD2" RELATED [OMIM:608804] synonym: "leukodystrophy, hypomyelinating, type 2" EXACT [MONDORULE:1, OMIM:608804] @@ -236212,7 +238795,7 @@ xref: Orphanet:280270 {source="OMIM:608804", source="MONDO:subClassOf"} xref: Orphanet:280282 {source="OMIM:608804", source="MONDO:equivalentTo", source="DOID:0060787"} xref: UMLS:C1837355 {source="OMIM:608804", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="Orphanet:280282", source="MONDO:equivalentTo"} is_a: MONDO:0017226 {source="Orphanet:280282"} ! Pelizaeus-Merzbacher-like disease -is_a: MONDO:0019046 {source="MONDO:Redundant", source="OMIM:608804", source="Orphanet:280282/inferred"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0060787", source="DOID:0060787/inferred", source="MONDO:Redundant", source="OMIM:608804", source="Orphanet:280282/inferred"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17494 ! GJC2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17494 {source="mim2gene_medgen"} ! GJC2 @@ -236263,11 +238846,13 @@ id: MONDO:0012127 name: autosomal recessive limb-girdle muscular dystrophy type 2J def: "Autosomal recessive limb-girdle muscular dystrophy type 2J (LGMD2J) is a form of limb-girdle muscular dystrophy that usually has a childhood onset (but can range from the first to third decade of life) of severe progressive proximal weakness, eventually involving the distal muscles. Some patients may remain ambulatory but most are wheelchair dependant 20 years after onset." [Orphanet:140922] subset: ordo_disease {source="Orphanet:140922"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TTN" EXACT [MONDO:design_pattern] synonym: "LGMD2J" EXACT [DOID:0110283, Orphanet:140922] synonym: "LGMD2J" RELATED [MONDO:Lexical, OMIM:608807] synonym: "limb-girdle muscular dystrophy type 2J" RELATED [GARD:0012534] synonym: "muscular dystrophy, limb-girdle, type 2J" EXACT [DOID:0110283, MONDO:Lexical, OMIM:608807] synonym: "muscular dystrophy, limb-girdle, type 2J; LGMD2J" RELATED [OMIM:608807] +synonym: "TTN autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110283 {source="MONDO:equivalentTo"} xref: GARD:0012534 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G71.0 {source="MONDO:subClassOf", source="ORDO:140922/attributed", source="ORDO:140922/ntbt", source="Orphanet:140922", source="DOID:0110283"} @@ -236287,8 +238872,10 @@ id: MONDO:0012128 name: dextro-looped transposition of the great arteries 1 def: "Any dextro-looped transposition of the great arteries in which the cause of the disease is a mutation in the MED13L gene." [MONDO:patterns/disease_series_by_gene] synonym: "D-TGA" RELATED [OMIM:608808] +synonym: "dextro-looped transposition of the great arteries caused by mutation in MED13L" EXACT [MONDO:design_pattern] synonym: "dextro-looped transposition of the great arteries type 1" EXACT [DOID:0060771, MONDORULE:1] synonym: "DTGA1" EXACT [DOID:0060771, MONDO:Lexical, OMIM:608808] +synonym: "MED13L dextro-looped transposition of the great arteries" EXACT [MONDO:design_pattern] synonym: "transposition of the great arteries, dextro-looped 1" RELATED [MONDO:Lexical, OMIM:608808] synonym: "transposition of the great arteries, dextro-looped 1; DTGA1" RELATED [OMIM:608808] synonym: "transposition of the great arteries, dextro-looped type 1" EXACT [MONDORULE:1, OMIM:608808] @@ -236327,6 +238914,8 @@ subset: ordo_disease {source="Orphanet:399058"} synonym: "Alpha-B crystallin-related late-onset distal myopathy" RELATED [Orphanet:399058] synonym: "Alpha-B crystallinopathy" RELATED [OMIM:608810] synonym: "alpha-b crystallinopathy" EXACT [DOID:0080093] +synonym: "autosomal dominant distal myopathy caused by mutation in CRYAB" EXACT [MONDO:design_pattern] +synonym: "CRYAB autosomal dominant distal myopathy" EXACT [MONDO:design_pattern] synonym: "late-onset distal crystallinopathy" EXACT [Orphanet:399058] synonym: "MFM2" RELATED [MONDO:Lexical, OMIM:608810] synonym: "myofibrillar myopathy type 2" EXACT [DOID:0080093, MONDORULE:1] @@ -236369,11 +238958,13 @@ id: MONDO:0012132 name: colorectal cancer, susceptibility to, 1 def: "Any colorectal cancer in which the cause of the disease is a mutation in the GALNT12 gene." [MONDO:patterns/disease_series_by_gene] synonym: "colorectal adenoma and cancer, susceptibility to" RELATED [OMIM:608812] +synonym: "colorectal cancer caused by mutation in GALNT12" EXACT [MONDO:design_pattern] synonym: "colorectal cancer, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:608812] synonym: "colorectal cancer, susceptibility to, 1; CRCS1" RELATED [OMIM:608812] synonym: "colorectal cancer, susceptibility to, on chromosome 9" RELATED [OMIM:608812] synonym: "colorectal cancer, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:608812] synonym: "CRCS1" RELATED [MONDO:Lexical, OMIM:608812] +synonym: "GALNT12 colorectal cancer" EXACT [MONDO:design_pattern] synonym: "susceptibility to colorectal cancer 1" RELATED [OMIM:608812] xref: OMIM:608812 {source="MONDO:equivalentTo"} xref: UMLS:C1837315 {source="NCBI:mim2gene_medline", source="OMIM:608812"} @@ -236512,10 +239103,12 @@ is_obsolete: true id: MONDO:0012141 name: orofacial cleft 6, susceptibility to def: "Any orofacial cleft in which the cause of the disease is a mutation in the IRF6 gene." [MONDO:patterns/disease_series_by_gene] -synonym: "cleft 51P with or without cleft palate, nonsyndromic, 6" RELATED [OMIM:608864] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 6" RELATED [OMIM:608864] +synonym: "IRF6 orofacial cleft" EXACT [MONDO:design_pattern] synonym: "OFC6" RELATED [MONDO:Lexical, OMIM:608864] synonym: "orofacial cleft 6, susceptibility to" EXACT [MONDO:Lexical, OMIM:608864] synonym: "orofacial cleft 6, susceptibility to; OFC6" RELATED [OMIM:608864] +synonym: "orofacial cleft caused by mutation in IRF6" EXACT [MONDO:design_pattern] synonym: "susceptibility to orofacial cleft 6" RELATED [OMIM:608864] xref: OMIM:608864 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:608864", source="MONDO:subClassOf"} @@ -236525,16 +239118,19 @@ is_a: MONDO:0016044 {source="ORDO:199306/btnt"} ! cleft lip/palate intersection_of: MONDO:0000358 ! orofacial cleft intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6121 ! IRF6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6121 {source="mim2gene_medgen"} ! IRF6 +relationship: has_modifier MONDO:0021128 ! has an isolated presentation property_value: confidence "1.7876687750502525" xsd:double [Term] id: MONDO:0012142 name: orofacial cleft 5 def: "Any orofacial cleft in which the cause of the disease is a mutation in the MSX1 gene." [MONDO:patterns/disease_series_by_gene] -synonym: "cleft 51P with or without cleft palate, nonsyndromic, 5" RELATED [OMIM:608874] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 5" RELATED [OMIM:608874] +synonym: "MSX1 orofacial cleft" EXACT [MONDO:design_pattern] synonym: "OFC5" RELATED [MONDO:Lexical, OMIM:608874] synonym: "orofacial cleft 5" EXACT [MONDO:Lexical, OMIM:608874] synonym: "orofacial cleft 5; OFC5" RELATED [OMIM:608874] +synonym: "orofacial cleft caused by mutation in MSX1" EXACT [MONDO:design_pattern] synonym: "orofacial cleft type 5" EXACT [MONDORULE:1, OMIM:608874] xref: MESH:C563843 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:608874 {source="MONDO:equivalentTo"} @@ -236547,6 +239143,7 @@ is_a: MONDO:0016044 {source="ORDO:199306/btnt"} ! cleft lip/palate intersection_of: MONDO:0000358 ! orofacial cleft intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7391 ! MSX1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7391 {source="mim2gene_medgen"} ! MSX1 +relationship: has_modifier MONDO:0021128 ! has an isolated presentation property_value: confidence "1.7876687750502525" xsd:double [Term] @@ -236576,6 +239173,8 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0012144 name: Waardenburg syndrome type 2D def: "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SNAI2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "SNAI2 Waardenburg syndrome type 2" EXACT [MONDO:design_pattern] +synonym: "Waardenburg syndrome type 2 caused by mutation in SNAI2" EXACT [MONDO:design_pattern] synonym: "Waardenburg syndrome type IID" EXACT [DOID:0110952] synonym: "Waardenburg syndrome, type 2D" RELATED [MONDO:Lexical, OMIM:608890] synonym: "Waardenburg syndrome, type 2D; WS2D" RELATED [OMIM:608890] @@ -236586,7 +239185,7 @@ xref: OMIM:608890 {source="DOID:0110952", source="MONDO:equivalentTo"} xref: Orphanet:3440 {source="OMIM:608890", source="MONDO:subClassOf"} xref: Orphanet:895 {source="OMIM:608890", source="MONDO:subClassOf"} xref: UMLS:C1837203 {source="OMIM:608890", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018094 {source="MONDO:Redundant", source="OMIM:608890"} ! Waardenburg syndrome +is_a: MONDO:0018094 {source="DOID:0110952", source="MONDO:Redundant", source="OMIM:608890"} ! Waardenburg syndrome is_a: MONDO:0019517 {source="MONDO:Entailed", source="MONDO:cjm", source="MONDOLEX:0012144"} ! Waardenburg syndrome type 2 intersection_of: MONDO:0019517 ! Waardenburg syndrome type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11094 ! SNAI2 @@ -236597,7 +239196,9 @@ property_value: confidence "0.058201058201058364" xsd:double id: MONDO:0012145 name: macular degeneration, age-related, 3 def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the FBLN5 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "age-related macular degeneration caused by mutation in FBLN5" EXACT [MONDO:design_pattern] synonym: "ARMD3" RELATED [MONDO:Lexical, OMIM:608895] +synonym: "FBLN5 age-related macular degeneration" EXACT [MONDO:design_pattern] synonym: "HNARMD" RELATED [OMIM:608895] synonym: "macular degeneration, age-related, 3" EXACT [MONDO:Lexical, OMIM:608895] synonym: "macular DEGENERATION, AGE-RELATED, 3; ARMD3" RELATED [OMIM:608895] @@ -236621,6 +239222,7 @@ def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the d subset: gard_rare {source="GARD:0009928"} synonym: "familial hemophagocytic lymphohistiocytosis type 3" EXACT [DOID:0110923, MONDORULE:1] synonym: "FHL3" EXACT [DOID:0110923, MONDO:Lexical, OMIM:608898] +synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in UNC13D" EXACT [MONDO:design_pattern] synonym: "hemophagocytic lymphohistiocytosis, familial, 3" RELATED [MONDO:Lexical, OMIM:608898] synonym: "hemophagocytic lymphohistiocytosis, familial, 3; FHL3" RELATED [OMIM:608898] synonym: "hemophagocytic lymphohistiocytosis, familial, type 3" EXACT [MONDORULE:1, OMIM:608898] @@ -236628,6 +239230,7 @@ synonym: "HLH3" EXACT [DOID:0110923] synonym: "Hlh3" RELATED [OMIM:608898] synonym: "HPLH3" EXACT [DOID:0110923] synonym: "Hplh3" RELATED [OMIM:608898] +synonym: "UNC13D genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern] xref: DOID:0110923 {source="MONDO:equivalentTo"} xref: GARD:0009928 {source="MONDO:equivalentTo"} xref: MESH:C537251 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -236645,9 +239248,11 @@ id: MONDO:0012147 name: coronary heart disease, susceptibility to, 5 def: "Any coronary artery disease in which the cause of the disease is a mutation in the KALRN gene." [MONDO:patterns/disease_series_by_gene] synonym: "Chds5" RELATED [OMIM:608901] +synonym: "coronary artery disease caused by mutation in KALRN" EXACT [MONDO:design_pattern] synonym: "coronary artery disease, early-onset" RELATED [OMIM:608901] synonym: "coronary heart disease, susceptibility to, 5" EXACT [OMIM:608901] synonym: "coronary heart disease, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:608901] +synonym: "KALRN coronary artery disease" EXACT [MONDO:design_pattern] synonym: "susceptibility to coronary heart disease 5" RELATED [OMIM:608901] xref: OMIM:608901 {source="MONDO:equivalentTo"} xref: UMLS:C1837173 {source="NCBI:mim2gene_medline", source="OMIM:608901"} @@ -236794,7 +239399,7 @@ xref: SCTID:204514002 {source="DOID:9574"} xref: SCTID:53458004 {source="DOID:9574"} xref: UMLS:C0008297 {source="ORDO:137914/e", source="DOID:9574", source="Orphanet:137914"} xref: UMLS:C0220723 {source="NCBI:mim2gene_medline", source="OMIM:608911", source="DOID:9574"} -is_a: MONDO:0002232 {source="DOID:9574"} ! nasal cavity disease +is_a: MONDO:0002232 {source="DOID:9574", source="linkedlifedata/inferred"} ! nasal cavity disease is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease is_a: MONDO:0015503 {source="Orphanet:137914"} ! nose and cavum anomaly property_value: confidence "0.2608695652173916" xsd:double @@ -236815,7 +239420,7 @@ xref: OMIM:608930 {source="DOID:0110662", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:608930", source="MONDO:subClassOf"} xref: UMLS:C1837122 {source="NCBI:mim2gene_medline", source="OMIM:608930", source="MONDO:equivalentTo"} xref: UMLS:C4225405 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:608930"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110662", source="MONDO:Redundant", source="OMIM:608930"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="MONDO:Redundant", source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of GO:0098975 ! postsynapse of neuromuscular junction relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1955 {source="mim2gene_medgen"} ! CHRNA1 @@ -236848,7 +239453,7 @@ xref: Orphanet:590 {source="OMIM:608931", source="MONDO:subClassOf"} xref: UMLS:C1837091 {source="NCBI:mim2gene_medline", source="OMIM:608931"} xref: UMLS:C1837092 {source="OMIM:608931"} xref: UMLS:C1837094 {source="OMIM:608931"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:608931"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110679", source="MONDO:Redundant", source="OMIM:608931"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="MONDO:Redundant", source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1966 ! CHRNE @@ -236867,7 +239472,7 @@ xref: MESH:C563827 {source="MONDO:equivalentTo"} xref: OMIM:608932 {source="MONDO:equivalentTo"} xref: Orphanet:2335 {source="OMIM:608932"} xref: UMLS:C1837090 {source="NCBI:mim2gene_medline", source="OMIM:608932", source="MONDO:equivalentTo"} -is_a: MONDO:0015486 {source="DC-OMIM:608932", source="OMIM:608932"} ! keratoconus (disease) +is_a: MONDO:0015486 {source="DC-OMIM:608932", source="MESH:C563827", source="OMIM:608932"} ! keratoconus (disease) [Term] id: MONDO:0012159 @@ -236919,11 +239524,13 @@ id: MONDO:0012162 name: patterned macular dystrophy 2 def: "Any patterned macular dystrophy in which the cause of the disease is a mutation in the CTNNA1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "butterfly-shaped pigmentary maculary dystrophy 2" EXACT [DOID:0060864] +synonym: "CTNNA1 patterned macular dystrophy" EXACT [MONDO:design_pattern] synonym: "macular dystrophy, butterfly-Shaped pigmentary, 2" RELATED [OMIM:608970] synonym: "macular dystrophy, patterned, 2" RELATED [OMIM:608970] synonym: "macular dystrophy, patterned, 2; MDPT2" RELATED [OMIM:608970] synonym: "macular dystrophy, patterned, type 2" EXACT [MONDORULE:1, OMIM:608970] synonym: "MDPT2" EXACT [DOID:0060864] +synonym: "patterned macular dystrophy caused by mutation in CTNNA1" EXACT [MONDO:design_pattern] synonym: "patterned macular dystrophy type 2" EXACT [DOID:0060864, MONDORULE:1] xref: DOID:0060864 {source="MONDO:equivalentTo"} xref: OMIM:608970 {source="MONDO:equivalentTo", source="DOID:0060864"} @@ -236952,7 +239559,7 @@ xref: Orphanet:169154 {source="DOID:0090014", source="MONDO:directSiblingOf", so xref: Orphanet:169157 {source="MONDO:directSiblingOf", source="OMIM:608971", source="MONDO:superClassOf"} xref: Orphanet:169160 {source="MONDO:relatedTo", source="OMIM:608971", source="MONDO:superClassOf"} xref: UMLS:C1837028 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:608971", source="MONDO:equivalentTo"} -is_a: MONDO:0015974 {source="DC-OMIM:608971", source="DOID:0090014", source="MONDOLEX:0012163"} ! severe combined immunodeficiency (disease) +is_a: MONDO:0015974 {source="DC-OMIM:608971", source="DOID:0090014", source="MESH:C563822", source="MONDOLEX:0012163"} ! severe combined immunodeficiency (disease) relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6024 {source="mim2gene_medgen"} ! IL7R relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9666 {source="mim2gene_medgen"} ! PTPRC @@ -237013,6 +239620,8 @@ synonym: "ADSA" EXACT [DOID:0111170] synonym: "Adsa" RELATED [OMIM:608984] synonym: "ataxia, sensory, 1, autosomal dominant" RELATED [MONDO:Lexical, OMIM:608984] synonym: "ataxia, sensory, 1, autosomal dominant; SNAX1" RELATED [OMIM:608984] +synonym: "hereditary ataxia caused by mutation in RNF170" EXACT [MONDO:design_pattern] +synonym: "RNF170 hereditary ataxia" EXACT [MONDO:design_pattern] synonym: "SNAX1" EXACT [DOID:0111170, MONDO:Lexical, OMIM:608984] xref: DOID:0111170 {source="MONDO:equivalentTo"} xref: OMIM:608984 {source="DOID:0111170", source="MONDO:equivalentTo"} @@ -237067,11 +239676,13 @@ id: MONDO:0012170 name: autosomal recessive nonsyndromic deafness 36 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ESPN gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 36" EXACT [DOID:0110494] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ESPN" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 36" EXACT [DOID:0110494, MONDORULE:2] synonym: "deafness, autosomal dominant, without vestibular involvement" RELATED [OMIM:609006] synonym: "deafness, autosomal recessive 36, with or without vestibular involvement" RELATED [MONDO:Lexical, OMIM:609006] synonym: "deafness, autosomal recessive 36, with or without vestibular involvement; DFNB36" RELATED [OMIM:609006] synonym: "DFNB36" EXACT [DOID:0110494, MONDO:Lexical, OMIM:609006] +synonym: "ESPN autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110494 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110494"} xref: MESH:C563815 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -237179,7 +239790,7 @@ xref: DOID:0110244 {source="MONDO:equivalentTo"} xref: MESH:C563812 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:609026 {source="DOID:0110244", source="MONDO:equivalentTo"} xref: UMLS:C1836942 {source="NCBI:mim2gene_medline", source="OMIM:609026", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C563812", source="OMIM:609026"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110244", source="MESH:C563812", source="OMIM:609026"} ! cataract (disease) [Term] id: MONDO:0012176 @@ -237232,7 +239843,7 @@ property_value: confidence "3.7222222222222223" xsd:double [Term] id: MONDO:0012178 name: intellectual disability with optic atrophy, facial dysmorphism, microcephaly, and short stature -synonym: "mental retardation with optic atrophy, facial DYSMORPHISM, microcephaly, and short stature" RELATED [OMIM:609037] +synonym: "mental retardation with optic atrophy, facial dysmorphism, microcephaly, and short stature" RELATED [OMIM:609037] xref: MESH:C563810 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:609037 {source="MONDO:equivalentTo"} xref: UMLS:C1836915 {source="NCBI:mim2gene_medline", source="OMIM:609037", source="MONDO:equivalentTo"} @@ -237264,6 +239875,8 @@ synonym: "arrhythmogenic right ventricular dysplasia, familial, type 9" EXACT [M synonym: "ARVC9" EXACT [DOID:0110077] synonym: "ARVD9" EXACT [DOID:0110077, MONDO:Lexical, OMIM:609040] synonym: "familial arrhythmogenic right ventricular dysplasia 9" EXACT [DOID:0110077] +synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in PKP2" EXACT [MONDO:design_pattern] +synonym: "PKP2 familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern] xref: DOID:0110077 {source="MONDO:equivalentTo"} xref: ICD10:I42.8 {source="DOID:0110077"} xref: MESH:C563808 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -237271,7 +239884,7 @@ xref: OMIM:609040 {source="DOID:0110077", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="OMIM:609040", source="MONDO:subClassOf"} xref: UMLS:C1836906 {source="NCBI:mim2gene_medline", source="OMIM:609040", source="MONDO:equivalentTo"} is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia -is_a: MONDO:0016587 {source="MESH:C563808", source="MONDO:Redundant", source="OMIM:609040"} ! arrhythmogenic right ventricular cardiomyopathy +is_a: MONDO:0016587 {source="DOID:0110077", source="MESH:C563808", source="MONDO:Redundant", source="OMIM:609040"} ! arrhythmogenic right ventricular cardiomyopathy intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9024 ! PKP2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9024 {source="mim2gene_medgen"} ! PKP2 @@ -237295,7 +239908,7 @@ xref: OMIM:609041 {source="DOID:0110778", source="ORDO:101007/e", source="MONDO: xref: Orphanet:101007 {source="OMIM:609041", source="DOID:0110778", source="MONDO:equivalentTo"} xref: UMLS:C1836899 {source="NCBI:mim2gene_medline", source="OMIM:609041", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:101007"} is_a: MONDO:0015089 {source="Orphanet:101007"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:609041", source="Orphanet:101007/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110778", source="MESH:C563807", source="MONDO:Redundant", source="OMIM:609041", source="Orphanet:101007/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.611111111111114" xsd:double [Term] @@ -237427,7 +240040,7 @@ xref: OMIM:609055 {source="Orphanet:228357", source="ORDO:228357/e", source="DOI xref: Orphanet:228357 {source="OMIM:609055", source="DOID:0110733", source="MONDO:equivalentTo"} xref: Orphanet:79264 {source="OMIM:609055", source="MONDO:subClassOf"} xref: UMLS:C1836841 {source="OMIM:609055", source="NCBI:mim2gene_medline", source="Orphanet:228357"} -is_a: MONDO:0016295 {source="MONDO:Redundant", source="OMIM:609055", source="Orphanet:228357/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID:0110733", source="MONDO:Redundant", source="OMIM:609055", source="Orphanet:228357/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0019262 {source="Orphanet:228357"} ! juvenile neuronal ceroid lipofuscinosis property_value: confidence "0.625" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6618/neuronal-ceroid-lipofuscinosis-9 xsd:anyURI {source="GARD:0006618"} @@ -237476,8 +240089,10 @@ def: "Hepatoencephalopathy due to combined oxidative phosphorylation deficiency subset: ordo_disease {source="Orphanet:137681"} synonym: "combined oxidative phosphorylation deficiency 1" RELATED [MONDO:Lexical, OMIM:609060] synonym: "combined oxidative phosphorylation deficiency 1; COXPD1" RELATED [OMIM:609060] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in GFM1" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 1" EXACT [MONDORULE:1, OMIM:609060] synonym: "COXPD1" RELATED [MONDO:Lexical, OMIM:609060] +synonym: "GFM1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] synonym: "Hepatoencephalopathy due to COXPD1" EXACT [Orphanet:137681] synonym: "Hepatoencephalopathy, early fatal progressive" RELATED [OMIM:609060] xref: ICD10:E88.8 {source="ORDO:137681/attributed", source="ORDO:137681/ntbt", source="Orphanet:137681"} @@ -237487,9 +240102,11 @@ xref: OMIM:609060 {source="ORDO:137681/e", source="MONDO:equivalentTo", source=" xref: Orphanet:137681 {source="OMIM:609060", source="MONDO:equivalentTo"} xref: UMLS:C1836797 {source="NCBI:mim2gene_medline", source="OMIM:609060", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:137681"} is_a: MONDO:0000732 {source="DC-OMIM:609060", source="OMIM:609060"} ! combined oxidative phosphorylation deficiency -is_a: MONDO:0005066 {source="NCIT:C125663", source="Orphanet:137681/inferred"} ! metabolic disease +is_a: MONDO:0005066 {source="MESH:C563797/inferred", source="NCIT:C125663", source="Orphanet:137681/inferred"} ! metabolic disease is_a: MONDO:0015115 {source="Orphanet:137681"} ! rare metabolic liver disease is_a: MONDO:0018157 {source="Orphanet:137681"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis +intersection_of: MONDO:0000732 {source="mim2gene_medgen"} ! combined oxidative phosphorylation deficiency +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13780 {source="mim2gene_medgen"} ! GFM1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13780 {source="mim2gene_medgen"} ! GFM1 property_value: confidence "2.941176470588235" xsd:double @@ -237519,6 +240136,8 @@ id: MONDO:0012193 name: autosomal dominant limb-girdle muscular dystrophy type 1G def: "Autosomal dominant limb-girdle muscular dystrophy (LGMD1G) is a mild subtype of autosomal dominant limb-girdle muscular dystrophy characterized by a typically adult onset of mild, progressive, proximal weakness of pelvic and shoulder girdle muscles and progressive, permanent finger and toes flexion limitation without flexion contractures. Normal to highly elevated creatine kinase serum levels are observed." [Orphanet:55596] subset: ordo_disease {source="Orphanet:55596"} +synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in HNRNPDL" EXACT [MONDO:design_pattern] +synonym: "HNRNPDL autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "LGMD1G" EXACT [DOID:0110306, MONDO:Lexical, OMIM:609115, Orphanet:55596] synonym: "limb-girdle muscular dystrophy type 1G" RELATED [GARD:0012531] synonym: "limb-girdle muscular dystrophy, type 1G" RELATED [MONDO:Lexical, OMIM:609115] @@ -237576,12 +240195,14 @@ property_value: confidence "6.2857142857142865" xsd:double id: MONDO:0012196 name: autosomal dominant auditory neuropathy 1 def: "Any auditory neuropathy in which the cause of the disease is a mutation in the DIAPH3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "auditory neuropathy caused by mutation in DIAPH3" EXACT [MONDO:design_pattern] synonym: "auditory neuropathy, autosomal dominant, 1" RELATED [MONDO:Lexical, OMIM:609129] synonym: "auditory neuropathy, autosomal dominant, 1; AUNA1" RELATED [OMIM:609129] synonym: "auditory neuropathy, autosomal dominant, type 1" EXACT [MONDORULE:1, OMIM:609129] synonym: "auditory neuropathy, nonsyndromic dominant" RELATED [OMIM:609129] synonym: "AUNA1" EXACT [DOID:0060690, MONDO:Lexical, OMIM:609129] synonym: "autosomal dominant auditory neuropathy type 1" EXACT [DOID:0060690, MONDORULE:1] +synonym: "DIAPH3 auditory neuropathy" EXACT [MONDO:design_pattern] synonym: "nonsyndromic dominant auditory neuropathy" EXACT [DOID:0060690] synonym: "NSDAN" EXACT [DOID:0060690] xref: DOID:0060690 {source="MONDO:equivalentTo"} @@ -237663,9 +240284,11 @@ property_value: confidence "16.142857142857142" xsd:double id: MONDO:0012199 name: posterior polymorphous corneal dystrophy 2 def: "Any posterior polymorphous corneal dystrophy in which the cause of the disease is a mutation in the COL8A2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "COL8A2 posterior polymorphous corneal dystrophy" EXACT [MONDO:design_pattern] synonym: "corneal dystrophy, POSTERIOR polymorphous, 2" RELATED [MONDO:Lexical, OMIM:609140] synonym: "corneal dystrophy, POSTERIOR polymorphous, 2; PPCD2" RELATED [OMIM:609140] synonym: "corneal dystrophy, posterior polymorphous, type 2" EXACT [MONDORULE:1, OMIM:609140] +synonym: "posterior polymorphous corneal dystrophy caused by mutation in COL8A2" EXACT [MONDO:design_pattern] synonym: "posterior polymorphous corneal dystrophy type 2" EXACT [DOID:0110856, MONDORULE:1] synonym: "PPCD2" RELATED [MONDO:Lexical, OMIM:609140] synonym: "Ppcd2" EXACT [DOID:0110856] @@ -237688,9 +240311,11 @@ def: "Any posterior polymorphous corneal dystrophy in which the cause of the dis synonym: "corneal dystrophy, POSTERIOR polymorphous, 3" RELATED [MONDO:Lexical, OMIM:609141] synonym: "corneal dystrophy, POSTERIOR polymorphous, 3; PPCD3" RELATED [OMIM:609141] synonym: "corneal dystrophy, posterior polymorphous, type 3" EXACT [MONDORULE:1, OMIM:609141] +synonym: "posterior polymorphous corneal dystrophy caused by mutation in ZEB1" EXACT [MONDO:design_pattern] synonym: "posterior polymorphous corneal dystrophy type 3" EXACT [DOID:0110857, MONDORULE:1] synonym: "PPCD3" RELATED [MONDO:Lexical, OMIM:609141] synonym: "Ppcd3" EXACT [DOID:0110857] +synonym: "ZEB1 posterior polymorphous corneal dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110857 {source="MONDO:equivalentTo"} xref: ICD10:H18.50 {source="DOID:0110857"} xref: MESH:C563788 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -237792,9 +240417,11 @@ subset: ordo_disease {source="Orphanet:228169"} synonym: "ADSD" EXACT [MONDO:Lexical, OMIM:609161, Orphanet:228169] synonym: "ADSD1" RELATED [OMIM:609161] synonym: "autosomal dominant striatal neurodegeneration" RELATED [Orphanet:228169] +synonym: "PDE8B striatal degeneration, autosomal dominant" EXACT [MONDO:design_pattern] synonym: "striatal DEGENERATION, autosomal dominant" RELATED [MONDO:Lexical, OMIM:609161] synonym: "striatal Degeneration, autosomal dominant 1" RELATED [OMIM:609161] synonym: "striatal DEGENERATION, autosomal dominant 1; ADSD1" RELATED [OMIM:609161] +synonym: "striatal degeneration, autosomal dominant caused by mutation in PDE8B" EXACT [MONDO:design_pattern] synonym: "striatal DEGENERATION, autosomal dominant; ADSD" RELATED [OMIM:609161] xref: OMIM:609161 {source="Orphanet:228169", source="ORDO:228169/e", source="MONDO:equivalentTo"} xref: Orphanet:228169 {source="OMIM:609161", source="MONDO:equivalentTo"} @@ -237930,7 +240557,7 @@ xref: OMIM:609180 {source="ORDO:79323/e", source="Orphanet:79323", source="MONDO xref: Orphanet:79323 {source="OMIM:609180", source="MONDO:equivalentTo"} xref: UMLS:C1836669 {source="NCBI:mim2gene_medline", source="Orphanet:79323", source="OMIM:609180", source="MEDGEN:kboom-pr98-c99", source="NCIT:C126872", source="MONDO:equivalentTo"} is_a: MONDO:0005500 {source="DC-OMIM:609180", source="MONDOLEX:0012211"} ! congenital disorder of glycosylation type I -is_a: MONDO:0015286 {source="MESH:C535744", source="MONDO:0012211/inferred", source="MONDO:Redundant", source="MONDOLEX:0012211/inferred", source="OMIM:609180", source="Orphanet:79323/inferred"} ! congenital disorder of glycosylation +is_a: MONDO:0015286 {source="MESH:C535744", source="MONDO:0012211/inferred", source="MONDO:Redundant", source="MONDOLEX:0012211/inferred", source="NCIT:C126872", source="OMIM:609180", source="Orphanet:79323/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017749 {source="Orphanet:79323"} ! disorder of multiple glycosylation is_a: MONDO:0018286 {source="Orphanet:79323"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature is_a: MONDO:0018287 {source="Orphanet:79323"} ! congenital disorder of glycosylation with epilepsy as a major feature @@ -237948,7 +240575,9 @@ synonym: "LDS1" RELATED [MONDO:Lexical, OMIM:609192] synonym: "Loeys-Dietz aortic aneurysm syndrome" RELATED [OMIM:609192] synonym: "Loeys-Dietz syndrome 1" EXACT [MONDO:Lexical, OMIM:609192] synonym: "Loeys-Dietz syndrome 1; LDS1" RELATED [OMIM:609192] +synonym: "Loeys-Dietz syndrome caused by mutation in TGFBR1" EXACT [MONDO:design_pattern] synonym: "Loeys-Dietz syndrome type 1" EXACT [MONDORULE:1, OMIM:609192] +synonym: "TGFBR1 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern] xref: GARD:0009458 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: NCIT:C75119 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: OMIM:609192 {source="MONDO:equivalentTo"} @@ -237985,7 +240614,7 @@ xref: Orphanet:101006 {source="OMIM:609195", source="DOID:0110777", source="MOND xref: UMLS:C1836632 {source="NCBI:mim2gene_medline", source="OMIM:609195", source="ORDO:101006/e", source="Orphanet:101006", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} xref: UMLS:C4511959 {source="MEDGEN:kboom-pr96-c96", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:101006"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:609195", source="Orphanet:101006/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110777", source="MESH:C536862", source="MONDO:Redundant", source="OMIM:609195", source="Orphanet:101006/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.33333333333334" xsd:double [Term] @@ -238008,6 +240637,7 @@ id: MONDO:0012215 name: myofibrillar myopathy 3 def: "Distal myotilinopathy is a rare, late adult-onset myofibrillar myopathy characterized by progressive distal muscle weakness associated with peripheral neuropathy and hyporeflexia. Ambulation may be lost within a few years." [Orphanet:98911] subset: ordo_disease {source="Orphanet:98911"} +synonym: "autosomal dominant distal myopathy caused by mutation in MYOT" EXACT [MONDO:design_pattern] synonym: "distal myotilinopathy" RELATED [Orphanet:98911] synonym: "MFM3" RELATED [MONDO:Lexical, OMIM:609200] synonym: "myofibrillar myopathy type 3" EXACT [DOID:0080094, MONDORULE:1] @@ -238015,6 +240645,7 @@ synonym: "MYOPATHY, myofibrillar, 3" RELATED [MONDO:Lexical, OMIM:609200] synonym: "MYOPATHY, myofibrillar, 3; MFM3" RELATED [OMIM:609200] synonym: "Myopathy, myofibrillar, myotilin-Related" RELATED [OMIM:609200] synonym: "Myopathy, myofibrillar, type 3" EXACT [MONDORULE:1, OMIM:609200] +synonym: "MYOT autosomal dominant distal myopathy" EXACT [MONDO:design_pattern] synonym: "myotilinopathy" EXACT [DOID:0080094, OMIM:609200] xref: DOID:0080094 {source="MONDO:equivalentTo"} xref: ICD10:G71.8 {source="Orphanet:98911", source="ORDO:98911/ntbt", source="ORDO:98911/attributed"} @@ -238049,9 +240680,9 @@ xref: OMIM:609218 {source="ORDO:397618/e", source="Orphanet:397618", source="MON xref: Orphanet:397618 {source="OMIM:609218", source="MONDO:equivalentTo"} xref: UMLS:C1836603 {source="NCBI:mim2gene_medline"} xref: UMLS:C3807873 {source="OMIM:609218"} -is_a: MONDO:0020238 {source="Orphanet:397618"} ! genetic vitreous-retinal disease +is_a: MONDO:0020238 {source="Orphanet:397618"} ! inherited vitreous-retinal disease is_a: MONDO:0020249 {source="Orphanet:397618"} ! hereditary optic neuropathy -is_a: MONDO:0044203 ! foveal hypoplasia +is_a: MONDO:0044203 {source="OMIM:609218"} ! foveal hypoplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/32434 {source="mim2gene_medgen"} ! SLC38A8 property_value: confidence "2.692307692307692" xsd:double @@ -238062,8 +240693,10 @@ def: "Any Bruck syndrome in which the cause of the disease is a mutation in the synonym: "BRKS2" RELATED [MONDO:Lexical, OMIM:609220] synonym: "Bruck syndrome 2" EXACT [MONDO:Lexical, OMIM:609220] synonym: "Bruck syndrome 2; BRKS2" RELATED [OMIM:609220] +synonym: "Bruck syndrome caused by mutation in PLOD2" EXACT [MONDO:design_pattern] synonym: "Bruck syndrome type 2" EXACT [MONDORULE:1, OMIM:609220] synonym: "osteogenesis imperfecta with congenital Joint contractures" RELATED [OMIM:609220] +synonym: "PLOD2 Bruck syndrome" EXACT [MONDO:design_pattern] xref: GARD:0010023 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:609220 {source="MONDO:equivalentTo"} xref: Orphanet:2771 {source="OMIM:609220", source="MONDO:subClassOf"} @@ -238206,8 +240839,10 @@ is_a: MONDO:0003847 {source="MONDO:Redundant"} ! inherited genetic disease id: MONDO:0012225 name: Senior-Loken syndrome 5 def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the IQCB1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "IQCB1 Senior-Loken syndrome" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome 5" EXACT [MONDO:Lexical, OMIM:609254] synonym: "SENIOR-Loken syndrome 5; SLSN5" RELATED [OMIM:609254] +synonym: "Senior-Loken syndrome caused by mutation in IQCB1" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome type 5" EXACT [MONDORULE:1, OMIM:609254] synonym: "SLSN5" RELATED [MONDO:Lexical, OMIM:609254] xref: MESH:C563763 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -238241,7 +240876,7 @@ synonym: "MYP7" EXACT [MONDO:Lexical, OMIM:609256] xref: MESH:C563761 {source="MONDO:equivalentTo"} xref: OMIM:609256 {source="MONDO:equivalentTo"} xref: UMLS:C1836506 {source="NCBI:mim2gene_medline", source="OMIM:609256", source="MONDO:equivalentTo"} -is_a: MONDO:0001384 {source="DC-OMIM:609256", source="OMIM:609256"} ! myopia (disease) +is_a: MONDO:0001384 {source="DC-OMIM:609256", source="MESH:C563761", source="OMIM:609256"} ! myopia (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -238253,7 +240888,7 @@ synonym: "MYP8" EXACT [MONDO:Lexical, OMIM:609257] xref: MESH:C563760 {source="MONDO:equivalentTo"} xref: OMIM:609257 {source="MONDO:equivalentTo"} xref: UMLS:C1836505 {source="NCBI:mim2gene_medline", source="OMIM:609257", source="MONDO:equivalentTo"} -is_a: MONDO:0001384 {source="DC-OMIM:609257", source="OMIM:609257"} ! myopia (disease) +is_a: MONDO:0001384 {source="DC-OMIM:609257", source="MESH:C563760", source="OMIM:609257"} ! myopia (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -238265,7 +240900,7 @@ synonym: "MYP9" EXACT [MONDO:Lexical, OMIM:609258] xref: MESH:C563759 {source="MONDO:equivalentTo"} xref: OMIM:609258 {source="MONDO:equivalentTo"} xref: UMLS:C1836504 {source="NCBI:mim2gene_medline", source="OMIM:609258", source="MONDO:equivalentTo"} -is_a: MONDO:0001384 {source="DC-OMIM:609258", source="OMIM:609258"} ! myopia (disease) +is_a: MONDO:0001384 {source="DC-OMIM:609258", source="MESH:C563759", source="OMIM:609258"} ! myopia (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -238277,7 +240912,7 @@ synonym: "MYP10" EXACT [MONDO:Lexical, OMIM:609259] xref: MESH:C563758 {source="MONDO:equivalentTo"} xref: OMIM:609259 {source="MONDO:equivalentTo"} xref: UMLS:C1836503 {source="NCBI:mim2gene_medline", source="OMIM:609259", source="MONDO:equivalentTo"} -is_a: MONDO:0001384 {source="DC-OMIM:609259", source="OMIM:609259"} ! myopia (disease) +is_a: MONDO:0001384 {source="DC-OMIM:609259", source="MESH:C563758", source="OMIM:609259"} ! myopia (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -238287,6 +240922,7 @@ def: "Autosomal dominant Charcot-Marie-Tooth disease type 2A2 (CMT2A2) is a subt subset: ordo_disease {source="Orphanet:99947"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2A2" EXACT [DOID:0110155] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2A2" RELATED [Orphanet:99947] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in MFN2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2" RELATED [OMIM:609260] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A" RELATED [OMIM:609260] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2A2A; CMT2A2A" RELATED [OMIM:609260] @@ -238299,10 +240935,11 @@ synonym: "Charcot-Marie-Tooth neuropathy, type 2A2" RELATED [OMIM:609260] synonym: "CMT2A2" EXACT [DOID:0110155, MONDO:Lexical, OMIM:609260, Orphanet:99947] synonym: "CMT2A2A" RELATED [OMIM:609260] synonym: "hereditary motor and sensory neuropathy IIA2" EXACT [DOID:0110155] -synonym: "hereditary motor and sensory neuropathy Iia2" RELATED [OMIM:609260] +synonym: "hereditary motor and sensory neuropathy IIa2" RELATED [OMIM:609260] synonym: "HMSN IIA2" EXACT [DOID:0110155] -synonym: "HMSN Iia2" RELATED [OMIM:609260] +synonym: "HMSN IIa2" RELATED [OMIM:609260] synonym: "HMSN2A2" EXACT [DOID:0110155] +synonym: "MFN2 Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110155 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="Orphanet:99947", source="ORDO:99947/attributed", source="DOID:0110155", source="ORDO:99947/ntbt"} xref: MESH:C563757 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -238310,7 +240947,7 @@ xref: NCIT:C150646 {source="MONDO:equivalentTo"} xref: OMIM:609260 {source="Orphanet:99947", source="DOID:0110155", source="MONDO:equivalentTo", source="ORDO:99947/e"} xref: Orphanet:99947 {source="DOID:0110155", source="OMIM:609260", source="MONDO:equivalentTo"} xref: UMLS:C1836485 {source="Orphanet:99947", source="NCBI:mim2gene_medline", source="OMIM:609260", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C563757", source="MONDO:Redundant", source="OMIM:609260", source="Orphanet:99947/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110155/inferred", source="MESH:C563757", source="MONDO:Redundant", source="NCIT:C150646/inferred", source="OMIM:609260", source="Orphanet:99947/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110155", source="Orphanet:99947"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16877 ! MFN2 @@ -238334,9 +240971,11 @@ id: MONDO:0012233 name: Li-Fraumeni syndrome 2 def: "Any Li-Fraumeni syndrome in which the cause of the disease is a mutation in the CHEK2 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +synonym: "CHEK2 Li-Fraumeni syndrome" EXACT [MONDO:design_pattern] synonym: "LFS2" RELATED [MONDO:Lexical, OMIM:609265] synonym: "Li-Fraumeni syndrome 2" EXACT [MONDO:Lexical, OMIM:609265] synonym: "LI-Fraumeni syndrome 2; LFS2" RELATED [OMIM:609265] +synonym: "Li-Fraumeni syndrome caused by mutation in CHEK2" EXACT [MONDO:design_pattern] synonym: "Li-Fraumeni syndrome type 2" EXACT [MONDORULE:1, OMIM:609265] xref: MESH:C563755 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:609265 {source="MONDO:equivalentTo"} @@ -238360,7 +240999,7 @@ xref: MESH:C563754 {source="MONDO:equivalentTo"} xref: OMIM:609266 {source="MONDO:equivalentTo"} xref: Orphanet:524 {source="MONDO:subClassOf", source="OMIM:609266"} xref: UMLS:C1836481 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609266"} -is_a: MONDO:0018875 {source="DC-OMIM:609266", source="OMIM:609266"} ! Li-Fraumeni syndrome +is_a: MONDO:0018875 {source="DC-OMIM:609266", source="MESH:C563754", source="OMIM:609266"} ! Li-Fraumeni syndrome property_value: confidence "1.9982363315696645" xsd:double [Term] @@ -238398,16 +241037,18 @@ xref: MESH:C563752 {source="MONDO:equivalentTo"} xref: OMIM:609271 {source="MONDO:equivalentTo"} xref: Orphanet:2335 {source="OMIM:609271"} xref: UMLS:C1836473 {source="NCBI:mim2gene_medline", source="OMIM:609271", source="MONDO:equivalentTo"} -is_a: MONDO:0015486 {source="DC-OMIM:609271", source="OMIM:609271"} ! keratoconus (disease) +is_a: MONDO:0015486 {source="DC-OMIM:609271", source="MESH:C563752", source="OMIM:609271"} ! keratoconus (disease) [Term] id: MONDO:0012237 name: nemaline myopathy 6 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the KBTBD13 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KBTBD13 nemaline myopathy" EXACT [MONDO:design_pattern] synonym: "NEM6" RELATED [MONDO:Lexical, OMIM:609273] synonym: "nemaline myopathy 6" EXACT [MONDO:Lexical, OMIM:609273] synonym: "nemaline myopathy 6, autosomal dominant" EXACT [DOID:0110935] synonym: "nemaline MYOPATHY 6; NEM6" RELATED [OMIM:609273] +synonym: "nemaline myopathy caused by mutation in KBTBD13" EXACT [MONDO:design_pattern] synonym: "nemaline Myopathy type 6" EXACT [MONDORULE:1, OMIM:609273] synonym: "nemaline myopathy type 6" EXACT [DOID:0110935, MONDORULE:1] xref: DOID:0110935 {source="MONDO:equivalentTo"} @@ -238416,7 +241057,7 @@ xref: OMIM:609273 {source="DOID:0110935", source="MONDO:equivalentTo"} xref: Orphanet:607 {source="OMIM:609273", source="MONDO:subClassOf"} xref: UMLS:C1836472 {source="OMIM:609273", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy -is_a: MONDO:0018958 {source="MESH:C538398", source="MONDO:Redundant", source="OMIM:609273"} ! nemaline myopathy +is_a: MONDO:0018958 {source="DOID:0110935", source="MESH:C538398", source="MONDO:Redundant", source="OMIM:609273"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37227 ! KBTBD13 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37227 {source="mim2gene_medgen"} ! KBTBD13 @@ -238427,10 +241068,12 @@ id: MONDO:0012238 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2 def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the SLC25A4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "PEOA2" RELATED [MONDO:Lexical, OMIM:609283] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in SLC25A4" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:609283] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 2; PEOA2" RELATED [OMIM:609283] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:609283] synonym: "progressive external ophthalmoplegia, autosomal dominant 2" RELATED [OMIM:609283] +synonym: "SLC25A4 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern] xref: MESH:C563750 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:609283 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="OMIM:609283", source="MONDO:subClassOf"} @@ -238451,8 +241094,10 @@ synonym: "Nem1" EXACT [DOID:0110926, MONDO:Lexical, OMIM:609284] synonym: "nemaline myopathy 1" EXACT [MONDO:Lexical, OMIM:609284] synonym: "nemaline myopathy 1, autosomal dominant or recessive" EXACT [DOID:0110926] synonym: "nemaline MYOPATHY 1; Nem1" RELATED [OMIM:609284] +synonym: "nemaline myopathy caused by mutation in TPM3" EXACT [MONDO:design_pattern] synonym: "nemaline Myopathy type 1" EXACT [MONDORULE:1, OMIM:609284] synonym: "nemaline myopathy type 1" EXACT [DOID:0110926, MONDORULE:1] +synonym: "TPM3 nemaline myopathy" EXACT [MONDO:design_pattern] xref: DOID:0110926 {source="MONDO:equivalentTo"} xref: MESH:C538348 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:609284 {source="MONDO:equivalentTo", source="DOID:0110926"} @@ -238462,7 +241107,7 @@ xref: UMLS:C1836448 {source="OMIM:609284", source="NCBI:mim2gene_medline", sourc xref: UMLS:C3714994 {source="OMIM:609284"} is_a: MONDO:0015736 {source="ORDO:171433/btnt"} ! intermediate nemaline myopathy is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy -is_a: MONDO:0018958 {source="MESH:C538348", source="MONDO:Redundant", source="OMIM:609284"} ! nemaline myopathy +is_a: MONDO:0018958 {source="DOID:0110926", source="MESH:C538348", source="MONDO:Redundant", source="OMIM:609284"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12012 ! TPM3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12012 {source="mim2gene_medgen"} ! TPM3 @@ -238477,8 +241122,10 @@ synonym: "NEM4" EXACT [DOID:0110932, MONDO:Lexical, OMIM:609285] synonym: "nemaline myopathy 4" EXACT [MONDO:Lexical, OMIM:609285] synonym: "nemaline myopathy 4, autosomal dominant" EXACT [DOID:0110932] synonym: "nemaline MYOPATHY 4; NEM4" RELATED [OMIM:609285] +synonym: "nemaline myopathy caused by mutation in TPM2" EXACT [MONDO:design_pattern] synonym: "nemaline Myopathy type 4" EXACT [MONDORULE:1, OMIM:609285] synonym: "nemaline myopathy type 4" EXACT [DOID:0110932, MONDORULE:1] +synonym: "TPM2 nemaline myopathy" EXACT [MONDO:design_pattern] xref: DOID:0110932 {source="MONDO:equivalentTo"} xref: MESH:C538351 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:609285 {source="DOID:0110932", source="MONDO:equivalentTo"} @@ -238488,7 +241135,7 @@ xref: UMLS:C1836447 {source="OMIM:609285", source="NCBI:mim2gene_medline", sourc xref: UMLS:C3807907 {source="OMIM:609285"} is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy -is_a: MONDO:0018958 {source="MESH:C538351", source="MONDO:Redundant", source="OMIM:609285"} ! nemaline myopathy +is_a: MONDO:0018958 {source="DOID:0110932", source="MESH:C538351", source="MONDO:Redundant", source="OMIM:609285"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12011 ! TPM2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12011 {source="mim2gene_medgen"} ! TPM2 @@ -238499,10 +241146,12 @@ id: MONDO:0012241 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the TWNK gene." [MONDO:patterns/disease_series_by_gene] synonym: "PEOA3" RELATED [MONDO:Lexical, OMIM:609286] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in TWNK" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3" EXACT [MONDO:Lexical, OMIM:609286] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3; PEOA3" RELATED [OMIM:609286] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:609286] synonym: "progressive external ophthalmoplegia, autosomal dominant 3" RELATED [OMIM:609286] +synonym: "TWNK progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern] xref: MESH:C563747 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:609286 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="OMIM:609286", source="MONDO:subClassOf"} @@ -238559,10 +241208,12 @@ property_value: confidence "0.7142857142857151" xsd:double id: MONDO:0012245 name: epileptic encephalopathy, early infantile, 3 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC25A22 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in SLC25A22" EXACT [MONDO:design_pattern] synonym: "EIEE3" RELATED [MONDO:Lexical, OMIM:609304] synonym: "epileptic encephalopathy, early infantile, 3" EXACT [MONDO:Lexical, OMIM:609304] synonym: "epileptic encephalopathy, early infantile, 3; EIEE3" RELATED [OMIM:609304] synonym: "epileptic encephalopathy, early infantile, type 3" EXACT [MONDORULE:1, OMIM:609304] +synonym: "SLC25A22 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:609304 {source="MONDO:equivalentTo"} xref: Orphanet:1935 {source="OMIM:609304", source="MONDO:subClassOf"} xref: UMLS:C0270855 {source="NCBI:mim2gene_medline", source="OMIM:609304", source="MONDO:subClassOf"} @@ -238623,6 +241274,7 @@ id: MONDO:0012248 name: autosomal recessive limb-girdle muscular dystrophy type 2K def: "Autosomal recessive limb-girdle muscular dystrophy type 2K (LGMD2K) is a form of limb-girdle muscular dystrophy characterized by the onset of slowly progressive proximal muscle weakness during childhood (with fatigue and difficulty running and climbing stairs) and developmental delay. Mild intellectual deficit and microcephaly, without any obvious structural brain abnormality, are found in all patients. Mild pseudohypertrophy and joint contractures of the ankles have also been reported." [Orphanet:86812] subset: ordo_disease {source="Orphanet:86812"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT1" EXACT [MONDO:design_pattern] synonym: "LGMD2K" EXACT [DOID:0110297, Orphanet:86812] synonym: "limb-girdle muscular dystrophy - intellectual disability" RELATED [GARD:0012535] synonym: "limb-girdle muscular dystrophy type 2K" RELATED [GARD:0012535] @@ -238633,6 +241285,7 @@ synonym: "muscular dystrophy, limb-girdle, type 2K" RELATED [OMIM:609308] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle) type C 1" EXACT [DOID:0110297] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1" RELATED [MONDO:Lexical, OMIM:609308] synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1; MDDGC1" RELATED [OMIM:609308] +synonym: "POMT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110297 {source="MONDO:equivalentTo"} xref: EFO:0009145 {source="MONDO:equivalentTo"} xref: GARD:0012535 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -238647,7 +241300,7 @@ is_a: MONDO:0015152 {source="DOID:0110297", source="MONDOLEX:0012248", source="O is_a: MONDO:0016184 {source="Orphanet:86812"} ! qualitative or quantitative defects of protein O-mannosyltransferase 1 is_a: MONDO:0017745 {source="Orphanet:86812"} ! disorder of O-mannosylglycan synthesis is_a: MONDO:0018286 {source="Orphanet:86812"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature -is_a: MONDO:0020121 {source="NCIT:C133730", source="Orphanet:86812/inferred"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:0110297/inferred", source="EFO:0009145/inferred", source="NCIT:C133730", source="OMIM:609308/inferred", source="Orphanet:86812/inferred", source="linkedlifedata/inferred"} ! muscular dystrophy intersection_of: MONDO:0015152 ! autosomal recessive limb-girdle muscular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9202 ! POMT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9202 {source="mim2gene_medgen"} ! POMT1 @@ -238667,8 +241320,8 @@ xref: NCIT:C6726 {source="MONDO:equivalentTo"} xref: OMIM:609310 {source="MONDO:equivalentTo"} xref: Orphanet:144 {source="MONDO:subClassOf", source="OMIM:609310"} xref: UMLS:C1333991 {source="NCBI:mim2gene_medline", source="OMIM:609310"} -is_a: MONDO:0005835 {source="DC-OMIM:609310"} ! Lynch syndrome -is_a: MONDO:0018630 {source="MONDO:Redundant", source="OMIM:609310"} ! hereditary nonpolyposis colon cancer +is_a: MONDO:0005835 {source="DC-OMIM:609310", source="NCIT:C6726"} ! Lynch syndrome +is_a: MONDO:0018630 {source="MONDO:Redundant", source="NCIT:C6726/inferred", source="OMIM:609310"} ! hereditary nonpolyposis colon cancer relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7127 {source="mim2gene_medgen"} ! MLH1 property_value: confidence "1.8332670714421453" xsd:double @@ -238680,6 +241333,7 @@ subset: gard_rare {source="GARD:0012442"} subset: ordo_disease {source="Orphanet:99954"} synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4H" EXACT [DOID:0110192] synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4H" EXACT [DOID:0110192] +synonym: "Charcot-Marie-tooth disease type 4 caused by mutation in FGD4" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4H" RELATED [OMIM:609311] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4H" RELATED [OMIM:609311] synonym: "Charcot-Marie-Tooth disease, type 4H" RELATED [GARD:0012442, MONDO:Lexical, OMIM:609311] @@ -238687,6 +241341,7 @@ synonym: "Charcot-Marie-Tooth disease, type 4H; CMT4H" RELATED [OMIM:609311] synonym: "Charcot-Marie-Tooth neuropathy type 4H" EXACT [DOID:0110192] synonym: "Charcot-Marie-Tooth neuropathy, type 4H" RELATED [OMIM:609311] synonym: "CMT4H" EXACT [DOID:0110192, MONDO:Lexical, OMIM:609311, Orphanet:99954] +synonym: "FGD4 Charcot-Marie-tooth disease type 4" EXACT [MONDO:design_pattern] xref: DOID:0110192 {source="MONDO:equivalentTo"} xref: GARD:0012442 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="ORDO:99954/ntbt", source="Orphanet:99954", source="DOID:0110192", source="ORDO:99954/attributed"} @@ -238695,7 +241350,7 @@ xref: OMIM:609311 {source="Orphanet:99954", source="ORDO:99954/e", source="DOID: xref: Orphanet:99954 {source="DOID:0110192", source="OMIM:609311", source="MONDO:equivalentTo"} xref: SCTID:715802008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1836336 {source="NCBI:mim2gene_medline", source="Orphanet:99954", source="OMIM:609311", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C563740", source="MONDO:Redundant", source="OMIM:609311", source="Orphanet:99954/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110192/inferred", source="MESH:C563740", source="MONDO:Redundant", source="OMIM:609311", source="Orphanet:99954/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018995 {source="DOID:0110192", source="Orphanet:99954", source="linkedlifedata"} ! Charcot-Marie-tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-tooth disease type 4 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19125 ! FGD4 @@ -238737,11 +241392,13 @@ name: rhabdoid tumor predisposition syndrome 1 def: "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCB1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "At/RT" RELATED [OMIM:609322] synonym: "brain tumor, posterior fossa, of infancy, familial" RELATED [OMIM:609322] +synonym: "familial rhabdoid tumor caused by mutation in SMARCB1" EXACT [MONDO:design_pattern] synonym: "malignant rhabdoid tumor, somatic" RELATED [OMIM:609322] synonym: "rhabdoid tumor predisposition syndrome 1" EXACT [MONDO:Lexical, OMIM:609322] synonym: "rhabdoid tumor predisposition syndrome 1; RTPS1" RELATED [OMIM:609322] synonym: "rhabdoid tumor predisposition syndrome type 1" EXACT [MONDORULE:1, OMIM:609322] synonym: "RTPS1" RELATED [MONDO:Lexical, OMIM:609322] +synonym: "SMARCB1 familial rhabdoid tumor" EXACT [MONDO:design_pattern] synonym: "teratoid tumor, atypical" RELATED [OMIM:609322] xref: OMIM:609322 {source="MONDO:equivalentTo"} xref: Orphanet:231108 {source="MONDO:subClassOf", source="OMIM:609322"} @@ -238800,8 +241457,10 @@ id: MONDO:0012256 name: hereditary spastic paraplegia 28 def: "Autosomal recessive spastic paraplegia type 28 is a pure form of hereditary spastic paraplegia characterized by a childhood or adolescent onset of slowly progressive, pure crural muscle spastic paraparesis which manifests with mild lower limb weakness, gait difficulties, extensor plantar responses, and hyperreflexia of lower extremities. Less common manifestations reported include cerebellar oculomotor disturbance with saccadic eye pursuit, pes cavus and scoliosis. Some patients also present pin and vibration sensory loss in distal legs." [Orphanet:101008] subset: ordo_disease {source="Orphanet:101008"} +synonym: "autosomal recessive pure spastic paraplegia caused by mutation in DDHD1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 28" EXACT [DOID:0110779] synonym: "autosomal recessive spastic paraplegia type 28" EXACT [DOID:0110779] +synonym: "DDHD1 autosomal recessive pure spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 28" EXACT [DOID:0110779, MONDORULE:2] synonym: "spastic paraplegia 28, autosomal recessive" RELATED [MONDO:Lexical, OMIM:609340] synonym: "spastic paraplegia 28, autosomal recessive; SPG28" RELATED [OMIM:609340] @@ -238813,7 +241472,7 @@ xref: OMIM:609340 {source="ORDO:101008/e", source="DOID:0110779", source="MONDO: xref: Orphanet:101008 {source="OMIM:609340", source="DOID:0110779", source="MONDO:equivalentTo"} xref: UMLS:C1836295 {source="OMIM:609340", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:101008"} is_a: MONDO:0015090 {source="Orphanet:101008"} ! autosomal recessive pure spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:609340", source="Orphanet:101008/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110779", source="MONDO:Redundant", source="OMIM:609340", source="Orphanet:101008/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015090 ! autosomal recessive pure spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19714 ! DDHD1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19714 {source="mim2gene_medgen"} ! DDHD1 @@ -238883,7 +241542,7 @@ xref: OMIM:609376 {source="MONDO:equivalentTo", source="DOID:0110261"} xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:609376"} xref: Orphanet:98991 {source="MONDO:subClassOf", source="OMIM:609376"} xref: UMLS:C1836272 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609376"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C563728", source="MONDO:Redundant", source="OMIM:609376"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110261", source="MESH:C563728", source="MONDO:Redundant", source="OMIM:609376"} ! cataract (disease) is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract is_a: MONDO:0020376 {source="ORDO:98991/btnt"} ! early-onset nuclear cataract is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt"} ! early-onset partial cataract @@ -238955,9 +241614,11 @@ id: MONDO:0012266 name: preeclampsia/eclampsia 4 def: "Any preeclampsia in which the cause of the disease is a mutation in the STOX1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "PEE4" RELATED [MONDO:Lexical, OMIM:609404] +synonym: "preeclampsia caused by mutation in STOX1" EXACT [MONDO:design_pattern] synonym: "preeclampsia/eclampsia 4" EXACT [MONDO:Lexical, OMIM:609404] synonym: "PREECLAMPSIA/eclampsia 4; PEE4" RELATED [OMIM:609404] synonym: "Preeclampsia/eclampsia type 4" EXACT [MONDORULE:1, OMIM:609404] +synonym: "STOX1 preeclampsia" EXACT [MONDO:design_pattern] xref: MESH:C563724 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:609404 {source="MONDO:equivalentTo"} xref: Orphanet:275555 {source="OMIM:609404", source="MONDO:subClassOf"} @@ -239008,7 +241669,7 @@ xref: SCTID:266201009 {source="DOID:635"} xref: SCTID:62479008 {source="EFO:0000765", source="DOID:635", source="MONDO:kboom-pr-1.00/0.81/10.53", source="MONDO:equivalentTo"} xref: UMLS:C0001175 {source="DOID:635", source="NCIT:C2851"} is_a: MONDO:0003780 {source="NCIT:C2851"} ! T-cell immunodeficiency -is_a: MONDO:0005109 {source="DOID:635", source="EFO:0000765", source="MESH:D000163", source="MONDO:Entailed", source="linkedlifedata"} ! HIV infectious disease +is_a: MONDO:0005109 {source="DOID:635", source="EFO:0000765", source="MESH:D000163", source="MONDO:Entailed", source="linkedlifedata", source="linkedlifedata/inferred"} ! HIV infectious disease intersection_of: MONDO:0002254 ! syndromic disease intersection_of: MONDO:0005109 ! HIV infectious disease relationship: disease_causes_dysfunction_of CL:0000492 ! CD4-positive helper T cell @@ -239098,7 +241759,9 @@ id: MONDO:0012273 name: autosomal recessive nonsyndromic deafness 48 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CIB2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 48" EXACT [DOID:0110505] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CIB2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 48" EXACT [DOID:0110505, MONDORULE:2] +synonym: "CIB2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal recessive 48" RELATED [MONDO:Lexical, OMIM:609439] synonym: "deafness, autosomal recessive 48; DFNB48" RELATED [OMIM:609439] synonym: "deafness, autosomal recessive type 48" EXACT [MONDORULE:2, OMIM:609439] @@ -239437,8 +242100,10 @@ synonym: "IMMUNOGLOBULIN A deficiency 2; IGAD2" RELATED [OMIM:609529] synonym: "Immunoglobulin a deficiency type 2" EXACT [MONDORULE:1, OMIM:609529] synonym: "Immunoglobulin A, selective deficiency of, TACI related" RELATED [GARD:0010198] synonym: "Immunoglobulin A, selective deficiency of, TACI-Related" RELATED [OMIM:609529] +synonym: "selective IgA deficiency disease caused by mutation in TNFRSF13B" EXACT [MONDO:design_pattern] synonym: "TACI" EXACT [Orphanet:120169] synonym: "TNF receptor superfamily member 13B" RELATED [Orphanet:120169] +synonym: "TNFRSF13B selective IgA deficiency disease" EXACT [MONDO:design_pattern] xref: GARD:0010198 {source="MONDO:equivalentTo"} xref: MESH:C536291 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:609529 {source="MONDO:equivalentTo"} @@ -239477,11 +242142,13 @@ id: MONDO:0012293 name: autosomal recessive nonsyndromic deafness 23 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PCDH15 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 23" EXACT [DOID:0110481] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PCDH15" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 23" EXACT [DOID:0110481, MONDORULE:2] synonym: "deafness, autosomal recessive 23" RELATED [MONDO:Lexical, OMIM:609533] synonym: "deafness, autosomal recessive 23; DFNB23" RELATED [OMIM:609533] synonym: "deafness, autosomal recessive type 23" EXACT [MONDORULE:2, OMIM:609533] synonym: "DFNB23" EXACT [DOID:0110481, MONDO:Lexical, OMIM:609533] +synonym: "PCDH15 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110481 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110481"} xref: MESH:C563705 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -239518,11 +242185,13 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26 id: MONDO:0012295 name: complement component 5 deficiency def: "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the fifth complement component, C5. C5 deficiency may also be acquired acutely post-infection. If C5 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the second decade of life and are consistent with the signs of recurrent systemic infection. Deficiency of serum C5 and its major cleavage product, C5b, a component of the membrane attack complex, increases susceptibility to Neisserial infections." [NCIT:P378] +synonym: "C5 complement deficiency" EXACT [MONDO:design_pattern] synonym: "C5 deficiency" EXACT [DOID:8158] synonym: "C5 deficiency" RELATED [OMIM:609536] synonym: "C5D" RELATED [MONDO:Lexical, OMIM:609536] synonym: "complement component 5 deficiency" EXACT [MONDO:Lexical, OMIM:609536] synonym: "complement component 5 deficiency; C5D" RELATED [OMIM:609536] +synonym: "complement deficiency caused by mutation in C5" EXACT [MONDO:design_pattern] synonym: "dysfunction of the fifth component of complement (C5)" RELATED [GARD:0006878] xref: DOID:8158 {source="MONDO:equivalentTo"} xref: GARD:0006878 {source="OMIM-shared", source="MONDO:equivalentTo"} @@ -239531,7 +242200,7 @@ xref: OMIM:609536 {source="DOID:8158", source="MONDO:equivalentTo"} xref: Orphanet:169150 {source="DOID:8158", source="OMIM:609536", source="MONDO:subClassOf"} xref: UMLS:C0343047 {source="NCBI:mim2gene_medline", source="OMIM:609536", source="NCIT:C9469", source="MONDO:equivalentTo"} is_a: MONDO:0000015 {source="DC-OMIM:609536"} ! classic complement early component deficiency -is_a: MONDO:0003832 {source="MONDO:Redundant", source="NCIT:C9469"} ! complement deficiency +is_a: MONDO:0003832 {source="DOID:8158", source="MONDO:Redundant", source="NCIT:C9469"} ! complement deficiency is_a: MONDO:0015700 {source="ORDO:169150/btnt"} ! immunodeficiency due to a late component of complement deficiency intersection_of: MONDO:0003832 ! complement deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1331 ! C5 @@ -239594,7 +242263,9 @@ is_a: MONDO:0003847 {source="MESH:C563701/inferred"} ! inherited genetic disease id: MONDO:0012299 name: nanophthalmos 2 def: "Any nanophthalmia in which the cause of the disease is a mutation in the MFRP gene." [MONDO:patterns/disease_series_by_gene] +synonym: "MFRP nanophthalmia" EXACT [MONDO:design_pattern] synonym: "Nanophthalmia 2" RELATED [OMIM:609549] +synonym: "nanophthalmia caused by mutation in MFRP" EXACT [MONDO:design_pattern] synonym: "nanophthalmos 2" EXACT [MONDO:Lexical, OMIM:609549] synonym: "nanophthalmos 2; NNO2" RELATED [OMIM:609549] synonym: "nanophthalmos type 2" EXACT [MONDORULE:1, OMIM:609549] @@ -239756,7 +242427,7 @@ xref: Orphanet:220497 {source="OMIM:609583", source="MONDO:equivalentTo"} xref: SCTID:716999001 {source="MONDO:equivalentTo"} xref: UMLS:C1846790 {source="OMIM:609583", source="NCBI:mim2gene_medline", source="NCIT:C74997", source="GARD:0010169"} is_a: MONDO:0017118 {source="MONDO:Redundant", source="Orphanet:220497"} ! syndrome with a cerebellar malformation as major feature -is_a: MONDO:0018772 {source="DC-OMIM:609583", source="DOID:0110999", source="NCIT:C74997", source="OMIM:609583"} ! Joubert syndrome +is_a: MONDO:0018772 {source="DC-OMIM:609583", source="DOID:0110999", source="NCIT:C74997", source="OMIM:609583", source="linkedlifedata"} ! Joubert syndrome is_a: MONDO:0019741 {source="Orphanet:220497"} ! familial cystic renal disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7905 {source="mim2gene_medgen"} ! NPHP1 property_value: confidence "0.7367352941176466" xsd:double @@ -239766,8 +242437,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10169/joubert id: MONDO:0012309 name: parietal foramina 2 def: "Any parietal foramina in which the cause of the disease is a mutation in the ALX4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ALX4 parietal foramina" EXACT [MONDO:design_pattern] synonym: "parietal foramina 2" EXACT [MONDO:Lexical, OMIM:609597] synonym: "parietal foramina 2; PFM2" RELATED [OMIM:609597] +synonym: "parietal foramina caused by mutation in ALX4" EXACT [MONDO:design_pattern] synonym: "parietal foramina type 2" EXACT [MONDORULE:1, OMIM:609597] synonym: "PFM2" RELATED [MONDO:Lexical, OMIM:609597] xref: MESH:C566510 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -239807,8 +242480,10 @@ is_a: MONDO:0003847 {source="MESH:C566507/inferred"} ! inherited genetic disease id: MONDO:0012312 name: short QT syndrome type 1 def: "Any short QT syndrome in which the cause of the disease is a mutation in the KCNH2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KCNH2 short QT syndrome" EXACT [MONDO:design_pattern] synonym: "short QT syndrome 1" RELATED [MONDO:Lexical, OMIM:609620] synonym: "short QT syndrome 1; SQT1" RELATED [OMIM:609620] +synonym: "short QT syndrome caused by mutation in KCNH2" EXACT [MONDO:design_pattern] synonym: "short QT syndrome type 1" EXACT [MONDORULE:1, OMIM:609620] synonym: "SQT1" RELATED [MONDO:Lexical, OMIM:609620] synonym: "SQTS" EXACT [Orphanet:51083] @@ -239826,8 +242501,10 @@ property_value: confidence "1.3823529411764706" xsd:double id: MONDO:0012313 name: short QT syndrome type 2 def: "Any short QT syndrome in which the cause of the disease is a mutation in the KCNQ1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KCNQ1 short QT syndrome" EXACT [MONDO:design_pattern] synonym: "short QT syndrome 2" RELATED [MONDO:Lexical, OMIM:609621] synonym: "short QT syndrome 2; SQT2" RELATED [OMIM:609621] +synonym: "short QT syndrome caused by mutation in KCNQ1" EXACT [MONDO:design_pattern] synonym: "short QT syndrome type 2" EXACT [MONDORULE:1, OMIM:609621] synonym: "SQT2" RELATED [MONDO:Lexical, OMIM:609621] xref: MESH:C566505 {source="MONDO:equivalentTo"} @@ -239843,8 +242520,10 @@ property_value: confidence "1.3823529411764706" xsd:double id: MONDO:0012314 name: short QT syndrome type 3 def: "Any short QT syndrome in which the cause of the disease is a mutation in the KCNJ2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KCNJ2 short QT syndrome" EXACT [MONDO:design_pattern] synonym: "short QT syndrome 3" RELATED [MONDO:Lexical, OMIM:609622] synonym: "short QT syndrome 3; SQT3" RELATED [OMIM:609622] +synonym: "short QT syndrome caused by mutation in KCNJ2" EXACT [MONDO:design_pattern] synonym: "short QT syndrome type 3" EXACT [MONDORULE:1, OMIM:609622] synonym: "SQT3" RELATED [MONDO:Lexical, OMIM:609622] xref: MESH:C566504 {source="MONDO:equivalentTo"} @@ -239963,10 +242642,12 @@ is_a: MONDO:0004985 {source="DC-OMIM:609633", source="MESH:C566501", source="MON id: MONDO:0012320 name: migraine, familial hemiplegic, 3 def: "Any familial or sporadic hemiplegic migraine in which the cause of the disease is a mutation in the SCN1A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial or sporadic hemiplegic migraine caused by mutation in SCN1A" EXACT [MONDO:design_pattern] synonym: "FHM3" RELATED [MONDO:Lexical, OMIM:609634] synonym: "migraine, familial hemiplegic, 3" EXACT [MONDO:Lexical, OMIM:609634] synonym: "migraine, familial hemiplegic, 3; FHM3" RELATED [OMIM:609634] synonym: "migraine, familial hemiplegic, type 3" EXACT [MONDORULE:1, OMIM:609634] +synonym: "SCN1A familial or sporadic hemiplegic migraine" EXACT [MONDO:design_pattern] xref: MESH:C566500 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:609634 {source="MONDO:equivalentTo"} xref: Orphanet:569 {source="OMIM:609634", source="MONDO:subClassOf"} @@ -240003,15 +242684,17 @@ name: holoprosencephaly 5 def: "Holoprosencephaly associated with mutations in the ZIC2 gene." [NCIT:C75460] synonym: "holoprosencephaly 5" EXACT [MONDO:Lexical, OMIM:609637] synonym: "holoprosencephaly 5; HPE5" RELATED [OMIM:609637] +synonym: "holoprosencephaly caused by mutation in ZIC2" EXACT [MONDO:design_pattern] synonym: "holoprosencephaly type 5" EXACT [DOID:0110878, MONDORULE:1, OMIM:609637] synonym: "HPE5" EXACT [DOID:0110878, MONDO:Lexical, OMIM:609637] +synonym: "ZIC2 holoprosencephaly" EXACT [MONDO:design_pattern] xref: DOID:0110878 {source="MONDO:equivalentTo"} xref: MESH:C566464 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C75460 {source="MONDO:kboom-pr-1.00/0.91/28.16", source="MONDO:equivalentTo"} xref: OMIM:609637 {source="DOID:0110878", source="MONDO:equivalentTo"} xref: Orphanet:2162 {source="OMIM:609637", source="MONDO:subClassOf"} xref: UMLS:C1864827 {source="NCBI:mim2gene_medline", source="OMIM:609637", source="NCIT:C75460", source="MONDO:equivalentTo"} -is_a: MONDO:0016296 {source="MESH:C566464", source="MONDO:Redundant", source="NCIT:C75460", source="OMIM:609637"} ! holoprosencephaly +is_a: MONDO:0016296 {source="DOID:0110878", source="MESH:C566464", source="MONDO:Redundant", source="NCIT:C75460", source="OMIM:609637"} ! holoprosencephaly is_a: MONDO:0016355 ! Semilobar holoprosencephaly is_a: MONDO:0017218 ! septopreoptic holoprosencephaly is_a: MONDO:0017219 ! microform holoprosencephaly @@ -240089,11 +242772,13 @@ id: MONDO:0012326 name: autosomal recessive nonsyndromic deafness 42 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ILDR1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 42" EXACT [DOID:0110500] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ILDR1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 42" EXACT [DOID:0110500, MONDORULE:2] synonym: "deafness, autosomal recessive 42" RELATED [MONDO:Lexical, OMIM:609646] synonym: "deafness, autosomal recessive 42; DFNB42" RELATED [OMIM:609646] synonym: "deafness, autosomal recessive type 42" EXACT [MONDORULE:2, OMIM:609646] synonym: "DFNB42" EXACT [DOID:0110500, MONDO:Lexical, OMIM:609646] +synonym: "ILDR1 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110500 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110500"} xref: MESH:C566460 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -240191,7 +242876,9 @@ id: MONDO:0012333 name: autosomal recessive nonsyndromic deafness 53 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the COL11A2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 53" EXACT [DOID:0110509] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in COL11A2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 53" EXACT [DOID:0110509, MONDORULE:2] +synonym: "COL11A2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal recessive 53" RELATED [MONDO:Lexical, OMIM:609706] synonym: "deafness, autosomal recessive 53; DFNB53" RELATED [OMIM:609706] synonym: "deafness, autosomal recessive type 53" EXACT [MONDORULE:2, OMIM:609706] @@ -240226,7 +242913,7 @@ xref: OMIM:609727 {source="Orphanet:101009", source="DOID:0110780", source="ORDO xref: Orphanet:101009 {source="DOID:0110780", source="OMIM:609727", source="MONDO:equivalentTo"} xref: UMLS:C1857855 {source="Orphanet:101009", source="NCBI:mim2gene_medline", source="OMIM:609727", source="MEDGEN:kboom-pr98-c99", source="ORDO:101009/e", source="MONDO:equivalentTo"} is_a: MONDO:0015087 {source="Orphanet:101009"} ! autosomal dominant complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:609727", source="Orphanet:101009/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110780", source="MESH:C536863", source="MONDO:Redundant", source="OMIM:609727", source="Orphanet:101009/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.61111111111111" xsd:double [Term] @@ -240262,7 +242949,9 @@ synonym: "cataract 22, multiple types" RELATED [MONDO:Lexical, OMIM:609741] synonym: "cataract 22, multiple types; CTRCT22" RELATED [OMIM:609741] synonym: "cataract, congenital nuclear, autosomal recessive 2" RELATED [OMIM:609741] synonym: "CATCN2" NARROW [DOID:0110268] +synonym: "CRYBB3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] synonym: "CTRCT22" EXACT [DOID:0110268, MONDO:Lexical, OMIM:609741] +synonym: "early-onset non-syndromic cataract caused by mutation in CRYBB3" EXACT [MONDO:design_pattern] xref: DOID:0110268 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110268"} xref: MESH:C565725 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -240271,7 +242960,7 @@ xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:609741"} xref: Orphanet:98988 {source="MONDO:subClassOf", source="OMIM:609741", source="MONDO:relatedTo"} xref: Orphanet:98991 {source="MONDO:subClassOf", source="OMIM:609741", source="MONDO:relatedTo"} xref: UMLS:C1857853 {source="NCBI:mim2gene_medline", source="OMIM:609741", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C565725", source="MONDO:Redundant", source="OMIM:609741"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110268", source="MESH:C565725", source="MONDO:Redundant", source="OMIM:609741"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2400 ! CRYBB3 @@ -240288,7 +242977,7 @@ xref: MESH:C565724 {source="MONDO:equivalentTo"} xref: OMIM:609745 {source="MONDO:equivalentTo"} xref: UMLS:C1857852 {source="NCBI:mim2gene_medline", source="OMIM:609745", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="MONDO:Redundant"} ! inherited genetic disease -is_a: MONDO:0005338 ! open-angle glaucoma +is_a: MONDO:0005338 {source="MESH:C565724"} ! open-angle glaucoma property_value: confidence "0.6519518666964457" xsd:double [Term] @@ -240307,11 +242996,13 @@ is_a: MONDO:0005579 {source="DC-OMIM:609750"} ! generalised epilepsy id: MONDO:0012339 name: celiac disease, susceptibility to, 4 def: "Any celiac disease in which the cause of the disease is a mutation in the MYO9B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "celiac disease caused by mutation in MYO9B" EXACT [MONDO:design_pattern] synonym: "celiac disease, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:609753] synonym: "celiac disease, susceptibility to, 4; CELIAC4" RELATED [OMIM:609753] synonym: "celiac disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:609753] synonym: "CELIAC4" RELATED [MONDO:Lexical, OMIM:609753] synonym: "gluten-sensitive enteropathy, susceptibility to, 4" RELATED [OMIM:609753] +synonym: "MYO9B celiac disease" EXACT [MONDO:design_pattern] synonym: "susceptibility to celiac disease 4" RELATED [OMIM:609753] xref: OMIM:609753 {source="MONDO:equivalentTo"} xref: Orphanet:555 {source="OMIM:609753"} @@ -240338,10 +243029,12 @@ is_a: MONDO:0005130 {source="DC-OMIM:609754", source="OMIM:609754"} ! celiac dis id: MONDO:0012341 name: celiac disease, susceptibility to, 3 def: "Any celiac disease in which the cause of the disease is a mutation in the CTLA4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "celiac disease caused by mutation in CTLA4" EXACT [MONDO:design_pattern] synonym: "celiac disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:609755] synonym: "celiac disease, susceptibility to, 3; CELIAC3" RELATED [OMIM:609755] synonym: "celiac disease, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:609755] synonym: "CELIAC3" RELATED [MONDO:Lexical, OMIM:609755] +synonym: "CTLA4 celiac disease" EXACT [MONDO:design_pattern] synonym: "gluten-sensitive enteropathy, susceptibility to, 3" RELATED [OMIM:609755] synonym: "susceptibility to celiac disease 3" RELATED [OMIM:609755] xref: OMIM:609755 {source="MONDO:equivalentTo"} @@ -240572,9 +243265,11 @@ id: MONDO:0012353 name: erythrocytosis, familial, 3 def: "Any familial polycythemia in which the cause of the disease is a mutation in the EGLN1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ECYT3" RELATED [MONDO:Lexical, OMIM:609820] +synonym: "EGLN1 familial polycythemia" EXACT [MONDO:design_pattern] synonym: "erythrocytosis, familial, 3" EXACT [MONDO:Lexical, OMIM:609820] synonym: "erythrocytosis, familial, 3; ECYT3" RELATED [OMIM:609820] synonym: "erythrocytosis, familial, type 3" EXACT [MONDORULE:1, OMIM:609820] +synonym: "familial polycythemia caused by mutation in EGLN1" EXACT [MONDO:design_pattern] xref: MESH:C565221 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:609820 {source="MONDO:equivalentTo"} xref: Orphanet:247511 {source="OMIM:609820", source="MONDO:subClassOf"} @@ -240618,11 +243313,13 @@ id: MONDO:0012355 name: autosomal recessive nonsyndromic deafness 28 def: "An autosomal recessive disorder caused by mutations in the TRIOBP gene, encoding TRIO and F-actin-binding protein. The condition is characterized by severe to profound sensorineural hearing loss." [NCIT:C129023] synonym: "autosomal recessive deafness 28" EXACT [DOID:0110486] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TRIOBP" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 28" EXACT [DOID:0110486, MONDORULE:2] synonym: "deafness, autosomal recessive 28" RELATED [MONDO:Lexical, OMIM:609823] synonym: "deafness, autosomal recessive 28; DFNB28" RELATED [OMIM:609823] synonym: "deafness, autosomal recessive type 28" EXACT [MONDORULE:2, OMIM:609823] synonym: "DFNB28" EXACT [DOID:0110486, MONDO:Lexical, OMIM:609823] +synonym: "TRIOBP autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110486 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110486"} xref: MESH:C565218 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -240654,6 +243351,8 @@ synonym: "glaucoma 1, open angle, G" EXACT [MONDO:Lexical, OMIM:609887] synonym: "glaucoma 1, open angle, G; GLC1G" RELATED [OMIM:609887] synonym: "glaucoma 1, open angle, type G" EXACT [MONDORULE:1, OMIM:609887] synonym: "GLC1G" RELATED [MONDO:Lexical, OMIM:609887] +synonym: "open-angle glaucoma caused by mutation in WDR36" EXACT [MONDO:design_pattern] +synonym: "WDR36 open-angle glaucoma" EXACT [MONDO:design_pattern] xref: MESH:C563692 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:609887 {source="MONDO:equivalentTo"} xref: UMLS:C1835933 {source="NCBI:mim2gene_medline", source="OMIM:609887", source="MONDO:equivalentTo"} @@ -240712,7 +243411,7 @@ xref: OMIM:609893 {source="DOID:0070127", source="MONDO:equivalentTo"} xref: Orphanet:97927 {source="MONDO:subClassOf", source="OMIM:609893"} xref: UMLS:C2940785 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:609893"} is_a: MONDO:0000045 {source="DC-OMIM:609893", source="OMIM:609893"} ! hypothyroidism, congenital, nongoitrous -is_a: MONDO:0018612 {source="DOID:0070127"} ! congenital hypothyroidism +is_a: MONDO:0018612 {source="DOID:0070127", source="MESH:C567935"} ! congenital hypothyroidism is_a: MONDO:0019995 {source="ORDO:97927/btnt"} ! peripheral resistance to thyroid hormones property_value: confidence "29.33333333333344" xsd:double @@ -240736,6 +243435,8 @@ synonym: "cardiomyopathy, dilated, 1P; CMD1P" RELATED [OMIM:609909] synonym: "cardiomyopathy, dilated, type 1P" EXACT [MONDORULE:4, OMIM:609909] synonym: "CMD1P" EXACT [DOID:0110439, MONDO:Lexical, OMIM:609909] synonym: "dilated cardiomyopathy type 1P" EXACT [DOID:0110439, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in PLN" EXACT [MONDO:design_pattern] +synonym: "PLN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110439 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110439"} xref: MESH:C563690 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -240817,9 +243518,11 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:0010396"} synonym: "retinitis pigmentosa 31" EXACT [MONDO:Lexical, OMIM:609923] synonym: "retinitis pigmentosa 31; RP31" RELATED [OMIM:609923] +synonym: "retinitis pigmentosa caused by mutation in TOPORS" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 31" EXACT [DOID:0110391, MONDORULE:2, OMIM:609923] synonym: "RP 31" RELATED [GARD:0010396] synonym: "RP31" EXACT [DOID:0110391, MONDO:Lexical, OMIM:609923] +synonym: "TOPORS retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110391 {source="MONDO:equivalentTo"} xref: GARD:0010396 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110391", source="MONDO:relatedTo"} @@ -240896,8 +243599,10 @@ name: Noonan syndrome 3 def: "Noonan syndrome is a genetic disorder that causes abnormal development of multiple parts of the body. Features of Noonan syndrome may include a distinctive facial appearance, short stature, a broad or webbed neck, congenital heart defects , bleeding problems, problems with bone structure (skeletal malformations), and developmental delay. Noonan syndrome may be caused by a mutation in any of several genes , andcan be classified into subtypes based on the responsible gene. It is typically inherited in an autosomal dominant manner, but many cases are due to a new mutation and are not inherited from either parent. Treatment depends on the symptoms present in each person. Noonan syndrome belongs to a group of related conditions called the RASopathies . These conditions have some overlapping features and are all caused by genetic changes that disrupt the body's RAS pathway, affecting growth and development. Other conditions in this group include: neurofibromatosis type 1 LEOPARD syndrome , also called Noonan syndrome with multiple lentigines Costello syndrome cardiofaciocutaneous syndrome Legius syndrome capillary malformation–arteriovenous malformation syndrome" [https://rarediseases.info.nih.gov/diseases/9885/noonan-syndrome-3] subset: gard_rare {source="GARD:0009885"} synonym: "kras gene related Noonan syndrome" RELATED [GARD:0009885] +synonym: "KRAS Noonan syndrome" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome 3" EXACT [MONDO:Lexical, OMIM:609942] synonym: "Noonan syndrome 3; NS3" RELATED [OMIM:609942] +synonym: "Noonan syndrome caused by mutation in KRAS" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome type 3" EXACT [DOID:0060581, MONDORULE:1, OMIM:609942] synonym: "NS3" EXACT [DOID:0060581, MONDO:Lexical, OMIM:609942] xref: DOID:0060581 {source="MONDO:equivalentTo"} @@ -241186,7 +243891,7 @@ synonym: "MYP11" EXACT [MONDO:Lexical, OMIM:609994] xref: MESH:C566490 {source="MONDO:equivalentTo"} xref: OMIM:609994 {source="MONDO:equivalentTo"} xref: UMLS:C1864941 {source="NCBI:mim2gene_medline", source="OMIM:609994", source="MONDO:equivalentTo"} -is_a: MONDO:0001384 {source="DC-OMIM:609994", source="OMIM:609994"} ! myopia (disease) +is_a: MONDO:0001384 {source="DC-OMIM:609994", source="MESH:C566490", source="OMIM:609994"} ! myopia (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -241198,7 +243903,7 @@ synonym: "MYP12" EXACT [MONDO:Lexical, OMIM:609995] xref: MESH:C566489 {source="MONDO:equivalentTo"} xref: OMIM:609995 {source="MONDO:equivalentTo"} xref: UMLS:C1864940 {source="NCBI:mim2gene_medline", source="OMIM:609995", source="MONDO:equivalentTo"} -is_a: MONDO:0001384 {source="DC-OMIM:609995", source="OMIM:609995"} ! myopia (disease) +is_a: MONDO:0001384 {source="DC-OMIM:609995", source="MESH:C566489", source="OMIM:609995"} ! myopia (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -241313,8 +244018,10 @@ id: MONDO:0012394 name: multiple synostoses syndrome 2 def: "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0009916"} +synonym: "GDF5 multiple synostoses syndrome" EXACT [MONDO:design_pattern] synonym: "multiple synostoses syndrome 2" EXACT [MONDO:Lexical, OMIM:610017] synonym: "multiple synostoses syndrome 2; SYNS2" RELATED [OMIM:610017] +synonym: "multiple synostoses syndrome caused by mutation in GDF5" EXACT [MONDO:design_pattern] synonym: "multiple synostoses syndrome type 2" EXACT [MONDORULE:1, OMIM:610017] synonym: "SYNS2" RELATED [MONDO:Lexical, OMIM:610017] xref: GARD:0009916 {source="MONDO:equivalentTo"} @@ -241349,7 +244056,7 @@ xref: OMIM:610019 {source="DOID:0110238", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="OMIM:610019", source="MONDO:subClassOf"} xref: Orphanet:98991 {source="OMIM:610019", source="MONDO:subClassOf"} xref: UMLS:C1864908 {source="NCBI:mim2gene_medline", source="OMIM:610019"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C535337", source="MONDO:Redundant", source="OMIM:610019"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110238", source="MESH:C535337", source="MONDO:Redundant", source="OMIM:610019"} ! cataract (disease) is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract is_a: MONDO:0020376 {source="ORDO:98991/btnt"} ! early-onset nuclear cataract is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt"} ! early-onset partial cataract @@ -241385,7 +244092,7 @@ xref: Orphanet:165991 {source="OMIM:610021", source="MONDO:equivalentTo"} xref: SCTID:715830008 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1864902 {source="OMIM:610021", source="NCBI:mim2gene_medline", source="Orphanet:165991", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} xref: UMLS:C1864904 {source="MEDGEN:kboom-pr96-c96", source="MONDO:equivalentTo"} -is_a: MONDO:0001933 {source="NCIT:C131839"} ! endocrine pancreas disease +is_a: MONDO:0001933 {source="NCIT:C131839", source="linkedlifedata/inferred"} ! endocrine pancreas disease is_a: MONDO:0005803 {source="DC-OMIM:610021"} ! hyperinsulinemic hypoglycemia (disease) is_a: MONDO:0015624 {source="Orphanet:165991"} ! diazoxide-sensitive diffuse hyperinsulinism is_a: MONDO:0017706 {source="Orphanet:165991"} ! disorder of carbohydrate absorption and transport @@ -241430,6 +244137,7 @@ name: complex cortical dysplasia with other brain malformations 7 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2B gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_malformation_syndrome {source="Orphanet:300573"} synonym: "CDCBM7" EXACT [DOID:0090132] +synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2B" EXACT [MONDO:design_pattern] synonym: "complex cortical dysplasia with other brain malformations type 7" EXACT [DOID:0090132, MONDORULE:1] synonym: "cortical dysplasia, Complex, with Other brain malformations 7" RELATED [OMIM:610031] synonym: "cortical dysplasia, COMPLEX, with OTHER brain malformations 7; CDCBM7" RELATED [OMIM:610031] @@ -241437,6 +244145,7 @@ synonym: "PMGYSA" RELATED [MONDO:Lexical, OMIM:610031] synonym: "polymicrogyria due to TUBB2B mutation" EXACT [DOID:0090132] synonym: "polymicrogyria, symmetric or asymmetric" RELATED [MONDO:Lexical, OMIM:610031] synonym: "polymicrogyria, symmetric or asymmetric; PMGYSA" RELATED [OMIM:610031] +synonym: "TUBB2B complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern] xref: DOID:0090132 {source="MONDO:equivalentTo"} xref: GARD:10783 {source="DOID:0090132"} xref: ICD10:Q04.3 {source="DOID:0090132", source="ORDO:300573/ntbt", source="ORDO:300573/attributed", source="Orphanet:300573"} @@ -241544,6 +244253,8 @@ is_a: MONDO:0007915 {source="DC-OMIM:610066", source="MONDOLEX:0012404"} ! syste id: MONDO:0012405 name: polyposis syndrome, hereditary mixed, 2 def: "Any hereditary mixed polyposis syndrome in which the cause of the disease is a mutation in the BMPR1A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BMPR1A hereditary mixed polyposis syndrome" EXACT [MONDO:design_pattern] +synonym: "hereditary mixed polyposis syndrome caused by mutation in BMPR1A" EXACT [MONDO:design_pattern] synonym: "HMPS2" RELATED [MONDO:Lexical, OMIM:610069] synonym: "polyposis syndrome, hereditary mixed, 2" EXACT [MONDO:Lexical, OMIM:610069] synonym: "polyposis syndrome, hereditary mixed, 2; HMPS2" RELATED [OMIM:610069] @@ -241569,7 +244280,7 @@ xref: MESH:C566450 {source="MONDO:equivalentTo"} xref: OMIM:610071 {source="MONDO:equivalentTo"} xref: Orphanet:99879 {source="OMIM:610071", source="MONDO:subClassOf"} xref: UMLS:C1864729 {source="NCBI:mim2gene_medline", source="OMIM:610071", source="MONDO:equivalentTo"} -is_a: MONDO:0001741 {source="MONDO:Redundant", source="OMIM:610071"} ! hyperparathyroidism +is_a: MONDO:0001741 {source="MESH:C566450/inferred", source="MONDO:Redundant", source="OMIM:610071"} ! hyperparathyroidism is_a: MONDO:0015027 {source="ORDO:99879/btnt"} ! familial isolated hyperparathyroidism property_value: confidence "0.2656249999999998" xsd:double @@ -241618,7 +244329,9 @@ synonym: "microphthalmia, cataracts, and iris abnormalities" RELATED [OMIM:61009 synonym: "microphthalmia, colobomatous, isolated 3" RELATED [OMIM:610092] synonym: "microphthalmia, isolated, with coloboma 3" EXACT [MONDO:Lexical, OMIM:610092] synonym: "microphthalmia, isolated, with coloboma 3; MCOPCB3" RELATED [OMIM:610092] +synonym: "microphthalmia, isolated, with coloboma caused by mutation in VSX2" EXACT [MONDO:design_pattern] synonym: "microphthalmia, isolated, with coloboma type 3" EXACT [MONDORULE:1, OMIM:610092] +synonym: "VSX2 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern] xref: OMIM:610092 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="MONDO:subClassOf", source="OMIM:610092"} xref: UMLS:C1864721 {source="NCBI:mim2gene_medline", source="OMIM:610092", source="MONDO:equivalentTo"} @@ -241635,11 +244348,13 @@ id: MONDO:0012409 name: isolated microphthalmia 2 def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the VSX2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "anophthalmia, clinical, isolated" RELATED [OMIM:610093] +synonym: "isolated microphthalmia caused by mutation in VSX2" EXACT [MONDO:design_pattern] synonym: "isolated microphthalmia type 2" EXACT [DOID:0060839, MONDORULE:1] synonym: "MCOP2" EXACT [DOID:0060839, MONDO:Lexical, OMIM:610093] synonym: "microphthalmia, isolated 2" RELATED [MONDO:Lexical, OMIM:610093] synonym: "microphthalmia, isolated 2; MCOP2" RELATED [OMIM:610093] synonym: "microphthalmia, isolated type 2" EXACT [MONDORULE:1, OMIM:610093] +synonym: "VSX2 isolated microphthalmia" EXACT [MONDO:design_pattern] xref: DOID:0060839 {source="MONDO:equivalentTo"} xref: ICD10:Q11.0 {source="DOID:0060839"} xref: MESH:C566446 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -241678,9 +244393,11 @@ subset: ordo_disease {source="Orphanet:401964"} synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons" RELATED [Orphanet:401964] synonym: "autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons" EXACT [Orphanet:401964] synonym: "CMT2 with giant axons" EXACT [Orphanet:401964] +synonym: "DCAF8 giant axonal neuropathy" EXACT [MONDO:design_pattern] synonym: "GAN2" RELATED [MONDO:Lexical, OMIM:610100] synonym: "giant axonal neuropathy 2, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610100] synonym: "giant axonal neuropathy 2, autosomal dominant; GAN2" RELATED [OMIM:610100] +synonym: "giant axonal neuropathy caused by mutation in DCAF8" EXACT [MONDO:design_pattern] synonym: "giant axonal neuropathy type 2" EXACT [DOID:0090069, MONDORULE:1] synonym: "HMSN2 with giant axons" EXACT [Orphanet:401964] xref: DOID:0090069 {source="MONDO:equivalentTo"} @@ -241701,8 +244418,10 @@ property_value: confidence "2.25" xsd:double id: MONDO:0012412 name: complement component 7 deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C7 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "C7 classic complement early component deficiency" EXACT [MONDO:design_pattern] synonym: "C7 deficiency" RELATED [OMIM:610102] synonym: "C7D" RELATED [MONDO:Lexical, OMIM:610102] +synonym: "classic complement early component deficiency caused by mutation in C7" EXACT [MONDO:design_pattern] synonym: "complement component 7 deficiency" EXACT [MONDO:Lexical, OMIM:610102] synonym: "complement component 7 deficiency; C7D" RELATED [OMIM:610102] xref: DOID:0060300 {source="MONDO:equivalentTo"} @@ -241729,8 +244448,10 @@ synonym: "microphthalmia syndromic 5" RELATED [GARD:0003692] synonym: "microphthalmia, syndromic 5" RELATED [MONDO:Lexical, OMIM:610125] synonym: "microphthalmia, syndromic 5; MCOPS5" RELATED [OMIM:610125] synonym: "microphthalmia, syndromic type 5" EXACT [MONDORULE:1, OMIM:610125] +synonym: "OTX2 syndromic microphthalmia" EXACT [MONDO:design_pattern] synonym: "OTX2-related eye disorders" RELATED [GARD:0003692] synonym: "retinal dystrophy, early-onset, with or without pituitary dysfunction" RELATED [OMIM:610125] +synonym: "syndromic microphthalmia caused by mutation in OTX2" EXACT [MONDO:design_pattern] synonym: "syndromic microphthalmia/anophthalmia due to OTX2 mutation" EXACT [Orphanet:178364] xref: GARD:0003692 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:Q11.2 {source="ORDO:178364/attributed", source="ORDO:178364/ntbt", source="Orphanet:178364"} @@ -241765,7 +244486,9 @@ synonym: "CLN10 disease, adult (subtype)" RELATED [GARD:0001218] synonym: "CLN10 disease, congenital (subtype)" RELATED [GARD:0001218] synonym: "CLN10 disease, juvenile (subtype)" RELATED [GARD:0001218] synonym: "CLN10 disease, late infantile (subtype)" RELATED [GARD:0001218] +synonym: "CTSD neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis cathepsin D-deficient" EXACT [DOID:0110725] +synonym: "neuronal ceroid lipofuscinosis caused by mutation in CTSD" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis due to Cathepsin D deficiency" RELATED [OMIM:610127] synonym: "neuronal ceroid lipofuscinosis due to cathepsin D deficiency" EXACT [DOID:0110725] synonym: "neuronal ceroid lipofuscinosis type 10" EXACT [DOID:0110725, MONDORULE:2] @@ -241785,7 +244508,7 @@ xref: UMLS:C1864669 {source="NCBI:mim2gene_medline", source="OMIM:610127", sourc xref: UMLS:C1864670 {source="OMIM:610127"} is_a: MONDO:0008956 {source="ORDO:168486/btnt", source="Orphanet:228337"} ! congenital neuronal ceroid lipofuscinosis is_a: MONDO:0015674 {source="ORDO:168491/btnt", source="Orphanet:228337"} ! late infantile neuronal ceroid lipofuscinosis -is_a: MONDO:0016295 {source="MONDO:Redundant", source="MONDO:cjm", source="OMIM:610127", source="Orphanet:228337/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID:0110725", source="MONDO:Redundant", source="MONDO:cjm", source="OMIM:610127", source="Orphanet:228337/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0019260 {source="ORDO:79262/btnt", source="Orphanet:228337"} ! adult neuronal ceroid lipofuscinosis is_a: MONDO:0019262 {source="ORDO:79264/btnt", source="Orphanet:228337"} ! juvenile neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis @@ -241799,6 +244522,8 @@ id: MONDO:0012415 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the POLG2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "PEOA4" RELATED [MONDO:Lexical, OMIM:610131] +synonym: "POLG2 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in POLG2" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4" EXACT [MONDO:Lexical, OMIM:610131] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4; PEOA4" RELATED [OMIM:610131] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 4" EXACT [MONDORULE:1, OMIM:610131] @@ -241870,9 +244595,11 @@ id: MONDO:0012419 name: age related macular degeneration 7 def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the HTRA1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "age related macular degeneration type 7" EXACT [DOID:0110019, MONDORULE:1] +synonym: "age-related macular degeneration caused by mutation in HTRA1" EXACT [MONDO:design_pattern] synonym: "ARMD7" EXACT [DOID:0110019, MONDO:Lexical, OMIM:610149] synonym: "HtrA" EXACT [Orphanet:138706] synonym: "HtrA serine peptidase 1" RELATED [Orphanet:138706] +synonym: "HTRA1 age-related macular degeneration" EXACT [MONDO:design_pattern] synonym: "IGFBP5-protease" EXACT [Orphanet:138706] synonym: "macular DEGENERATION, AGE-RELATED, 7" RELATED [MONDO:Lexical, OMIM:610149] synonym: "macular DEGENERATION, AGE-RELATED, 7; ARMD7" RELATED [OMIM:610149] @@ -241898,11 +244625,13 @@ id: MONDO:0012420 name: autosomal recessive nonsyndromic deafness 49 def: "An autosomal recessive disorder caused by mutations in the MARVELD2 gene, encoding MARVEL domain-containing protein 2. The condition is characterized by profound prelingual deafness." [NCIT:C129024] synonym: "autosomal recessive deafness 49" EXACT [DOID:0110506] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MARVELD2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 49" EXACT [DOID:0110506, MONDORULE:2] synonym: "deafness, autosomal recessive 49" RELATED [MONDO:Lexical, OMIM:610153] synonym: "deafness, autosomal recessive 49; DFNB49" RELATED [OMIM:610153] synonym: "deafness, autosomal recessive type 49" EXACT [MONDORULE:2, OMIM:610153] synonym: "DFNB49" EXACT [DOID:0110506, MONDO:Lexical, OMIM:610153] +synonym: "MARVELD2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110506 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110506"} xref: MESH:C565717 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -241918,7 +244647,9 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26 id: MONDO:0012421 name: autosomal recessive nonsyndromic deafness 44 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ADCY1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ADCY1 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "autosomal recessive deafness 44" EXACT [DOID:0110501] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ADCY1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 44" EXACT [DOID:0110501, MONDORULE:2] synonym: "deafness, autosomal recessive 44" RELATED [MONDO:Lexical, OMIM:610154] synonym: "deafness, autosomal recessive 44; DFNB44" RELATED [OMIM:610154] @@ -241975,9 +244706,9 @@ xref: OMIM:610156 {source="Orphanet:75858", source="ORDO:75858/e", source="MONDO xref: Orphanet:75858 {source="OMIM:610156", source="MONDO:equivalentTo"} xref: SCTID:715628009 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C1857802 {source="Orphanet:75858", source="OMIM:610156", source="NCBI:mim2gene_medline", source="ORDO:75858/e", source="MONDO:equivalentTo"} -is_a: MONDO:0004589 {source="OWLReasoner:2017", source="linkedlifedata"} ! hereditary retinal dystrophy +is_a: MONDO:0004589 {source="linkedlifedata"} ! obsolete hereditary retinal dystrophy is_a: MONDO:0016565 {source="Orphanet:75858"} ! syndromic obesity -is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:75858", source="linkedlifedata"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:75858", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21474 {source="mim2gene_medgen"} ! INPP5E property_value: confidence "3.666666666666667" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10121/morm-syndrome xsd:anyURI {source="GARD:0010121"} @@ -242036,10 +244767,12 @@ synonym: "aortic aneurysm, familial thoracic 3" RELATED [OMIM:610168] synonym: "LDS2" RELATED [MONDO:Lexical, OMIM:610168] synonym: "Loeys-Dietz syndrome 2" EXACT [MONDO:Lexical, OMIM:610168] synonym: "Loeys-Dietz syndrome 2; LDS2" RELATED [OMIM:610168] +synonym: "Loeys-Dietz syndrome caused by mutation in TGFBR2" EXACT [MONDO:design_pattern] synonym: "Loeys-Dietz syndrome type 2" EXACT [MONDORULE:1, OMIM:610168] synonym: "Loeys-Dietz syndrome type II" EXACT [NCIT:C114768] synonym: "Marfan syndrome, type II" RELATED [OMIM:610168] synonym: "Marfan syndrome, type II, formerly" RELATED [OMIM:610168] +synonym: "TGFBR2 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern] xref: GARD:0010586 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: MESH:C537783 {source="MONDO:equivalentTo"} xref: NCIT:C114768 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.08"} @@ -242051,7 +244784,7 @@ xref: Orphanet:91387 {source="OMIM:610168", source="MONDO:relatedTo", source="MO xref: UMLS:C2674574 {source="OMIM:610168"} xref: UMLS:C2674876 {source="NCBI:mim2gene_medline"} xref: UMLS:C3898580 {source="NCIT:C114768"} -is_a: MONDO:0018954 {source="DC-OMIM:610168", source="MONDOLEX:0012427", source="NCIT:C114768", source="OMIM:610168", source="OMIM:610168/inferred"} ! Loeys-Dietz syndrome +is_a: MONDO:0018954 {source="DC-OMIM:610168", source="MESH:C537783", source="MONDOLEX:0012427", source="NCIT:C114768", source="OMIM:610168", source="OMIM:610168/inferred"} ! Loeys-Dietz syndrome intersection_of: MONDO:0018954 ! Loeys-Dietz syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11773 ! TGFBR2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11773 {source="mim2gene_medgen"} ! TGFBR2 @@ -242075,7 +244808,9 @@ def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a muta synonym: "AGS2" RELATED [MONDO:Lexical, OMIM:610181] synonym: "Aicardi-Goutieres syndrome 2" EXACT [MONDO:Lexical, OMIM:610181] synonym: "Aicardi-Goutieres syndrome 2; AGS2" RELATED [OMIM:610181] +synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2B" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 2" EXACT [MONDORULE:1, OMIM:610181] +synonym: "RNASEH2B Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern] synonym: "RNASEH2B-related Aicardi-Goutieres syndrome" RELATED [GARD:0010894] xref: GARD:0010894 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:610181 {source="MONDO:equivalentTo"} @@ -242096,6 +244831,8 @@ synonym: "cerebellar ataxia and mental retardation with or without quadrupedal l synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2" EXACT [MONDO:Lexical, OMIM:610185] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2; CAMRQ2" RELATED [OMIM:610185] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 2" EXACT [MONDORULE:1, OMIM:610185] +synonym: "dysequilibrium syndrome caused by mutation in WDR81" EXACT [MONDO:design_pattern] +synonym: "WDR81 dysequilibrium syndrome" EXACT [MONDO:design_pattern] xref: MESH:C567656 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610185 {source="MONDO:equivalentTo"} xref: Orphanet:1766 {source="MONDO:subClassOf", source="OMIM:610185"} @@ -242110,10 +244847,12 @@ property_value: confidence "1.7625263157894744" xsd:double id: MONDO:0012431 name: diaphragmatic hernia 3 def: "Any congenital diaphragmatic hernia in which the cause of the disease is a mutation in the ZFPM2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "congenital diaphragmatic hernia caused by mutation in ZFPM2" EXACT [MONDO:design_pattern] synonym: "diaphragmatic hernia 3" EXACT [MONDO:Lexical, OMIM:610187] synonym: "diaphragmatic hernia 3; DIH3" RELATED [OMIM:610187] synonym: "diaphragmatic hernia type 3" EXACT [MONDORULE:1, OMIM:610187] synonym: "DIH3" RELATED [MONDO:Lexical, OMIM:610187] +synonym: "ZFPM2 congenital diaphragmatic hernia" EXACT [MONDO:design_pattern] xref: MESH:C565710 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610187 {source="MONDO:equivalentTo"} xref: Orphanet:2140 {source="OMIM:610187", source="MONDO:subClassOf"} @@ -242129,9 +244868,11 @@ property_value: confidence "0.4741109268472452" xsd:double id: MONDO:0012432 name: Joubert syndrome 5 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CEP290 Joubert syndrome" EXACT [MONDO:design_pattern] synonym: "JBTS5" EXACT [DOID:0111000, MONDO:Lexical, OMIM:610188] synonym: "Joubert syndrome 5" EXACT [MONDO:Lexical, OMIM:610188] synonym: "Joubert syndrome 5; JBTS5" RELATED [OMIM:610188] +synonym: "Joubert syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 5" EXACT [DOID:0111000, MONDORULE:1, OMIM:610188] xref: DOID:0111000 {source="MONDO:equivalentTo"} xref: MESH:C537688 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -242149,8 +244890,10 @@ property_value: confidence "0.7367352941176466" xsd:double id: MONDO:0012433 name: Senior-Loken syndrome 6 def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CEP290 Senior-Loken syndrome" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome 6" EXACT [MONDO:Lexical, OMIM:610189] synonym: "SENIOR-Loken syndrome 6; SLSN6" RELATED [OMIM:610189] +synonym: "Senior-Loken syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome type 6" EXACT [MONDORULE:1, OMIM:610189] synonym: "SLSN6" RELATED [MONDO:Lexical, OMIM:610189] xref: MESH:C565708 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -242168,12 +244911,14 @@ name: arrhythmogenic right ventricular dysplasia 10 def: "Any arrhythmogenic right ventricular cardiomyopathy in which the cause of the disease is a mutation in the DSG2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "arrhythmogenic right ventricular cardiomyopathy 10" EXACT [DOID:0110081] synonym: "arrhythmogenic right ventricular cardiomyopathy 10" RELATED [OMIM:610193] +synonym: "arrhythmogenic right ventricular cardiomyopathy caused by mutation in DSG2" EXACT [MONDO:design_pattern] synonym: "arrhythmogenic right ventricular dysplasia type 10" EXACT [DOID:0110081, MONDORULE:2] synonym: "arrhythmogenic right ventricular dysplasia, familial, 10" RELATED [MONDO:Lexical, OMIM:610193] synonym: "arrhythmogenic right ventricular dysplasia, familial, 10; ARVD10" RELATED [OMIM:610193] synonym: "arrhythmogenic right ventricular dysplasia, familial, type 10" EXACT [MONDORULE:2, OMIM:610193] synonym: "ARVC10" EXACT [DOID:0110081] synonym: "ARVD10" EXACT [DOID:0110081, MONDO:Lexical, OMIM:610193] +synonym: "DSG2 arrhythmogenic right ventricular cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "familial arrhythmogenic right ventricular dysplasia 10" EXACT [DOID:0110081] xref: DOID:0110081 {source="MONDO:equivalentTo"} xref: ICD10:I42.8 {source="DOID:0110081"} @@ -242181,7 +244926,7 @@ xref: MESH:C565707 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610193 {source="DOID:0110081", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="MONDO:subClassOf", source="OMIM:610193"} xref: UMLS:C1857777 {source="NCBI:mim2gene_medline", source="OMIM:610193", source="MONDO:equivalentTo"} -is_a: MONDO:0016587 {source="MESH:C565707", source="MONDO:Redundant", source="OMIM:610193"} ! arrhythmogenic right ventricular cardiomyopathy +is_a: MONDO:0016587 {source="DOID:0110081", source="MESH:C565707", source="MONDO:Redundant", source="OMIM:610193"} ! arrhythmogenic right ventricular cardiomyopathy is_a: MONDO:0017401 ! familial isolated arrhythmogenic ventricular dysplasia, left dominant form is_a: MONDO:0017402 ! familial isolated arrhythmogenic ventricular dysplasia, biventricular form is_a: MONDO:0017403 ! familial isolated arrhythmogenic ventricular dysplasia, right dominant form @@ -242198,6 +244943,7 @@ subset: gard_rare subset: ordo_disease {source="Orphanet:66634"} synonym: "3 alpha methylglutaconic aciduria type V" RELATED [GARD:0010344] synonym: "3 methylglutaconic aciduria type V" RELATED [GARD:0010344] +synonym: "3-methylglutaconic aciduria caused by mutation in DNAJC19" EXACT [MONDO:design_pattern] synonym: "3-methylglutaconic aciduria type 5" EXACT [Orphanet:66634] synonym: "3-methylglutaconic aciduria type V" EXACT [DOID:0110000] synonym: "3-Methylglutaconic aciduria, type 5" RELATED [OMIM:610198] @@ -242207,6 +244953,7 @@ synonym: "cardiomyopathy, dilated, with ataxia" RELATED [OMIM:610198] synonym: "DCMA" EXACT [DOID:0110000] synonym: "DCMA syndrome" EXACT [DOID:0110000, Orphanet:66634] synonym: "dilated cardiomyopathy with ataxia" EXACT [DOID:0110000] +synonym: "DNAJC19 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern] synonym: "MGA 5" RELATED [GARD:0010344] synonym: "MGA V" RELATED [GARD:0010344] synonym: "Mga, type 5" RELATED [OMIM:610198] @@ -242264,6 +245011,8 @@ synonym: "cataract, pulverulent, juvenile-onset" RELATED [OMIM:610202] synonym: "CCA4" NARROW [DOID:0110256] synonym: "congenital cataract cerulean type 4" NARROW [DOID:0110256] synonym: "CTRCT21" EXACT [DOID:0110256, MONDO:Lexical, OMIM:610202] +synonym: "early-onset non-syndromic cataract caused by mutation in MAF" EXACT [MONDO:design_pattern] +synonym: "MAF early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] xref: DOID:0110256 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110256"} xref: MESH:C565703 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -242273,7 +245022,7 @@ xref: Orphanet:91492 {source="OMIM:610202", source="MONDO:subClassOf"} xref: Orphanet:98984 {source="OMIM:610202", source="MONDO:directSiblingOf", source="MONDO:subClassOf"} xref: Orphanet:98989 {source="OMIM:610202", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C1857768 {source="NCBI:mim2gene_medline", source="OMIM:610202"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C565703", source="MONDO:Redundant", source="OMIM:610202"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110256", source="MESH:C565703", source="MONDO:Redundant", source="OMIM:610202"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6776 ! MAF @@ -242300,7 +245049,7 @@ xref: OMIM:610204 {source="DOID:0060274", source="Orphanet:166068", source="MOND xref: Orphanet:166068 {source="DOID:0060274", source="OMIM:610204", source="MONDO:equivalentTo"} xref: SCTID:718607001 {source="MONDO:kboom-pr-1.00/0.80/10.13", source="MONDO:equivalentTo"} xref: UMLS:C1857762 {source="NCBI:mim2gene_medline", source="DOID:0060274", source="OMIM:610204", source="Orphanet:166068", source="MONDO:equivalentTo"} -is_a: MONDO:0020135 {source="DC-OMIM:610204", source="DOID:0060274", source="OMIM:610204", source="Orphanet:166068"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DC-OMIM:610204", source="DOID:0060274", source="OMIM:610204", source="Orphanet:166068", source="linkedlifedata"} ! non-syndromic pontocerebellar hypoplasia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/27561 {source="mim2gene_medgen"} ! TSEN54 property_value: confidence "249.00000000000298" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10709/pontocerebellar-hypoplasia-type-5 xsd:anyURI {source="GARD:0010709"} @@ -242354,7 +245103,9 @@ id: MONDO:0012442 name: autosomal recessive nonsyndromic deafness 66 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the DCDC2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 66" EXACT [DOID:0110517] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in DCDC2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 66" EXACT [DOID:0110517, MONDORULE:2] +synonym: "DCDC2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal recessive 66" RELATED [MONDO:Lexical, OMIM:610212] synonym: "deafness, autosomal recessive 66; DFNB66" RELATED [OMIM:610212] synonym: "deafness, autosomal recessive type 66" EXACT [MONDORULE:2, OMIM:610212] @@ -242405,20 +245156,22 @@ xref: Orphanet:35069 {source="OMIM:610217", source="MONDO:subClassOf"} xref: UMLS:C1857747 {source="NCBI:mim2gene_medline", source="OMIM:610217"} xref: UMLS:C2750220 {source="OMIM:610217"} is_a: MONDO:0009739 {source="ORDO:35069/btnt"} ! infantile neuroaxonal dystrophy -is_a: MONDO:0018307 {source="MONDO:Redundant", source="OMIM:610217"} ! neurodegeneration with brain iron accumulation +is_a: MONDO:0018307 {source="DOID:0110736", source="MONDO:Redundant", source="OMIM:610217"} ! neurodegeneration with brain iron accumulation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9039 {source="mim2gene_medgen"} ! PLA2G6 -property_value: confidence "2.069473684210527 TODO - check genes" xsd:double [Term] id: MONDO:0012445 name: autosomal recessive nonsyndromic deafness 59 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PJVK gene." [MONDO:patterns/disease_series_by_gene] +comment: Editor note: TODO check genes synonym: "autosomal recessive deafness 59" EXACT [DOID:0110511] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PJVK" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 59" EXACT [DOID:0110511, MONDORULE:2] synonym: "deafness, autosomal recessive 59" RELATED [MONDO:Lexical, OMIM:610220] synonym: "deafness, autosomal recessive 59; DFNB59" RELATED [OMIM:610220] synonym: "deafness, autosomal recessive type 59" EXACT [MONDORULE:2, OMIM:610220] synonym: "DFNB59" EXACT [DOID:0110511, MONDO:Lexical, OMIM:610220] +synonym: "PJVK autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110511 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110511"} xref: MESH:C565698 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -242470,15 +245223,17 @@ id: MONDO:0012448 name: hereditary spastic paraplegia 33 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ZFYVE27 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant spastic paraplegia 33" EXACT [DOID:0110784] +synonym: "hereditary spastic paraplegia caused by mutation in ZFYVE27" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 33" EXACT [DOID:0110784, MONDORULE:2] synonym: "spastic paraplegia 33, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610244] synonym: "spastic paraplegia 33, autosomal dominant; SPG33" RELATED [OMIM:610244] synonym: "SPG33" EXACT [DOID:0110784, MONDO:Lexical, OMIM:610244] +synonym: "ZFYVE27 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] xref: DOID:0110784 {source="MONDO:equivalentTo"} xref: MESH:C565214 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610244 {source="DOID:0110784", source="MONDO:equivalentTo"} xref: UMLS:C1853251 {source="OMIM:610244", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019064 {source="DC-OMIM:610244", source="DOID:0110784", source="MONDO:Entailed", source="MONDOLEX:0012448", source="OMIM:610244"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DC-OMIM:610244", source="DOID:0110784", source="MESH:C565214", source="MONDO:Entailed", source="MONDOLEX:0012448", source="OMIM:610244"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26559 ! ZFYVE27 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26559 {source="mim2gene_medgen"} ! ZFYVE27 @@ -242565,7 +245320,9 @@ def: "30 years). In some cases, it can present as a complex phenotype with addit subset: ordo_disease {source="Orphanet:101011"} synonym: "autosomal dominant spastic paraplegia 31" EXACT [DOID:0110782] synonym: "autosomal dominant spastic paraplegia type 31" EXACT [DOID:0110782] +synonym: "hereditary spastic paraplegia caused by mutation in REEP1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 31" EXACT [DOID:0110782, MONDORULE:2] +synonym: "REEP1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 31" RELATED [GARD:0010817] synonym: "spastic paraplegia 31, autosomal dominant" RELATED [MONDO:Lexical, OMIM:610250] synonym: "spastic paraplegia 31, autosomal dominant; SPG31" RELATED [OMIM:610250] @@ -242578,7 +245335,7 @@ xref: OMIM:610250 {source="ORDO:101011/e", source="DOID:0110782", source="Orphan xref: Orphanet:101011 {source="DOID:0110782", source="MONDO:equivalentTo", source="OMIM:610250"} xref: UMLS:C1853247 {source="ORDO:101011/e", source="NCBI:mim2gene_medline", source="Orphanet:101011", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:610250"} is_a: MONDO:0017914 {source="Orphanet:101011"} ! pure or complex autosomal dominant spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:610250", source="Orphanet:101011/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110782", source="MESH:C565210", source="MONDO:Redundant", source="OMIM:610250", source="Orphanet:101011/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25786 ! REEP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25786 {source="mim2gene_medgen"} ! REEP1 @@ -242659,7 +245416,7 @@ xref: Orphanet:83461 {source="OMIM:610256", source="MONDO:equivalentTo"} xref: SCTID:35387008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11367", source="MONDO:equivalentTo"} xref: UMLS:C0152422 {source="NCIT:C35172", source="DOID:11367"} xref: UMLS:C1853230 {source="NCBI:mim2gene_medline", source="OMIM:610256", source="Orphanet:83461", source="ORDO:83461/e"} -is_a: MONDO:0001176 {source="DOID:11367", source="MESH:C537786/inferred", source="NCIT:C35172/inferred", source="linkedlife/inferred"} ! lens disease +is_a: MONDO:0001176 {source="DOID:11367", source="MESH:C537786/inferred", source="NCIT:C35172/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lens disease is_a: MONDO:0019503 {source="DC-OMIM:610256", source="OMIM:610256"} ! anterior segment dysgenesis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3808 {source="mim2gene_medgen"} ! FOXE3 relationship: disease_has_major_feature HP:0007707 ! Aphakia @@ -242674,7 +245431,7 @@ synonym: "pyloric stenosis, infantile hypertrophic, 2; IHPS2" RELATED [OMIM:6102 xref: MESH:C565208 {source="MONDO:equivalentTo"} xref: OMIM:610260 {source="MONDO:equivalentTo"} xref: UMLS:C1853228 {source="NCBI:mim2gene_medline", source="OMIM:610260", source="MONDO:equivalentTo"} -is_a: MONDO:0001560 {source="DC-OMIM:610260", source="MONDOLEX:0012457", source="OMIM:610260"} ! hypertrophic pyloric stenosis +is_a: MONDO:0001560 {source="DC-OMIM:610260", source="MESH:C565208", source="MONDOLEX:0012457", source="OMIM:610260"} ! hypertrophic pyloric stenosis is_a: MONDO:0003847 ! inherited genetic disease property_value: confidence "3.8773052888279222" xsd:double @@ -242708,11 +245465,13 @@ name: autosomal recessive nonsyndromic deafness 67 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LHFPL5 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "autosomal recessive deafness 67" EXACT [DOID:0110518] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LHFPL5" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 67" EXACT [DOID:0110518, MONDORULE:2] synonym: "deafness, autosomal recessive 67" RELATED [MONDO:Lexical, OMIM:610265] synonym: "deafness, autosomal recessive 67; DFNB67" RELATED [OMIM:610265] synonym: "deafness, autosomal recessive type 67" EXACT [MONDORULE:2, OMIM:610265] synonym: "DFNB67" EXACT [DOID:0110518, MONDO:Lexical, OMIM:610265] +synonym: "LHFPL5 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110518 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110518"} xref: MESH:C565207 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -242763,9 +245522,11 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:0010402"} synonym: "retinitis pigmentosa 35" EXACT [MONDO:Lexical, OMIM:610282] synonym: "retinitis pigmentosa 35; RP35" RELATED [OMIM:610282] +synonym: "retinitis pigmentosa caused by mutation in SEMA4A" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 35" EXACT [DOID:0110357, MONDORULE:2, OMIM:610282] synonym: "RP 35" RELATED [GARD:0010402] synonym: "RP35" EXACT [DOID:0110357, MONDO:Lexical, OMIM:610282] +synonym: "SEMA4A retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110357 {source="MONDO:equivalentTo"} xref: GARD:0010402 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110357", source="MONDO:relatedTo"} @@ -242785,9 +245546,11 @@ name: cone-rod dystrophy 10 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the SEMA4A gene." [MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 10" EXACT [MONDO:Lexical, OMIM:610283] synonym: "cone-ROD dystrophy 10; CORD10" RELATED [OMIM:610283] +synonym: "cone-rod dystrophy caused by mutation in SEMA4A" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 10" EXACT [MONDORULE:2, OMIM:610283] synonym: "cone-rod dystrophy type 10" EXACT [DOID:0111017, MONDORULE:2] synonym: "CORD10" EXACT [DOID:0111017, MONDO:Lexical, OMIM:610283] +synonym: "SEMA4A cone-rod dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0111017 {source="MONDO:equivalentTo"} xref: MESH:C564597 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610283 {source="DOID:0111017", source="MONDO:equivalentTo"} @@ -242829,15 +245592,17 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9965/hypercoa id: MONDO:0012466 name: Parkinson disease 13, autosomal dominant, susceptibility to def: "Any young-onset Parkinson disease in which the cause of the disease is a mutation in the HTRA2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HTRA2 young-onset Parkinson disease" EXACT [MONDO:design_pattern] synonym: "PARK13" RELATED [MONDO:Lexical, OMIM:610297] synonym: "Parkinson disease 13, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:610297] synonym: "Parkinson disease 13, autosomal dominant, susceptibility to; PARK13" RELATED [OMIM:610297] synonym: "susceptibility to autosomal dominant Parkinson disease 13" RELATED [OMIM:610297] +synonym: "young-onset Parkinson disease caused by mutation in HTRA2" EXACT [MONDO:design_pattern] xref: MESH:C565204 {source="MONDO:equivalentTo"} xref: OMIM:610297 {source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="OMIM:610297", source="MONDO:subClassOf"} xref: UMLS:C1853202 {source="OMIM:610297", source="NCBI:mim2gene_medline"} -is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:610297"} ! Parkinson disease +is_a: MONDO:0005180 {source="MESH:C565204", source="MONDO:Redundant", source="OMIM:610297"} ! Parkinson disease is_a: MONDO:0017279 {source="ORDO:2828/btnt"} ! young-onset Parkinson disease intersection_of: MONDO:0017279 ! young-onset Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14348 ! HTRA2 @@ -242849,8 +245614,10 @@ id: MONDO:0012467 name: cold-induced sweating syndrome 2 def: "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the CLCF1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CISS2" RELATED [MONDO:Lexical, OMIM:610313] +synonym: "CLCF1 cold-induced sweating syndrome" EXACT [MONDO:design_pattern] synonym: "cold-induced sweating syndrome 2" EXACT [MONDO:Lexical, OMIM:610313] synonym: "cold-induced sweating syndrome 2; CISS2" RELATED [OMIM:610313] +synonym: "cold-induced sweating syndrome caused by mutation in CLCF1" EXACT [MONDO:design_pattern] synonym: "cold-induced sweating syndrome type 2" EXACT [MONDORULE:1, OMIM:610313] synonym: "Crisponi/cold-induced sweating syndrome 2" RELATED [OMIM:610313] synonym: "CRISPONI/cold-induced sweating syndrome 2; CISS2" RELATED [OMIM:610313] @@ -242885,7 +245652,7 @@ synonym: "MYP14" EXACT [MONDO:Lexical, OMIM:610320] xref: MESH:C565202 {source="MONDO:equivalentTo"} xref: OMIM:610320 {source="MONDO:equivalentTo"} xref: UMLS:C1853196 {source="NCBI:mim2gene_medline", source="OMIM:610320", source="MONDO:equivalentTo"} -is_a: MONDO:0001384 {source="DC-OMIM:610320", source="OMIM:610320"} ! myopia (disease) +is_a: MONDO:0001384 {source="DC-OMIM:610320", source="MESH:C565202", source="OMIM:610320"} ! myopia (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -242909,8 +245676,10 @@ def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a muta synonym: "AGS3" RELATED [MONDO:Lexical, OMIM:610329] synonym: "Aicardi-Goutieres syndrome 3" EXACT [MONDO:Lexical, OMIM:610329] synonym: "Aicardi-Goutieres syndrome 3; AGS3" RELATED [OMIM:610329] +synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2C" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 3" EXACT [MONDORULE:1, OMIM:610329] synonym: "RNASEH2C -related Aicardi-Goutieres syndrome" RELATED [GARD:0010895] +synonym: "RNASEH2C Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern] xref: GARD:0010895 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: MESH:C563683 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610329 {source="MONDO:equivalentTo"} @@ -242929,7 +245698,9 @@ def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a muta synonym: "AGS4" RELATED [MONDO:Lexical, OMIM:610333] synonym: "Aicardi-Goutieres syndrome 4" EXACT [MONDO:Lexical, OMIM:610333] synonym: "Aicardi-Goutieres syndrome 4; AGS4" RELATED [OMIM:610333] +synonym: "Aicardi-Goutieres syndrome caused by mutation in RNASEH2A" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 4" EXACT [MONDORULE:1, OMIM:610333] +synonym: "RNASEH2A Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern] synonym: "RNASEH2A-related Aicardi-Goutieres syndrome" RELATED [GARD:0010896] xref: GARD:0010896 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: MESH:C563681 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -242964,7 +245735,9 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10146/anomalo id: MONDO:0012474 name: autosomal dominant nocturnal frontal lobe epilepsy 4 def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the CHRNA2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in CHRNA2" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 4" EXACT [DOID:0060685, MONDORULE:1] +synonym: "CHRNA2 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern] synonym: "convulsions, benign familial infantile, 6" RELATED [OMIM:610353] synonym: "ENFL4" EXACT [DOID:0060685, MONDO:Lexical, OMIM:610353] synonym: "epilepsy, familial, with nocturnal wandering and Ictal fear" RELATED [OMIM:610353] @@ -243019,7 +245792,9 @@ def: "Autosomal spastic paraplegia type 30 (SPG30) is a form of hereditary spast subset: ordo_disease {source="Orphanet:101010"} synonym: "autosomal recessive spastic paraplegia 30" EXACT [DOID:0110781] synonym: "autosomal spastic paraplegia type 30" EXACT [DOID:0110781] +synonym: "hereditary spastic paraplegia caused by mutation in KIF1A" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 30" EXACT [DOID:0110781, MONDORULE:2] +synonym: "KIF1A hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 30, autosomal recessive" RELATED [MONDO:Lexical, OMIM:610357] synonym: "spastic paraplegia 30, autosomal recessive; SPG30" RELATED [OMIM:610357] synonym: "SPG30" EXACT [DOID:0110781, MONDO:Lexical, OMIM:610357, Orphanet:101010] @@ -243031,7 +245806,7 @@ xref: Orphanet:101010 {source="DOID:0110781", source="OMIM:610357", source="MOND xref: UMLS:C1835896 {source="NCBI:mim2gene_medline", source="Orphanet:101010", source="OMIM:610357", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0017914 {source="Orphanet:101010"} ! pure or complex autosomal dominant spastic paraplegia is_a: MONDO:0017915 {source="Orphanet:101010"} ! pure or complex autosomal recessive spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:610357", source="Orphanet:101010/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110781", source="MONDO:Redundant", source="OMIM:610357", source="Orphanet:101010/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/888 ! KIF1A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/888 {source="mim2gene_medgen"} ! KIF1A @@ -243044,9 +245819,11 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:0010400"} synonym: "retinitis pigmentosa 33" EXACT [MONDO:Lexical, OMIM:610359] synonym: "retinitis pigmentosa 33; RP33" RELATED [OMIM:610359] +synonym: "retinitis pigmentosa caused by mutation in SNRNP200" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 33" EXACT [DOID:0110366, MONDORULE:2, OMIM:610359] synonym: "RP 33" RELATED [GARD:0010400] synonym: "RP33" EXACT [DOID:0110366, MONDO:Lexical, OMIM:610359] +synonym: "SNRNP200 retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110366 {source="MONDO:equivalentTo"} xref: GARD:0010400 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110366", source="MONDO:relatedTo"} @@ -243062,7 +245839,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10400/retinit [Term] id: MONDO:0012478 name: OFC9 -synonym: "cleft 51P with or without cleft palate, nonsyndromic, 9" RELATED [OMIM:610361] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 9" RELATED [OMIM:610361] synonym: "OFC9" EXACT [MONDO:Lexical, OMIM:610361] synonym: "orofacial cleft 9" RELATED [MONDO:Lexical, OMIM:610361] synonym: "orofacial cleft 9; OFC9" RELATED [OMIM:610361] @@ -243071,9 +245848,7 @@ xref: OMIM:610361 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="MONDO:subClassOf", source="OMIM:610361"} xref: UMLS:C1835894 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610361"} is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:610361"} ! orofacial cleft -is_a: MONDO:0015420 ! cleft lip and alveolus -is_a: MONDO:0016043 ! isolated cleft lip -is_a: MONDO:0016044 ! cleft lip/palate +relationship: has_modifier MONDO:0021128 ! has an isolated presentation property_value: confidence "1.7876687750502525" xsd:double [Term] @@ -243081,12 +245856,14 @@ id: MONDO:0012479 name: congenital malabsorptive diarrhea 4 def: "Congenital malabsorptive diarrhea due to paucity of enteroendocrine cells is an exceedingly rare genetic gastroenterological disease characterized by severe malabsorptive diarrhea and a lack of intestinal enteroendocrine cells. Within the first weeks of life, patients present with vomiting, dehydration, and severe diarrhea unresponsive to various nutrients and formulas, and require home parenteral nutrition. Diabetes mellitus has also been reported." [Orphanet:83620] subset: ordo_disease {source="Orphanet:83620"} +synonym: "congenital diarrhea caused by mutation in NEUROG3" EXACT [MONDO:design_pattern] synonym: "congenital malabsorptive diarrhea due to paucity of enteroendocrine cells" EXACT [DOID:0060779] synonym: "congenital malabsorptive diarrhea type 4" EXACT [DOID:0060779, MONDORULE:1] synonym: "DIAR4" RELATED [MONDO:Lexical, OMIM:610370] synonym: "diarrhea 4, malabsorptive, congenital" RELATED [MONDO:Lexical, OMIM:610370] synonym: "diarrhea 4, malabsorptive, congenital; DIAR4" RELATED [OMIM:610370] synonym: "enteric anendocrinosis" EXACT [DOID:0060779, OMIM:610370, Orphanet:83620] +synonym: "NEUROG3 congenital diarrhea" EXACT [MONDO:design_pattern] xref: DOID:0060779 {source="MONDO:equivalentTo"} xref: ICD10:P78.3 {source="DOID:0060779", source="Orphanet:83620", source="ORDO:83620/ntbt", source="ORDO:83620/attributed"} xref: MESH:C563673 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -243174,9 +245951,11 @@ name: cone-rod dystrophy 11 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAX2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 11" EXACT [MONDO:Lexical, OMIM:610381] synonym: "cone-ROD dystrophy 11; CORD11" RELATED [OMIM:610381] +synonym: "cone-rod dystrophy caused by mutation in RAX2" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 11" EXACT [MONDORULE:2, OMIM:610381] synonym: "cone-rod dystrophy type 11" EXACT [DOID:0111018, MONDORULE:2] synonym: "CORD11" EXACT [DOID:0111018, MONDO:Lexical, OMIM:610381] +synonym: "RAX2 cone-rod dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0111018 {source="MONDO:equivalentTo"} xref: MESH:C563671 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610381 {source="DOID:0111018", source="MONDO:equivalentTo"} @@ -243211,10 +245990,12 @@ id: MONDO:0012485 name: autosomal recessive nonsyndromic deafness 68 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the S1PR2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 68" EXACT [DOID:0110519] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in S1PR2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 68" EXACT [DOID:0110519, MONDORULE:2] synonym: "deafness, autosomal recessive 68" RELATED [MONDO:Lexical, OMIM:610419] synonym: "deafness, autosomal recessive 68; DFNB68" RELATED [OMIM:610419] synonym: "DFNB68" EXACT [DOID:0110519, MONDO:Lexical, OMIM:610419] +synonym: "S1PR2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110519 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110519"} xref: MESH:C563669 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -243279,7 +246060,9 @@ synonym: "cataract 23, multiple types, with or without microcornea" RELATED [OMI synonym: "cataract 23, multiple types; CTRCT23" RELATED [OMIM:610425] synonym: "cataract 23; CTRCT23" RELATED [OMIM:610425] synonym: "cataract type 23" EXACT [DOID:0110271, MONDORULE:2, OMIM:610425] +synonym: "CRYBA4 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] synonym: "CTRCT23" EXACT [DOID:0110271, MONDO:Lexical, OMIM:610425] +synonym: "early-onset non-syndromic cataract caused by mutation in CRYBA4" EXACT [MONDO:design_pattern] synonym: "lamellar cataract 23" EXACT [DOID:0110271] xref: DOID:0110271 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110271"} @@ -243288,7 +246071,7 @@ xref: Orphanet:91492 {source="OMIM:610425", source="MONDO:subClassOf"} xref: Orphanet:98995 {source="OMIM:610425", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C1864879 {source="NCBI:mim2gene_medline"} xref: UMLS:C3808012 {source="OMIM:610425", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:610425"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110271", source="MONDO:Redundant", source="OMIM:610425"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2396 ! CRYBA4 @@ -243443,11 +246226,13 @@ id: MONDO:0012498 name: congenital stationary night blindness autosomal dominant 1 def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the RHO gene." [MONDO:patterns/disease_series_by_gene] synonym: "congenital stationary night blindness autosomal dominant type 1" EXACT [DOID:0110862, MONDORULE:1] +synonym: "congenital stationary night blindness caused by mutation in RHO" EXACT [MONDO:design_pattern] synonym: "CSNBAD1" EXACT [DOID:0110862, MONDO:Lexical, OMIM:610445] synonym: "night blindness, congenital stationary, autosomal dominant 1" RELATED [MONDO:Lexical, OMIM:610445] synonym: "night blindness, congenital stationary, autosomal dominant 1; CSNBAD1" RELATED [OMIM:610445] synonym: "night blindness, congenital stationary, autosomal dominant type 1" EXACT [MONDORULE:1, OMIM:610445] synonym: "night blindness, congenital stationary, rhodopsin-Related" RELATED [OMIM:610445] +synonym: "RHO congenital stationary night blindness" EXACT [MONDO:design_pattern] synonym: "rhodopsin-related congenital stationary night blindness" EXACT [DOID:0110862] xref: DOID:0110862 {source="MONDO:equivalentTo"} xref: MESH:C566474 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -243477,7 +246262,9 @@ def: "Any chilblain lupus in which the cause of the disease is a mutation in the synonym: "CHBL1" RELATED [MONDO:Lexical, OMIM:610448] synonym: "chilblain lupus 1" EXACT [MONDO:Lexical, OMIM:610448] synonym: "chilblain lupus 1; CHBL1" RELATED [OMIM:610448] +synonym: "chilblain lupus caused by mutation in TREX1" EXACT [MONDO:design_pattern] synonym: "chilblain lupus type 1" EXACT [MONDORULE:1, OMIM:610448] +synonym: "TREX1 chilblain lupus" EXACT [MONDO:design_pattern] xref: OMIM:610448 {source="MONDO:equivalentTo"} xref: Orphanet:90280 {source="OMIM:610448", source="MONDO:subClassOf"} xref: UMLS:C3277619 {source="NCBI:mim2gene_medline", source="OMIM:610448"} @@ -243526,15 +246313,14 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10878/normoph [Term] id: MONDO:0012503 name: thiopurine S-methyltransferase deficiency -def: "An inherited metabolic disease that is characterized by significantly reduced activity of an enzyme that helps the body process drugs called thiopurines." [DOID:0080172, https://ghr.nlm.nih.gov/condition/thiopurine-s-methyltransferase-deficiency#statistics] synonym: "6-mercaptopurine sensitivity" RELATED [GARD:0005173] synonym: "poor metabolism of thiopurines-1" EXACT [DOID:0080172] synonym: "thiopurine methyltransferase deficiency" RELATED [GARD:0005173] synonym: "thiopurine S methyltranferase deficiency" RELATED [GARD:0005173] synonym: "thiopurine S-methyltransferase deficiency" EXACT [OMIM:610460] synonym: "Thiopurines, poor metabolism of" RELATED [OMIM:610460] -synonym: "Thiopurines, poor metabolism Of, 1" RELATED [OMIM:610460] -synonym: "THIOPURINES, poor metabolism OF, 1; THPM1" RELATED [OMIM:610460] +synonym: "Thiopurines, poor metabolism of, 1" RELATED [OMIM:610460] +synonym: "thiopurines, poor metabolism of, 1; THPM1" RELATED [OMIM:610460] synonym: "THPM1" RELATED [OMIM:610460] synonym: "TPMT deficiency" EXACT [DOID:0080172] synonym: "TPMT deficiency" RELATED [OMIM:610460] @@ -243547,6 +246333,8 @@ xref: UMLS:C0342801 {source="NCBI:mim2gene_medline", source="OMIM:610460"} xref: UMLS:C2931223 {source="OMIM:610460"} is_a: MONDO:0000210 {source="DC-OMIM:610460", source="OMIM:610460"} ! thiopurine metabolic disease is_a: MONDO:0019052 {source="DOID:0080172", source="MESH:C536512/inferred", source="Orphanet:3315/inferred"} ! inborn errors of metabolism +intersection_of: MONDO:0019052 ! inborn errors of metabolism +intersection_of: disease_has_basis_in_disruption_of GO:0008119 ! thiopurine S-methyltransferase activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12014 {source="mim2gene_medgen"} ! TPMT [Term] @@ -243577,11 +246365,13 @@ id: MONDO:0012505 name: pigmented nodular adrenocortical disease, primary, 2 def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE11A gene." [MONDO:patterns/disease_series_by_gene] synonym: "Cushing syndrome, adrenal, due to PPNAD2" RELATED [OMIM:610475] +synonym: "PDE11A primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern] synonym: "pigmented micronodular adrenocortical disease, primary, 2" RELATED [OMIM:610475] synonym: "pigmented nodular adrenocortical disease, primary, 2" EXACT [MONDO:Lexical, OMIM:610475] synonym: "pigmented nodular adrenocortical disease, primary, 2; PPNAD2" RELATED [OMIM:610475] synonym: "pigmented nodular adrenocortical disease, primary, type 2" EXACT [MONDORULE:1, OMIM:610475] synonym: "PPNAD2" RELATED [MONDO:Lexical, OMIM:610475] +synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PDE11A" EXACT [MONDO:design_pattern] xref: MESH:C566472 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610475 {source="MONDO:equivalentTo"} xref: Orphanet:189439 {source="OMIM:610475", source="MONDO:subClassOf"} @@ -243606,7 +246396,9 @@ synonym: "arrhythmogenic right ventricular dysplasia, familial, 11; ARVD11" RELA synonym: "arrhythmogenic right ventricular dysplasia, familial, type 11" EXACT [MONDORULE:2, OMIM:610476] synonym: "ARVC11" EXACT [DOID:0110082] synonym: "ARVD11" EXACT [DOID:0110082, MONDO:Lexical, OMIM:610476] +synonym: "DSC2 familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern] synonym: "familial arrhythmogenic right ventricular dysplasia 11" EXACT [DOID:0110082] +synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in DSC2" EXACT [MONDO:design_pattern] xref: DOID:0110082 {source="MONDO:equivalentTo"} xref: ICD10:I42.8 {source="DOID:0110082"} xref: MESH:C566471 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -243615,7 +246407,7 @@ xref: Orphanet:217656 {source="OMIM:610476", source="MONDO:subClassOf"} xref: UMLS:C1864850 {source="NCBI:mim2gene_medline", source="OMIM:610476"} xref: UMLS:C3552311 {source="OMIM:610476"} is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia -is_a: MONDO:0016587 {source="MESH:C566471", source="MONDO:Redundant", source="OMIM:610476"} ! arrhythmogenic right ventricular cardiomyopathy +is_a: MONDO:0016587 {source="DOID:0110082", source="MESH:C566471", source="MONDO:Redundant", source="OMIM:610476"} ! arrhythmogenic right ventricular cardiomyopathy intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3036 ! DSC2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3036 {source="mim2gene_medgen"} ! DSC2 @@ -243626,6 +246418,8 @@ id: MONDO:0012507 name: retinal cone dystrophy 4 def: "Any cone dystrophy in which the cause of the disease is a mutation in the CACNA2D4 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010650"} +synonym: "CACNA2D4 cone dystrophy" EXACT [MONDO:design_pattern] +synonym: "cone dystrophy caused by mutation in CACNA2D4" EXACT [MONDO:design_pattern] synonym: "RCD4" RELATED [MONDO:Lexical, OMIM:610478] synonym: "retinal cone dystrophy 4" EXACT [MONDO:Lexical, OMIM:610478] synonym: "retinal cone dystrophy 4; RCD4" RELATED [OMIM:610478] @@ -243673,6 +246467,8 @@ synonym: "pigmented nodular adrenocortical disease, primary, 1" EXACT [MONDO:Lex synonym: "pigmented nodular adrenocortical disease, primary, 1; PPNAD1" RELATED [OMIM:610489] synonym: "pigmented nodular adrenocortical disease, primary, type 1" EXACT [MONDORULE:1, OMIM:610489] synonym: "PPNAD1" RELATED [MONDO:Lexical, OMIM:610489] +synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PRKAR1A" EXACT [MONDO:design_pattern] +synonym: "PRKAR1A primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern] xref: MESH:C566469 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610489 {source="MONDO:equivalentTo"} xref: Orphanet:189439 {source="OMIM:610489", source="MONDO:subClassOf"} @@ -243690,9 +246486,11 @@ def: "Combined oxidative phosphorylation defect type 2 is a rare mitochondrial d subset: ordo_disease {source="Orphanet:254920"} synonym: "combined oxidative phosphorylation deficiency 2" RELATED [MONDO:Lexical, OMIM:610498] synonym: "combined oxidative phosphorylation deficiency 2; COXPD2" RELATED [OMIM:610498] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPS16" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 2" EXACT [MONDORULE:1, OMIM:610498] synonym: "corpus callosum, agenesis of, with Dysmorphism and fatal lactic acidosis" RELATED [OMIM:610498] synonym: "COXPD2" EXACT [MONDO:Lexical, OMIM:610498, Orphanet:254920] +synonym: "MRPS16 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: ICD10:E88.8 {source="Orphanet:254920", source="ORDO:254920/ntbt", source="ORDO:254920/attributed"} xref: MESH:C566468 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610498 {source="Orphanet:254920", source="ORDO:254920/e", source="MONDO:equivalentTo"} @@ -243728,11 +246526,13 @@ def: "Combined oxidative phosphorylation deficiency type 3 is an extremely rare subset: ordo_disease {source="Orphanet:168566"} synonym: "combined oxidative phosphorylation deficiency 3" RELATED [MONDO:Lexical, OMIM:610505] synonym: "combined oxidative phosphorylation deficiency 3; COXPD3" RELATED [OMIM:610505] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in TSFM" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 3" EXACT [MONDORULE:1, OMIM:610505] synonym: "concentric cardiomyopathy, hypotonia, and lactic acidosis" RELATED [OMIM:610505] synonym: "COXPD3" RELATED [MONDO:Lexical, OMIM:610505] synonym: "encephalomyopathy, respiratory failure, and lactic acidosis" RELATED [OMIM:610505] synonym: "fatal mitochondrial disease due to COXPD3" EXACT [Orphanet:168566] +synonym: "TSFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: ICD10:E88.8 {source="Orphanet:168566", source="ORDO:168566/ntbt", source="ORDO:168566/attributed"} xref: MESH:C566467 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610505 {source="Orphanet:168566", source="ORDO:168566/e", source="MONDO:equivalentTo"} @@ -243741,7 +246541,7 @@ xref: SCTID:720951008 {source="MONDO:kboom-pr-1.00/0.80/9.05", source="MONDO:equ xref: UMLS:C1864840 {source="NCBI:mim2gene_medline", source="Orphanet:168566", source="OMIM:610505"} is_a: MONDO:0000732 {source="DC-OMIM:610505", source="OMIM:610505"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0018157 {source="Orphanet:168566"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis -intersection_of: MONDO:0018157 ! mitochondrial disorder due to a defect in mitochondrial protein synthesis +intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12367 ! TSFM relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12367 {source="mim2gene_medgen"} ! TSFM property_value: confidence "2.941176470588235" xsd:double @@ -243777,12 +246577,14 @@ id: MONDO:0012514 name: hypomyelinating leukodystrophy 5 def: "Hypomyelination-congenital cataract is characterized by the onset of cataract either at birth or in the first two months of life, delayed psychomotor development by the end of the first year of life and moderate intellectual deficit." [Orphanet:85163] subset: ordo_malformation_syndrome {source="Orphanet:85163"} +synonym: "FAM126A leukodystrophy" EXACT [MONDO:design_pattern] synonym: "HLD5" EXACT [DOID:0060793, MONDO:Lexical, OMIM:610532] synonym: "hypomyelinating leukodystrophy type 5" EXACT [DOID:0060793, MONDORULE:1] synonym: "hypomyelination - congenital cataract" RELATED [GARD:0011980] synonym: "hypomyelination and congenital cataract" RELATED [GARD:0011980] synonym: "hypomyelination and congenital cataract: HCC" RELATED [OMIM:610532] synonym: "hypomyelination-congenital cataract syndrome" EXACT [DOID:0060793] +synonym: "leukodystrophy caused by mutation in FAM126A" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 5" RELATED [MONDO:Lexical, OMIM:610532] synonym: "leukodystrophy, hypomyelinating, 5; HLD5" RELATED [OMIM:610532] synonym: "leukodystrophy, hypomyelinating, type 5" EXACT [MONDORULE:1, OMIM:610532] @@ -243798,7 +246600,7 @@ xref: UMLS:C1864663 {source="OMIM:610532", source="Orphanet:85163", source="MOND xref: UMLS:C2674508 {source="NCBI:mim2gene_medline"} is_a: MONDO:0004884 {source="OWLReasoner:2017"} ! eye degenerative disease is_a: MONDO:0015983 {source="Orphanet:85163"} ! rare genetic syndromic intellectual disability -is_a: MONDO:0019046 {source="DOID:0060793", source="OMIM:610532", source="Orphanet:85163"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0060793", source="DOID:0060793/inferred", source="OMIM:610532", source="Orphanet:85163"} ! leukodystrophy is_a: MONDO:0020225 {source="Orphanet:85163"} ! syndromic cataract intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24587 ! FAM126A @@ -243858,8 +246660,10 @@ def: "Any Gaucher disease in which the cause of the disease is a mutation in the subset: ordo_clinical_subtype {source="Orphanet:309252"} synonym: "atypical Gaucher disease due to saposin C deficiency" EXACT [Orphanet:309252] synonym: "atypical Gaucher's disease due to saposin c deficiency" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +synonym: "Gaucher disease caused by mutation in PSAP" EXACT [MONDO:design_pattern] synonym: "Gaucher disease, atypical" RELATED [GARD:0012503] synonym: "Gaucher disease, atypical, due to saposin C deficiency" RELATED [OMIM:610539] +synonym: "PSAP Gaucher disease" EXACT [MONDO:design_pattern] xref: DOID:0110961 {source="MONDO:equivalentTo"} xref: GARD:0012503 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:E75.2 {source="ORDO:309252/ntbt", source="Orphanet:309252", source="DOID:0110961", source="ORDO:309252/attributed"} @@ -243881,6 +246685,8 @@ def: "Any congenital myasthenic syndromes with glycosylation defect in which the synonym: "CMS12" EXACT [DOID:0110660, MONDO:Lexical, OMIM:610542] synonym: "congenital myasthenia 12 with tubular aggregates" EXACT [DOID:0110660] synonym: "congenital myasthenic syndrome type 12" EXACT [DOID:0110660, MONDORULE:2] +synonym: "congenital myasthenic syndromes with glycosylation defect caused by mutation in GFPT1" EXACT [MONDO:design_pattern] +synonym: "GFPT1 congenital myasthenic syndromes with glycosylation defect" EXACT [MONDO:design_pattern] synonym: "myasthenic syndrome, congenital, 12" RELATED [MONDO:Lexical, OMIM:610542] synonym: "myasthenic syndrome, congenital, 12; CMS12" RELATED [OMIM:610542] synonym: "myasthenic syndrome, congenital, type 12" EXACT [MONDORULE:2, OMIM:610542] @@ -244010,8 +246816,10 @@ id: MONDO:0012523 name: retinitis pigmentosa 36 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRCD gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010403"} +synonym: "PRCD retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 36" EXACT [MONDO:Lexical, OMIM:610599] synonym: "retinitis pigmentosa 36; RP36" RELATED [OMIM:610599] +synonym: "retinitis pigmentosa caused by mutation in PRCD" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 36" EXACT [DOID:0110405, MONDORULE:2, OMIM:610599] synonym: "RP 36" RELATED [GARD:0010403] synonym: "RP36" EXACT [DOID:0110405, MONDO:Lexical, OMIM:610599] @@ -244054,7 +246862,9 @@ synonym: "amaurosis congenita of Leber, type 12" RELATED [GARD:0010489] synonym: "LCA12" EXACT [DOID:0110080, MONDO:Lexical, OMIM:610612] synonym: "Leber congenital amaurosis 12" EXACT [MONDO:Lexical, OMIM:610612] synonym: "Leber congenital amaurosis 12; LCA12" RELATED [OMIM:610612] +synonym: "Leber congenital amaurosis caused by mutation in RD3" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 12" EXACT [DOID:0110080, MONDORULE:2, OMIM:610612] +synonym: "RD3 Leber congenital amaurosis" EXACT [MONDO:design_pattern] xref: DOID:0110080 {source="MONDO:equivalentTo"} xref: GARD:0010489 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110080", source="MONDO:relatedTo"} @@ -244078,11 +246888,13 @@ synonym: "angioedema, hereditary, type III; HAE3" RELATED [OMIM:610618] synonym: "angioneurotic edema, hereditary, with Normal C1 Inhibitor concentration and function" RELATED [OMIM:610618] synonym: "estrogen-Related Hae" RELATED [OMIM:610618] synonym: "estrogen-sensitive Hae" RELATED [OMIM:610618] +synonym: "F12 hereditary angioedema" EXACT [MONDO:design_pattern] synonym: "HAE 3" EXACT [Orphanet:100054] synonym: "Hae 3" RELATED [OMIM:610618] synonym: "Hae with Normal C1 Inhibitor concentration and function" RELATED [OMIM:610618] synonym: "HAE-III" EXACT [Orphanet:100054] synonym: "HAE3" RELATED [MONDO:Lexical, OMIM:610618] +synonym: "hereditary angioedema caused by mutation in F12" EXACT [MONDO:design_pattern] synonym: "hereditary angioedema with Normal C1 Inhibitor activity" RELATED [OMIM:610618] synonym: "hereditary angioneurotic edema type 3" EXACT [Orphanet:100054] synonym: "inherited estrogen-associated angioedema" EXACT [Orphanet:100054] @@ -244116,6 +246928,8 @@ synonym: "CPP4" NARROW [DOID:0110249] synonym: "Cpp4" RELATED [OMIM:610623] synonym: "CTPP4" NARROW [DOID:0110249] synonym: "CTRCT11" EXACT [DOID:0110249, MONDO:Lexical, OMIM:610623] +synonym: "early-onset non-syndromic cataract caused by mutation in PITX3" EXACT [MONDO:design_pattern] +synonym: "PITX3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] synonym: "posterior polar cataract 4" NARROW [DOID:0110249] synonym: "Posterior polar cataract, 4" RELATED [GARD:0010228] xref: DOID:0110249 {source="MONDO:equivalentTo"} @@ -244127,7 +246941,7 @@ xref: Orphanet:91492 {source="OMIM:610623", source="MONDO:subClassOf"} xref: Orphanet:98993 {source="OMIM:610623", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C1864567 {source="NCBI:mim2gene_medline", source="OMIM:610623"} xref: UMLS:C3808029 {source="OMIM:610623"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C535344", source="MONDO:Redundant", source="OMIM:610623"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110249", source="MESH:C535344", source="MONDO:Redundant", source="OMIM:610623"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9006 ! PITX3 @@ -244142,9 +246956,11 @@ subset: gard_rare synonym: "HH4" RELATED [MONDO:Lexical, OMIM:610628] synonym: "hypogonadotropic hypogonadism 4 with or without anosmia" EXACT [MONDO:Lexical, OMIM:610628] synonym: "hypogonadotropic hypogonadism 4 with or without anosmia; HH4" RELATED [OMIM:610628] +synonym: "hypogonadotropic hypogonadism caused by mutation in PROK2" EXACT [MONDO:design_pattern] synonym: "KAL4" NARROW [GARD:0010772, https://github.com/monarch-initiative/mondo-build/issues/77] synonym: "Kallman syndrome 4" NARROW [GARD:0010772, https://github.com/monarch-initiative/mondo-build/issues/77] synonym: "Kallmann syndrome 4" RELATED [GARD:0010772] +synonym: "PROK2 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] xref: DOID:0090077 {source="MONDO:equivalentTo"} xref: GARD:0010772 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090077", source="MONDO:relatedTo"} @@ -244153,7 +246969,7 @@ xref: OMIM:610628 {source="DOID:0090077", source="GARD:0010772", source="MONDO:e xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:610628"} xref: UMLS:C1857720 {source="NCBI:mim2gene_medline"} xref: UMLS:C3552343 {source="OMIM:610628", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:0012528/inferred", source="MONDO:Redundant", source="MONDOLEX:0012528/inferred", source="OMIM:610628"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090077", source="MONDO:0012528/inferred", source="MONDO:Redundant", source="MONDOLEX:0012528/inferred", source="OMIM:610628"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="MESH:C565696", source="MONDOLEX:0012528", source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18455 ! PROK2 @@ -244169,7 +246985,9 @@ synonym: "Anemia Diamond-Blackfan 3" RELATED [GARD:0010241] synonym: "DBA3" RELATED [MONDO:Lexical, OMIM:610629] synonym: "Diamond-Blackfan anemia 3" EXACT [MONDO:Lexical, OMIM:610629] synonym: "DIAMOND-Blackfan ANEMIA 3; DBA3" RELATED [OMIM:610629] +synonym: "Diamond-Blackfan anemia caused by mutation in RPS24" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 3" EXACT [MONDORULE:1, OMIM:610629] +synonym: "RPS24 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: GARD:0010241 {source="MONDO:equivalentTo"} xref: MESH:C536355 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610629 {source="MONDO:equivalentTo"} @@ -244206,7 +247024,9 @@ id: MONDO:0012531 name: xeroderma pigmentosum group B def: "Any xeroderma pigmentosum in which the cause of the disease is a mutation in the ERCC3 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare +synonym: "ERCC3 xeroderma pigmentosum" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum B/Cockayne syndrome" RELATED [OMIM:610651] +synonym: "xeroderma pigmentosum caused by mutation in ERCC3" EXACT [MONDO:design_pattern] synonym: "xeroderma pigmentosum group type B" EXACT [DOID:0110850, MONDORULE:1] synonym: "xeroderma pigmentosum, complementation group B" RELATED [MONDO:Lexical, OMIM:610651] synonym: "xeroderma pigmentosum, complementation group B; XPB" RELATED [OMIM:610651] @@ -244231,7 +247051,7 @@ xref: SCTID:1073003 {source="MONDO:kboom-pr-1.00/0.79/8.41", source="MONDO:equiv xref: UMLS:C0268136 {source="NCIT:C3966", source="OMIM:610651", source="MONDO:equivalentTo"} xref: UMLS:C1970808 {source="OMIM:610651", source="NCBI:mim2gene_medline"} is_a: MONDO:0016354 {source="ORDO:220295/btnt"} ! xeroderma pigmentosum-Cockayne syndrome complex -is_a: MONDO:0019600 {source="DC-OMIM:610651", source="DOID:0110850", source="MONDO:Entailed", source="NCIT:C3966", source="linkedlifedata"} ! xeroderma pigmentosum +is_a: MONDO:0019600 {source="DC-OMIM:610651", source="DOID:0110850", source="MESH:C562590", source="MONDO:Entailed", source="NCIT:C3966", source="linkedlifedata"} ! xeroderma pigmentosum intersection_of: MONDO:0019600 ! xeroderma pigmentosum intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3435 ! ERCC3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3435 {source="mim2gene_medgen"} ! ERCC3 @@ -244249,7 +247069,7 @@ xref: MESH:C565691 {source="MONDO:equivalentTo"} xref: OMIM:610655 {source="GARD:0010615", source="MONDO:equivalentTo"} xref: Orphanet:774 {source="GARD:0010615", source="OMIM:610655", source="MONDO:subClassOf"} xref: UMLS:C1857688 {source="GARD:0010615", source="NCBI:mim2gene_medline", source="OMIM:610655"} -is_a: MONDO:0019180 {source="DC-OMIM:610655", source="MONDOLEX:0012532", source="OMIM:610655"} ! hereditary hemorrhagic telangiectasia +is_a: MONDO:0019180 {source="DC-OMIM:610655", source="MESH:C565691", source="MONDOLEX:0012532", source="OMIM:610655"} ! hereditary hemorrhagic telangiectasia property_value: confidence "1.87291668178728" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10615/hereditary-hemorrhagic-telangiectasia-type-4 xsd:anyURI {source="GARD:0010615"} @@ -244271,8 +247091,10 @@ def: "Combined oxidative phosphorylation defect type 4 is a rare mitochondrial d subset: ordo_disease {source="Orphanet:254925"} synonym: "combined oxidative phosphorylation deficiency 4" RELATED [MONDO:Lexical, OMIM:610678] synonym: "combined oxidative phosphorylation deficiency 4; COXPD4" RELATED [OMIM:610678] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in TUFM" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 4" EXACT [MONDORULE:1, OMIM:610678] synonym: "COXPD4" EXACT [MONDO:Lexical, OMIM:610678, Orphanet:254925] +synonym: "TUFM combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: ICD10:E88.8 {source="ORDO:254925/attributed", source="ORDO:254925/ntbt", source="Orphanet:254925"} xref: MESH:C565690 {source="MONDO:equivalentTo"} xref: OMIM:610678 {source="ORDO:254925/e", source="Orphanet:254925", source="MONDO:equivalentTo"} @@ -244301,10 +247123,12 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10055/holopro id: MONDO:0012536 name: osteogenesis imperfecta type 7 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the CRTAP gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CRTAP osteogenesis imperfecta" EXACT [MONDO:design_pattern] synonym: "OI type 7" RELATED [GARD:0008701] synonym: "OI type VII" RELATED [GARD:0008701] synonym: "OI, type 7" RELATED [OMIM:610682] synonym: "OI7" EXACT [DOID:0110337, MONDO:Lexical, OMIM:610682] +synonym: "osteogenesis imperfecta caused by mutation in CRTAP" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type VII" EXACT [DOID:0110337] synonym: "osteogenesis imperfecta, type 7" RELATED [OMIM:610682] synonym: "osteogenesis imperfecta, type IIb" RELATED [OMIM:610682] @@ -244320,7 +247144,7 @@ xref: Orphanet:216812 {source="OMIM:610682", source="MONDO:directSiblingOf"} xref: Orphanet:216820 {source="OMIM:610682", source="MONDO:directSiblingOf"} xref: SCTID:254111008 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.75/0.37/0.62"} xref: UMLS:C1853162 {source="OMIM:610682", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019019 {source="DC-OMIM:610682", source="DOID:0110337", source="MONDO:Entailed", source="OMIM:610682", source="linkedlifedata"} ! osteogenesis imperfecta +is_a: MONDO:0019019 {source="DC-OMIM:610682", source="DOID:0110337", source="MONDO:Entailed", source="OMIM:610682", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteogenesis imperfecta intersection_of: MONDO:0019019 ! osteogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2379 ! CRTAP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2379 {source="mim2gene_medgen"} ! CRTAP @@ -244342,10 +247166,12 @@ property_value: confidence "2.659611992945326" xsd:double id: MONDO:0012538 name: nemaline myopathy 7 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the CFL2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CFL2 nemaline myopathy" EXACT [MONDO:design_pattern] synonym: "NEM7" EXACT [DOID:0110934, MONDO:Lexical, OMIM:610687] synonym: "nemaline myopathy 7" EXACT [MONDO:Lexical, OMIM:610687] synonym: "nemaline myopathy 7, autosomal recessive" EXACT [DOID:0110934] synonym: "nemaline MYOPATHY 7; NEM7" RELATED [OMIM:610687] +synonym: "nemaline myopathy caused by mutation in CFL2" EXACT [MONDO:design_pattern] synonym: "nemaline Myopathy type 7" EXACT [MONDORULE:1, OMIM:610687] synonym: "nemaline myopathy type 7" EXACT [DOID:0110934, MONDORULE:1] xref: DOID:0110934 {source="MONDO:equivalentTo"} @@ -244354,7 +247180,7 @@ xref: OMIM:610687 {source="DOID:0110934", source="MONDO:equivalentTo"} xref: Orphanet:607 {source="OMIM:610687", source="MONDO:subClassOf"} xref: UMLS:C1853154 {source="NCBI:mim2gene_medline", source="OMIM:610687", source="MONDO:equivalentTo"} is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy -is_a: MONDO:0018958 {source="MESH:C565198", source="MONDO:Redundant", source="OMIM:610687"} ! nemaline myopathy +is_a: MONDO:0018958 {source="DOID:0110934", source="MESH:C565198", source="MONDO:Redundant", source="OMIM:610687"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1875 ! CFL2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1875 {source="mim2gene_medgen"} ! CFL2 @@ -244368,7 +247194,9 @@ subset: clingen synonym: "JBTS6" EXACT [DOID:0111001, MONDO:Lexical, OMIM:610688] synonym: "Joubert syndrome 6" EXACT [MONDO:Lexical, OMIM:610688] synonym: "Joubert syndrome 6; JBTS6" RELATED [OMIM:610688] +synonym: "Joubert syndrome caused by mutation in TMEM67" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 6" EXACT [DOID:0111001, MONDORULE:1, OMIM:610688] +synonym: "TMEM67 Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0111001 {source="MONDO:equivalentTo"} xref: MESH:C537689 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610688 {source="DOID:0111001", source="MONDO:equivalentTo"} @@ -244384,7 +247212,9 @@ id: MONDO:0012540 name: age related macular degeneration 4 def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFH gene." [MONDO:patterns/disease_series_by_gene] synonym: "age related macular degeneration type 4" EXACT [DOID:0110017, MONDORULE:1] +synonym: "age-related macular degeneration caused by mutation in CFH" EXACT [MONDO:design_pattern] synonym: "ARMD4" EXACT [DOID:0110017, MONDO:Lexical, OMIM:610698] +synonym: "CFH age-related macular degeneration" EXACT [MONDO:design_pattern] synonym: "macular DEGENERATION, AGE-RELATED, 4" RELATED [MONDO:Lexical, OMIM:610698] synonym: "macular DEGENERATION, AGE-RELATED, 4; ARMD4" RELATED [OMIM:610698] synonym: "macular Degeneration, Age-Related, type 4" EXACT [MONDORULE:1, OMIM:610698] @@ -244422,7 +247252,7 @@ xref: Orphanet:90024 {source="MONDO:equivalentTo", source="OMIM:610706"} xref: SCTID:702360007 {source="MONDO:kboom-pr-1.00/0.75/6.80", source="MONDO:equivalentTo"} xref: UMLS:C1853144 {source="NCBI:mim2gene_medline", source="Orphanet:90024", source="MONDO:equivalentTo", source="OMIM:610706"} xref: UMLS:C2932664 {source="Orphanet:90024", source="ORDO:90024/e"} -is_a: MONDO:0003847 {source="Orphanet:90024/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="Orphanet:90024/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0019589 {source="Orphanet:90024"} ! syndromic genetic deafness relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3681 {source="mim2gene_medgen"} ! FGF3 property_value: confidence "8.6" xsd:double @@ -244449,7 +247279,7 @@ xref: MESH:C537126 {source="MONDO:equivalentTo"} xref: OMIM:610708 {source="MONDO:equivalentTo"} xref: Orphanet:98673 {source="OMIM:610708", source="MONDO:subClassOf"} xref: UMLS:C1853139 {source="OMIM:610708", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003608 {source="MONDO:Redundant", source="OMIM:610708"} ! optic atrophy +is_a: MONDO:0003608 {source="MESH:C537126/inferred", source="MONDO:Redundant", source="OMIM:610708"} ! optic atrophy is_a: MONDO:0008134 {source="ORDO:98673/btnt"} ! autosomal dominant optic atrophy, classic form relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2973 {source="mim2gene_medgen"} ! DNM1L property_value: confidence "12.182750000000004" xsd:double @@ -244499,10 +247329,12 @@ property_value: confidence "3.7222222222222223" xsd:double id: MONDO:0012546 name: nephrotic syndrome, type 3 def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the PLCE1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "nephrotic syndrome caused by mutation in PLCE1" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, early-onset, type 3" RELATED [OMIM:610725] synonym: "nephrotic syndrome, type 3" EXACT [MONDO:Lexical, OMIM:610725] synonym: "nephrotic syndrome, type 3; NPHS3" RELATED [OMIM:610725] synonym: "NPHS3" RELATED [MONDO:Lexical, OMIM:610725] +synonym: "PLCE1 nephrotic syndrome" EXACT [MONDO:design_pattern] xref: OMIM:610725 {source="MONDO:equivalentTo"} xref: UMLS:C1853124 {source="NCBI:mim2gene_medline", source="OMIM:610725", source="MONDO:equivalentTo"} is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:610725"} ! familial nephrotic syndrome @@ -244520,9 +247352,11 @@ def: "Noonan syndrome is a genetic disorder that causes abnormal development of subset: gard_rare {source="GARD:0010699"} synonym: "Noonan syndrome 4" EXACT [MONDO:Lexical, OMIM:610733] synonym: "Noonan syndrome 4; NS4" RELATED [OMIM:610733] +synonym: "Noonan syndrome caused by mutation in SOS1" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome type 4" EXACT [DOID:0060582, MONDORULE:1, OMIM:610733] synonym: "NS4" EXACT [DOID:0060582, MONDO:Lexical, OMIM:610733] synonym: "SOS1 gene related Noonan syndrome" RELATED [GARD:0010699] +synonym: "SOS1 Noonan syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060582 {source="MONDO:equivalentTo"} xref: GARD:0010699 {source="MONDO:equivalentTo"} xref: MESH:C548082 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -244619,8 +247453,10 @@ id: MONDO:0012552 name: multiple endocrine neoplasia type 4 def: "Multiple endocrine neoplasia type 4 (MEN4) is a very rare form of MEN (see this term), an inherited cancer syndrome, characterized by parathyroid and anterior pituitary tumors, possibly associated with adrenal, renal, and reproductive organ tumors." [Orphanet:276152] subset: ordo_disease {source="Orphanet:276152"} +synonym: "CDKN1B multiple endocrine neoplasia" EXACT [MONDO:design_pattern] synonym: "MEN4" EXACT [Orphanet:276152] synonym: "MEN4" RELATED [MONDO:Lexical, OMIM:610755] +synonym: "multiple endocrine neoplasia caused by mutation in CDKN1B" EXACT [MONDO:design_pattern] synonym: "multiple endocrine neoplasia, type 4" RELATED [OMIM:610755] synonym: "multiple endocrine neoplasia, type IV" EXACT [DOID:0080137, MONDO:Lexical, OMIM:610755] synonym: "multiple endocrine neoplasia, type IV; MEN4" RELATED [OMIM:610755] @@ -244647,7 +247483,9 @@ def: "Any COFS syndrome in which the cause of the disease is a mutation in the E synonym: "cerebrooculofacioskeletal syndrome 2" EXACT [MONDO:Lexical, OMIM:610756] synonym: "CEREBROOCULOFACIOSKELETAL syndrome 2; COFS2" RELATED [OMIM:610756] synonym: "cerebrooculofacioskeletal syndrome type 2" EXACT [MONDORULE:1, OMIM:610756] +synonym: "COFS syndrome caused by mutation in ERCC2" EXACT [MONDO:design_pattern] synonym: "COFS2" RELATED [MONDO:Lexical, OMIM:610756] +synonym: "ERCC2 COFS syndrome" EXACT [MONDO:design_pattern] xref: MESH:C565185 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610756 {source="MONDO:equivalentTo"} xref: Orphanet:1466 {source="OMIM:610756", source="MONDO:subClassOf"} @@ -244666,7 +247504,9 @@ def: "Any COFS syndrome in which the cause of the disease is a mutation in the E synonym: "cerebrooculofacioskeletal syndrome 4" EXACT [MONDO:Lexical, OMIM:610758] synonym: "CEREBROOCULOFACIOSKELETAL syndrome 4; COFS4" RELATED [OMIM:610758] synonym: "cerebrooculofacioskeletal syndrome type 4" EXACT [MONDORULE:1, OMIM:610758] +synonym: "COFS syndrome caused by mutation in ERCC1" EXACT [MONDO:design_pattern] synonym: "COFS4" RELATED [MONDO:Lexical, OMIM:610758] +synonym: "ERCC1 COFS syndrome" EXACT [MONDO:design_pattern] xref: MESH:C565184 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610758 {source="MONDO:equivalentTo"} xref: Orphanet:1466 {source="OMIM:610758", source="MONDO:subClassOf"} @@ -244685,7 +247525,9 @@ def: "Any Cornelia de Lange syndrome in which the cause of the disease is a muta synonym: "CDLS3" RELATED [MONDO:Lexical, OMIM:610759] synonym: "Cornelia de Lange syndrome 3" EXACT [MONDO:Lexical, OMIM:610759] synonym: "Cornelia DE Lange syndrome 3; CDLS3" RELATED [OMIM:610759] +synonym: "Cornelia de Lange syndrome caused by mutation in SMC3" EXACT [MONDO:design_pattern] synonym: "Cornelia De Lange syndrome type 3" EXACT [MONDORULE:1, OMIM:610759] +synonym: "SMC3 Cornelia de Lange syndrome" EXACT [MONDO:design_pattern] xref: OMIM:610759 {source="MONDO:equivalentTo"} xref: Orphanet:199 {source="MONDO:subClassOf", source="OMIM:610759"} xref: UMLS:C1853099 {source="NCBI:mim2gene_medline", source="OMIM:610759", source="MONDO:equivalentTo"} @@ -244723,7 +247565,7 @@ xref: Orphanet:91131 {source="OMIM:610768", source="MONDO:equivalentTo"} xref: SCTID:718712005 {source="MONDO:kboom-pr-1.00/0.79/8.54", source="MONDO:equivalentTo"} xref: UMLS:C1835849 {source="NCBI:mim2gene_medline", source="Orphanet:91131", source="OMIM:610768"} is_a: MONDO:0005500 {source="DC-OMIM:610768", source="MONDOLEX:0012556"} ! congenital disorder of glycosylation type I -is_a: MONDO:0015286 {source="MESH:C563666", source="MONDO:0012556/inferred", source="MONDO:Redundant", source="MONDOLEX:0012556/inferred", source="OMIM:610768", source="Orphanet:91131/inferred", source="linkedlifedata"} ! congenital disorder of glycosylation +is_a: MONDO:0015286 {source="MESH:C563666", source="MONDO:0012556/inferred", source="MONDO:Redundant", source="MONDOLEX:0012556/inferred", source="OMIM:610768", source="Orphanet:91131/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital disorder of glycosylation is_a: MONDO:0017274 {source="Orphanet:91131"} ! autosomal ichthyosis syndrome with other associated signs is_a: MONDO:0017749 {source="Orphanet:91131"} ! disorder of multiple glycosylation is_a: MONDO:0018289 {source="Orphanet:91131"} ! congenital disorder of glycosylation with dilated cardiomyopathy @@ -244746,8 +247588,8 @@ xref: Orphanet:91130 {source="OMIM:610773", source="MONDO:equivalentTo"} xref: SCTID:718713000 {source="MONDO:equivalentTo"} xref: UMLS:C1835845 {source="NCBI:mim2gene_medline", source="OMIM:610773", source="Orphanet:91130", source="MONDO:equivalentTo"} xref: UMLS:C4305259 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0006025 {source="linkedlife"} ! autosomal recessive disease -is_a: MONDO:0006040 {source="linkedlife"} ! lactic acidosis +is_a: MONDO:0006025 {source="linkedlifedata"} ! autosomal recessive disease +is_a: MONDO:0006040 {source="linkedlifedata"} ! lactic acidosis is_a: MONDO:0016329 {source="Orphanet:91130"} ! familial syndrome associated with hypertrophic cardiomyopathy is_a: MONDO:0016801 {source="Orphanet:91130"} ! mitochondrial substrate carrier disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10989 {source="mim2gene_medgen"} ! SLC25A3 @@ -244806,13 +247648,15 @@ synonym: "congenital anomalies of kidney and urinary tract 1" RELATED [OMIM:6108 synonym: "congenital anomalies of kidney and urinary tract 1, susceptibility to" EXACT [MONDO:Lexical, OMIM:610805] synonym: "congenital anomalies of kidney and urinary tract 1, susceptibility to; CAKUT1" RELATED [OMIM:610805] synonym: "congenital anomalies OF kidney and urinary tract 1; CAKUT1" RELATED [OMIM:610805] +synonym: "congenital anomaly of kidney and urinary tract caused by mutation in DSTYK" EXACT [MONDO:design_pattern] +synonym: "DSTYK congenital anomaly of kidney and urinary tract" EXACT [MONDO:design_pattern] synonym: "renal hypodysplasia, nonsyndromic, 1" RELATED [OMIM:610805] xref: DOID:0080206 {source="MONDO:equivalentTo"} xref: MESH:C563661 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610805 {source="MONDO:equivalentTo", source="DOID:0080206"} xref: UMLS:C1835826 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:610805"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0019719 {source="OMIM:610805"} ! congenital anomaly of kidney and urinary tract +is_a: MONDO:0019719 {source="DOID:0080206", source="OMIM:610805"} ! congenital anomaly of kidney and urinary tract intersection_of: MONDO:0019719 ! congenital anomaly of kidney and urinary tract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29043 ! DSTYK relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29043 {source="mim2gene_medgen"} ! DSTYK @@ -244823,8 +247667,10 @@ name: holoprosencephaly 7 def: "Any holoprosencephaly in which the cause of the disease is a mutation in the PTCH1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "holoprosencephaly 7" EXACT [MONDO:Lexical, OMIM:610828] synonym: "holoprosencephaly 7; HPE7" RELATED [OMIM:610828] +synonym: "holoprosencephaly caused by mutation in PTCH1" EXACT [MONDO:design_pattern] synonym: "holoprosencephaly type 7" EXACT [DOID:0110876, MONDORULE:1, OMIM:610828] synonym: "HPE7" EXACT [DOID:0110876, MONDO:Lexical, OMIM:610828] +synonym: "PTCH1 holoprosencephaly" EXACT [MONDO:design_pattern] xref: DOID:0110876 {source="MONDO:equivalentTo"} xref: MESH:C563660 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610828 {source="DOID:0110876", source="MONDO:equivalentTo"} @@ -244840,8 +247686,10 @@ property_value: confidence "2.097409750055836" xsd:double id: MONDO:0012563 name: holoprosencephaly 9 def: "Any holoprosencephaly in which the cause of the disease is a mutation in the GLI2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GLI2 holoprosencephaly" EXACT [MONDO:design_pattern] synonym: "holoprosencephaly 9" EXACT [MONDO:Lexical, OMIM:610829] synonym: "holoprosencephaly 9; HPE9" RELATED [OMIM:610829] +synonym: "holoprosencephaly caused by mutation in GLI2" EXACT [MONDO:design_pattern] synonym: "holoprosencephaly type 9" EXACT [DOID:0110873, MONDORULE:1, OMIM:610829] synonym: "holoprosencephaly with microphthalmia and first branchial Arch anomalies" RELATED [OMIM:610829] synonym: "holoprosencephaly with microphthalmia and first branchial arch anomalies" EXACT [DOID:0110873] @@ -244852,7 +247700,7 @@ xref: DOID:0110873 {source="MONDO:equivalentTo"} xref: OMIM:610829 {source="DOID:0110873", source="MONDO:equivalentTo"} xref: Orphanet:2162 {source="OMIM:610829", source="MONDO:subClassOf"} xref: UMLS:C1835819 {source="OMIM:610829", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016296 {source="MONDO:Redundant", source="OMIM:610829"} ! holoprosencephaly +is_a: MONDO:0016296 {source="DOID:0110873", source="MONDO:Redundant", source="OMIM:610829"} ! holoprosencephaly is_a: MONDO:0016355 ! Semilobar holoprosencephaly is_a: MONDO:0017218 ! septopreoptic holoprosencephaly is_a: MONDO:0017219 ! microform holoprosencephaly @@ -244882,10 +247730,12 @@ id: MONDO:0012565 name: Fanconi anemia complementation group N def: "Any Fanconi anemia in which the cause of the disease is a mutation in the PALB2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "FANCN" EXACT [DOID:0111094, MONDO:Lexical, OMIM:610832] +synonym: "Fanconi anemia caused by mutation in PALB2" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type N" EXACT [DOID:0111094, MONDORULE:1] synonym: "FANCONI ANEMIA, complementation group N" RELATED [MONDO:Lexical, OMIM:610832] synonym: "FANCONI ANEMIA, complementation group N; FANCN" RELATED [OMIM:610832] synonym: "Fanconi Anemia, complementation group type N" EXACT [MONDORULE:1, OMIM:610832] +synonym: "PALB2 Fanconi anemia" EXACT [MONDO:design_pattern] xref: DOID:0111094 {source="MONDO:equivalentTo"} xref: MESH:C563657 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610832 {source="DOID:0111094", source="MONDO:equivalentTo"} @@ -244974,6 +247824,8 @@ synonym: "CILD6" EXACT [DOID:0110606, MONDO:Lexical, OMIM:610852] synonym: "ciliary dyskinesia, primary, 6" RELATED [MONDO:Lexical, OMIM:610852] synonym: "ciliary dyskinesia, primary, 6; CILD6" RELATED [OMIM:610852] synonym: "ciliary dyskinesia, primary, type 6" EXACT [MONDORULE:1, OMIM:610852] +synonym: "NME8 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] +synonym: "primary ciliary dyskinesia caused by mutation in NME8" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 6" EXACT [DOID:0110606, MONDORULE:1] xref: DOID:0110606 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110606"} @@ -245054,9 +247906,11 @@ id: MONDO:0012575 name: branchiootorenal syndrome 2 def: "Any branchio-oto-renal syndrome in which the cause of the disease is a mutation in the SIX5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BOR2" RELATED [MONDO:Lexical, OMIM:610896] +synonym: "branchio-oto-renal syndrome caused by mutation in SIX5" EXACT [MONDO:design_pattern] synonym: "branchiootorenal syndrome 2" EXACT [MONDO:Lexical, OMIM:610896] synonym: "branchiootorenal syndrome 2; BOR2" RELATED [OMIM:610896] synonym: "branchiootorenal syndrome type 2" EXACT [MONDORULE:1, OMIM:610896] +synonym: "SIX5 branchio-oto-renal syndrome" EXACT [MONDO:design_pattern] xref: OMIM:610896 {source="MONDO:equivalentTo"} xref: Orphanet:107 {source="OMIM:610896", source="MONDO:subClassOf"} xref: UMLS:C1970479 {source="NCBI:mim2gene_medline", source="OMIM:610896", source="MONDO:equivalentTo"} @@ -245161,7 +248015,7 @@ xref: Orphanet:217566 {source="OMIM:610913", source="MONDO:superClassOf"} xref: Orphanet:264675 {source="GARD:0004582", source="OMIM:610913", source="MONDO:equivalentTo"} xref: SCTID:707442002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C2931035 {source="GARD:0004582", source="Orphanet:264675", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo", source="ORDO:264675/e"} -is_a: MONDO:0001437 {source="MONDO:Entailed", source="MONDO:cjm"} ! pulmonary alveolar proteinosis +is_a: MONDO:0001437 {source="MESH:C535832", source="MONDO:Entailed", source="MONDO:cjm"} ! pulmonary alveolar proteinosis is_a: MONDO:0003847 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:264675/inferred", source="linkedlifedata"} ! inherited genetic disease is_a: MONDO:0015052 {source="Orphanet:264675"} ! primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies is_a: MONDO:0015133 {source="Orphanet:264675"} ! quantitative and/or qualitative congenital phagocyte defect @@ -245177,10 +248031,12 @@ def: "Any osteogenesis imperfecta in which the cause of the disease is a mutatio synonym: "OI type VIII" RELATED [GARD:0010152] synonym: "OI, type 8" RELATED [OMIM:610915] synonym: "OI8" EXACT [DOID:0110336, MONDO:Lexical, OMIM:610915] +synonym: "osteogenesis imperfecta caused by mutation in P3H1" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type VIII" EXACT [DOID:0110336] synonym: "osteogenesis imperfecta, type 8" RELATED [OMIM:610915] synonym: "osteogenesis imperfecta, type VIII" RELATED [MONDO:Lexical, OMIM:610915] synonym: "osteogenesis imperfecta, type VIII; OI8" RELATED [OMIM:610915] +synonym: "P3H1 osteogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110336 {source="MONDO:equivalentTo"} xref: GARD:0010152 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:Q78.0 {source="DOID:0110336", source="MONDO:subClassOf"} @@ -245256,7 +248112,9 @@ property_value: confidence "5.0" xsd:double id: MONDO:0012585 name: coronary heart disease, susceptibility to, 7 def: "Any coronary artery disease in which the cause of the disease is a mutation in the CD36 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CD36 coronary artery disease" EXACT [MONDO:design_pattern] synonym: "CHDS7" RELATED [MONDO:Lexical, OMIM:610938] +synonym: "coronary artery disease caused by mutation in CD36" EXACT [MONDO:design_pattern] synonym: "coronary heart disease, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:610938] synonym: "coronary heart disease, susceptibility to, 7; CHDS7" RELATED [OMIM:610938] synonym: "coronary heart disease, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:610938] @@ -245275,10 +248133,12 @@ id: MONDO:0012586 name: coronary artery disease, autosomal dominant 2 def: "Any coronary artery disease in which the cause of the disease is a mutation in the LRP6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ADCAD2" RELATED [MONDO:Lexical, OMIM:610947] +synonym: "coronary artery disease caused by mutation in LRP6" EXACT [MONDO:design_pattern] synonym: "coronary artery disease, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:610947] synonym: "coronary artery disease, autosomal dominant 2; ADCAD2" RELATED [OMIM:610947] synonym: "coronary artery disease, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:610947] synonym: "LDL receptor related protein 6" RELATED [Orphanet:159752] +synonym: "LRP6 coronary artery disease" EXACT [MONDO:design_pattern] xref: MESH:C567045 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:610947 {source="MONDO:equivalentTo"} xref: Orphanet:159752 {source="MONDO:equivalentTo"} @@ -245313,6 +248173,8 @@ synonym: "ceroid lipofuscinosis, neuronal, type 7" EXACT [MONDORULE:1, OMIM:6109 synonym: "CLN7" EXACT [DOID:0110722, MONDO:Lexical, OMIM:610951] synonym: "CLN7 disease" RELATED [GARD:0001220] synonym: "CLN7 disease, late infantile" RELATED [GARD:0001220] +synonym: "MFSD8 neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern] +synonym: "neuronal ceroid lipofuscinosis caused by mutation in MFSD8" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 7" EXACT [DOID:0110722, MONDORULE:1] xref: DOID:0110722 {source="MONDO:equivalentTo"} xref: GARD:0001220 {source="MONDO:equivalentTo"} @@ -245323,7 +248185,7 @@ xref: Orphanet:168491 {source="OMIM:610951", source="MONDO:subClassOf"} xref: Orphanet:228366 {source="OMIM:610951", source="DOID:0110722", source="MONDO:equivalentTo"} xref: UMLS:C1838571 {source="Orphanet:228366", source="NCBI:mim2gene_medline", source="OMIM:610951"} is_a: MONDO:0015674 {source="Orphanet:228366"} ! late infantile neuronal ceroid lipofuscinosis -is_a: MONDO:0016295 {source="MONDO:Redundant", source="OMIM:610951", source="Orphanet:228366/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID:0110722", source="MONDO:Redundant", source="OMIM:610951", source="Orphanet:228366/inferred"} ! neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28486 ! MFSD8 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28486 {source="mim2gene_medgen"} ! MFSD8 @@ -245353,7 +248215,7 @@ xref: OMIM:610954 {source="Orphanet:2896", source="ORDO:2896/e", source="DOID:00 xref: Orphanet:2896 {source="OMIM:610954", source="DOID:0060488", source="MONDO:equivalentTo"} xref: SCTID:702344008 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="DOID:0060488", source="MONDO:equivalentTo"} xref: UMLS:C1970431 {source="NCBI:mim2gene_medline", source="OMIM:610954", source="Orphanet:2896", source="ORDO:2896/e", source="DOID:0060488", source="NCIT:C129872", source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C129872"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060488", source="MONDO:Redundant", source="NCIT:C129872"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2896"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:2896"} ! rare syndromic intellectual disability is_a: MONDO:0015653 {source="Orphanet:2896"} ! monogenic disease with epilepsy @@ -245387,11 +248249,13 @@ id: MONDO:0012591 name: osteogenesis imperfecta type 5 def: "Osteogenesis imperfecta type V is a moderate type of osteogenesis imperfecta (OI; see this term), a genetic disorder characterized by increased bone fragility, low bone mass and susceptibility to bone fractures with variable severity. OI type V is characterized by mild to moderate short stature, dislocation of the radial head, mineralized interosseous membranes, hyperplasic callus, white sclera and no dentinogenesis imperfecta (DI; see this term)." [Orphanet:216828] subset: ordo_clinical_subtype {source="Orphanet:216828"} +synonym: "IFITM5 osteogenesis imperfecta" EXACT [MONDO:design_pattern] synonym: "OI type 5" EXACT [Orphanet:216828] synonym: "OI type V" RELATED [GARD:0008699] synonym: "OI with calcification in interosseous membranes" RELATED [GARD:0008699] synonym: "OI, type 5" RELATED [OMIM:610967] synonym: "OI5" EXACT [DOID:0110344, MONDO:Lexical, OMIM:610967] +synonym: "osteogenesis imperfecta caused by mutation in IFITM5" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type V" EXACT [DOID:0110344] synonym: "osteogenesis imperfecta, type 5" RELATED [OMIM:610967] synonym: "osteogenesis imperfecta, type V" RELATED [MONDO:Lexical, OMIM:610967] @@ -245416,10 +248280,12 @@ property_value: confidence "1.2566407969820799" xsd:double id: MONDO:0012592 name: osteogenesis imperfecta type 11 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the FKBP10 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FKBP10 osteogenesis imperfecta" EXACT [MONDO:design_pattern] synonym: "OI type 11" RELATED [GARD:0012875] synonym: "OI type XI" RELATED [GARD:0012875] synonym: "OI, type 11" RELATED [OMIM:610968] synonym: "OI11" EXACT [DOID:0110351, MONDO:Lexical, OMIM:610968] +synonym: "osteogenesis imperfecta caused by mutation in FKBP10" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type XI" EXACT [DOID:0110351] synonym: "osteogenesis imperfecta, type 11" RELATED [OMIM:610968] synonym: "osteogenesis imperfecta, type XI" RELATED [MONDO:Lexical, OMIM:610968] @@ -245495,11 +248361,13 @@ property_value: confidence "3.2857142857142847" xsd:double id: MONDO:0012595 name: leprosy, susceptibility to, 4 def: "Any leprosy in which the cause of the disease is a mutation in the LTA gene." [MONDO:patterns/disease_series_by_gene] +synonym: "leprosy caused by mutation in LTA" EXACT [MONDO:design_pattern] synonym: "leprosy, early-onset, susceptibility to" RELATED [OMIM:610988] synonym: "leprosy, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:610988] synonym: "leprosy, susceptibility to, 4; LPRS4" RELATED [OMIM:610988] synonym: "leprosy, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:610988] synonym: "LPRS4" RELATED [MONDO:Lexical, OMIM:610988] +synonym: "LTA leprosy" EXACT [MONDO:design_pattern] synonym: "susceptibility to leprosy 4" RELATED [OMIM:610988] xref: OMIM:610988 {source="MONDO:equivalentTo"} xref: Orphanet:548 {source="MONDO:subClassOf", source="OMIM:610988"} @@ -245604,11 +248472,13 @@ id: MONDO:0012602 name: autosomal recessive nonsyndromic deafness 24 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RDX gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 24" EXACT [DOID:0110482] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in RDX" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 24" EXACT [DOID:0110482, MONDORULE:2] synonym: "deafness, autosomal recessive 24" RELATED [MONDO:Lexical, OMIM:611022] synonym: "deafness, autosomal recessive 24; DFNB24" RELATED [OMIM:611022] synonym: "deafness, autosomal recessive type 24" EXACT [MONDORULE:2, OMIM:611022] synonym: "DFNB24" EXACT [DOID:0110482, MONDO:Lexical, OMIM:611022] +synonym: "RDX autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110482 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110482"} xref: MESH:C567027 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -245634,7 +248504,7 @@ xref: MESH:C567026 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611031 {source="DOID:0090054", source="MONDO:equivalentTo"} xref: Orphanet:98809 {source="MONDO:directSiblingOf", source="DOID:0090054", source="MONDO:subClassOf", source="OMIM:611031"} xref: UMLS:C1970238 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611031"} -is_a: MONDO:0003441 {source="OMIM:611031"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090054", source="OMIM:611031"} ! dystonic disorder is_a: MONDO:0044202 {source="OMIM:611031"} ! episodic kinesigenic dyskinesia property_value: confidence "1.5578947368421052" xsd:double @@ -245642,11 +248512,13 @@ property_value: confidence "1.5578947368421052" xsd:double id: MONDO:0012604 name: isolated microphthalmia 3 def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the RAX gene." [MONDO:patterns/disease_series_by_gene] +synonym: "isolated microphthalmia caused by mutation in RAX" EXACT [MONDO:design_pattern] synonym: "isolated microphthalmia type 3" EXACT [DOID:0060842, MONDORULE:1] synonym: "MCOP3" EXACT [DOID:0060842, MONDO:Lexical, OMIM:611038] synonym: "microphthalmia, isolated 3" RELATED [MONDO:Lexical, OMIM:611038] synonym: "microphthalmia, isolated 3; MCOP3" RELATED [OMIM:611038] synonym: "microphthalmia, isolated type 3" EXACT [MONDORULE:1, OMIM:611038] +synonym: "RAX isolated microphthalmia" EXACT [MONDO:design_pattern] xref: DOID:0060842 {source="MONDO:equivalentTo"} xref: ICD10:Q11.0 {source="DOID:0060842"} xref: MESH:C567025 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -245665,8 +248537,10 @@ id: MONDO:0012605 name: isolated microphthalmia 5 def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:251279"} +synonym: "isolated microphthalmia caused by mutation in MFRP" EXACT [MONDO:design_pattern] synonym: "isolated microphthalmia type 5" EXACT [DOID:0060837, MONDORULE:1] synonym: "MCOP5" EXACT [DOID:0060837, MONDO:Lexical, OMIM:611040] +synonym: "MFRP isolated microphthalmia" EXACT [MONDO:design_pattern] synonym: "microphthalmia, isolated 5" RELATED [MONDO:Lexical, OMIM:611040] synonym: "microphthalmia, isolated 5; MCOP5" RELATED [OMIM:611040] synonym: "microphthalmia, isolated type 5" EXACT [MONDORULE:1, OMIM:611040] @@ -245703,6 +248577,8 @@ def: "Any inherited susceptibility to asthma in which the cause of the disease i synonym: "Asrt5" RELATED [OMIM:611064] synonym: "asthma-related traits, susceptibility to, 5" EXACT [OMIM:611064] synonym: "asthma-Related traits, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:611064] +synonym: "inherited susceptibility to asthma caused by mutation in IRAK3" EXACT [MONDO:design_pattern] +synonym: "IRAK3 inherited susceptibility to asthma" EXACT [MONDO:design_pattern] xref: OMIM:611064 {source="MONDO:equivalentTo"} xref: UMLS:C1970224 {source="NCBI:mim2gene_medline", source="OMIM:611064"} is_a: MONDO:0010940 {source="MONDO:cjm", source="MONDOLEX:0012607"} ! inherited susceptibility to asthma @@ -245759,11 +248635,13 @@ property_value: confidence "1.7975949917804632" xsd:double id: MONDO:0012610 name: inflammatory bowel disease 10 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ATG16L1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ATG16L1 inflammatory bowel disease" EXACT [MONDO:design_pattern] synonym: "IBD10" EXACT [DOID:0110885, MONDO:Lexical, OMIM:611081] synonym: "inflammatory bowel disease (Crohn disease) 10" EXACT [DOID:0110885] synonym: "inflammatory bowel disease (Crohn disease) 10; IBD10" RELATED [OMIM:611081] synonym: "inflammatory bowel disease 10" EXACT [MONDO:Lexical, OMIM:611081] synonym: "inflammatory bowel disease 10; IBD10" RELATED [OMIM:611081] +synonym: "inflammatory bowel disease caused by mutation in ATG16L1" EXACT [MONDO:design_pattern] synonym: "inflammatory bowel disease type 10" EXACT [DOID:0110885, MONDORULE:2, OMIM:611081] xref: DOID:0110885 {source="MONDO:equivalentTo"} xref: MESH:C567021 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -245817,10 +248695,12 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0012613 name: intellectual disability, autosomal recessive 5 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NSUN2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in NSUN2" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 5" RELATED [MONDO:Lexical, OMIM:611091] synonym: "mental retardation, autosomal recessive 5; MRT5" RELATED [OMIM:611091] synonym: "mental retardation, autosomal recessive type 5" EXACT [MONDORULE:1, OMIM:611091] synonym: "MRT5" RELATED [MONDO:Lexical, OMIM:611091] +synonym: "NSUN2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] xref: MESH:C567018 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611091 {source="MONDO:equivalentTo"} xref: UMLS:C1970199 {source="NCBI:mim2gene_medline", source="OMIM:611091", source="MONDO:equivalentTo"} @@ -245834,6 +248714,8 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0012614 name: intellectual disability, autosomal recessive 6 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIK2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in GRIK2" EXACT [MONDO:design_pattern] +synonym: "GRIK2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 6" RELATED [MONDO:Lexical, OMIM:611092] synonym: "mental retardation, autosomal recessive 6; MRT6" RELATED [OMIM:611092] synonym: "mental retardation, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:611092] @@ -245851,11 +248733,13 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0012615 name: intellectual disability, autosomal recessive 7 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TUSC3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TUSC3" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 22" RELATED [OMIM:611093] synonym: "mental retardation, autosomal recessive 7" RELATED [MONDO:Lexical, OMIM:611093] synonym: "mental retardation, autosomal recessive 7; MRT7" RELATED [OMIM:611093] synonym: "mental retardation, autosomal recessive type 7" EXACT [MONDORULE:1, OMIM:611093] synonym: "MRT7" RELATED [MONDO:Lexical, OMIM:611093] +synonym: "TUSC3 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] xref: MESH:C567016 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611093 {source="MONDO:equivalentTo"} xref: Orphanet:88616 {source="MONDO:subClassOf", source="OMIM:611093"} @@ -246025,8 +248909,10 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0012625 name: retinitis pigmentosa 37 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NR2E3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "NR2E3 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 37" EXACT [MONDO:Lexical, OMIM:611131] synonym: "retinitis pigmentosa 37; RP37" RELATED [OMIM:611131] +synonym: "retinitis pigmentosa caused by mutation in NR2E3" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 37" EXACT [DOID:0110399, MONDORULE:2, OMIM:611131] synonym: "RP37" EXACT [DOID:0110399, MONDO:Lexical, OMIM:611131] xref: DOID:0110399 {source="MONDO:equivalentTo"} @@ -246044,7 +248930,9 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/79 id: MONDO:0012626 name: Meckel syndrome, type 4 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CEP290 Meckel syndrome" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome 4" RELATED [DOID:0070118] +synonym: "Meckel syndrome caused by mutation in CEP290" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 4" EXACT [MONDO:Lexical, OMIM:611134] synonym: "MECKEL syndrome, type 4; MKS4" RELATED [OMIM:611134] synonym: "Meckel-Gruber syndrome, type 4" EXACT [DOID:0070118] @@ -246073,6 +248961,8 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, 13" EXACT [MONDO: synonym: "epilepsy, idiopathic generalized, susceptibility to, 13; EIG13" RELATED [OMIM:611136] synonym: "epilepsy, idiopathic generalized, susceptibility to, type 13" EXACT [MONDORULE:2, OMIM:611136] synonym: "epilepsy, juvenile myoclonic, susceptibility to, 5" RELATED [OMIM:611136] +synonym: "GABRA1 juvenile myoclonic epilepsy" EXACT [MONDO:design_pattern] +synonym: "juvenile myoclonic epilepsy caused by mutation in GABRA1" EXACT [MONDO:design_pattern] synonym: "susceptibility to idiopathic generalized epilepsy 13" RELATED [OMIM:611136] xref: MESH:C567002 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611136 {source="MONDO:equivalentTo"} @@ -246080,7 +248970,7 @@ xref: Orphanet:307 {source="OMIM:611136", source="MONDO:subClassOf", source="MON xref: Orphanet:64280 {source="OMIM:611136", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: UMLS:C1970160 {source="OMIM:611136"} xref: UMLS:C2749942 {source="NCBI:mim2gene_medline", source="OMIM:611136"} -is_a: MONDO:0005579 {source="DC-OMIM:611136"} ! generalised epilepsy +is_a: MONDO:0005579 {source="DC-OMIM:611136", source="MESH:C567002/inferred"} ! generalised epilepsy is_a: MONDO:0009696 ! juvenile myoclonic epilepsy intersection_of: MONDO:0009696 ! juvenile myoclonic epilepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4075 ! GABRA1 @@ -246113,7 +249003,7 @@ xref: MESH:C567001 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611147 {source="DOID:0090047", source="MONDO:equivalentTo"} xref: Orphanet:98810 {source="DOID:0090047", source="OMIM:611147", source="MONDO:subClassOf"} xref: UMLS:C1970149 {source="NCBI:mim2gene_medline", source="OMIM:611147", source="MONDO:equivalentTo"} -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:611147"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090047", source="MONDO:Redundant", source="OMIM:611147"} ! dystonic disorder is_a: MONDO:0007326 {source="ORDO:98810/btnt"} ! paroxysmal nonkinesigenic dyskinesia 1 property_value: confidence "1.486842105263158" xsd:double @@ -246199,7 +249089,7 @@ name: COG8-CDG def: "The CDG (Congenital Disorders of Glycosylation) syndromes are a group of autosomal recessive disorders affecting glycoprotein synthesis. CDG syndrome type IIh is characterised by severe psychomotor retardation, failure to thrive and intolerance to wheat and dairy products." [Orphanet:95428] subset: ordo_disease {source="Orphanet:95428"} synonym: "carbohydrate deficient glycoprotein syndrome type IIh" EXACT [Orphanet:95428] -synonym: "CDG Iih" RELATED [OMIM:611182] +synonym: "CDG IIh" RELATED [OMIM:611182] synonym: "CDG syndrome type IIh" EXACT [Orphanet:95428] synonym: "CDG-IIh" EXACT [Orphanet:95428] synonym: "CDG2H" EXACT [MONDO:Lexical, OMIM:611182, Orphanet:95428] @@ -246305,8 +249195,10 @@ id: MONDO:0012639 name: hereditary spastic paraplegia 18 def: "gene (8p11.2) encoding the protein, Erlin-2." [Orphanet:209951] subset: ordo_disease {source="Orphanet:209951"} +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ERLIN2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 18" EXACT [DOID:0110771] synonym: "autosomal recessive spastic paraplegia type 18" EXACT [DOID:0110771] +synonym: "ERLIN2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 18" EXACT [DOID:0110771, MONDORULE:2] synonym: "IDMDC" EXACT [DOID:0110771] synonym: "intellectual disability, motor dysfunction and joint contractures" EXACT [DOID:0110771] @@ -246323,7 +249215,7 @@ xref: OMIM:611225 {source="DOID:0110771", source="Orphanet:209951", source="ORDO xref: Orphanet:209951 {source="DOID:0110771", source="OMIM:611225", source="MONDO:equivalentTo"} xref: UMLS:C2749936 {source="NCBI:mim2gene_medline", source="OMIM:611225", source="Orphanet:209951", source="ORDO:209951/e"} is_a: MONDO:0015089 {source="Orphanet:209951"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:611225", source="Orphanet:209951/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110771", source="MESH:C567628", source="MONDO:Redundant", source="OMIM:611225", source="Orphanet:209951/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1356 ! ERLIN2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1356 {source="mim2gene_medgen"} ! ERLIN2 @@ -246336,10 +249228,12 @@ def: "Charcot-Marie-Tooth disease, type 4J (CMT4J) belongs to the genetically he subset: gard_rare {source="GARD:0012443"} subset: ordo_disease {source="Orphanet:139515"} synonym: "autosomal recessive Charcot-Marie-Tooth disease type 4J" EXACT [DOID:0110184] +synonym: "Charcot-Marie-tooth disease type 4 caused by mutation in FIG4" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, autosomal recessive, type 4J" RELATED [OMIM:611228] synonym: "Charcot-Marie-Tooth disease, type 4J" RELATED [GARD:0012443, MONDO:Lexical, OMIM:611228] synonym: "Charcot-Marie-Tooth disease, type 4J; CMT4J" RELATED [OMIM:611228] synonym: "CMT4J" EXACT [DOID:0110184, MONDO:Lexical, OMIM:611228, Orphanet:139515] +synonym: "FIG4 Charcot-Marie-tooth disease type 4" EXACT [MONDO:design_pattern] xref: DOID:0110184 {source="MONDO:equivalentTo"} xref: GARD:0012443 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="ORDO:139515/ntbt", source="Orphanet:139515", source="ORDO:139515/attributed", source="DOID:0110184"} @@ -246349,7 +249243,7 @@ xref: OMIM:611228 {source="Orphanet:139515", source="ORDO:139515/e", source="MON xref: Orphanet:139515 {source="OMIM:611228", source="MONDO:equivalentTo", source="DOID:0110184"} xref: SCTID:720638000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1970011 {source="NCBI:mim2gene_medline", source="Orphanet:139515", source="NCIT:C134954", source="OMIM:611228", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C566984", source="MONDO:Redundant", source="NCIT:C134954", source="OMIM:611228", source="Orphanet:139515/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110184/inferred", source="MESH:C566984", source="MONDO:Redundant", source="NCIT:C134954", source="OMIM:611228", source="Orphanet:139515/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018995 {source="DOID:0110184", source="Orphanet:139515", source="linkedlifedata"} ! Charcot-Marie-tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-tooth disease type 4 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16873 ! FIG4 @@ -246381,7 +249275,7 @@ xref: MESH:C567073 {source="MONDO:equivalentTo"} xref: OMIM:611247 {source="MONDO:equivalentTo"} xref: UMLS:C1970943 {source="NCBI:mim2gene_medline", source="OMIM:611247"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0004985 {source="DC-OMIM:611247", source="MONDO:cjm"} ! bipolar disorder +is_a: MONDO:0004985 {source="DC-OMIM:611247", source="MESH:C567073", source="MONDO:cjm"} ! bipolar disorder [Term] id: MONDO:0012643 @@ -246404,7 +249298,7 @@ xref: Orphanet:171622 {source="DOID:0110783", source="MONDO:equivalentTo", sourc xref: UMLS:C1970009 {source="NCBI:mim2gene_medline", source="ORDO:171622/e", source="Orphanet:171622", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="OMIM:611252"} xref: UMLS:C4511958 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:171622"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:611252", source="Orphanet:171622/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110783", source="MESH:C566983", source="MONDO:Redundant", source="OMIM:611252", source="Orphanet:171622/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.611111111111114" xsd:double [Term] @@ -246414,6 +249308,8 @@ def: "Any Jeune syndrome in which the cause of the disease is a mutation in the synonym: "asphyxiating thoracic dystrophy 2" EXACT [OMIM:611263] synonym: "asphyxiating thoracic dystrophy type 2" EXACT [DOID:0110086, MONDORULE:1] synonym: "ATD2" EXACT [DOID:0110086] +synonym: "IFT80 Jeune syndrome" EXACT [MONDO:design_pattern] +synonym: "Jeune syndrome caused by mutation in IFT80" EXACT [MONDO:design_pattern] synonym: "short-rib thoracic dysplasia 2 with or without polydactyly" EXACT [DOID:0110086] synonym: "short-rib thoracic dysplasia 2 with or without polydactyly" RELATED [MONDO:Lexical, OMIM:611263] synonym: "short-rib thoracic dysplasia 2 with or without polydactyly; SRTD2" RELATED [OMIM:611263] @@ -246453,7 +249349,7 @@ xref: MESH:C566976 {source="MONDO:equivalentTo"} xref: OMIM:611276 {source="MONDO:equivalentTo"} xref: UMLS:C1969811 {source="OMIM:611276", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="MONDO:Redundant"} ! inherited genetic disease -is_a: MONDO:0005338 ! open-angle glaucoma +is_a: MONDO:0005338 {source="MESH:C566976"} ! open-angle glaucoma property_value: confidence "0.6519518666964457" xsd:double [Term] @@ -246461,8 +249357,10 @@ id: MONDO:0012647 name: generalized epilepsy with febrile seizures plus, type 3 def: "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the GABRG2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "febrile seizures, familial, 8" RELATED [OMIM:611277] +synonym: "GABRG2 generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern] synonym: "Gefs+, type 3" RELATED [OMIM:611277] synonym: "GEFSP3" RELATED [MONDO:Lexical, OMIM:611277] +synonym: "generalized epilepsy with febrile seizures plus caused by mutation in GABRG2" EXACT [MONDO:design_pattern] synonym: "generalized epilepsy with febrile seizures plus, type 3" EXACT [MONDO:Lexical, OMIM:611277] synonym: "generalized epilepsy with febrile seizures plus, type 3; GEFSP3" RELATED [OMIM:611277] xref: MESH:C565811 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -246549,8 +249447,10 @@ def: "Autosomal recessive spastic paraplegia type 58 is a rare, complex subtype subset: ordo_disease {source="Orphanet:397946"} synonym: "autosomal recessive spastic ataxia type 2" EXACT [Orphanet:397946] synonym: "autosomal recessive spastic paraplegia type 58" RELATED [Orphanet:397946] +synonym: "KIF1C spastic ataxia" EXACT [MONDO:design_pattern] synonym: "spastic ataxia 2, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611302] synonym: "spastic ataxia 2, autosomal recessive; SPAX2" RELATED [OMIM:611302] +synonym: "spastic ataxia caused by mutation in KIF1C" EXACT [MONDO:design_pattern] synonym: "spastic ataxia type 2" EXACT [DOID:0050941, MONDORULE:1] synonym: "SPAX2" EXACT [MONDO:Lexical, OMIM:611302, Orphanet:397946] synonym: "SPG58" EXACT [Orphanet:397946] @@ -246561,7 +249461,7 @@ xref: OMIM:611302 {source="ORDO:397946/e", source="DOID:0050941", source="MONDO: xref: Orphanet:397946 {source="OMIM:611302", source="MONDO:equivalentTo"} xref: UMLS:C1969796 {source="NCBI:mim2gene_medline", source="OMIM:611302", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:397946"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0017845 {source="MONDO:Redundant", source="OMIM:611302"} ! spastic ataxia +is_a: MONDO:0017845 {source="DOID:0050941", source="MONDO:Redundant", source="OMIM:611302"} ! spastic ataxia intersection_of: MONDO:0017845 ! spastic ataxia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6317 ! KIF1C relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6317 {source="mim2gene_medgen"} ! KIF1C @@ -246572,6 +249472,8 @@ id: MONDO:0012652 name: autosomal recessive limb-girdle muscular dystrophy type 2L def: "Autosomal recessive limb-girdle muscular dystrophy type 2L (LGMD2L) is a form of limb-girdle muscular dystrophy most often characterized by an adult onset (but ranging from 11 to 51 years) of mainly proximal lower limb weakness, with difficulties standing on tiptoes being one of the initial signs. Proximal upper limb and distal lower limb weakness is also common as well as atrophy of the quadriceps (most commonly), biceps brachii, and lower leg muscles. However, calf hypertrophy has also been reported in some cases. LGMD2L progresses slowly, with most patients remaining ambulatory until late adulthood." [Orphanet:206549] subset: ordo_disease {source="Orphanet:206549"} +synonym: "ANO5 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ANO5" EXACT [MONDO:design_pattern] synonym: "LGMD2L" EXACT [DOID:0110284, Orphanet:206549] synonym: "LGMD2L" RELATED [MONDO:Lexical, OMIM:611307] synonym: "limb-girdle muscular dystrophy type 2L" RELATED [GARD:0012536] @@ -246609,10 +249511,12 @@ name: atrial heart septal defect 4 def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the TBX20 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ASD4" EXACT [DOID:0110109] synonym: "ASD4" RELATED [MONDO:Lexical, OMIM:611363] +synonym: "atrial heart septal defect caused by mutation in TBX20" EXACT [MONDO:design_pattern] synonym: "atrial heart septal defect type 4" EXACT [DOID:0110109, MONDORULE:1] synonym: "atrial septal defect 4" EXACT [DOID:0110109, MONDO:Lexical, OMIM:611363] synonym: "atrial septal defect 4; ASD4" RELATED [OMIM:611363] synonym: "atrial septal defect type 4" EXACT [MONDORULE:1, OMIM:611363] +synonym: "TBX20 atrial heart septal defect" EXACT [MONDO:design_pattern] xref: DOID:0110109 {source="MONDO:equivalentTo"} xref: ICD10:Q21.1 {source="DOID:0110109"} xref: MESH:C566963 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -246647,8 +249551,10 @@ synonym: "Israeli Bedouin type B multiple contracture syndrome" EXACT [DOID:0060 synonym: "LCCS3" EXACT [MONDO:Lexical, OMIM:611369, Orphanet:137783] synonym: "lethal congenital contracture syndrome 3" EXACT [MONDO:Lexical, OMIM:611369] synonym: "lethal congenital contracture syndrome 3; LCCS3" RELATED [OMIM:611369] +synonym: "lethal congenital contracture syndrome caused by mutation in PIP5K1C" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 3" EXACT [DOID:0060653, MONDORULE:1, OMIM:611369] synonym: "multiple contracture syndrome, Israeli Bedouin type B" RELATED [OMIM:611369] +synonym: "PIP5K1C lethal congenital contracture syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060653 {source="MONDO:equivalentTo"} xref: GARD:0012644 {source="MONDO:equivalentTo"} xref: ICD10:Q68.8 {source="ORDO:137783/ntbt", source="ORDO:137783/attributed", source="Orphanet:137783", source="DOID:0060653"} @@ -246706,7 +249612,9 @@ id: MONDO:0012659 name: age related macular degeneration 9 def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the C3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "age related macular degeneration type 9" EXACT [DOID:0110021, MONDORULE:1] +synonym: "age-related macular degeneration caused by mutation in C3" EXACT [MONDO:design_pattern] synonym: "ARMD9" EXACT [DOID:0110021, MONDO:Lexical, OMIM:611378] +synonym: "C3 age-related macular degeneration" EXACT [MONDO:design_pattern] synonym: "C3a" EXACT [Orphanet:160064] synonym: "C3a anaphylatoxin" EXACT [Orphanet:160064] synonym: "C3b" EXACT [Orphanet:160064] @@ -246757,10 +249665,12 @@ id: MONDO:0012662 name: Usher syndrome type 2D def: "Any Usher syndrome in which the cause of the disease is a mutation in the WHRN gene." [MONDO:patterns/disease_series_by_gene] synonym: "USH2D" EXACT [DOID:0110840, MONDO:Lexical, OMIM:611383] +synonym: "Usher syndrome caused by mutation in WHRN" EXACT [MONDO:design_pattern] synonym: "Usher syndrome type IID" EXACT [DOID:0110840] synonym: "Usher syndrome, type 2D" RELATED [OMIM:611383] synonym: "USHER syndrome, type IID" RELATED [MONDO:Lexical, OMIM:611383] synonym: "USHER syndrome, type IID; USH2D" RELATED [OMIM:611383] +synonym: "WHRN Usher syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110840 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110840", source="MONDO:relatedTo"} xref: OMIM:611383 {source="DOID:0110840", source="MONDO:equivalentTo"} @@ -246768,7 +249678,7 @@ xref: Orphanet:231178 {source="MONDO:subClassOf", source="OMIM:611383"} xref: Orphanet:886 {source="MONDO:subClassOf", source="OMIM:611383"} xref: UMLS:C1568249 {source="NCBI:mim2gene_medline", source="OMIM:611383"} is_a: MONDO:0016484 {source="DOID:0110840", source="MONDOLEX:0012662"} ! Usher syndrome type 2 -is_a: MONDO:0019501 {source="MONDO:Redundant", source="OMIM:611383"} ! Usher syndrome +is_a: MONDO:0019501 {source="DOID:0110840/inferred", source="MONDO:Redundant", source="OMIM:611383"} ! Usher syndrome intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16361 ! WHRN relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16361 {source="mim2gene_medgen"} ! WHRN @@ -246791,8 +249701,10 @@ name: spastic ataxia 3 def: "Any autosomal recessive spastic ataxia in which the cause of the disease is a mutation in the MARS2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:314603"} synonym: "ARSAL" EXACT [Orphanet:314603] +synonym: "autosomal recessive spastic ataxia caused by mutation in MARS2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic ataxia type 3" EXACT [Orphanet:314603] synonym: "autosomal recessive spastic ataxia with leukoencephalopathy" RELATED [OMIM:611390] +synonym: "MARS2 autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern] synonym: "spastic ataxia 3, autosomal recessive" RELATED [MONDO:Lexical, OMIM:611390] synonym: "spastic ataxia 3, autosomal recessive; SPAX3" RELATED [OMIM:611390] synonym: "spastic ataxia type 3" EXACT [DOID:0050942, MONDORULE:1] @@ -246804,7 +249716,7 @@ xref: OMIM:611390 {source="Orphanet:314603", source="ORDO:314603/e", source="DOI xref: Orphanet:314603 {source="OMIM:611390", source="MONDO:equivalentTo"} xref: UMLS:C1969645 {source="NCBI:mim2gene_medline", source="Orphanet:314603", source="MEDGEN:kboom-pr98-c99", source="OMIM:611390", source="MONDO:equivalentTo"} xref: UMLS:CN230089 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0017845 {source="MONDO:Redundant", source="OMIM:611390", source="Orphanet:314603/inferred"} ! spastic ataxia +is_a: MONDO:0017845 {source="DOID:0050942", source="MONDO:Redundant", source="OMIM:611390", source="Orphanet:314603/inferred"} ! spastic ataxia is_a: MONDO:0017847 {source="MONDOLEX:0012664", source="Orphanet:314603"} ! autosomal recessive spastic ataxia is_a: MONDO:0018157 {source="Orphanet:314603"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis intersection_of: MONDO:0017847 ! autosomal recessive spastic ataxia @@ -246816,6 +249728,7 @@ property_value: confidence "2.2500000000000004" xsd:double id: MONDO:0012665 name: cataract 33 def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the BFSP1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BFSP1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] synonym: "cataract 33" EXACT [MONDO:Lexical, OMIM:611391] synonym: "cataract 33, cortical" RELATED [OMIM:611391] synonym: "cataract 33, multiple types" RELATED [OMIM:611391] @@ -246824,6 +249737,7 @@ synonym: "cataract 33; CTRCT33" RELATED [OMIM:611391] synonym: "cataract type 33" EXACT [DOID:0110264, MONDORULE:2, OMIM:611391] synonym: "cortical cataract 33" NARROW [DOID:0110264] synonym: "CTRCT33" EXACT [DOID:0110264, MONDO:Lexical, OMIM:611391] +synonym: "early-onset non-syndromic cataract caused by mutation in BFSP1" EXACT [MONDO:design_pattern] xref: DOID:0110264 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110264"} xref: MESH:C566955 {source="MONDO:equivalentTo"} @@ -246832,7 +249746,7 @@ xref: Orphanet:217046 {source="OMIM:611391"} xref: Orphanet:217052 {source="OMIM:611391"} xref: UMLS:C1969644 {source="NCBI:mim2gene_medline"} xref: UMLS:C3808107 {source="OMIM:611391", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:611391"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110264", source="MESH:C566955", source="MONDO:Redundant", source="OMIM:611391"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1040 ! BFSP1 @@ -246858,6 +249772,8 @@ synonym: "cardiomyopathy, dilated, 1W; CMD1W" RELATED [OMIM:611407] synonym: "cardiomyopathy, dilated, type 1W" EXACT [MONDORULE:4, OMIM:611407] synonym: "CMD1W" EXACT [DOID:0110446, MONDO:Lexical, OMIM:611407] synonym: "dilated cardiomyopathy type 1W" EXACT [DOID:0110446, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in VCL" EXACT [MONDO:design_pattern] +synonym: "VCL familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110446 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110446", source="MONDO:subClassOf"} xref: MESH:C566954 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -246908,11 +249824,13 @@ id: MONDO:0012670 name: autosomal recessive nonsyndromic deafness 63 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LRTOMT gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 63" EXACT [DOID:0110515] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LRTOMT" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 63" EXACT [DOID:0110515, MONDORULE:2] synonym: "deafness, autosomal recessive 63" RELATED [MONDO:Lexical, OMIM:611451] synonym: "deafness, autosomal recessive 63; DFNB63" RELATED [OMIM:611451] synonym: "deafness, autosomal recessive type 63" EXACT [MONDORULE:2, OMIM:611451] synonym: "DFNB63" EXACT [DOID:0110515, MONDO:Lexical, OMIM:611451] +synonym: "LRTOMT autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110515 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110515"} xref: MESH:C566951 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -246933,7 +249851,7 @@ xref: MESH:C566949 {source="MONDO:equivalentTo"} xref: OMIM:611456 {source="MONDO:equivalentTo"} xref: Orphanet:862 {source="OMIM:611456"} xref: UMLS:C1969617 {source="NCBI:mim2gene_medline", source="OMIM:611456", source="MONDO:equivalentTo"} -is_a: MONDO:0003233 {source="DC-OMIM:611456", source="OMIM:611456"} ! essential tremor +is_a: MONDO:0003233 {source="DC-OMIM:611456", source="MESH:C566949", source="OMIM:611456"} ! essential tremor is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -246984,6 +249902,7 @@ id: MONDO:0012674 name: age related macular degeneration 10 def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the TLR4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "age related macular degeneration type 10" EXACT [DOID:0110022, MONDORULE:2] +synonym: "age-related macular degeneration caused by mutation in TLR4" EXACT [MONDO:design_pattern] synonym: "ARMD10" EXACT [DOID:0110022, MONDO:Lexical, OMIM:611488] synonym: "CD284" EXACT [Orphanet:353890] synonym: "hToll" EXACT [Orphanet:353890] @@ -246991,6 +249910,7 @@ synonym: "macular DEGENERATION, AGE-RELATED, 10" RELATED [MONDO:Lexical, OMIM:61 synonym: "macular DEGENERATION, AGE-RELATED, 10; ARMD10" RELATED [OMIM:611488] synonym: "macular Degeneration, Age-Related, type 10" EXACT [MONDORULE:2, OMIM:611488] synonym: "TLR-4" EXACT [Orphanet:353890] +synonym: "TLR4 age-related macular degeneration" EXACT [MONDO:design_pattern] synonym: "toll like receptor 4" RELATED [Orphanet:353890] xref: DOID:0110022 {source="MONDO:equivalentTo"} xref: MESH:C566935 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -247035,7 +249955,9 @@ id: MONDO:0012676 name: autosomal recessive osteopetrosis 4 def: "Osteopetrosis refers to a group of rare, inherited skeletal disorders characterized by increased bone density and abnormal bone growth. Symptoms and severity can vary greatly,ranging from neonatal onset with life-threatening complications (such as bone marrow failure) to the incidental finding of osteopetrosis on X-ray. Depending on severity and age of onset, features may includefractures, short stature, compressive neuropathies (pressure on the nerves), hypocalcemia with attendant tetanic seizures ,and life-threatening pancytopenia . In rare cases, there may be neurological impairment or involvement of other body systems. Osteopetrosis may be caused by mutations in at least 10 genes . Inheritance can be autosomal recessive , autosomal dominant , or X-linked recessive with the most severe forms being autosomal recessive. Management depends on the specific symptoms and severity and may include vitamin D supplements, various medications, and/or surgery. adult osteopetrosis requires no treatment by itself, but complications may require intervention." [https://rarediseases.info.nih.gov/diseases/5993/osteopetrosis-autosomal-recessive-4] subset: gard_rare {source="GARD:0005993"} +synonym: "autosomal recessive malignant osteopetrosis caused by mutation in CLCN7" EXACT [MONDO:design_pattern] synonym: "autosomal recessive osteopetrosis type 4" EXACT [DOID:0110944, MONDORULE:1] +synonym: "CLCN7 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] synonym: "infantile malignant osteopetrosis 2" EXACT [DOID:0110944] synonym: "OPTB4" EXACT [DOID:0110944, MONDO:Lexical, OMIM:611490] synonym: "osteopetrosis autosomal recessive 4" RELATED [GARD:0005993] @@ -247050,7 +249972,7 @@ xref: MESH:C566933 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611490 {source="DOID:0110944", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="OMIM:611490", source="MONDO:subClassOf"} xref: UMLS:C1969106 {source="NCBI:mim2gene_medline", source="OMIM:611490"} -is_a: MONDO:0017198 {source="MONDO:0012676/inferred", source="MONDO:Redundant", source="MONDOLEX:0012676/inferred", source="OMIM:611490"} ! osteopetrosis (disease) +is_a: MONDO:0017198 {source="DOID:0110944", source="MONDO:0012676/inferred", source="MONDO:Redundant", source="MONDOLEX:0012676/inferred", source="OMIM:611490"} ! osteopetrosis (disease) is_a: MONDO:0019026 {source="MONDOLEX:0012676", source="ORDO:667/btnt"} ! autosomal recessive malignant osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive malignant osteopetrosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2025 ! CLCN7 @@ -247066,6 +249988,8 @@ synonym: "ATFB4" RELATED [MONDO:Lexical, OMIM:611493] synonym: "atrial fibrillation, familial, 4" EXACT [MONDO:Lexical, OMIM:611493] synonym: "atrial fibrillation, familial, 4; ATFB4" RELATED [OMIM:611493] synonym: "atrial fibrillation, familial, type 4" EXACT [MONDORULE:1, OMIM:611493] +synonym: "familial atrial fibrillation caused by mutation in KCNE2" EXACT [MONDO:design_pattern] +synonym: "KCNE2 familial atrial fibrillation" EXACT [MONDO:design_pattern] xref: MESH:C566244 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611493 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="MONDO:subClassOf", source="OMIM:611493"} @@ -247183,9 +250107,11 @@ subset: ordo_malformation_syndrome {source="Orphanet:166073"} synonym: "encephalopathy fatal infantile with mitochondrial respiratory chain defects" RELATED [GARD:0010710] synonym: "encephalopathy, fatal infantile, with mitochondrial respiratory chain defects" RELATED [OMIM:611523] synonym: "fatal infantile encephalopathy with mitochondrial respiratory chain defects" EXACT [Orphanet:166073] +synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in RARS2" EXACT [MONDO:design_pattern] synonym: "PCH6" EXACT [MONDO:Lexical, OMIM:611523, Orphanet:166073] synonym: "pontocerebellar hypoplasia, type 6" RELATED [MONDO:Lexical, OMIM:611523] synonym: "pontocerebellar hypoplasia, type 6; PCH6" RELATED [OMIM:611523] +synonym: "RARS2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern] xref: DOID:0060275 {source="MONDO:equivalentTo"} xref: GARD:0010710 {source="MONDO:equivalentTo"} xref: ICD10:Q04.3 {source="ORDO:166073/attributed", source="Orphanet:166073", source="ORDO:166073/ntbt"} @@ -247195,7 +250121,7 @@ xref: Orphanet:166073 {source="OMIM:611523", source="DOID:0060275", source="MOND xref: SCTID:718606005 {source="MONDO:kboom-pr-1.00/0.80/8.83", source="MONDO:equivalentTo"} xref: UMLS:C1969084 {source="NCBI:mim2gene_medline", source="Orphanet:166073", source="ORDO:166073/e", source="OMIM:611523", source="DOID:0060275", source="MONDO:equivalentTo"} is_a: MONDO:0018157 {source="Orphanet:166073"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis -is_a: MONDO:0020135 {source="DC-OMIM:611523", source="DOID:0060275", source="OMIM:611523", source="Orphanet:166073"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DC-OMIM:611523", source="DOID:0060275", source="OMIM:611523", source="Orphanet:166073", source="linkedlifedata"} ! non-syndromic pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! non-syndromic pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21406 ! RARS2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21406 {source="mim2gene_medgen"} ! RARS2 @@ -247215,6 +250141,8 @@ synonym: "arrhythmogenic right ventricular dysplasia, familial, type 12" EXACT [ synonym: "ARVC12" EXACT [DOID:0110083] synonym: "ARVD12" EXACT [DOID:0110083, MONDO:Lexical, OMIM:611528] synonym: "familial arrhythmogenic right ventricular dysplasia 12" EXACT [DOID:0110083] +synonym: "familial isolated arrhythmogenic right ventricular dysplasia caused by mutation in JUP" EXACT [MONDO:design_pattern] +synonym: "JUP familial isolated arrhythmogenic right ventricular dysplasia" EXACT [MONDO:design_pattern] xref: DOID:0110083 {source="MONDO:equivalentTo"} xref: ICD10:I42.8 {source="DOID:0110083"} xref: MESH:C566925 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -247222,7 +250150,7 @@ xref: OMIM:611528 {source="DOID:0110083", source="MONDO:equivalentTo"} xref: Orphanet:217656 {source="OMIM:611528", source="MONDO:subClassOf"} xref: UMLS:C1969081 {source="NCBI:mim2gene_medline", source="OMIM:611528", source="MONDO:equivalentTo"} is_a: MONDO:0016342 {source="ORDO:217656/btnt"} ! familial isolated arrhythmogenic right ventricular dysplasia -is_a: MONDO:0016587 {source="MESH:C566925", source="MONDO:Redundant", source="OMIM:611528"} ! arrhythmogenic right ventricular cardiomyopathy +is_a: MONDO:0016587 {source="DOID:0110083", source="MESH:C566925", source="MONDO:Redundant", source="OMIM:611528"} ! arrhythmogenic right ventricular cardiomyopathy intersection_of: MONDO:0016342 ! familial isolated arrhythmogenic right ventricular dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6207 ! JUP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6207 {source="mim2gene_medgen"} ! JUP @@ -247239,7 +250167,7 @@ xref: MESH:C567074 {source="MONDO:equivalentTo"} xref: OMIM:611535 {source="MONDO:equivalentTo"} xref: UMLS:C1970944 {source="NCBI:mim2gene_medline", source="OMIM:611535"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0004985 {source="DC-OMIM:611535", source="MONDO:cjm"} ! bipolar disorder +is_a: MONDO:0004985 {source="DC-OMIM:611535", source="MESH:C567074", source="MONDO:cjm"} ! bipolar disorder [Term] id: MONDO:0012686 @@ -247252,7 +250180,7 @@ xref: MESH:C567075 {source="MONDO:equivalentTo"} xref: OMIM:611536 {source="MONDO:equivalentTo"} xref: UMLS:C1970945 {source="NCBI:mim2gene_medline", source="OMIM:611536"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0004985 {source="DC-OMIM:611536", source="MONDO:cjm"} ! bipolar disorder +is_a: MONDO:0004985 {source="DC-OMIM:611536", source="MESH:C567075", source="MONDO:cjm"} ! bipolar disorder [Term] id: MONDO:0012687 @@ -247280,7 +250208,9 @@ synonym: "cataract 17, multiple types, with or without microcornea" RELATED [OMI synonym: "cataract 17, multiple types; CTRCT17" RELATED [OMIM:611544] synonym: "cataract, congenital nuclear, autosomal recessive 3" RELATED [OMIM:611544] synonym: "CATCN3" NARROW [DOID:0110270] +synonym: "CRYBB1 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] synonym: "CTRCT17" EXACT [DOID:0110270, MONDO:Lexical, OMIM:611544] +synonym: "early-onset non-syndromic cataract caused by mutation in CRYBB1" EXACT [MONDO:design_pattern] xref: DOID:0110270 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110270"} xref: MESH:C566923 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -247288,7 +250218,7 @@ xref: OMIM:611544 {source="DOID:0110270", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="OMIM:611544", source="MONDO:subClassOf"} xref: Orphanet:98991 {source="OMIM:611544", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C1969062 {source="NCBI:mim2gene_medline", source="OMIM:611544", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C566923", source="MONDO:Redundant", source="OMIM:611544"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110270", source="MESH:C566923", source="MONDO:Redundant", source="OMIM:611544"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2397 ! CRYBB1 @@ -247299,10 +250229,12 @@ property_value: confidence "3.3019579861886594" xsd:double id: MONDO:0012689 name: premature ovarian failure 5 def: "Any primary ovarian failure in which the cause of the disease is a mutation in the NOBOX gene." [MONDO:patterns/disease_series_by_gene] +synonym: "NOBOX primary ovarian failure" EXACT [MONDO:design_pattern] synonym: "Pof5" RELATED [MONDO:Lexical, OMIM:611548] synonym: "premature ovarian failure 5" EXACT [MONDO:Lexical, OMIM:611548] synonym: "premature ovarian failure 5; Pof5" RELATED [OMIM:611548] synonym: "premature ovarian failure type 5" EXACT [MONDORULE:1, OMIM:611548] +synonym: "primary ovarian failure caused by mutation in NOBOX" EXACT [MONDO:design_pattern] xref: MESH:C566921 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611548 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:611548"} @@ -247321,9 +250253,11 @@ def: "Noonan syndrome is a genetic disorder that causes abnormal development of subset: gard_rare {source="GARD:0010700"} synonym: "Noonan syndrome 5" EXACT [MONDO:Lexical, OMIM:611553] synonym: "Noonan syndrome 5; NS5" RELATED [OMIM:611553] +synonym: "Noonan syndrome caused by mutation in RAF1" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome type 5" EXACT [DOID:0060583, MONDORULE:1, OMIM:611553] synonym: "NS5" EXACT [DOID:0060583, MONDO:Lexical, OMIM:611553] synonym: "RAF1 gene related Noonan syndrome" RELATED [GARD:0010700] +synonym: "RAF1 Noonan syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060583 {source="MONDO:equivalentTo"} xref: GARD:0010700 {source="MONDO:equivalentTo"} xref: MESH:C548083 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -247345,6 +250279,8 @@ synonym: "leopard syndrome 2" EXACT [MONDO:Lexical, OMIM:611554] synonym: "LEOPARD syndrome 2; LPRD2" RELATED [OMIM:611554] synonym: "Leopard syndrome type 2" EXACT [MONDORULE:1, OMIM:611554] synonym: "LPRD2" RELATED [MONDO:Lexical, OMIM:611554] +synonym: "Noonan syndrome with multiple lentigines caused by mutation in RAF1" EXACT [MONDO:design_pattern] +synonym: "RAF1 Noonan syndrome with multiple lentigines" EXACT [MONDO:design_pattern] xref: MESH:C537117 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611554 {source="MONDO:equivalentTo"} xref: Orphanet:500 {source="OMIM:611554", source="MONDO:subClassOf"} @@ -247371,6 +250307,7 @@ def: "Glycogen storage disease due to muscle and heart glycogen synthase deficie subset: ordo_disease {source="Orphanet:137625"} synonym: "glycogen storage disease 0, muscle" RELATED [MONDO:Lexical, OMIM:611556] synonym: "glycogen storage disease 0, muscle; GSD0B" RELATED [OMIM:611556] +synonym: "glycogen storage disease due to glycogen synthase deficiency of heart" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease type 0, muscle" RELATED [GARD:0010760] synonym: "glycogen storage disease type 0b" EXACT [Orphanet:137625] synonym: "glycogenosis due to muscle and heart glycogen synthase deficiency" EXACT [Orphanet:137625] @@ -247379,6 +250316,7 @@ synonym: "GSD 0B" RELATED [OMIM:611556] synonym: "GSD due to muscle and heart glycogen synthase deficiency" EXACT [Orphanet:137625] synonym: "GSD type 0b" EXACT [Orphanet:137625] synonym: "GSD0B" RELATED [MONDO:Lexical, OMIM:611556] +synonym: "heart glycogen storage disease due to glycogen synthase deficiency" EXACT [MONDO:design_pattern] synonym: "muscle glycogen storage disease 0" RELATED [OMIM:611556] synonym: "muscle glycogen synthase deficiency" RELATED [OMIM:611556] xref: GARD:0010760 {source="MONDO:equivalentTo"} @@ -247389,6 +250327,8 @@ xref: Orphanet:137625 {source="OMIM:611556", source="MONDO:equivalentTo"} xref: UMLS:C1969054 {source="NCBI:mim2gene_medline", source="OMIM:611556", source="MONDO:equivalentTo"} is_a: MONDO:0016325 {source="Orphanet:137625"} ! glycogen storage disease with hypertrophic cardiomyopathy is_a: MONDO:0017693 {source="Orphanet:137625"} ! glycogen storage disease due to glycogen synthase deficiency +intersection_of: MONDO:0017693 ! glycogen storage disease due to glycogen synthase deficiency +intersection_of: disease_has_location UBERON:0000948 ! heart relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4706 {source="mim2gene_medgen"} ! GYS1 property_value: confidence "4.230769230769231" xsd:double @@ -247399,13 +250339,15 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th synonym: "JBTS7" EXACT [DOID:0111002, MONDO:Lexical, OMIM:611560] synonym: "Joubert syndrome 7" EXACT [MONDO:Lexical, OMIM:611560] synonym: "Joubert syndrome 7; JBTS7" RELATED [OMIM:611560] +synonym: "Joubert syndrome caused by mutation in RPGRIP1L" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 7" EXACT [DOID:0111002, MONDORULE:1, OMIM:611560] +synonym: "RPGRIP1L Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0111002 {source="MONDO:equivalentTo"} xref: MESH:C566916 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611560 {source="DOID:0111002", source="MONDO:equivalentTo"} xref: Orphanet:220497 {source="MONDO:directSiblingOf", source="MONDO:subClassOf", source="OMIM:611560"} xref: UMLS:C1969053 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611560"} -is_a: MONDO:0018772 {source="DOID", source="MONDO:Entailed", source="OMIM:611560"} ! Joubert syndrome +is_a: MONDO:0018772 {source="DOID", source="DOID:0111002", source="MONDO:Entailed", source="OMIM:611560"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29168 ! RPGRIP1L relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29168 {source="mim2gene_medgen"} ! RPGRIP1L @@ -247416,10 +250358,12 @@ id: MONDO:0012695 name: Meckel syndrome, type 5 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the RPGRIP1L gene." [MONDO:patterns/disease_series_by_gene] synonym: "Meckel syndrome 5" RELATED [DOID:0070119] +synonym: "Meckel syndrome caused by mutation in RPGRIP1L" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 5" EXACT [MONDO:Lexical, OMIM:611561] synonym: "MECKEL syndrome, type 5; MKS5" RELATED [OMIM:611561] synonym: "Meckel-Gruber syndrome, type 5" EXACT [DOID:0070119] synonym: "MKS5" EXACT [DOID:0070119, MONDO:Lexical, OMIM:611561] +synonym: "RPGRIP1L Meckel syndrome" EXACT [MONDO:design_pattern] xref: DOID:0070119 {source="MONDO:equivalentTo"} xref: ICD10:Q61.9 {source="DOID:0070119"} xref: MESH:C566915 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -247443,7 +250387,7 @@ xref: OMIM:611571 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:611571"} xref: UMLS:C1969046 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611571"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0005349 {source="DC-OMIM:611571", source="OMIM:611571"} ! otosclerosis (disease) +is_a: MONDO:0005349 {source="DC-OMIM:611571", source="MESH:C566914", source="OMIM:611571"} ! otosclerosis (disease) [Term] id: MONDO:0012697 @@ -247456,7 +250400,7 @@ xref: OMIM:611572 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:611572"} xref: UMLS:C1969044 {source="OMIM:611572", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0005349 {source="DC-OMIM:611572", source="OMIM:611572"} ! otosclerosis (disease) +is_a: MONDO:0005349 {source="DC-OMIM:611572", source="MESH:C566913", source="OMIM:611572"} ! otosclerosis (disease) [Term] id: MONDO:0012698 @@ -247464,6 +250408,8 @@ name: Waardenburg syndrome type 2E def: "Any Waardenburg syndrome type 2 in which the cause of the disease is a mutation in the SOX10 gene." [MONDO:patterns/disease_series_by_gene] synonym: "hypogonadotropic hypogonadism with anosmia and deafness with or without hypopigmentation" EXACT [DOID:0110956] synonym: "hypogonadotropic hypogonadism with anosmia and deafness, with or without hypopigmentation" RELATED [OMIM:611584] +synonym: "SOX10 Waardenburg syndrome type 2" EXACT [MONDO:design_pattern] +synonym: "Waardenburg syndrome type 2 caused by mutation in SOX10" EXACT [MONDO:design_pattern] synonym: "Waardenburg syndrome type 2E with or without neurologic involvement" EXACT [DOID:0110956] synonym: "Waardenburg syndrome type IIE" EXACT [DOID:0110956] synonym: "Waardenburg syndrome, type 2E" RELATED [MONDO:Lexical, OMIM:611584] @@ -247477,7 +250423,7 @@ xref: OMIM:611584 {source="DOID:0110956", source="MONDO:equivalentTo"} xref: Orphanet:3440 {source="OMIM:611584", source="MONDO:subClassOf"} xref: Orphanet:895 {source="OMIM:611584", source="MONDO:subClassOf"} xref: UMLS:C2700405 {source="OMIM:611584", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018094 {source="MONDO:Redundant", source="OMIM:611584"} ! Waardenburg syndrome +is_a: MONDO:0018094 {source="DOID:0110956", source="MONDO:Redundant", source="OMIM:611584"} ! Waardenburg syndrome is_a: MONDO:0019517 {source="MONDO:Entailed", source="MONDO:cjm", source="MONDOLEX:0012698"} ! Waardenburg syndrome type 2 intersection_of: MONDO:0019517 ! Waardenburg syndrome type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11190 ! SOX10 @@ -247489,6 +250435,8 @@ id: MONDO:0012699 name: autosomal recessive limb-girdle muscular dystrophy type 2M def: "Autosomal recessive limb-girdle muscular dystrophy type 2M (LGMD2M) is a form of limb-girdle muscular dystrophy characterized by an infantile onset of hypotonia, axial and proximal lower limb weakness (with severe weakness noted after febrile illnesses), cardiomyopathy and normal or reduced intelligence. Hypertrophy of calves, thighs, and triceps have also been reported in some cases." [Orphanet:206554] subset: ordo_disease {source="Orphanet:206554"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in FKTN" EXACT [MONDO:design_pattern] +synonym: "FKTN autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "LGMD2M" EXACT [DOID:0110296, Orphanet:206554] synonym: "limb-girdle muscular dystrophy type 2M" RELATED [GARD:0012538] synonym: "MDDGC4" EXACT [DOID:0110296, MONDO:Lexical, OMIM:611588] @@ -247550,7 +250498,7 @@ xref: Orphanet:91492 {source="OMIM:611597", source="MONDO:subClassOf", source="M xref: Orphanet:98992 {source="OMIM:611597", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C1969032 {source="NCBI:mim2gene_medline"} xref: UMLS:C3808115 {source="OMIM:611597"} -is_a: MONDO:0005129 {source="DOID", source="OMIM:611597"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110239", source="MESH:C566909", source="OMIM:611597"} ! cataract (disease) relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1041 {source="mim2gene_medgen"} ! BFSP2 property_value: confidence "3.3019579861886594" xsd:double @@ -247584,7 +250532,7 @@ xref: OMIM:611603 {source="ORDO:171680/e", source="MONDO:equivalentTo", source=" xref: Orphanet:171680 {source="OMIM:611603", source="MONDO:equivalentTo"} xref: UMLS:C1969029 {source="NCBI:mim2gene_medline", source="OMIM:611603"} is_a: MONDO:0015148 {source="MONDOLEX:0012703"} ! lissencephaly type 3 -is_a: MONDO:0018838 {source="MONDO:Redundant", source="OMIM:611603", source="Orphanet:171680"} ! lissencephaly (disease) +is_a: MONDO:0018838 {source="MESH:C566908", source="MONDO:Redundant", source="NCIT:C148461", source="OMIM:611603", source="Orphanet:171680"} ! lissencephaly (disease) relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20766 {source="mim2gene_medgen"} ! TUBA1A property_value: confidence "3.1611111111111105" xsd:double @@ -247599,6 +250547,8 @@ synonym: "cardiomyopathy, dilated, with mild or No proximal muscle weakness" REL synonym: "CMD1X" EXACT [DOID:0110444, MONDO:Lexical, OMIM:611615] synonym: "dilated cardiomyopathy type 1X" EXACT [DOID:0110444, MONDORULE:4] synonym: "dilated cardiomyopathy with mild or no proximal muscle weakness" EXACT [DOID:0110444] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in FKTN" EXACT [MONDO:design_pattern] +synonym: "FKTN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110444 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110444", source="MONDO:subClassOf"} xref: MESH:C566907 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -247679,7 +250629,9 @@ def: "Any microphthalmia, isolated, with coloboma in which the cause of the dise synonym: "MCOPCB5" RELATED [MONDO:Lexical, OMIM:611638] synonym: "microphthalmia, isolated, with coloboma 5" EXACT [MONDO:Lexical, OMIM:611638] synonym: "microphthalmia, isolated, with coloboma 5; MCOPCB5" RELATED [OMIM:611638] +synonym: "microphthalmia, isolated, with coloboma caused by mutation in SHH" EXACT [MONDO:design_pattern] synonym: "microphthalmia, isolated, with coloboma type 5" EXACT [MONDORULE:1, OMIM:611638] +synonym: "SHH microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern] xref: MESH:C566899 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611638 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="OMIM:611638", source="MONDO:subClassOf"} @@ -247797,10 +250749,12 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0012717 name: renal hypomagnesemia 4 def: "Any primary hypomagnesemia in which the cause of the disease is a mutation in the EGF gene." [MONDO:patterns/disease_series_by_gene] +synonym: "EGF primary hypomagnesemia" EXACT [MONDO:design_pattern] synonym: "HOMG4" EXACT [DOID:0060882, MONDO:Lexical, OMIM:611718] synonym: "hypomagnesemia 4, renal" RELATED [MONDO:Lexical, OMIM:611718] synonym: "hypomagnesemia 4, renal; HOMG4" RELATED [OMIM:611718] synonym: "hypomagnesemia, renal, Normocalciuric" RELATED [OMIM:611718] +synonym: "primary hypomagnesemia caused by mutation in EGF" EXACT [MONDO:design_pattern] synonym: "renal hypomagnesemia type 4" EXACT [DOID:0060882, MONDORULE:1] xref: DOID:0060882 {source="MONDO:equivalentTo"} xref: ICD10:E83.4 {source="DOID:0060882"} @@ -247808,7 +250762,7 @@ xref: MESH:C567127 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611718 {source="DOID:0060882", source="MONDO:equivalentTo"} xref: Orphanet:34527 {source="DOID:0060882", source="MONDO:subClassOf", source="OMIM:611718"} xref: UMLS:C2673648 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:611718"} -is_a: MONDO:0018100 {source="MONDO:Redundant", source="OMIM:611718"} ! primary hypomagnesemia +is_a: MONDO:0018100 {source="DOID:0060882", source="MONDO:Redundant", source="OMIM:611718"} ! primary hypomagnesemia is_a: MONDO:0018101 {source="ORDO:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia intersection_of: MONDO:0018100 ! primary hypomagnesemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3229 ! EGF @@ -247823,8 +250777,10 @@ subset: ordo_disease {source="Orphanet:137908"} synonym: "combined oxidative phosphorylation defect type 5" EXACT [Orphanet:137908] synonym: "combined oxidative phosphorylation deficiency 5" RELATED [MONDO:Lexical, OMIM:611719] synonym: "combined oxidative phosphorylation deficiency 5; COXPD5" RELATED [OMIM:611719] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPS22" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 5" EXACT [MONDORULE:1, OMIM:611719] synonym: "COXPD5" EXACT [MONDO:Lexical, OMIM:611719, Orphanet:137908] +synonym: "MRPS22 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: ICD10:E88.8 {source="ORDO:137908/ntbt", source="Orphanet:137908", source="ORDO:137908/attributed"} xref: MESH:C567126 {source="MONDO:equivalentTo"} xref: OMIM:611719 {source="ORDO:137908/e", source="Orphanet:137908", source="MONDO:equivalentTo"} @@ -247833,6 +250789,8 @@ xref: UMLS:C2673642 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c xref: UMLS:C4510567 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:611719", source="OMIM:611719"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0018157 {source="Orphanet:137908"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis +intersection_of: MONDO:0000732 {source="mim2gene_medgen"} ! combined oxidative phosphorylation deficiency +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14508 {source="mim2gene_medgen"} ! MRPS22 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14508 {source="mim2gene_medgen"} ! MRPS22 property_value: confidence "3.666666666666667" xsd:double @@ -247893,8 +250851,10 @@ synonym: "epilepsy, progressive myoclonic, 3, with or without intracellular incl synonym: "epilepsy, progressive myoclonic, 3, with or without intracellular inclusions; EPM3" RELATED [OMIM:611726] synonym: "EPM 3" RELATED [GARD:0002167] synonym: "EPM3" EXACT [MONDO:Lexical, OMIM:611726, Orphanet:263516] +synonym: "KCTD7 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern] synonym: "PME type 3" EXACT [Orphanet:263516] synonym: "progressive myoclonic epilepsy 3" RELATED [GARD:0002167] +synonym: "progressive myoclonic epilepsy caused by mutation in KCTD7" EXACT [MONDO:design_pattern] synonym: "progressive myoclonic epilepsy due to KCTD7 deficiency" EXACT [Orphanet:263516] synonym: "progressive myoclonus epilepsy type 3" EXACT [Orphanet:263516] xref: GARD:0002167 {source="MONDO:equivalentTo"} @@ -247905,7 +250865,7 @@ xref: Orphanet:263516 {source="OMIM:611726", source="MONDO:equivalentTo"} xref: UMLS:C2673257 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:611726", source="MONDO:equivalentTo", source="Orphanet:263516"} is_a: MONDO:0016295 {source="Orphanet:263516", source="Orphanet:263516/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0018284 {source="Orphanet:263516"} ! congenital disorder of glycosylation with neurological involvement -is_a: MONDO:0020074 {source="DC-OMIM:611726", source="OMIM:611726", source="Orphanet:263516", source="Orphanet:263516/inferred"} ! progressive myoclonic epilepsy +is_a: MONDO:0020074 {source="DC-OMIM:611726", source="MESH:C567095", source="OMIM:611726", source="Orphanet:263516", source="Orphanet:263516/inferred"} ! progressive myoclonic epilepsy intersection_of: MONDO:0020074 ! progressive myoclonic epilepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21957 ! KCTD7 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21957 {source="mim2gene_medgen"} ! KCTD7 @@ -247932,9 +250892,11 @@ name: Leber congenital amaurosis 10 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CEP290 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010487"} synonym: "amaurosis congenita of Leber, type 10" RELATED [GARD:0010487] +synonym: "CEP290 Leber congenital amaurosis" EXACT [MONDO:design_pattern] synonym: "LCA10" EXACT [DOID:0110291, MONDO:Lexical, OMIM:611755] synonym: "Leber congenital amaurosis 10" EXACT [MONDO:Lexical, OMIM:611755] synonym: "Leber congenital amaurosis 10; LCA10" RELATED [OMIM:611755] +synonym: "Leber congenital amaurosis caused by mutation in CEP290" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 10" EXACT [DOID:0110291, MONDORULE:2, OMIM:611755] xref: DOID:0110291 {source="MONDO:equivalentTo"} xref: GARD:0010487 {source="MONDO:equivalentTo"} @@ -247955,10 +250917,12 @@ def: "An autoinflammatory disease caused by mutations in the NLRP12 gene. It is subset: ordo_disease {source="Orphanet:247868"} synonym: "familial cold autoinflammatory syndrome 2" EXACT [MONDO:Lexical, OMIM:611762] synonym: "familial cold autoinflammatory syndrome 2; FCAS2" RELATED [OMIM:611762] +synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRP12" EXACT [MONDO:design_pattern] synonym: "familial cold autoinflammatory syndrome type 2" EXACT [DOID:0090063, MONDORULE:1, OMIM:611762, Orphanet:247868] synonym: "FCAS2" EXACT [MONDO:Lexical, OMIM:611762, Orphanet:247868] synonym: "NALP12-associated hereditary periodic Fever syndrome" EXACT [NCIT:C119043] synonym: "NAPS12" EXACT [Orphanet:247868] +synonym: "NLRP12 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern] synonym: "NLRP12-associated hereditary periodic fever syndrome" EXACT [DOID:0090063] xref: DOID:0090063 {source="MONDO:equivalentTo"} xref: ICD10:E85.0 {source="DOID:0090063", source="ORDO:247868/attributed", source="ORDO:247868/ntbt", source="Orphanet:247868"} @@ -248053,7 +251017,7 @@ xref: UMLS:C0026691 {source="NCBI:mim2gene_medline", source="OMIM:611775", sourc xref: UMLS:C2936917 {source="OMIM:611775"} is_a: MONDO:0002052 {source="DOID:13378"} ! lymphadenitis (disease) is_a: MONDO:0015489 {source="Orphanet:2331"} ! predominantly medium-vessel vasculitis -is_a: MONDO:0018882 {source="MESH:D009080", source="MONDO:Redundant", source="NCIT:C34825", source="Orphanet:2331/inferred", source="linkedlifedata"} ! vasculitis +is_a: MONDO:0018882 {source="MESH:D009080", source="MONDO:Redundant", source="NCIT:C34825", source="Orphanet:2331/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! vasculitis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14897 {source="mim2gene_medgen"} ! ITPKC property_value: confidence "3.9999999999999956" xsd:double @@ -248064,7 +251028,9 @@ def: "Any Brugada syndrome in which the cause of the disease is a mutation in th synonym: "BRGDA2" EXACT [DOID:0110219, MONDO:Lexical, OMIM:611777] synonym: "Brugada syndrome 2" EXACT [MONDO:Lexical, OMIM:611777] synonym: "Brugada syndrome 2; BRGDA2" RELATED [OMIM:611777] +synonym: "Brugada syndrome caused by mutation in GPD1L" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 2" EXACT [DOID:0110219, MONDORULE:1, OMIM:611777] +synonym: "GPD1L Brugada syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110219 {source="MONDO:equivalentTo"} xref: ICD10:I49.8 {source="DOID:0110219"} xref: MESH:C567087 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -248081,9 +251047,11 @@ id: MONDO:0012729 name: erythrocytosis, familial, 4 def: "Any familial polycythemia in which the cause of the disease is a mutation in the EPAS1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ECYT4" RELATED [MONDO:Lexical, OMIM:611783] +synonym: "EPAS1 familial polycythemia" EXACT [MONDO:design_pattern] synonym: "erythrocytosis, familial, 4" EXACT [MONDO:Lexical, OMIM:611783] synonym: "erythrocytosis, familial, 4; ECYT4" RELATED [OMIM:611783] synonym: "erythrocytosis, familial, type 4" EXACT [MONDORULE:1, OMIM:611783] +synonym: "familial polycythemia caused by mutation in EPAS1" EXACT [MONDO:design_pattern] xref: MESH:C567086 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611783 {source="MONDO:equivalentTo"} xref: Orphanet:247511 {source="OMIM:611783", source="MONDO:subClassOf"} @@ -248100,9 +251068,11 @@ id: MONDO:0012730 name: aortic aneurysm, familial thoracic 6 def: "Any familial thoracic aortic aneurysm and aortic dissection in which the cause of the disease is a mutation in the ACTA2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "AAT6" RELATED [MONDO:Lexical, OMIM:611788] +synonym: "ACTA2 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern] synonym: "aortic aneurysm, familial thoracic 6" EXACT [MONDO:Lexical, OMIM:611788] synonym: "aortic aneurysm, familial thoracic 6; AAT6" RELATED [OMIM:611788] synonym: "aortic aneurysm, familial thoracic type 6" EXACT [MONDORULE:1, OMIM:611788] +synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in ACTA2" EXACT [MONDO:design_pattern] synonym: "familial thoracic aortic aneurysm with livedo reticularis and iris flocculi" RELATED [OMIM:611788] xref: MESH:C567085 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611788 {source="MONDO:equivalentTo"} @@ -248126,6 +251096,8 @@ synonym: "elliptocytosis 1" EXACT [MONDO:Lexical, OMIM:611804] synonym: "elliptocytosis 1; EL1" RELATED [OMIM:611804] synonym: "elliptocytosis type 1" EXACT [MONDORULE:1, OMIM:611804] synonym: "elliptocytosis, Rhesus-linked type" RELATED [OMIM:611804] +synonym: "EPB41 hereditary elliptocytosis" EXACT [MONDO:design_pattern] +synonym: "hereditary elliptocytosis caused by mutation in EPB41" EXACT [MONDO:design_pattern] synonym: "Protein 4.1 of erythrocyte Membrane, defect of" RELATED [OMIM:611804] xref: MESH:C567520 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611804 {source="MONDO:equivalentTo"} @@ -248166,7 +251138,7 @@ xref: Orphanet:139455 {source="OMIM:611809", source="MONDO:equivalentTo"} xref: UMLS:C2678493 {source="OMIM:611809", source="MONDO:equivalentTo"} xref: UMLS:C3888198 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0003004 {source="DOID:0050662"} ! macular degeneration -is_a: MONDO:0019118 {source="Orphanet:139455"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:139455"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12703 {source="mim2gene_medgen"} ! BEST1 property_value: confidence "3.0625" xsd:double @@ -248211,7 +251183,7 @@ xref: MESH:C567516 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:611816 {source="ORDO:420561/e", source="Orphanet:420561", source="MONDO:equivalentTo"} xref: Orphanet:420561 {source="OMIM:611816", source="MONDO:equivalentTo"} xref: UMLS:C2678486 {source="NCBI:mim2gene_medline", source="OMIM:611816", source="Orphanet:420561", source="MONDO:equivalentTo"} -is_a: MONDO:0015159 {source="Orphanet:420561"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +is_a: MONDO:0015159 {source="EFO:0009062", source="Orphanet:420561"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:420561"} ! rare syndromic intellectual disability is_a: MONDO:0015983 {source="Orphanet:420561"} ! rare genetic syndromic intellectual disability is_a: MONDO:0019285 {source="Orphanet:420561"} ! syndromic nail anomaly @@ -248223,10 +251195,12 @@ id: MONDO:0012736 name: long QT syndrome 9 def: "Any long QT syndrome in which the cause of the disease is a mutation in the CAV3 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010435"} +synonym: "CAV3 long QT syndrome" EXACT [MONDO:design_pattern] synonym: "long QT syndrome 2/9, digenic" RELATED [OMIM:611818] synonym: "long QT syndrome 9" EXACT [MONDO:Lexical, OMIM:611818] synonym: "long QT syndrome 9, acquired, susceptibility to" RELATED [OMIM:611818] synonym: "long QT syndrome 9; LQT9" RELATED [OMIM:611818] +synonym: "long QT syndrome caused by mutation in CAV3" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 9" EXACT [DOID:0110650, MONDORULE:1, OMIM:611818] synonym: "LQT9" EXACT [DOID:0110650, MONDO:Lexical, OMIM:611818] xref: DOID:0110650 {source="MONDO:equivalentTo"} @@ -248237,7 +251211,7 @@ xref: OMIM:611818 {source="DOID:0110650", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="MONDO:directSiblingOf", source="MONDO:subClassOf", source="OMIM:611818"} xref: Orphanet:768 {source="MONDO:subClassOf", source="OMIM:611818"} xref: UMLS:C2678485 {source="NCBI:mim2gene_medline", source="OMIM:611818"} -is_a: MONDO:0002442 {source="MESH:C567515", source="MONDO:Redundant", source="OMIM:611818"} ! long QT syndrome +is_a: MONDO:0002442 {source="DOID:0110650", source="MESH:C567515", source="MONDO:Redundant", source="OMIM:611818"} ! long QT syndrome is_a: MONDO:0019171 {source="OMIM:611818", source="Orphanet:101016-prototype"} ! familial long QT syndrome intersection_of: MONDO:0002442 ! long QT syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1529 ! CAV3 @@ -248253,8 +251227,10 @@ subset: gard_rare {source="GARD:0010436"} synonym: "atrial fibrillation, familial, 17" RELATED [OMIM:611819] synonym: "long QT syndrome 10" EXACT [MONDO:Lexical, OMIM:611819] synonym: "long QT syndrome 10; LQT10" RELATED [OMIM:611819] +synonym: "long QT syndrome caused by mutation in SCN4B" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 10" EXACT [DOID:0110651, MONDORULE:2, OMIM:611819] synonym: "LQT10" EXACT [DOID:0110651, MONDO:Lexical, OMIM:611819] +synonym: "SCN4B long QT syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110651 {source="MONDO:equivalentTo"} xref: GARD:0010436 {source="MONDO:equivalentTo"} xref: ICD10:I45.8 {source="DOID:0110651"} @@ -248264,7 +251240,7 @@ xref: Orphanet:101016 {source="OMIM:611819", source="MONDO:directSiblingOf", sou xref: Orphanet:334 {source="OMIM:611819", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: Orphanet:768 {source="OMIM:611819", source="MONDO:subClassOf"} xref: UMLS:C2678484 {source="OMIM:611819", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0002442 {source="DOID", source="MESH:C567514", source="MONDO:Redundant"} ! long QT syndrome +is_a: MONDO:0002442 {source="DOID", source="DOID:0110651", source="MESH:C567514", source="MONDO:Redundant"} ! long QT syndrome is_a: MONDO:0019171 {source="OMIM:611819", source="ORDO:768/btnt"} ! familial long QT syndrome intersection_of: MONDO:0002442 ! long QT syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10592 ! SCN4B @@ -248277,8 +251253,10 @@ id: MONDO:0012738 name: long QT syndrome 11 def: "Any long QT syndrome in which the cause of the disease is a mutation in the AKAP9 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010437"} +synonym: "AKAP9 long QT syndrome" EXACT [MONDO:design_pattern] synonym: "long QT syndrome 11" EXACT [MONDO:Lexical, OMIM:611820] synonym: "long QT syndrome 11; LQT11" RELATED [OMIM:611820] +synonym: "long QT syndrome caused by mutation in AKAP9" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 11" EXACT [DOID:0110652, MONDORULE:2, OMIM:611820] synonym: "LQT11" EXACT [DOID:0110652, MONDO:Lexical, OMIM:611820] xref: DOID:0110652 {source="MONDO:equivalentTo"} @@ -248289,7 +251267,7 @@ xref: OMIM:611820 {source="DOID:0110652", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="MONDO:directSiblingOf", source="OMIM:611820", source="MONDO:subClassOf"} xref: Orphanet:768 {source="OMIM:611820", source="MONDO:subClassOf"} xref: UMLS:C2678483 {source="NCBI:mim2gene_medline", source="OMIM:611820", source="MONDO:equivalentTo"} -is_a: MONDO:0002442 {source="MESH:C567513", source="MONDO:Redundant", source="OMIM:611820"} ! long QT syndrome +is_a: MONDO:0002442 {source="DOID:0110652", source="MESH:C567513", source="MONDO:Redundant", source="OMIM:611820"} ! long QT syndrome is_a: MONDO:0019171 {source="OMIM:611820", source="Orphanet:101016-prototype"} ! familial long QT syndrome intersection_of: MONDO:0002442 ! long QT syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/379 ! AKAP9 @@ -248340,6 +251318,8 @@ property_value: confidence "21.85714285714286" xsd:double id: MONDO:0012741 name: prostate cancer, hereditary, 12 def: "Any familial prostate cancer in which the cause of the disease is a mutation in the EHBP1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "EHBP1 familial prostate cancer" EXACT [MONDO:design_pattern] +synonym: "familial prostate cancer caused by mutation in EHBP1" EXACT [MONDO:design_pattern] synonym: "HPC12" RELATED [MONDO:Lexical, OMIM:611868] synonym: "prostate cancer, hereditary, 12" EXACT [MONDO:Lexical, OMIM:611868] synonym: "prostate cancer, hereditary, 12; HPC12" RELATED [OMIM:611868] @@ -248363,7 +251343,9 @@ subset: gard_rare {source="GARD:0010361"} synonym: "BRGDA3" EXACT [DOID:0110220, MONDO:Lexical, OMIM:611875] synonym: "Brugada syndrome 3" EXACT [MONDO:Lexical, OMIM:611875] synonym: "Brugada syndrome 3; BRGDA3" RELATED [OMIM:611875] +synonym: "Brugada syndrome caused by mutation in CACNA1C" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 3" EXACT [DOID:0110220, MONDORULE:1, OMIM:611875] +synonym: "CACNA1C Brugada syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110220 {source="MONDO:equivalentTo"} xref: GARD:0010361 {source="MONDO:equivalentTo"} xref: ICD10:I49.8 {source="DOID:0110220"} @@ -248385,7 +251367,9 @@ subset: gard_rare {source="GARD:0010362"} synonym: "BRGDA4" EXACT [DOID:0110221, MONDO:Lexical, OMIM:611876] synonym: "Brugada syndrome 4" EXACT [MONDO:Lexical, OMIM:611876] synonym: "Brugada syndrome 4; BRGDA4" RELATED [OMIM:611876] +synonym: "Brugada syndrome caused by mutation in CACNB2" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 4" EXACT [DOID:0110221, MONDORULE:1, OMIM:611876] +synonym: "CACNB2 Brugada syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110221 {source="MONDO:equivalentTo"} xref: GARD:0010362 {source="MONDO:equivalentTo"} xref: ICD10:I49.8 {source="DOID:0110221"} @@ -248408,7 +251392,9 @@ synonym: "cardiomyopathy, dilated, 1Y; CMD1Y" RELATED [OMIM:611878] synonym: "cardiomyopathy, dilated, type 1Y" EXACT [MONDORULE:4, OMIM:611878] synonym: "CMD1Y" EXACT [DOID:0110457, MONDO:Lexical, OMIM:611878] synonym: "dilated cardiomyopathy type 1Y" EXACT [DOID:0110457, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in TPM1" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction 9" RELATED [OMIM:611878] +synonym: "TPM1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110457 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110457", source="MONDO:subClassOf"} xref: MESH:C567507 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -248432,6 +251418,8 @@ synonym: "cardiomyopathy, dilated, 1Z; CMD1Z" RELATED [OMIM:611879] synonym: "cardiomyopathy, dilated, type 1Z" EXACT [MONDORULE:4, OMIM:611879] synonym: "CMD1Z" EXACT [DOID:0110434, MONDO:Lexical, OMIM:611879] synonym: "dilated cardiomyopathy type 1Z" EXACT [DOID:0110434, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in TNNC1" EXACT [MONDO:design_pattern] +synonym: "TNNC1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110434 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110434", source="MONDO:subClassOf"} xref: MESH:C567506 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -248510,7 +251498,9 @@ synonym: "ciliary dyskinesia, primary, 7" RELATED [MONDO:Lexical, OMIM:611884] synonym: "ciliary dyskinesia, primary, 7, with or without situs inversus" RELATED [OMIM:611884] synonym: "ciliary dyskinesia, primary, 7; CILD7" RELATED [OMIM:611884] synonym: "ciliary dyskinesia, primary, type 7" EXACT [MONDORULE:1, OMIM:611884] +synonym: "DNAH11 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 7 with or without situs inversus" EXACT [DOID:0110605] +synonym: "primary ciliary dyskinesia caused by mutation in DNAH11" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 7" EXACT [DOID:0110605, MONDORULE:1] xref: DOID:0110605 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110605"} @@ -248582,7 +251572,9 @@ synonym: "ALS9" EXACT [DOID:0060200, OMIM:611895] synonym: "ALS9" RELATED [MONDO:Lexical, OMIM:611895] synonym: "amyotrophic lateral sclerosis 9" EXACT [DOID:0060200, MONDO:Lexical, OMIM:611895] synonym: "amyotrophic lateral sclerosis 9; ALS9" RELATED [OMIM:611895] +synonym: "amyotrophic lateral sclerosis caused by mutation in ANG" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 9" EXACT [MONDORULE:1, OMIM:611895] +synonym: "ANG amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0060200 {source="MONDO:equivalentTo"} xref: GARD:0010498 {source="MONDO:equivalentTo"} xref: MESH:C567499 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -248625,7 +251617,7 @@ xref: OMIM:611907 {source="Orphanet:209970", source="MONDO:equivalentTo", source xref: Orphanet:209970 {source="OMIM:611907", source="MONDO:equivalentTo"} xref: SCTID:718752007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C2677843 {source="OMIM:611907", source="NCBI:mim2gene_medline", source="Orphanet:209970", source="MONDO:equivalentTo"} -is_a: MONDO:0016227 {source="OMIM:611907", source="Orphanet:209970", source="linkedlifedata"} ! hereditary episodic ataxia +is_a: MONDO:0016227 {source="DOID:0050995", source="OMIM:611907", source="Orphanet:209970", source="linkedlifedata"} ! hereditary episodic ataxia property_value: confidence "1.333333333333333" xsd:double [Term] @@ -248658,7 +251650,7 @@ xref: UMLS:C3552491 {source="OMIM:611913"} is_a: MONDO:0000761 {source="DC-OMIM:611913"} ! syndrome caused by partial chromosomal deletion is_a: MONDO:0005260 {source="DC-OMIM:611913", source="MONDOLEX:0012756", source="OMIM:611913"} ! autism (disease) is_a: MONDO:0016894 {source="Orphanet:261197"} ! partial deletion of the short arm of chromosome 16 -is_a: MONDO:0019040 {source="MESH:C579850", source="MONDO:Redundant", source="Orphanet:261197/inferred", source="linkedlife/inferred"} ! chromosomal anomaly +is_a: MONDO:0019040 {source="MESH:C579850", source="MONDO:Redundant", source="Orphanet:261197/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! chromosomal anomaly property_value: confidence "8.333333333333334" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10740/16p112-deletion-syndrome xsd:anyURI {source="GARD:0010740"} @@ -248684,7 +251676,9 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0012758 name: prostate cancer, hereditary, 13 def: "Any familial prostate cancer in which the cause of the disease is a mutation in the MSMB gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial prostate cancer caused by mutation in MSMB" EXACT [MONDO:design_pattern] synonym: "HPC13" RELATED [MONDO:Lexical, OMIM:611928] +synonym: "MSMB familial prostate cancer" EXACT [MONDO:design_pattern] synonym: "prostate cancer, hereditary, 13" EXACT [MONDO:Lexical, OMIM:611928] synonym: "prostate cancer, hereditary, 13; HPC13" RELATED [OMIM:611928] synonym: "prostate cancer, hereditary, type 13" EXACT [MONDORULE:2, OMIM:611928] @@ -248760,6 +251754,8 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10360/chromos id: MONDO:0012762 name: catecholaminergic polymorphic ventricular tachycardia 2 def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CASQ2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CASQ2 catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern] +synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CASQ2" EXACT [MONDO:design_pattern] synonym: "catecholaminergic polymorphic ventricular tachycardia type 2" EXACT [DOID:0060676, MONDORULE:1] synonym: "CPVT2" RELATED [MONDO:Lexical, OMIM:611938] synonym: "CVPT2" EXACT [DOID:0060676] @@ -248782,6 +251778,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15 id: MONDO:0012763 name: epilepsy, childhood absence, susceptibility to, 6 def: "Any childhood absence epilepsy in which the cause of the disease is a mutation in the CACNA1H gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CACNA1H childhood absence epilepsy" EXACT [MONDO:design_pattern] +synonym: "childhood absence epilepsy caused by mutation in CACNA1H" EXACT [MONDO:design_pattern] synonym: "ECA6" RELATED [MONDO:Lexical, OMIM:611942] synonym: "epilepsy, childhood absence, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:611942] synonym: "epilepsy, childhood absence, susceptibility to, 6; ECA6" RELATED [OMIM:611942] @@ -248815,7 +251813,7 @@ xref: OMIM:611943 {source="Orphanet:420741", source="DOID:0090113", source="MOND xref: Orphanet:420741 {source="DOID:0090113", source="OMIM:611943", source="MONDO:equivalentTo"} xref: UMLS:C2677792 {source="Orphanet:420741", source="NCBI:mim2gene_medline", source="OMIM:611943", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} is_a: MONDO:0015707 {source="Orphanet:420741"} ! DNA repair defect other than combined T-cell and B-cell immunodeficiencies -is_a: MONDO:0020045 {source="Orphanet:420741"} ! autosomal recessive cerebellar ataxia due to a DNA repair defect +is_a: MONDO:0020045 {source="EFO:0009055", source="Orphanet:420741"} ! autosomal recessive cerebellar ataxia due to a DNA repair defect relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26661 {source="mim2gene_medgen"} ! RNF168 property_value: confidence "33.28571428571429" xsd:double @@ -248850,7 +251848,7 @@ xref: OMIM:611945 {source="ORDO:171612/e", source="Orphanet:171612", source="DOI xref: Orphanet:171612 {source="DOID:0110788", source="OMIM:611945", source="MONDO:equivalentTo"} xref: UMLS:C2936880 {source="ORDO:171612/e", source="NCBI:mim2gene_medline", source="Orphanet:171612", source="MEDGEN:kboom-pr98-c99", source="OMIM:611945", source="MONDO:equivalentTo"} is_a: MONDO:0015088 {source="Orphanet:171612"} ! autosomal dominant pure spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:611945", source="Orphanet:171612/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110788", source="MESH:C567931", source="MONDO:Redundant", source="OMIM:611945", source="Orphanet:171612/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.611111111111114" xsd:double [Term] @@ -248858,7 +251856,9 @@ id: MONDO:0012767 name: age related macular degeneration 11 def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the CST3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "age related macular degeneration type 11" EXACT [DOID:0110023, MONDORULE:2] +synonym: "age-related macular degeneration caused by mutation in CST3" EXACT [MONDO:design_pattern] synonym: "ARMD11" EXACT [DOID:0110023, MONDO:Lexical, OMIM:611953] +synonym: "CST3 age-related macular degeneration" EXACT [MONDO:design_pattern] synonym: "macular DEGENERATION, AGE-RELATED, 11" RELATED [MONDO:Lexical, OMIM:611953] synonym: "macular DEGENERATION, AGE-RELATED, 11; ARMD11" RELATED [OMIM:611953] synonym: "macular Degeneration, Age-Related, type 11" EXACT [MONDORULE:2, OMIM:611953] @@ -248922,6 +251922,8 @@ synonym: "ASRT7" RELATED [MONDO:Lexical, OMIM:611960] synonym: "asthma-related traits, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:611960] synonym: "asthma-RELATED traits, susceptibility to, 7; ASRT7" RELATED [OMIM:611960] synonym: "asthma-Related traits, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:611960] +synonym: "CHI3L1 inherited susceptibility to asthma" EXACT [MONDO:design_pattern] +synonym: "inherited susceptibility to asthma caused by mutation in CHI3L1" EXACT [MONDO:design_pattern] xref: OMIM:611960 {source="MONDO:equivalentTo"} xref: UMLS:C2677770 {source="OMIM:611960", source="NCBI:mim2gene_medline"} is_a: MONDO:0010940 {source="MONDO:cjm", source="MONDOLEX:0012771"} ! inherited susceptibility to asthma @@ -248983,9 +251985,11 @@ property_value: confidence "6.499999999999996" xsd:double id: MONDO:0012775 name: thrombocytopenia 4 def: "Any thrombocytopenia in which the cause of the disease is a mutation in the CYCS gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CYCS thrombocytopenia" EXACT [MONDO:design_pattern] synonym: "THC4" RELATED [MONDO:Lexical, OMIM:612004] synonym: "thrombocytopenia 4" EXACT [MONDO:Lexical, OMIM:612004] synonym: "thrombocytopenia 4; THC4" RELATED [OMIM:612004] +synonym: "thrombocytopenia caused by mutation in CYCS" EXACT [MONDO:design_pattern] synonym: "thrombocytopenia type 4" EXACT [MONDORULE:1, OMIM:612004] synonym: "thrombocytopenia, autosomal dominant, 4" RELATED [OMIM:612004] xref: MESH:C567438 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -249155,7 +252159,7 @@ synonym: "pyloric stenosis, infantile hypertrophic, 3; IHPS3" RELATED [OMIM:6120 xref: MESH:C567435 {source="MONDO:equivalentTo"} xref: OMIM:612017 {source="MONDO:equivalentTo"} xref: UMLS:C2677588 {source="NCBI:mim2gene_medline", source="OMIM:612017", source="MONDO:equivalentTo"} -is_a: MONDO:0001560 {source="DC-OMIM:612017", source="MONDOLEX:0012785", source="OMIM:612017"} ! hypertrophic pyloric stenosis +is_a: MONDO:0001560 {source="DC-OMIM:612017", source="MESH:C567435", source="MONDOLEX:0012785", source="OMIM:612017"} ! hypertrophic pyloric stenosis is_a: MONDO:0003847 ! inherited genetic disease property_value: confidence "3.8773052888279222" xsd:double @@ -249190,11 +252194,13 @@ def: "This syndrome is characterised by progressive spastic paraplegia and dista subset: ordo_disease {source="Orphanet:139480"} synonym: "autosomal recessive spastic paraplegia 39" EXACT [DOID:0110790] synonym: "autosomal recessive spastic paraplegia type 39" EXACT [DOID:0110790] +synonym: "hereditary spastic paraplegia caused by mutation in PNPLA6" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 39" EXACT [DOID:0110790, MONDORULE:2] synonym: "NTE related motor neuron disorder" RELATED [GARD:0004924] synonym: "NTE-Related motor neuron disorder" RELATED [OMIM:612020] synonym: "NTE-related motor neuron disorder" EXACT [DOID:0110790] synonym: "NTEMND" EXACT [DOID:0110790] +synonym: "PNPLA6 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 39" RELATED [GARD:0004924] synonym: "spastic paraplegia 39, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612020] synonym: "spastic paraplegia 39, autosomal recessive; SPG39" RELATED [OMIM:612020] @@ -249212,7 +252218,7 @@ xref: UMLS:C2677586 {source="Orphanet:139480", source="NCBI:mim2gene_medline", s xref: UMLS:C4304963 {source="MEDGEN:kboom-pr96-c96", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:139480"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0018118 {source="Orphanet:139480"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:612020", source="Orphanet:139480/inferred", source="linkedlifedata"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110790", source="MESH:C567433", source="MONDO:Redundant", source="OMIM:612020", source="Orphanet:139480/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16268 ! PNPLA6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16268 {source="mim2gene_medgen"} ! PNPLA6 @@ -249240,9 +252246,11 @@ synonym: "dystonia 16" EXACT [MONDO:Lexical, OMIM:612067] synonym: "dystonia 16; DYT16" RELATED [OMIM:612067] synonym: "Dystonia type 16" EXACT [MONDORULE:2, OMIM:612067, Orphanet:210571] synonym: "dystonia type 16" EXACT [DOID:0090048, MONDORULE:2] +synonym: "dystonic disorder caused by mutation in PRKRA" EXACT [MONDO:design_pattern] synonym: "DYT-PRKRA" EXACT [PMID:18243799] synonym: "DYT16" EXACT [MONDO:Lexical, OMIM:612067, Orphanet:210571] synonym: "early-onset dystonia parkinsonism" EXACT [Orphanet:210571] +synonym: "PRKRA dystonic disorder" EXACT [MONDO:design_pattern] synonym: "Young-onset dystonia-(parkinsonism)" RELATED [GARD:0010539] xref: DOID:0090048 {source="MONDO:equivalentTo"} xref: GARD:0010539 {source="MONDO:equivalentTo"} @@ -249253,7 +252261,7 @@ xref: Orphanet:210571 {source="OMIM:612067", source="DOID:0090048", source="MOND xref: SCTID:722435003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C2677567 {source="OMIM:612067", source="NCBI:mim2gene_medline", source="Orphanet:210571", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000478 {source="DOID:0090048"} ! multifocal dystonia -is_a: MONDO:0003441 {source="MESH:C567430", source="MONDO:Redundant", source="OMIM:612067", source="linkedlifedata"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090048/inferred", source="MESH:C567430", source="MONDO:Redundant", source="OMIM:612067", source="linkedlifedata"} ! dystonic disorder is_a: MONDO:0017635 {source="MONDO:Redundant", source="Orphanet:210571"} ! rare parkinsonian syndrome due to neurodegenerative disease is_a: MONDO:0017661 {source="Orphanet:210571"} ! rare parkinsonian syndrome due to genetic neurodegenerative disease is_a: MONDO:0018329 {source="Orphanet:210571"} ! persistent combined dystonia @@ -249273,9 +252281,11 @@ synonym: "amyotrophic lateral sclerosis 10" EXACT [DOID:0060201, OMIM:612069] synonym: "amyotrophic lateral sclerosis 10 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:612069] synonym: "amyotrophic lateral sclerosis 10 with or without frontotemporal dementia; ALS10" RELATED [OMIM:612069] synonym: "amyotrophic lateral sclerosis 10, with or without frontotemporal dementia" EXACT [DOID:0060201, OMIM:612069] +synonym: "amyotrophic lateral sclerosis caused by mutation in TARDBP" EXACT [MONDO:design_pattern] synonym: "frontotemporal dementia with Tdp43 inclusions, Tardbp-Related" RELATED [OMIM:612069] synonym: "frontotemporal lobar Degeneration with Tdp43 inclusions, Tardbp-Related" RELATED [OMIM:612069] synonym: "Ftld-TDP, Tardbp-Related" RELATED [OMIM:612069] +synonym: "TARDBP amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] synonym: "TARDBP-related frontotemporal lobar degeneration with Tdp43 inclusions" EXACT [DOID:0060201, OMIM:612069] xref: DOID:0060201 {source="MONDO:equivalentTo"} xref: GARD:0010497 {source="MONDO:equivalentTo"} @@ -249288,7 +252298,7 @@ xref: UMLS:C3148872 {source="OMIM:612069"} xref: UMLS:C3150169 {source="OMIM:612069"} xref: UMLS:C3150171 {source="OMIM:612069"} xref: UMLS:C3502417 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004976 {source="MESH:C567429", source="MONDO:Redundant", source="OMIM:612069"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0060201", source="MESH:C567429", source="MONDO:Redundant", source="OMIM:612069"} ! amyotrophic lateral sclerosis is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis is_a: MONDO:0017161 {source="ORDO:275872/btnt"} ! frontotemporal dementia with motor neuron disease intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis @@ -249339,6 +252349,7 @@ synonym: "encephalomyopathic type with renal tubulopathy" RELATED [GARD:0013200] synonym: "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy)" RELATED [MONDO:Lexical, OMIM:612075] synonym: "mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy); MTDPS8A" RELATED [OMIM:612075] synonym: "mitochondrial DNA depletion syndrome 8B (Mngie type)" RELATED [OMIM:612075] +synonym: "mitochondrial DNA depletion syndrome caused by mutation in RRM2B" EXACT [MONDO:design_pattern] synonym: "mitochondrial DNA depletion syndrome type 8a" EXACT [DOID:0080127, MONDORULE:4] synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy" RELATED [Orphanet:255235] synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic, with renal tubulopathy, autosomal recessive" RELATED [OMIM:612075] @@ -249346,6 +252357,7 @@ synonym: "mitochondrial neurogastrointestinal encephalopathy syndrome, Rrm2B-Rel synonym: "Mngie, Rrm2B-Related" RELATED [OMIM:612075] synonym: "mtDNA depletion syndrome, encephalomyopathic form with renal tubulopathy" EXACT [Orphanet:255235] synonym: "MTDPS8A" RELATED [MONDO:Lexical, OMIM:612075] +synonym: "RRM2B mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern] synonym: "RRM2B-related mitochondrial DNA depletion syndrome" RELATED [GARD:0013200] xref: DOID:0080127 {source="MONDO:equivalentTo"} xref: GARD:0013200 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -249420,9 +252432,11 @@ id: MONDO:0012796 name: retinitis pigmentosa 41 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PROM1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010379"} +synonym: "PROM1 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinal Degeneration, autosomal recessive, prominin-Related" RELATED [OMIM:612095] synonym: "retinitis pigmentosa 41" EXACT [MONDO:Lexical, OMIM:612095] synonym: "retinitis pigmentosa 41; RP41" RELATED [OMIM:612095] +synonym: "retinitis pigmentosa caused by mutation in PROM1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 41" EXACT [DOID:0110376, MONDORULE:2, OMIM:612095] synonym: "RP 41" RELATED [GARD:0010379] synonym: "RP41" EXACT [DOID:0110376, MONDO:Lexical, OMIM:612095] @@ -249449,7 +252463,7 @@ xref: OMIM:612096 {source="MONDO:equivalentTo"} xref: Orphanet:2794 {source="OMIM:612096"} xref: UMLS:C2677515 {source="NCBI:mim2gene_medline", source="OMIM:612096", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0005349 {source="DC-OMIM:612096", source="OMIM:612096"} ! otosclerosis (disease) +is_a: MONDO:0005349 {source="DC-OMIM:612096", source="MESH:C567421", source="OMIM:612096"} ! otosclerosis (disease) [Term] id: MONDO:0012798 @@ -249464,11 +252478,13 @@ is_a: MONDO:0003847 ! inherited genetic disease id: MONDO:0012799 name: hypertrophic cardiomyopathy 11 def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ACTC1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "cardiomyopathy familial hypertrophic 11" EXACT [DOID:0110317] synonym: "cardiomyopathy, familial hypertrophic, 11" RELATED [MONDO:Lexical, OMIM:612098] synonym: "cardiomyopathy, familial hypertrophic, 11; CMH11" RELATED [OMIM:612098] synonym: "cardiomyopathy, familial hypertrophic, type 11" EXACT [MONDORULE:2, OMIM:612098] synonym: "CMH11" EXACT [DOID:0110317, MONDO:Lexical, OMIM:612098] +synonym: "hypertrophic cardiomyopathy caused by mutation in ACTC1" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 11" EXACT [DOID:0110317, MONDORULE:2] xref: DOID:0110317 {source="MONDO:equivalentTo"} xref: MESH:C567419 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -249476,7 +252492,7 @@ xref: OMIM:612098 {source="DOID:0110317", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:612098"} xref: UMLS:C2677506 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612098"} is_a: MONDO:0005045 {source="DC-OMIM:612098", source="DOID:0110317", source="MESH:C567419/inferred", source="MONDO:Redundant", source="OMIM:612098"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDOLEX:0012799", source="OMIM", source="OMIM:612098"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="MESH:C567419", source="MONDOLEX:0012799", source="OMIM", source="OMIM:612098"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/143 ! ACTC1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/143 {source="mim2gene_medgen"} ! ACTC1 @@ -249572,6 +252588,8 @@ synonym: "cardiomyopathy, familial hypertrophic, 12" RELATED [MONDO:Lexical, OMI synonym: "cardiomyopathy, familial hypertrophic, 12; CMH12" RELATED [OMIM:612124] synonym: "cardiomyopathy, familial hypertrophic, type 12" EXACT [MONDORULE:2, OMIM:612124] synonym: "CMH12" EXACT [DOID:0110318, MONDO:Lexical, OMIM:612124] +synonym: "CSRP3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] +synonym: "hypertrophic cardiomyopathy caused by mutation in CSRP3" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 12" EXACT [DOID:0110318, MONDORULE:2] xref: DOID:0110318 {source="MONDO:equivalentTo"} xref: OMIM:612124 {source="DOID:0110318", source="MONDO:equivalentTo"} @@ -249651,12 +252669,14 @@ property_value: confidence "4.277777777777778" xsd:double id: MONDO:0012808 name: dilated cardiomyopathy 1AA def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTN2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ACTN2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction" RELATED [MONDO:Lexical, OMIM:612158] synonym: "cardiomyopathy, dilated, 1AA, with or without left ventricular noncompaction; CMD1AA" RELATED [OMIM:612158] synonym: "cardiomyopathy, familial hypertrophic, 23, with or without ventricular noncompaction" RELATED [OMIM:612158] synonym: "CMD1AA" EXACT [DOID:0110428, MONDO:Lexical, OMIM:612158] synonym: "dilated cardiomyopathy 1AA with or without left ventricular noncompaction" EXACT [DOID:0110428] synonym: "dilated cardiomyopathy type 1AA" EXACT [DOID:0110428, MONDORULE:9] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in ACTN2" EXACT [MONDO:design_pattern] xref: DOID:0110428 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="MONDO:subClassOf", source="DOID:0110428"} xref: MESH:C567407 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -249718,10 +252738,12 @@ name: epileptic encephalopathy, early infantile, 4 def: "Early infantile epileptic encephalopathy 4 (EIEE4) is a form of early infantile epileptic encephalopathy , which refers to a group of neurological conditions characterized by severe seizures beginning in infancy. EIEE4, specifically, is often associated with partial complex or tonic-clonic seizures , although other seizure types have been reported. Other signs and symptoms mayinclude intellectual disability, reduced muscle tone (hypotonia), hypsarrhythmia (an irregular pattern seen on EEG ), dyskinesia (involuntary movement of the body), and spastic di- or quadriplegia . EIEE4 is caused by changes ( mutations ) in the STXBP1 gene and is inherited in an autosomal dominant manner. Treatment is based on the signs and symptoms present in each person. For example, certain medications are often prescribed to help control seizures, although they are not always effective in all people with the condition." [https://rarediseases.info.nih.gov/diseases/12900/early-infantile-epileptic-encephalopathy-4] subset: gard_rare {source="GARD:0012900"} synonym: "early infantile epileptic encephalopathy 4" RELATED [GARD:0012900] +synonym: "early infantile epileptic encephalopathy caused by mutation in STXBP1" EXACT [MONDO:design_pattern] synonym: "EIEE4" RELATED [MONDO:Lexical, OMIM:612164] synonym: "epileptic encephalopathy, early infantile, 4" EXACT [MONDO:Lexical, OMIM:612164] synonym: "epileptic encephalopathy, early infantile, 4; EIEE4" RELATED [OMIM:612164] synonym: "epileptic encephalopathy, early infantile, type 4" EXACT [MONDORULE:1, OMIM:612164] +synonym: "STXBP1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] synonym: "STXBP1-related early-onset encephalopathy" RELATED [GARD:0012900] xref: GARD:0012900 {source="MONDO:equivalentTo"} xref: MESH:C567404 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -249794,6 +252816,8 @@ synonym: "ATFB6" RELATED [MONDO:Lexical, OMIM:612201] synonym: "atrial fibrillation, familial, 6" EXACT [MONDO:Lexical, OMIM:612201] synonym: "atrial fibrillation, familial, 6; ATFB6" RELATED [OMIM:612201] synonym: "atrial fibrillation, familial, type 6" EXACT [MONDORULE:1, OMIM:612201] +synonym: "familial atrial fibrillation caused by mutation in NPPA" EXACT [MONDO:design_pattern] +synonym: "NPPA familial atrial fibrillation" EXACT [MONDO:design_pattern] xref: MESH:C567400 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612201 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:612201", source="MONDO:subClassOf"} @@ -249815,6 +252839,7 @@ synonym: "Ewing sarcoma; ES" RELATED [OMIM:612219] synonym: "Ewing tumor" RELATED [GARD:0006390] synonym: "Ewing's family localized tumor" EXACT [DOID:3369] synonym: "Ewing's sarcoma" EXACT [NCIT:C4817] +synonym: "Ewing's sarcoma/peripheral primitive neuroectodermal tumor" EXACT [DOID:3369] synonym: "Ewing's tumor" EXACT [NCIT:C4817] synonym: "Ewings sarcoma" EXACT [DOID:3369] synonym: "Ewings sarcoma-primitive neuroectodermal tumor" RELATED [DOID:3369] @@ -249825,6 +252850,7 @@ synonym: "localized Ewing's tumor" RELATED [DOID:3369] synonym: "localized peripheral primitive neuroectodermal tumor" RELATED [DOID:3369] synonym: "neuroepithelioma, peripheral" RELATED [OMIM:612219] synonym: "peripheral primitive neuroectodermal tumor" EXACT [DOID:3369] +synonym: "PNET of Thoracopulmonary Region" EXACT [DOID:3369] synonym: "sarcoma, Ewing's" RELATED [GARD:0006390] xref: DOID:0050608 {source="EFO:0000174", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: DOID:3369 {source="MONDO:equivalentTo"} @@ -249930,11 +252956,13 @@ property_value: confidence "3.2857142857142847" xsd:double id: MONDO:0012820 name: colorectal cancer, susceptibility to, 3 def: "Any colorectal cancer in which the cause of the disease is a mutation in the SMAD7 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "colorectal cancer caused by mutation in SMAD7" EXACT [MONDO:design_pattern] synonym: "colorectal cancer, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:612229] synonym: "colorectal cancer, susceptibility to, 3; CRCS3" RELATED [OMIM:612229] synonym: "colorectal cancer, susceptibility to, on chromosome 18" RELATED [OMIM:612229] synonym: "colorectal cancer, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612229] synonym: "CRCS3" RELATED [MONDO:Lexical, OMIM:612229] +synonym: "SMAD7 colorectal cancer" EXACT [MONDO:design_pattern] synonym: "susceptibility to colorectal cancer 3" RELATED [OMIM:612229] xref: OMIM:612229 {source="MONDO:equivalentTo"} xref: UMLS:C2677123 {source="NCBI:mim2gene_medline", source="OMIM:612229"} @@ -249983,7 +253011,9 @@ name: hypomyelinating leukodystrophy 4 def: "Any leukodystrophy in which the cause of the disease is a mutation in the HSPD1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:280288"} synonym: "HLD4" EXACT [DOID:0060789, MONDO:Lexical, OMIM:612233] +synonym: "HSPD1 leukodystrophy" EXACT [MONDO:design_pattern] synonym: "hypomyelinating leukodystrophy type 4" EXACT [DOID:0060789, MONDORULE:1] +synonym: "leukodystrophy caused by mutation in HSPD1" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 4" RELATED [MONDO:Lexical, OMIM:612233] synonym: "leukodystrophy, hypomyelinating, 4; HLD4" RELATED [OMIM:612233] synonym: "leukodystrophy, hypomyelinating, type 4" EXACT [MONDORULE:1, OMIM:612233] @@ -250000,7 +253030,7 @@ xref: Orphanet:280270 {source="OMIM:612233", source="MONDO:subClassOf"} xref: Orphanet:280288 {source="OMIM:612233", source="DOID:0060789", source="MONDO:equivalentTo"} xref: UMLS:C2677109 {source="OMIM:612233", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017226 {source="Orphanet:280288"} ! Pelizaeus-Merzbacher-like disease -is_a: MONDO:0019046 {source="MONDO:Redundant", source="OMIM:612233", source="Orphanet:280288/inferred"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0060789", source="DOID:0060789/inferred", source="MONDO:Redundant", source="OMIM:612233", source="Orphanet:280288/inferred"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5261 ! HSPD1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5261 {source="mim2gene_medgen"} ! HSPD1 @@ -250063,6 +253093,8 @@ synonym: "ATFB7" RELATED [MONDO:Lexical, OMIM:612240] synonym: "atrial fibrillation, familial, 7" EXACT [MONDO:Lexical, OMIM:612240] synonym: "atrial fibrillation, familial, 7; ATFB7" RELATED [OMIM:612240] synonym: "atrial fibrillation, familial, type 7" EXACT [MONDORULE:1, OMIM:612240] +synonym: "familial atrial fibrillation caused by mutation in KCNA5" EXACT [MONDO:design_pattern] +synonym: "KCNA5 familial atrial fibrillation" EXACT [MONDO:design_pattern] xref: MESH:C567389 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612240 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="MONDO:subClassOf", source="OMIM:612240"} @@ -250126,9 +253158,11 @@ property_value: confidence "2.1078421052631597" xsd:double id: MONDO:0012831 name: inflammatory bowel disease 13 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the ABCB1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ABCB1 inflammatory bowel disease" EXACT [MONDO:design_pattern] synonym: "IBD13" EXACT [DOID:0110893, MONDO:Lexical, OMIM:612244] synonym: "inflammatory bowel disease 13" EXACT [MONDO:Lexical, OMIM:612244] synonym: "inflammatory bowel disease 13; IBD13" RELATED [OMIM:612244] +synonym: "inflammatory bowel disease caused by mutation in ABCB1" EXACT [MONDO:design_pattern] synonym: "inflammatory bowel disease type 13" EXACT [DOID:0110893, MONDORULE:2, OMIM:612244] xref: DOID:0110893 {source="MONDO:equivalentTo"} xref: MESH:C567384 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -250149,7 +253183,9 @@ def: "Any inflammatory bowel disease in which the cause of the disease is a muta synonym: "IBD14" EXACT [DOID:0110895, MONDO:Lexical, OMIM:612245] synonym: "inflammatory bowel disease 14" EXACT [MONDO:Lexical, OMIM:612245] synonym: "inflammatory bowel disease 14; IBD14" RELATED [OMIM:612245] +synonym: "inflammatory bowel disease caused by mutation in IRF5" EXACT [MONDO:design_pattern] synonym: "inflammatory bowel disease type 14" EXACT [DOID:0110895, MONDORULE:2, OMIM:612245] +synonym: "IRF5 inflammatory bowel disease" EXACT [MONDO:design_pattern] xref: DOID:0110895 {source="MONDO:equivalentTo"} xref: MESH:C567383 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612245 {source="DOID:0110895", source="MONDO:equivalentTo"} @@ -250181,9 +253217,9 @@ xref: OMIM:612247 {source="ORDO:93262/e", source="Orphanet:93262", source="DOID: xref: Orphanet:93262 {source="OMIM:612247", source="DOID:0111161", source="MONDO:equivalentTo"} xref: SCTID:702361006 {source="MONDO:kboom-pr-1.00/0.74/5.75", source="MONDO:equivalentTo"} xref: UMLS:C2677099 {source="NCBI:mim2gene_medline", source="OMIM:612247", source="Orphanet:93262"} -is_a: MONDO:0000426 {source="DOID:0111161", source="linkedlife"} ! autosomal dominant disease +is_a: MONDO:0000426 {source="DOID:0111161", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0005363 {source="NCIT:C38145"} ! focal segmental glomerulosclerosis -is_a: MONDO:0005381 {source="DOID:0111161", source="MESH:C567382/inferred", source="Orphanet:93262/inferred", source="linkedlife/inferred"} ! bone disease +is_a: MONDO:0005381 {source="DOID:0111161", source="MESH:C567382/inferred", source="Orphanet:93262/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bone disease is_a: MONDO:0015338 {source="Orphanet:93262"} ! syndromic craniosynostosis is_a: MONDO:0020254 {source="Orphanet:93262"} ! craniostenosis associated with a strabismus relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3690 {source="mim2gene_medgen"} ! FGFR3 @@ -250293,8 +253329,10 @@ id: MONDO:0012840 name: inflammatory bowel disease 17 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL23R gene." [MONDO:patterns/disease_series_by_gene] synonym: "IBD17" EXACT [DOID:0110883, MONDO:Lexical, OMIM:612261] +synonym: "IL23R inflammatory bowel disease" EXACT [MONDO:design_pattern] synonym: "inflammatory bowel disease 17" EXACT [MONDO:Lexical, OMIM:612261] synonym: "inflammatory bowel disease 17; IBD17" RELATED [OMIM:612261] +synonym: "inflammatory bowel disease caused by mutation in IL23R" EXACT [MONDO:design_pattern] synonym: "inflammatory bowel disease type 17" EXACT [DOID:0110883, MONDORULE:2, OMIM:612261] xref: DOID:0110883 {source="MONDO:equivalentTo"} xref: MESH:C567378 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -250341,10 +253379,12 @@ property_value: confidence "1.6325000000000003" xsd:double id: MONDO:0012843 name: epilepsy, childhood absence, susceptibility to, 5 def: "Any childhood absence epilepsy in which the cause of the disease is a mutation in the GABRB3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "childhood absence epilepsy caused by mutation in GABRB3" EXACT [MONDO:design_pattern] synonym: "ECA5" RELATED [MONDO:Lexical, OMIM:612269] synonym: "epilepsy, childhood absence, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:612269] synonym: "epilepsy, childhood absence, susceptibility to, 5; ECA5" RELATED [OMIM:612269] synonym: "epilepsy, childhood absence, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612269] +synonym: "GABRB3 childhood absence epilepsy" EXACT [MONDO:design_pattern] synonym: "susceptibility to childhood absence epilepsy 5" RELATED [OMIM:612269] xref: OMIM:612269 {source="MONDO:equivalentTo"} xref: Orphanet:64280 {source="OMIM:612269", source="MONDO:subClassOf"} @@ -250382,7 +253422,9 @@ synonym: "inflammatory bowel disease (Crohn disease) 19" EXACT [DOID:0110890] synonym: "inflammatory bowel disease (Crohn disease) 19; IBD19" RELATED [OMIM:612278] synonym: "inflammatory bowel disease 19" EXACT [MONDO:Lexical, OMIM:612278] synonym: "inflammatory bowel disease 19; IBD19" RELATED [OMIM:612278] +synonym: "inflammatory bowel disease caused by mutation in IRGM" EXACT [MONDO:design_pattern] synonym: "inflammatory bowel disease type 19" EXACT [DOID:0110890, MONDORULE:2, OMIM:612278] +synonym: "IRGM inflammatory bowel disease" EXACT [MONDO:design_pattern] xref: DOID:0110890 {source="MONDO:equivalentTo"} xref: MESH:C567372 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612278 {source="DOID:0110890", source="MONDO:equivalentTo"} @@ -250437,7 +253479,9 @@ property_value: confidence "0.04999999999999982" xsd:double id: MONDO:0012848 name: Meckel syndrome, type 6 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the CC2D2A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CC2D2A Meckel syndrome" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome 6" RELATED [DOID:0070120] +synonym: "Meckel syndrome caused by mutation in CC2D2A" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 6" EXACT [MONDO:Lexical, OMIM:612284] synonym: "MECKEL syndrome, type 6; MKS6" RELATED [OMIM:612284] synonym: "Meckel-Gruber syndrome, type 6" EXACT [DOID:0070120] @@ -250458,10 +253502,12 @@ property_value: confidence "2.3877919141235715" xsd:double id: MONDO:0012849 name: Joubert syndrome 9 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CC2D2A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CC2D2A Joubert syndrome" EXACT [MONDO:design_pattern] synonym: "JBTS9" EXACT [DOID:0111004, MONDO:Lexical, OMIM:612285] synonym: "Joubert syndrome 9" EXACT [MONDO:Lexical, OMIM:612285] synonym: "Joubert syndrome 9/15, digenic" RELATED [OMIM:612285] synonym: "Joubert syndrome 9; JBTS9" RELATED [OMIM:612285] +synonym: "Joubert syndrome caused by mutation in CC2D2A" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 9" EXACT [DOID:0111004, MONDORULE:1, OMIM:612285] xref: DOID:0111004 {source="MONDO:equivalentTo"} xref: MESH:C567364 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -250586,9 +253632,11 @@ property_value: confidence "8.6" xsd:double id: MONDO:0012855 name: Joubert syndrome 8 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the ARL13B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ARL13B Joubert syndrome" EXACT [MONDO:design_pattern] synonym: "JBTS8" EXACT [DOID:0111003, MONDO:Lexical, OMIM:612291] synonym: "Joubert syndrome 8" EXACT [MONDO:Lexical, OMIM:612291] synonym: "Joubert syndrome 8; JBTS8" RELATED [OMIM:612291] +synonym: "Joubert syndrome caused by mutation in ARL13B" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 8" EXACT [DOID:0111003, MONDORULE:1, OMIM:612291] xref: DOID:0111003 {source="MONDO:equivalentTo"} xref: MESH:C567358 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -250607,7 +253655,7 @@ def: "Birk-Barel syndrome is an inherited condition characterized by intellectua subset: gard_rare {source="GARD:0010358"} subset: ordo_disease {source="Orphanet:166108"} synonym: "Birk Barel mental retardation dysmorphism syndrome" RELATED [GARD:0010358] -synonym: "BIRK-Barel mental retardation DYSMORPHISM syndrome" EXACT [DOID:0050675, OMIM:612292] +synonym: "BIRK-Barel mental retardation dysmorphism syndrome" EXACT [DOID:0050675, OMIM:612292] synonym: "Birk-Barel syndrome" EXACT [OMIM:612292] synonym: "intellectual disability, Birk-Barel type" RELATED [Orphanet:166108] synonym: "intellectual disability-hypotonia-facial dysmorphism syndrome" EXACT [Orphanet:166108] @@ -250719,10 +253767,12 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0012861 name: premature ovarian failure 6 def: "Any primary ovarian failure in which the cause of the disease is a mutation in the FIGLA gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FIGLA primary ovarian failure" EXACT [MONDO:design_pattern] synonym: "Pof6" RELATED [MONDO:Lexical, OMIM:612310] synonym: "premature ovarian failure 6" EXACT [MONDO:Lexical, OMIM:612310] synonym: "premature ovarian failure 6; Pof6" RELATED [OMIM:612310] synonym: "premature ovarian failure type 6" EXACT [MONDORULE:1, OMIM:612310] +synonym: "primary ovarian failure caused by mutation in FIGLA" EXACT [MONDO:design_pattern] xref: MESH:C567351 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612310 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:612310"} @@ -250820,9 +253870,11 @@ def: "Autosomal recessive spastic paraplegia type 35 is a rare form of hereditar subset: ordo_disease {source="Orphanet:171629"} synonym: "autosomal recessive spastic paraplegia 35" EXACT [DOID:0110786] synonym: "autosomal recessive spastic paraplegia type 35" EXACT [DOID:0110786] +synonym: "FA2H hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "FAHN" EXACT [DOID:0110786] synonym: "fatty acid Hydroxylase-associated neurodegeneration" RELATED [OMIM:612319] synonym: "fatty acid hydroxylase-associated neurodegeneration" EXACT [DOID:0110786] +synonym: "hereditary spastic paraplegia caused by mutation in FA2H" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 35" EXACT [DOID:0110786, MONDORULE:2] synonym: "leukodystrophy, dysmyelinating and spastic paraparesis with or without dystonia" EXACT [DOID:0110786] synonym: "leukodystrophy, dysmyelinating, and spastic paraparesis with or without Dystonia" RELATED [OMIM:612319] @@ -250838,7 +253890,7 @@ xref: UMLS:C1823105 {source="OMIM:612319"} xref: UMLS:C3496228 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C3668943 {source="NCBI:mim2gene_medline"} is_a: MONDO:0017915 {source="Orphanet:171629"} ! pure or complex autosomal recessive spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:612319", source="Orphanet:171629/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110786", source="MESH:C567311", source="MONDO:Redundant", source="OMIM:612319", source="Orphanet:171629/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21197 ! FA2H relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21197 {source="mim2gene_medgen"} ! FA2H @@ -250862,14 +253914,17 @@ xref: OMIM:612335 {source="Orphanet:171617", source="DOID:0110789", source="MOND xref: Orphanet:171617 {source="OMIM:612335", source="DOID:0110789", source="MONDO:equivalentTo"} xref: UMLS:C2676732 {source="NCBI:mim2gene_medline", source="OMIM:612335", source="MEDGEN:kboom-pr98-c99", source="Orphanet:171617", source="MONDO:equivalentTo", source="ORDO:171617/e"} is_a: MONDO:0015087 {source="Orphanet:171617"} ! autosomal dominant complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:612335", source="Orphanet:171617/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110789", source="MESH:C567349", source="MONDO:Redundant", source="OMIM:612335", source="Orphanet:171617/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.611111111111114" xsd:double [Term] id: MONDO:0012868 name: thrombophilia due to protein S deficiency, autosomal dominant +def: "Autosomal dominant form of hereditary thrombophilia due to congenital protein S deficiency." [MONDO:design_pattern] comment: Note that ORDO appears to classify as hereditary and acquired. subset: ordo_disease {source="Orphanet:26349"} +synonym: "autosomal dominant hereditary thrombophilia due to congenital protein S deficiency" EXACT [MONDO:design_pattern] +synonym: "hereditary thrombophilia due to congenital protein S deficiency, autosomal dominant" EXACT [MONDO:design_pattern] synonym: "protein S acquired deficiency" RELATED [Orphanet:26349] synonym: "THPH5" RELATED [MONDO:Lexical, OMIM:612336] synonym: "thrombophilia due to protein S deficiency, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612336] @@ -250897,12 +253952,14 @@ name: intellectual disability, autosomal dominant 22 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZBTB18 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 22" EXACT [DOID:0070052] synonym: "autosomal dominant non-syndromic intellectual disability 22" RELATED [DOID:0070052] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in ZBTB18" EXACT [MONDO:design_pattern] synonym: "chromosome 1Q43-q44 deletion syndrome" RELATED [OMIM:612337] synonym: "chromosome 1Qter deletion syndrome" RELATED [OMIM:612337] synonym: "mental retardation, autosomal dominant 22" RELATED [MONDO:Lexical, OMIM:612337] synonym: "mental retardation, autosomal dominant 22; MRD22" RELATED [OMIM:612337] synonym: "mental retardation, autosomal dominant type 22" EXACT [MONDORULE:2, OMIM:612337] synonym: "MRD22" EXACT [DOID:0070052, MONDO:Lexical, OMIM:612337] +synonym: "ZBTB18 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] xref: DOID:0070052 {source="MONDO:equivalentTo"} xref: MESH:C567346 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612337 {source="DOID:0070052", source="MONDO:equivalentTo"} @@ -250932,8 +253989,10 @@ def: "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease i subset: gard_rare {source="GARD:0010364"} synonym: "Jervell and Lange-Nielsen syndrome 2" EXACT [MONDO:Lexical, OMIM:612347] synonym: "Jervell and Lange-Nielsen syndrome 2; JLNS2" RELATED [OMIM:612347] +synonym: "Jervell and Lange-Nielsen syndrome caused by mutation in KCNE1" EXACT [MONDO:design_pattern] synonym: "Jervell and Lange-Nielsen syndrome type 2" EXACT [MONDORULE:1, OMIM:612347] synonym: "JLNS2" RELATED [MONDO:Lexical, OMIM:612347] +synonym: "KCNE1 Jervell and Lange-Nielsen syndrome" EXACT [MONDO:design_pattern] xref: GARD:0010364 {source="MONDO:equivalentTo"} xref: MESH:C567343 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612347 {source="MONDO:equivalentTo"} @@ -251043,22 +254102,24 @@ xref: MESH:C567530 {source="MONDO:equivalentTo"} xref: OMIM:612357 {source="MONDO:equivalentTo"} xref: UMLS:C2700439 {source="NCBI:mim2gene_medline", source="OMIM:612357"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0004985 {source="DC-OMIM:612357", source="MONDO:cjm"} ! bipolar disorder +is_a: MONDO:0004985 {source="DC-OMIM:612357", source="MESH:C567530", source="MONDO:cjm"} ! bipolar disorder property_value: confidence "4.999999999999999" xsd:double [Term] id: MONDO:0012878 name: Cowden syndrome 2 def: "Any Cowden disease in which the cause of the disease is a mutation in the SDHB gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Cowden disease caused by mutation in SDHB" EXACT [MONDO:design_pattern] synonym: "Cowden syndrome 2" EXACT [MONDO:Lexical, OMIM:612359] synonym: "Cowden syndrome 2; CWS2" RELATED [OMIM:612359] synonym: "Cowden syndrome type 2" EXACT [MONDORULE:1, OMIM:612359] synonym: "CWS2" RELATED [MONDO:Lexical, OMIM:612359] +synonym: "SDHB Cowden disease" EXACT [MONDO:design_pattern] xref: MESH:C567337 {source="MONDO:equivalentTo"} xref: OMIM:612359 {source="MONDO:equivalentTo"} xref: Orphanet:201 {source="OMIM:612359", source="MONDO:subClassOf"} xref: UMLS:C3552552 {source="NCBI:mim2gene_medline", source="OMIM:612359", source="MONDO:equivalentTo"} -is_a: MONDO:0016063 {source="DC-OMIM:612359", source="MONDOLEX:0012878", source="OMIM:612359"} ! Cowden disease +is_a: MONDO:0016063 {source="DC-OMIM:612359", source="MESH:C567337", source="MONDOLEX:0012878", source="OMIM:612359"} ! Cowden disease intersection_of: MONDO:0016063 ! Cowden disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10681 ! SDHB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10681 {source="mim2gene_medgen"} ! SDHB @@ -251082,9 +254143,11 @@ id: MONDO:0012880 name: hypogonadotropic hypogonadism 5 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the CHD7 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare +synonym: "CHD7 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] synonym: "HH5" RELATED [MONDO:Lexical, OMIM:612370] synonym: "hypogonadotropic hypogonadism 5 with or without anosmia" EXACT [MONDO:Lexical, OMIM:612370] synonym: "hypogonadotropic hypogonadism 5 with or without anosmia; HH5" RELATED [OMIM:612370] +synonym: "hypogonadotropic hypogonadism caused by mutation in CHD7" EXACT [MONDO:design_pattern] synonym: "KAL5" NARROW [GARD:0010773] synonym: "Kallmann syndrome 5" RELATED [GARD:0010773] xref: DOID:0090084 {source="MONDO:equivalentTo"} @@ -251094,7 +254157,7 @@ xref: MESH:C567220 {source="MONDO:equivalentTo"} xref: OMIM:612370 {source="DOID:0090084", source="MONDO:equivalentTo", source="GARD:0010773"} xref: UMLS:C2675302 {source="NCBI:mim2gene_medline"} xref: UMLS:C3552553 {source="OMIM:612370", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:0012880/inferred", source="MONDO:Redundant", source="MONDOLEX:0012880/inferred", source="OMIM:612370"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090084", source="MONDO:0012880/inferred", source="MONDO:Redundant", source="MONDOLEX:0012880/inferred", source="OMIM:612370"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="MESH:C567220", source="MONDOLEX:0012880", source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20626 ! CHD7 @@ -251130,7 +254193,7 @@ xref: MESH:C567531 {source="MONDO:equivalentTo"} xref: OMIM:612372 {source="MONDO:equivalentTo"} xref: UMLS:C2700440 {source="NCBI:mim2gene_medline", source="OMIM:612372"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0004985 {source="DC-OMIM:612372", source="MONDO:cjm"} ! bipolar disorder +is_a: MONDO:0004985 {source="DC-OMIM:612372", source="MESH:C567531", source="MONDO:cjm"} ! bipolar disorder [Term] id: MONDO:0012883 @@ -251255,6 +254318,8 @@ is_a: MONDO:0005265 {source="DC-OMIM:612381", source="DOID:0110884", source="MES id: MONDO:0012888 name: sarcoidosis, susceptibility to, 2 def: "Any sarcoidosis in which the cause of the disease is a mutation in the BTNL2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BTNL2 sarcoidosis" EXACT [MONDO:design_pattern] +synonym: "sarcoidosis caused by mutation in BTNL2" EXACT [MONDO:design_pattern] synonym: "sarcoidosis, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:612387] synonym: "sarcoidosis, susceptibility to, 2; SS2" RELATED [OMIM:612387] synonym: "sarcoidosis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612387] @@ -251285,16 +254350,18 @@ property_value: confidence "5.4787819889860705" xsd:double id: MONDO:0012890 name: pontocerebellar hypoplasia type 2B def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN2" EXACT [MONDO:design_pattern] synonym: "PCH2B" RELATED [MONDO:Lexical, OMIM:612389] synonym: "pontocerebellar hypoplasia, type 2B" RELATED [MONDO:Lexical, OMIM:612389] synonym: "pontocerebellar hypoplasia, type 2B; PCH2B" RELATED [OMIM:612389] +synonym: "TSEN2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern] xref: DOID:0060268 {source="MONDO:equivalentTo"} xref: MESH:C567325 {source="MONDO:ontobio", source="DOID:0060268", source="MONDO:equivalentTo"} xref: OMIM:612389 {source="DOID:0060268", source="MONDO:equivalentTo"} xref: Orphanet:2524 {source="OMIM:612389", source="MONDO:subClassOf", source="DOID:0060268"} xref: UMLS:C2676466 {source="OMIM:612389", source="NCBI:mim2gene_medline", source="DOID:0060268", source="MONDO:equivalentTo"} is_a: MONDO:0016759 {source="MONDOLEX:0012890", source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2 -is_a: MONDO:0020135 {source="MONDO:Redundant", source="OMIM:612389"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0060268", source="MONDO:Redundant", source="OMIM:612389"} ! non-syndromic pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! non-syndromic pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28422 ! TSEN2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28422 {source="mim2gene_medgen"} ! TSEN2 @@ -251304,16 +254371,18 @@ property_value: confidence "40.66666666666664" xsd:double id: MONDO:0012891 name: pontocerebellar hypoplasia type 2C def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN34 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN34" EXACT [MONDO:design_pattern] synonym: "PCH2C" RELATED [MONDO:Lexical, OMIM:612390] synonym: "pontocerebellar hypoplasia, type 2C" RELATED [MONDO:Lexical, OMIM:612390] synonym: "pontocerebellar hypoplasia, type 2C; PCH2C" RELATED [OMIM:612390] +synonym: "TSEN34 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern] xref: DOID:0060269 {source="MONDO:equivalentTo"} xref: MESH:C567324 {source="MONDO:ontobio", source="DOID:0060269", source="MONDO:equivalentTo"} xref: OMIM:612390 {source="DOID:0060269", source="MONDO:equivalentTo"} xref: Orphanet:2524 {source="OMIM:612390", source="MONDO:subClassOf", source="DOID:0060269"} xref: UMLS:C2676465 {source="NCBI:mim2gene_medline", source="OMIM:612390", source="DOID:0060269", source="MONDO:equivalentTo"} is_a: MONDO:0016759 {source="MONDOLEX:0012891", source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2 -is_a: MONDO:0020135 {source="MONDO:Redundant", source="OMIM:612390"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0060269", source="MONDO:Redundant", source="OMIM:612390"} ! non-syndromic pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! non-syndromic pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15506 ! TSEN34 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15506 {source="mim2gene_medgen"} ! TSEN34 @@ -251344,7 +254413,9 @@ property_value: confidence "3.533333333333334" xsd:double id: MONDO:0012893 name: osteoarthritis susceptibility 5 def: "Any osteoarthritis in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GDF5 osteoarthritis" EXACT [MONDO:design_pattern] synonym: "OS5" RELATED [MONDO:Lexical, OMIM:612400] +synonym: "osteoarthritis caused by mutation in GDF5" EXACT [MONDO:design_pattern] synonym: "osteoarthritis of hip" RELATED [OMIM:612400] synonym: "osteoarthritis susceptibility 5" EXACT [MONDO:Lexical, OMIM:612400] synonym: "osteoarthritis susceptibility 5; OS5" RELATED [OMIM:612400] @@ -251387,7 +254458,7 @@ xref: MESH:C567319 {source="MONDO:equivalentTo"} xref: OMIM:612406 {source="DOID:0090042", source="ORDO:370103/e", source="Orphanet:370103", source="MONDO:equivalentTo"} xref: Orphanet:370103 {source="DOID:0090042", source="OMIM:612406", source="MONDO:equivalentTo"} xref: UMLS:C2676281 {source="NCBI:mim2gene_medline", source="OMIM:612406", source="MONDO:equivalentTo"} -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:612406"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090042", source="MESH:C567319", source="MONDO:Redundant", source="OMIM:612406"} ! dystonic disorder is_a: MONDO:0015990 {source="Orphanet:370103"} ! focal, segmental or multifocal dystonia property_value: confidence "2.0" xsd:double @@ -251434,7 +254505,7 @@ xref: OMIM:612416 {source="ORDO:329/e", source="Orphanet:329", source="DOID:2229 xref: Orphanet:329 {source="OMIM:612416", source="MONDO:equivalentTo"} xref: SCTID:49762007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2229", source="MONDO:equivalentTo"} xref: UMLS:C0015523 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="OMIM:612416", source="Orphanet:329", source="NCIT:C84705", source="DOID:2229", source="MONDO:equivalentTo"} -is_a: MONDO:0000429 {source="DOID:2229", source="linkedlifedata"} ! autosomal genetic disease +is_a: MONDO:0000429 {source="DOID:2229", source="linkedlifedata", source="linkedlifedata/inferred"} ! autosomal genetic disease is_a: MONDO:0002243 {source="MESH:D005173"} ! hemorrhagic disease is_a: MONDO:0019039 {source="Orphanet:329"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect is_a: MONDO:0021181 {source="MESH:D005173", source="MONDO:Entailed", source="OWLReasoner:2017"} ! inherited blood coagulation disorder @@ -251475,7 +254546,9 @@ def: "Any familial isolated restrictive cardiomyopathy in which the cause of the synonym: "cardiomyopathy, familial restrictive, 3" EXACT [MONDO:Lexical, OMIM:612422] synonym: "cardiomyopathy, familial restrictive, 3; RCM3" RELATED [OMIM:612422] synonym: "cardiomyopathy, familial restrictive, type 3" EXACT [MONDORULE:1, OMIM:612422] +synonym: "familial isolated restrictive cardiomyopathy caused by mutation in TNNT2" EXACT [MONDO:design_pattern] synonym: "RCM3" RELATED [MONDO:Lexical, OMIM:612422] +synonym: "TNNT2 familial isolated restrictive cardiomyopathy" EXACT [MONDO:design_pattern] xref: MESH:C567316 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612422 {source="MONDO:equivalentTo"} xref: Orphanet:75249 {source="OMIM:612422", source="MONDO:subClassOf"} @@ -251549,6 +254622,8 @@ synonym: "epilepsy, progressive myoclonic, 1B" EXACT [MONDO:Lexical, OMIM:612437 synonym: "epilepsy, progressive myoclonic, 1B; EPM1B" RELATED [OMIM:612437] synonym: "epilepsy, progressive myoclonic, type 1B" EXACT [MONDORULE:4, OMIM:612437] synonym: "EPM1B" RELATED [MONDO:Lexical, OMIM:612437] +synonym: "PRICKLE1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern] +synonym: "progressive myoclonic epilepsy caused by mutation in PRICKLE1" EXACT [MONDO:design_pattern] xref: ICD9:345.10 {source="i2s", source="MONDO:relatedTo"} xref: MESH:C580388 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612437 {source="MONDO:equivalentTo"} @@ -251584,7 +254659,7 @@ xref: MESH:C567314 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612438 {source="ORDO:139441/e", source="Orphanet:139441", source="MONDO:equivalentTo", source="DOID:0060798"} xref: Orphanet:139441 {source="OMIM:612438", source="MONDO:equivalentTo", source="DOID:0060798"} xref: UMLS:C2676244 {source="NCBI:mim2gene_medline", source="OMIM:612438", source="MONDO:equivalentTo"} -is_a: MONDO:0019046 {source="DOID:0060798", source="OMIM:612438", source="Orphanet:139441"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0060798", source="DOID:0060798/inferred", source="OMIM:612438", source="Orphanet:139441"} ! leukodystrophy property_value: confidence "13.769230769230768" xsd:double [Term] @@ -251596,7 +254671,9 @@ synonym: "ciliary dyskinesia, primary, 9" RELATED [MONDO:Lexical, OMIM:612444] synonym: "ciliary dyskinesia, primary, 9, with or without situs inversus" RELATED [OMIM:612444] synonym: "ciliary dyskinesia, primary, 9; CILD9" RELATED [OMIM:612444] synonym: "ciliary dyskinesia, primary, type 9" EXACT [MONDORULE:1, OMIM:612444] +synonym: "DNAI2 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 9 with or without situs inversus" EXACT [DOID:0110622] +synonym: "primary ciliary dyskinesia caused by mutation in DNAI2" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 9" EXACT [DOID:0110622, MONDORULE:1] xref: DOID:0110622 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110622"} @@ -251627,9 +254704,11 @@ property_value: confidence "8.6" xsd:double id: MONDO:0012908 name: complement component 6 deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "C6 classic complement early component deficiency" EXACT [MONDO:design_pattern] synonym: "C6 deficiency" RELATED [OMIM:612446] synonym: "C6 deficiency, subtotal" RELATED [OMIM:612446] synonym: "C6D" RELATED [MONDO:Lexical, OMIM:612446] +synonym: "classic complement early component deficiency caused by mutation in C6" EXACT [MONDO:design_pattern] synonym: "complement component 6 deficiency" EXACT [MONDO:Lexical, OMIM:612446] synonym: "complement component 6 deficiency, subtotal" RELATED [OMIM:612446] synonym: "complement component 6 deficiency; C6D" RELATED [OMIM:612446] @@ -251841,7 +254920,9 @@ synonym: "ciliary dyskinesia, primary, 10" RELATED [MONDO:Lexical, OMIM:612518] synonym: "ciliary dyskinesia, primary, 10, with or without situs inversus" RELATED [OMIM:612518] synonym: "ciliary dyskinesia, primary, 10; CILD10" RELATED [OMIM:612518] synonym: "ciliary dyskinesia, primary, type 10" EXACT [MONDORULE:2, OMIM:612518] +synonym: "DNAAF2 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 10 with or without situs inversus" EXACT [DOID:0110612] +synonym: "primary ciliary dyskinesia caused by mutation in DNAAF2" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 10" EXACT [DOID:0110612, MONDORULE:2] xref: DOID:0110612 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110612"} @@ -251860,11 +254941,13 @@ def: "Any type 1 diabetes mellitus in which the cause of the disease is a mutati synonym: "diabetes mellitus, insulin-dependent, 20" RELATED [MONDO:Lexical, OMIM:612520] synonym: "diabetes mellitus, insulin-dependent, 20; IDDM20" RELATED [OMIM:612520] synonym: "diabetes mellitus, insulin-dependent, type 20" EXACT [MONDORULE:2, OMIM:612520] +synonym: "HNF1A type 1 diabetes mellitus" EXACT [MONDO:design_pattern] synonym: "IDDM20" EXACT [DOID:0110757, MONDO:Lexical, OMIM:612520] synonym: "insulin-dependent diabetes mellitus 20" EXACT [DOID:0110757] synonym: "LNK" EXACT [Orphanet:394580] synonym: "lymphocyte adaptor protein" EXACT [Orphanet:394580] synonym: "SH2B adaptor protein 3" RELATED [Orphanet:394580] +synonym: "type 1 diabetes mellitus caused by mutation in HNF1A" EXACT [MONDO:design_pattern] xref: DOID:0110757 {source="MONDO:equivalentTo"} xref: ICD10:E10 {source="DOID:0110757"} xref: MESH:C567286 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -251895,11 +254978,13 @@ is_a: MONDO:0005147 {source="DC-OMIM:612521", source="DOID:0110758", source="MES id: MONDO:0012921 name: type 1 diabetes mellitus 22 def: "Any type 1 diabetes mellitus in which the cause of the disease is a mutation in the CCR5 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CCR5 type 1 diabetes mellitus" EXACT [MONDO:design_pattern] synonym: "diabetes mellitus, insulin-dependent, 22" RELATED [MONDO:Lexical, OMIM:612522] synonym: "diabetes mellitus, insulin-dependent, 22; IDDM22" RELATED [OMIM:612522] synonym: "diabetes mellitus, insulin-dependent, type 22" EXACT [MONDORULE:2, OMIM:612522] synonym: "IDDM22" EXACT [DOID:0110759, MONDO:Lexical, OMIM:612522] synonym: "insulin-dependent diabetes mellitus 22" EXACT [DOID:0110759] +synonym: "type 1 diabetes mellitus caused by mutation in CCR5" EXACT [MONDO:design_pattern] xref: DOID:0110759 {source="MONDO:equivalentTo"} xref: ICD10:E10 {source="DOID:0110759"} xref: MESH:C567284 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -251919,7 +255004,7 @@ synonym: "pyloric stenosis, infantile hypertrophic, 5; IHPS5" RELATED [OMIM:6125 xref: MESH:C567283 {source="MONDO:equivalentTo"} xref: OMIM:612525 {source="MONDO:equivalentTo"} xref: UMLS:C2675862 {source="NCBI:mim2gene_medline", source="OMIM:612525", source="MONDO:equivalentTo"} -is_a: MONDO:0001560 {source="DC-OMIM:612525", source="MONDOLEX:0012922", source="OMIM:612525"} ! hypertrophic pyloric stenosis +is_a: MONDO:0001560 {source="DC-OMIM:612525", source="MESH:C567283", source="MONDOLEX:0012922", source="OMIM:612525"} ! hypertrophic pyloric stenosis is_a: MONDO:0003847 ! inherited genetic disease property_value: confidence "3.8773052888279222" xsd:double @@ -251958,7 +255043,9 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio synonym: "DBA4" RELATED [MONDO:Lexical, OMIM:612527] synonym: "Diamond-Blackfan anemia 4" EXACT [MONDO:Lexical, OMIM:612527] synonym: "DIAMOND-Blackfan ANEMIA 4; DBA4" RELATED [OMIM:612527] +synonym: "Diamond-Blackfan anemia caused by mutation in RPS17" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 4" EXACT [MONDORULE:1, OMIM:612527] +synonym: "RPS17 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: MESH:C567281 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612527 {source="MONDO:equivalentTo"} xref: UMLS:C2675860 {source="NCBI:mim2gene_medline", source="OMIM:612527", source="MONDO:equivalentTo"} @@ -251974,7 +255061,9 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio synonym: "DBA5" RELATED [MONDO:Lexical, OMIM:612528] synonym: "Diamond-Blackfan anemia 5" EXACT [MONDO:Lexical, OMIM:612528] synonym: "DIAMOND-Blackfan ANEMIA 5; DBA5" RELATED [OMIM:612528] +synonym: "Diamond-Blackfan anemia caused by mutation in RPL35A" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 5" EXACT [MONDORULE:1, OMIM:612528] +synonym: "RPL35A Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: MESH:C567280 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612528 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="MONDO:subClassOf", source="OMIM:612528"} @@ -251989,12 +255078,14 @@ id: MONDO:0012926 name: amelogenesis imperfecta hypomaturation type 2A2 def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the MMP20 gene." [MONDO:patterns/disease_series_by_gene] synonym: "AI2A2" EXACT [DOID:0110060, MONDO:Lexical, OMIM:612529] +synonym: "amelogenesis imperfecta caused by mutation in MMP20" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation type IIA2" EXACT [DOID:0110060] synonym: "amelogenesis imperfecta pigmented hypomaturation type 2" EXACT [DOID:0110060] synonym: "amelogenesis imperfecta type IIA2" EXACT [DOID:0110060] synonym: "amelogenesis imperfecta, hypomaturation type, IIA2" RELATED [MONDO:Lexical, OMIM:612529] synonym: "amelogenesis imperfecta, hypomaturation type, IIA2; AI2A2" RELATED [OMIM:612529] synonym: "amelogenesis imperfecta, pigmented hypomaturation type, 2" RELATED [OMIM:612529] +synonym: "MMP20 amelogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110060 {source="MONDO:equivalentTo"} xref: ICD10:K00.5 {source="DOID:0110060"} xref: MESH:C567279 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -252003,7 +255094,7 @@ xref: Orphanet:100033 {source="OMIM:612529", source="MONDO:subClassOf"} xref: UMLS:C2675858 {source="NCBI:mim2gene_medline", source="OMIM:612529", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0015048 {source="MONDOLEX:0012926", source="ORDO:100033/btnt"} ! hypomaturation amelogenesis imperfecta -is_a: MONDO:0019507 {source="MESH:C567279", source="MONDO:Redundant", source="OMIM:612529"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="DOID:0110060", source="MESH:C567279", source="MONDO:Redundant", source="OMIM:612529"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7167 ! MMP20 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7167 {source="mim2gene_medgen"} ! MMP20 @@ -252045,9 +255136,11 @@ id: MONDO:0012928 name: hereditary spastic paraplegia 42 def: "Autosomal dominant spastic paraplegia type 42 is a pure form of hereditary spastic paraplegia characterized by slowly progressive spastic paraplegia of lower extremities with an age of onset ranging from childhood to adulthood and patients presenting with spastic gait, increased tendon reflexes in lower limbs, extensor plantar response, weakness and atrophy of lower limb muscles and, in rare cases, pes cavus. No abnormalities are noted on magnetic resonance imaging." [Orphanet:171863] subset: ordo_disease {source="Orphanet:171863"} +synonym: "autosomal dominant pure spastic paraplegia caused by mutation in SLC33A1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant spastic paraplegia 42" EXACT [DOID:0110794] synonym: "autosomal dominant spastic paraplegia type 42" EXACT [DOID:0110794] synonym: "hereditary spastic paraplegia type 42" EXACT [DOID:0110794, MONDORULE:2] +synonym: "SLC33A1 autosomal dominant pure spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 42, autosomal dominant" RELATED [MONDO:Lexical, OMIM:612539] synonym: "spastic paraplegia 42, autosomal dominant; SPG42" RELATED [OMIM:612539] synonym: "SPG42" EXACT [DOID:0110794, MONDO:Lexical, OMIM:612539, Orphanet:171863] @@ -252058,7 +255151,7 @@ xref: OMIM:612539 {source="Orphanet:171863", source="DOID:0110794", source="ORDO xref: Orphanet:171863 {source="DOID:0110794", source="OMIM:612539", source="MONDO:equivalentTo"} xref: UMLS:C2675528 {source="Orphanet:171863", source="NCBI:mim2gene_medline", source="ORDO:171863/e", source="MEDGEN:kboom-pr98-c99", source="OMIM:612539", source="MONDO:equivalentTo"} is_a: MONDO:0015088 {source="Orphanet:171863"} ! autosomal dominant pure spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:612539", source="Orphanet:171863/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110794", source="MESH:C567262", source="MONDO:Redundant", source="OMIM:612539", source="Orphanet:171863/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015088 ! autosomal dominant pure spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/95 ! SLC33A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/95 {source="mim2gene_medgen"} ! SLC33A1 @@ -252107,9 +255200,11 @@ property_value: confidence "3.666666666666667" xsd:double id: MONDO:0012931 name: focal segmental glomerulosclerosis 4, susceptibility to def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the APOL1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "APOL1 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern] synonym: "end-stage renal disease, nondiabetic, susceptibility to" RELATED [OMIM:612551] synonym: "focal segmental glomerulosclerosis 4, susceptibility to" EXACT [MONDO:Lexical, OMIM:612551] synonym: "focal segmental glomerulosclerosis 4, susceptibility to; FSGS4" RELATED [OMIM:612551] +synonym: "focal segmental glomerulosclerosis caused by mutation in APOL1" EXACT [MONDO:design_pattern] synonym: "FSGS4" RELATED [MONDO:Lexical, OMIM:612551] synonym: "susceptibility to focal segmental glomerulosclerosis 4" RELATED [OMIM:612551] xref: OMIM:612551 {source="MONDO:equivalentTo"} @@ -252130,18 +255225,20 @@ synonym: "MYP16" EXACT [MONDO:Lexical, OMIM:612554] xref: MESH:C567259 {source="MONDO:equivalentTo"} xref: OMIM:612554 {source="MONDO:equivalentTo"} xref: UMLS:C2675523 {source="OMIM:612554", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0001384 {source="DC-OMIM:612554", source="OMIM:612554"} ! myopia (disease) +is_a: MONDO:0001384 {source="DC-OMIM:612554", source="MESH:C567259", source="OMIM:612554"} ! myopia (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] id: MONDO:0012933 name: breast-ovarian cancer, familial, susceptibility to, 2 def: "Any hereditary breast ovarian cancer syndrome in which the cause of the disease is a mutation in the BRCA2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BRCA2 hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern] synonym: "breast cancer, familial, susceptibility to, 2" RELATED [OMIM:612555] synonym: "breast-ovarian cancer, familial, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:612555] synonym: "breast-ovarian cancer, familial, susceptibility to, 2; BROVCA2" RELATED [OMIM:612555] synonym: "breast-ovarian cancer, familial, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612555] synonym: "BROVCA2" RELATED [MONDO:Lexical, OMIM:612555] +synonym: "hereditary breast ovarian cancer syndrome caused by mutation in BRCA2" EXACT [MONDO:design_pattern] synonym: "ovarian cancer, familial, susceptibility to, 2" RELATED [OMIM:612555] synonym: "susceptibility to familial breast-ovarian cancer 2" RELATED [OMIM:612555] xref: OMIM:612555 {source="MONDO:equivalentTo"} @@ -252200,7 +255297,9 @@ synonym: "Aase-Smith syndrome 2" RELATED [OMIM:612561] synonym: "DBA6" RELATED [MONDO:Lexical, OMIM:612561] synonym: "Diamond-Blackfan anemia 6" EXACT [MONDO:Lexical, OMIM:612561] synonym: "DIAMOND-Blackfan ANEMIA 6; DBA6" RELATED [OMIM:612561] +synonym: "Diamond-Blackfan anemia caused by mutation in RPL5" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 6" EXACT [MONDORULE:1, OMIM:612561] +synonym: "RPL5 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: OMIM:612561 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="MONDO:subClassOf", source="OMIM:612561"} xref: UMLS:C0265265 {source="NCBI:mim2gene_medline", source="MONDO:subClassOf"} @@ -252217,7 +255316,9 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio synonym: "DBA7" RELATED [MONDO:Lexical, OMIM:612562] synonym: "Diamond-Blackfan anemia 7" EXACT [MONDO:Lexical, OMIM:612562] synonym: "DIAMOND-Blackfan ANEMIA 7; DBA7" RELATED [OMIM:612562] +synonym: "Diamond-Blackfan anemia caused by mutation in RPL11" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 7" EXACT [MONDORULE:1, OMIM:612562] +synonym: "RPL11 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: MESH:C567254 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612562 {source="MONDO:equivalentTo"} xref: UMLS:C2675512 {source="OMIM:612562", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -252233,7 +255334,9 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio synonym: "DBA8" RELATED [MONDO:Lexical, OMIM:612563] synonym: "Diamond-Blackfan anemia 8" EXACT [MONDO:Lexical, OMIM:612563] synonym: "DIAMOND-Blackfan ANEMIA 8; DBA8" RELATED [OMIM:612563] +synonym: "Diamond-Blackfan anemia caused by mutation in RPS7" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 8" EXACT [MONDORULE:1, OMIM:612563] +synonym: "RPS7 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: MESH:C567253 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612563 {source="MONDO:equivalentTo"} xref: UMLS:C2675511 {source="OMIM:612563", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -252264,8 +255367,10 @@ name: inflammatory bowel disease 25 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RB gene." [MONDO:patterns/disease_series_by_gene] synonym: "early onset autosomal recessive inflammatory bowel disease 25" EXACT [DOID:0110909] synonym: "IBD25" EXACT [DOID:0110909, MONDO:Lexical, OMIM:612567] +synonym: "IL10RB inflammatory bowel disease" EXACT [MONDO:design_pattern] synonym: "inflammatory bowel disease 25, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612567] synonym: "inflammatory bowel disease 25, autosomal recessive; IBD25" RELATED [OMIM:612567] +synonym: "inflammatory bowel disease caused by mutation in IL10RB" EXACT [MONDO:design_pattern] synonym: "inflammatory bowel disease type 25" EXACT [DOID:0110909, MONDORULE:2] synonym: "inflammatory bowel disease, early-onset, autosomal recessive" RELATED [OMIM:612567] xref: DOID:0110909 {source="MONDO:equivalentTo"} @@ -252273,7 +255378,7 @@ xref: MESH:C567251 {source="MONDO:equivalentTo"} xref: OMIM:612567 {source="DOID:0110909", source="MONDO:equivalentTo"} xref: Orphanet:238569 {source="OMIM:612567", source="MONDO:subClassOf"} xref: UMLS:C2675508 {source="NCBI:mim2gene_medline", source="OMIM:612567", source="MONDO:equivalentTo"} -is_a: MONDO:0005265 {source="MONDO:Redundant", source="OMIM:612567"} ! inflammatory bowel disease +is_a: MONDO:0005265 {source="DOID:0110909", source="MESH:C567251", source="MONDO:Redundant", source="OMIM:612567"} ! inflammatory bowel disease is_a: MONDO:0016542 {source="ORDO:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome intersection_of: MONDO:0005265 ! inflammatory bowel disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5965 ! IL10RB @@ -252295,8 +255400,10 @@ is_a: MONDO:0008903 {source="DC-OMIM:612571", source="MONDOLEX:0012942"} ! lung id: MONDO:0012943 name: retinitis pigmentosa 46 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IDH3B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "IDH3B retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 46" EXACT [MONDO:Lexical, OMIM:612572] synonym: "retinitis pigmentosa 46; RP46" RELATED [OMIM:612572] +synonym: "retinitis pigmentosa caused by mutation in IDH3B" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 46" EXACT [DOID:0110409, MONDORULE:2, OMIM:612572] synonym: "retinitis pigmentosa, autosomal recessive, Idh3B-Related" RELATED [OMIM:612572] synonym: "RP46" EXACT [DOID:0110409, MONDO:Lexical, OMIM:612572] @@ -252332,14 +255439,16 @@ synonym: "ALS11" EXACT [DOID:0060202, OMIM:612577] synonym: "ALS11" RELATED [MONDO:Lexical, OMIM:612577] synonym: "amyotrophic lateral sclerosis 11" EXACT [DOID:0060202, MONDO:Lexical, OMIM:612577] synonym: "amyotrophic lateral sclerosis 11; ALS11" RELATED [OMIM:612577] +synonym: "amyotrophic lateral sclerosis caused by mutation in FIG4" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 11" EXACT [MONDORULE:2, OMIM:612577] +synonym: "FIG4 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0060202 {source="MONDO:equivalentTo"} xref: GARD:0010496 {source="MONDO:equivalentTo"} xref: MESH:C567244 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612577 {source="DOID:0060202", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:612577", source="MONDO:subClassOf"} xref: UMLS:C2675491 {source="NCBI:mim2gene_medline", source="OMIM:612577", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004976 {source="MESH:C567244", source="MONDO:Redundant", source="OMIM:612577"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0060202", source="MESH:C567244", source="MONDO:Redundant", source="OMIM:612577"} ! amyotrophic lateral sclerosis is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16873 ! FIG4 @@ -252353,6 +255462,8 @@ name: intellectual disability, autosomal dominant 3 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CDH15 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 3" EXACT [DOID:0070033] synonym: "autosomal dominant non-syndromic intellectual disability 3" RELATED [DOID:0070033] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in CDH15" EXACT [MONDO:design_pattern] +synonym: "CDH15 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 3" RELATED [MONDO:Lexical, OMIM:612580] synonym: "mental retardation, autosomal dominant 3; MRD3" RELATED [OMIM:612580] synonym: "mental retardation, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:612580] @@ -252375,6 +255486,8 @@ name: intellectual disability, autosomal dominant 4 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the KIRREL3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 4" EXACT [DOID:0070034] synonym: "autosomal dominant non-syndromic intellectual disability 4" RELATED [DOID:0070034] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in KIRREL3" EXACT [MONDO:design_pattern] +synonym: "KIRREL3 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 4" RELATED [MONDO:Lexical, OMIM:612581] synonym: "mental retardation, autosomal dominant 4; MRD4" RELATED [OMIM:612581] synonym: "mental retardation, autosomal dominant type 4" EXACT [MONDORULE:1, OMIM:612581] @@ -252471,11 +255584,13 @@ is_a: MONDO:0005575 {source="DC-OMIM:612590", source="MONDOLEX:0012952"} ! color id: MONDO:0012953 name: colorectal cancer, susceptibility to, 10 def: "Any colorectal cancer in which the cause of the disease is a mutation in the POLD1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "colorectal cancer caused by mutation in POLD1" EXACT [MONDO:design_pattern] synonym: "colorectal cancer, susceptibility to, 10" EXACT [MONDO:Lexical, OMIM:612591] synonym: "colorectal cancer, susceptibility to, 10; CRCS10" RELATED [OMIM:612591] synonym: "colorectal cancer, susceptibility to, on chromosome 19Q" RELATED [OMIM:612591] synonym: "colorectal cancer, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:612591] synonym: "CRCS10" RELATED [MONDO:Lexical, OMIM:612591] +synonym: "POLD1 colorectal cancer" EXACT [MONDO:design_pattern] synonym: "susceptibility to colorectal cancer 10" RELATED [OMIM:612591] xref: OMIM:612591 {source="MONDO:equivalentTo"} xref: UMLS:C2675481 {source="NCBI:mim2gene_medline", source="OMIM:612591"} @@ -252562,10 +255677,12 @@ name: intellectual disability, autosomal dominant 5 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the SYNGAP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 5" EXACT [DOID:0070035] synonym: "autosomal dominant non-syndromic intellectual disability 5" RELATED [DOID:0070035] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in SYNGAP1" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 5" RELATED [MONDO:Lexical, OMIM:612621] synonym: "mental retardation, autosomal dominant 5; MRD5" RELATED [OMIM:612621] synonym: "mental retardation, autosomal dominant type 5" EXACT [MONDORULE:1, OMIM:612621] synonym: "MRD5" EXACT [DOID:0070035, MONDO:Lexical, OMIM:612621] +synonym: "SYNGAP1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "Syngap1 Gene mutation linked to intellectual disability, schizophrenia and autism" RELATED [GARD:0012558] synonym: "SYNGAP1 syndrome" RELATED [GARD:0012558] synonym: "SYNGAP1-related non-syndromic intellectual disability" RELATED [GARD:0012558] @@ -252602,6 +255719,8 @@ id: MONDO:0012962 name: microvascular complications of diabetes, susceptibility to, 2 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the EPO gene." [MONDO:patterns/disease_series_by_gene] synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [OMIM:612623] +synonym: "EPO microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern] +synonym: "microvascular complications of diabetes, susceptibility caused by mutation in EPO" EXACT [MONDO:design_pattern] synonym: "microvascular complications of diabetes, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:612623] synonym: "microvascular COMPLICATIONS of diabetes, susceptibility to, 2; MVCD2" RELATED [OMIM:612623] synonym: "microvascular Complications of diabetes, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:612623] @@ -252620,7 +255739,9 @@ property_value: confidence "4.999999999999999" xsd:double id: MONDO:0012963 name: microvascular complications of diabetes, susceptibility to, 3 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the ACE gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ACE microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern] synonym: "end-stage renal disease, diabetic, susceptibility to" RELATED [OMIM:612624] +synonym: "microvascular complications of diabetes, susceptibility caused by mutation in ACE" EXACT [MONDO:design_pattern] synonym: "microvascular complications of diabetes, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:612624] synonym: "microvascular COMPLICATIONS of diabetes, susceptibility to, 3; MVCD3" RELATED [OMIM:612624] synonym: "microvascular Complications of diabetes, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:612624] @@ -252675,6 +255796,8 @@ is_a: MONDO:0017615 {source="DC-OMIM:612627", source="OMIM:612627"} ! benign fam id: MONDO:0012966 name: microvascular complications of diabetes, susceptibility to, 4 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the IL1RN gene." [MONDO:patterns/disease_series_by_gene] +synonym: "IL1RN microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern] +synonym: "microvascular complications of diabetes, susceptibility caused by mutation in IL1RN" EXACT [MONDO:design_pattern] synonym: "microvascular complications of diabetes, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:612628] synonym: "microvascular COMPLICATIONS of diabetes, susceptibility to, 4; MVCD4" RELATED [OMIM:612628] synonym: "microvascular Complications of diabetes, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:612628] @@ -252720,17 +255843,19 @@ xref: Orphanet:231169 {source="OMIM:612632", source="MONDO:subClassOf"} xref: Orphanet:886 {source="OMIM:612632", source="MONDO:subClassOf"} xref: UMLS:C2675458 {source="NCBI:mim2gene_medline", source="OMIM:612632", source="MONDO:equivalentTo"} is_a: MONDO:0010168 {source="DOID:0110835", source="MONDOLEX:0012968"} ! Usher syndrome type 1 -is_a: MONDO:0019501 {source="MESH:C567227", source="MONDO:Redundant", source="OMIM:612632"} ! Usher syndrome +is_a: MONDO:0019501 {source="DOID:0110835/inferred", source="MESH:C567227", source="MONDO:Redundant", source="OMIM:612632"} ! Usher syndrome property_value: confidence "2.4444444444444438" xsd:double [Term] id: MONDO:0012969 name: microvascular complications of diabetes, susceptibility to, 5 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the PON1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "microvascular complications of diabetes, susceptibility caused by mutation in PON1" EXACT [MONDO:design_pattern] synonym: "microvascular complications of diabetes, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:612633] synonym: "microvascular COMPLICATIONS of diabetes, susceptibility to, 5; MVCD5" RELATED [OMIM:612633] synonym: "microvascular Complications of diabetes, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:612633] synonym: "MVCD5" RELATED [MONDO:Lexical, OMIM:612633] +synonym: "PON1 microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern] synonym: "retinopathy, diabetic, susceptibility to" RELATED [OMIM:612633] xref: OMIM:612633 {source="MONDO:equivalentTo"} xref: UMLS:C2674665 {source="NCBI:mim2gene_medline", source="OMIM:612633"} @@ -252745,11 +255870,13 @@ property_value: confidence "4.999999999999999" xsd:double id: MONDO:0012970 name: microvascular complications of diabetes, susceptibility to, 6 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the SOD2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "microvascular complications of diabetes, susceptibility caused by mutation in SOD2" EXACT [MONDO:design_pattern] synonym: "microvascular complications of diabetes, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:612634] synonym: "microvascular COMPLICATIONS of diabetes, susceptibility to, 6; MVCD6" RELATED [OMIM:612634] synonym: "microvascular Complications of diabetes, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:612634] synonym: "MVCD6" RELATED [MONDO:Lexical, OMIM:612634] synonym: "Nephropathy, diabetic, susceptibility to" RELATED [OMIM:612634] +synonym: "SOD2 microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern] xref: OMIM:612634 {source="MONDO:equivalentTo"} xref: UMLS:C2675128 {source="NCBI:mim2gene_medline", source="OMIM:612634"} is_a: MONDO:0000065 {source="DC-OMIM:612634", source="OMIM:612634"} ! microvascular complications of diabetes, susceptibility @@ -252763,6 +255890,8 @@ property_value: confidence "0.3333333333333335" xsd:double id: MONDO:0012971 name: microvascular complications of diabetes, susceptibility to, 7 def: "Any microvascular complications of diabetes, susceptibility in which the cause of the disease is a mutation in the HFE gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HFE microvascular complications of diabetes, susceptibility" EXACT [MONDO:design_pattern] +synonym: "microvascular complications of diabetes, susceptibility caused by mutation in HFE" EXACT [MONDO:design_pattern] synonym: "microvascular complications of diabetes, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM:612635] synonym: "microvascular COMPLICATIONS of diabetes, susceptibility to, 7; MVCD7" RELATED [OMIM:612635] synonym: "microvascular Complications of diabetes, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:612635] @@ -252829,11 +255958,13 @@ id: MONDO:0012975 name: autosomal dominant nonsyndromic deafness 3B def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 3B" EXACT [DOID:0110565] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB6" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 3B" EXACT [DOID:0110565, MONDORULE:4] synonym: "deafness, autosomal dominant 3B" RELATED [MONDO:Lexical, OMIM:612643] synonym: "deafness, autosomal dominant 3B; DFNA3B" RELATED [OMIM:612643] synonym: "deafness, autosomal dominant type 3B" EXACT [MONDORULE:4, OMIM:612643] synonym: "DFNA3B" EXACT [DOID:0110565, MONDO:Lexical, OMIM:612643] +synonym: "GJB6 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110565 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110565"} xref: MESH:C567215 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -252849,11 +255980,13 @@ id: MONDO:0012976 name: autosomal dominant nonsyndromic deafness 2B def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the GJB3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 2B" EXACT [DOID:0110559] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in GJB3" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 2B" EXACT [DOID:0110559, MONDORULE:4] synonym: "deafness, autosomal dominant 2B" RELATED [MONDO:Lexical, OMIM:612644] synonym: "deafness, autosomal dominant 2B; DFNA2B" RELATED [OMIM:612644] synonym: "deafness, autosomal dominant type 2B" EXACT [MONDORULE:4, OMIM:612644] synonym: "DFNA2B" EXACT [DOID:0110559, MONDO:Lexical, OMIM:612644] +synonym: "GJB3 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110559 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110559"} xref: MESH:C567214 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -252870,11 +256003,13 @@ name: autosomal recessive nonsyndromic deafness 1B def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GJB6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 1B" EXACT [DOID:0110476] synonym: "Autosomal recessive deafness type 1B" RELATED [GTR:AN1075764] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GJB6" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 1B" EXACT [DOID:0110476, MONDORULE:4] synonym: "deafness, autosomal recessive 1B" RELATED [MONDO:Lexical, OMIM:612645] synonym: "deafness, autosomal recessive 1B; DFNB1B" RELATED [OMIM:612645] synonym: "deafness, autosomal recessive type 1B" EXACT [MONDORULE:4, OMIM:612645] synonym: "DFNB1B" EXACT [DOID:0110476, MONDO:Lexical, OMIM:612645] +synonym: "GJB6 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110476 {source="MONDO:equivalentTo"} xref: GTR:AN1075764 {source="UMLS:CN674504"} xref: ICD10:H90.3 {source="DOID:0110476"} @@ -252897,7 +256032,9 @@ synonym: "ciliary dyskinesia, primary, 11, without situs inversus" RELATED [OMIM synonym: "ciliary dyskinesia, primary, 11; CILD11" RELATED [OMIM:612649] synonym: "ciliary dyskinesia, primary, type 11" EXACT [MONDORULE:2, OMIM:612649] synonym: "primary ciliary dyskinesia 11 without situs inversus" EXACT [DOID:0110602] +synonym: "primary ciliary dyskinesia caused by mutation in RSPH4A" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 11" EXACT [DOID:0110602, MONDORULE:2] +synonym: "RSPH4A primary ciliary dyskinesia" EXACT [MONDO:design_pattern] xref: DOID:0110602 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110602"} xref: MESH:C567212 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -252918,7 +256055,9 @@ synonym: "ciliary dyskinesia, primary, 12, without situs inversus" RELATED [OMIM synonym: "ciliary dyskinesia, primary, 12; CILD12" RELATED [OMIM:612650] synonym: "ciliary dyskinesia, primary, type 12" EXACT [MONDORULE:2, OMIM:612650] synonym: "primary ciliary dyskinesia 12 without situs inversus" EXACT [DOID:0110601] +synonym: "primary ciliary dyskinesia caused by mutation in RSPH9" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 12" EXACT [DOID:0110601, MONDORULE:2] +synonym: "RSPH9 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] xref: DOID:0110601 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110601"} xref: MESH:C567211 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -252957,7 +256096,9 @@ id: MONDO:0012981 name: hereditary spherocytosis type 4 def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the SLC4A1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "hereditary spherocytosis 4" EXACT [DOID:0110919] +synonym: "hereditary spherocytosis caused by mutation in SLC4A1" EXACT [MONDO:design_pattern] synonym: "HS4" EXACT [DOID:0110919] +synonym: "SLC4A1 hereditary spherocytosis" EXACT [MONDO:design_pattern] synonym: "SPH4" EXACT [DOID:0110919, MONDO:Lexical, OMIM:612653] synonym: "spherocytosis, hereditary, 4" RELATED [OMIM:612653] synonym: "spherocytosis, type 4" RELATED [MONDO:Lexical, OMIM:612653] @@ -252981,6 +256122,8 @@ subset: ordo_disease {source="Orphanet:209967"} synonym: "EA6" RELATED [MONDO:Lexical, OMIM:612656] synonym: "episodic ataxia, type 6" RELATED [MONDO:Lexical, OMIM:612656] synonym: "episodic ataxia, type 6; EA6" RELATED [OMIM:612656] +synonym: "hereditary episodic ataxia caused by mutation in SLC1A3" EXACT [MONDO:design_pattern] +synonym: "SLC1A3 hereditary episodic ataxia" EXACT [MONDO:design_pattern] xref: DOID:0050994 {source="MONDO:equivalentTo"} xref: ICD10:G11.8 {source="Orphanet:209967", source="ORDO:209967/ntbt", source="ORDO:209967/attributed"} xref: MESH:C567207 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -252988,7 +256131,7 @@ xref: OMIM:612656 {source="Orphanet:209967", source="DOID:0050994", source="ORDO xref: Orphanet:209967 {source="OMIM:612656", source="MONDO:equivalentTo"} xref: SCTID:718753002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C2675211 {source="Orphanet:209967", source="NCBI:mim2gene_medline", source="OMIM:612656", source="MONDO:equivalentTo"} -is_a: MONDO:0016227 {source="OMIM:612656", source="Orphanet:209967", source="linkedlifedata"} ! hereditary episodic ataxia +is_a: MONDO:0016227 {source="DOID:0050994", source="OMIM:612656", source="Orphanet:209967", source="linkedlifedata"} ! hereditary episodic ataxia intersection_of: MONDO:0016227 ! hereditary episodic ataxia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10941 ! SLC1A3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10941 {source="mim2gene_medgen"} ! SLC1A3 @@ -253000,9 +256143,11 @@ name: cone-rod dystrophy 12 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the PROM1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 12" EXACT [MONDO:Lexical, OMIM:612657] synonym: "cone-ROD dystrophy 12; CORD12" RELATED [OMIM:612657] +synonym: "cone-rod dystrophy caused by mutation in PROM1" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 12" EXACT [MONDORULE:2, OMIM:612657] synonym: "cone-rod dystrophy type 12" EXACT [DOID:0111019, MONDORULE:2] synonym: "CORD12" EXACT [DOID:0111019, MONDO:Lexical, OMIM:612657] +synonym: "PROM1 cone-rod dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0111019 {source="MONDO:equivalentTo"} xref: MESH:C567206 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612657 {source="DOID:0111019", source="MONDO:equivalentTo"} @@ -253041,7 +256186,9 @@ property_value: confidence "6.499999999999996" xsd:double id: MONDO:0012985 name: hereditary spherocytosis type 5 def: "Any hereditary spherocytosis in which the cause of the disease is a mutation in the EPB42 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "EPB42 hereditary spherocytosis" EXACT [MONDO:design_pattern] synonym: "hereditary spherocytosis 5" EXACT [DOID:0110920] +synonym: "hereditary spherocytosis caused by mutation in EPB42" EXACT [MONDO:design_pattern] synonym: "HS5" EXACT [DOID:0110920] synonym: "SPH5" EXACT [DOID:0110920, MONDO:Lexical, OMIM:612690] synonym: "spherocytosis, hereditary, 5" RELATED [OMIM:612690] @@ -253086,6 +256233,8 @@ synonym: "agammaglobulinemia 6, autosomal recessive" EXACT [MONDO:Lexical, OMIM: synonym: "agammaglobulinemia 6, autosomal recessive; AGM6" RELATED [OMIM:612692] synonym: "agammaglobulinemia, autosomal recessive, due to Cd79B defect" RELATED [OMIM:612692] synonym: "AGM6" RELATED [MONDO:Lexical, OMIM:612692] +synonym: "autosomal agammaglobulinemia caused by mutation in CD79B" EXACT [MONDO:design_pattern] +synonym: "CD79B autosomal agammaglobulinemia" EXACT [MONDO:design_pattern] xref: OMIM:612692 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="MONDO:subClassOf", source="OMIM:612692"} xref: Orphanet:33110 {source="MONDO:subClassOf", source="OMIM:612692"} @@ -253102,9 +256251,11 @@ id: MONDO:0012988 name: hypogonadotropic hypogonadism 6 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF8 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare +synonym: "FGF8 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] synonym: "HH6" RELATED [MONDO:Lexical, OMIM:612702] synonym: "hypogonadotropic hypogonadism 6 with or without anosmia" EXACT [MONDO:Lexical, OMIM:612702] synonym: "hypogonadotropic hypogonadism 6 with or without anosmia; HH6" RELATED [OMIM:612702] +synonym: "hypogonadotropic hypogonadism caused by mutation in FGF8" EXACT [MONDO:design_pattern] synonym: "KAL6" NARROW [GARD:0010774] synonym: "Kallmann syndrome 6" RELATED [GARD:0010774] xref: DOID:0090086 {source="MONDO:equivalentTo"} @@ -253114,7 +256265,7 @@ xref: MESH:C567199 {source="MONDO:equivalentTo"} xref: OMIM:612702 {source="DOID:0090086", source="GARD:0010774", source="MONDO:equivalentTo"} xref: UMLS:C2675188 {source="NCBI:mim2gene_medline"} xref: UMLS:C3552574 {source="OMIM:612702", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:0012988/inferred", source="MONDO:Redundant", source="MONDOLEX:0012988/inferred", source="OMIM:612702"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090086", source="MONDO:0012988/inferred", source="MONDO:Redundant", source="MONDOLEX:0012988/inferred", source="OMIM:612702"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="MESH:C567199", source="MONDOLEX:0012988", source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3686 ! FGF8 @@ -253125,9 +256276,11 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10774/kallman id: MONDO:0012989 name: microcephaly 7, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the STIL gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive primary microcephaly caused by mutation in STIL" EXACT [MONDO:design_pattern] synonym: "MCPH7" RELATED [MONDO:Lexical, OMIM:612703] synonym: "microcephaly 7, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:612703] synonym: "microcephaly 7, primary, autosomal recessive; MCPH7" RELATED [OMIM:612703] +synonym: "STIL autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern] xref: MESH:C567198 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612703 {source="MONDO:equivalentTo"} xref: Orphanet:2512 {source="MONDO:subClassOf", source="OMIM:612703"} @@ -253146,7 +256299,9 @@ subset: gard_rare {source="GARD:0010882"} synonym: "LCA13" EXACT [DOID:0110330, MONDO:Lexical, OMIM:612712] synonym: "Leber congenital amaurosis 13" EXACT [MONDO:Lexical, OMIM:612712] synonym: "Leber congenital amaurosis 13; LCA13" RELATED [OMIM:612712] +synonym: "Leber congenital amaurosis caused by mutation in RDH12" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 13" EXACT [DOID:0110330, MONDORULE:2, OMIM:612712] +synonym: "RDH12 Leber congenital amaurosis" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 53" RELATED [OMIM:612712] xref: DOID:0110330 {source="MONDO:equivalentTo"} xref: GARD:0010882 {source="MONDO:equivalentTo"} @@ -253191,13 +256346,13 @@ xref: Orphanet:199337 {source="OMIM:612714", source="MONDO:equivalentTo"} xref: SCTID:722207000 {source="MONDO:equivalentTo"} xref: UMLS:C2675184 {source="NCBI:mim2gene_medline", source="OMIM:612714", source="Orphanet:199337", source="MONDO:equivalentTo"} xref: UMLS:C4302747 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0001684 {source="linkedlife"} ! exocrine pancreatic insufficiency -is_a: MONDO:0009068 {source="linkedlife"} ! cytochrome-c oxidase deficiency disease +is_a: MONDO:0001684 {source="MESH:C567195", source="linkedlifedata"} ! exocrine pancreatic insufficiency +is_a: MONDO:0009068 {source="linkedlifedata"} ! cytochrome-c oxidase deficiency disease is_a: MONDO:0015112 {source="Orphanet:199337"} ! rare pancreatic disease is_a: MONDO:0015618 {source="Orphanet:199337"} ! genetic pancreatic disease is_a: MONDO:0016578 {source="Orphanet:199337"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is_a: MONDO:0017397 {source="Orphanet:199337"} ! constitutional dyserythropoietic anemia -is_a: MONDO:0019403 {source="linkedlife"} ! congenital dyserythropoietic anemia +is_a: MONDO:0019403 {source="MESH:C567195", source="linkedlifedata"} ! congenital dyserythropoietic anemia is_a: MONDO:0019709 {source="Orphanet:199337"} ! cleidocranial dysplasia and isolated cranial ossification defect relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16232 {source="mim2gene_medgen"} ! COX4I2 property_value: confidence "3.533333333333334" xsd:double @@ -253257,7 +256412,7 @@ synonym: "MYP15" EXACT [MONDO:Lexical, OMIM:612717] xref: MESH:C567193 {source="MONDO:equivalentTo"} xref: OMIM:612717 {source="MONDO:equivalentTo"} xref: UMLS:C2675180 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:612717"} -is_a: MONDO:0001384 {source="DC-OMIM:612717", source="OMIM:612717"} ! myopia (disease) +is_a: MONDO:0001384 {source="DC-OMIM:612717", source="MESH:C567193", source="OMIM:612717"} ! myopia (disease) is_a: MONDO:0003847 ! inherited genetic disease [Term] @@ -253273,7 +256428,9 @@ synonym: "cerebral creatine deficiency syndrome 3" EXACT [DOID:0050712, MONDO:Le synonym: "cerebral creatine deficiency syndrome 3; CCDS3" EXACT [OMIM:612718] synonym: "cerebral creatine deficiency syndrome type 3" EXACT [MONDORULE:1, OMIM:612718] synonym: "creatine deficiency syndrome due to AGAT deficiency" EXACT [OMIM:612718] +synonym: "disorder of glycine amidinotransferase activity" EXACT [MONDO:design_pattern] synonym: "GATM deficiency" EXACT [OMIM:612718] +synonym: "glycine amidinotransferase activity disease" EXACT [MONDO:design_pattern] synonym: "L-arginine:glycine amidinotransferase deficiency" EXACT [Orphanet:35704] xref: DOID:0050712 {source="MONDO:equivalentTo"} xref: GARD:0010323 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -253327,9 +256484,11 @@ synonym: "cerebral creatine deficiency syndrome 2" EXACT [DOID:0050799, MONDO:Le synonym: "cerebral creatine deficiency syndrome 2; CCDS2" RELATED [OMIM:612736] synonym: "cerebral creatine deficiency syndrome type 2" EXACT [MONDORULE:1, OMIM:612736] synonym: "creatine deficiency syndrome due to GAMT deficiency" RELATED [OMIM:612736] +synonym: "disorder of guanidinoacetate N-methyltransferase activity" EXACT [MONDO:design_pattern] synonym: "GAMT deficiency" EXACT [DOID:0050799, Orphanet:382] synonym: "GAMT deficiency" RELATED [OMIM:612736] synonym: "guanidinoacetate methyltransferase deficiency" EXACT [OMIM:612736] +synonym: "guanidinoacetate N-methyltransferase activity disease" EXACT [MONDO:design_pattern] xref: DOID:0050799 {source="MONDO:equivalentTo"} xref: GARD:0002578 {source="MONDO:equivalentTo"} xref: ICD10:E72.8 {source="ORDO:382/ntbt", source="Orphanet:382", source="ORDO:382/attributed"} @@ -253377,7 +256536,7 @@ xref: Orphanet:100924 {source="OMIM:612740", source="MONDO:equivalentTo"} xref: UMLS:C0268328 {source="OMIM:612740", source="NCBI:mim2gene_medline"} xref: UMLS:C2748608 {source="OMIM:612740"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease -is_a: MONDO:0002520 {source="Orphanet:100924"} ! acute hepatic porphyria +is_a: MONDO:0002520 {source="MESH:C562618", source="Orphanet:100924"} ! acute hepatic porphyria relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/395 {source="mim2gene_medgen"} ! ALAD property_value: confidence "1.0" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4445/aminolevulinate-dehydratase-deficiency-porphyria xsd:anyURI {source="GARD:0004445"} @@ -253397,8 +256556,10 @@ is_a: MONDO:0024417 {source="MESH:C562460", source="not an actual disorder, this id: MONDO:0013002 name: cone-rod dystrophy 9 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the ADAM9 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ADAM9 cone-rod dystrophy" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy 9" EXACT [MONDO:Lexical, OMIM:612775] synonym: "cone-ROD dystrophy 9; CORD9" RELATED [OMIM:612775] +synonym: "cone-rod dystrophy caused by mutation in ADAM9" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 9" EXACT [MONDORULE:1, OMIM:612775] synonym: "cone-rod dystrophy type 9" EXACT [DOID:0111020, MONDORULE:1] synonym: "CORD9" EXACT [DOID:0111020, MONDO:Lexical, OMIM:612775] @@ -253577,8 +256738,10 @@ is_a: MONDO:0019588 {source="DC-OMIM:612789", source="DOID:0110522", source="OMI id: MONDO:0013011 name: atrial heart septal defect 5 def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the ACTC1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ACTC1 atrial heart septal defect" EXACT [MONDO:design_pattern] synonym: "ASD5" EXACT [DOID:0110110] synonym: "ASD5" RELATED [MONDO:Lexical, OMIM:612794] +synonym: "atrial heart septal defect caused by mutation in ACTC1" EXACT [MONDO:design_pattern] synonym: "atrial heart septal defect type 5" EXACT [DOID:0110110, MONDORULE:1] synonym: "atrial septal defect 5" EXACT [DOID:0110110, MONDO:Lexical, OMIM:612794] synonym: "atrial septal defect 5; ASD5" RELATED [OMIM:612794] @@ -253658,8 +256821,10 @@ def: "Any Brugada syndrome in which the cause of the disease is a mutation in th synonym: "BRGDA5" EXACT [DOID:0110222, MONDO:Lexical, OMIM:612838] synonym: "Brugada syndrome 5" EXACT [MONDO:Lexical, OMIM:612838] synonym: "Brugada syndrome 5; BRGDA5" RELATED [OMIM:612838] +synonym: "Brugada syndrome caused by mutation in SCN1B" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 5" EXACT [DOID:0110222, MONDORULE:1, OMIM:612838] synonym: "Cardiac conduction defect, nonspecific" RELATED [OMIM:612838] +synonym: "SCN1B Brugada syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110222 {source="MONDO:equivalentTo"} xref: ICD10:I49.8 {source="DOID:0110222"} xref: OMIM:612838 {source="DOID:0110222", source="MONDO:equivalentTo"} @@ -253677,6 +256842,7 @@ id: MONDO:0013016 name: leukocyte adhesion deficiency 3 def: "Leukocyte adhesion deficiency type III (LAD-III) is a form of LAD (see this term) characterized by both severe bacterial infections and a severe bleeding disorder." [Orphanet:99844] subset: ordo_clinical_subtype {source="Orphanet:99844"} +synonym: "FERMT3 leukocyte adhesion deficiency" EXACT [MONDO:design_pattern] synonym: "IADD" EXACT [DOID:0110912] synonym: "integrin Activation deficiency disease" RELATED [OMIM:612840] synonym: "integrin activation deficiency disease" EXACT [DOID:0110912] @@ -253688,6 +256854,7 @@ synonym: "LAD3" EXACT [DOID:0110912, MONDO:Lexical, OMIM:612840] synonym: "leukocyte adhesion deficiency 1 variant" EXACT [DOID:0110912] synonym: "leukocyte adhesion deficiency 1 variant" RELATED [OMIM:612840] synonym: "leukocyte adhesion deficiency 3" EXACT [OMIM:612840] +synonym: "leukocyte adhesion deficiency caused by mutation in FERMT3" EXACT [MONDO:design_pattern] synonym: "leukocyte adhesion deficiency type 3" EXACT [DOID:0110912, MONDORULE:1] synonym: "leukocyte adhesion deficiency type III" EXACT [DOID:0110912] synonym: "leukocyte adhesion deficiency, type 3" RELATED [OMIM:612840] @@ -253723,7 +256890,7 @@ xref: MESH:C567554 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612841 {source="DOID:0110702", source="MONDO:equivalentTo"} xref: Orphanet:444 {source="OMIM:612841", source="MONDO:subClassOf"} xref: UMLS:C2748535 {source="NCBI:mim2gene_medline", source="OMIM:612841", source="MONDO:equivalentTo"} -is_a: MONDO:0003037 {source="MESH:C567554", source="MONDO:Redundant", source="OMIM:612841"} ! hypotrichosis +is_a: MONDO:0003037 {source="DOID:0110702", source="MESH:C567554", source="MONDO:Redundant", source="OMIM:612841"} ! hypotrichosis is_a: MONDO:0018631 {source="ORDO:444/btnt"} ! Marie Unna hereditary hypotrichosis property_value: confidence "7.333333333333332" xsd:double @@ -253757,8 +256924,8 @@ xref: Orphanet:93282 {source="OMIM:612847", source="MONDO:superClassOf"} xref: SCTID:719172003 {source="MONDO:equivalentTo"} xref: UMLS:C2748515 {source="NCBI:mim2gene_medline", source="OMIM:612847"} xref: UMLS:C2748516 {source="OMIM:612847"} -is_a: MONDO:0000844 {source="DOID:0050812"} ! spondyloepimetaphyseal dysplasia -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0000844 {source="DOID:0050812", source="linkedlifedata"} ! spondyloepimetaphyseal dysplasia +is_a: MONDO:0003847 {source="linkedlifedata/inferred"} ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8604 {source="mim2gene_medgen"} ! PAPSS2 [Term] @@ -253815,8 +256982,8 @@ property_value: confidence "4.999999999999999" xsd:double [Term] id: MONDO:0013023 -name: OFC12 -synonym: "cleft 51P with or without cleft palate, nonsyndromic, 12" RELATED [OMIM:612858] +name: orofacial cleft 12 +synonym: "cleft lip with or without cleft palate, nonsyndromic, 12" RELATED [OMIM:612858] synonym: "OFC12" EXACT [MONDO:Lexical, OMIM:612858] synonym: "orofacial cleft 12" RELATED [MONDO:Lexical, OMIM:612858] synonym: "orofacial cleft 12; OFC12" RELATED [OMIM:612858] @@ -253825,9 +256992,7 @@ xref: OMIM:612858 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:612858", source="MONDO:subClassOf"} xref: UMLS:C2748505 {source="NCBI:mim2gene_medline", source="OMIM:612858", source="MONDO:equivalentTo"} is_a: MONDO:0000358 {source="MONDO:Redundant", source="OMIM:612858"} ! orofacial cleft -is_a: MONDO:0015420 ! cleft lip and alveolus -is_a: MONDO:0016043 ! isolated cleft lip -is_a: MONDO:0016044 ! cleft lip/palate +relationship: has_modifier MONDO:0021128 ! has an isolated presentation property_value: confidence "1.7876687750502525" xsd:double [Term] @@ -253951,7 +257116,7 @@ xref: GARD:0010481 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:612876 {source="MONDO:equivalentTo"} xref: UMLS:C1421994 {source="NCBI:mim2gene_medline", source="OMIM:612876"} xref: UMLS:C3887996 {source="MONDO:equivalentTo"} -is_a: MONDO:0020380 {source="DC-OMIM:612876"} ! autosomal dominant cerebellar ataxia +is_a: MONDO:0020380 {source="DC-OMIM:612876", source="OMIM:612876"} ! autosomal dominant cerebellar ataxia [Term] id: MONDO:0013030 @@ -253962,6 +257127,8 @@ synonym: "cardiomyopathy, dilated, 1BB; CMD1BB" RELATED [OMIM:612877] synonym: "cardiomyopathy, dilated, type 1Bb" EXACT [MONDORULE:9, OMIM:612877] synonym: "CMD1BB" EXACT [DOID:0110458, MONDO:Lexical, OMIM:612877] synonym: "dilated cardiomyopathy type 1BB" EXACT [DOID:0110458, MONDORULE:9] +synonym: "DSG2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in DSG2" EXACT [MONDO:design_pattern] xref: DOID:0110458 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110458", source="MONDO:subClassOf"} xref: MESH:C567877 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -253992,10 +257159,12 @@ property_value: confidence "5.0" xsd:double id: MONDO:0013032 name: epilepsy, idiopathic generalized, susceptibility to, 8 def: "Any generalised epilepsy in which the cause of the disease is a mutation in the CASR gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CASR generalised epilepsy" EXACT [MONDO:design_pattern] synonym: "EIG8" RELATED [MONDO:Lexical, OMIM:612899] synonym: "epilepsy, idiopathic generalized, susceptibility to, 8" EXACT [MONDO:Lexical, OMIM:612899] synonym: "epilepsy, idiopathic generalized, susceptibility to, 8; EIG8" RELATED [OMIM:612899] synonym: "epilepsy, idiopathic generalized, susceptibility to, type 8" EXACT [MONDORULE:1, OMIM:612899] +synonym: "generalised epilepsy caused by mutation in CASR" EXACT [MONDO:design_pattern] synonym: "susceptibility to idiopathic generalized epilepsy 8" RELATED [OMIM:612899] xref: OMIM:612899 {source="MONDO:equivalentTo"} xref: UMLS:C2752062 {source="NCBI:mim2gene_medline", source="OMIM:612899"} @@ -254014,6 +257183,8 @@ synonym: "cerebral palsy, spastic quadriplegic, 2" EXACT [MONDO:Lexical, OMIM:61 synonym: "cerebral palsy, spastic quadriplegic, 2; CPSQ2" RELATED [OMIM:612900] synonym: "cerebral palsy, spastic quadriplegic, type 2" EXACT [MONDORULE:1, OMIM:612900] synonym: "CPSQ2" RELATED [MONDO:Lexical, OMIM:612900] +synonym: "KANK1 spastic quadriplegia" EXACT [MONDO:design_pattern] +synonym: "spastic quadriplegia caused by mutation in KANK1" EXACT [MONDO:design_pattern] xref: MESH:C567867 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612900 {source="MONDO:equivalentTo"} xref: Orphanet:210141 {source="OMIM:612900", source="MONDO:subClassOf"} @@ -254028,12 +257199,14 @@ property_value: confidence "0.6790123456790123" xsd:double id: MONDO:0013034 name: keratosis palmoplantaris striata 2 def: "Any striate palmoplantar keratoderma in which the cause of the disease is a mutation in the DSP gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DSP striate palmoplantar keratoderma" EXACT [MONDO:design_pattern] synonym: "keratoderma, palmoplantar, striate form 2" RELATED [OMIM:612908] synonym: "keratosis palmoplantaris striata II" RELATED [MONDO:Lexical, OMIM:612908] synonym: "keratosis palmoplantaris striata II; PPKS2" RELATED [OMIM:612908] synonym: "keratosis palmoplantaris striata type 2" EXACT [MONDORULE:1, OMIM:612908] synonym: "PPKS2" RELATED [MONDO:Lexical, OMIM:612908] synonym: "striate palmoplantar keratoderma 2" RELATED [OMIM:612908] +synonym: "striate palmoplantar keratoderma caused by mutation in DSP" EXACT [MONDO:design_pattern] xref: MESH:C565102 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612908 {source="MONDO:equivalentTo"} xref: Orphanet:50942 {source="OMIM:612908", source="MONDO:subClassOf"} @@ -254142,8 +257315,10 @@ property_value: confidence "9.0" xsd:double id: MONDO:0013039 name: three M syndrome 2 def: "Any 3-M syndrome in which the cause of the disease is a mutation in the OBSL1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "3-M syndrome caused by mutation in OBSL1" EXACT [MONDO:design_pattern] synonym: "3M syndrome 2" RELATED [OMIM:612921] synonym: "3M2" RELATED [MONDO:Lexical, OMIM:612921] +synonym: "OBSL1 3-M syndrome" EXACT [MONDO:design_pattern] synonym: "three M syndrome 2" EXACT [MONDO:Lexical, OMIM:612921] synonym: "three M syndrome 2; 3M2" RELATED [OMIM:612921] synonym: "three M syndrome type 2" EXACT [MONDORULE:1, OMIM:612921] @@ -254323,6 +257498,7 @@ name: glycogen storage disease due to lactate dehydrogenase M-subunit deficiency def: "A condition that affects how the body breaks down sugar to use as energy in muscle cells. People withthis conditionexperience fatigue, muscle pain, and cramps during exercise (exercise intolerance). In some people,high-intensity exercise or other strenuous activity leads to the breakdown of muscle tissue ( rhabdomyolysis ), which can lead to myoglobinuria (rust-colored urine indicating breakdown of muscle tissue) and kidney damage. A skin rash may also develop. The severity of the signs and symptoms varies greatly among affected individuals. Lactate dehydrogenase A deficiency is caused by mutations in the LDHA gene. This condition is inherited in an autosomal recessive pattern." [GARD:0003160] subset: gard_rare subset: ordo_clinical_subtype {source="Orphanet:284426"} +synonym: "glycogen storage disease caused by mutation in LDHA" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease type 11" RELATED AMBIGUOUS [MONDORULE:2, OMIM:612933, Orphanet:284426] synonym: "glycogen storage disease XI" RELATED [GARD:0003160, MESH:C538133] synonym: "glycogen storage disease XI; GSD11" RELATED AMBIGUOUS [OMIM:612933] @@ -254337,6 +257513,7 @@ synonym: "lactate dehydrogenase A deficiency" EXACT [Orphanet:284426] synonym: "lactate dehydrogenase A deficiency" RELATED [MESH:C538133, OMIM:612933] synonym: "lactate dehydrogenase deficiency type A" RELATED [GARD:0003160] synonym: "LDH-M subunit deficiency" EXACT [Orphanet:284426] +synonym: "LDHA glycogen storage disease" EXACT [MONDO:design_pattern] xref: GARD:0003160 {source="MONDO:equivalentTo"} xref: http://identifiers.org/hgnc/6535 {source="GARD:0003160"} xref: ICD10:E74.0 {source="Orphanet:284426", source="ORDO:284426/ntbt", source="MONDO:subClassOf", source="ORDO:284426/attributed"} @@ -254351,6 +257528,8 @@ xref: UMLS:C2931743 {source="Orphanet:284426", source="OMIM:612933"} is_a: MONDO:0002412 {source="MESH:C538133", source="MONDO:Redundant", source="Orphanet:284426/inferred"} ! glycogen storage disease is_a: MONDO:0016118 {source="Orphanet:284426"} ! muscular glycogenosis is_a: MONDO:0016527 {source="MONDOLEX:0013047", source="Orphanet:284426"} ! glycogen storage disease due to lactate dehydrogenase deficiency +intersection_of: MONDO:0002412 {source="mim2gene_medgen"} ! glycogen storage disease +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6535 {source="mim2gene_medgen"} ! LDHA relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6535 {source="mim2gene_medgen"} ! LDHA property_value: confidence "7.125000000000002" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3160/lactate-dehydrogenase-a-deficiency xsd:anyURI {source="GARD:0003160"} @@ -254359,10 +257538,12 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3160/lactate- id: MONDO:0013048 name: hereditary spastic paraplegia 50 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4M1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AP4M1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 50" EXACT [DOID:0110802] synonym: "cerebral palsy, spastic quadriplegic, 3" RELATED [OMIM:612936] synonym: "cerebral palsy, spastic quadriplegic, 3, formerly" RELATED [OMIM:612936] synonym: "CPSQ3" EXACT [DOID:0110802] +synonym: "hereditary spastic paraplegia caused by mutation in AP4M1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 50" EXACT [DOID:0110802, MONDORULE:2] synonym: "spastic paraplegia 50, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612936] synonym: "spastic paraplegia 50, autosomal recessive; SPG50" RELATED [OMIM:612936] @@ -254374,7 +257555,7 @@ xref: OMIM:612936 {source="DOID:0110802", source="MONDO:equivalentTo"} xref: Orphanet:280763 {source="OMIM:612936", source="MONDO:subClassOf", source="DOID:0110802"} xref: UMLS:C2752008 {source="NCBI:mim2gene_medline", source="OMIM:612936", source="MONDO:equivalentTo"} is_a: MONDO:0017241 {source="ORDO:280763/btnt"} ! severe intellectual disability and progressive spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:612936"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110802", source="MESH:C567858", source="MONDO:Redundant", source="OMIM:612936"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/574 ! AP4M1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/574 {source="mim2gene_medgen"} ! AP4M1 @@ -254418,8 +257599,8 @@ id: MONDO:0013050 name: lethal polymalformative syndrome, Boissel type subset: ordo_malformation_syndrome {source="Orphanet:210144"} synonym: "GDFD" RELATED [MONDO:Lexical, OMIM:612938] -synonym: "GROWTH retardation, developmental delay, and facial DYSMORPHISM" RELATED [MONDO:Lexical, OMIM:612938] -synonym: "GROWTH retardation, developmental delay, and facial DYSMORPHISM; GDFD" RELATED [OMIM:612938] +synonym: "growth retardation, developmental delay, and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:612938] +synonym: "growth retardation, developmental delay, and facial dysmorphism; GDFD" RELATED [OMIM:612938] xref: ICD10:Q87.8 {source="ORDO:210144/attributed", source="Orphanet:210144", source="ORDO:210144/ntbt"} xref: MESH:C567856 {source="MONDO:equivalentTo"} xref: OMIM:612938 {source="ORDO:210144/e", source="Orphanet:210144", source="MONDO:equivalentTo"} @@ -254439,6 +257620,7 @@ subset: gard_rare {source="GARD:0001641"} subset: ordo_disease {source="Orphanet:357064"} synonym: "ARCL2, progeroid type" EXACT [DOID:0070137, Orphanet:357064] synonym: "ARCL2B" EXACT [DOID:0070137, MONDO:Lexical, OMIM:612940, Orphanet:357064] +synonym: "autosomal recessive cutis laxa type 2 caused by mutation in PYCR1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive cutis laxa type 2, progeroid type" EXACT [Orphanet:357064] synonym: "autosomal recessive cutis laxa type IIB" RELATED [DOID:0070137] synonym: "cutis laxa with progeroid features" RELATED [OMIM:612940] @@ -254446,6 +257628,7 @@ synonym: "cutis laxa, autosomal recessive type 2B" RELATED [GARD:0001641] synonym: "cutis laxa, autosomal recessive, type 2B" RELATED [OMIM:612940] synonym: "cutis laxa, autosomal recessive, type IIB" RELATED [MONDO:Lexical, OMIM:612940] synonym: "cutis laxa, autosomal recessive, type IIB; ARCL2B" RELATED [OMIM:612940] +synonym: "PYCR1 autosomal recessive cutis laxa type 2" EXACT [MONDO:design_pattern] xref: DOID:0070137 {source="MONDO:equivalentTo"} xref: GARD:0001641 {source="MONDO:equivalentTo"} xref: ICD10:Q82.8 {source="Orphanet:357064", source="ORDO:357064/attributed", source="ORDO:357064/ntbt"} @@ -254467,8 +257650,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1641/cutis-la id: MONDO:0013052 name: retinitis pigmentosa 42 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KLHL7 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KLHL7 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 42" EXACT [MONDO:Lexical, OMIM:612943] synonym: "retinitis pigmentosa 42; RP42" RELATED [OMIM:612943] +synonym: "retinitis pigmentosa caused by mutation in KLHL7" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 42" EXACT [DOID:0110386, MONDORULE:2, OMIM:612943] synonym: "RP42" EXACT [DOID:0110386, MONDO:Lexical, OMIM:612943] xref: DOID:0110386 {source="MONDO:equivalentTo"} @@ -254585,7 +257770,9 @@ def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a muta synonym: "AGS5" RELATED [MONDO:Lexical, OMIM:612952] synonym: "Aicardi-Goutieres syndrome 5" EXACT [MONDO:Lexical, OMIM:612952] synonym: "Aicardi-Goutieres syndrome 5; AGS5" RELATED [OMIM:612952] +synonym: "Aicardi-Goutieres syndrome caused by mutation in SAMHD1" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 5" EXACT [MONDORULE:1, OMIM:612952] +synonym: "SAMHD1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern] synonym: "SAMHD1-related Aicardi-Goutieres syndrome" RELATED [GARD:0010151] xref: GARD:0010151 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: MESH:C535608 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -254608,9 +257795,11 @@ synonym: "autosomal recessive Parkinson disease type 14" EXACT [DOID:0060900, MO synonym: "autosomal recessive Parkinson's disease 14" RELATED [DOID:0060900] synonym: "Dystonia-Parkinsonism, adult-onset" RELATED [OMIM:612953] synonym: "Dystonia-parkinsonism, Paisan-Ruiz type" EXACT [Orphanet:199351] +synonym: "hereditary late onset Parkinson disease caused by mutation in PLA2G6" EXACT [MONDO:design_pattern] synonym: "PARK14" EXACT [MONDO:Lexical, OMIM:612953, Orphanet:199351] synonym: "Parkinson disease 14, autosomal recessive" RELATED [MONDO:Lexical, OMIM:612953] synonym: "Parkinson disease 14, autosomal recessive; PARK14" RELATED [OMIM:612953] +synonym: "PLA2G6 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern] synonym: "PLA2G6-related dystonia-parkinsonism" EXACT [Orphanet:199351] xref: DOID:0060900 {source="MONDO:equivalentTo"} xref: GARD:0012568 {source="Orphanet-shared", source="MONDO:equivalentTo"} @@ -254620,7 +257809,7 @@ xref: OMIM:612953 {source="DOID:0060900", source="Orphanet:199351", source="ORDO xref: Orphanet:199351 {source="OMIM:612953", source="MONDO:equivalentTo"} xref: SCTID:720466001 {source="MONDO:kboom-pr-0.76/0.38/0.66", source="MONDO:equivalentTo"} xref: UMLS:C2751842 {source="NCBI:mim2gene_medline", source="OMIM:612953", source="Orphanet:199351", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:612953"} ! Parkinson disease +is_a: MONDO:0005180 {source="DOID:0060900/inferred", source="MONDO:Redundant", source="OMIM:612953"} ! Parkinson disease is_a: MONDO:0017998 {source="Orphanet:199351"} ! PLA2G6-associated neurodegeneration is_a: MONDO:0018329 {source="Orphanet:199351"} ! persistent combined dystonia is_a: MONDO:0018466 {source="DOID:0060900", source="Orphanet:411602"} ! hereditary late onset Parkinson disease @@ -254661,8 +257850,10 @@ name: long QT syndrome 12 def: "Any long QT syndrome in which the cause of the disease is a mutation in the SNTA1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "long QT syndrome 12" EXACT [MONDO:Lexical, OMIM:612955] synonym: "long QT syndrome 12; LQT12" RELATED [OMIM:612955] +synonym: "long QT syndrome caused by mutation in SNTA1" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 12" EXACT [DOID:0110653, MONDORULE:2, OMIM:612955] synonym: "LQT12" EXACT [DOID:0110653, MONDO:Lexical, OMIM:612955] +synonym: "SNTA1 long QT syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110653 {source="MONDO:equivalentTo"} xref: ICD10:I45.8 {source="DOID:0110653"} xref: MESH:C567842 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -254670,7 +257861,7 @@ xref: OMIM:612955 {source="DOID:0110653", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="MONDO:directSiblingOf", source="OMIM:612955", source="MONDO:subClassOf"} xref: Orphanet:768 {source="OMIM:612955", source="MONDO:subClassOf"} xref: UMLS:C2751830 {source="NCBI:mim2gene_medline", source="OMIM:612955", source="MONDO:equivalentTo"} -is_a: MONDO:0002442 {source="MESH:C567842", source="MONDO:Redundant", source="OMIM:612955"} ! long QT syndrome +is_a: MONDO:0002442 {source="DOID:0110653", source="MESH:C567842", source="MONDO:Redundant", source="OMIM:612955"} ! long QT syndrome is_a: MONDO:0019171 {source="OMIM:612955", source="Orphanet:101016-prototype"} ! familial long QT syndrome intersection_of: MONDO:0002442 ! long QT syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11167 ! SNTA1 @@ -254700,8 +257891,10 @@ property_value: confidence "1.6470588235294117" xsd:double id: MONDO:0013064 name: multiple synostoses syndrome 3 def: "Any multiple synostoses syndrome in which the cause of the disease is a mutation in the FGF9 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FGF9 multiple synostoses syndrome" EXACT [MONDO:design_pattern] synonym: "multiple synostoses syndrome 3" EXACT [MONDO:Lexical, OMIM:612961] synonym: "multiple synostoses syndrome 3; SYNS3" RELATED [OMIM:612961] +synonym: "multiple synostoses syndrome caused by mutation in FGF9" EXACT [MONDO:design_pattern] synonym: "multiple synostoses syndrome type 3" EXACT [MONDORULE:1, OMIM:612961] synonym: "SYNS3" RELATED [MONDO:Lexical, OMIM:612961] xref: MESH:C567839 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -254719,10 +257912,12 @@ id: MONDO:0013065 name: premature ovarian failure 7 def: "Any primary ovarian failure in which the cause of the disease is a mutation in the NR5A1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "adrenal insufficiency, Nr5A1-Related" RELATED [OMIM:612964] +synonym: "NR5A1 primary ovarian failure" EXACT [MONDO:design_pattern] synonym: "Pof7" RELATED [MONDO:Lexical, OMIM:612964] synonym: "premature ovarian failure 7" EXACT [MONDO:Lexical, OMIM:612964] synonym: "premature ovarian failure 7; Pof7" RELATED [OMIM:612964] synonym: "premature ovarian failure type 7" EXACT [MONDORULE:1, OMIM:612964] +synonym: "primary ovarian failure caused by mutation in NR5A1" EXACT [MONDO:design_pattern] xref: MESH:C567838 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612964 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:612964"} @@ -254773,7 +257968,7 @@ xref: OMIM:612968 {source="DOID:0110230", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="OMIM:612968", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: Orphanet:98993 {source="OMIM:612968", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C2751822 {source="NCBI:mim2gene_medline", source="OMIM:612968", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C567835", source="OMIM:612968"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110230", source="MESH:C567835", source="OMIM:612968"} ! cataract (disease) intersection_of: MONDO:0005129 ! cataract (disease) intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3808 ! FOXE3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3808 {source="mim2gene_medgen"} ! FOXE3 @@ -254804,7 +257999,7 @@ xref: MESH:C567833 {source="MONDO:equivalentTo"} xref: OMIM:612989 {source="ORDO:227976/e", source="MONDO:equivalentTo", source="Orphanet:227976"} xref: Orphanet:227976 {source="OMIM:612989", source="MONDO:equivalentTo"} xref: UMLS:C2751812 {source="NCBI:mim2gene_medline", source="OMIM:612989", source="MONDO:equivalentTo"} -is_a: MONDO:0003608 {source="DC-OMIM:612989", source="OMIM:612989"} ! optic atrophy +is_a: MONDO:0003608 {source="DC-OMIM:612989", source="MESH:C567833/inferred", source="OMIM:612989"} ! optic atrophy is_a: MONDO:0016799 {source="Orphanet:227976"} ! mitochondrial oxidative phosphorylation disorder with no known mechanism is_a: MONDO:0018609 {source="Orphanet:227976"} ! syndromic hereditary optic neuropathy is_a: MONDO:0020127 {source="OWLReasoner:2017"} ! genetic peripheral neuropathy @@ -254834,10 +258029,12 @@ property_value: confidence "29.333333333333442" xsd:double id: MONDO:0013071 name: Emery-Dreifuss muscular dystrophy 4, autosomal dominant def: "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE1" EXACT [MONDO:design_pattern] synonym: "EDMD4" RELATED [MONDO:Lexical, OMIM:612998] synonym: "Emery-Dreifuss muscular dystrophy 4 with variable features" RELATED [OMIM:612998] synonym: "Emery-Dreifuss muscular dystrophy 4, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612998] synonym: "EMERY-Dreifuss muscular dystrophy 4, autosomal dominant; EDMD4" RELATED [OMIM:612998] +synonym: "SYNE1 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern] xref: MESH:C567831 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:612998 {source="MONDO:equivalentTo"} xref: Orphanet:261 {source="OMIM:612998", source="MONDO:subClassOf"} @@ -254854,9 +258051,11 @@ property_value: confidence "0.16640000000000033" xsd:double id: MONDO:0013072 name: Emery-Dreifuss muscular dystrophy 5, autosomal dominant def: "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the SYNE2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in SYNE2" EXACT [MONDO:design_pattern] synonym: "EDMD5" RELATED [MONDO:Lexical, OMIM:612999] synonym: "Emery-Dreifuss muscular dystrophy 5, autosomal dominant" EXACT [MONDO:Lexical, OMIM:612999] synonym: "EMERY-Dreifuss muscular dystrophy 5, autosomal dominant; EDMD5" RELATED [OMIM:612999] +synonym: "SYNE2 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern] xref: OMIM:612999 {source="MONDO:equivalentTo"} xref: Orphanet:261 {source="OMIM:612999", source="MONDO:subClassOf"} xref: Orphanet:98853 {source="OMIM:612999", source="MONDO:subClassOf"} @@ -254875,6 +258074,8 @@ def: "Any nonepidermolytic palmoplantar keratoderma in which the cause of the di synonym: "FNEPPK1" RELATED [MONDO:Lexical, OMIM:613000] synonym: "focal nonepidermolytic palmoplantar keratoderma" RELATED [OMIM:613000] synonym: "keratoderma, focal nonepidermolytic palmoplantar" RELATED [OMIM:613000] +synonym: "KRT16 nonepidermolytic palmoplantar keratoderma" EXACT [MONDO:design_pattern] +synonym: "nonepidermolytic palmoplantar keratoderma caused by mutation in KRT16" EXACT [MONDO:design_pattern] synonym: "palmoplantar keratoderma, nonepidermolytic, focal 1" EXACT [MONDO:Lexical, OMIM:613000] synonym: "palmoplantar keratoderma, nonepidermolytic, focal 1; FNEPPK1" RELATED [OMIM:613000] synonym: "palmoplantar keratoderma, nonepidermolytic, focal type 1" EXACT [MONDORULE:1, OMIM:613000] @@ -254908,7 +258109,7 @@ xref: OMIM:613001 {source="Orphanet:2396", source="ORDO:2396/e", source="MONDO:e xref: Orphanet:2396 {source="OMIM:613001", source="MONDO:equivalentTo"} xref: SCTID:238905009 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0406612 {source="Orphanet:2396", source="NCBI:mim2gene_medline", source="NCIT:C4701", source="ORDO:2396/e", source="OMIM:613001", source="MONDO:equivalentTo"} -is_a: MONDO:0002531 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-03-06", source="Orphanet:2396/inferred", source="linkedlifedata"} ! skin neoplasm +is_a: MONDO:0002531 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-03-06", source="Orphanet:2396/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin neoplasm is_a: MONDO:0006574 {source="MESH:C535736", source="NCIT:C4701"} ! lipomatosis is_a: MONDO:0015949 {source="Orphanet:2396"} ! rare genetic subcutaneous tissue disorder is_a: MONDO:0015950 {source="Orphanet:2396"} ! inherited skin tumor @@ -254984,7 +258185,7 @@ xref: MESH:C567817 {source="MONDO:equivalentTo"} xref: OMIM:613007 {source="MONDO:equivalentTo"} xref: Orphanet:186 {source="OMIM:613007", source="MONDO:subClassOf"} xref: UMLS:C2751696 {source="NCBI:mim2gene_medline", source="OMIM:613007", source="MONDO:equivalentTo"} -is_a: MONDO:0005388 {source="DC-OMIM:613007", source="MONDOLEX:0013079", source="OMIM:613007"} ! primary biliary cholangitis +is_a: MONDO:0005388 {source="DC-OMIM:613007", source="MESH:C567817", source="MONDOLEX:0013079", source="OMIM:613007"} ! primary biliary cholangitis property_value: confidence "3.0" xsd:double [Term] @@ -254997,16 +258198,18 @@ xref: MESH:C567816 {source="MONDO:equivalentTo"} xref: OMIM:613008 {source="MONDO:equivalentTo"} xref: Orphanet:186 {source="OMIM:613008", source="MONDO:subClassOf"} xref: UMLS:C2751695 {source="NCBI:mim2gene_medline", source="OMIM:613008", source="MONDO:equivalentTo"} -is_a: MONDO:0005388 {source="DC-OMIM:613008", source="MONDOLEX:0013080", source="OMIM:613008"} ! primary biliary cholangitis +is_a: MONDO:0005388 {source="DC-OMIM:613008", source="MESH:C567816", source="MONDOLEX:0013080", source="OMIM:613008"} ! primary biliary cholangitis property_value: confidence "3.0" xsd:double [Term] id: MONDO:0013081 name: lymphoproliferative syndrome 1 def: "A condition of decreased or absent presence or activity of IL2-inducible t-cell kinase. Deficiency of this protein is associated with lymphoproliferative syndrome 1, an autosomal recessive primary immunodeficiency characterized by onset in early childhood of Epstein-Barr virus (EBV)-associated immune dysregulation, manifest as lymphoma, lymphomatoid granulomatosis, hemophagocytic lymphohistiocytosis, Hodgkin disease, and/or hypogammaglobulinemia.." [NCIT:C126344] +synonym: "ITK lymphoproliferative syndrome" EXACT [MONDO:design_pattern] synonym: "LPFS1" EXACT [DOID:0060707, MONDO:Lexical, OMIM:613011] synonym: "lymphoproliferative syndrome 1" EXACT [MONDO:Lexical, OMIM:613011] synonym: "lymphoproliferative syndrome 1; LPFS1" RELATED [OMIM:613011] +synonym: "lymphoproliferative syndrome caused by mutation in ITK" EXACT [MONDO:design_pattern] synonym: "lymphoproliferative syndrome type 1" EXACT [DOID:0060707, MONDORULE:1, OMIM:613011] xref: DOID:0060707 {source="MONDO:equivalentTo"} xref: ICD10:D47.9 {source="DOID:0060707"} @@ -255017,7 +258220,7 @@ xref: Orphanet:238505 {source="MONDO:subClassOf", source="OMIM:613011"} xref: UMLS:C2751686 {source="NCBI:mim2gene_medline"} xref: UMLS:C3552634 {source="OMIM:613011", source="MONDO:equivalentTo"} is_a: MONDO:0016536 {source="ORDO:238505/btnt"} ! autosomal recessive lymphoproliferative disease -is_a: MONDO:0016537 {source="MONDO:Redundant", source="OMIM:613011"} ! lymphoproliferative syndrome +is_a: MONDO:0016537 {source="DOID:0060707", source="MESH:C567815", source="MONDO:Redundant", source="OMIM:613011"} ! lymphoproliferative syndrome is_a: MONDO:0021094 {source="NCIT:C126344"} ! immunodeficiency syndrome intersection_of: MONDO:0016537 ! lymphoproliferative syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6171 ! ITK @@ -255054,7 +258257,9 @@ property_value: confidence "4.75" xsd:double id: MONDO:0013083 name: neuroblastoma, susceptibility to, 3 def: "Any neuroblastoma in which the cause of the disease is a mutation in the ALK gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ALK neuroblastoma" EXACT [MONDO:design_pattern] synonym: "NBLST3" RELATED [MONDO:Lexical, OMIM:613014] +synonym: "neuroblastoma caused by mutation in ALK" EXACT [MONDO:design_pattern] synonym: "neuroblastoma, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:613014] synonym: "neuroblastoma, susceptibility to, 3; NBLST3" RELATED [OMIM:613014] synonym: "neuroblastoma, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613014] @@ -255106,10 +258311,12 @@ id: MONDO:0013087 name: bronchiectasis with or without elevated sweat chloride 2 def: "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1A gene." [MONDO:patterns/disease_series_by_gene] synonym: "BESC2" RELATED [MONDO:Lexical, OMIM:613021] +synonym: "bronchiectasis caused by mutation in SCNN1A" EXACT [MONDO:design_pattern] synonym: "bronchiectasis with or without elevated sweat chloride 2" EXACT [MONDO:Lexical, OMIM:613021] synonym: "bronchiectasis with or without elevated sweat chloride 2; BESC2" RELATED [OMIM:613021] synonym: "bronchiectasis with or without elevated sweat chloride type 2" EXACT [MONDORULE:1, OMIM:613021] synonym: "cystic fibrosis-Like syndrome" RELATED [OMIM:613021] +synonym: "SCNN1A bronchiectasis" EXACT [MONDO:design_pattern] xref: MESH:C567813 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613021 {source="MONDO:equivalentTo"} xref: Orphanet:60033 {source="MONDO:subClassOf", source="OMIM:613021"} @@ -255183,6 +258390,7 @@ id: MONDO:0013091 name: glycogen storage disease IXc def: "Glycogen storage disease (GSD) due to liver phosphorylase kinase (PhK) deficiency is a benign inborn error of glycogen metabolism characterized by hepatomegaly, growth retardation, and mild delay in motor development during childhood." [Orphanet:264580] subset: ordo_disease {source="Orphanet:264580"} +synonym: "glycogen storage disease caused by mutation in PHKG2" EXACT [MONDO:design_pattern] synonym: "glycogen storage disease due to liver phosphorylase kinase deficiency" RELATED [Orphanet:264580] synonym: "glycogen storage disease IXc" EXACT [MONDO:Lexical, OMIM:613027] synonym: "glycogen storage disease IXc; GSD9C" RELATED [OMIM:613027] @@ -255202,6 +258410,7 @@ synonym: "GSD type 9C" EXACT [DOID:0111043, Orphanet:264580] synonym: "GSD type IXa" EXACT [Orphanet:264580] synonym: "GSD type IXc" EXACT [DOID:0111043, Orphanet:264580] synonym: "GSD9C" EXACT [DOID:0111043, MONDO:Lexical, OMIM:613027] +synonym: "PHKG2 glycogen storage disease" EXACT [MONDO:design_pattern] synonym: "XLG" EXACT [Orphanet:264580] xref: DOID:0111043 {source="MONDO:equivalentTo"} xref: ICD10:E74.0 {source="DOID:0111043", source="MONDO:subClassOf", source="ORDO:264580/ntbt", source="Orphanet:264580", source="ORDO:264580/attributed"} @@ -255213,6 +258422,8 @@ xref: UMLS:C2751643 {source="OMIM:613027", source="NCBI:mim2gene_medline", sourc is_a: MONDO:0000366 {source="DOID:0111043", source="MONDOLEX:0013091"} ! glycogen storage disease IX is_a: MONDO:0015115 {source="Orphanet:264580"} ! rare metabolic liver disease is_a: MONDO:0018251 {source="MONDOLEX:0013091", source="Orphanet:264580"} ! glycogen storage disease due to phosphorylase kinase deficiency +intersection_of: MONDO:0002412 {source="mim2gene_medgen"} ! glycogen storage disease +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8931 {source="mim2gene_medgen"} ! PHKG2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8931 {source="mim2gene_medgen"} ! PHKG2 property_value: confidence "0.7971874999999999" xsd:double @@ -255224,6 +258435,8 @@ synonym: "glioma susceptibility 2" EXACT [MONDO:Lexical, OMIM:613028] synonym: "glioma susceptibility 2; GLM2" RELATED [OMIM:613028] synonym: "glioma susceptibility type 2" EXACT [MONDORULE:1, OMIM:613028] synonym: "GLM2" RELATED [MONDO:Lexical, OMIM:613028] +synonym: "malignant glioma caused by mutation in PTEN" EXACT [MONDO:design_pattern] +synonym: "PTEN malignant glioma" EXACT [MONDO:design_pattern] xref: OMIM:613028 {source="MONDO:equivalentTo"} xref: Orphanet:182067 {source="OMIM:613028", source="MONDO:subClassOf"} xref: UMLS:C2751642 {source="NCBI:mim2gene_medline", source="OMIM:613028"} @@ -255237,10 +258450,12 @@ property_value: confidence "0.6200000000000001" xsd:double id: MONDO:0013093 name: glioma susceptibility 3 def: "Any malignant glioma in which the cause of the disease is a mutation in the BRCA2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BRCA2 malignant glioma" EXACT [MONDO:design_pattern] synonym: "glioma susceptibility 3" EXACT [MONDO:Lexical, OMIM:613029] synonym: "glioma susceptibility 3; GLM3" RELATED [OMIM:613029] synonym: "glioma susceptibility type 3" EXACT [MONDORULE:1, OMIM:613029] synonym: "GLM3" RELATED [MONDO:Lexical, OMIM:613029] +synonym: "malignant glioma caused by mutation in BRCA2" EXACT [MONDO:design_pattern] xref: OMIM:613029 {source="MONDO:equivalentTo"} xref: Orphanet:182067 {source="OMIM:613029", source="MONDO:subClassOf"} xref: Orphanet:360 {source="OMIM:613029", source="MONDO:relatedTo", source="MONDO:superClassOf"} @@ -255317,7 +258532,7 @@ xref: SCTID:73415002 {source="MONDO:kboom-pr-0.74/0.37/0.54", source="MONDO:equi xref: UMLS:C0018781 {source="NCIT:C34664"} xref: UMLS:C2751629 {source="OMIM:613035", source="NCBI:mim2gene_medline"} is_a: MONDO:0003847 ! inherited genetic disease -is_a: MONDO:0005365 {source="EFO:1001254", source="NCIT:C34664", source="linkedlifedata"} ! hearing loss +is_a: MONDO:0005365 {source="EFO:1001254", source="MESH:D006317/inferred", source="NCIT:C34664", source="linkedlifedata"} ! hearing loss [Term] id: MONDO:0013099 @@ -255391,10 +258606,12 @@ synonym: "epilepsy, idiopathic generalized, susceptibility to, 10" EXACT [MONDO: synonym: "epilepsy, idiopathic generalized, susceptibility to, 10; EIG10" RELATED [OMIM:613060] synonym: "epilepsy, idiopathic generalized, susceptibility to, type 10" EXACT [MONDORULE:2, OMIM:613060] synonym: "epilepsy, juvenile myoclonic, susceptibility to, 7" RELATED [OMIM:613060] +synonym: "GABRD juvenile myoclonic epilepsy" EXACT [MONDO:design_pattern] synonym: "Gefs+, type 5, susceptibility to" RELATED [OMIM:613060] synonym: "Gefs+5, susceptibility to" RELATED [OMIM:613060] synonym: "Gefsp5, susceptibility to" RELATED [OMIM:613060] synonym: "generalized epilepsy with febrile seizures plus, type 5, susceptibility to" RELATED [OMIM:613060] +synonym: "juvenile myoclonic epilepsy caused by mutation in GABRD" EXACT [MONDO:design_pattern] synonym: "susceptibility to idiopathic generalized epilepsy 10" RELATED [OMIM:613060] xref: OMIM:613060 {source="MONDO:equivalentTo"} xref: Orphanet:307 {source="OMIM:613060", source="MONDO:subClassOf", source="MONDO:superClassOf"} @@ -255533,10 +258750,12 @@ comment: Editor note: add transient course subset: ordo_disease {source="Orphanet:217371"} synonym: "acute infantile liver failure" BROAD [GARD:0010593] synonym: "acute infantile liver failure due to synthesis defect of mitochondrial DNA-encoded proteins" EXACT [Orphanet:217371] +synonym: "infantile liver failure caused by mutation in TRMU" EXACT [MONDO:design_pattern] synonym: "LFIT" RELATED [MONDO:Lexical, OMIM:613070] synonym: "liver failure, infantile, transient" EXACT [MONDO:Lexical, OMIM:613070] synonym: "liver failure, infantile, transient; LFIT" EXACT [OMIM:613070] synonym: "transient infantile liver failure" EXACT [GARD:0010593] +synonym: "TRMU infantile liver failure" EXACT [MONDO:design_pattern] xref: GARD:0010593 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:K72.0 {source="Orphanet:217371", source="ORDO:217371/attributed", source="ORDO:217371/ntbt"} xref: OMIM:613070 {source="ORDO:217371/e", source="Orphanet:217371", source="MONDO:equivalentTo"} @@ -255557,10 +258776,12 @@ id: MONDO:0013112 name: bronchiectasis with or without elevated sweat chloride 3 def: "Any bronchiectasis in which the cause of the disease is a mutation in the SCNN1G gene." [MONDO:patterns/disease_series_by_gene] synonym: "BESC3" RELATED [MONDO:Lexical, OMIM:613071] +synonym: "bronchiectasis caused by mutation in SCNN1G" EXACT [MONDO:design_pattern] synonym: "bronchiectasis with or without elevated sweat chloride 3" EXACT [MONDO:Lexical, OMIM:613071] synonym: "bronchiectasis with or without elevated sweat chloride 3; BESC3" RELATED [OMIM:613071] synonym: "bronchiectasis with or without elevated sweat chloride type 3" EXACT [MONDORULE:1, OMIM:613071] synonym: "cystic fibrosis-Like syndrome" RELATED [OMIM:613071] +synonym: "SCNN1G bronchiectasis" EXACT [MONDO:design_pattern] xref: MESH:C567772 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613071 {source="MONDO:equivalentTo"} xref: Orphanet:60033 {source="OMIM:613071", source="MONDO:subClassOf"} @@ -255579,7 +258800,9 @@ def: "Any metaphyseal anadysplasia in which the cause of the disease is a mutati synonym: "MANDP2" RELATED [MONDO:Lexical, OMIM:613073] synonym: "metaphyseal anadysplasia 2" EXACT [MONDO:Lexical, OMIM:613073] synonym: "metaphyseal anadysplasia 2; MANDP2" RELATED [OMIM:613073] +synonym: "metaphyseal anadysplasia caused by mutation in MMP9" EXACT [MONDO:design_pattern] synonym: "metaphyseal anadysplasia type 2" EXACT [MONDORULE:1, OMIM:613073] +synonym: "MMP9 metaphyseal anadysplasia" EXACT [MONDO:design_pattern] xref: MESH:C567771 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613073 {source="MONDO:equivalentTo"} xref: Orphanet:1040 {source="OMIM:613073", source="MONDO:subClassOf"} @@ -255658,10 +258881,12 @@ id: MONDO:0013117 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5 def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RRM2B gene." [MONDO:patterns/disease_series_by_gene] synonym: "PEOA5" RELATED [MONDO:Lexical, OMIM:613077] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RRM2B" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5" EXACT [MONDO:Lexical, OMIM:613077] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 5; PEOA5" RELATED [OMIM:613077] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant type 5" EXACT [MONDORULE:1, OMIM:613077] synonym: "progressive external ophthalmoplegia, autosomal dominant 5" RELATED [OMIM:613077] +synonym: "RRM2B progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern] xref: MESH:C567768 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613077 {source="MONDO:equivalentTo"} xref: Orphanet:254892 {source="MONDO:subClassOf", source="OMIM:613077"} @@ -255705,11 +258930,13 @@ id: MONDO:0013119 name: autosomal recessive nonsyndromic deafness 77 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the LOXHD1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 77" EXACT [DOID:0110525] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in LOXHD1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 77" EXACT [DOID:0110525, MONDORULE:2] synonym: "deafness, autosomal recessive 77" RELATED [MONDO:Lexical, OMIM:613079] synonym: "deafness, autosomal recessive 77; DFNB77" RELATED [OMIM:613079] synonym: "deafness, autosomal recessive type 77" EXACT [MONDORULE:2, OMIM:613079] synonym: "DFNB77" EXACT [DOID:0110525, MONDO:Lexical, OMIM:613079] +synonym: "LOXHD1 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110525 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110525"} xref: MESH:C567543 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -255774,10 +259001,12 @@ name: atrial heart septal defect 6 def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the TLL1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ASD6" EXACT [DOID:0110111] synonym: "ASD6" RELATED [MONDO:Lexical, OMIM:613087] +synonym: "atrial heart septal defect caused by mutation in TLL1" EXACT [MONDO:design_pattern] synonym: "atrial heart septal defect type 6" EXACT [DOID:0110111, MONDORULE:1] synonym: "atrial septal defect 6" EXACT [DOID:0110111, MONDO:Lexical, OMIM:613087] synonym: "atrial septal defect 6; ASD6" RELATED [OMIM:613087] synonym: "atrial septal defect type 6" EXACT [MONDORULE:1, OMIM:613087] +synonym: "TLL1 atrial heart septal defect" EXACT [MONDO:design_pattern] xref: DOID:0110111 {source="MONDO:equivalentTo"} xref: ICD10:Q21.1 {source="DOID:0110111"} xref: MESH:C567764 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -255874,12 +259103,14 @@ def: "Familial juvenile hyperuricemic nephropathy type 2 is a rare autosomal dom subset: ordo_disease {source="Orphanet:217330"} synonym: "ADTKD-REN" EXACT [Orphanet:217330] synonym: "early-onset hyperuricemia, Anemia, and progressive kidney failure" RELATED [OMIM:613092] +synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in REN" EXACT [MONDO:design_pattern] synonym: "familial juvenile hyperuricemic nephropathy type 2" EXACT [Orphanet:217330] synonym: "FJHN type 2" EXACT [Orphanet:217330] synonym: "HNFJ2" RELATED [MONDO:Lexical, OMIM:613092] synonym: "hyperuricemic nephropathy, familial juvenile, 2" RELATED [MONDO:Lexical, OMIM:613092] synonym: "hyperuricemic nephropathy, familial juvenile, 2; HNFJ2" RELATED [OMIM:613092] synonym: "hyperuricemic Nephropathy, familial juvenile, type 2" EXACT [MONDORULE:1, OMIM:613092] +synonym: "REN familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern] synonym: "REN-associated familial juvenile hyperuricemic nephropathy" EXACT [Orphanet:217330] synonym: "REN-associated FJHN" EXACT [Orphanet:217330] synonym: "REN-associated kidney disease" EXACT [Orphanet:217330] @@ -255905,7 +259136,9 @@ synonym: "achromatopsia 5" RELATED [OMIM:613093] synonym: "COD4" RELATED [MONDO:Lexical, OMIM:613093] synonym: "cone dystrophy 4" EXACT [MONDO:Lexical, OMIM:613093] synonym: "cone dystrophy 4; COD4" RELATED [OMIM:613093] +synonym: "cone dystrophy caused by mutation in PDE6C" EXACT [MONDO:design_pattern] synonym: "cone dystrophy type 4" EXACT [MONDORULE:1, OMIM:613093] +synonym: "PDE6C cone dystrophy" EXACT [MONDO:design_pattern] xref: OMIM:613093 {source="MONDO:equivalentTo"} xref: Orphanet:1871 {source="OMIM:613093", source="MONDO:subClassOf"} xref: Orphanet:49382 {source="OMIM:613093", source="MONDO:relatedTo", source="MONDO:superClassOf"} @@ -255921,6 +259154,8 @@ property_value: confidence "0.30809469528042244" xsd:double id: MONDO:0013130 name: isolated microphthalmia 4 def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GDF6 isolated microphthalmia" EXACT [MONDO:design_pattern] +synonym: "isolated microphthalmia caused by mutation in GDF6" EXACT [MONDO:design_pattern] synonym: "isolated microphthalmia type 4" EXACT [DOID:0060836, MONDORULE:1] synonym: "MCOP4" EXACT [DOID:0060836, MONDO:Lexical, OMIM:613094] synonym: "microphthalmia, isolated 4" RELATED [MONDO:Lexical, OMIM:613094] @@ -255944,7 +259179,9 @@ id: MONDO:0013131 name: polycystic kidney disease 2 def: "Autosomal dominant polycystic kidney disease caused by a mutation in PKD2." [NCIT:C123166] synonym: "Apkd2" EXACT [DOID:0110859] +synonym: "autosomal dominant polycystic kidney disease caused by mutation in PKD2" EXACT [MONDO:design_pattern] synonym: "PKD2" EXACT [DOID:0110859, MONDO:Lexical, OMIM:613095] +synonym: "PKD2 autosomal dominant polycystic kidney disease" EXACT [MONDO:design_pattern] synonym: "polycystic kidney disease 2" EXACT [MONDO:Lexical, OMIM:613095] synonym: "polycystic kidney disease 2 with or without polycystic liver disease" RELATED [OMIM:613095] synonym: "polycystic kidney disease 2 with OR without polycystic liver disease; PKD2" RELATED [OMIM:613095] @@ -255958,7 +259195,7 @@ xref: OMIM:613095 {source="DOID:0110859", source="MONDO:equivalentTo"} xref: Orphanet:730 {source="OMIM:613095", source="MONDO:subClassOf"} xref: SCTID:253879006 {source="MONDO:kboom-pr-0.76/0.38/0.67", source="MONDO:equivalentTo"} xref: UMLS:C2751306 {source="NCBI:mim2gene_medline", source="OMIM:613095", source="MONDO:equivalentTo"} -is_a: MONDO:0004691 {source="DC-OMIM:613095", source="DOID:0110859", source="OMIM:613095", source="linkedlifedata"} ! autosomal dominant polycystic kidney disease +is_a: MONDO:0004691 {source="DC-OMIM:613095", source="DOID:0110859", source="NCIT:C123166", source="OMIM:613095", source="linkedlifedata"} ! autosomal dominant polycystic kidney disease intersection_of: MONDO:0004691 ! autosomal dominant polycystic kidney disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9009 ! PKD2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9009 {source="mim2gene_medgen"} ! PKD2 @@ -255982,7 +259219,7 @@ xref: Orphanet:320365 {source="DOID:0110787", source="OMIM:613096", source="MOND xref: UMLS:C2936879 {source="NCBI:mim2gene_medline", source="ORDO:320365/e", source="MEDGEN:kboom-pr98-c99", source="OMIM:613096", source="Orphanet:320365", source="MONDO:equivalentTo"} xref: UMLS:C4510078 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015087 {source="Orphanet:320365"} ! autosomal dominant complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:613096", source="Orphanet:320365/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110787", source="MESH:C567930", source="MONDO:Redundant", source="OMIM:613096", source="Orphanet:320365/inferred"} ! hereditary spastic paraplegia property_value: confidence "22.611111111111114" xsd:double [Term] @@ -256011,6 +259248,8 @@ synonym: "glaucoma 1, open angle, O" EXACT [MONDO:Lexical, OMIM:613100] synonym: "glaucoma 1, open angle, O; GLC1O" RELATED [OMIM:613100] synonym: "glaucoma 1, open angle, type O" EXACT [MONDORULE:1, OMIM:613100] synonym: "GLC1O" RELATED [MONDO:Lexical, OMIM:613100] +synonym: "NTF4 open-angle glaucoma" EXACT [MONDO:design_pattern] +synonym: "open-angle glaucoma caused by mutation in NTF4" EXACT [MONDO:design_pattern] xref: MESH:C567753 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613100 {source="MONDO:equivalentTo"} xref: UMLS:C2751294 {source="NCBI:mim2gene_medline", source="OMIM:613100", source="MONDO:equivalentTo"} @@ -256027,11 +259266,13 @@ name: familial hemophagocytic lymphohistiocytosis 5 def: "Any genetic hemophagocytic lymphohistiocytosis in which the cause of the disease is a mutation in the STXBP2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "familial hemophagocytic lymphohistiocytosis type 5" EXACT [DOID:0110925, MONDORULE:1] synonym: "FHL5" EXACT [DOID:0110925, MONDO:Lexical, OMIM:613101] +synonym: "genetic hemophagocytic lymphohistiocytosis caused by mutation in STXBP2" EXACT [MONDO:design_pattern] synonym: "hemophagocytic lymphohistiocytosis, familial, 5" RELATED [MONDO:Lexical, OMIM:613101] synonym: "hemophagocytic lymphohistiocytosis, familial, 5; FHL5" RELATED [OMIM:613101] synonym: "hemophagocytic lymphohistiocytosis, familial, type 5" EXACT [MONDORULE:1, OMIM:613101] synonym: "HLH5" EXACT [DOID:0110925] synonym: "HPLH5" EXACT [DOID:0110925] +synonym: "STXBP2 genetic hemophagocytic lymphohistiocytosis" EXACT [MONDO:design_pattern] xref: DOID:0110925 {source="MONDO:equivalentTo"} xref: MESH:C567752 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613101 {source="DOID:0110925", source="MONDO:equivalentTo"} @@ -256060,10 +259301,12 @@ id: MONDO:0013137 name: choroidal dystrophy, central areolar 2 def: "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the PRPH2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CACD2" RELATED [MONDO:Lexical, OMIM:613105] +synonym: "central areolar choroidal dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern] synonym: "choroidal dystrophy, central areolar 2" EXACT [MONDO:Lexical, OMIM:613105] synonym: "choroidal dystrophy, central areolar 2; CACD2" RELATED [OMIM:613105] synonym: "choroidal dystrophy, central areolar type 2" EXACT [MONDORULE:1, OMIM:613105] synonym: "macular dystrophy, progressive" RELATED [OMIM:613105] +synonym: "PRPH2 central areolar choroidal dystrophy" EXACT [MONDO:design_pattern] xref: MESH:C567750 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613105 {source="MONDO:equivalentTo"} xref: Orphanet:75377 {source="OMIM:613105", source="MONDO:subClassOf"} @@ -256090,6 +259333,8 @@ property_value: confidence "0.18928571428571428" xsd:double id: MONDO:0013139 name: neutropenia, severe congenital, 2, autosomal dominant def: "Any autosomal dominant severe congenital neutropenia in which the cause of the disease is a mutation in the GFI1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant severe congenital neutropenia caused by mutation in GFI1" EXACT [MONDO:design_pattern] +synonym: "GFI1 autosomal dominant severe congenital neutropenia" EXACT [MONDO:design_pattern] synonym: "neutropenia, severe congenital, 2, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613107] synonym: "neutropenia, severe congenital, 2, autosomal dominant; SCN2" RELATED [OMIM:613107] synonym: "SCN2" RELATED [MONDO:Lexical, OMIM:613107] @@ -256113,6 +259358,8 @@ synonym: "candidiasis, familial chronic mucocutaneous" RELATED [OMIM:613108] synonym: "candidiasis, familial, 4" EXACT [MONDO:Lexical, OMIM:613108] synonym: "candidiasis, familial, 4; CANDF4" RELATED [OMIM:613108] synonym: "candidiasis, familial, type 4" EXACT [MONDORULE:1, OMIM:613108] +synonym: "CLEC7A familial chronic mucocutaneous candidiasis" EXACT [MONDO:design_pattern] +synonym: "familial chronic mucocutaneous candidiasis caused by mutation in CLEC7A" EXACT [MONDO:design_pattern] xref: OMIM:613108 {source="MONDO:equivalentTo"} xref: Orphanet:1334 {source="OMIM:613108", source="MONDO:subClassOf"} xref: SCTID:235073000 {source="MONDO:kboom-pr-0.76/0.38/0.67", source="MONDO:equivalentTo"} @@ -256127,7 +259374,9 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14 id: MONDO:0013141 name: autosomal dominant macrothrombocytopenia TUBB1-related def: "Any autosomal dominant macrothrombocytopenia in which the cause of the disease is a mutation in the TUBB1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant macrothrombocytopenia caused by mutation in TUBB1" EXACT [MONDO:design_pattern] synonym: "macrothrombocytopenia, autosomal dominant, TUBB1-RELATED" RELATED [OMIM:613112] +synonym: "TUBB1 autosomal dominant macrothrombocytopenia" EXACT [MONDO:design_pattern] xref: DOID:0090102 {source="MONDO:equivalentTo"} xref: ICD10:D69.4 {source="DOID:0090102"} xref: MESH:C567747 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -256145,16 +259394,18 @@ property_value: confidence "0.5266117647058828" xsd:double id: MONDO:0013142 name: neuropathy, hereditary sensory and autonomic, type 2B def: "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the RETREG1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "hereditary sensory and autonomic neuropathy type 2 caused by mutation in RETREG1" EXACT [MONDO:design_pattern] synonym: "hereditary sensory and autonomic neuropathy type 2B" RELATED [DOID:0070150] synonym: "hereditary sensory and autonomic neuropathy type IIB" EXACT [DOID:0070150] synonym: "HSAN2B" EXACT [DOID:0070150, MONDO:Lexical, OMIM:613115] synonym: "neuropathy, hereditary sensory and autonomic, type IIB" RELATED [MONDO:Lexical, OMIM:613115] synonym: "neuropathy, hereditary sensory and autonomic, type IIB; HSAN2B" RELATED [OMIM:613115] +synonym: "RETREG1 hereditary sensory and autonomic neuropathy type 2" EXACT [MONDO:design_pattern] xref: DOID:0070150 {source="MONDO:equivalentTo"} xref: OMIM:613115 {source="DOID:0070150", source="MONDO:equivalentTo"} xref: Orphanet:970 {source="OMIM:613115", source="MONDO:subClassOf"} xref: UMLS:C2751092 {source="OMIM:613115", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019941 {source="ORDO:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2 +is_a: MONDO:0019941 {source="DOID:0070150", source="ORDO:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2 intersection_of: MONDO:0019941 ! hereditary sensory and autonomic neuropathy type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25964 ! RETREG1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25964 {source="mim2gene_medgen"} ! RETREG1 @@ -256209,7 +259460,7 @@ xref: OMIM:613118 {source="DOID:3755", source="Orphanet:82", source="ORDO:82/e", xref: Orphanet:82 {source="OMIM:613118", source="MONDO:equivalentTo"} xref: SCTID:36351005 {source="DOID:3755", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0272375 {source="DOID:3755", source="NCBI:mim2gene_medline", source="OMIM:613118", source="NCIT:C98815", source="MONDO:equivalentTo"} -is_a: MONDO:0001531 {source="MESH:D020152/inferred", source="MONDO:Redundant", source="NCIT:C98815", source="linkedlife/inferred"} ! blood coagulation disease +is_a: MONDO:0001531 {source="DOID:3755/inferred", source="MESH:D020152/inferred", source="MONDO:Redundant", source="NCIT:C98815", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! blood coagulation disease is_a: MONDO:0002305 {source="DC-OMIM:613118", source="MESH:D020152", source="OMIM:613118", source="linkedlifedata"} ! thrombophilia is_a: MONDO:0016320 {source="Orphanet:82"} ! rare hereditary thrombophilia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/775 {source="mim2gene_medgen"} ! SERPINC1 @@ -256222,7 +259473,9 @@ def: "Any Brugada syndrome in which the cause of the disease is a mutation in th synonym: "BRGDA6" EXACT [DOID:0110223, MONDO:Lexical, OMIM:613119] synonym: "Brugada syndrome 6" EXACT [MONDO:Lexical, OMIM:613119] synonym: "Brugada syndrome 6; BRGDA6" RELATED [OMIM:613119] +synonym: "Brugada syndrome caused by mutation in KCNE3" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 6" EXACT [DOID:0110223, MONDORULE:1, OMIM:613119] +synonym: "KCNE3 Brugada syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110223 {source="MONDO:equivalentTo"} xref: ICD10:I49.8 {source="DOID:0110223"} xref: MESH:C567735 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -256242,7 +259495,9 @@ synonym: "atrial fibrillation, familial, 16" RELATED [OMIM:613120] synonym: "BRGDA7" EXACT [DOID:0110224, MONDO:Lexical, OMIM:613120] synonym: "Brugada syndrome 7" EXACT [MONDO:Lexical, OMIM:613120] synonym: "Brugada syndrome 7; BRGDA7" RELATED [OMIM:613120] +synonym: "Brugada syndrome caused by mutation in SCN3B" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 7" EXACT [DOID:0110224, MONDORULE:1, OMIM:613120] +synonym: "SCN3B Brugada syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110224 {source="MONDO:equivalentTo"} xref: ICD10:I49.8 {source="DOID:0110224"} xref: MESH:C567734 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -256265,6 +259520,8 @@ synonym: "cardiomyopathy, dilated, 1CC; CMD1CC" RELATED [OMIM:613122] synonym: "cardiomyopathy, dilated, type 1Cc" EXACT [MONDORULE:9, OMIM:613122] synonym: "CMD1CC" EXACT [DOID:0110424, MONDO:Lexical, OMIM:613122] synonym: "dilated cardiomyopathy type 1CC" EXACT [DOID:0110424, MONDORULE:9] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in NEXN" EXACT [MONDO:design_pattern] +synonym: "NEXN familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110424 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110424", source="MONDO:subClassOf"} xref: MESH:C567733 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -256285,7 +259542,9 @@ def: "Any Brugada syndrome in which the cause of the disease is a mutation in th synonym: "BRGDA8" EXACT [DOID:0110225, MONDO:Lexical, OMIM:613123] synonym: "Brugada syndrome 8" EXACT [MONDO:Lexical, OMIM:613123] synonym: "Brugada syndrome 8; BRGDA8" RELATED [OMIM:613123] +synonym: "Brugada syndrome caused by mutation in HCN4" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 8" EXACT [DOID:0110225, MONDORULE:1, OMIM:613123] +synonym: "HCN4 Brugada syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110225 {source="MONDO:equivalentTo"} xref: ICD10:I49.8 {source="DOID:0110225"} xref: MESH:C567732 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -256365,8 +259624,10 @@ name: inflammatory bowel disease 28 def: "Any inflammatory bowel disease in which the cause of the disease is a mutation in the IL10RA gene." [MONDO:patterns/disease_series_by_gene] synonym: "early onset autosomal recessive inflammatory bowel disease 28" EXACT [DOID:0110899] synonym: "IBD28" EXACT [DOID:0110899, MONDO:Lexical, OMIM:613148] +synonym: "IL10RA inflammatory bowel disease" EXACT [MONDO:design_pattern] synonym: "inflammatory bowel disease 28, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613148] synonym: "inflammatory bowel disease 28, autosomal recessive; IBD28" RELATED [OMIM:613148] +synonym: "inflammatory bowel disease caused by mutation in IL10RA" EXACT [MONDO:design_pattern] synonym: "inflammatory bowel disease type 28" EXACT [DOID:0110899, MONDORULE:2] synonym: "inflammatory bowel disease, early-onset, autosomal recessive" RELATED [OMIM:613148] xref: DOID:0110899 {source="MONDO:equivalentTo"} @@ -256374,7 +259635,7 @@ xref: MESH:C567728 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613148 {source="DOID:0110899", source="MONDO:equivalentTo"} xref: Orphanet:238569 {source="OMIM:613148", source="MONDO:subClassOf"} xref: UMLS:C2751053 {source="OMIM:613148", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0005265 {source="MESH:C567728", source="MONDO:Redundant", source="OMIM:613148"} ! inflammatory bowel disease +is_a: MONDO:0005265 {source="DOID:0110899", source="MESH:C567728", source="MONDO:Redundant", source="OMIM:613148"} ! inflammatory bowel disease is_a: MONDO:0016542 {source="ORDO:238569/btnt"} ! immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome intersection_of: MONDO:0005265 ! inflammatory bowel disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5964 ! IL10RA @@ -256507,6 +259768,7 @@ id: MONDO:0013161 name: autosomal recessive limb-girdle muscular dystrophy type 2O def: "Autosomal recessive limb-girdle muscular dystrophy type 2O (LGMD2O) is a form of limb-girdle muscular dystrophy characterized by an onset in childhood or adolescence of rapidly progressive proximal limb muscle weakness (particularly affecting the neck, hip girdle, and shoulder abductors), hypertrophy in the calves and quadriceps, ankle contractures, and myopia." [Orphanet:206564] subset: ordo_disease {source="Orphanet:206564"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMGNT1" EXACT [MONDO:design_pattern] synonym: "LGMD2O" EXACT [DOID:0110292, Orphanet:206564] synonym: "limb-girdle muscular dystrophy type 2O" RELATED [GARD:0012540] synonym: "MDDGC3" EXACT [DOID:0110292, MONDO:Lexical, OMIM:613157] @@ -256516,6 +259778,7 @@ synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3" RELATE synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3; MDDGC3" RELATED [OMIM:613157] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMGNT1-related" EXACT [DOID:0110292] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, POMGNT1-Related" RELATED [OMIM:613157] +synonym: "POMGNT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110292 {source="MONDO:equivalentTo"} xref: GARD:0012540 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G71.0 {source="ORDO:206564/attributed", source="ORDO:206564/ntbt", source="MONDO:subClassOf", source="Orphanet:206564", source="DOID:0110292"} @@ -256537,6 +259800,7 @@ id: MONDO:0013162 name: autosomal recessive limb-girdle muscular dystrophy type 2N def: "Autosomal recessive limb-girdle muscular dystrophy type 2N (LGMD2N) is a form of limb-girdle muscular dystrophy characterized by proximal weakness (manifesting as slowness in running) presenting in infancy, along with calf hypertrophy, mild lordosis, scapular winging and normal intelligence or mild intellectual disability." [Orphanet:206559] subset: ordo_disease {source="Orphanet:206559"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POMT2" EXACT [MONDO:design_pattern] synonym: "LGMD2N" EXACT [DOID:0110298, Orphanet:206559] synonym: "limb-girdle muscular dystrophy type 2N" RELATED [GARD:0012539] synonym: "MDDGC2" EXACT [DOID:0110298, MONDO:Lexical, OMIM:613158] @@ -256546,6 +259810,7 @@ synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2" RELATE synonym: "muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2; MDDGC2" RELATED [OMIM:613158] synonym: "muscular dystrophy-dystroglycanopathy limb-girdle POMT2-related" EXACT [DOID:0110298] synonym: "muscular dystrophy-dystroglycanopathy, limb-girdle, Pomt2-Related" RELATED [OMIM:613158] +synonym: "POMT2 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110298 {source="MONDO:equivalentTo"} xref: GARD:0012539 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G71.0 {source="ORDO:206559/ntbt", source="Orphanet:206559", source="DOID:0110298", source="MONDO:subClassOf", source="ORDO:206559/attributed"} @@ -256608,10 +259873,12 @@ id: MONDO:0013165 name: hereditary spastic paraplegia 45 def: "Autosomal recessive spastic paraplegia type 45 is a rare, pure or complex form of hereditary spastic paraplegia characterized by onset in infancy of progressive lower limb spasticity, abnormal gait, increased deep tendon reflexes and extensor plantar responses, that may be associated with intellectual disability. Additional signs, such as contractures in the lower limbs, amyotrophy, clubfoot and optic atrophy, have also been reported." [Orphanet:320396] subset: ordo_disease {source="Orphanet:320396"} +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in NT5C2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 45" EXACT [DOID:0110797] synonym: "autosomal recessive spastic paraplegia type 45" EXACT [DOID:0110797] synonym: "autosomal recessive spastic paraplegia type 65" EXACT [DOID:0110797, Orphanet:320396] synonym: "hereditary spastic paraplegia type 45" EXACT [DOID:0110797, MONDORULE:2] +synonym: "NT5C2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 45, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613162] synonym: "spastic paraplegia 45, autosomal recessive; SPG45" RELATED [OMIM:613162] synonym: "SPG45" EXACT [DOID:0110797, MONDO:Lexical, OMIM:613162, Orphanet:320396] @@ -256623,7 +259890,7 @@ xref: Orphanet:320396 {source="DOID:0110797", source="OMIM:613162", source="MOND xref: UMLS:C2680447 {source="NCBI:mim2gene_medline", source="OMIM:613162"} xref: UMLS:CN203996 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:320396"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:613162", source="Orphanet:320396/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110797", source="MONDO:Redundant", source="OMIM:613162", source="Orphanet:320396/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8022 ! NT5C2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8022 {source="mim2gene_medgen"} ! NT5C2 @@ -256671,7 +259938,7 @@ synonym: "Parkinson disease 16; PARK16" RELATED [OMIM:613164] xref: MESH:C567726 {source="MONDO:equivalentTo"} xref: OMIM:613164 {source="MONDO:equivalentTo"} xref: UMLS:C2751012 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613164"} -is_a: MONDO:0005180 {source="DC-OMIM:613164", source="OMIM:613164"} ! Parkinson disease +is_a: MONDO:0005180 {source="DC-OMIM:613164", source="MESH:C567726", source="OMIM:613164"} ! Parkinson disease [Term] id: MONDO:0013168 @@ -256682,6 +259949,8 @@ synonym: "cardiomyopathy, dilated, 1DD; CMD1DD" RELATED [OMIM:613172] synonym: "cardiomyopathy, dilated, type 1Dd" EXACT [MONDORULE:9, OMIM:613172] synonym: "CMD1DD" EXACT [DOID:0110447, MONDO:Lexical, OMIM:613172] synonym: "dilated cardiomyopathy type 1DD" EXACT [DOID:0110447, MONDORULE:9] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in RBM20" EXACT [MONDO:design_pattern] +synonym: "RBM20 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110447 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110447", source="MONDO:subClassOf"} xref: MESH:C567725 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -256736,7 +260005,7 @@ xref: OMIM:613177 {source="ORDO:221145/e", source="Orphanet:221145", source="MON xref: Orphanet:221145 {source="OMIM:613177", source="MONDO:equivalentTo", source="DOID:0070139"} xref: UMLS:C2750804 {source="NCBI:mim2gene_medline", source="Orphanet:221145", source="OMIM:613177", source="MONDO:equivalentTo", source="DOID:0070139", source="MEDGEN:kboom-pr92-c96"} xref: url:https\://www.ncbi.nlm.nih.gov/pubmed/19836010 {source="DOID:0070139"} -is_a: MONDO:0016175 {source="DC-OMIM:613177", source="MESH:C567716", source="OMIM:613177", source="Orphanet:221145"} ! cutis laxa +is_a: MONDO:0016175 {source="DC-OMIM:613177", source="DOID:0070139/inferred", source="MESH:C567716", source="OMIM:613177", source="Orphanet:221145"} ! cutis laxa intersection_of: MONDO:0016175 ! cutis laxa intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6717 ! LTBP4 intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance @@ -256801,10 +260070,12 @@ property_value: confidence "8.375" xsd:double id: MONDO:0013173 name: intellectual disability, autosomal recessive 13 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TRAPPC9 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TRAPPC9" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 13" RELATED [MONDO:Lexical, OMIM:613192] synonym: "mental retardation, autosomal recessive 13; MRT13" RELATED [OMIM:613192] synonym: "mental retardation, autosomal recessive type 13" EXACT [MONDORULE:2, OMIM:613192] synonym: "MRT13" RELATED [MONDO:Lexical, OMIM:613192] +synonym: "TRAPPC9 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] xref: MESH:C567714 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613192 {source="MONDO:equivalentTo"} xref: UMLS:C2750791 {source="NCBI:mim2gene_medline", source="OMIM:613192", source="MONDO:equivalentTo"} @@ -256823,7 +260094,9 @@ synonym: "ciliary dyskinesia, primary, 13" RELATED [MONDO:Lexical, OMIM:613193] synonym: "ciliary dyskinesia, primary, 13, with or without situs inversus" RELATED [OMIM:613193] synonym: "ciliary dyskinesia, primary, 13; CILD13" RELATED [OMIM:613193] synonym: "ciliary dyskinesia, primary, type 13" EXACT [MONDORULE:2, OMIM:613193] +synonym: "DNAAF1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 13 with or without situs inversus" EXACT [DOID:0110618] +synonym: "primary ciliary dyskinesia caused by mutation in DNAAF1" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 13" EXACT [DOID:0110618, MONDORULE:2] xref: DOID:0110618 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110618"} @@ -256840,8 +260113,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30 id: MONDO:0013175 name: retinitis pigmentosa 50 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BEST1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BEST1 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 50" EXACT [MONDO:Lexical, OMIM:613194] synonym: "retinitis pigmentosa 50; RP50" RELATED [OMIM:613194] +synonym: "retinitis pigmentosa caused by mutation in BEST1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 50" EXACT [DOID:0110396, MONDORULE:2, OMIM:613194] synonym: "retinitis pigmentosa, concentric" RELATED [OMIM:613194] synonym: "RP50" EXACT [DOID:0110396, MONDO:Lexical, OMIM:613194] @@ -256881,9 +260156,11 @@ id: MONDO:0013177 name: congenital muscular dystrophy due to integrin alpha-7 deficiency def: "Congenital muscular dystrophy with integrin alpha-7 deficiency is a rare, genetic, congenital muscular dystrophy due to extracellular matrix protein anomaly characterized by early motor development delay and muscle weakness with mild elevation of serum creatine kinase, that may be followed by progressive disease course with predominantly proximal muscle weakness and atrophy, motor development regress, scoliosis and respiratory insufficiency." [Orphanet:34520] subset: ordo_disease {source="Orphanet:34520"} +synonym: "congenital muscular dystrophy caused by mutation in ITGA7" EXACT [MONDO:design_pattern] synonym: "congenital muscular dystrophy with integrin alpha-7 deficiency" EXACT [DOID:0110639] synonym: "congenital muscular dystrophy with ITGA7 deficiency" EXACT [DOID:0110639, Orphanet:34520] synonym: "congenital myopathy due to integrin alpha-7 deficiency" EXACT [DOID:0110639] +synonym: "ITGA7 congenital muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "muscular dystrophy, congenital, due to integrin ALPHA-7 deficiency" RELATED [OMIM:613204] synonym: "muscular dystrophy, congenital, due to ITGA7 deficiency" RELATED [GARD:0012587] synonym: "Myopathy, congenital, due to integrin Alpha-7 deficiency" RELATED [OMIM:613204] @@ -256907,8 +260184,10 @@ name: congenital muscular dystrophy due to LMNA mutation def: "Congenital muscular dystrophy due to LMNA mutation is a rare congenital muscular dystrophy characterized by prominent axial hypotonia, dropped head syndrome, predominantly proximal muscle weakness in upper limbs/distal in lower limbs (with absent, poor or lost motor development), joint contractures (initially distal, later proximal), spine rigidity, and early respiratory insufficiency, in the presence of moderately elevated serum creatine kinase. Cardiac arrhythmias and sudden death have been also reported." [Orphanet:157973] subset: gard_rare {source="GARD:0012585"} subset: ordo_disease {source="Orphanet:157973"} +synonym: "congenital muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern] synonym: "congenital muscular dystrophy LMNA-related" EXACT [DOID:0110640] synonym: "L-CMD" EXACT [DOID:0110640, Orphanet:157973] +synonym: "LMNA congenital muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "LMNA-related congenital muscular dystrophy" EXACT [DOID:0110640, Orphanet:157973] synonym: "Mdcl" RELATED [OMIM:613205] synonym: "muscular dystrophy, congenital, LMNA-RELATED" RELATED [GARD:0012585, OMIM:613205] @@ -256932,8 +260211,10 @@ id: MONDO:0013179 name: hereditary spastic paraplegia 44 def: "gene (1q41-q42) encoding the gap junction gamma-2 protein." [Orphanet:320401] subset: ordo_disease {source="Orphanet:320401"} +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in GJC2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 44" EXACT [DOID:0110796] synonym: "autosomal recessive spastic paraplegia type 44" RELATED [Orphanet:320401] +synonym: "GJC2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 44" EXACT [DOID:0110796, MONDORULE:2] synonym: "spastic paraplegia 44, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613206] synonym: "spastic paraplegia 44, autosomal recessive; SPG44" RELATED [OMIM:613206] @@ -256945,7 +260226,7 @@ xref: OMIM:613206 {source="ORDO:320401/e", source="DOID:0110796", source="Orphan xref: Orphanet:320401 {source="OMIM:613206", source="DOID:0110796", source="MONDO:equivalentTo"} xref: UMLS:C2750784 {source="NCBI:mim2gene_medline", source="OMIM:613206", source="ORDO:320401/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:320401", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:320401"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:613206", source="Orphanet:320401/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110796", source="MESH:C567707", source="MONDO:Redundant", source="OMIM:613206", source="Orphanet:320401/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17494 ! GJC2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17494 {source="mim2gene_medgen"} ! GJC2 @@ -256968,10 +260249,12 @@ id: MONDO:0013181 name: amelogenesis imperfecta hypomaturation type 2A3 def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the WDR72 gene." [MONDO:patterns/disease_series_by_gene] synonym: "AI2A3" EXACT [DOID:0110061, MONDO:Lexical, OMIM:613211] +synonym: "amelogenesis imperfecta caused by mutation in WDR72" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation type IIA3" EXACT [DOID:0110061] synonym: "amelogenesis imperfecta type IIA3" EXACT [DOID:0110061] synonym: "amelogenesis imperfecta, hypomaturation type, IIA3" RELATED [MONDO:Lexical, OMIM:613211] synonym: "amelogenesis imperfecta, hypomaturation type, IIA3; AI2A3" RELATED [OMIM:613211] +synonym: "WDR72 amelogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110061 {source="MONDO:equivalentTo"} xref: ICD10:K00.5 {source="DOID:0110061"} xref: MESH:C567706 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -256980,7 +260263,7 @@ xref: Orphanet:100033 {source="OMIM:613211", source="MONDO:subClassOf"} xref: UMLS:C2750771 {source="OMIM:613211", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0015048 {source="MONDOLEX:0013181", source="ORDO:100033/btnt"} ! hypomaturation amelogenesis imperfecta -is_a: MONDO:0019507 {source="MESH:C567706", source="MONDO:Redundant", source="OMIM:613211"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="DOID:0110061", source="MESH:C567706", source="MONDO:Redundant", source="OMIM:613211"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26790 ! WDR72 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26790 {source="mim2gene_medgen"} ! WDR72 @@ -257018,11 +260301,13 @@ id: MONDO:0013183 name: congenital stationary night blindness 1C def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the TRPM1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "congenital stationary night blindness 1C autosomal recessive" EXACT [DOID:0110867] +synonym: "congenital stationary night blindness caused by mutation in TRPM1" EXACT [MONDO:design_pattern] synonym: "congenital stationary night blindness type 1C" EXACT [DOID:0110867, MONDORULE:4] synonym: "CSNB, complete, autosomal recessive" RELATED [OMIM:613216] synonym: "CSNB1C" EXACT [DOID:0110867, MONDO:Lexical, OMIM:613216] synonym: "night blindness, congenital stationary, type 1C" RELATED [MONDO:Lexical, OMIM:613216] synonym: "night blindness, congenital stationary, type 1C; CSNB1C" RELATED [OMIM:613216] +synonym: "TRPM1 congenital stationary night blindness" EXACT [MONDO:design_pattern] xref: DOID:0110867 {source="MONDO:equivalentTo"} xref: MESH:C567704 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613216 {source="DOID:0110867", source="MONDO:equivalentTo"} @@ -257045,9 +260330,11 @@ synonym: "DIAR5" EXACT [DOID:0060776, MONDO:Lexical, OMIM:613217] synonym: "diarrhea 5, with tufting enteropathy, congenital" RELATED [MONDO:Lexical, OMIM:613217] synonym: "diarrhea 5, with tufting enteropathy, congenital; DIAR5" RELATED [OMIM:613217] synonym: "enteropathy, congenital tufting" RELATED [OMIM:613217] +synonym: "EPCAM secretory diarrhea" EXACT [MONDO:design_pattern] synonym: "IED" EXACT [Orphanet:92050] synonym: "intestinal epithelial cell dysplasia" RELATED [OMIM:613217] synonym: "intestinal epithelial dysplasia" EXACT [Orphanet:92050] +synonym: "secretory diarrhea caused by mutation in EPCAM" EXACT [MONDO:design_pattern] synonym: "tufting enteropathy" EXACT [DOID:0060776] xref: DOID:0060776 {source="MONDO:equivalentTo"} xref: GARD:0010630 {source="Orphanet-shared", source="MONDO:equivalentTo"} @@ -257061,6 +260348,8 @@ xref: UMLS:C4275062 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo" is_a: MONDO:0000824 {source="DC-OMIM:613217", source="DOID:0060776", source="MONDOLEX:0013184", source="OMIM:613217"} ! congenital diarrhea is_a: MONDO:0015182 {source="Orphanet:92050"} ! congenital enteropathy involving intestinal mucosa development is_a: MONDO:0019126 {source="Orphanet:92050"} ! intractable diarrhea of infancy +intersection_of: MONDO:0000249 {source="mim2gene_medgen"} ! secretory diarrhea +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11529 {source="mim2gene_medgen"} ! EPCAM relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11529 {source="mim2gene_medgen"} ! EPCAM property_value: confidence "14.384615384615387" xsd:double @@ -257068,12 +260357,14 @@ property_value: confidence "14.384615384615387" xsd:double id: MONDO:0013185 name: leprosy, susceptibility to, 5 def: "Any leprosy in which the cause of the disease is a mutation in the TLR1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "leprosy caused by mutation in TLR1" EXACT [MONDO:design_pattern] synonym: "leprosy, protection against" RELATED [OMIM:613223] synonym: "leprosy, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:613223] synonym: "leprosy, susceptibility to, 5; LPRS5" RELATED [OMIM:613223] synonym: "leprosy, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:613223] synonym: "LPRS5" RELATED [MONDO:Lexical, OMIM:613223] synonym: "susceptibility to leprosy 5" RELATED [OMIM:613223] +synonym: "TLR1 leprosy" EXACT [MONDO:design_pattern] xref: OMIM:613223 {source="MONDO:equivalentTo"} xref: Orphanet:548 {source="OMIM:613223", source="MONDO:subClassOf"} xref: UMLS:C2750733 {source="NCBI:mim2gene_medline", source="OMIM:613223"} @@ -257091,8 +260382,10 @@ def: "Noonan syndrome is a genetic disorder that causes abnormal development of subset: gard_rare {source="GARD:0010701"} synonym: "Noonan syndrome 6" EXACT [MONDO:Lexical, OMIM:613224] synonym: "Noonan syndrome 6; NS6" RELATED [OMIM:613224] +synonym: "Noonan syndrome caused by mutation in NRAS" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome type 6" EXACT [DOID:0060584, MONDORULE:1, OMIM:613224] synonym: "NRAS gene related Noonan syndrome" RELATED [GARD:0010701] +synonym: "NRAS Noonan syndrome" EXACT [MONDO:design_pattern] synonym: "NS6" EXACT [DOID:0060584, MONDO:Lexical, OMIM:613224] xref: DOID:0060584 {source="MONDO:equivalentTo"} xref: GARD:0010701 {source="MONDO:equivalentTo"} @@ -257120,7 +260413,7 @@ xref: Orphanet:331 {source="OMIM:613225", source="MONDO:subClassOf"} xref: SCTID:439455002 {source="MONDO:equivalentTo"} xref: UMLS:C2584877 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} xref: UMLS:C2750514 {source="OMIM:613225", source="NCBI:mim2gene_medline"} -is_a: MONDO:0018029 {source="MESH:C567691", source="ORDO:331/btnt", source="linkedlife"} ! congenital factor XIII deficiency +is_a: MONDO:0018029 {source="MESH:C567691", source="ORDO:331/btnt", source="linkedlifedata"} ! congenital factor XIII deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3531 {source="mim2gene_medgen"} ! F13A1 property_value: confidence "29.33333333333344" xsd:double @@ -257128,11 +260421,13 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0013188 name: cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3 def: "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the CA8 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CA8 dysequilibrium syndrome" EXACT [MONDO:design_pattern] synonym: "CAMRQ3" RELATED [MONDO:Lexical, OMIM:613227] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3" RELATED [OMIM:613227] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3" EXACT [MONDO:Lexical, OMIM:613227] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 3; CAMRQ3" RELATED [OMIM:613227] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 3" EXACT [MONDORULE:1, OMIM:613227] +synonym: "dysequilibrium syndrome caused by mutation in CA8" EXACT [MONDO:design_pattern] xref: MESH:C567690 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613227 {source="MONDO:equivalentTo"} xref: Orphanet:1766 {source="OMIM:613227", source="MONDO:subClassOf"} @@ -257182,9 +260477,11 @@ name: focal segmental glomerulosclerosis 5 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the INF2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "focal segmental glomerulosclerosis 5" EXACT [MONDO:Lexical, OMIM:613237] synonym: "focal segmental glomerulosclerosis 5; FSGS5" RELATED [OMIM:613237] +synonym: "focal segmental glomerulosclerosis caused by mutation in INF2" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis type 5" EXACT [DOID:0111130, MONDORULE:1, OMIM:613237] synonym: "FSGS5" EXACT [DOID:0111130, MONDO:Lexical, OMIM:613237] synonym: "glomerulosclerosis, focal segmental, 5" RELATED [OMIM:613237] +synonym: "INF2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern] xref: DOID:0111130 {source="MONDO:equivalentTo"} xref: ICD10:N04.1 {source="DOID:0111130"} xref: MESH:C567687 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -257210,6 +260507,8 @@ is_a: MONDO:0024512 {source="MONDOLEX:0013192", source="OMIM:613238"} ! spondylo id: MONDO:0013193 name: thyrotoxic periodic paralysis, susceptibility to, 2 def: "Any thyrotoxic periodic paralysis in which the cause of the disease is a mutation in the KCNJ18 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KCNJ18 thyrotoxic periodic paralysis" EXACT [MONDO:design_pattern] +synonym: "thyrotoxic periodic paralysis caused by mutation in KCNJ18" EXACT [MONDO:design_pattern] synonym: "thyrotoxic periodic paralysis, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:613239] synonym: "thyrotoxic periodic paralysis, susceptibility to, 2; TTPP2" RELATED [OMIM:613239] synonym: "thyrotoxic periodic paralysis, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613239] @@ -257217,7 +260516,7 @@ synonym: "TTPP2" RELATED [MONDO:Lexical, OMIM:613239] xref: OMIM:613239 {source="MONDO:equivalentTo"} xref: Orphanet:79102 {source="OMIM:613239", source="MONDO:subClassOf"} xref: UMLS:C2750473 {source="NCBI:mim2gene_medline", source="OMIM:613239"} -is_a: MONDO:0019201 {source="DC-OMIM:613239"} ! thyrotoxic periodic paralysis +is_a: MONDO:0019201 {source="DC-OMIM:613239", source="OMIM:613239"} ! thyrotoxic periodic paralysis intersection_of: MONDO:0019201 ! thyrotoxic periodic paralysis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/39080 ! KCNJ18 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/39080 {source="mim2gene_medgen"} ! KCNJ18 @@ -257240,14 +260539,16 @@ synonym: "cardiomyopathy, familial hypertrophic, 13" RELATED [MONDO:Lexical, OMI synonym: "cardiomyopathy, familial hypertrophic, 13; CMH13" RELATED [OMIM:613243] synonym: "cardiomyopathy, familial hypertrophic, type 13" EXACT [MONDORULE:2, OMIM:613243] synonym: "CMH13" EXACT [DOID:0110319, MONDO:Lexical, OMIM:613243] +synonym: "hypertrophic cardiomyopathy caused by mutation in TNNC1" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 13" EXACT [DOID:0110319, MONDORULE:2] +synonym: "TNNC1 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110319 {source="MONDO:equivalentTo"} xref: MESH:C567686 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613243 {source="DOID:0110319", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:613243"} xref: UMLS:C2750472 {source="NCBI:mim2gene_medline", source="OMIM:613243", source="MONDO:equivalentTo"} is_a: MONDO:0005045 {source="DC-OMIM:613243", source="DOID:0110319", source="MESH:C567686/inferred", source="MONDO:Redundant", source="OMIM:613243"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDOLEX:0013195", source="OMIM", source="OMIM:613243"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="MESH:C567686", source="MONDOLEX:0013195", source="OMIM", source="OMIM:613243"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11943 ! TNNC1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11943 {source="mim2gene_medgen"} ! TNNC1 @@ -257258,6 +260559,8 @@ name: colorectal cancer, hereditary nonpolyposis, type 8 def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the EPCAM gene." [MONDO:patterns/disease_series_by_gene] synonym: "colorectal cancer, hereditary nonpolyposis, type 8" EXACT [MONDO:Lexical, OMIM:613244] synonym: "colorectal cancer, hereditary nonpolyposis, type 8; HNPCC8" RELATED [OMIM:613244] +synonym: "EPCAM hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern] +synonym: "hereditary nonpolyposis colon cancer caused by mutation in EPCAM" EXACT [MONDO:design_pattern] synonym: "HNPCC8" RELATED [MONDO:Lexical, OMIM:613244] xref: MESH:C567685 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613244 {source="MONDO:equivalentTo"} @@ -257279,14 +260582,16 @@ synonym: "cardiomyopathy, familial hypertrophic, 14" RELATED [MONDO:Lexical, OMI synonym: "cardiomyopathy, familial hypertrophic, 14; CMH14" RELATED [OMIM:613251] synonym: "cardiomyopathy, familial hypertrophic, type 14" EXACT [MONDORULE:2, OMIM:613251] synonym: "CMH14" EXACT [DOID:0110320, MONDO:Lexical, OMIM:613251] +synonym: "hypertrophic cardiomyopathy caused by mutation in MYH6" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 14" EXACT [DOID:0110320, MONDORULE:2] +synonym: "MYH6 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110320 {source="MONDO:equivalentTo"} xref: MESH:C567684 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613251 {source="DOID:0110320", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:613251"} xref: UMLS:C2750467 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613251"} is_a: MONDO:0005045 {source="DC-OMIM:613251", source="DOID:0110320", source="MESH:C567684/inferred", source="MONDO:Redundant", source="OMIM:613251"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDOLEX:0013197", source="OMIM", source="OMIM:613251"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="MESH:C567684", source="MONDOLEX:0013197", source="OMIM", source="OMIM:613251"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7576 ! MYH6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7576 {source="mim2gene_medgen"} ! MYH6 @@ -257301,6 +260606,8 @@ synonym: "cardiomyopathy, dilated, 1EE; CMD1EE" RELATED [OMIM:613252] synonym: "cardiomyopathy, dilated, type 1Ee" EXACT [MONDORULE:9, OMIM:613252] synonym: "CMD1EE" EXACT [DOID:0110453, MONDO:Lexical, OMIM:613252] synonym: "dilated cardiomyopathy type 1EE" EXACT [DOID:0110453, MONDORULE:9] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in MYH6" EXACT [MONDO:design_pattern] +synonym: "MYH6 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110453 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110453", source="MONDO:subClassOf"} xref: MESH:C567683 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -257347,14 +260654,16 @@ synonym: "cardiomyopathy, familial hypertrophic, 15" RELATED [MONDO:Lexical, OMI synonym: "cardiomyopathy, familial hypertrophic, 15; CMH15" RELATED [OMIM:613255] synonym: "cardiomyopathy, familial hypertrophic, type 15" EXACT [MONDORULE:2, OMIM:613255] synonym: "CMH15" EXACT [DOID:0110321, MONDO:Lexical, OMIM:613255] +synonym: "hypertrophic cardiomyopathy caused by mutation in VCL" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 15" EXACT [DOID:0110321, MONDORULE:2] +synonym: "VCL hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110321 {source="MONDO:equivalentTo"} xref: MESH:C567681 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613255 {source="DOID:0110321", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:613255"} xref: UMLS:C2750459 {source="OMIM:613255", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005045 {source="DC-OMIM:613255", source="DOID:0110321", source="MESH:C567681/inferred", source="MONDO:Redundant", source="OMIM:613255"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDOLEX:0013200", source="OMIM", source="OMIM:613255"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="MESH:C567681", source="MONDOLEX:0013200", source="OMIM", source="OMIM:613255"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12665 ! VCL relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12665 {source="mim2gene_medgen"} ! VCL @@ -257364,6 +260673,8 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0013201 name: Waardenburg syndrome type 4B def: "A subtype of Waardenburg syndrome type 4 (Waardenburg-Shah syndrome) caused by mutations in EDN3." [https://rarediseases.info.nih.gov/diseases/5524/waardenburg-syndrome-type-4] +synonym: "EDN3 Waardenburg syndrome" EXACT [MONDO:design_pattern] +synonym: "Waardenburg syndrome caused by mutation in EDN3" EXACT [MONDO:design_pattern] synonym: "Waardenburg syndrome type IVB" EXACT [DOID:0110954] synonym: "Waardenburg syndrome with Hirschsprung disease type 4B" EXACT [DOID:0110954] synonym: "Waardenburg syndrome, type 4B" RELATED [MONDO:Lexical, OMIM:613265] @@ -257412,6 +260723,8 @@ synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613267 synonym: "corneal dystrophy, Fuchs endothelial, type 3" EXACT [MONDORULE:1, OMIM:613267] synonym: "Fcd2 locus" RELATED [OMIM:613267] synonym: "FECD3" RELATED [MONDO:Lexical, OMIM:613267] +synonym: "Fuchs' endothelial dystrophy caused by mutation in TCF4" EXACT [MONDO:design_pattern] +synonym: "TCF4 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern] xref: OMIM:613267 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="OMIM:613267", source="MONDO:subClassOf"} xref: UMLS:C2750451 {source="NCBI:mim2gene_medline", source="OMIM:613267", source="MONDO:equivalentTo"} @@ -257430,6 +260743,8 @@ synonym: "corneal dystrophy, Fuchs endothelial, 4; FECD4" RELATED [OMIM:613268] synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613268] synonym: "corneal dystrophy, Fuchs endothelial, type 4" EXACT [MONDORULE:1, OMIM:613268] synonym: "FECD4" RELATED [MONDO:Lexical, OMIM:613268] +synonym: "Fuchs' endothelial dystrophy caused by mutation in SLC4A11" EXACT [MONDO:design_pattern] +synonym: "SLC4A11 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern] xref: OMIM:613268 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="OMIM:613268", source="MONDO:subClassOf"} xref: UMLS:C2750450 {source="OMIM:613268", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -257462,6 +260777,8 @@ synonym: "corneal dystrophy, Fuchs endothelial, 6; FECD6" RELATED [OMIM:613270] synonym: "corneal dystrophy, Fuchs endothelial, late-onset" RELATED [OMIM:613270] synonym: "corneal dystrophy, Fuchs endothelial, type 6" EXACT [MONDORULE:1, OMIM:613270] synonym: "FECD6" RELATED [MONDO:Lexical, OMIM:613270] +synonym: "Fuchs' endothelial dystrophy caused by mutation in ZEB1" EXACT [MONDO:design_pattern] +synonym: "ZEB1 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern] xref: OMIM:613270 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="MONDO:subClassOf", source="OMIM:613270"} xref: UMLS:C2750448 {source="NCBI:mim2gene_medline", source="OMIM:613270", source="MONDO:equivalentTo"} @@ -257548,11 +260865,13 @@ name: autosomal recessive nonsyndromic deafness 25 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR1 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "autosomal recessive deafness 25" EXACT [DOID:0110483] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 25" EXACT [DOID:0110483, MONDORULE:2] synonym: "deafness, autosomal recessive 25" RELATED [MONDO:Lexical, OMIM:613285] synonym: "deafness, autosomal recessive 25; DFNB25" RELATED [OMIM:613285] synonym: "deafness, autosomal recessive type 25" EXACT [MONDORULE:2, OMIM:613285] synonym: "DFNB25" EXACT [DOID:0110483, MONDO:Lexical, OMIM:613285] +synonym: "GRXCR1 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110483 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110483"} xref: OMIM:613285 {source="DOID:0110483", source="MONDO:equivalentTo"} @@ -257588,8 +260907,10 @@ id: MONDO:0013212 name: Charcot-Marie-tooth disease axonal type 2N def: "Autosomal dominant Charcot-Marie-Tooth disease type 2N (CMT2N) is a mild form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal legs sensory loss and weakness that can be asymmetric. Tendon reflexes are reduced in the knees and absent in ankles. Progression is slow." [Orphanet:228174] subset: ordo_disease {source="Orphanet:228174"} +synonym: "AARS Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2N" EXACT [DOID:0110177] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2N" EXACT [DOID:0110177] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in AARS" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2N" RELATED [GARD:0012429] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2N" RELATED [OMIM:613287] synonym: "Charcot-Marie-Tooth disease, axonal, type 2N" RELATED [MONDO:Lexical, OMIM:613287] @@ -257606,7 +260927,7 @@ xref: Orphanet:228174 {source="DOID:0110177", source="OMIM:613287", source="MOND xref: SCTID:719515001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C2750090 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="Orphanet:228174", source="OMIM:613287", source="MONDO:equivalentTo"} xref: UMLS:C4304671 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MESH:C567653", source="MONDO:Redundant", source="OMIM:613287", source="Orphanet:228174/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110177/inferred", source="MESH:C567653", source="MONDO:Redundant", source="OMIM:613287", source="Orphanet:228174/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110177", source="Orphanet:228174"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 ! AARS @@ -257643,11 +260964,13 @@ name: autosomal recessive nonsyndromic deafness 79 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TPRN gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "autosomal recessive deafness 79" EXACT [DOID:0110526] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TPRN" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 79" EXACT [DOID:0110526, MONDORULE:2] synonym: "deafness, autosomal recessive 79" RELATED [MONDO:Lexical, OMIM:613307] synonym: "deafness, autosomal recessive 79; DFNB79" RELATED [OMIM:613307] synonym: "deafness, autosomal recessive type 79" EXACT [MONDORULE:2, OMIM:613307] synonym: "DFNB79" EXACT [DOID:0110526, MONDO:Lexical, OMIM:613307] +synonym: "TPRN autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110526 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110526"} xref: MESH:C567651 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -257665,7 +260988,9 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio synonym: "DBA9" RELATED [MONDO:Lexical, OMIM:613308] synonym: "Diamond-Blackfan anemia 9" EXACT [MONDO:Lexical, OMIM:613308] synonym: "DIAMOND-Blackfan ANEMIA 9; DBA9" RELATED [OMIM:613308] +synonym: "Diamond-Blackfan anemia caused by mutation in RPS10" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 9" EXACT [MONDORULE:1, OMIM:613308] +synonym: "RPS10 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: MESH:C567650 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613308 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="MONDO:subClassOf", source="OMIM:613308"} @@ -257682,7 +261007,9 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio synonym: "DBA10" RELATED [MONDO:Lexical, OMIM:613309] synonym: "Diamond-Blackfan anemia 10" EXACT [MONDO:Lexical, OMIM:613309] synonym: "DIAMOND-Blackfan ANEMIA 10; DBA10" RELATED [OMIM:613309] +synonym: "Diamond-Blackfan anemia caused by mutation in RPS26" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 10" EXACT [MONDORULE:2, OMIM:613309] +synonym: "RPS26 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: MESH:C567649 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613309 {source="MONDO:equivalentTo"} xref: UMLS:C2750080 {source="NCBI:mim2gene_medline", source="OMIM:613309", source="MONDO:equivalentTo"} @@ -257698,7 +261025,9 @@ def: "Any exudative vitreoretinopathy in which the cause of the disease is a mut synonym: "EVR5" RELATED [MONDO:Lexical, OMIM:613310] synonym: "exudative vitreoretinopathy 5" EXACT [MONDO:Lexical, OMIM:613310] synonym: "exudative vitreoretinopathy 5; EVR5" RELATED [OMIM:613310] +synonym: "exudative vitreoretinopathy caused by mutation in TSPAN12" EXACT [MONDO:design_pattern] synonym: "exudative vitreoretinopathy type 5" EXACT [MONDORULE:1, OMIM:613310] +synonym: "TSPAN12 exudative vitreoretinopathy" EXACT [MONDO:design_pattern] xref: MESH:C567648 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613310 {source="MONDO:equivalentTo"} xref: Orphanet:891 {source="OMIM:613310", source="MONDO:subClassOf"} @@ -257714,6 +261043,8 @@ id: MONDO:0013219 name: hypophosphatemic rickets, autosomal recessive, 2 def: "Any autosomal recessive hypophosphatemic rickets in which the cause of the disease is a mutation in the ENPP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ARHR2" RELATED [MONDO:Lexical, OMIM:613312] +synonym: "autosomal recessive hypophosphatemic rickets caused by mutation in ENPP1" EXACT [MONDO:design_pattern] +synonym: "ENPP1 autosomal recessive hypophosphatemic rickets" EXACT [MONDO:design_pattern] synonym: "hypophosphatemic rickets, autosomal recessive, 2" EXACT [MONDO:Lexical, OMIM:613312] synonym: "hypophosphatemic rickets, autosomal recessive, 2; ARHR2" RELATED [OMIM:613312] synonym: "hypophosphatemic rickets, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:613312] @@ -257732,6 +261063,8 @@ property_value: confidence "0.9259259259259263" xsd:double id: MONDO:0013220 name: hemochromatosis type 2B def: "Any hemochromatosis type 2 in which the cause of the disease is a mutation in the HAMP gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HAMP hemochromatosis type 2" EXACT [MONDO:design_pattern] +synonym: "hemochromatosis type 2 caused by mutation in HAMP" EXACT [MONDO:design_pattern] synonym: "hemochromatosis, type 2B" RELATED [MONDO:Lexical, OMIM:613313] synonym: "hemochromatosis, type 2B; HFE2B" RELATED [OMIM:613313] synonym: "HFE2B" EXACT [DOID:0111032, MONDO:Lexical, OMIM:613313] @@ -257740,7 +261073,7 @@ xref: MESH:C566557 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613313 {source="DOID:0111032", source="MONDO:equivalentTo"} xref: Orphanet:79230 {source="OMIM:613313", source="MONDO:subClassOf"} xref: UMLS:C1865616 {source="OMIM:613313", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0006507 {source="MESH:C566557", source="MONDO:Redundant", source="OMIM:613313"} ! hereditary hemochromatosis +is_a: MONDO:0006507 {source="DOID:0111032/inferred", source="MESH:C566557", source="MONDO:Redundant", source="OMIM:613313"} ! hereditary hemochromatosis is_a: MONDO:0019257 {source="DOID:0111032", source="MONDO:Entailed", source="MONDOLEX:0013220"} ! hemochromatosis type 2 intersection_of: MONDO:0019257 ! hemochromatosis type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15598 ! HAMP @@ -257803,10 +261136,12 @@ property_value: confidence "8.6" xsd:double id: MONDO:0013224 name: rhabdoid tumor predisposition syndrome 2 def: "Any familial rhabdoid tumor in which the cause of the disease is a mutation in the SMARCA4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial rhabdoid tumor caused by mutation in SMARCA4" EXACT [MONDO:design_pattern] synonym: "rhabdoid tumor predisposition syndrome 2" EXACT [MONDO:Lexical, OMIM:613325] synonym: "rhabdoid tumor predisposition syndrome 2; RTPS2" RELATED [OMIM:613325] synonym: "rhabdoid tumor predisposition syndrome type 2" EXACT [MONDORULE:1, OMIM:613325] synonym: "RTPS2" RELATED [MONDO:Lexical, OMIM:613325] +synonym: "SMARCA4 familial rhabdoid tumor" EXACT [MONDO:design_pattern] xref: MESH:C567643 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613325 {source="MONDO:equivalentTo"} xref: Orphanet:231108 {source="OMIM:613325", source="MONDO:subClassOf"} @@ -257888,7 +261223,7 @@ xref: OMIM:613329 {source="Orphanet:465", source="ORDO:465/e", source="MONDO:equ xref: Orphanet:465 {source="OMIM:613329", source="MONDO:equivalentTo"} xref: SCTID:717407006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.73"} xref: UMLS:C2750067 {source="NCIT:C133884", source="Orphanet:465", source="NCBI:mim2gene_medline", source="OMIM:613329"} -is_a: MONDO:0001531 {source="MONDO:Redundant", source="NCIT:C133884", source="linkedlife/inferred"} ! blood coagulation disease +is_a: MONDO:0001531 {source="MONDO:Redundant", source="NCIT:C133884", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! blood coagulation disease is_a: MONDO:0019039 {source="Orphanet:465"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8583 {source="mim2gene_medgen"} ! SERPINE1 property_value: confidence "3.533333333333334" xsd:double @@ -257951,7 +261286,9 @@ subset: gard_rare {source="GARD:0010883"} synonym: "LCA14" EXACT [DOID:0110188, MONDO:Lexical, OMIM:613341] synonym: "Leber congenital amaurosis 14" EXACT [MONDO:Lexical, OMIM:613341] synonym: "Leber congenital amaurosis 14; LCA14" RELATED [OMIM:613341] +synonym: "Leber congenital amaurosis caused by mutation in LRAT" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 14" EXACT [DOID:0110188, MONDORULE:2, OMIM:613341] +synonym: "LRAT Leber congenital amaurosis" EXACT [MONDO:design_pattern] synonym: "retinal dystrophy, early-onset Severe, LRAT-Related" RELATED [OMIM:613341] synonym: "retinitis pigmentosa, juvenile, LRAT-Related" RELATED [OMIM:613341] xref: DOID:0110188 {source="MONDO:equivalentTo"} @@ -258024,6 +261361,8 @@ property_value: confidence "0.47058823529411753" xsd:double id: MONDO:0013235 name: pancreatic cancer, susceptibility to, 2 def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BRCA2 familial pancreatic carcinoma" EXACT [MONDO:design_pattern] +synonym: "familial pancreatic carcinoma caused by mutation in BRCA2" EXACT [MONDO:design_pattern] synonym: "pancreatic cancer, susceptibility to, 2" EXACT [OMIM:613347] synonym: "pancreatic cancer, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:613347] synonym: "Pnca2" RELATED [OMIM:613347] @@ -258041,6 +261380,8 @@ property_value: confidence "2.423076923076922" xsd:double id: MONDO:0013236 name: pancreatic cancer, susceptibility to, 3 def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the PALB2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial pancreatic carcinoma caused by mutation in PALB2" EXACT [MONDO:design_pattern] +synonym: "PALB2 familial pancreatic carcinoma" EXACT [MONDO:design_pattern] synonym: "pancreatic cancer, susceptibility to, 3" EXACT [OMIM:613348] synonym: "pancreatic cancer, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613348] synonym: "Pnca3" RELATED [OMIM:613348] @@ -258108,7 +261449,7 @@ xref: Orphanet:320355 {source="DOID:0110793", source="OMIM:613364", source="MOND xref: UMLS:C2680445 {source="NCBI:mim2gene_medline", source="OMIM:613364"} xref: UMLS:CN203988 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015088 {source="Orphanet:320355"} ! autosomal dominant pure spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:613364", source="Orphanet:320355/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110793", source="MONDO:Redundant", source="OMIM:613364", source="Orphanet:320355/inferred"} ! hereditary spastic paraplegia property_value: confidence "19.312499999999996" xsd:double [Term] @@ -258175,6 +261516,8 @@ name: neuronopathy, distal hereditary motor, type 2C def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the HSPB3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "HMN 2C" RELATED [OMIM:613376] synonym: "HMN2C" RELATED [MONDO:Lexical, OMIM:613376] +synonym: "HSPB3 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern] +synonym: "neuronopathy, distal hereditary motor caused by mutation in HSPB3" EXACT [MONDO:design_pattern] synonym: "neuronopathy, distal hereditary motor, type IIC" RELATED [MONDO:Lexical, OMIM:613376] synonym: "neuronopathy, distal hereditary motor, type IIC; HMN2C" RELATED [OMIM:613376] synonym: "neuropathy, distal hereditary motor, type 2C" RELATED [OMIM:613376] @@ -258194,8 +261537,10 @@ id: MONDO:0013244 name: brachydactyly type E2 def: "Any brachydactyly type E in which the cause of the disease is a mutation in the PTHLH gene." [MONDO:patterns/disease_series_by_gene] synonym: "BDE2" EXACT [DOID:0110976, MONDO:Lexical, OMIM:613382] +synonym: "brachydactyly type E caused by mutation in PTHLH" EXACT [MONDO:design_pattern] synonym: "brachydactyly, type E2" RELATED [MONDO:Lexical, OMIM:613382] synonym: "brachydactyly, type E2; BDE2" RELATED [OMIM:613382] +synonym: "PTHLH brachydactyly type E" EXACT [MONDO:design_pattern] xref: DOID:0110976 {source="MONDO:equivalentTo"} xref: OMIM:613382 {source="DOID:0110976", source="MONDO:equivalentTo"} xref: Orphanet:93387 {source="OMIM:613382", source="MONDO:subClassOf"} @@ -258212,8 +261557,8 @@ name: syndromic multisystem autoimmune disease due to itch deficiency subset: gard_rare subset: ordo_disease {source="Orphanet:228426"} synonym: "ADMFD" RELATED [MONDO:Lexical, OMIM:613385] -synonym: "autoimmune disease, multisystem, with facial DYSMORPHISM" RELATED [MONDO:Lexical, OMIM:613385] -synonym: "autoimmune disease, multisystem, with facial DYSMORPHISM; ADMFD" RELATED [OMIM:613385] +synonym: "autoimmune disease, multisystem, with facial dysmorphism" RELATED [MONDO:Lexical, OMIM:613385] +synonym: "autoimmune disease, multisystem, with facial dysmorphism; ADMFD" RELATED [OMIM:613385] synonym: "autoimmune disease, syndromic multisystem" RELATED [GARD:0010775] synonym: "ITCH E3 ubiquitin ligase deficiency" RELATED [GARD:0010775] synonym: "syndromic multisystem autoimmune disease" RELATED [GARD:0010775] @@ -258253,7 +261598,9 @@ def: "Any Fanconi syndrome in which the cause of the disease is a mutation in th synonym: "Fanconi renotubular syndrome 2" EXACT [MONDO:Lexical, OMIM:613388] synonym: "FANCONI renotubular syndrome 2; FRTS2" RELATED [OMIM:613388] synonym: "Fanconi renotubular syndrome type 2" EXACT [MONDORULE:1, OMIM:613388] +synonym: "Fanconi syndrome caused by mutation in SLC34A1" EXACT [MONDO:design_pattern] synonym: "FRTS2" RELATED [MONDO:Lexical, OMIM:613388] +synonym: "SLC34A1 Fanconi syndrome" EXACT [MONDO:design_pattern] xref: OMIM:613388 {source="MONDO:equivalentTo"} xref: Orphanet:3337 {source="OMIM:613388", source="MONDO:subClassOf"} xref: UMLS:C3150652 {source="NCBI:mim2gene_medline", source="OMIM:613388", source="MONDO:equivalentTo"} @@ -258269,10 +261616,12 @@ id: MONDO:0013248 name: Fanconi anemia complementation group O def: "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51C gene." [MONDO:patterns/disease_series_by_gene] synonym: "FANCO" EXACT [DOID:0111096, MONDO:Lexical, OMIM:613390] +synonym: "Fanconi anemia caused by mutation in RAD51C" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type O" EXACT [DOID:0111096, MONDORULE:1] synonym: "FANCONI ANEMIA, complementation group O" RELATED [MONDO:Lexical, OMIM:613390] synonym: "FANCONI ANEMIA, complementation group O; FANCO" RELATED [OMIM:613390] synonym: "Fanconi Anemia, complementation group type O" EXACT [MONDORULE:1, OMIM:613390] +synonym: "RAD51C Fanconi anemia" EXACT [MONDO:design_pattern] xref: DOID:0111096 {source="MONDO:equivalentTo"} xref: OMIM:613390 {source="DOID:0111096", source="MONDO:equivalentTo"} xref: UMLS:C3150653 {source="NCBI:mim2gene_medline", source="OMIM:613390", source="MONDO:equivalentTo"} @@ -258288,6 +261637,7 @@ name: autosomal recessive nonsyndromic deafness 84A def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PTPRQ gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 84A" EXACT [DOID:0110529] synonym: "autosomal recessive deafness 84A with vestibular dysfunction" EXACT [DOID:0110529] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PTPRQ" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 84A" EXACT [DOID:0110529, MONDORULE:4] synonym: "deafness, autosomal recessive 84" RELATED [OMIM:613391] synonym: "deafness, autosomal recessive 84A" RELATED [MONDO:Lexical, OMIM:613391] @@ -258295,6 +261645,7 @@ synonym: "deafness, autosomal recessive 84A, with vestibular dysfunction" RELATE synonym: "deafness, autosomal recessive 84A; DFNB84A" RELATED [OMIM:613391] synonym: "deafness, autosomal recessive type 84A" EXACT [MONDORULE:4, OMIM:613391] synonym: "DFNB84A" EXACT [DOID:0110529, MONDO:Lexical, OMIM:613391] +synonym: "PTPRQ autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110529 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110529"} xref: OMIM:613391 {source="DOID:0110529", source="MONDO:equivalentTo"} @@ -258361,7 +261712,9 @@ synonym: "breast-ovarian cancer, familial, susceptibility to, 3" EXACT [MONDO:Le synonym: "breast-ovarian cancer, familial, susceptibility to, 3; BROVCA3" RELATED [OMIM:613399] synonym: "breast-ovarian cancer, familial, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:613399] synonym: "BROVCA3" RELATED [MONDO:Lexical, OMIM:613399] +synonym: "hereditary breast ovarian cancer syndrome caused by mutation in RAD51C" EXACT [MONDO:design_pattern] synonym: "ovarian cancer, familial, susceptibility to, 3" RELATED [OMIM:613399] +synonym: "RAD51C hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern] synonym: "susceptibility to familial breast-ovarian cancer 3" RELATED [OMIM:613399] xref: OMIM:613399 {source="MONDO:equivalentTo"} xref: Orphanet:145 {source="OMIM:613399", source="MONDO:subClassOf"} @@ -258403,6 +261756,8 @@ synonym: "ARCS2" RELATED [MONDO:Lexical, OMIM:613404] synonym: "arthrogryposis, renal dysfunction, and cholestasis 2" EXACT [MONDO:Lexical, OMIM:613404] synonym: "arthrogryposis, renal dysfunction, and cholestasis 2; ARCS2" RELATED [OMIM:613404] synonym: "arthrogryposis, renal dysfunction, and cholestasis type 2" EXACT [MONDORULE:1, OMIM:613404] +synonym: "arthrogryposis-renal dysfunction-cholestasis syndrome caused by mutation in VIPAS39" EXACT [MONDO:design_pattern] +synonym: "VIPAS39 arthrogryposis-renal dysfunction-cholestasis syndrome" EXACT [MONDO:design_pattern] xref: OMIM:613404 {source="MONDO:equivalentTo"} xref: Orphanet:2697 {source="OMIM:613404", source="MONDO:subClassOf"} xref: UMLS:C3150672 {source="NCBI:mim2gene_medline", source="OMIM:613404", source="MONDO:equivalentTo"} @@ -258481,19 +261836,21 @@ name: Oguchi disease-2 def: "Any Oguchi disease in which the cause of the disease is a mutation in the GRK1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "congenital stationary night blindness Oguchi type 2" EXACT [DOID:0110713] synonym: "CSNBO2" EXACT [DOID:0110713] +synonym: "GRK1 Oguchi disease" EXACT [MONDO:design_pattern] synonym: "night blindness, congenital stationary, Oguchi type 2" RELATED [OMIM:613411] synonym: "Oguchi disease 2" RELATED [OMIM:613411] +synonym: "Oguchi disease caused by mutation in GRK1" EXACT [MONDO:design_pattern] synonym: "Oguchi disease type 2" EXACT [MONDORULE:1, OMIM:613411] xref: DOID:0110713 {source="MONDO:equivalentTo"} xref: OMIM:613411 {source="DOID:0110713", source="MONDO:equivalentTo"} xref: Orphanet:75382 {source="OMIM:613411", source="MONDO:subClassOf"} xref: UMLS:C3150678 {source="OMIM:613411", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0004587 {source="DOID:0110713"} ! hereditary night blindness is_a: MONDO:0016293 {source="DC-OMIM:613411", source="MONDOLEX:0013259", source="OMIM:613411"} ! congenital stationary night blindness is_a: MONDO:0019152 {source="MONDO:Entailed", source="ORDO:75382/btnt"} ! Oguchi disease intersection_of: MONDO:0019152 ! Oguchi disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10013 ! GRK1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10013 {source="mim2gene_medgen"} ! GRK1 +relationship: excluded_subClassOf MONDO:0004587 {source="DOID:0110713"} ! hereditary night blindness property_value: confidence "0.6666666666666661" xsd:double [Term] @@ -258513,11 +261870,13 @@ property_value: confidence "1.094356261022928" xsd:double id: MONDO:0013261 name: dilated cardiomyopathy 1R def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the ACTC1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ACTC1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "cardiomyopathy, dilated, 1R" RELATED [MONDO:Lexical, OMIM:613424] synonym: "cardiomyopathy, dilated, 1R; CMD1R" RELATED [OMIM:613424] synonym: "cardiomyopathy, dilated, type 1R" EXACT [MONDORULE:4, OMIM:613424] synonym: "CMD1R" EXACT [DOID:0110456, MONDO:Lexical, OMIM:613424] synonym: "dilated cardiomyopathy type 1R" EXACT [DOID:0110456, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in ACTC1" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction 4" RELATED [OMIM:613424] xref: DOID:0110456 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110456", source="MONDO:subClassOf"} @@ -258543,7 +261902,9 @@ synonym: "cardiomyopathy, dilated, type 1S" EXACT [MONDORULE:4, OMIM:613426] synonym: "CMD1S" EXACT [DOID:0110454, MONDO:Lexical, OMIM:613426] synonym: "dilated cardiomyopathy type 1S" EXACT [DOID:0110454, MONDORULE:4] synonym: "dilated cardiomyopathy-1S" RELATED [GARD:0012832] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in MYH7" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction 5" RELATED [GARD:0012832, OMIM:613426] +synonym: "MYH7 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110454 {source="MONDO:equivalentTo"} xref: GARD:0012832 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110454", source="MONDO:subClassOf"} @@ -258564,8 +261925,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12832/dilated id: MONDO:0013263 name: retinitis pigmentosa 54 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PCARE gene." [MONDO:patterns/disease_series_by_gene] +synonym: "PCARE retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 54" EXACT [MONDO:Lexical, OMIM:613428] synonym: "retinitis pigmentosa 54; RP54" RELATED [OMIM:613428] +synonym: "retinitis pigmentosa caused by mutation in PCARE" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 54" EXACT [DOID:0110364, MONDORULE:2, OMIM:613428] synonym: "RP54" EXACT [DOID:0110364, MONDO:Lexical, OMIM:613428] xref: DOID:0110364 {source="MONDO:equivalentTo"} @@ -258585,12 +261948,14 @@ synonym: "ALS12" EXACT [DOID:0060203, OMIM:613435] synonym: "ALS12" RELATED [MONDO:Lexical, OMIM:613435] synonym: "amyotrophic lateral sclerosis 12" EXACT [DOID:0060203, MONDO:Lexical, OMIM:613435] synonym: "amyotrophic lateral sclerosis 12; ALS12" RELATED [OMIM:613435] +synonym: "amyotrophic lateral sclerosis caused by mutation in OPTN" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 12" EXACT [MONDORULE:2, OMIM:613435] +synonym: "OPTN amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0060203 {source="MONDO:equivalentTo"} xref: OMIM:613435 {source="DOID:0060203", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:613435", source="MONDO:subClassOf"} xref: UMLS:C3150692 {source="NCBI:mim2gene_medline", source="OMIM:613435", source="MONDO:equivalentTo"} -is_a: MONDO:0004976 {source="MONDO:Redundant", source="OMIM:613435"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0060203", source="MONDO:Redundant", source="OMIM:613435"} ! amyotrophic lateral sclerosis is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17142 ! OPTN @@ -258619,7 +261984,9 @@ id: MONDO:0013266 name: intellectual disability, autosomal dominant 20 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MEF2C gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 20" RELATED [DOID:0070050] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in MEF2C" EXACT [MONDO:design_pattern] synonym: "chromosome 5Q14.3 deletion syndrome, proximal" RELATED [OMIM:613443] +synonym: "MEF2C autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 20" EXACT [DOID:0070050] synonym: "mental retardation, autosomal dominant 20" RELATED [MONDO:Lexical, OMIM:613443] synonym: "mental retardation, autosomal dominant 20; MRD20" RELATED [OMIM:613443] @@ -258692,11 +262059,13 @@ name: autosomal recessive nonsyndromic deafness 91 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SERPINB6 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "autosomal recessive deafness 91" EXACT [DOID:0110536] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SERPINB6" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 91" EXACT [DOID:0110536, MONDORULE:2] synonym: "deafness, autosomal recessive 91" RELATED [MONDO:Lexical, OMIM:613453] synonym: "deafness, autosomal recessive 91; DFNB91" RELATED [OMIM:613453] synonym: "deafness, autosomal recessive type 91" EXACT [MONDORULE:2, OMIM:613453] synonym: "DFNB91" EXACT [DOID:0110536, MONDO:Lexical, OMIM:613453] +synonym: "SERPINB6 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110536 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110536"} xref: OMIM:613453 {source="DOID:0110536", source="MONDO:equivalentTo"} @@ -258791,8 +262160,10 @@ name: retinitis pigmentosa 51 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the TTC8 gene." [MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 51" EXACT [MONDO:Lexical, OMIM:613464] synonym: "retinitis pigmentosa 51; RP51" RELATED [OMIM:613464] +synonym: "retinitis pigmentosa caused by mutation in TTC8" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 51" EXACT [DOID:0110398, MONDORULE:2, OMIM:613464] synonym: "RP51" EXACT [DOID:0110398, MONDO:Lexical, OMIM:613464] +synonym: "TTC8 retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110398 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110398", source="MONDO:relatedTo"} xref: OMIM:613464 {source="DOID:0110398", source="MONDO:equivalentTo"} @@ -258850,10 +262221,12 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4697/reynolds id: MONDO:0013277 name: epileptic encephalopathy, early infantile, 5 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SPTAN1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in SPTAN1" EXACT [MONDO:design_pattern] synonym: "EIEE5" RELATED [MONDO:Lexical, OMIM:613477] synonym: "epileptic encephalopathy, early infantile, 5" EXACT [MONDO:Lexical, OMIM:613477] synonym: "epileptic encephalopathy, early infantile, 5; EIEE5" RELATED [OMIM:613477] synonym: "epileptic encephalopathy, early infantile, type 5" EXACT [MONDORULE:1, OMIM:613477] +synonym: "SPTAN1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:613477 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="OMIM:613477", source="MONDO:subClassOf"} xref: UMLS:C3150731 {source="OMIM:613477", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -258868,6 +262241,8 @@ property_value: confidence "6.200000000000001" xsd:double id: MONDO:0013278 name: lymphedema, hereditary, 1C def: "Any hereditary lymphedema in which the cause of the disease is a mutation in the GJC2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GJC2 hereditary lymphedema" EXACT [MONDO:design_pattern] +synonym: "hereditary lymphedema caused by mutation in GJC2" EXACT [MONDO:design_pattern] synonym: "LMPH1C" RELATED [MONDO:Lexical, OMIM:613480] synonym: "lymphedema, hereditary, IC" RELATED [MONDO:Lexical, OMIM:613480] synonym: "lymphedema, hereditary, IC; LMPH1C" RELATED [OMIM:613480] @@ -258885,8 +262260,10 @@ property_value: confidence "2.599999999999999" xsd:double id: MONDO:0013279 name: long QT syndrome 13 def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNJ5 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KCNJ5 long QT syndrome" EXACT [MONDO:design_pattern] synonym: "long QT syndrome 13" EXACT [MONDO:Lexical, OMIM:613485] synonym: "long QT syndrome 13; LQT13" RELATED [OMIM:613485] +synonym: "long QT syndrome caused by mutation in KCNJ5" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 13" EXACT [DOID:0110654, MONDORULE:2, OMIM:613485] synonym: "LQT13" EXACT [DOID:0110654, MONDO:Lexical, OMIM:613485] xref: DOID:0110654 {source="MONDO:equivalentTo"} @@ -258895,7 +262272,7 @@ xref: OMIM:613485 {source="DOID:0110654", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="MONDO:directSiblingOf", source="MONDO:subClassOf", source="OMIM:613485"} xref: Orphanet:768 {source="MONDO:subClassOf", source="OMIM:613485"} xref: UMLS:C3150733 {source="NCBI:mim2gene_medline", source="OMIM:613485", source="MONDO:equivalentTo"} -is_a: MONDO:0002442 {source="MONDO:Redundant", source="OMIM:613485"} ! long QT syndrome +is_a: MONDO:0002442 {source="DOID:0110654", source="MONDO:Redundant", source="OMIM:613485"} ! long QT syndrome is_a: MONDO:0019171 {source="OMIM:613485", source="Orphanet:101016-prototype"} ! familial long QT syndrome intersection_of: MONDO:0002442 ! long QT syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6266 ! KCNJ5 @@ -258928,7 +262305,7 @@ xref: SCTID:27849002 {source="EFO:0000613", source="DOID:5363"} xref: SCTID:404069006 {source="EFO:0000613", source="DOID:5363", source="MONDO:kboom-pr-1.00/0.91/28.86", source="MONDO:equivalentTo"} xref: UMLS:C0206634 {source="OMIM:613488", source="NCBI:mim2gene_medline", source="NCIT:C27781", source="DOID:5363"} xref: UMLS:C0545074 {source="DOID:5709"} -is_a: MONDO:0005060 {source="DOID:5709", source="EFO:0000613", source="MESH:D018208", source="MONDO:Redundant", source="NCIT:C27781", source="linkedlifedata"} ! liposarcoma +is_a: MONDO:0005060 {source="DOID:5363", source="DOID:5709", source="EFO:0000613", source="MESH:D018208", source="MONDO:Redundant", source="NCIT:C27781", source="linkedlifedata"} ! liposarcoma is_a: MONDO:0020561 {source="MONDOLEX:0013280", source="ORDO:99967/btnt"} ! myxoid/round cell liposarcoma relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2726 {source="mim2gene_medgen"} ! DDIT3 relationship: disease_has_location UBERON:0001013 {source="EFO:0000784"} ! adipose tissue @@ -259040,10 +262417,12 @@ id: MONDO:0013285 name: immunodeficiency, common variable, 5 def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the MS4A1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "antibody deficiency due to CD20 defect" RELATED [OMIM:613495] +synonym: "common variable immunodeficiency caused by mutation in MS4A1" EXACT [MONDO:design_pattern] synonym: "CVID5" RELATED [MONDO:Lexical, OMIM:613495] synonym: "immunodeficiency, common variable, 5" EXACT [MONDO:Lexical, OMIM:613495] synonym: "immunodeficiency, common variable, 5; CVID5" RELATED [OMIM:613495] synonym: "immunodeficiency, common variable, type 5" EXACT [MONDORULE:1, OMIM:613495] +synonym: "MS4A1 common variable immunodeficiency" EXACT [MONDO:design_pattern] xref: OMIM:613495 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="MONDO:subClassOf", source="OMIM:613495"} xref: UMLS:C3150740 {source="NCBI:mim2gene_medline", source="OMIM:613495", source="MONDO:equivalentTo"} @@ -259057,6 +262436,8 @@ id: MONDO:0013286 name: immunodeficiency, common variable, 6 def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the CD81 gene." [MONDO:patterns/disease_series_by_gene] synonym: "antibody deficiency due to CD81 defect" RELATED [OMIM:613496] +synonym: "CD81 common variable immunodeficiency" EXACT [MONDO:design_pattern] +synonym: "common variable immunodeficiency caused by mutation in CD81" EXACT [MONDO:design_pattern] synonym: "CVID6" RELATED [MONDO:Lexical, OMIM:613496] synonym: "immunodeficiency, common variable, 6" EXACT [MONDO:Lexical, OMIM:613496] synonym: "immunodeficiency, common variable, 6; CVID6" RELATED [OMIM:613496] @@ -259077,6 +262458,8 @@ synonym: "agammaglobulinemia 2, autosomal recessive" EXACT [MONDO:Lexical, OMIM: synonym: "agammaglobulinemia 2, autosomal recessive; AGM2" RELATED [OMIM:613500] synonym: "agammaglobulinemia, autosomal recessive, due to Igll1 defect" RELATED [OMIM:613500] synonym: "AGM2" RELATED [MONDO:Lexical, OMIM:613500] +synonym: "autosomal agammaglobulinemia caused by mutation in IGLL1" EXACT [MONDO:design_pattern] +synonym: "IGLL1 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern] xref: OMIM:613500 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="OMIM:613500", source="MONDO:subClassOf"} xref: Orphanet:33110 {source="OMIM:613500", source="MONDO:subClassOf"} @@ -259096,6 +262479,8 @@ synonym: "agammaglobulinemia 3, autosomal recessive" EXACT [MONDO:Lexical, OMIM: synonym: "agammaglobulinemia 3, autosomal recessive; AGM3" RELATED [OMIM:613501] synonym: "agammaglobulinemia, autosomal recessive, due to Cd79A defect" RELATED [OMIM:613501] synonym: "AGM3" RELATED [MONDO:Lexical, OMIM:613501] +synonym: "autosomal agammaglobulinemia caused by mutation in CD79A" EXACT [MONDO:design_pattern] +synonym: "CD79A autosomal agammaglobulinemia" EXACT [MONDO:design_pattern] xref: OMIM:613501 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="OMIM:613501", source="MONDO:subClassOf"} xref: Orphanet:33110 {source="OMIM:613501", source="MONDO:subClassOf"} @@ -259115,6 +262500,8 @@ synonym: "agammaglobulinemia 4, autosomal recessive" EXACT [MONDO:Lexical, OMIM: synonym: "agammaglobulinemia 4, autosomal recessive; AGM4" RELATED [OMIM:613502] synonym: "agammaglobulinemia, autosomal recessive, due to Blnk defect" RELATED [OMIM:613502] synonym: "AGM4" RELATED [MONDO:Lexical, OMIM:613502] +synonym: "autosomal agammaglobulinemia caused by mutation in BLNK" EXACT [MONDO:design_pattern] +synonym: "BLNK autosomal agammaglobulinemia" EXACT [MONDO:design_pattern] xref: OMIM:613502 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="OMIM:613502", source="MONDO:subClassOf"} xref: Orphanet:33110 {source="OMIM:613502", source="MONDO:subClassOf"} @@ -259134,6 +262521,8 @@ synonym: "agammaglobulinemia 5, autosomal dominant" EXACT [MONDO:Lexical, OMIM:6 synonym: "agammaglobulinemia 5, autosomal dominant; AGM5" RELATED [OMIM:613506] synonym: "agammaglobulinemia, autosomal dominant, due to Lrrc8A defect" RELATED [OMIM:613506] synonym: "AGM5" RELATED [MONDO:Lexical, OMIM:613506] +synonym: "autosomal agammaglobulinemia caused by mutation in LRRC8A" EXACT [MONDO:design_pattern] +synonym: "LRRC8A autosomal agammaglobulinemia" EXACT [MONDO:design_pattern] xref: OMIM:613506 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="MONDO:subClassOf", source="OMIM:613506"} xref: Orphanet:33110 {source="MONDO:subClassOf", source="OMIM:613506"} @@ -259172,7 +262561,7 @@ xref: OMIM:613507 {source="Orphanet:263297", source="DOID:0050579", source="MOND xref: Orphanet:263297 {source="OMIM:613507", source="MONDO:equivalentTo"} xref: SCTID:717821004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.80/8.95"} xref: UMLS:C3150754 {source="NCBI:mim2gene_medline", source="OMIM:613507", source="MONDO:equivalentTo"} -is_a: MONDO:0002412 {source="DC-OMIM:613507", source="DOID:0050579", source="OMIM:613507", source="Orphanet:263297", source="linkedlifedata"} ! glycogen storage disease +is_a: MONDO:0002412 {source="DC-OMIM:613507", source="DOID:0050579", source="DOID:0050579/inferred", source="OMIM:613507", source="Orphanet:263297", source="linkedlifedata"} ! glycogen storage disease is_a: MONDO:0016118 {source="Orphanet:263297"} ! muscular glycogenosis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4699 {source="mim2gene_medgen"} ! GYG1 property_value: confidence "3.2857142857142847" xsd:double @@ -259201,6 +262590,7 @@ property_value: confidence "13.000000000000023" xsd:double id: MONDO:0013293 name: isolated microphthalmia 6 def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the PRSS56 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "isolated microphthalmia caused by mutation in PRSS56" EXACT [MONDO:design_pattern] synonym: "isolated microphthalmia type 6" EXACT [DOID:0060835, MONDORULE:1] synonym: "MCOP6" EXACT [DOID:0060835, MONDO:Lexical, OMIM:613517] synonym: "microphthalmia, isolated 6" RELATED [MONDO:Lexical, OMIM:613517] @@ -259208,6 +262598,7 @@ synonym: "microphthalmia, isolated 6; MCOP6" RELATED [OMIM:613517] synonym: "microphthalmia, isolated type 6" EXACT [MONDORULE:1, OMIM:613517] synonym: "microphthalmia, posterior nonsyndromic" RELATED [OMIM:613517] synonym: "posterior nonsyndromic microphthalmia" EXACT [DOID:0060835] +synonym: "PRSS56 isolated microphthalmia" EXACT [MONDO:design_pattern] xref: DOID:0060835 {source="MONDO:equivalentTo"} xref: ICD10:Q11.0 {source="DOID:0060835"} xref: OMIM:613517 {source="DOID:0060835", source="MONDO:equivalentTo"} @@ -259400,9 +262791,11 @@ id: MONDO:0013303 name: autoimmune disease, susceptibility to, 6 def: "Any autoimmune disease in which the cause of the disease is a mutation in the SIAE gene." [MONDO:patterns/disease_series_by_gene] synonym: "AIS6" RELATED [MONDO:Lexical, OMIM:613551] +synonym: "autoimmune disease caused by mutation in SIAE" EXACT [MONDO:design_pattern] synonym: "autoimmune disease, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:613551] synonym: "autoimmune disease, susceptibility to, 6; AIS6" RELATED [OMIM:613551] synonym: "autoimmune disease, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:613551] +synonym: "SIAE autoimmune disease" EXACT [MONDO:design_pattern] synonym: "susceptibility to autoimmune disease 6" RELATED [OMIM:613551] xref: OMIM:613551 {source="MONDO:equivalentTo"} xref: UMLS:C3150797 {source="NCBI:mim2gene_medline", source="OMIM:613551"} @@ -259474,8 +262867,10 @@ id: MONDO:0013306 name: combined oxidative phosphorylation defect type 7 def: "Combined oxidative phosphorylation defect type 7 is a rare mitochondrial disease due to a defect in mitochondrial protein synthesis characterized by a variable phenotype that includes onset in infancy or early childhood of failure to thrive and psychomotor regression (after initial normal development), as well as ocular manifestations (such as ptosis, nystagmus, optic atrophy, ophthalmoplegia and reduced vision). Additional manifestations include bulbar paresis with facial weakness, hypotonia, difficulty chewing, dysphagia, mild dysarthria, ataxia, global muscle atrophy, and areflexia. It has a relatively slow disease progression with patients often living into the third decade of life." [Orphanet:254930] subset: ordo_disease {source="Orphanet:254930"} +synonym: "C12orf65 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency 7" RELATED [MONDO:Lexical, OMIM:613559] synonym: "combined oxidative phosphorylation deficiency 7; COXPD7" RELATED [OMIM:613559] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in C12orf65" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 7" EXACT [MONDORULE:1, OMIM:613559] synonym: "COXPD7" EXACT [MONDO:Lexical, OMIM:613559, Orphanet:254930] synonym: "Severe C12ORF65-related combined oxidative phosphorylation defect" EXACT [Orphanet:254930] @@ -259495,10 +262890,12 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013307 name: myopathy, lactic acidosis, and sideroblastic anemia 2 def: "Any mitochondrial myopathy and sideroblastic anemia in which the cause of the disease is a mutation in the YARS2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "mitochondrial myopathy and sideroblastic anemia caused by mutation in YARS2" EXACT [MONDO:design_pattern] synonym: "MLASA2" RELATED [MONDO:Lexical, OMIM:613561] synonym: "myopathy, lactic acidosis, and sideroblastic anemia 2" EXACT [MONDO:Lexical, OMIM:613561] synonym: "MYOPATHY, lactic acidosis, and sideroblastic ANEMIA 2; MLASA2" RELATED [OMIM:613561] synonym: "Myopathy, lactic acidosis, and sideroblastic Anemia type 2" EXACT [MONDORULE:1, OMIM:613561] +synonym: "YARS2 mitochondrial myopathy and sideroblastic anemia" EXACT [MONDO:design_pattern] xref: OMIM:613561 {source="MONDO:equivalentTo"} xref: Orphanet:2598 {source="MONDO:subClassOf", source="OMIM:613561"} xref: UMLS:C3150802 {source="NCBI:mim2gene_medline", source="OMIM:613561", source="MONDO:equivalentTo"} @@ -259592,8 +262989,10 @@ property_value: confidence "9.0" xsd:double id: MONDO:0013312 name: retinitis pigmentosa 55 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ARL6 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 55" EXACT [MONDO:Lexical, OMIM:613575] synonym: "retinitis pigmentosa 55; RP55" RELATED [OMIM:613575] +synonym: "retinitis pigmentosa caused by mutation in ARL6" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 55" EXACT [DOID:0110370, MONDORULE:2, OMIM:613575] synonym: "RP55" EXACT [DOID:0110370, MONDO:Lexical, OMIM:613575] xref: DOID:0110370 {source="MONDO:equivalentTo"} @@ -259624,9 +263023,11 @@ property_value: confidence "6.5" xsd:double id: MONDO:0013314 name: retinitis pigmentosa 56 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IMPG2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "IMPG2 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "maculopathy, Impg2-Related" RELATED [OMIM:613581] synonym: "retinitis pigmentosa 56" EXACT [MONDO:Lexical, OMIM:613581] synonym: "retinitis pigmentosa 56; RP56" RELATED [OMIM:613581] +synonym: "retinitis pigmentosa caused by mutation in IMPG2" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 56" EXACT [DOID:0110371, MONDORULE:2, OMIM:613581] synonym: "RP56" EXACT [DOID:0110371, MONDO:Lexical, OMIM:613581] xref: DOID:0110371 {source="MONDO:equivalentTo"} @@ -259644,8 +263045,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18 id: MONDO:0013315 name: retinitis pigmentosa 57 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6G gene." [MONDO:patterns/disease_series_by_gene] +synonym: "PDE6G retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 57" EXACT [MONDO:Lexical, OMIM:613582] synonym: "retinitis pigmentosa 57; RP57" RELATED [OMIM:613582] +synonym: "retinitis pigmentosa caused by mutation in PDE6G" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 57" EXACT [DOID:0110407, MONDORULE:2, OMIM:613582] synonym: "RP57" EXACT [DOID:0110407, MONDO:Lexical, OMIM:613582] xref: DOID:0110407 {source="MONDO:equivalentTo"} @@ -259766,7 +263169,9 @@ def: "Any cranioectodermal dysplasia in which the cause of the disease is a muta synonym: "CED2" RELATED [MONDO:Lexical, OMIM:613610] synonym: "cranioectodermal dysplasia 2" EXACT [MONDO:Lexical, OMIM:613610] synonym: "CRANIOECTODERMAL dysplasia 2; CED2" RELATED [OMIM:613610] +synonym: "cranioectodermal dysplasia caused by mutation in WDR35" EXACT [MONDO:design_pattern] synonym: "Cranioectodermal dysplasia type 2" EXACT [MONDORULE:1, OMIM:613610] +synonym: "WDR35 cranioectodermal dysplasia" EXACT [MONDO:design_pattern] xref: OMIM:613610 {source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="OMIM:613610", source="MONDO:subClassOf"} xref: UMLS:C3150874 {source="OMIM:613610", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -259806,8 +263211,7 @@ synonym: "CDG syndrome type 3" RELATED [GARD:0001173] synonym: "CDG syndrome type III" EXACT [Orphanet:263487] synonym: "CDG-III" EXACT [Orphanet:263487] synonym: "CDG2I" EXACT [MONDO:Lexical, OMIM:613612, Orphanet:263487] -synonym: "COG5-CDG (CDG-IIi)" RELATED [GARD:0012348] -synonym: "COG5-CDG (CDG-Iii)" RELATED [GARD:0012348] +synonym: "COG5-CDG (CDG-III)" RELATED [GARD:0012348] synonym: "congenital disorder of glycosylation type 2i" EXACT [Orphanet:263487] synonym: "congenital disorder of glycosylation type III" EXACT [Orphanet:263487] synonym: "congenital disorder of glycosylation, type III" RELATED [MONDO:Lexical, OMIM:613612] @@ -259831,8 +263235,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1173/cdg-synd id: MONDO:0013326 name: Senior-Loken syndrome 7 def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the SDCCAG8 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "SDCCAG8 Senior-Loken syndrome" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome 7" EXACT [MONDO:Lexical, OMIM:613615] synonym: "SENIOR-Loken syndrome 7; SLSN7" RELATED [OMIM:613615] +synonym: "Senior-Loken syndrome caused by mutation in SDCCAG8" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome type 7" EXACT [MONDORULE:1, OMIM:613615] synonym: "SLSN7" RELATED [MONDO:Lexical, OMIM:613615] xref: OMIM:613615 {source="MONDO:equivalentTo"} @@ -259849,11 +263255,13 @@ name: primary hyperoxaluria type 3 def: "Primary hyperoxaluria type 3 (PH3) is a disorder of glyoxylate metabolism that can be asymptomatic or characterized by oxalate nephrolithiasis." [Orphanet:93600] subset: gard_rare {source="GARD:0010738"} subset: ordo_clinical_subtype {source="Orphanet:93600"} +synonym: "HOGA1 primary hyperoxaluria" EXACT [MONDO:design_pattern] synonym: "HP3" RELATED [MONDO:Lexical, OMIM:613616] synonym: "hyperoxaluria, primary, type 3" RELATED [OMIM:613616] synonym: "hyperoxaluria, primary, type III" RELATED [MONDO:Lexical, OMIM:613616] synonym: "hyperoxaluria, primary, type III; HP3" RELATED [OMIM:613616] synonym: "PH III" RELATED [GARD:0010738] +synonym: "primary hyperoxaluria caused by mutation in HOGA1" EXACT [MONDO:design_pattern] synonym: "primary hyperoxaluria type III" EXACT [NCIT:C123214] xref: GARD:0010738 {source="MONDO:equivalentTo"} xref: ICD10:E74.8 {source="Orphanet:93600", source="ORDO:93600/attributed", source="ORDO:93600/ntbt"} @@ -259875,8 +263283,10 @@ name: retinitis pigmentosa 58 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF513 gene." [MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 58" EXACT [MONDO:Lexical, OMIM:613617] synonym: "retinitis pigmentosa 58; RP58" RELATED [OMIM:613617] +synonym: "retinitis pigmentosa caused by mutation in ZNF513" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 58" EXACT [DOID:0110362, MONDORULE:2, OMIM:613617] synonym: "RP58" EXACT [DOID:0110362, MONDO:Lexical, OMIM:613617] +synonym: "ZNF513 retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110362 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110362", source="MONDO:relatedTo"} xref: OMIM:613617 {source="DOID:0110362", source="MONDO:equivalentTo"} @@ -259915,10 +263325,12 @@ is_a: MONDO:0003847 ! inherited genetic disease id: MONDO:0013331 name: factor 5 and Factor VIII, combined deficiency of, 2 def: "Any combined deficiency of factor V and factor VIII in which the cause of the disease is a mutation in the MCFD2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "combined deficiency of factor V and factor VIII caused by mutation in MCFD2" EXACT [MONDO:design_pattern] synonym: "F5F8D2" RELATED [MONDO:Lexical, OMIM:613625] synonym: "Factor 5 and Factor Viii, combined deficiency of, type 2" EXACT [MONDORULE:1, OMIM:613625] synonym: "FACTOR V and FACTOR VIII, combined deficiency of, 2" RELATED [MONDO:Lexical, OMIM:613625] synonym: "FACTOR V and FACTOR VIII, combined deficiency of, 2; F5F8D2" RELATED [OMIM:613625] +synonym: "MCFD2 combined deficiency of factor V and factor VIII" EXACT [MONDO:design_pattern] xref: OMIM:613625 {source="MONDO:equivalentTo"} xref: Orphanet:35909 {source="OMIM:613625", source="MONDO:subClassOf"} xref: UMLS:C3150889 {source="NCBI:mim2gene_medline", source="OMIM:613625", source="MONDO:equivalentTo"} @@ -260015,7 +263427,7 @@ xref: DOID:0070157 {source="MONDO:equivalentTo"} xref: OMIM:613640 {source="DOID:0070157", source="MONDO:equivalentTo"} xref: Orphanet:36386 {source="OMIM:613640", source="MONDO:subClassOf"} xref: UMLS:C3150896 {source="OMIM:613640", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018213 {source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 +is_a: MONDO:0018213 {source="DOID:0070157", source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11278 {source="mim2gene_medgen"} ! SPTLC2 property_value: confidence "0.7993530796457187" xsd:double @@ -260025,6 +263437,7 @@ name: Charcot-Marie-tooth disease recessive intermediate b def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type B is an extremely rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by a CMT neuropathy associated with developmental delay, self-abusive behavior, dysmorphic features and vestibular Schwannoma. Motor nerve conduction velocities demonstrate features of both demyelinating and axonal pathology." [Orphanet:254334] subset: ordo_disease {source="Orphanet:254334"} synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type B" EXACT [DOID:0110204] +synonym: "Charcot-Marie-tooth disease caused by mutation in KARS" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease recessive intermediate type B" EXACT [DOID:0110204, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, recessive intermediate B" RELATED [MONDO:Lexical, OMIM:613641] synonym: "Charcot-Marie-Tooth disease, recessive intermediate B; CMTRIB" RELATED [OMIM:613641] @@ -260033,6 +263446,7 @@ synonym: "Charcot-Marie-Tooth disease, recessive intermediate, B" RELATED [GARD: synonym: "Charcot-Marie-Tooth neuropathy recessive intermediate B" EXACT [DOID:0110204] synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate B" RELATED [OMIM:613641] synonym: "CMTRIB" EXACT [DOID:0110204, MONDO:Lexical, OMIM:613641] +synonym: "KARS Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] synonym: "RI-CMT type B" EXACT [Orphanet:254334] synonym: "RI-CMTB" EXACT [DOID:0110204] xref: DOID:0110204 {source="MONDO:equivalentTo"} @@ -260041,7 +263455,7 @@ xref: ICD10:G60.0 {source="Orphanet:254334", source="DOID:0110204", source="ORDO xref: OMIM:613641 {source="Orphanet:254334", source="DOID:0110204", source="ORDO:254334/e", source="MONDO:equivalentTo"} xref: Orphanet:254334 {source="OMIM:613641", source="DOID:0110204", source="MONDO:equivalentTo"} xref: UMLS:C3150897 {source="NCBI:mim2gene_medline", source="OMIM:613641", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:613641", source="Orphanet:254334/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110204/inferred", source="MONDO:Redundant", source="OMIM:613641", source="Orphanet:254334/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0017058 {source="MONDOLEX:0013338", source="Orphanet:254334"} ! autosomal recessive intermediate Charcot-Marie-tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6215 ! KARS @@ -260057,6 +263471,8 @@ synonym: "cardiomyopathy, dilated, 1GG; CMD1GG" RELATED [OMIM:613642] synonym: "cardiomyopathy, dilated, type 1Gg" EXACT [MONDORULE:9, OMIM:613642] synonym: "CMD1GG" EXACT [DOID:0110435, MONDO:Lexical, OMIM:613642] synonym: "dilated cardiomyopathy type 1GG" EXACT [DOID:0110435, MONDORULE:9] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in SDHA" EXACT [MONDO:design_pattern] +synonym: "SDHA familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110435 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110435", source="MONDO:subClassOf"} xref: OMIM:613642 {source="DOID:0110435", source="MONDO:equivalentTo"} @@ -260076,6 +263492,8 @@ synonym: "PARK5" RELATED [MONDO:Lexical, OMIM:613643] synonym: "Parkinson disease 5, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:613643] synonym: "Parkinson disease 5, autosomal dominant, susceptibility to; PARK5" RELATED [OMIM:613643] synonym: "susceptibility to autosomal dominant Parkinson disease 5" RELATED [OMIM:613643] +synonym: "UCHL1 young-onset Parkinson disease" EXACT [MONDO:design_pattern] +synonym: "young-onset Parkinson disease caused by mutation in UCHL1" EXACT [MONDO:design_pattern] xref: OMIM:613643 {source="MONDO:equivalentTo"} xref: Orphanet:2828 {source="OMIM:613643", source="MONDO:subClassOf"} xref: UMLS:C3150899 {source="OMIM:613643", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -260091,6 +263509,8 @@ id: MONDO:0013341 name: methylmalonic acidemia due to transcobalamin receptor defect def: "Methylmalonic aciduria due to transcobalamin receptor defect is a rare metabolite absorption and transport disorder characterized by a moderate increase of methylmalonic acid (MMA) in the blood and urine due to decreased cellular uptake of cobalamin resulting from decreased transcobalamin receptor function. Patients are usually asymptomatic however, screening reveals increased C3-acylcarnitine and MMA in plasma. Serum homocysteine levels may vary from normal to moderately elevated and retinal vascular occlusive disease, resulting in severe visual loss, has been reported." [Orphanet:280183] subset: ordo_biological_anomaly {source="Orphanet:280183"} +synonym: "CD320 methylmalonic acidemia" EXACT [MONDO:design_pattern] +synonym: "methylmalonic acidemia caused by mutation in CD320" EXACT [MONDO:design_pattern] synonym: "methylmalonic acidemia, TCb1R type" EXACT [DOID:0060741, Orphanet:280183] synonym: "methylmalonic acidemia, TCbIR type" EXACT [DOID:0060741, Orphanet:280183] synonym: "methylmalonic acidemia, Tcblr type" RELATED [OMIM:613646] @@ -260113,8 +263533,10 @@ id: MONDO:0013342 name: hereditary spastic paraplegia 48 def: "Autosomal recessive spastic paraplegia type 48 (SPG48) is a form of hereditary spastic paraplegia usually characterized by a pure phenotype of a slowly progressive spastic paraplegia associated with urinary incontinence with an onset in mid- to late-adulthood. A complex phenotype, with the additional findings of cognitive impairment, sensorimotor polyneuropathy, ataxia and parkinsonism, as well as thin corpus callosum and white matter lesions (seen on magnetic resonance imaging), has also been reported." [Orphanet:306511] subset: ordo_disease {source="Orphanet:306511"} +synonym: "AP5Z1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 48" EXACT [DOID:0110800] synonym: "autosomal recessive spastic paraplegia type 48" EXACT [DOID:0110800] +synonym: "hereditary spastic paraplegia caused by mutation in AP5Z1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 48" EXACT [DOID:0110800, MONDORULE:2] synonym: "spastic paraplegia 48, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613647] synonym: "spastic paraplegia 48, autosomal recessive; SPG48" RELATED [OMIM:613647] @@ -260127,7 +263549,7 @@ xref: UMLS:C3150901 {source="NCBI:mim2gene_medline", source="OMIM:613647", sourc is_a: MONDO:0002561 {source="Orphanet:306511"} ! lysosomal storage disease is_a: MONDO:0017915 {source="Orphanet:306511"} ! pure or complex autosomal recessive spastic paraplegia is_a: MONDO:0019058 {source="Orphanet:306511"} ! neurometabolic disease -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:613647", source="Orphanet:306511/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110800", source="MONDO:Redundant", source="OMIM:613647", source="Orphanet:306511/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/22197 ! AP5Z1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/22197 {source="mim2gene_medgen"} ! AP5Z1 @@ -260158,7 +263580,9 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12958/c1q-def id: MONDO:0013344 name: migraine, with or without aura, susceptibility to, 13 def: "Any migraine disorder in which the cause of the disease is a mutation in the KCNK18 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KCNK18 migraine disorder" EXACT [MONDO:design_pattern] synonym: "MGR13" RELATED [MONDO:Lexical, OMIM:613656] +synonym: "migraine disorder caused by mutation in KCNK18" EXACT [MONDO:design_pattern] synonym: "migraine with or without aura, susceptibility to, 13" RELATED [OMIM:613656] synonym: "migraine with OR without aura, susceptibility to, 13; MGR13" RELATED [OMIM:613656] synonym: "migraine, with or without aura, susceptibility to, 13" EXACT [MONDO:Lexical, OMIM:613656] @@ -260180,8 +263604,10 @@ name: d-2-hydroxyglutaric aciduria 2 def: "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the IDH2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "d-2-hydroxyglutaric aciduria 2" EXACT [MONDO:Lexical, OMIM:613657] synonym: "D-2-hydroxyglutaric aciduria 2; D2HGA2" RELATED [OMIM:613657] +synonym: "D-2-hydroxyglutaric aciduria caused by mutation in IDH2" EXACT [MONDO:design_pattern] synonym: "D-2-hydroxyglutaric aciduria type 2" EXACT [MONDORULE:1, OMIM:613657] synonym: "D2HGA2" RELATED [MONDO:Lexical, OMIM:613657] +synonym: "IDH2 D-2-hydroxyglutaric aciduria" EXACT [MONDO:design_pattern] xref: OMIM:613657 {source="MONDO:equivalentTo"} xref: Orphanet:79315 {source="OMIM:613657", source="MONDO:subClassOf"} xref: UMLS:C3150909 {source="NCBI:mim2gene_medline", source="OMIM:613657", source="MONDO:equivalentTo"} @@ -260215,8 +263641,10 @@ replaced_by: MONDO:0001056 id: MONDO:0013348 name: cone-rod dystrophy 15 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the CDHR1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CDHR1 cone-rod dystrophy" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy 15" EXACT [MONDO:Lexical, OMIM:613660] synonym: "cone-ROD dystrophy 15; CORD15" RELATED [OMIM:613660] +synonym: "cone-rod dystrophy caused by mutation in CDHR1" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 15" EXACT [MONDORULE:2, OMIM:613660] synonym: "cone-rod dystrophy type 15" EXACT [DOID:0111021, MONDORULE:2] synonym: "CORD15" EXACT [DOID:0111021, MONDO:Lexical, OMIM:613660] @@ -260330,8 +263758,10 @@ def: "Any autosomal recessive spastic ataxia in which the cause of the disease i subset: ordo_disease {source="Orphanet:254343"} synonym: "autosomal recessive spastic ataxia - optic atrophy - dysarthria" RELATED [GARD:0010992] synonym: "autosomal recessive spastic ataxia 4" RELATED [GARD:0010992] +synonym: "autosomal recessive spastic ataxia caused by mutation in MTPAP" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic ataxia type 4" EXACT [Orphanet:254343] synonym: "autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome" RELATED [Orphanet:254343] +synonym: "MTPAP autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern] synonym: "spastic ataxia 4, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613672] synonym: "spastic ataxia 4, autosomal recessive; SPAX4" RELATED [OMIM:613672] synonym: "spastic ataxia type 4" EXACT [DOID:0050943, MONDORULE:1] @@ -260343,7 +263773,7 @@ xref: OMIM:613672 {source="Orphanet:254343", source="ORDO:254343/e", source="DOI xref: Orphanet:254343 {source="OMIM:613672", source="MONDO:equivalentTo"} xref: UMLS:C3150925 {source="NCBI:mim2gene_medline", source="OMIM:613672", source="MONDO:equivalentTo"} xref: UMLS:CN230090 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0017845 {source="MONDO:Redundant", source="OMIM:613672", source="Orphanet:254343/inferred"} ! spastic ataxia +is_a: MONDO:0017845 {source="DOID:0050943", source="MONDO:Redundant", source="OMIM:613672", source="Orphanet:254343/inferred"} ! spastic ataxia is_a: MONDO:0017847 {source="MONDOLEX:0013354", source="Orphanet:254343"} ! autosomal recessive spastic ataxia is_a: MONDO:0018157 {source="Orphanet:254343"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis intersection_of: MONDO:0017847 ! autosomal recessive spastic ataxia @@ -260428,9 +263858,11 @@ property_value: confidence "0.47078947368421087" xsd:double id: MONDO:0013358 name: Seckel syndrome 4 def: "Any Seckel syndrome in which the cause of the disease is a mutation in the CENPJ gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CENPJ Seckel syndrome" EXACT [MONDO:design_pattern] synonym: "SCKL4" EXACT [DOID:0070010, MONDO:Lexical, OMIM:613676] synonym: "Seckel syndrome 4" EXACT [MONDO:Lexical, OMIM:613676] synonym: "Seckel syndrome 4; SCKL4" RELATED [OMIM:613676] +synonym: "Seckel syndrome caused by mutation in CENPJ" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 4" EXACT [MONDORULE:1, OMIM:613676] xref: DOID:0070010 {source="MONDO:equivalentTo"} xref: OMIM:613676 {source="DOID:0070010", source="MONDO:equivalentTo"} @@ -260590,6 +264022,8 @@ is_a: MONDO:0019588 {source="DC-OMIM:613685", source="DOID:0110528", source="OMI id: MONDO:0013366 name: spondylocostal dysostosis 4, autosomal recessive def: "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the HES7 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in HES7" EXACT [MONDO:design_pattern] +synonym: "HES7 autosomal recessive spondylocostal dysostosis" EXACT [MONDO:design_pattern] synonym: "SCDO4" RELATED [MONDO:Lexical, OMIM:613686] synonym: "spondylocostal dysostosis 4" RELATED [GARD:0004976] synonym: "spondylocostal dysostosis 4, autosomal recessive" EXACT [MONDO:Lexical, OMIM:613686] @@ -260634,7 +264068,7 @@ xref: UMLS:C3276240 {source="OMIM:613688"} xref: UMLS:C3277700 {source="OMIM:613688"} xref: UMLS:C3279092 {source="OMIM:613688"} xref: UMLS:C3279093 {source="OMIM:613688"} -is_a: MONDO:0002442 {source="MESH:C563614", source="MONDO:Redundant", source="NCIT:C137957", source="OMIM:613688"} ! long QT syndrome +is_a: MONDO:0002442 {source="DOID:0110645", source="MESH:C563614", source="MONDO:Redundant", source="NCIT:C137957", source="OMIM:613688"} ! long QT syndrome is_a: MONDO:0019171 {source="OMIM:613688", source="Orphanet:101016-prototype"} ! familial long QT syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23162 {source="mim2gene_medgen"} ! ALG10 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6251 {source="mim2gene_medgen"} ! KCNH2 @@ -260671,8 +264105,10 @@ synonym: "cardiomyopathy, familial hypertrophic, 7" RELATED [MONDO:Lexical, OMIM synonym: "cardiomyopathy, familial hypertrophic, 7; CMH7" RELATED [OMIM:613690] synonym: "cardiomyopathy, familial hypertrophic, type 7" EXACT [MONDORULE:1, OMIM:613690] synonym: "CMH7" EXACT [DOID:0110313, MONDO:Lexical, OMIM:613690] +synonym: "hypertrophic cardiomyopathy caused by mutation in TNNI3" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 7" EXACT [DOID:0110313, MONDORULE:1] synonym: "TNNC1" EXACT [Orphanet:120184] +synonym: "TNNI3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "troponin I3, cardiac type" RELATED [Orphanet:120184] xref: DOID:0110313 {source="MONDO:equivalentTo"} xref: OMIM:613690 {source="DOID:0110313", source="MONDO:equivalentTo"} @@ -260691,10 +264127,12 @@ id: MONDO:0013370 name: long QT syndrome 6 def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE2 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010434"} +synonym: "KCNE2 long QT syndrome" EXACT [MONDO:design_pattern] synonym: "long QT syndrome 3/6, digenic" RELATED [OMIM:613693] synonym: "long QT syndrome 6" EXACT [MONDO:Lexical, OMIM:613693] synonym: "long QT syndrome 6, acquired, susceptibility to" RELATED [OMIM:613693] synonym: "long QT syndrome 6; LQT6" RELATED [OMIM:613693] +synonym: "long QT syndrome caused by mutation in KCNE2" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 6" EXACT [DOID:0110648, MONDORULE:1, OMIM:613693] synonym: "LQT6" EXACT [DOID:0110648, MONDO:Lexical, OMIM:613693] xref: DOID:0110648 {source="MONDO:equivalentTo"} @@ -260709,7 +264147,7 @@ xref: UMLS:C1863518 {source="GARD:0010434"} xref: UMLS:C3150953 {source="NCBI:mim2gene_medline", source="OMIM:613693", source="MONDO:equivalentTo"} xref: UMLS:C3150954 {source="OMIM:613693"} xref: UMLS:C3276241 {source="OMIM:613693"} -is_a: MONDO:0002442 {source="MESH:C566333", source="MONDO:Redundant", source="OMIM:613693"} ! long QT syndrome +is_a: MONDO:0002442 {source="DOID:0110648", source="MESH:C566333", source="MONDO:Redundant", source="OMIM:613693"} ! long QT syndrome is_a: MONDO:0019171 {source="OMIM:613693", source="Orphanet:101016-prototype"} ! familial long QT syndrome intersection_of: MONDO:0002442 ! long QT syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6242 ! KCNE2 @@ -260726,6 +264164,8 @@ synonym: "cardiomyopathy, dilated, 1U; CMD1U" RELATED [OMIM:613694] synonym: "cardiomyopathy, dilated, type 1U" EXACT [MONDORULE:4, OMIM:613694] synonym: "CMD1U" EXACT [DOID:0110455, MONDO:Lexical, OMIM:613694] synonym: "dilated cardiomyopathy type 1U" EXACT [DOID:0110455, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in PSEN1" EXACT [MONDO:design_pattern] +synonym: "PSEN1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110455 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110455", source="MONDO:subClassOf"} xref: MESH:C566296 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -260744,10 +264184,12 @@ id: MONDO:0013372 name: long QT syndrome 5 def: "Any long QT syndrome in which the cause of the disease is a mutation in the KCNE1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010433"} +synonym: "KCNE1 long QT syndrome" EXACT [MONDO:design_pattern] synonym: "long QT syndrome 2/5, digenic" RELATED [OMIM:613695] synonym: "long QT syndrome 5" EXACT [MONDO:Lexical, OMIM:613695] synonym: "long QT syndrome 5, acquired, susceptibility to" RELATED [OMIM:613695] synonym: "long QT syndrome 5; LQT5" RELATED [OMIM:613695] +synonym: "long QT syndrome caused by mutation in KCNE1" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 5" EXACT [DOID:0110647, MONDORULE:1, OMIM:613695] synonym: "LQT5" EXACT [DOID:0110647, MONDO:Lexical, OMIM:613695] xref: DOID:0110647 {source="MONDO:equivalentTo"} @@ -260761,7 +264203,7 @@ xref: Orphanet:768 {source="OMIM:613695", source="MONDO:subClassOf"} xref: UMLS:C1867904 {source="OMIM:613695", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:C3150956 {source="OMIM:613695"} xref: UMLS:C3279092 {source="OMIM:613695"} -is_a: MONDO:0002442 {source="MESH:C566766", source="MONDO:Redundant", source="OMIM:613695"} ! long QT syndrome +is_a: MONDO:0002442 {source="DOID:0110647", source="MESH:C566766", source="MONDO:Redundant", source="OMIM:613695"} ! long QT syndrome is_a: MONDO:0019171 {source="OMIM:613695", source="Orphanet:101016-prototype"} ! familial long QT syndrome intersection_of: MONDO:0002442 ! long QT syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6240 ! KCNE1 @@ -260778,6 +264220,8 @@ synonym: "cardiomyopathy, dilated, 1V; CMD1V" RELATED [OMIM:613697] synonym: "cardiomyopathy, dilated, type 1V" EXACT [MONDORULE:4, OMIM:613697] synonym: "CMD1V" EXACT [DOID:0110427, MONDO:Lexical, OMIM:613697] synonym: "dilated cardiomyopathy type 1V" EXACT [DOID:0110427, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in PSEN2" EXACT [MONDO:design_pattern] +synonym: "PSEN2 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110427 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110427", source="MONDO:subClassOf"} xref: MESH:C566856 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -260803,6 +264247,8 @@ is_a: MONDO:0003847 ! inherited genetic disease id: MONDO:0013375 name: Klippel-Feil syndrome 3, autosomal dominant def: "Any isolated Klippel-Feil syndrome in which the cause of the disease is a mutation in the GDF3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GDF3 isolated Klippel-Feil syndrome" EXACT [MONDO:design_pattern] +synonym: "isolated Klippel-Feil syndrome caused by mutation in GDF3" EXACT [MONDO:design_pattern] synonym: "KFS3" RELATED [MONDO:Lexical, OMIM:613702] synonym: "Klippel-Feil syndrome 3, autosomal dominant" EXACT [MONDO:Lexical, OMIM:613702] synonym: "Klippel-FEIL syndrome 3, autosomal dominant; KFS3" RELATED [OMIM:613702] @@ -260836,6 +264282,8 @@ property_value: confidence "0.8448594714285722" xsd:double id: MONDO:0013377 name: isolated microphthalmia 7 def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the GDF3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GDF3 isolated microphthalmia" EXACT [MONDO:design_pattern] +synonym: "isolated microphthalmia caused by mutation in GDF3" EXACT [MONDO:design_pattern] synonym: "isolated microphthalmia type 7" EXACT [DOID:0060838, MONDORULE:1] synonym: "MCOP7" EXACT [DOID:0060838, MONDO:Lexical, OMIM:613704] synonym: "microphthalmia, isolated 7" RELATED [MONDO:Lexical, OMIM:613704] @@ -260857,11 +264305,13 @@ property_value: confidence "1.9907692307692297" xsd:double id: MONDO:0013378 name: orofacial cleft 10 def: "Any orofacial cleft in which the cause of the disease is a mutation in the SUMO1 gene." [MONDO:patterns/disease_series_by_gene] -synonym: "cleft 51P with or without cleft palate, nonsyndromic, 10" RELATED [OMIM:613705] +synonym: "cleft lip with or without cleft palate, nonsyndromic, 10" RELATED [OMIM:613705] synonym: "OFC10" RELATED [MONDO:Lexical, OMIM:613705] synonym: "orofacial cleft 10" EXACT [MONDO:Lexical, OMIM:613705] synonym: "orofacial cleft 10; OFC10" RELATED [OMIM:613705] +synonym: "orofacial cleft caused by mutation in SUMO1" EXACT [MONDO:design_pattern] synonym: "orofacial cleft type 10" EXACT [MONDORULE:2, OMIM:613705] +synonym: "SUMO1 orofacial cleft" EXACT [MONDO:design_pattern] xref: MESH:C566605 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613705 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:613705", source="MONDO:subClassOf"} @@ -260871,14 +264321,17 @@ is_a: MONDO:0016044 {source="ORDO:199306/btnt"} ! cleft lip/palate intersection_of: MONDO:0000358 ! orofacial cleft intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12502 ! SUMO1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12502 {source="mim2gene_medgen"} ! SUMO1 +relationship: has_modifier MONDO:0021128 ! has an isolated presentation property_value: confidence "1.7876687750502525" xsd:double [Term] id: MONDO:0013379 name: Noonan syndrome 7 def: "Any Noonan syndrome in which the cause of the disease is a mutation in the BRAF gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BRAF Noonan syndrome" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome 7" EXACT [MONDO:Lexical, OMIM:613706] synonym: "Noonan syndrome 7; NS7" RELATED [OMIM:613706] +synonym: "Noonan syndrome caused by mutation in BRAF" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome type 7" EXACT [DOID:0060585, MONDORULE:1, OMIM:613706] synonym: "NS7" EXACT [DOID:0060585, MONDO:Lexical, OMIM:613706] xref: DOID:0060585 {source="MONDO:equivalentTo"} @@ -260895,10 +264348,12 @@ property_value: confidence "1.9999999999999991" xsd:double id: MONDO:0013380 name: LEOPARD syndrome 3 def: "Any Noonan syndrome with multiple lentigines in which the cause of the disease is a mutation in the BRAF gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BRAF Noonan syndrome with multiple lentigines" EXACT [MONDO:design_pattern] synonym: "leopard syndrome 3" EXACT [MONDO:Lexical, OMIM:613707] synonym: "LEOPARD syndrome 3; LPRD3" RELATED [OMIM:613707] synonym: "Leopard syndrome type 3" EXACT [MONDORULE:1, OMIM:613707] synonym: "LPRD3" RELATED [MONDO:Lexical, OMIM:613707] +synonym: "Noonan syndrome with multiple lentigines caused by mutation in BRAF" EXACT [MONDO:design_pattern] xref: OMIM:613707 {source="MONDO:equivalentTo"} xref: Orphanet:500 {source="MONDO:subClassOf", source="OMIM:613707"} xref: UMLS:C3150971 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613707"} @@ -260920,7 +264375,7 @@ xref: DOID:0070156 {source="MONDO:equivalentTo"} xref: OMIM:613708 {source="DOID:0070156", source="MONDO:equivalentTo"} xref: Orphanet:36386 {source="MONDO:subClassOf", source="OMIM:613708"} xref: UMLS:C3150972 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:613708"} -is_a: MONDO:0018213 {source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 +is_a: MONDO:0018213 {source="DOID:0070156", source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11231 {source="mim2gene_medgen"} ! ATL1 property_value: confidence "0.7993530796457187" xsd:double @@ -260948,6 +264403,8 @@ id: MONDO:0013383 name: Hirschsprung disease, susceptibility to, 3 def: "Any Hirschsprung disease in which the cause of the disease is a mutation in the GDNF gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare +synonym: "GDNF Hirschsprung disease" EXACT [MONDO:design_pattern] +synonym: "Hirschsprung disease caused by mutation in GDNF" EXACT [MONDO:design_pattern] synonym: "Hirschsprung disease modifier" RELATED [GARD:0002699] synonym: "Hirschsprung disease type 3" RELATED [GARD:0002699] synonym: "Hirschsprung disease, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:613711] @@ -260972,6 +264429,8 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2699/hirschsp id: MONDO:0013384 name: Hirschsprung disease, susceptibility to, 4 def: "Any Hirschsprung disease in which the cause of the disease is a mutation in the EDN3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "EDN3 Hirschsprung disease" EXACT [MONDO:design_pattern] +synonym: "Hirschsprung disease caused by mutation in EDN3" EXACT [MONDO:design_pattern] synonym: "Hirschsprung disease, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:613712] synonym: "Hirschsprung disease, susceptibility to, 4; HSCR4" RELATED [OMIM:613712] synonym: "Hirschsprung disease, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:613712] @@ -260989,10 +264448,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/31 id: MONDO:0013385 name: Treacher Collins syndrome 2 def: "Any Treacher-Collins syndrome in which the cause of the disease is a mutation in the POLR1D gene." [MONDO:patterns/disease_series_by_gene] +synonym: "POLR1D Treacher-Collins syndrome" EXACT [MONDO:design_pattern] synonym: "TCS2" RELATED [MONDO:Lexical, OMIM:613717] synonym: "Treacher Collins syndrome 2" EXACT [MONDO:Lexical, OMIM:613717] synonym: "TREACHER COLLINS syndrome 2; TCS2" RELATED [OMIM:613717] synonym: "Treacher Collins syndrome type 2" EXACT [MONDORULE:1, OMIM:613717] +synonym: "Treacher-Collins syndrome caused by mutation in POLR1D" EXACT [MONDO:design_pattern] xref: OMIM:613717 {source="MONDO:equivalentTo"} xref: Orphanet:861 {source="OMIM:613717", source="MONDO:subClassOf"} xref: UMLS:C3150983 {source="NCBI:mim2gene_medline", source="OMIM:613717", source="MONDO:equivalentTo"} @@ -261008,11 +264469,13 @@ name: autosomal recessive nonsyndromic deafness 74 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MSRB3 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "autosomal recessive deafness 74" EXACT [DOID:0110523] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MSRB3" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 74" EXACT [DOID:0110523, MONDORULE:2] synonym: "deafness, autosomal recessive 74" RELATED [MONDO:Lexical, OMIM:613718] synonym: "deafness, autosomal recessive 74; DFNB74" RELATED [OMIM:613718] synonym: "deafness, autosomal recessive type 74" EXACT [MONDORULE:2, OMIM:613718] synonym: "DFNB74" EXACT [DOID:0110523, MONDO:Lexical, OMIM:613718] +synonym: "MSRB3 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110523 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110523"} xref: OMIM:613718 {source="DOID:0110523", source="MONDO:equivalentTo"} @@ -261049,10 +264512,12 @@ property_value: confidence "6.200000000000001" xsd:double id: MONDO:0013388 name: epileptic encephalopathy, early infantile, 11 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN2A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in SCN2A" EXACT [MONDO:design_pattern] synonym: "EIEE11" RELATED [MONDO:Lexical, OMIM:613721] synonym: "epileptic encephalopathy, early infantile, 11" EXACT [MONDO:Lexical, OMIM:613721] synonym: "epileptic encephalopathy, early infantile, 11; EIEE11" RELATED [OMIM:613721] synonym: "epileptic encephalopathy, early infantile, type 11" EXACT [MONDORULE:2, OMIM:613721] +synonym: "SCN2A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:613721 {source="MONDO:equivalentTo"} xref: UMLS:C3150987 {source="NCBI:mim2gene_medline", source="OMIM:613721", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:613721", source="OMIM:613721"} ! early infantile epileptic encephalopathy @@ -261067,10 +264532,12 @@ name: epileptic encephalopathy, early infantile, 12 def: "Early Infantile Epileptic Encephalopathy type 12 (EIEE12) is an extremely rare nervous system disorder. Infants with EIEE12 develop very frequent epileptic seizures. Seizures present within the first days to months of life. Seizures may trigger eye rolling, eyelid fluttering, lip smacking, drooling, bluish coloring around the mouth, limpness, or muscle stiffening (particularly those in his or her back, legs, and arms). The seizures associated with this disease are difficult to treat and the syndrome is severely progressive. EIEE12 occurs when a child inherits two mutations in the PLCB1 gene (one from each parent). EIEE12 is inherited in an autosomal recessive fashion." [https://rarediseases.info.nih.gov/diseases/13318/early-infantile-epileptic-encephalopathy-12] subset: gard_rare {source="GARD:0013318"} synonym: "early infantile epileptic encephalopathy 12" RELATED [GARD:0013318] +synonym: "early infantile epileptic encephalopathy caused by mutation in PLCB1" EXACT [MONDO:design_pattern] synonym: "EIEE12" RELATED [MONDO:Lexical, OMIM:613722] synonym: "epileptic encephalopathy, early infantile, 12" EXACT [MONDO:Lexical, OMIM:613722] synonym: "epileptic encephalopathy, early infantile, 12; EIEE12" RELATED [OMIM:613722] synonym: "epileptic encephalopathy, early infantile, type 12" EXACT [MONDORULE:2, OMIM:613722] +synonym: "PLCB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: GARD:0013318 {source="MONDO:equivalentTo"} xref: OMIM:613722 {source="MONDO:equivalentTo"} xref: Orphanet:293181 {source="OMIM:613722", source="MONDO:subClassOf"} @@ -261134,6 +264601,8 @@ name: autosomal recessive spinocerebellar ataxia 10 def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the ANO10 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:284289"} synonym: "adult-onset autosomal recessive cerebellar ataxia" RELATED [Orphanet:284289] +synonym: "ANO10 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern] +synonym: "autosomal recessive cerebellar ataxia caused by mutation in ANO10" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spinocerebellar ataxia type 10" EXACT [DOID:0050999, MONDORULE:2, Orphanet:284289] synonym: "SCAR10" EXACT [DOID:0050999, MONDO:Lexical, OMIM:613728, Orphanet:284289] synonym: "spinocerebellar ataxia, autosomal recessive 10" RELATED [MONDO:Lexical, OMIM:613728] @@ -261190,8 +264659,10 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:0010405"} synonym: "retinitis pigmentosa 4" EXACT [MONDO:Lexical, OMIM:613731] synonym: "retinitis pigmentosa 4; RP4" RELATED [OMIM:613731] +synonym: "retinitis pigmentosa caused by mutation in RHO" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 4" EXACT [DOID:0110372, MONDORULE:1, OMIM:613731] synonym: "retinitis pigmentosa, rhodopsin-Related" RELATED [OMIM:613731] +synonym: "RHO retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "RP 4" RELATED [GARD:0010405] synonym: "RP4" EXACT [DOID:0110372, MONDO:Lexical, OMIM:613731] xref: DOID:0110372 {source="MONDO:equivalentTo"} @@ -261244,6 +264715,8 @@ synonym: "acne inversa, familial, 2, with OR without Dowling-Degos disease; ACNI synonym: "acne inversa, familial, 2; ACNINV2" RELATED [OMIM:613736] synonym: "acne inversa, familial, type 2" EXACT [MONDORULE:1, OMIM:613736] synonym: "ACNINV2" RELATED [MONDO:Lexical, OMIM:613736] +synonym: "familial acne inversa caused by mutation in PSENEN" EXACT [MONDO:design_pattern] +synonym: "PSENEN familial acne inversa" EXACT [MONDO:design_pattern] xref: OMIM:613736 {source="MONDO:equivalentTo"} xref: Orphanet:387 {source="OMIM:613736"} xref: UMLS:C3151037 {source="NCBI:mim2gene_medline", source="OMIM:613736", source="MONDO:equivalentTo"} @@ -261260,6 +264733,8 @@ synonym: "acne inversa, familial, 3" EXACT [MONDO:Lexical, OMIM:613737] synonym: "acne inversa, familial, 3; ACNINV3" RELATED [OMIM:613737] synonym: "acne inversa, familial, type 3" EXACT [MONDORULE:1, OMIM:613737] synonym: "ACNINV3" RELATED [MONDO:Lexical, OMIM:613737] +synonym: "familial acne inversa caused by mutation in PSEN1" EXACT [MONDO:design_pattern] +synonym: "PSEN1 familial acne inversa" EXACT [MONDO:design_pattern] xref: OMIM:613737 {source="MONDO:equivalentTo"} xref: Orphanet:387 {source="OMIM:613737"} xref: UMLS:C3151038 {source="NCBI:mim2gene_medline", source="OMIM:613737", source="MONDO:equivalentTo"} @@ -261303,10 +264778,12 @@ property_value: confidence "2.6923076923076925" xsd:double id: MONDO:0013401 name: hereditary spastic paraplegia 51 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4E1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AP4E1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "autosomal dominant spastic paraplegia 51" EXACT [DOID:0110803] synonym: "cerebral palsy, spastic quadriplegic, 4" RELATED [OMIM:613744] synonym: "cerebral palsy, spastic quadriplegic, 4, formerly" RELATED [OMIM:613744] synonym: "CPSQ4" EXACT [DOID:0110803] +synonym: "hereditary spastic paraplegia caused by mutation in AP4E1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 51" EXACT [DOID:0110803, MONDORULE:2] synonym: "spastic paraplegia 51, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613744] synonym: "spastic paraplegia 51, autosomal recessive; SPG51" RELATED [OMIM:613744] @@ -261317,7 +264794,7 @@ xref: OMIM:613744 {source="DOID:0110803", source="MONDO:equivalentTo"} xref: Orphanet:280763 {source="OMIM:613744", source="MONDO:subClassOf", source="DOID:0110803"} xref: UMLS:C3151056 {source="NCBI:mim2gene_medline", source="OMIM:613744", source="MONDO:equivalentTo"} is_a: MONDO:0017241 {source="ORDO:280763/btnt"} ! severe intellectual disability and progressive spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:613744"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110803", source="MONDO:Redundant", source="OMIM:613744"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/573 ! AP4E1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/573 {source="mim2gene_medgen"} ! AP4E1 @@ -261327,9 +264804,11 @@ property_value: confidence "5.0" xsd:double id: MONDO:0013402 name: retinitis pigmentosa 27 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NRL gene." [MONDO:patterns/disease_series_by_gene] +synonym: "NRL retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinal Degeneration, autosomal recessive, Clumped pigment type" RELATED [OMIM:613750] synonym: "retinitis pigmentosa 27" EXACT [MONDO:Lexical, OMIM:613750] synonym: "retinitis pigmentosa 27; RP27" RELATED [OMIM:613750] +synonym: "retinitis pigmentosa caused by mutation in NRL" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 27" EXACT [DOID:0110397, MONDORULE:2, OMIM:613750] synonym: "RP27" EXACT [DOID:0110397, MONDO:Lexical, OMIM:613750] xref: DOID:0110397 {source="MONDO:equivalentTo"} @@ -261346,9 +264825,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/80 id: MONDO:0013403 name: heterotaxy, visceral, 4, autosomal def: "Any visceral heterotaxy in which the cause of the disease is a mutation in the ACVR2B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ACVR2B visceral heterotaxy" EXACT [MONDO:design_pattern] synonym: "heterotaxy, visceral, 4, autosomal" EXACT [MONDO:Lexical, OMIM:613751] synonym: "heterotaxy, visceral, 4, autosomal; HTX4" RELATED [OMIM:613751] synonym: "HTX4" RELATED [MONDO:Lexical, OMIM:613751] +synonym: "visceral heterotaxy caused by mutation in ACVR2B" EXACT [MONDO:design_pattern] xref: OMIM:613751 {source="MONDO:equivalentTo"} xref: Orphanet:450 {source="OMIM:613751", source="MONDO:subClassOf"} xref: UMLS:C3151057 {source="NCBI:mim2gene_medline", source="OMIM:613751", source="MONDO:equivalentTo"} @@ -261374,7 +264855,7 @@ xref: OMIM:613752 {source="ORDO:88618/e", source="Orphanet:88618", source="DOID: xref: Orphanet:88618 {source="OMIM:613752", source="DOID:0111039", source="MONDO:equivalentTo"} xref: UMLS:C3151058 {source="OMIM:613752", source="Orphanet:88618", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:C4510276 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0000351 {source="DC-OMIM:613752", source="DOID:0111039"} ! hypermethioninemia (disease) +is_a: MONDO:0000351 {source="DC-OMIM:613752", source="DOID:0111039"} ! disorder of methionine catabolism is_a: MONDO:0015983 {source="Orphanet:88618"} ! rare genetic syndromic intellectual disability is_a: MONDO:0019222 {source="Orphanet:88618"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/343 {source="mim2gene_medgen"} ! AHCY @@ -261384,8 +264865,10 @@ property_value: confidence "16.142857142857142" xsd:double id: MONDO:0013405 name: retinitis pigmentosa 49 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGA1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CNGA1 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 49" EXACT [MONDO:Lexical, OMIM:613756] synonym: "retinitis pigmentosa 49; RP49" RELATED [OMIM:613756] +synonym: "retinitis pigmentosa caused by mutation in CNGA1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 49" EXACT [DOID:0110377, MONDORULE:2, OMIM:613756] synonym: "RP49" EXACT [DOID:0110377, MONDO:Lexical, OMIM:613756] xref: DOID:0110377 {source="MONDO:equivalentTo"} @@ -261402,10 +264885,12 @@ id: MONDO:0013406 name: age related macular degeneration 6 def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the RAX2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "age related macular degeneration type 6" EXACT [DOID:0110018, MONDORULE:1] +synonym: "age-related macular degeneration caused by mutation in RAX2" EXACT [MONDO:design_pattern] synonym: "ARMD6" EXACT [DOID:0110018, MONDO:Lexical, OMIM:613757] synonym: "macular DEGENERATION, AGE-RELATED, 6" RELATED [MONDO:Lexical, OMIM:613757] synonym: "macular DEGENERATION, AGE-RELATED, 6; ARMD6" RELATED [OMIM:613757] synonym: "macular Degeneration, Age-Related, type 6" EXACT [MONDORULE:1, OMIM:613757] +synonym: "RAX2 age-related macular degeneration" EXACT [MONDO:design_pattern] xref: DOID:0110018 {source="MONDO:equivalentTo"} xref: MESH:C563674 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613757 {source="DOID:0110018", source="MONDO:equivalentTo"} @@ -261423,8 +264908,10 @@ name: retinitis pigmentosa 47 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SAG gene." [MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 47" EXACT [MONDO:Lexical, OMIM:613758] synonym: "retinitis pigmentosa 47; RP47" RELATED [OMIM:613758] +synonym: "retinitis pigmentosa caused by mutation in SAG" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 47" EXACT [DOID:0110369, MONDORULE:2, OMIM:613758] synonym: "RP47" EXACT [DOID:0110369, MONDO:Lexical, OMIM:613758] +synonym: "SAG retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110369 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110369", source="MONDO:relatedTo"} xref: OMIM:613758 {source="DOID:0110369", source="MONDO:equivalentTo"} @@ -261454,7 +264941,9 @@ id: MONDO:0013409 name: age related macular degeneration 5 def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "age related macular degeneration type 5" EXACT [DOID:0110028, MONDORULE:1] +synonym: "age-related macular degeneration caused by mutation in ERCC6" EXACT [MONDO:design_pattern] synonym: "ARMD5" EXACT [DOID:0110028, MONDO:Lexical, OMIM:613761] +synonym: "ERCC6 age-related macular degeneration" EXACT [MONDO:design_pattern] synonym: "macular DEGENERATION, AGE-RELATED, 5" RELATED [MONDO:Lexical, OMIM:613761] synonym: "macular DEGENERATION, AGE-RELATED, 5; ARMD5" RELATED [OMIM:613761] synonym: "macular Degeneration, Age-Related, type 5" EXACT [MONDORULE:1, OMIM:613761] @@ -261494,8 +264983,10 @@ synonym: "cataract 16, multiple types" RELATED [MONDO:Lexical, OMIM:613763] synonym: "cataract 16, multiple types; CTRCT16" RELATED [OMIM:613763] synonym: "cataract, congenital lamellar" RELATED [OMIM:613763] synonym: "cataract, posterior polar, 2" RELATED [OMIM:613763] +synonym: "CRYAB early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] synonym: "CTPP2" NARROW [DOID:0110250] synonym: "CTRCT16" EXACT [DOID:0110250, MONDO:Lexical, OMIM:613763] +synonym: "early-onset non-syndromic cataract caused by mutation in CRYAB" EXACT [MONDO:design_pattern] synonym: "posterior polar cataract 2" NARROW [DOID:0110250] xref: DOID:0110250 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110250"} @@ -261507,7 +264998,7 @@ xref: Orphanet:98995 {source="OMIM:613763", source="MONDO:subClassOf"} xref: UMLS:C0266537 {source="OMIM:613763"} xref: UMLS:C3151065 {source="OMIM:613763", source="NCBI:mim2gene_medline"} xref: UMLS:C3808377 {source="OMIM:613763"} -is_a: MONDO:0005129 {source="DOID", source="MESH:C565134", source="MONDO:Redundant", source="OMIM:613763"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110250", source="MESH:C565134", source="MONDO:Redundant", source="OMIM:613763"} ! cataract (disease) is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt"} ! early-onset partial cataract is_a: MONDO:0020379 {source="ORDO:98995/btnt"} ! early-onset zonular cataract @@ -261525,14 +265016,16 @@ synonym: "cardiomyopathy, familial hypertrophic, 9" RELATED [MONDO:Lexical, OMIM synonym: "cardiomyopathy, familial hypertrophic, 9; CMH9" RELATED [OMIM:613765] synonym: "cardiomyopathy, familial hypertrophic, type 9" EXACT [MONDORULE:1, OMIM:613765] synonym: "CMH9" EXACT [DOID:0110315, MONDO:Lexical, OMIM:613765] +synonym: "hypertrophic cardiomyopathy caused by mutation in TTN" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 9" EXACT [DOID:0110315, MONDORULE:1] +synonym: "TTN hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110315 {source="MONDO:equivalentTo"} xref: MESH:C566044 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613765 {source="DOID:0110315", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:613765"} xref: UMLS:C1861065 {source="NCBI:mim2gene_medline", source="OMIM:613765", source="MONDO:equivalentTo"} is_a: MONDO:0005045 {source="DC-OMIM:613765", source="DOID:0110315", source="MESH:C566044/inferred", source="MONDO:Redundant", source="OMIM:613765"} ! hypertrophic cardiomyopathy -is_a: MONDO:0024573 {source="MONDOLEX:0013412", source="OMIM", source="OMIM:613765"} ! familial hypertrophic cardiomyopathy +is_a: MONDO:0024573 {source="MESH:C566044", source="MONDOLEX:0013412", source="OMIM", source="OMIM:613765"} ! familial hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12403 ! TTN relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12403 {source="mim2gene_medgen"} ! TTN @@ -261542,8 +265035,10 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0013413 name: retinitis pigmentosa 45 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CNGB1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CNGB1 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 45" EXACT [MONDO:Lexical, OMIM:613767] synonym: "retinitis pigmentosa 45; RP45" RELATED [OMIM:613767] +synonym: "retinitis pigmentosa caused by mutation in CNGB1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 45" EXACT [DOID:0110402, MONDORULE:2, OMIM:613767] synonym: "RP45" EXACT [DOID:0110402, MONDO:Lexical, OMIM:613767] xref: DOID:0110402 {source="MONDO:equivalentTo"} @@ -261561,7 +265056,9 @@ name: retinitis pigmentosa 44 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RGR gene." [MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 44" EXACT [MONDO:Lexical, OMIM:613769] synonym: "retinitis pigmentosa 44; RP44" RELATED [OMIM:613769] +synonym: "retinitis pigmentosa caused by mutation in RGR" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 44" EXACT [DOID:0110394, MONDORULE:2, OMIM:613769] +synonym: "RGR retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "RP44" EXACT [DOID:0110394, MONDO:Lexical, OMIM:613769] xref: DOID:0110394 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110394", source="MONDO:relatedTo"} @@ -261589,7 +265086,9 @@ id: MONDO:0013416 name: age related macular degeneration 8 def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the ARMS2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "age related macular degeneration type 8" EXACT [DOID:0110020, MONDORULE:1] +synonym: "age-related macular degeneration caused by mutation in ARMS2" EXACT [MONDO:design_pattern] synonym: "ARMD8" EXACT [DOID:0110020, MONDO:Lexical, OMIM:613778] +synonym: "ARMS2 age-related macular degeneration" EXACT [MONDO:design_pattern] synonym: "macular DEGENERATION, AGE-RELATED, 8" RELATED [MONDO:Lexical, OMIM:613778] synonym: "macular DEGENERATION, AGE-RELATED, 8; ARMD8" RELATED [OMIM:613778] synonym: "macular Degeneration, Age-Related, type 8" EXACT [MONDORULE:1, OMIM:613778] @@ -261608,9 +265107,11 @@ id: MONDO:0013417 name: complement component 3 deficiency def: "A rare genetic disorder with an autosomal recessive pattern of inheritance. It is caused by the ineffective or decreased biosynthesis of the third complement component, C3. C3 deficiency may also be acquired acutely post-infection or chronically from co-morbid autoimmune disorders. If C3 is adequately synthesized, its rapid depletion may result in a functional deficiency. Clinical signs of the inherited deficiency present within the first decade of life and are consistent with the signs of recurrent systemic infection or immune complex disease. Deficiency of serum C3 and its major cleavage product, C3b, will decrease the effective humoral immune response to encapsulated bacteria. Deficiency of C3 also impairs clearance of circulating immune complexes and therefore predisposes to rheumatic and renal disease." [NCIT:P378] subset: ordo_disease {source="Orphanet:280133"} +synonym: "C3 classic complement early component deficiency" EXACT [MONDO:design_pattern] synonym: "C3 deficiency" EXACT [DOID:8354, Orphanet:280133] synonym: "C3 deficiency, autosomal recessive" RELATED [OMIM:613779] synonym: "C3d" RELATED [MONDO:Lexical, OMIM:613779] +synonym: "classic complement early component deficiency caused by mutation in C3" EXACT [MONDO:design_pattern] synonym: "complement component 3 deficiency, autosomal recessive" RELATED [MONDO:Lexical, OMIM:613779] synonym: "complement component 3 deficiency, autosomal recessive; C3d" RELATED [OMIM:613779] xref: DOID:8354 {source="MONDO:equivalentTo"} @@ -261622,7 +265123,7 @@ xref: Orphanet:280133 {source="OMIM:613779", source="DOID:8354", source="MONDO:e xref: UMLS:C1332655 {source="DOID:8354", source="NCIT:C9468", source="MEDGEN:kboom-pr93-c96", source="MONDO:equivalentTo"} xref: UMLS:C3151071 {source="NCBI:mim2gene_medline", source="OMIM:613779", source="Orphanet:280133", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} is_a: MONDO:0000015 {source="DC-OMIM:613779"} ! classic complement early component deficiency -is_a: MONDO:0003832 {source="MONDO:Redundant", source="NCIT:C9468", source="Orphanet:280133"} ! complement deficiency +is_a: MONDO:0003832 {source="DOID:8354", source="MONDO:Redundant", source="NCIT:C9468", source="Orphanet:280133"} ! complement deficiency intersection_of: MONDO:0000015 ! classic complement early component deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1318 ! C3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1318 {source="mim2gene_medgen"} ! C3 @@ -261668,7 +265169,9 @@ id: MONDO:0013420 name: age related macular degeneration 12 def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the CX3CR1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "age related macular degeneration type 12" EXACT [DOID:0110024, MONDORULE:2] +synonym: "age-related macular degeneration caused by mutation in CX3CR1" EXACT [MONDO:design_pattern] synonym: "ARMD12" EXACT [DOID:0110024, MONDO:Lexical, OMIM:613784] +synonym: "CX3CR1 age-related macular degeneration" EXACT [MONDO:design_pattern] synonym: "macular DEGENERATION, AGE-RELATED, 12" RELATED [MONDO:Lexical, OMIM:613784] synonym: "macular DEGENERATION, AGE-RELATED, 12; ARMD12" RELATED [OMIM:613784] synonym: "macular Degeneration, Age-Related, type 12" EXACT [MONDORULE:2, OMIM:613784] @@ -261690,8 +265193,10 @@ subset: gard_rare {source="GARD:0010625"} synonym: "C8 Beta deficiency" RELATED [OMIM:613789] synonym: "C8 deficiency type II" RELATED [GARD:0010625] synonym: "C8 deficiency, type 2" RELATED [OMIM:613789] +synonym: "C8B classic complement early component deficiency" EXACT [MONDO:design_pattern] synonym: "C8B deficiency" RELATED [OMIM:613789] synonym: "C8D2" RELATED [MONDO:Lexical, OMIM:613789] +synonym: "classic complement early component deficiency caused by mutation in C8B" EXACT [MONDO:design_pattern] synonym: "complement component 8 deficiency type 2" RELATED [GARD:0010625] synonym: "complement component 8 deficiency type II" RELATED [GARD:0010625] synonym: "complement component 8 deficiency, type 2" RELATED [OMIM:613789] @@ -261723,8 +265228,10 @@ synonym: "C8 Alpha-gamma deficiency" RELATED [OMIM:613790] synonym: "C8 deficiency type I" RELATED [GARD:0010626] synonym: "C8 deficiency, type 1" RELATED [OMIM:613790] synonym: "C81 deficiency" RELATED [GARD:0010626] +synonym: "C8A classic complement early component deficiency" EXACT [MONDO:design_pattern] synonym: "C8Ag deficiency" RELATED [OMIM:613790] synonym: "C8D1" RELATED [MONDO:Lexical, OMIM:613790] +synonym: "classic complement early component deficiency caused by mutation in C8A" EXACT [MONDO:design_pattern] synonym: "complement component 8 deficiency type 1" RELATED [GARD:0010626] synonym: "complement component 8 deficiency type I" RELATED [GARD:0010626] synonym: "complement component 8 deficiency, type 1" RELATED [OMIM:613790] @@ -261807,9 +265314,11 @@ def: "Any retinitis pigmentosa in which the cause of the disease is a mutation i subset: gard_rare {source="GARD:0010404"} synonym: "retinitis pigmentosa 20" EXACT [MONDO:Lexical, OMIM:613794] synonym: "retinitis pigmentosa 20; RP20" RELATED [OMIM:613794] +synonym: "retinitis pigmentosa caused by mutation in RPE65" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 20" EXACT [DOID:0110353, MONDORULE:2, OMIM:613794] synonym: "RP 20" RELATED [GARD:0010404] synonym: "RP20" EXACT [DOID:0110353, MONDO:Lexical, OMIM:613794] +synonym: "RPE65 retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110353 {source="MONDO:equivalentTo"} xref: GARD:0010404 {source="MONDO:equivalentTo"} xref: http://identifiers.org/hgnc/10294 {source="GARD:0010404"} @@ -261875,8 +265384,10 @@ name: Meier-Gorlin syndrome 2 def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Meier-Gorlin syndrome 2" EXACT [MONDO:Lexical, OMIM:613800] synonym: "Meier-GORLIN syndrome 2; MGORS2" RELATED [OMIM:613800] +synonym: "Meier-Gorlin syndrome caused by mutation in ORC4" EXACT [MONDO:design_pattern] synonym: "Meier-Gorlin syndrome type 2" EXACT [MONDORULE:1, OMIM:613800] synonym: "MGORS2" RELATED [MONDO:Lexical, OMIM:613800] +synonym: "ORC4 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern] xref: OMIM:613800 {source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="OMIM:613800", source="MONDO:subClassOf"} xref: UMLS:C3151097 {source="NCBI:mim2gene_medline", source="OMIM:613800", source="MONDO:equivalentTo"} @@ -261890,8 +265401,10 @@ property_value: confidence "4.714285714285715" xsd:double id: MONDO:0013429 name: retinitis pigmentosa 40 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "PDE6B retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 40" EXACT [MONDO:Lexical, OMIM:613801] synonym: "retinitis pigmentosa 40; RP40" RELATED [OMIM:613801] +synonym: "retinitis pigmentosa caused by mutation in PDE6B" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 40" EXACT [DOID:0110375, MONDORULE:2, OMIM:613801] synonym: "RP40" EXACT [DOID:0110375, MONDO:Lexical, OMIM:613801] xref: DOID:0110375 {source="MONDO:equivalentTo"} @@ -261909,8 +265422,10 @@ name: Meier-Gorlin syndrome 3 def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the ORC6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Meier-Gorlin syndrome 3" EXACT [MONDO:Lexical, OMIM:613803] synonym: "Meier-GORLIN syndrome 3; MGORS3" RELATED [OMIM:613803] +synonym: "Meier-Gorlin syndrome caused by mutation in ORC6" EXACT [MONDO:design_pattern] synonym: "Meier-Gorlin syndrome type 3" EXACT [MONDORULE:1, OMIM:613803] synonym: "MGORS3" RELATED [MONDO:Lexical, OMIM:613803] +synonym: "ORC6 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern] xref: OMIM:613803 {source="MONDO:equivalentTo"} xref: Orphanet:2554 {source="MONDO:subClassOf", source="OMIM:613803"} xref: UMLS:C3151113 {source="NCBI:mim2gene_medline", source="OMIM:613803", source="MONDO:equivalentTo"} @@ -261924,8 +265439,10 @@ property_value: confidence "4.714285714285715" xsd:double id: MONDO:0013431 name: Meier-Gorlin syndrome 4 def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDT1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CDT1 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern] synonym: "Meier-Gorlin syndrome 4" EXACT [MONDO:Lexical, OMIM:613804] synonym: "Meier-GORLIN syndrome 4; MGORS4" RELATED [OMIM:613804] +synonym: "Meier-Gorlin syndrome caused by mutation in CDT1" EXACT [MONDO:design_pattern] synonym: "Meier-Gorlin syndrome type 4" EXACT [MONDORULE:1, OMIM:613804] synonym: "MGORS4" RELATED [MONDO:Lexical, OMIM:613804] xref: OMIM:613804 {source="MONDO:equivalentTo"} @@ -261941,8 +265458,10 @@ property_value: confidence "4.714285714285715" xsd:double id: MONDO:0013432 name: Meier-Gorlin syndrome 5 def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CDC6 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern] synonym: "Meier-Gorlin syndrome 5" EXACT [MONDO:Lexical, OMIM:613805] synonym: "Meier-GORLIN syndrome 5; MGORS5" RELATED [OMIM:613805] +synonym: "Meier-Gorlin syndrome caused by mutation in CDC6" EXACT [MONDO:design_pattern] synonym: "Meier-Gorlin syndrome type 5" EXACT [MONDORULE:1, OMIM:613805] synonym: "MGORS5" RELATED [MONDO:Lexical, OMIM:613805] xref: OMIM:613805 {source="MONDO:equivalentTo"} @@ -261980,12 +265499,14 @@ property_value: confidence "15.500000000000014" xsd:double id: MONDO:0013434 name: primary ciliary dyskinesia 14 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC39 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CCDC39 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "CILD14" EXACT [DOID:0110598, MONDO:Lexical, OMIM:613807] synonym: "ciliary dyskinesia, primary, 14" RELATED [MONDO:Lexical, OMIM:613807] synonym: "ciliary dyskinesia, primary, 14, with or without situs inversus" RELATED [OMIM:613807] synonym: "ciliary dyskinesia, primary, 14; CILD14" RELATED [OMIM:613807] synonym: "ciliary dyskinesia, primary, type 14" EXACT [MONDORULE:2, OMIM:613807] synonym: "primary ciliary dyskinesia 14 with or without situs inversus" EXACT [DOID:0110598] +synonym: "primary ciliary dyskinesia caused by mutation in CCDC39" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 14" EXACT [DOID:0110598, MONDORULE:2] xref: DOID:0110598 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110598"} @@ -262001,12 +265522,14 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25 id: MONDO:0013435 name: primary ciliary dyskinesia 15 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC40 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CCDC40 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "CILD15" EXACT [DOID:0110623, MONDO:Lexical, OMIM:613808] synonym: "ciliary dyskinesia, primary, 15" RELATED [MONDO:Lexical, OMIM:613808] synonym: "ciliary dyskinesia, primary, 15, with or without situs inversus" RELATED [OMIM:613808] synonym: "ciliary dyskinesia, primary, 15; CILD15" RELATED [OMIM:613808] synonym: "ciliary dyskinesia, primary, type 15" EXACT [MONDORULE:2, OMIM:613808] synonym: "primary ciliary dyskinesia 15 with or without situs inversus" EXACT [DOID:0110623] +synonym: "primary ciliary dyskinesia caused by mutation in CCDC40" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 15" EXACT [DOID:0110623, MONDORULE:2] xref: DOID:0110623 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110623"} @@ -262024,8 +265547,10 @@ name: retinitis pigmentosa 39 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the USH2A gene." [MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 39" EXACT [MONDO:Lexical, OMIM:613809] synonym: "retinitis pigmentosa 39; RP39" RELATED [OMIM:613809] +synonym: "retinitis pigmentosa caused by mutation in USH2A" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 39" EXACT [DOID:0110360, MONDORULE:2, OMIM:613809] synonym: "RP39" EXACT [DOID:0110360, MONDO:Lexical, OMIM:613809] +synonym: "USH2A retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110360 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110360"} xref: OMIM:613809 {source="MONDO:equivalentTo", source="DOID:0110360"} @@ -262040,8 +265565,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12 id: MONDO:0013437 name: retinitis pigmentosa 43 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PDE6A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "PDE6A retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 43" EXACT [MONDO:Lexical, OMIM:613810] synonym: "retinitis pigmentosa 43; RP43" RELATED [OMIM:613810] +synonym: "retinitis pigmentosa caused by mutation in PDE6A" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 43" EXACT [DOID:0110379, MONDORULE:2, OMIM:613810] synonym: "RP43" EXACT [DOID:0110379, MONDO:Lexical, OMIM:613810] xref: DOID:0110379 {source="MONDO:equivalentTo"} @@ -262059,16 +265586,18 @@ name: pontocerebellar hypoplasia type 2D def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the SEPSECS gene." [MONDO:patterns/disease_series_by_gene] synonym: "cerebello-cerebral atrophy, progressive" RELATED [OMIM:613811] synonym: "Cerebellocerebral atrophy, progressive" RELATED [OMIM:613811] +synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in SEPSECS" EXACT [MONDO:design_pattern] synonym: "PCH2D" RELATED [MONDO:Lexical, OMIM:613811] synonym: "pontocerebellar hypoplasia, type 2D" RELATED [MONDO:Lexical, OMIM:613811] synonym: "pontocerebellar hypoplasia, type 2D; PCH2D" RELATED [OMIM:613811] +synonym: "SEPSECS non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern] xref: DOID:0060270 {source="MONDO:equivalentTo"} xref: ICD10:Q04.3 {source="DOID:0060270"} xref: OMIM:613811 {source="DOID:0060270", source="MONDO:equivalentTo"} xref: Orphanet:2524 {source="DOID:0060270", source="OMIM:613811", source="MONDO:subClassOf"} xref: UMLS:C3151140 {source="NCBI:mim2gene_medline", source="OMIM:613811", source="MONDO:equivalentTo"} is_a: MONDO:0016759 {source="MONDOLEX:0013438", source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2 -is_a: MONDO:0020135 {source="MONDO:Redundant", source="OMIM:613811"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0060270", source="MONDO:Redundant", source="OMIM:613811"} ! non-syndromic pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! non-syndromic pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30605 ! SEPSECS relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30605 {source="mim2gene_medgen"} ! SEPSECS @@ -262084,7 +265613,9 @@ synonym: "bile acid synthesis defect, congenital, 3" RELATED [MONDO:Lexical, OMI synonym: "bile acid synthesis defect, congenital, 3; CBAS3" RELATED [OMIM:613812] synonym: "bile acid synthesis defect, congenital, type 3" EXACT [MONDORULE:1, OMIM:613812] synonym: "CBAS3" EXACT [DOID:0111070, MONDO:Lexical, OMIM:613812] +synonym: "congenital bile acid synthesis defect caused by mutation in CYP7B1" EXACT [MONDO:design_pattern] synonym: "congenital bile acid synthesis defect type 3" EXACT [DOID:0111070, MONDORULE:1] +synonym: "CYP7B1 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern] synonym: "oxysterol 7-alpha-hydroxylase deficiency" EXACT [DOID:0111070, Orphanet:79302] xref: DOID:0111070 {source="MONDO:equivalentTo"} xref: ICD10:K76.8 {source="ORDO:79302/attributed", source="Orphanet:79302", source="ORDO:79302/ntbt", source="DOID:0111070"} @@ -262105,6 +265636,8 @@ id: MONDO:0013440 name: autosomal recessive limb-girdle muscular dystrophy type 2P def: "Autosomal recessive limb-girdle muscular dystrophy type 2P (LGMD2P) is a form of limb-girdle muscular dystrophy characterized by slowly-progressive mainly proximal muscle weakness presenting in early childhood (with difficulties walking and climbing stairs) and mild to severe intellectual disability. Additional manifestations reported include microcephaly, mild increase in thigh or calf muscles, and contractures of the ankles." [Orphanet:280333] subset: ordo_disease {source="Orphanet:280333"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DAG1" EXACT [MONDO:design_pattern] +synonym: "DAG1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "LGMD2P" EXACT [DOID:0110293, Orphanet:280333] synonym: "limb-girdle muscular dystrophy type 2P" RELATED [GARD:0012541] synonym: "MDDGC9" EXACT [DOID:0110293, MONDO:Lexical, OMIM:613818] @@ -262173,9 +265706,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25 id: MONDO:0013443 name: Seckel syndrome 5 def: "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP152 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CEP152 Seckel syndrome" EXACT [MONDO:design_pattern] synonym: "SCKL5" EXACT [DOID:0070012, MONDO:Lexical, OMIM:613823] synonym: "Seckel syndrome 5" EXACT [MONDO:Lexical, OMIM:613823] synonym: "Seckel syndrome 5; SCKL5" RELATED [OMIM:613823] +synonym: "Seckel syndrome caused by mutation in CEP152" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 5" EXACT [MONDORULE:1, OMIM:613823] xref: DOID:0070012 {source="MONDO:equivalentTo"} xref: OMIM:613823 {source="DOID:0070012", source="MONDO:equivalentTo"} @@ -262208,8 +265743,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13 id: MONDO:0013445 name: complement component 9 deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C9 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "C9 classic complement early component deficiency" EXACT [MONDO:design_pattern] synonym: "C9 deficiency" RELATED [OMIM:613825] synonym: "C9D" RELATED [MONDO:Lexical, OMIM:613825] +synonym: "classic complement early component deficiency caused by mutation in C9" EXACT [MONDO:design_pattern] synonym: "complement component 9 deficiency" EXACT [MONDO:Lexical, OMIM:613825] synonym: "complement component 9 deficiency; C9D" RELATED [OMIM:613825] xref: DOID:0060303 {source="MONDO:equivalentTo"} @@ -262233,7 +265770,9 @@ subset: gard_rare {source="GARD:0010490"} synonym: "LCA6" EXACT [DOID:0110329, MONDO:Lexical, OMIM:613826] synonym: "Leber congenital amaurosis 6" EXACT [MONDO:Lexical, OMIM:613826] synonym: "Leber congenital amaurosis 6; LCA6" RELATED [OMIM:613826] +synonym: "Leber congenital amaurosis caused by mutation in RPGRIP1" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 6" EXACT [DOID:0110329, MONDORULE:1, OMIM:613826] +synonym: "RPGRIP1 Leber congenital amaurosis" EXACT [MONDO:design_pattern] xref: DOID:0110329 {source="MONDO:equivalentTo"} xref: GARD:0010490 {source="MONDO:equivalentTo"} xref: http://identifiers.org/hgnc/13436 {source="GARD:0010490"} @@ -262251,8 +265790,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10490/leber-c id: MONDO:0013447 name: retinitis pigmentosa 48 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the GUCA1B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GUCA1B retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 48" EXACT [MONDO:Lexical, OMIM:613827] synonym: "retinitis pigmentosa 48; RP48" RELATED [OMIM:613827] +synonym: "retinitis pigmentosa caused by mutation in GUCA1B" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 48" EXACT [DOID:0110382, MONDORULE:2, OMIM:613827] synonym: "RP48" EXACT [DOID:0110382, MONDO:Lexical, OMIM:613827] xref: DOID:0110382 {source="MONDO:equivalentTo"} @@ -262281,9 +265822,11 @@ id: MONDO:0013449 name: Leber congenital amaurosis 7 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRX gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010880"} +synonym: "CRX Leber congenital amaurosis" EXACT [MONDO:design_pattern] synonym: "LCA7" EXACT [DOID:0110333, MONDO:Lexical, OMIM:613829] synonym: "Leber congenital amaurosis 7" EXACT [MONDO:Lexical, OMIM:613829] synonym: "Leber congenital amaurosis 7; LCA7" RELATED [OMIM:613829] +synonym: "Leber congenital amaurosis caused by mutation in CRX" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 7" EXACT [DOID:0110333, MONDORULE:1, OMIM:613829] xref: DOID:0110333 {source="MONDO:equivalentTo"} xref: GARD:0010880 {source="MONDO:equivalentTo"} @@ -262302,11 +265845,13 @@ id: MONDO:0013450 name: congenital stationary night blindness 1D def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the SLC24A1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "congenital stationary night blindness 1D autosomal recessive" EXACT [DOID:0110868] +synonym: "congenital stationary night blindness caused by mutation in SLC24A1" EXACT [MONDO:design_pattern] synonym: "congenital stationary night blindness type 1D" EXACT [DOID:0110868, MONDORULE:4] synonym: "Csnb, complete, autosomal recessive" RELATED [OMIM:613830] synonym: "CSNB1D" EXACT [DOID:0110868, MONDO:Lexical, OMIM:613830] synonym: "night blindness, congenital stationary, type 1D" RELATED [MONDO:Lexical, OMIM:613830] synonym: "night blindness, congenital stationary, type 1D; CSNB1D" RELATED [OMIM:613830] +synonym: "SLC24A1 congenital stationary night blindness" EXACT [MONDO:design_pattern] xref: DOID:0110868 {source="MONDO:equivalentTo"} xref: OMIM:613830 {source="DOID:0110868", source="MONDO:equivalentTo"} xref: UMLS:C3151193 {source="OMIM:613830", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -262327,6 +265872,8 @@ synonym: "EPM5" EXACT [MONDO:Lexical, OMIM:613832, Orphanet:402082] synonym: "MOVED to {607459}" RELATED [OMIM:613832] synonym: "Moved to {607459}" RELATED [OMIM:613832] synonym: "PME type 5" EXACT [Orphanet:402082] +synonym: "PRICKLE2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern] +synonym: "progressive myoclonic epilepsy caused by mutation in PRICKLE2" EXACT [MONDO:design_pattern] synonym: "progressive myoclonus epilepsy type 5" EXACT [Orphanet:402082] xref: ICD10:G40.3 {source="Orphanet:402082", source="ORDO:402082/attributed", source="ORDO:402082/ntbt"} xref: OMIM:613832 {source="Orphanet:402082", source="MONDO:equivalentTo", source="ORDO:402082/e"} @@ -262368,9 +265915,11 @@ id: MONDO:0013453 name: Leber congenital amaurosis 8 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the CRB1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010881"} +synonym: "CRB1 Leber congenital amaurosis" EXACT [MONDO:design_pattern] synonym: "LCA8" EXACT [DOID:0110079, MONDO:Lexical, OMIM:613835] synonym: "Leber congenital amaurosis 8" EXACT [MONDO:Lexical, OMIM:613835] synonym: "Leber congenital amaurosis 8; LCA8" RELATED [OMIM:613835] +synonym: "Leber congenital amaurosis caused by mutation in CRB1" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 8" EXACT [DOID:0110079, MONDORULE:1, OMIM:613835] xref: DOID:0110079 {source="MONDO:equivalentTo"} xref: GARD:0010881 {source="MONDO:equivalentTo"} @@ -262389,9 +265938,11 @@ name: Leber congenital amaurosis 11 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the IMPDH1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010488"} synonym: "amaurosis congenita of Leber, type 11" RELATED [GARD:0010488] +synonym: "IMPDH1 Leber congenital amaurosis" EXACT [MONDO:design_pattern] synonym: "LCA11" EXACT [DOID:0110216, MONDO:Lexical, OMIM:613837] synonym: "Leber congenital amaurosis 11" EXACT [MONDO:Lexical, OMIM:613837] synonym: "Leber congenital amaurosis 11; LCA11" RELATED [OMIM:613837] +synonym: "Leber congenital amaurosis caused by mutation in IMPDH1" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 11" EXACT [DOID:0110216, MONDORULE:2, OMIM:613837] xref: DOID:0110216 {source="MONDO:equivalentTo"} xref: GARD:0010488 {source="MONDO:equivalentTo"} @@ -262415,7 +265966,9 @@ synonym: "cardiomyopathy, familial hypertrophic, 16" RELATED [MONDO:Lexical, OMI synonym: "cardiomyopathy, familial hypertrophic, 16; CMH16" RELATED [OMIM:613838] synonym: "cardiomyopathy, familial hypertrophic, type 16" EXACT [MONDORULE:2, OMIM:613838] synonym: "CMH16" EXACT [DOID:0110322, MONDO:Lexical, OMIM:613838] +synonym: "hypertrophic cardiomyopathy caused by mutation in MYOZ2" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 16" EXACT [DOID:0110322, MONDORULE:2] +synonym: "MYOZ2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110322 {source="MONDO:equivalentTo"} xref: OMIM:613838 {source="DOID:0110322", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:613838"} @@ -262457,8 +266010,10 @@ subset: gard_rare {source="GARD:0010884"} synonym: "LCA15" EXACT [DOID:0110189, MONDO:Lexical, OMIM:613843] synonym: "Leber congenital amaurosis 15" EXACT [MONDO:Lexical, OMIM:613843] synonym: "Leber congenital amaurosis 15; LCA15" RELATED [OMIM:613843] +synonym: "Leber congenital amaurosis caused by mutation in TULP1" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 15" EXACT [DOID:0110189, MONDORULE:2, OMIM:613843] synonym: "retinitis pigmentosa, juvenile, Tulp1-Related" RELATED [OMIM:613843] +synonym: "TULP1 Leber congenital amaurosis" EXACT [MONDO:design_pattern] xref: DOID:0110189 {source="MONDO:equivalentTo"} xref: GARD:0010884 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110189", source="MONDO:relatedTo"} @@ -262500,10 +266055,12 @@ synonym: "OI type 10" RELATED [GARD:0012874] synonym: "OI type X" RELATED [GARD:0012874] synonym: "OI, type 10" RELATED [OMIM:613848] synonym: "OI10" EXACT [DOID:0110346, MONDO:Lexical, OMIM:613848] +synonym: "osteogenesis imperfecta caused by mutation in SERPINH1" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type X" EXACT [DOID:0110346] synonym: "osteogenesis imperfecta, type 10" RELATED [OMIM:613848] synonym: "osteogenesis imperfecta, type X" RELATED [MONDO:Lexical, OMIM:613848] synonym: "osteogenesis imperfecta, type X; OI10" RELATED [OMIM:613848] +synonym: "SERPINH1 osteogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110346 {source="MONDO:equivalentTo"} xref: GARD:0012874 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:Q78.0 {source="DOID:0110346", source="MONDO:subClassOf"} @@ -262521,10 +266078,12 @@ name: osteogenesis imperfecta type 12 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SP7 gene." [MONDO:patterns/disease_series_by_gene] synonym: "OI, type 12" RELATED [OMIM:613849] synonym: "OI12" EXACT [DOID:0110348, MONDO:Lexical, OMIM:613849] +synonym: "osteogenesis imperfecta caused by mutation in SP7" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type XII" EXACT [DOID:0110348] synonym: "osteogenesis imperfecta, type 12" RELATED [OMIM:613849] synonym: "osteogenesis imperfecta, type XII" RELATED [MONDO:Lexical, OMIM:613849] synonym: "osteogenesis imperfecta, type XII; OI12" RELATED [OMIM:613849] +synonym: "SP7 osteogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110348 {source="MONDO:equivalentTo"} xref: ICD10:Q78.0 {source="DOID:0110348", source="MONDO:subClassOf"} xref: OMIM:613849 {source="DOID:0110348", source="MONDO:equivalentTo"} @@ -262568,8 +266127,10 @@ def: "Any dextro-looped transposition of the great arteries in which the cause o synonym: "CHTD6" RELATED [OMIM:613854] synonym: "congenital heart defects, multiple types, 6" RELATED [OMIM:613854] synonym: "congenital heart defects, multiple types, 6; CHTD6" RELATED [OMIM:613854] +synonym: "dextro-looped transposition of the great arteries caused by mutation in GDF1" EXACT [MONDO:design_pattern] synonym: "dextro-looped transposition of the great arteries type 3" EXACT [DOID:0060772, MONDORULE:1] synonym: "DTGA3" EXACT [DOID:0060772, MONDO:Lexical, OMIM:613854] +synonym: "GDF1 dextro-looped transposition of the great arteries" EXACT [MONDO:design_pattern] synonym: "transposition of the great arteries, dextro-looped 3" RELATED [MONDO:Lexical, OMIM:613854] synonym: "transposition of the great arteries, dextro-looped 3, formerly" RELATED [OMIM:613854] synonym: "transposition of the great arteries, dextro-looped 3; DTGA3" RELATED [OMIM:613854] @@ -262590,9 +266151,11 @@ id: MONDO:0013464 name: episodic ataxia type 5 def: "Episodic ataxia type 5 (EA5) is an extremely rare form of Hereditary episodic ataxia (see this term) characterized by recurrent episodes of vertigo and ataxia lasting several hours." [Orphanet:211067] subset: ordo_disease {source="Orphanet:211067"} +synonym: "CACNB4 hereditary episodic ataxia" EXACT [MONDO:design_pattern] synonym: "EA5" RELATED [MONDO:Lexical, OMIM:613855] synonym: "episodic ataxia, type 5" RELATED [MONDO:Lexical, OMIM:613855] synonym: "episodic ataxia, type 5; EA5" RELATED [OMIM:613855] +synonym: "hereditary episodic ataxia caused by mutation in CACNB4" EXACT [MONDO:design_pattern] xref: DOID:0050993 {source="MONDO:equivalentTo"} xref: ICD10:G11.8 {source="ORDO:211067/attributed", source="Orphanet:211067", source="ORDO:211067/ntbt"} xref: MESH:C566601 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -262600,7 +266163,7 @@ xref: OMIM:613855 {source="ORDO:211067/e", source="DOID:0050993", source="Orphan xref: Orphanet:211067 {source="OMIM:613855", source="MONDO:equivalentTo"} xref: SCTID:718756005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1866039 {source="NCBI:mim2gene_medline", source="OMIM:613855", source="Orphanet:211067", source="MONDO:equivalentTo"} -is_a: MONDO:0016227 {source="OMIM:613855", source="Orphanet:211067", source="linkedlifedata"} ! hereditary episodic ataxia +is_a: MONDO:0016227 {source="DOID:0050993", source="OMIM:613855", source="Orphanet:211067", source="linkedlifedata"} ! hereditary episodic ataxia intersection_of: MONDO:0016227 ! hereditary episodic ataxia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1404 ! CACNB4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1404 {source="mim2gene_medgen"} ! CACNB4 @@ -262613,7 +266176,9 @@ def: "Any achromatopsia in which the cause of the disease is a mutation in the G synonym: "ACHM4" EXACT [DOID:0110010, MONDO:Lexical, OMIM:613856] synonym: "achromatopsia 4" EXACT [MONDO:Lexical, OMIM:613856] synonym: "achromatopsia 4; ACHM4" RELATED [OMIM:613856] +synonym: "achromatopsia caused by mutation in GNAT2" EXACT [MONDO:design_pattern] synonym: "achromatopsia type 4" EXACT [DOID:0110010, MONDORULE:1, OMIM:613856] +synonym: "GNAT2 achromatopsia" EXACT [MONDO:design_pattern] xref: DOID:0110010 {source="MONDO:equivalentTo"} xref: MESH:C564206 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613856 {source="DOID:0110010", source="MONDO:equivalentTo"} @@ -262626,7 +266191,7 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/43 [Term] id: MONDO:0013466 -name: OFC13 +name: orofacial cleft 13 synonym: "OFC13" EXACT [MONDO:Lexical, OMIM:613857] synonym: "orofacial cleft 13" RELATED [MONDO:Lexical, OMIM:613857] synonym: "orofacial cleft 13; OFC13" RELATED [OMIM:613857] @@ -262634,7 +266199,7 @@ xref: OMIM:613857 {source="MONDO:equivalentTo"} xref: Orphanet:1991 {source="OMIM:613857", source="MONDO:subClassOf"} xref: UMLS:C3151222 {source="NCBI:mim2gene_medline", source="OMIM:613857", source="MONDO:equivalentTo"} is_a: MONDO:0000358 {source="DC-OMIM:613857", source="OMIM:613857"} ! orofacial cleft -is_a: MONDO:0003847 ! inherited genetic disease +relationship: has_modifier MONDO:0021128 ! has an isolated presentation property_value: confidence "1.7876687750502525" xsd:double [Term] @@ -262659,8 +266224,10 @@ id: MONDO:0013468 name: retinitis pigmentosa 59 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the DHDDS gene." [MONDO:patterns/disease_series_by_gene] synonym: "congenital disorder of glycosylation, type Ibb" RELATED [OMIM:613861] +synonym: "DHDDS retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 59" EXACT [MONDO:Lexical, OMIM:613861] synonym: "retinitis pigmentosa 59; RP59" RELATED [OMIM:613861] +synonym: "retinitis pigmentosa caused by mutation in DHDDS" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 59" EXACT [DOID:0110352, MONDORULE:2, OMIM:613861] synonym: "RP59" EXACT [DOID:0110352, MONDO:Lexical, OMIM:613861] xref: DOID:0110352 {source="MONDO:equivalentTo"} @@ -262676,8 +266243,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 id: MONDO:0013469 name: retinitis pigmentosa 38 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MERTK gene." [MONDO:patterns/disease_series_by_gene] +synonym: "MERTK retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 38" EXACT [MONDO:Lexical, OMIM:613862] synonym: "retinitis pigmentosa 38; RP38" RELATED [OMIM:613862] +synonym: "retinitis pigmentosa caused by mutation in MERTK" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 38" EXACT [DOID:0110367, MONDORULE:2, OMIM:613862] synonym: "Rod-cone dystrophy, childhood-onset" RELATED [OMIM:613862] synonym: "RP38" EXACT [DOID:0110367, MONDO:Lexical, OMIM:613862] @@ -262697,8 +266266,10 @@ def: "Any generalized epilepsy with febrile seizures plus in which the cause of synonym: "febrile seizures, familial, 3B" RELATED [OMIM:613863] synonym: "Gefs+, type 7" RELATED [OMIM:613863] synonym: "GEFSP7" RELATED [MONDO:Lexical, OMIM:613863] +synonym: "generalized epilepsy with febrile seizures plus caused by mutation in SCN9A" EXACT [MONDO:design_pattern] synonym: "generalized epilepsy with febrile seizures plus, type 7" EXACT [MONDO:Lexical, OMIM:613863] synonym: "generalized epilepsy with febrile seizures plus, type 7; GEFSP7" RELATED [OMIM:613863] +synonym: "SCN9A generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern] xref: MESH:C567827 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:613863 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:613863", source="MONDO:subClassOf"} @@ -262715,11 +266286,13 @@ id: MONDO:0013471 name: autosomal recessive nonsyndromic deafness 61 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SLC26A5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 61" EXACT [DOID:0110513] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SLC26A5" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 61" EXACT [DOID:0110513, MONDORULE:2] synonym: "deafness, autosomal recessive 61" RELATED [MONDO:Lexical, OMIM:613865] synonym: "deafness, autosomal recessive 61; DFNB61" RELATED [OMIM:613865] synonym: "deafness, autosomal recessive type 61" EXACT [MONDORULE:2, OMIM:613865] synonym: "DFNB61" EXACT [DOID:0110513, MONDO:Lexical, OMIM:613865] +synonym: "SLC26A5 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110513 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110513"} xref: OMIM:613865 {source="DOID:0110513", source="MONDO:equivalentTo"} @@ -262768,7 +266341,9 @@ synonym: "cardiomyopathy, familial hypertrophic, 17" RELATED [MONDO:Lexical, OMI synonym: "cardiomyopathy, familial hypertrophic, 17; CMH17" RELATED [OMIM:613873] synonym: "cardiomyopathy, familial hypertrophic, type 17" EXACT [MONDORULE:2, OMIM:613873] synonym: "CMH17" EXACT [DOID:0110323, MONDO:Lexical, OMIM:613873] +synonym: "hypertrophic cardiomyopathy caused by mutation in JPH2" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 17" EXACT [DOID:0110323, MONDORULE:2] +synonym: "JPH2 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110323 {source="MONDO:equivalentTo"} xref: OMIM:613873 {source="DOID:0110323", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:613873"} @@ -262789,7 +266364,9 @@ synonym: "cardiomyopathy, familial hypertrophic, 18" RELATED [MONDO:Lexical, OMI synonym: "cardiomyopathy, familial hypertrophic, 18; CMH18" RELATED [OMIM:613874] synonym: "cardiomyopathy, familial hypertrophic, type 18" EXACT [MONDORULE:2, OMIM:613874] synonym: "CMH18" EXACT [DOID:0110324, MONDO:Lexical, OMIM:613874] +synonym: "hypertrophic cardiomyopathy caused by mutation in PLN" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 18" EXACT [DOID:0110324, MONDORULE:2] +synonym: "PLN hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110324 {source="MONDO:equivalentTo"} xref: OMIM:613874 {source="DOID:0110324", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:613874"} @@ -262805,11 +266382,13 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0013476 name: hypertrophic cardiomyopathy 19 def: "Any hypertrophic cardiomyopathy in which the cause of the disease is a mutation in the CALR3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CALR3 hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "cardiomyopathy familial hypertrophic 19" EXACT [DOID:0110325] synonym: "cardiomyopathy, familial hypertrophic, 19" RELATED [MONDO:Lexical, OMIM:613875] synonym: "cardiomyopathy, familial hypertrophic, 19; CMH19" RELATED [OMIM:613875] synonym: "cardiomyopathy, familial hypertrophic, type 19" EXACT [MONDORULE:2, OMIM:613875] synonym: "CMH19" EXACT [DOID:0110325, MONDO:Lexical, OMIM:613875] +synonym: "hypertrophic cardiomyopathy caused by mutation in CALR3" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 19" EXACT [DOID:0110325, MONDORULE:2] xref: DOID:0110325 {source="MONDO:equivalentTo"} xref: OMIM:613875 {source="DOID:0110325", source="MONDO:equivalentTo"} @@ -262831,7 +266410,9 @@ synonym: "cardiomyopathy, familial hypertrophic, 20" RELATED [MONDO:Lexical, OMI synonym: "cardiomyopathy, familial hypertrophic, 20; CMH20" RELATED [OMIM:613876] synonym: "cardiomyopathy, familial hypertrophic, type 20" EXACT [MONDORULE:2, OMIM:613876] synonym: "CMH20" EXACT [DOID:0110326, MONDO:Lexical, OMIM:613876] +synonym: "hypertrophic cardiomyopathy caused by mutation in NEXN" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 20" EXACT [DOID:0110326, MONDORULE:2] +synonym: "NEXN hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110326 {source="MONDO:equivalentTo"} xref: OMIM:613876 {source="DOID:0110326", source="MONDO:equivalentTo"} xref: Orphanet:155 {source="OMIM:613876"} @@ -262868,11 +266449,13 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013479 name: dilated cardiomyopathy 1HH def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the BAG3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BAG3 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "cardiomyopathy, dilated, 1HH" RELATED [MONDO:Lexical, OMIM:613881] synonym: "cardiomyopathy, dilated, 1HH; CMD1HH" RELATED [OMIM:613881] synonym: "cardiomyopathy, dilated, type 1Hh" EXACT [MONDORULE:9, OMIM:613881] synonym: "CMD1HH" EXACT [DOID:0110448, MONDO:Lexical, OMIM:613881] synonym: "dilated cardiomyopathy type 1HH" EXACT [DOID:0110448, MONDORULE:9] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in BAG3" EXACT [MONDO:design_pattern] xref: DOID:0110448 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110448", source="MONDO:subClassOf"} xref: OMIM:613881 {source="DOID:0110448", source="MONDO:equivalentTo"} @@ -262900,7 +266483,7 @@ xref: ICD10:E83.4 {source="DOID:0060884"} xref: OMIM:613882 {source="DOID:0060884", source="MONDO:equivalentTo"} xref: Orphanet:34527 {source="OMIM:613882", source="MONDO:subClassOf", source="DOID:0060884"} xref: UMLS:C3151295 {source="OMIM:613882", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018100 {source="MONDO:Redundant", source="OMIM:613882"} ! primary hypomagnesemia +is_a: MONDO:0018100 {source="DOID:0060884", source="MONDO:Redundant", source="OMIM:613882"} ! primary hypomagnesemia is_a: MONDO:0018101 {source="ORDO:34527/btnt"} ! familial primary hypomagnesemia with normocalciuria and normocalcemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/103 {source="mim2gene_medgen"} ! CNNM2 property_value: confidence "5.000000000000001" xsd:double @@ -262937,10 +266520,12 @@ id: MONDO:0013482 name: Meckel syndrome, type 8 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TCTN2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Meckel syndrome 8" RELATED [DOID:0070122] +synonym: "Meckel syndrome caused by mutation in TCTN2" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 8" EXACT [MONDO:Lexical, OMIM:613885] synonym: "MECKEL syndrome, type 8; MKS8" RELATED [OMIM:613885] synonym: "Meckel-Gruber syndrome, type 8" EXACT [DOID:0070122] synonym: "MKS8" EXACT [DOID:0070122, MONDO:Lexical, OMIM:613885] +synonym: "TCTN2 Meckel syndrome" EXACT [MONDO:design_pattern] xref: DOID:0070122 {source="MONDO:equivalentTo"} xref: ICD10:Q61.9 {source="DOID:0070122"} xref: OMIM:613885 {source="DOID:0070122", source="MONDO:equivalentTo"} @@ -263064,11 +266649,13 @@ name: autosomal recessive nonsyndromic deafness 89 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the KARS gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "autosomal recessive deafness 89" EXACT [DOID:0110534] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in KARS" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 89" EXACT [DOID:0110534, MONDORULE:2] synonym: "deafness, autosomal recessive 89" RELATED [MONDO:Lexical, OMIM:613916] synonym: "deafness, autosomal recessive 89; DFNB89" RELATED [OMIM:613916] synonym: "deafness, autosomal recessive type 89" EXACT [MONDORULE:2, OMIM:613916] synonym: "DFNB89" EXACT [DOID:0110534, MONDO:Lexical, OMIM:613916] +synonym: "KARS autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110534 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110534"} xref: OMIM:613916 {source="DOID:0110534", source="MONDO:equivalentTo"} @@ -263218,11 +266805,13 @@ property_value: confidence "4.999999999999998" xsd:double id: MONDO:0013499 name: Fanconi anemia complementation group P def: "Any Fanconi anemia in which the cause of the disease is a mutation in the SLX4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi anemia caused by mutation in SLX4" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type P" EXACT [DOID:0111092, MONDORULE:1] synonym: "FANCONI ANEMIA, complementation group P" RELATED [MONDO:Lexical, OMIM:613951] synonym: "FANCONI ANEMIA, complementation group P; FANCP" RELATED [OMIM:613951] synonym: "Fanconi Anemia, complementation group type P" EXACT [MONDORULE:1, OMIM:613951] synonym: "FANCP" EXACT [DOID:0111092, MONDO:Lexical, OMIM:613951] +synonym: "SLX4 Fanconi anemia" EXACT [MONDO:design_pattern] xref: DOID:0111092 {source="MONDO:equivalentTo"} xref: OMIM:613951 {source="DOID:0111092", source="MONDO:equivalentTo"} xref: UMLS:C1428293 {source="OMIM:613951"} @@ -263261,13 +266850,15 @@ synonym: "ALS14" EXACT [DOID:0060205, MONDO:Lexical, OMIM:613954] synonym: "amyotrophic lateral sclerosis 14" EXACT [DOID:0060205, OMIM:613954] synonym: "amyotrophic lateral sclerosis 14 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:613954] synonym: "amyotrophic lateral sclerosis 14 with or without frontotemporal dementia; ALS14" RELATED [OMIM:613954] +synonym: "amyotrophic lateral sclerosis caused by mutation in VCP" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis, with or without frontotemporal dementia" EXACT [DOID:0060205, OMIM:613954] +synonym: "VCP amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0060205 {source="MONDO:equivalentTo"} xref: OMIM:613954 {source="DOID:0060205", source="MONDO:equivalentTo"} xref: Orphanet:275872 {source="OMIM:613954", source="MONDO:subClassOf"} xref: Orphanet:803 {source="OMIM:613954", source="MONDO:subClassOf"} xref: UMLS:C3151403 {source="NCBI:mim2gene_medline", source="OMIM:613954", source="MONDO:equivalentTo"} -is_a: MONDO:0004976 {source="MONDO:Redundant", source="OMIM:613954"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0060205", source="MONDO:Redundant", source="OMIM:613954"} ! amyotrophic lateral sclerosis is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis is_a: MONDO:0017161 {source="ORDO:275872/btnt"} ! frontotemporal dementia with motor neuron disease intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis @@ -263302,6 +266893,8 @@ synonym: "candidiasis, familial chronic mucocutaneous, autosomal dominant" RELAT synonym: "candidiasis, familial, 6" EXACT [MONDO:Lexical, OMIM:613956] synonym: "candidiasis, familial, 6; CANDF6" RELATED [OMIM:613956] synonym: "candidiasis, familial, type 6" EXACT [MONDORULE:1, OMIM:613956] +synonym: "familial chronic mucocutaneous candidiasis caused by mutation in IL17F" EXACT [MONDO:design_pattern] +synonym: "IL17F familial chronic mucocutaneous candidiasis" EXACT [MONDO:design_pattern] xref: OMIM:613956 {source="MONDO:equivalentTo"} xref: UMLS:C3151405 {source="NCBI:mim2gene_medline", source="OMIM:613956", source="MONDO:equivalentTo"} is_a: MONDO:0015279 {source="MONDO:0013503/inferred", source="MONDO:Redundant", source="MONDOLEX:0013503/inferred", source="ORDO:1334/btnt"} ! chronic mucocutaneous candidiasis (disease) @@ -263315,6 +266908,8 @@ property_value: confidence "2.323076923076922" xsd:double id: MONDO:0013504 name: spermatogenic failure 8 def: "Any azoospermia in which the cause of the disease is a mutation in the NR5A1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "azoospermia caused by mutation in NR5A1" EXACT [MONDO:design_pattern] +synonym: "NR5A1 azoospermia" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 8" EXACT [MONDO:Lexical, OMIM:613957] synonym: "spermatogenic failure 8; SPGF8" RELATED [OMIM:613957] synonym: "spermatogenic failure type 8" EXACT [MONDORULE:1, OMIM:613957] @@ -263333,6 +266928,8 @@ property_value: confidence "0.18928571428571428" xsd:double id: MONDO:0013505 name: spermatogenic failure 9 def: "Any azoospermia in which the cause of the disease is a mutation in the DPY19L2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "azoospermia caused by mutation in DPY19L2" EXACT [MONDO:design_pattern] +synonym: "DPY19L2 azoospermia" EXACT [MONDO:design_pattern] synonym: "globozoospermia, complete" RELATED [OMIM:613958] synonym: "globozoospermia, total" RELATED [OMIM:613958] synonym: "spermatogenic failure 9" EXACT [MONDO:Lexical, OMIM:613958] @@ -263399,6 +266996,8 @@ name: intellectual disability, autosomal dominant 6 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN2B gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 6" EXACT [DOID:0070036] synonym: "autosomal dominant non-syndromic intellectual disability 6" RELATED [DOID:0070036] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN2B" EXACT [MONDO:design_pattern] +synonym: "GRIN2B autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 6" RELATED [MONDO:Lexical, OMIM:613970] synonym: "mental retardation, autosomal dominant 6, with or without seizures" RELATED [OMIM:613970] synonym: "mental retardation, autosomal dominant 6, with OR without seizures; MRD6" RELATED [OMIM:613970] @@ -263487,6 +267086,8 @@ synonym: "ATFB9" RELATED [MONDO:Lexical, OMIM:613980] synonym: "atrial fibrillation, familial, 9" EXACT [MONDO:Lexical, OMIM:613980] synonym: "atrial fibrillation, familial, 9; ATFB9" RELATED [OMIM:613980] synonym: "atrial fibrillation, familial, type 9" EXACT [MONDORULE:1, OMIM:613980] +synonym: "familial atrial fibrillation caused by mutation in KCNJ2" EXACT [MONDO:design_pattern] +synonym: "KCNJ2 familial atrial fibrillation" EXACT [MONDO:design_pattern] xref: OMIM:613980 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="MONDO:subClassOf", source="OMIM:613980"} xref: UMLS:C3151431 {source="NCBI:mim2gene_medline", source="OMIM:613980", source="MONDO:equivalentTo"} @@ -263502,15 +267103,17 @@ def: "Any hypotrichosis in which the cause of the disease is a mutation in the K synonym: "Htss2" EXACT [DOID:0110700] synonym: "hypotrichosis 3" EXACT [MONDO:Lexical, OMIM:613981] synonym: "hypotrichosis 3; HYPT3" RELATED [OMIM:613981] +synonym: "hypotrichosis caused by mutation in KRT74" EXACT [MONDO:design_pattern] synonym: "hypotrichosis simplex of the scalp 2" EXACT [DOID:0110700, OMIM:613981] synonym: "hypotrichosis type 3" EXACT [DOID:0110700, MONDORULE:1, OMIM:613981] synonym: "HYPT3" RELATED [MONDO:Lexical, OMIM:613981] synonym: "Hypt3" EXACT [DOID:0110700] +synonym: "KRT74 hypotrichosis" EXACT [MONDO:design_pattern] xref: DOID:0110700 {source="MONDO:equivalentTo"} xref: OMIM:613981 {source="DOID:0110700", source="MONDO:equivalentTo"} xref: Orphanet:90368 {source="OMIM:613981", source="MONDO:subClassOf"} xref: UMLS:C3151432 {source="OMIM:613981", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003037 {source="MONDO:Redundant", source="OMIM:613981"} ! hypotrichosis +is_a: MONDO:0003037 {source="DOID:0110700", source="MONDO:Redundant", source="OMIM:613981"} ! hypotrichosis is_a: MONDO:0019575 {source="ORDO:90368/btnt"} ! hypotrichosis simplex of the scalp intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28929 ! KRT74 @@ -263524,11 +267127,13 @@ def: "Any osteogenesis imperfecta in which the cause of the disease is a mutatio synonym: "OI type 6" RELATED [GARD:0008700] synonym: "OI type VI" RELATED [GARD:0008700] synonym: "OI6" EXACT [DOID:0110350, MONDO:Lexical, OMIM:613982] +synonym: "osteogenesis imperfecta caused by mutation in SERPINF1" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type" RELATED [GARD:0008700] synonym: "osteogenesis imperfecta type VI" EXACT [DOID:0110350] synonym: "osteogenesis imperfecta, type 6" RELATED [OMIM:613982] synonym: "osteogenesis imperfecta, type VI" RELATED [MONDO:Lexical, OMIM:613982] synonym: "osteogenesis imperfecta, type VI; OI6" RELATED [OMIM:613982] +synonym: "SERPINF1 osteogenesis imperfecta" EXACT [MONDO:design_pattern] synonym: "SERPINFI- related osteogenesis imperfecta" RELATED [GARD:0008700] xref: DOID:0110350 {source="MONDO:equivalentTo"} xref: GARD:0008700 {source="OMIM-shared", source="MONDO:equivalentTo"} @@ -263547,8 +267152,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/88 id: MONDO:0013516 name: retinitis pigmentosa 60 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "PRPF6 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 60" EXACT [MONDO:Lexical, OMIM:613983] synonym: "retinitis pigmentosa 60; RP60" RELATED [OMIM:613983] +synonym: "retinitis pigmentosa caused by mutation in PRPF6" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 60" EXACT [DOID:0110411, MONDORULE:2, OMIM:613983] synonym: "RP60" EXACT [DOID:0110411, MONDO:Lexical, OMIM:613983] xref: DOID:0110411 {source="MONDO:equivalentTo"} @@ -263579,7 +267186,9 @@ property_value: confidence "4.714285714285714" xsd:double id: MONDO:0013518 name: pituitary hormone deficiency, combined, 6 def: "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the OTX2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in OTX2" EXACT [MONDO:design_pattern] synonym: "CPHD6" RELATED [MONDO:Lexical, OMIM:613986] +synonym: "OTX2 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern] synonym: "pituitary hormone deficiency, combined, 6" EXACT [MONDO:Lexical, OMIM:613986] synonym: "pituitary hormone deficiency, combined, 6; CPHD6" RELATED [OMIM:613986] synonym: "pituitary hormone deficiency, combined, type 6" EXACT [MONDORULE:1, OMIM:613986] @@ -263724,7 +267333,9 @@ synonym: "ciliary dyskinesia, primary, 16" RELATED [MONDO:Lexical, OMIM:614017] synonym: "ciliary dyskinesia, primary, 16, with or without situs inversus" RELATED [OMIM:614017] synonym: "ciliary dyskinesia, primary, 16; CILD16" RELATED [OMIM:614017] synonym: "ciliary dyskinesia, primary, type 16" EXACT [MONDORULE:2, OMIM:614017] +synonym: "DNAL1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 16 with or without situs inversus" EXACT [DOID:0110613] +synonym: "primary ciliary dyskinesia caused by mutation in DNAL1" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 16" EXACT [DOID:0110613, MONDORULE:2] xref: DOID:0110613 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110613"} @@ -263744,9 +267355,11 @@ synonym: "epilepsy, progressive myoclonic, 6" RELATED [MONDO:Lexical, OMIM:61401 synonym: "epilepsy, progressive myoclonic, 6; EPM6" RELATED [OMIM:614018] synonym: "epilepsy, progressive myoclonic, type 6" EXACT [MONDORULE:1, OMIM:614018] synonym: "EPM6" EXACT [MONDO:Lexical, OMIM:614018, Orphanet:280620] +synonym: "GOSR2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern] synonym: "GOSR2-related progressive myoclonus ataxia" EXACT [Orphanet:280620] synonym: "North Sea progressive myoclonus epilepsy" EXACT [Orphanet:280620] synonym: "PME type 6" EXACT [Orphanet:280620] +synonym: "progressive myoclonic epilepsy caused by mutation in GOSR2" EXACT [MONDO:design_pattern] synonym: "progressive myoclonus epilepsy type 6" EXACT [Orphanet:280620] xref: GARD:0003872 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G40.3 {source="ORDO:280620/ntbt", source="Orphanet:280620", source="ORDO:280620/attributed"} @@ -263783,10 +267396,12 @@ property_value: confidence "32.666666666666785" xsd:double id: MONDO:0013528 name: intellectual disability, autosomal recessive 14 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TECR gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TECR" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 14" RELATED [MONDO:Lexical, OMIM:614020] synonym: "mental retardation, autosomal recessive 14; MRT14" RELATED [OMIM:614020] synonym: "mental retardation, autosomal recessive type 14" EXACT [MONDORULE:2, OMIM:614020] synonym: "MRT14" RELATED [MONDO:Lexical, OMIM:614020] +synonym: "TECR autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] xref: OMIM:614020 {source="MONDO:equivalentTo"} xref: UMLS:C3151462 {source="NCBI:mim2gene_medline", source="OMIM:614020", source="MONDO:equivalentTo"} is_a: MONDO:0019502 {source="DC-OMIM:614020", source="OMIM:614020"} ! autosomal recessive non-syndromic intellectual disability @@ -263799,9 +267414,11 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0013529 name: catecholaminergic polymorphic ventricular tachycardia 3 def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TECRL gene." [MONDO:patterns/disease_series_by_gene] +synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TECRL" EXACT [MONDO:design_pattern] synonym: "catecholaminergic polymorphic ventricular tachycardia type 3" EXACT [DOID:0060677, MONDORULE:1] synonym: "CPVT3" RELATED [MONDO:Lexical, OMIM:614021] synonym: "CVPT3" EXACT [DOID:0060677] +synonym: "TECRL catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern] synonym: "ventricular tachycardia, catecholaminergic polymorphic, 3" RELATED [MONDO:Lexical, OMIM:614021] synonym: "ventricular tachycardia, catecholaminergic polymorphic, 3; CPVT3" RELATED [OMIM:614021] xref: DOID:0060677 {source="MONDO:equivalentTo"} @@ -263822,6 +267439,8 @@ synonym: "ATFB10" RELATED [MONDO:Lexical, OMIM:614022] synonym: "atrial fibrillation, familial, 10" EXACT [MONDO:Lexical, OMIM:614022] synonym: "atrial fibrillation, familial, 10; ATFB10" RELATED [OMIM:614022] synonym: "atrial fibrillation, familial, type 10" EXACT [MONDORULE:2, OMIM:614022] +synonym: "familial atrial fibrillation caused by mutation in SCN5A" EXACT [MONDO:design_pattern] +synonym: "SCN5A familial atrial fibrillation" EXACT [MONDO:design_pattern] xref: OMIM:614022 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="MONDO:subClassOf", source="OMIM:614022"} xref: UMLS:C3151464 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614022"} @@ -263885,8 +267504,8 @@ property_value: confidence "2.692307692307692" xsd:double [Term] id: MONDO:0013534 -name: apolipoprotein c-Iii deficiency -synonym: "apolipoprotein c-Iii deficiency" EXACT [OMIM:614028] +name: apolipoprotein c-III deficiency +synonym: "apolipoprotein c-III deficiency" EXACT [OMIM:614028] synonym: "hyperalphalipoproteinemia 2" RELATED [OMIM:614028] xref: MESH:C566270 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:614028 {source="MONDO:equivalentTo"} @@ -263925,7 +267544,9 @@ id: MONDO:0013537 name: autosomal recessive nonsyndromic deafness 29 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLDN14 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 29" EXACT [DOID:0110487] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CLDN14" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 29" EXACT [DOID:0110487, MONDORULE:2] +synonym: "CLDN14 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal recessive 29" RELATED [MONDO:Lexical, OMIM:614035] synonym: "deafness, autosomal recessive 29; DFNB29" RELATED [OMIM:614035] synonym: "deafness, autosomal recessive type 29" EXACT [MONDORULE:2, OMIM:614035] @@ -264002,11 +267623,13 @@ name: complex cortical dysplasia with other brain malformations 1 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB3 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:300570"} synonym: "CDCBM1" EXACT [DOID:0090137, MONDO:Lexical, OMIM:614039] +synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB3" EXACT [MONDO:design_pattern] synonym: "complex cortical dysplasia with other brain malformations type 1" EXACT [DOID:0090137, MONDORULE:1] synonym: "cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation" EXACT [DOID:0090137] synonym: "cortical dysplasia, complex, with other brain malformations 1" RELATED [MONDO:Lexical, OMIM:614039] synonym: "cortical dysplasia, complex, with other brain malformations 1; CDCBM1" RELATED [OMIM:614039] synonym: "cortical dysplasia, Complex, with Other brain malformations type 1" EXACT [MONDORULE:1, OMIM:614039] +synonym: "TUBB3 complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern] xref: DOID:0090137 {source="MONDO:equivalentTo"} xref: GARD:0013032 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:Q04.3 {source="ORDO:300570/ntbt", source="DOID:0090137", source="Orphanet:300570", source="ORDO:300570/attributed"} @@ -264026,8 +267649,10 @@ property_value: confidence "13.769230769230768" xsd:double id: MONDO:0013542 name: Moyamoya disease 5 def: "Any Moyamoya disease in which the cause of the disease is a mutation in the ACTA2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ACTA2 Moyamoya disease" EXACT [MONDO:design_pattern] synonym: "Moyamoya disease 5" EXACT [MONDO:Lexical, OMIM:614042] synonym: "Moyamoya disease 5; MYMY5" RELATED [OMIM:614042] +synonym: "Moyamoya disease caused by mutation in ACTA2" EXACT [MONDO:design_pattern] synonym: "Moyamoya disease type 5" EXACT [MONDORULE:1, OMIM:614042] synonym: "MYMY5" RELATED [MONDO:Lexical, OMIM:614042] xref: OMIM:614042 {source="MONDO:equivalentTo"} @@ -264047,7 +267672,7 @@ xref: ICD9:277.89 {source="i2s", source="MONDO:relatedTo"} xref: OMIM:614044 {source="MONDO:equivalentTo"} xref: SCTID:190953007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0268417 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614044"} -is_a: MONDO:0003847 {source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9475 {source="mim2gene_medgen"} ! PRSS1 [Term] @@ -264058,6 +267683,8 @@ synonym: "ATFB11" RELATED [MONDO:Lexical, OMIM:614049] synonym: "atrial fibrillation, familial, 11" EXACT [MONDO:Lexical, OMIM:614049] synonym: "atrial fibrillation, familial, 11; ATFB11" RELATED [OMIM:614049] synonym: "atrial fibrillation, familial, type 11" EXACT [MONDORULE:2, OMIM:614049] +synonym: "familial atrial fibrillation caused by mutation in GJA5" EXACT [MONDO:design_pattern] +synonym: "GJA5 familial atrial fibrillation" EXACT [MONDO:design_pattern] xref: OMIM:614049 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:614049", source="MONDO:subClassOf"} xref: UMLS:C3279693 {source="OMIM:614049", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -264070,10 +267697,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/42 id: MONDO:0013545 name: atrial fibrillation, familial, 12 def: "Any familial atrial fibrillation in which the cause of the disease is a mutation in the ABCC9 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ABCC9 familial atrial fibrillation" EXACT [MONDO:design_pattern] synonym: "ATFB12" RELATED [MONDO:Lexical, OMIM:614050] synonym: "atrial fibrillation, familial, 12" EXACT [MONDO:Lexical, OMIM:614050] synonym: "atrial fibrillation, familial, 12; ATFB12" RELATED [OMIM:614050] synonym: "atrial fibrillation, familial, type 12" EXACT [MONDORULE:2, OMIM:614050] +synonym: "familial atrial fibrillation caused by mutation in ABCC9" EXACT [MONDO:design_pattern] xref: OMIM:614050 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:614050", source="MONDO:subClassOf"} xref: UMLS:C3279695 {source="NCBI:mim2gene_medline", source="OMIM:614050", source="MONDO:equivalentTo"} @@ -264117,18 +267746,20 @@ property_value: confidence "2.0" xsd:double id: MONDO:0013547 name: mitochondrial complex V (ATP synthase) deficiency nuclear type 3 def: "Any mitochondrial proton-transporting ATP synthase complex deficiency in which the cause of the disease is a mutation in the ATP5F1E gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ATP5F1E mitochondrial proton-transporting ATP synthase complex deficiency" EXACT [MONDO:design_pattern] synonym: "MC5DN3" EXACT [DOID:0060332, MONDO:Lexical, OMIM:614053] synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atp5E type" RELATED [OMIM:614053] synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 3" RELATED [OMIM:614053] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3" RELATED [MONDO:Lexical, OMIM:614053] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 3; MC5DN3" RELATED [OMIM:614053] +synonym: "mitochondrial proton-transporting ATP synthase complex deficiency caused by mutation in ATP5F1E" EXACT [MONDO:design_pattern] xref: DOID:0060332 {source="MONDO:equivalentTo"} xref: ICD10:E88.8 {source="DOID:0060332"} xref: OMIM:614053 {source="DOID:0060332", source="MONDO:equivalentTo"} xref: Orphanet:254913 {source="OMIM:614053", source="DOID:0060332", source="MONDO:subClassOf"} xref: UMLS:C3279708 {source="NCBI:mim2gene_medline", source="OMIM:614053", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:614053"} ! mitochondrial complex deficiency -is_a: MONDO:0014471 {source="MONDOLEX:0013547", source="ORDO:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency +is_a: MONDO:0014471 {source="DOID:0060332", source="MONDOLEX:0013547", source="ORDO:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: MONDO:0014471 ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/838 ! ATP5F1E relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/838 {source="mim2gene_medgen"} ! ATP5F1E @@ -264192,10 +267823,12 @@ property_value: confidence "0.20000000000000018" xsd:double id: MONDO:0013551 name: hereditary spastic paraplegia 47 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4B1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AP4B1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 47" EXACT [DOID:0110799] synonym: "cerebral palsy, spastic quadriplegic, 5" RELATED [OMIM:614066] synonym: "cerebral palsy, spastic quadriplegic, 5, formerly" RELATED [OMIM:614066] synonym: "CPSQ5" EXACT [DOID:0110799] +synonym: "hereditary spastic paraplegia caused by mutation in AP4B1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 47" EXACT [DOID:0110799, MONDORULE:2] synonym: "spastic paraplegia 47, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614066] synonym: "spastic paraplegia 47, autosomal recessive; SPG47" RELATED [OMIM:614066] @@ -264206,7 +267839,7 @@ xref: OMIM:614066 {source="DOID:0110799", source="MONDO:equivalentTo"} xref: Orphanet:280763 {source="DOID:0110799", source="MONDO:subClassOf", source="OMIM:614066"} xref: UMLS:C3279738 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614066"} is_a: MONDO:0017241 {source="ORDO:280763/btnt"} ! severe intellectual disability and progressive spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:614066"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110799", source="MONDO:Redundant", source="OMIM:614066"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/572 ! AP4B1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/572 {source="mim2gene_medgen"} ! AP4B1 @@ -264216,10 +267849,12 @@ property_value: confidence "5.0" xsd:double id: MONDO:0013552 name: hereditary spastic paraplegia 52 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the AP4S1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AP4S1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 52" EXACT [DOID:0110804] synonym: "cerebral palsy, spastic quadriplegic, 6" RELATED [OMIM:614067] synonym: "cerebral palsy, spastic quadriplegic, 6, formerly" RELATED [OMIM:614067] synonym: "CPSQ6" EXACT [DOID:0110804] +synonym: "hereditary spastic paraplegia caused by mutation in AP4S1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 52" EXACT [DOID:0110804, MONDORULE:2] synonym: "spastic paraplegia 52, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614067] synonym: "spastic paraplegia 52, autosomal recessive; SPG52" RELATED [OMIM:614067] @@ -264230,7 +267865,7 @@ xref: OMIM:614067 {source="DOID:0110804", source="MONDO:equivalentTo"} xref: Orphanet:280763 {source="MONDO:subClassOf", source="OMIM:614067", source="DOID:0110804"} xref: UMLS:C3279743 {source="NCBI:mim2gene_medline", source="OMIM:614067", source="MONDO:equivalentTo"} is_a: MONDO:0017241 {source="ORDO:280763/btnt"} ! severe intellectual disability and progressive spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:614067"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110804", source="MONDO:Redundant", source="OMIM:614067"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/575 ! AP4S1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/575 {source="mim2gene_medgen"} ! AP4S1 @@ -264244,8 +267879,10 @@ synonym: "ICF syndrome 2" EXACT [DOID:0090009] synonym: "ICF2" RELATED [MONDO:Lexical, OMIM:614069] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 2" EXACT [MONDO:Lexical, OMIM:614069] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome 2; ICF2" RELATED [OMIM:614069] +synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in ZBTB24" EXACT [MONDO:design_pattern] synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 2" EXACT [MONDORULE:1, OMIM:614069] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 2" EXACT [DOID:0090009, MONDORULE:1] +synonym: "ZBTB24 immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern] xref: DOID:0090009 {source="MONDO:equivalentTo"} xref: ICD10:D84.8 {source="DOID:0090009"} xref: OMIM:614069 {source="DOID:0090009", source="MONDO:equivalentTo"} @@ -264263,8 +267900,10 @@ name: psoriasis 13, susceptibility to def: "Any psoriasis in which the cause of the disease is a mutation in the TRAF3IP2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "psoriasis 13, susceptibility to" EXACT [MONDO:Lexical, OMIM:614070] synonym: "psoriasis 13, susceptibility to; PSORS13" RELATED [OMIM:614070] +synonym: "psoriasis caused by mutation in TRAF3IP2" EXACT [MONDO:design_pattern] synonym: "PSORS13" RELATED [MONDO:Lexical, OMIM:614070] synonym: "susceptibility to psoriasis 13" RELATED [OMIM:614070] +synonym: "TRAF3IP2 psoriasis" EXACT [MONDO:design_pattern] xref: OMIM:614070 {source="MONDO:equivalentTo"} xref: UMLS:C3279754 {source="NCBI:mim2gene_medline", source="OMIM:614070"} is_a: MONDO:0003847 ! inherited genetic disease @@ -264280,8 +267919,10 @@ name: Hermansky-Pudlak syndrome 3 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Hermansky-Pudlak syndrome 3" EXACT [MONDO:Lexical, OMIM:614072] synonym: "Hermansky-Pudlak syndrome 3; HPS3" RELATED [OMIM:614072] +synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS3" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 3" EXACT [DOID:0060541, MONDORULE:1, OMIM:614072] synonym: "HPS3" RELATED [MONDO:Lexical, OMIM:614072] +synonym: "HPS3 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060541 {source="MONDO:equivalentTo"} xref: OMIM:614072 {source="DOID:0060541", source="MONDO:equivalentTo"} xref: Orphanet:231512 {source="OMIM:614072", source="MONDO:subClassOf"} @@ -264289,7 +267930,7 @@ xref: Orphanet:79430 {source="OMIM:614072", source="MONDO:subClassOf"} xref: UMLS:C1423606 {source="OMIM:614072"} xref: UMLS:C3888001 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016502 {source="ORDO:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis -is_a: MONDO:0019312 {source="MONDO:Redundant", source="OMIM:614072"} ! Hermansky-Pudlak syndrome +is_a: MONDO:0019312 {source="DOID:0060541", source="MONDO:Redundant", source="OMIM:614072"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15597 ! HPS3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15597 {source="mim2gene_medgen"} ! HPS3 @@ -264301,15 +267942,17 @@ name: Hermansky-Pudlak syndrome 4 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Hermansky-Pudlak syndrome 4" EXACT [MONDO:Lexical, OMIM:614073] synonym: "Hermansky-Pudlak syndrome 4; HPS4" RELATED [OMIM:614073] +synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS4" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 4" EXACT [DOID:0060542, MONDORULE:1, OMIM:614073] synonym: "HPS4" RELATED [MONDO:Lexical, OMIM:614073] +synonym: "HPS4 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060542 {source="MONDO:equivalentTo"} xref: OMIM:614073 {source="DOID:0060542", source="MONDO:equivalentTo"} xref: Orphanet:231500 {source="MONDO:subClassOf", source="OMIM:614073"} xref: Orphanet:79430 {source="MONDO:subClassOf", source="OMIM:614073"} xref: UMLS:C3484357 {source="NCBI:mim2gene_medline", source="OMIM:614073", source="MONDO:equivalentTo"} is_a: MONDO:0016501 {source="ORDO:231500/btnt"} ! Hermansky-Pudlak syndrome with pulmonary fibrosis -is_a: MONDO:0019312 {source="MONDO:Redundant", source="OMIM:614073"} ! Hermansky-Pudlak syndrome +is_a: MONDO:0019312 {source="DOID:0060542", source="MONDO:Redundant", source="OMIM:614073"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15844 ! HPS4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15844 {source="mim2gene_medgen"} ! HPS4 @@ -264321,8 +267964,10 @@ name: Hermansky-Pudlak syndrome 5 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Hermansky-Pudlak syndrome 5" EXACT [MONDO:Lexical, OMIM:614074] synonym: "Hermansky-Pudlak syndrome 5; HPS5" RELATED [OMIM:614074] +synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS5" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 5" EXACT [DOID:0060543, MONDORULE:1, OMIM:614074] synonym: "HPS5" RELATED [MONDO:Lexical, OMIM:614074] +synonym: "HPS5 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060543 {source="MONDO:equivalentTo"} xref: OMIM:614074 {source="DOID:0060543", source="MONDO:equivalentTo"} xref: Orphanet:231512 {source="OMIM:614074", source="MONDO:subClassOf"} @@ -264330,7 +267975,7 @@ xref: Orphanet:79430 {source="OMIM:614074", source="MONDO:subClassOf"} xref: UMLS:C1424692 {source="OMIM:614074"} xref: UMLS:C3888004 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016502 {source="ORDO:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis -is_a: MONDO:0019312 {source="MONDO:Redundant", source="OMIM:614074"} ! Hermansky-Pudlak syndrome +is_a: MONDO:0019312 {source="DOID:0060543", source="MONDO:Redundant", source="OMIM:614074"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17022 ! HPS5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17022 {source="mim2gene_medgen"} ! HPS5 @@ -264342,8 +267987,10 @@ name: Hermansky-Pudlak syndrome 6 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the HPS6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Hermansky-Pudlak syndrome 6" EXACT [MONDO:Lexical, OMIM:614075] synonym: "Hermansky-Pudlak syndrome 6; HPS6" RELATED [OMIM:614075] +synonym: "Hermansky-Pudlak syndrome caused by mutation in HPS6" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 6" EXACT [DOID:0060544, MONDORULE:1, OMIM:614075] synonym: "HPS6" RELATED [MONDO:Lexical, OMIM:614075] +synonym: "HPS6 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060544 {source="MONDO:equivalentTo"} xref: NCIT:C150369 {source="MONDO:equivalentTo"} xref: OMIM:614075 {source="DOID:0060544", source="MONDO:equivalentTo"} @@ -264352,7 +267999,7 @@ xref: Orphanet:79430 {source="OMIM:614075", source="MONDO:subClassOf"} xref: UMLS:C1425796 {source="OMIM:614075"} xref: UMLS:C3888007 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016502 {source="ORDO:231512/btnt"} ! Hermansky-Pudlak syndrome without pulmonary fibrosis -is_a: MONDO:0019312 {source="MONDO:Redundant", source="OMIM:614075"} ! Hermansky-Pudlak syndrome +is_a: MONDO:0019312 {source="DOID:0060544", source="MONDO:Redundant", source="NCIT:C150369", source="OMIM:614075"} ! Hermansky-Pudlak syndrome intersection_of: MONDO:0019312 ! Hermansky-Pudlak syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18817 ! HPS6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18817 {source="mim2gene_medgen"} ! HPS6 @@ -264363,8 +268010,10 @@ id: MONDO:0013559 name: Hermansky-Pudlak syndrome 7 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the DTNBP1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:231531"} +synonym: "DTNBP1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome 7" EXACT [MONDO:Lexical, OMIM:614076] synonym: "Hermansky-Pudlak syndrome 7; HPS7" RELATED [OMIM:614076] +synonym: "Hermansky-Pudlak syndrome caused by mutation in DTNBP1" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 7" EXACT [DOID:0060545, MONDORULE:1, OMIM:614076] synonym: "HPS7" EXACT [MONDO:Lexical, OMIM:614076, Orphanet:231531] xref: DOID:0060545 {source="MONDO:equivalentTo"} @@ -264384,8 +268033,10 @@ id: MONDO:0013560 name: Hermansky-Pudlak syndrome 8 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S3 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:231537"} +synonym: "BLOC1S3 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome 8" EXACT [MONDO:Lexical, OMIM:614077] synonym: "Hermansky-Pudlak syndrome 8; HPS8" RELATED [OMIM:614077] +synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S3" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 8" EXACT [DOID:0060546, MONDORULE:1, OMIM:614077] synonym: "HPS8" EXACT [MONDO:Lexical, OMIM:614077, Orphanet:231537] xref: DOID:0060546 {source="MONDO:equivalentTo"} @@ -264433,6 +268084,7 @@ property_value: confidence "34.333333333333464" xsd:double [Term] id: MONDO:0013563 name: multiple congenital anomalies-hypotonia-seizures syndrome 1 +def: "Any multiple congenital anomalies/dysmorphic syndrome-intellectual disability in which the cause of the disease is a mutation in the PIGN gene." [MONDO:design_pattern] subset: ordo_malformation_syndrome {source="Orphanet:280633"} synonym: "congenital disorder of glycosylation due to PIGN deficiency" EXACT [Orphanet:280633] synonym: "glycosylphosphatidylinositol biosynthesis defect 3" RELATED [OMIM:614080] @@ -264442,6 +268094,8 @@ synonym: "multiple congenital anomalies-hypotonia-seizures syndrome" RELATED [Or synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 1" EXACT [MONDO:Lexical, OMIM:614080] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 1; MCAHS1" RELATED [OMIM:614080] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 1" EXACT [DOID:0080138, MONDORULE:1, OMIM:614080] +synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGN" EXACT [MONDO:design_pattern] +synonym: "PIGN multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern] synonym: "PIGN-CDG" EXACT [Orphanet:280633] xref: DOID:0080138 {source="MONDO:equivalentTo"} xref: GARD:0012781 {source="MONDO:equivalentTo"} @@ -264488,7 +268142,7 @@ xref: NCIT:C125708 {source="MONDO:kboom-pr-0.75/0.37/0.57", source="MONDO:equiva xref: OMIM:614082 {source="MONDO:equivalentTo", source="DOID:0111086"} xref: UMLS:C1333532 {source="OMIM:614082"} xref: UMLS:C3469527 {source="NCBI:mim2gene_medline", source="NCIT:C125708"} -is_a: MONDO:0019391 {source="DC-OMIM:614082", source="DOID:0111086", source="NCIT:C125708", source="OMIM:614082"} ! Fanconi anemia +is_a: MONDO:0019391 {source="DC-OMIM:614082", source="DOID:0111086", source="EFO:0009046", source="NCIT:C125708", source="OMIM:614082"} ! Fanconi anemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3588 {source="mim2gene_medgen"} ! FANCG property_value: confidence "2.5000000000000036" xsd:double @@ -264497,6 +268151,8 @@ id: MONDO:0013566 name: Fanconi anemia complementation group L def: "Any Fanconi anemia in which the cause of the disease is a mutation in the FANCL gene." [MONDO:patterns/disease_series_by_gene] synonym: "FANCL" EXACT [DOID:0111082, MONDO:Lexical, OMIM:614083] +synonym: "FANCL Fanconi anemia" EXACT [MONDO:design_pattern] +synonym: "Fanconi anemia caused by mutation in FANCL" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type L" EXACT [DOID:0111082, MONDORULE:1] synonym: "Fanconi Anemia, complementation Group 50" RELATED [OMIM:614083] synonym: "FANCONI ANEMIA, complementation group L" RELATED [MONDO:Lexical, OMIM:614083] @@ -264518,10 +268174,12 @@ name: atrial heart septal defect 3 def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the MYH6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ASD3" EXACT [DOID:0110108] synonym: "ASD3" RELATED [MONDO:Lexical, OMIM:614089] +synonym: "atrial heart septal defect caused by mutation in MYH6" EXACT [MONDO:design_pattern] synonym: "atrial heart septal defect type 3" EXACT [DOID:0110108, MONDORULE:1] synonym: "atrial septal defect 3" EXACT [DOID:0110108, MONDO:Lexical, OMIM:614089] synonym: "atrial septal defect 3; ASD3" RELATED [OMIM:614089] synonym: "atrial septal defect type 3" EXACT [MONDORULE:1, OMIM:614089] +synonym: "MYH6 atrial heart septal defect" EXACT [MONDO:design_pattern] xref: DOID:0110108 {source="MONDO:equivalentTo"} xref: ICD10:Q21.1 {source="DOID:0110108"} xref: MESH:C563540 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -264539,6 +268197,8 @@ property_value: confidence "4.000000000000001" xsd:double id: MONDO:0013568 name: sick sinus syndrome 3, susceptibility to def: "Any familial sick sinus syndrome in which the cause of the disease is a mutation in the MYH6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial sick sinus syndrome caused by mutation in MYH6" EXACT [MONDO:design_pattern] +synonym: "MYH6 familial sick sinus syndrome" EXACT [MONDO:design_pattern] synonym: "sick sinus syndrome 3, susceptibility to" EXACT [MONDO:Lexical, OMIM:614090] synonym: "sick sinus syndrome 3, susceptibility to; SSS3" RELATED [OMIM:614090] synonym: "SSS3" RELATED [MONDO:Lexical, OMIM:614090] @@ -264578,9 +268238,11 @@ id: MONDO:0013570 name: combined oxidative phosphorylation defect type 8 def: "Combined oxidative phosphorylation defect type 8 is a mitochondrial disease due to a defect in mitochondrial protein synthesis resulting in deficiency of respiratory chain complexes I, III and IV in the cardiac and skeletal muscle and brain characterized by severe hypertrophic cardiomyopathy, pulmonary hypoplasia, generalized muscle weakness and neurological involvement." [Orphanet:319504] subset: ordo_disease {source="Orphanet:319504"} +synonym: "AARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] synonym: "cardiomyopathy, hypertrophic mitochondrial, fatal infantile" RELATED [OMIM:614096] synonym: "combined oxidative phosphorylation deficiency 8" RELATED [MONDO:Lexical, OMIM:614096] synonym: "combined oxidative phosphorylation deficiency 8; COXPD8" RELATED [OMIM:614096] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in AARS2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 8" EXACT [MONDORULE:1, OMIM:614096] synonym: "COXPD8" EXACT [MONDO:Lexical, OMIM:614096, Orphanet:319504] xref: ICD10:I42.2 {source="ORDO:319504/attributed", source="ORDO:319504/ntbt", source="Orphanet:319504"} @@ -264649,7 +268311,9 @@ def: "Any cranioectodermal dysplasia in which the cause of the disease is a muta synonym: "CED3" RELATED [MONDO:Lexical, OMIM:614099] synonym: "cranioectodermal dysplasia 3" EXACT [MONDO:Lexical, OMIM:614099] synonym: "CRANIOECTODERMAL dysplasia 3; CED3" RELATED [OMIM:614099] +synonym: "cranioectodermal dysplasia caused by mutation in IFT43" EXACT [MONDO:design_pattern] synonym: "Cranioectodermal dysplasia type 3" EXACT [MONDORULE:1, OMIM:614099] +synonym: "IFT43 cranioectodermal dysplasia" EXACT [MONDO:design_pattern] xref: OMIM:614099 {source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="MONDO:subClassOf", source="OMIM:614099"} xref: UMLS:C3279807 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614099"} @@ -264796,6 +268460,8 @@ name: intellectual disability, autosomal dominant 2 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DOCK8 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 2" EXACT [DOID:0070032] synonym: "autosomal dominant non-syndromic intellectual disability 2" RELATED [DOID:0070032] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DOCK8" EXACT [MONDO:design_pattern] +synonym: "DOCK8 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:614113] synonym: "mental retardation, autosomal dominant 2; MRD2" RELATED [OMIM:614113] synonym: "mental retardation, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:614113] @@ -264814,8 +268480,10 @@ property_value: confidence "0.7021739130434781" xsd:double id: MONDO:0013582 name: mosaic variegated aneuploidy syndrome 2 def: "Any mosaic variegated aneuploidy syndrome in which the cause of the disease is a mutation in the CEP57 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CEP57 mosaic variegated aneuploidy syndrome" EXACT [MONDO:design_pattern] synonym: "mosaic variegated aneuploidy syndrome 2" EXACT [MONDO:Lexical, OMIM:614114] synonym: "MOSAIC variegated aneuploidy syndrome 2; MVA2" RELATED [OMIM:614114] +synonym: "mosaic variegated aneuploidy syndrome caused by mutation in CEP57" EXACT [MONDO:design_pattern] synonym: "Mosaic variegated aneuploidy syndrome type 2" EXACT [MONDORULE:1, OMIM:614114] synonym: "mosaic variegated aneuploidy syndrome type 2" EXACT [DOID:0080142, MONDORULE:1] synonym: "MVA2" RELATED [MONDO:Lexical, OMIM:614114] @@ -264875,7 +268543,7 @@ xref: MESH:C580162 {source="MONDO:equivalentTo"} xref: OMIM:614116 {source="DOID:0070158", source="ORDO:456318/e", source="Orphanet:456318", source="MONDO:equivalentTo"} xref: Orphanet:456318 {source="DOID:0070158", source="MONDO:equivalentTo"} xref: UMLS:C3279885 {source="OMIM:614116", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015364 {source="DOID:0070158", source="OMIM:614116", source="Orphanet:456318/inferred"} ! hereditary sensory and autonomic neuropathy +is_a: MONDO:0015364 {source="DOID:0070158", source="MESH:C580162", source="OMIM:614116", source="Orphanet:456318/inferred"} ! hereditary sensory and autonomic neuropathy is_a: MONDO:0015365 {source="MONDO:Redundant", source="Orphanet:456318"} ! autosomal dominant hereditary sensory and autonomic neuropathy is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:456318", source="Orphanet:456318/inferred"} ! genetic dementia is_a: MONDO:0015952 {source="MONDO:Redundant", source="Orphanet:456318", source="Orphanet:456318/inferred"} ! genetic neurodegenerative disease @@ -264894,7 +268562,9 @@ def: "Any hydrolethalus syndrome in which the cause of the disease is a mutation synonym: "HLS2" RELATED [MONDO:Lexical, OMIM:614120] synonym: "hydrolethalus syndrome 2" EXACT [MONDO:Lexical, OMIM:614120] synonym: "hydrolethalus syndrome 2; HLS2" RELATED [OMIM:614120] +synonym: "hydrolethalus syndrome caused by mutation in KIF7" EXACT [MONDO:design_pattern] synonym: "hydrolethalus syndrome type 2" EXACT [MONDORULE:1, OMIM:614120] +synonym: "KIF7 hydrolethalus syndrome" EXACT [MONDO:design_pattern] xref: OMIM:614120 {source="MONDO:equivalentTo"} xref: Orphanet:2189 {source="MONDO:subClassOf", source="OMIM:614120"} xref: UMLS:C3279899 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614120"} @@ -264947,10 +268617,12 @@ id: MONDO:0013588 name: Perrault syndrome 3 def: "Any Perrault syndrome in which the cause of the disease is a mutation in the CLPP gene." [MONDO:patterns/disease_series_by_gene] comment: based on OMIM phenotypic series 220290. {source="OMIM:614129"} +synonym: "CLPP Perrault syndrome" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal recessive 81" RELATED [OMIM:614129] synonym: "deafness, autosomal recessive 81, formerly" RELATED [OMIM:614129] synonym: "Perrault syndrome 3" EXACT [MONDO:Lexical, OMIM:614129] synonym: "Perrault syndrome 3; PRLTS3" RELATED [OMIM:614129] +synonym: "Perrault syndrome caused by mutation in CLPP" EXACT [MONDO:design_pattern] synonym: "Perrault syndrome type 3" EXACT [MONDORULE:1, OMIM:614129] synonym: "PRLTS3" RELATED [MONDO:Lexical, OMIM:614129] xref: OMIM:614129 {source="MONDO:equivalentTo"} @@ -264969,9 +268641,11 @@ name: focal segmental glomerulosclerosis 6 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the MYO1E gene." [MONDO:patterns/disease_series_by_gene] synonym: "focal segmental glomerulosclerosis 6" EXACT [MONDO:Lexical, OMIM:614131] synonym: "focal segmental glomerulosclerosis 6; FSGS6" RELATED [OMIM:614131] +synonym: "focal segmental glomerulosclerosis caused by mutation in MYO1E" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis type 6" EXACT [DOID:0111131, MONDORULE:1, OMIM:614131] synonym: "FSGS6" EXACT [DOID:0111131, MONDO:Lexical, OMIM:614131] synonym: "glomerulosclerosis, focal segmental, 6" RELATED [OMIM:614131] +synonym: "MYO1E focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern] xref: DOID:0111131 {source="MONDO:equivalentTo"} xref: ICD10:N04.1 {source="DOID:0111131"} xref: OMIM:614131 {source="DOID:0111131", source="MONDO:equivalentTo"} @@ -264987,6 +268661,8 @@ property_value: confidence "0.5000000000000002" xsd:double id: MONDO:0013590 name: Stickler syndrome, type 4 def: "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive Stickler syndrome caused by mutation in COL9A1" EXACT [MONDO:design_pattern] +synonym: "COL9A1 autosomal recessive Stickler syndrome" EXACT [MONDO:design_pattern] synonym: "STICKLER syndrome, type IV" RELATED [MONDO:Lexical, OMIM:614134] synonym: "STICKLER syndrome, type IV; STL4" RELATED [OMIM:614134] synonym: "STL4" RELATED [MONDO:Lexical, OMIM:614134] @@ -265052,11 +268728,13 @@ name: autosomal dominant nonsyndromic deafness 64 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the DIABLO gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "autosomal dominant deafness 64" EXACT [DOID:0110585] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in DIABLO" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 64" EXACT [DOID:0110585, MONDORULE:2] synonym: "deafness, autosomal dominant 64" RELATED [MONDO:Lexical, OMIM:614152] synonym: "deafness, autosomal dominant 64; DFNA64" RELATED [OMIM:614152] synonym: "deafness, autosomal dominant type 64" EXACT [MONDORULE:2, OMIM:614152] synonym: "DFNA64" EXACT [DOID:0110585, MONDO:Lexical, OMIM:614152] +synonym: "DIABLO autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110585 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110585"} xref: OMIM:614152 {source="DOID:0110585", source="MONDO:equivalentTo"} @@ -265112,6 +268790,8 @@ def: "Any inherited isolated nail anomaly in which the cause of the disease is a subset: ordo_disease {source="Orphanet:280654"} synonym: "autosomal recessive nail dysplasia" RELATED [Orphanet:280654] synonym: "claw-Shaped nails" RELATED [OMIM:614157] +synonym: "FZD6 inherited isolated nail anomaly" EXACT [MONDO:design_pattern] +synonym: "inherited isolated nail anomaly caused by mutation in FZD6" EXACT [MONDO:design_pattern] synonym: "nail disorder, nonsyndromic congenital, 10" RELATED [MONDO:Lexical, OMIM:614157] synonym: "nail disorder, nonsyndromic congenital, 10; NDNC10" RELATED [OMIM:614157] synonym: "nail disorder, nonsyndromic congenital, type 10" EXACT [MONDORULE:2, OMIM:614157] @@ -265137,6 +268817,8 @@ def: "Any inherited bleeding disorder, platelet-type in which the cause of the d synonym: "BDPLT14" EXACT [DOID:0111047, MONDO:Lexical, OMIM:614158] synonym: "bleeding disorder, PLATELET-type, 14" RELATED [MONDO:Lexical, OMIM:614158] synonym: "bleeding disorder, PLATELET-type, 14; BDPLT14" RELATED [OMIM:614158] +synonym: "inherited bleeding disorder, platelet-type caused by mutation in TBXAS1" EXACT [MONDO:design_pattern] +synonym: "TBXAS1 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern] synonym: "thromboxane synthase deficiency" EXACT [DOID:0111047] synonym: "thromboxane synthetase deficiency" RELATED [OMIM:614158] xref: DOID:0111047 {source="MONDO:equivalentTo"} @@ -265145,7 +268827,7 @@ xref: OMIM:614158 {source="DOID:0111047", source="MONDO:equivalentTo"} xref: SCTID:234477002 {source="MONDO:kboom-pr-1.00/0.80/10.04", source="MONDO:equivalentTo"} xref: UMLS:C0398635 {source="NCBI:mim2gene_medline", source="OMIM:614158", source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="DC-OMIM:614158", source="MONDOLEX:0013597", source="OMIM:614158"} ! inherited bleeding disorder, platelet-type -is_a: MONDO:0003847 {source="MONDO:Redundant", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0020116 {source="DOID:0111047", source="MONDO:Redundant"} ! rare blood coagulation disease intersection_of: MONDO:0000009 ! inherited bleeding disorder, platelet-type intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11609 ! TBXAS1 @@ -265228,7 +268910,7 @@ xref: SCTID:193462001 {source="MONDO:kboom-pr-1.00/0.84/14.11", source="MONDO:eq xref: UMLS:C0393770 {source="NCBI:mim2gene_medline", source="MONDO:directSiblingOf"} xref: UMLS:C0917801 {source="NCIT:C28286"} xref: UMLS:C3279991 {source="OMIM:614163"} -is_a: MONDO:0003406 {source="ICD10:G47.0", source="MESH:D007319/inferred", source="NCIT:C28286"} ! sleep-wake disorder +is_a: MONDO:0003406 {source="EFO:0004698", source="ICD10:G47.0", source="MESH:D007319/inferred", source="NCIT:C28286", source="linkedlifedata/inferred"} ! sleep-wake disorder is_a: MONDO:0005084 {source="EFO:0004698", source="EFO:0004698/inferred"} ! mental disorder relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19 {source="mim2gene_medgen"} ! AANAT relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2384 {source="mim2gene_medgen"} ! CRY1 @@ -265245,7 +268927,7 @@ xref: OMIM:614164 {source="MONDO:equivalentTo"} xref: SCTID:234590006 {source="MONDO:equivalentTo"} xref: UMLS:C0398747 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614164"} is_a: MONDO:0019052 ! inborn errors of metabolism -is_a: MONDO:0024626 {source="linkedlife"} ! defective phagocytic cell engulfment +is_a: MONDO:0024626 {source="linkedlifedata"} ! defective phagocytic cell engulfment relationship: disease_has_basis_in_disruption_of GO:0004602 ! glutathione peroxidase activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4553 {source="mim2gene_medgen"} ! GPX1 @@ -265253,10 +268935,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/45 id: MONDO:0013602 name: paragangliomas 5 def: "Any paraganglioma in which the cause of the disease is a mutation in the SDHA gene." [MONDO:patterns/disease_series_by_gene] +synonym: "paraganglioma caused by mutation in SDHA" EXACT [MONDO:design_pattern] synonym: "paragangliomas 5" EXACT [MONDO:Lexical, OMIM:614165] synonym: "paragangliomas 5; PGL5" RELATED [OMIM:614165] synonym: "paragangliomas type 5" EXACT [MONDORULE:1, OMIM:614165] synonym: "PGL5" RELATED [MONDO:Lexical, OMIM:614165] +synonym: "SDHA paraganglioma" EXACT [MONDO:design_pattern] xref: OMIM:614165 {source="MONDO:equivalentTo"} xref: Orphanet:29072 {source="MONDO:subClassOf", source="OMIM:614165"} xref: UMLS:C3279992 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614165"} @@ -265301,7 +268985,9 @@ def: "Any brittle cornea syndrome in which the cause of the disease is a mutatio synonym: "BCS2" RELATED [MONDO:Lexical, OMIM:614170] synonym: "brittle cornea syndrome 2" EXACT [MONDO:Lexical, OMIM:614170] synonym: "brittle cornea syndrome 2; BCS2" RELATED [OMIM:614170] +synonym: "brittle cornea syndrome caused by mutation in PRDM5" EXACT [MONDO:design_pattern] synonym: "brittle cornea syndrome type 2" EXACT [MONDORULE:1, OMIM:614170] +synonym: "PRDM5 brittle cornea syndrome" EXACT [MONDO:design_pattern] xref: OMIM:614170 {source="MONDO:equivalentTo"} xref: Orphanet:90354 {source="OMIM:614170", source="MONDO:subClassOf"} xref: UMLS:C3280011 {source="NCBI:mim2gene_medline", source="OMIM:614170", source="MONDO:equivalentTo"} @@ -265316,8 +269002,10 @@ id: MONDO:0013606 name: Hermansky-Pudlak syndrome 9 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the BLOC1S6 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_clinical_subtype {source="Orphanet:280663"} +synonym: "BLOC1S6 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome 9" EXACT [MONDO:Lexical, OMIM:614171] synonym: "Hermansky-Pudlak syndrome 9; HPS9" RELATED [OMIM:614171] +synonym: "Hermansky-Pudlak syndrome caused by mutation in BLOC1S6" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 9" EXACT [DOID:0060547, MONDORULE:1, OMIM:614171] synonym: "HPS9" EXACT [MONDO:Lexical, OMIM:614171, Orphanet:280663] xref: DOID:0060547 {source="MONDO:equivalentTo"} @@ -265369,7 +269057,9 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th synonym: "JBTS13" EXACT [DOID:0110982, MONDO:Lexical, OMIM:614173] synonym: "Joubert syndrome 13" EXACT [MONDO:Lexical, OMIM:614173] synonym: "Joubert syndrome 13; JBTS13" RELATED [OMIM:614173] +synonym: "Joubert syndrome caused by mutation in TCTN1" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 13" EXACT [DOID:0110982, MONDORULE:2, OMIM:614173] +synonym: "TCTN1 Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110982 {source="MONDO:equivalentTo"} xref: OMIM:614173 {source="DOID:0110982", source="MONDO:equivalentTo"} xref: Orphanet:475 {source="OMIM:614173", source="MONDO:subClassOf"} @@ -265383,8 +269073,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26 id: MONDO:0013609 name: Meckel syndrome, type 10 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "B9D2 Meckel syndrome" EXACT [MONDO:design_pattern] synonym: "JBTS34" RELATED [GTR:AN1012610] synonym: "Joubert syndrome 34" RELATED [GTR:AN1012156, OMIM:614175] +synonym: "Meckel syndrome caused by mutation in B9D2" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 10" EXACT [MONDO:Lexical, OMIM:614175] synonym: "MECKEL syndrome, type 10; MKS10" RELATED [OMIM:614175] synonym: "MKS10" RELATED [MONDO:Lexical, OMIM:614175] @@ -265404,8 +269096,10 @@ property_value: confidence "2.3877919141235715" xsd:double id: MONDO:0013610 name: retinitis pigmentosa 61 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the CLRN1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CLRN1 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 61" EXACT [MONDO:Lexical, OMIM:614180] synonym: "retinitis pigmentosa 61; RP61" RELATED [OMIM:614180] +synonym: "retinitis pigmentosa caused by mutation in CLRN1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 61" EXACT [DOID:0110373, MONDORULE:2, OMIM:614180] synonym: "RP61" EXACT [DOID:0110373, MONDO:Lexical, OMIM:614180] xref: DOID:0110373 {source="MONDO:equivalentTo"} @@ -265421,8 +269115,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12 id: MONDO:0013611 name: retinitis pigmentosa 62 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the MAK gene." [MONDO:patterns/disease_series_by_gene] +synonym: "MAK retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 62" EXACT [MONDO:Lexical, OMIM:614181] synonym: "retinitis pigmentosa 62; RP62" RELATED [OMIM:614181] +synonym: "retinitis pigmentosa caused by mutation in MAK" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 62" EXACT [DOID:0110380, MONDORULE:2, OMIM:614181] synonym: "RP62" EXACT [DOID:0110380, MONDO:Lexical, OMIM:614181] xref: DOID:0110380 {source="MONDO:equivalentTo"} @@ -265437,8 +269133,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/68 [Term] id: MONDO:0013612 name: Geleophysic dysplasia 2 +def: "Any geleophysic dysplasia in which the cause of the disease is a mutation in the FBN1 gene." [MONDO:design_pattern] +synonym: "FBN1 geleophysic dysplasia" EXACT [MONDO:design_pattern] synonym: "Geleophysic dysplasia 2" EXACT [MONDO:Lexical, OMIM:614185] synonym: "GELEOPHYSIC dysplasia 2; GPHYSD2" RELATED [OMIM:614185] +synonym: "geleophysic dysplasia caused by mutation in FBN1" EXACT [MONDO:design_pattern] synonym: "Geleophysic dysplasia type 2" EXACT [MONDORULE:1, OMIM:614185] synonym: "GPHYSD2" RELATED [MONDO:Lexical, OMIM:614185] xref: OMIM:614185 {source="MONDO:equivalentTo"} @@ -265455,9 +269154,11 @@ id: MONDO:0013613 name: Leber congenital amaurosis 16 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the KCNJ13 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0010885"} +synonym: "KCNJ13 Leber congenital amaurosis" EXACT [MONDO:design_pattern] synonym: "LCA16" EXACT [DOID:0110118, MONDO:Lexical, OMIM:614186] synonym: "Leber congenital amaurosis 16" EXACT [MONDO:Lexical, OMIM:614186] synonym: "Leber congenital amaurosis 16; LCA16" RELATED [OMIM:614186] +synonym: "Leber congenital amaurosis caused by mutation in KCNJ13" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 16" EXACT [DOID:0110118, MONDORULE:2, OMIM:614186] xref: DOID:0110118 {source="MONDO:equivalentTo"} xref: GARD:0010885 {source="MONDO:equivalentTo"} @@ -265509,10 +269210,12 @@ id: MONDO:0013616 name: pigmented nodular adrenocortical disease, primary, 3 def: "Any primary pigmented nodular adrenocortical disease in which the cause of the disease is a mutation in the PDE8B gene." [MONDO:patterns/disease_series_by_gene] synonym: "Cushing syndrome, adrenal, due to PPNAD3" RELATED [OMIM:614190] +synonym: "PDE8B primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern] synonym: "pigmented nodular adrenocortical disease, primary, 3" EXACT [MONDO:Lexical, OMIM:614190] synonym: "pigmented nodular adrenocortical disease, primary, 3; PPNAD3" RELATED [OMIM:614190] synonym: "pigmented nodular adrenocortical disease, primary, type 3" EXACT [MONDORULE:1, OMIM:614190] synonym: "PPNAD3" RELATED [MONDO:Lexical, OMIM:614190] +synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PDE8B" EXACT [MONDO:design_pattern] xref: OMIM:614190 {source="MONDO:equivalentTo"} xref: Orphanet:189439 {source="OMIM:614190", source="MONDO:subClassOf"} xref: UMLS:C3280094 {source="NCBI:mim2gene_medline", source="OMIM:614190", source="MONDO:equivalentTo"} @@ -265527,8 +269230,8 @@ id: MONDO:0013617 name: overgrowth-macrocephaly-facial dysmorphism syndrome def: "This syndrome is characterised by tall stature, learning difficulties and facial dysmorphism." [Orphanet:137634] subset: ordo_malformation_syndrome {source="Orphanet:137634"} -synonym: "macrocephaly, macrosomia, and facial DYSMORPHISM syndrome" RELATED [MONDO:Lexical, OMIM:614192] -synonym: "macrocephaly, macrosomia, and facial DYSMORPHISM syndrome; MMFD" RELATED [OMIM:614192] +synonym: "macrocephaly, macrosomia, and facial dysmorphism syndrome" RELATED [MONDO:Lexical, OMIM:614192] +synonym: "macrocephaly, macrosomia, and facial dysmorphism syndrome; MMFD" RELATED [OMIM:614192] synonym: "MMFD" RELATED [MONDO:Lexical, OMIM:614192] synonym: "RNF135-related overgrowth syndrome" EXACT [Orphanet:137634] xref: ICD10:Q87.3 {source="ORDO:137634/ntbt", source="Orphanet:137634", source="ORDO:137634/attributed"} @@ -265556,9 +269259,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12 id: MONDO:0013619 name: nephrotic syndrome, type 6 def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the PTPRO gene." [MONDO:patterns/disease_series_by_gene] +synonym: "nephrotic syndrome caused by mutation in PTPRO" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 6" EXACT [MONDO:Lexical, OMIM:614196] synonym: "nephrotic syndrome, type 6; NPHS6" RELATED [OMIM:614196] synonym: "NPHS6" RELATED [MONDO:Lexical, OMIM:614196] +synonym: "PTPRO nephrotic syndrome" EXACT [MONDO:design_pattern] xref: OMIM:614196 {source="MONDO:equivalentTo"} xref: UMLS:C3280100 {source="NCBI:mim2gene_medline", source="OMIM:614196", source="MONDO:equivalentTo"} is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:614196"} ! familial nephrotic syndrome @@ -265575,18 +269280,20 @@ name: congenital myasthenic syndrome 16 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SCN4A gene." [MONDO:patterns/disease_series_by_gene] synonym: "CMS16" EXACT [DOID:0110682, MONDO:Lexical, OMIM:614198] synonym: "congenital myasthenic syndrome acetazolamide-responsive" EXACT [DOID:0110682] +synonym: "congenital myasthenic syndrome caused by mutation in SCN4A" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 16" EXACT [DOID:0110682, MONDORULE:2] synonym: "myasthenic syndrome, congenital, 16" RELATED [MONDO:Lexical, OMIM:614198] synonym: "myasthenic syndrome, congenital, 16; CMS16" RELATED [OMIM:614198] synonym: "myasthenic syndrome, congenital, Acetazolamide-responsive" RELATED [OMIM:614198] synonym: "myasthenic syndrome, congenital, type 16" EXACT [MONDORULE:2, OMIM:614198] +synonym: "SCN4A congenital myasthenic syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110682 {source="MONDO:equivalentTo"} xref: OMIM:614198 {source="DOID:0110682", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:614198"} xref: Orphanet:98913 {source="MONDO:subClassOf", source="OMIM:614198"} xref: UMLS:C3280112 {source="OMIM:614198"} xref: UMLS:C3502630 {source="NCBI:mim2gene_medline"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:614198"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110682", source="MONDO:Redundant", source="OMIM:614198"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10591 ! SCN4A @@ -265626,6 +269333,8 @@ synonym: "glycoprotein Ia deficiency" EXACT [DOID:0111045] synonym: "glycoprotein Ia deficiency" RELATED [OMIM:614200] synonym: "GP Ia deficiency" EXACT [DOID:0111045] synonym: "GP Ia deficiency" RELATED [OMIM:614200] +synonym: "inherited bleeding disorder, platelet-type caused by mutation in ITGA2" EXACT [MONDO:design_pattern] +synonym: "ITGA2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern] xref: DOID:0111045 {source="MONDO:equivalentTo"} xref: ICD10:D69.8 {source="DOID:0111045", source="ORDO:98886/attributed", source="Orphanet:98886", source="ORDO:98886/ntbt"} xref: MESH:C566000 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -265653,6 +269362,8 @@ synonym: "glycoprotein 6 deficiency" RELATED [OMIM:614201] synonym: "glycoprotein VI deficiency" EXACT [DOID:0111057] synonym: "GP 6 deficiency" RELATED [OMIM:614201] synonym: "GP VI deficiency" EXACT [DOID:0111057] +synonym: "GP6 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern] +synonym: "inherited bleeding disorder, platelet-type caused by mutation in GP6" EXACT [MONDO:design_pattern] synonym: "Platelet-type bleeding disorder-11" RELATED [GARD:0013293] xref: DOID:0111057 {source="MONDO:equivalentTo"} xref: GARD:0013293 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -265672,6 +269383,8 @@ property_value: confidence "0.3333333333333335" xsd:double id: MONDO:0013624 name: intellectual disability, autosomal recessive 15 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MAN1B1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MAN1B1" EXACT [MONDO:design_pattern] +synonym: "MAN1B1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 15" EXACT [DOID:1059, MONDO:Lexical, OMIM:614202] synonym: "mental retardation, autosomal recessive 15; MRT15" RELATED [OMIM:614202] synonym: "mental retardation, autosomal recessive type 15" EXACT [MONDORULE:2, OMIM:614202] @@ -265694,13 +269407,15 @@ synonym: "autosomal dominant Parkinson disease 17" EXACT [DOID:0060897] synonym: "PARK17" RELATED [MONDO:Lexical, OMIM:614203] synonym: "Parkinson disease 17" EXACT [MONDO:Lexical, OMIM:614203] synonym: "Parkinson disease 17; PARK17" RELATED [OMIM:614203] +synonym: "Parkinson disease caused by mutation in VPS35" EXACT [MONDO:design_pattern] synonym: "Parkinson disease type 17" EXACT [DOID:0060897, MONDORULE:2, OMIM:614203] synonym: "Parkinson's disease 17" RELATED [DOID:0060897] +synonym: "VPS35 Parkinson disease" EXACT [MONDO:design_pattern] xref: DOID:0060897 {source="MONDO:equivalentTo"} xref: OMIM:614203 {source="MONDO:equivalentTo", source="DOID:0060897"} xref: Orphanet:411602 {source="OMIM:614203", source="MONDO:subClassOf"} xref: UMLS:C3280133 {source="OMIM:614203", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:614203"} ! Parkinson disease +is_a: MONDO:0005180 {source="DOID:0060897/inferred", source="MONDO:Redundant", source="OMIM:614203"} ! Parkinson disease is_a: MONDO:0018466 {source="DOID:0060897", source="Orphanet:411602"} ! hereditary late onset Parkinson disease intersection_of: MONDO:0005180 ! Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13487 ! VPS35 @@ -265713,10 +269428,12 @@ name: psoriasis 14, pustular def: "Any psoriasis in which the cause of the disease is a mutation in the IL36RN gene." [MONDO:patterns/disease_series_by_gene] synonym: "acrodermatitis continua of Hallopeau" RELATED [OMIM:614204] synonym: "generalized pustular psoriasis" RELATED [OMIM:614204] +synonym: "IL36RN psoriasis" EXACT [MONDO:design_pattern] synonym: "Interleukin 36 receptor antagonist deficiency" RELATED [OMIM:614204] synonym: "palmoplantar pustulosis" RELATED [OMIM:614204] synonym: "psoriasis 14, pustular" EXACT [MONDO:Lexical, OMIM:614204] synonym: "psoriasis 14, pustular; PSORS14" RELATED [OMIM:614204] +synonym: "psoriasis caused by mutation in IL36RN" EXACT [MONDO:design_pattern] synonym: "Psorp" RELATED [OMIM:614204] synonym: "PSORS14" RELATED [MONDO:Lexical, OMIM:614204] xref: ICD9:696.1 {source="i2s", source="MONDO:relatedTo"} @@ -265735,8 +269452,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15 id: MONDO:0013627 name: three M syndrome 3 def: "Any 3-M syndrome in which the cause of the disease is a mutation in the CCDC8 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "3-M syndrome caused by mutation in CCDC8" EXACT [MONDO:design_pattern] synonym: "3M syndrome 3" RELATED [OMIM:614205] synonym: "3M3" RELATED [MONDO:Lexical, OMIM:614205] +synonym: "CCDC8 3-M syndrome" EXACT [MONDO:design_pattern] synonym: "three M syndrome 3" EXACT [MONDO:Lexical, OMIM:614205] synonym: "three M syndrome 3; 3M3" RELATED [OMIM:614205] synonym: "three M syndrome type 3" EXACT [MONDORULE:1, OMIM:614205] @@ -265758,8 +269477,10 @@ synonym: "HPMRS3" RELATED [MONDO:Lexical, OMIM:614207] synonym: "hyperphosphatasia with mental retardation syndrome 3" EXACT [MONDO:Lexical, OMIM:614207] synonym: "hyperphosphatasia with mental retardation syndrome 3; HPMRS3" RELATED [OMIM:614207] synonym: "hyperphosphatasia with mental retardation syndrome type 3" EXACT [MONDORULE:1, OMIM:614207] +synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP2" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 17" RELATED [OMIM:614207] synonym: "mental retardation, autosomal recessive 21" RELATED [OMIM:614207] +synonym: "PGAP2 hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern] xref: OMIM:614207 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="OMIM:614207", source="MONDO:subClassOf"} xref: UMLS:C3280153 {source="NCBI:mim2gene_medline", source="OMIM:614207", source="MONDO:equivalentTo"} @@ -265784,6 +269505,8 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0013630 name: Meckel syndrome, type 9 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the B9D1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "B9D1 Meckel syndrome" EXACT [MONDO:design_pattern] +synonym: "Meckel syndrome caused by mutation in B9D1" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 9" EXACT [MONDO:Lexical, OMIM:614209] synonym: "MECKEL syndrome, type 9; MKS9" RELATED [OMIM:614209] synonym: "MKS9" RELATED [MONDO:Lexical, OMIM:614209] @@ -265826,6 +269549,8 @@ is_a: MONDO:0019587 {source="DC-OMIM:614211", source="DOID:0110562", source="OMI id: MONDO:0013633 name: encephalopathy, acute, infection-induced, susceptibility to, 4 def: "Any encephalopathy, acute, infection-induced in which the cause of the disease is a mutation in the CPT2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CPT2 encephalopathy, acute, infection-induced" EXACT [MONDO:design_pattern] +synonym: "encephalopathy, acute, infection-induced caused by mutation in CPT2" EXACT [MONDO:design_pattern] synonym: "encephalopathy, acute, infection-induced, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:614212] synonym: "encephalopathy, acute, infection-induced, susceptibility to, 4; IIAE4" RELATED [OMIM:614212] synonym: "encephalopathy, acute, infection-induced, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614212] @@ -265845,16 +269570,18 @@ property_value: confidence "28.000000000000053" xsd:double id: MONDO:0013634 name: neuropathy, hereditary sensory, type 2C def: "Any hereditary sensory and autonomic neuropathy type 2 in which the cause of the disease is a mutation in the KIF1A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "hereditary sensory and autonomic neuropathy type 2 caused by mutation in KIF1A" EXACT [MONDO:design_pattern] synonym: "hereditary sensory neuropathy type 2C" RELATED [DOID:0070147] synonym: "hereditary sensory neuropathy type IIC" EXACT [DOID:0070147] synonym: "HSN2C" EXACT [DOID:0070147, MONDO:Lexical, OMIM:614213] +synonym: "KIF1A hereditary sensory and autonomic neuropathy type 2" EXACT [MONDO:design_pattern] synonym: "neuropathy, hereditary sensory, type IIC" RELATED [MONDO:Lexical, OMIM:614213] synonym: "neuropathy, hereditary sensory, type IIC; HSN2C" RELATED [OMIM:614213] xref: DOID:0070147 {source="MONDO:equivalentTo"} xref: OMIM:614213 {source="DOID:0070147", source="MONDO:equivalentTo"} xref: Orphanet:970 {source="OMIM:614213", source="MONDO:subClassOf"} xref: UMLS:C3280168 {source="NCBI:mim2gene_medline", source="OMIM:614213", source="MONDO:equivalentTo"} -is_a: MONDO:0019941 {source="ORDO:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2 +is_a: MONDO:0019941 {source="DOID:0070147", source="ORDO:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2 intersection_of: MONDO:0019941 ! hereditary sensory and autonomic neuropathy type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/888 ! KIF1A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/888 {source="mim2gene_medgen"} ! KIF1A @@ -265866,8 +269593,10 @@ name: Adams-Oliver syndrome 2 def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DOCK6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Adams-Oliver syndrome 2" EXACT [MONDO:Lexical, OMIM:614219] synonym: "Adams-Oliver syndrome 2; AOS2" RELATED [OMIM:614219] +synonym: "Adams-Oliver syndrome caused by mutation in DOCK6" EXACT [MONDO:design_pattern] synonym: "Adams-Oliver syndrome type 2" EXACT [MONDORULE:1, OMIM:614219] synonym: "AOS2" RELATED [MONDO:Lexical, OMIM:614219] +synonym: "DOCK6 Adams-Oliver syndrome" EXACT [MONDO:design_pattern] xref: OMIM:614219 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="OMIM:614219", source="MONDO:subClassOf"} xref: UMLS:C3280182 {source="NCBI:mim2gene_medline", source="OMIM:614219", source="MONDO:equivalentTo"} @@ -265907,9 +269636,11 @@ name: Warburg micro syndrome 3 def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB18 gene." [MONDO:patterns/disease_series_by_gene] synonym: "micro syndrome 3" EXACT [DOID:0110718] synonym: "micro syndrome 3" RELATED [OMIM:614222] +synonym: "RAB18 Warburg micro syndrome" EXACT [MONDO:design_pattern] synonym: "WARBM3" EXACT [DOID:0110718, MONDO:Lexical, OMIM:614222] synonym: "Warburg micro syndrome 3" EXACT [MONDO:Lexical, OMIM:614222] synonym: "WARBURG micro syndrome 3; WARBM3" RELATED [OMIM:614222] +synonym: "Warburg micro syndrome caused by mutation in RAB18" EXACT [MONDO:design_pattern] synonym: "Warburg micro syndrome type 3" EXACT [DOID:0110718, MONDORULE:1, OMIM:614222] xref: DOID:0110718 {source="MONDO:equivalentTo"} xref: ICD10:Q87.0 {source="DOID:0110718"} @@ -265951,7 +269682,7 @@ xref: UMLS:C3280205 {source="NCBI:mim2gene_medline", source="OMIM:614224", sourc is_a: MONDO:0015506 {source="Orphanet:284247"} ! rare syndrome with cardiac malformations is_a: MONDO:0015953 {source="Orphanet:284247"} ! genetic central nervous system and retinal vascular disease is_a: MONDO:0019110 {source="Orphanet:284247"} ! rare central nervous system and retinal vascular disease -is_a: MONDO:0020238 {source="Orphanet:284247"} ! genetic vitreous-retinal disease +is_a: MONDO:0020238 {source="Orphanet:284247"} ! inherited vitreous-retinal disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5476 {source="mim2gene_medgen"} ! IGFBP7 property_value: confidence "8.333333333333334" xsd:double @@ -265961,9 +269692,11 @@ name: Warburg micro syndrome 2 def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the RAB3GAP2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "micro syndrome 2" EXACT [DOID:0110717] synonym: "micro syndrome 2" RELATED [OMIM:614225] +synonym: "RAB3GAP2 Warburg micro syndrome" EXACT [MONDO:design_pattern] synonym: "WARBM2" EXACT [DOID:0110717, MONDO:Lexical, OMIM:614225] synonym: "Warburg micro syndrome 2" EXACT [MONDO:Lexical, OMIM:614225] synonym: "WARBURG micro syndrome 2; WARBM2" RELATED [OMIM:614225] +synonym: "Warburg micro syndrome caused by mutation in RAB3GAP2" EXACT [MONDO:design_pattern] synonym: "Warburg micro syndrome type 2" EXACT [DOID:0110717, MONDORULE:1, OMIM:614225] xref: DOID:0110717 {source="MONDO:equivalentTo"} xref: ICD10:Q87.0 {source="DOID:0110717"} @@ -265980,8 +269713,10 @@ property_value: confidence "0.8609986602670641" xsd:double id: MONDO:0013642 name: holoprosencephaly 11 def: "Any holoprosencephaly in which the cause of the disease is a mutation in the CDON gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CDON holoprosencephaly" EXACT [MONDO:design_pattern] synonym: "holoprosencephaly 11" EXACT [MONDO:Lexical, OMIM:614226] synonym: "holoprosencephaly 11; HPE11" RELATED [OMIM:614226] +synonym: "holoprosencephaly caused by mutation in CDON" EXACT [MONDO:design_pattern] synonym: "holoprosencephaly type 11" EXACT [DOID:0110877, MONDORULE:2, OMIM:614226] synonym: "HPE11" EXACT [DOID:0110877, MONDO:Lexical, OMIM:614226] xref: DOID:0110877 {source="MONDO:equivalentTo"} @@ -266012,6 +269747,7 @@ def: "Any Charcot-Marie-tooth disease in which the cause of the disease is a mut subset: ordo_disease {source="Orphanet:284232"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2O" EXACT [DOID:0110175] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2O" EXACT [DOID:0110175] +synonym: "Charcot-Marie-tooth disease caused by mutation in DYNC1H1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2O" RELATED [GARD:0012434] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2O" RELATED [OMIM:614228] synonym: "Charcot-Marie-Tooth disease, axonal, type 2O" RELATED [MONDO:Lexical, OMIM:614228] @@ -266019,13 +269755,14 @@ synonym: "Charcot-Marie-Tooth disease, axonal, type 2O; CMT2O" RELATED [OMIM:614 synonym: "Charcot-Marie-Tooth neuropathy axonal type 2O" EXACT [DOID:0110175] synonym: "Charcot-Marie-Tooth neuropathy, axonal, type 2O" RELATED [OMIM:614228] synonym: "CMT2O" EXACT [MONDO:Lexical, OMIM:614228, Orphanet:284232] +synonym: "DYNC1H1 Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] xref: DOID:0110175 {source="MONDO:equivalentTo"} xref: GARD:0012434 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="DOID:0110175", source="ORDO:284232/attributed", source="Orphanet:284232", source="ORDO:284232/ntbt"} xref: OMIM:614228 {source="DOID:0110175", source="Orphanet:284232", source="MONDO:equivalentTo", source="ORDO:284232/e"} xref: Orphanet:284232 {source="DOID:0110175", source="OMIM:614228", source="MONDO:equivalentTo"} xref: UMLS:C3280220 {source="NCBI:mim2gene_medline", source="OMIM:614228", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:614228", source="Orphanet:284232/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110175/inferred", source="MONDO:Redundant", source="OMIM:614228", source="Orphanet:284232/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110175", source="Orphanet:284232"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2961 ! DYNC1H1 @@ -266039,10 +269776,12 @@ def: "Any autosomal recessive syndromic cerebellar ataxia in which the cause of subset: ordo_disease {source="Orphanet:284271"} synonym: "autosomal recessive cerebellar ataxia-psychomotor retardation syndrome" RELATED [Orphanet:284271] synonym: "autosomal recessive spinocerebellar ataxia type 11" EXACT [DOID:0080063, MONDORULE:2, Orphanet:284271] +synonym: "autosomal recessive syndromic cerebellar ataxia caused by mutation in SYT14" EXACT [MONDO:design_pattern] synonym: "SCAR11" EXACT [MONDO:Lexical, OMIM:614229, Orphanet:284271] synonym: "spinocerebellar ataxia, autosomal recessive 11" RELATED [MONDO:Lexical, OMIM:614229] synonym: "spinocerebellar ataxia, autosomal recessive 11; SCAR11" RELATED [OMIM:614229] synonym: "spinocerebellar ataxia, autosomal recessive type 11" EXACT [MONDORULE:2, OMIM:614229] +synonym: "SYT14 autosomal recessive syndromic cerebellar ataxia" EXACT [MONDO:design_pattern] xref: DOID:0080063 {source="MONDO:equivalentTo"} xref: ICD10:G11.1 {source="Orphanet:284271", source="ORDO:284271/ntbt", source="ORDO:284271/attributed"} xref: OMIM:614229 {source="Orphanet:284271", source="ORDO:284271/e", source="DOID:0080063", source="MONDO:equivalentTo"} @@ -266116,7 +269855,7 @@ xref: UMLS:C1835039 {source="Orphanet:79146", source="MONDO:superClassOf"} xref: UMLS:C1840392 {source="Orphanet:79146", source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} xref: UMLS:C2681535 {source="NCBI:mim2gene_medline", source="OMIM:614233"} xref: UMLS:CN205811 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0019289 {source="Orphanet:79146", source="linkedlifedata"} ! hyperpigmentation of the skin +is_a: MONDO:0019289 {source="Orphanet:79146", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin property_value: confidence "1.6470588235294126" xsd:double [Term] @@ -266132,7 +269871,7 @@ xref: DOID:0110706 {source="MONDO:equivalentTo"} xref: OMIM:614237 {source="MONDO:equivalentTo", source="DOID:0110706"} xref: Orphanet:55654 {source="OMIM:614237", source="MONDO:subClassOf"} xref: UMLS:C3280252 {source="OMIM:614237", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003037 {source="MONDO:Redundant", source="OMIM:614237"} ! hypotrichosis +is_a: MONDO:0003037 {source="DOID:0110706", source="MONDO:Redundant", source="OMIM:614237"} ! hypotrichosis is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex property_value: confidence "0.1864800188354636" xsd:double @@ -266149,7 +269888,7 @@ xref: DOID:0110707 {source="MONDO:equivalentTo"} xref: OMIM:614238 {source="DOID:0110707", source="MONDO:equivalentTo"} xref: Orphanet:55654 {source="OMIM:614238", source="MONDO:subClassOf"} xref: UMLS:C3280253 {source="NCBI:mim2gene_medline", source="OMIM:614238", source="MONDO:equivalentTo"} -is_a: MONDO:0003037 {source="MONDO:Redundant", source="OMIM:614238"} ! hypotrichosis +is_a: MONDO:0003037 {source="DOID:0110707", source="MONDO:Redundant", source="OMIM:614238"} ! hypotrichosis is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex property_value: confidence "0.1864800188354636" xsd:double @@ -266157,8 +269896,10 @@ property_value: confidence "0.1864800188354636" xsd:double id: MONDO:0013651 name: intellectual disability, autosomal recessive 18 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MED23 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MED23" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic mental retardation-18" RELATED [GARD:0012233] synonym: "MED23" RELATED [GARD:0012233] +synonym: "MED23 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 18" RELATED [MONDO:Lexical, OMIM:614249] synonym: "mental retardation, autosomal recessive 18; MRT18" RELATED [OMIM:614249] synonym: "mental retardation, autosomal recessive type 18" EXACT [MONDORULE:2, OMIM:614249] @@ -266175,8 +269916,11 @@ property_value: confidence "2.6923076923076916" xsd:double [Term] id: MONDO:0013652 name: narcolepsy 7 +def: "Any narcolepsy in which the cause of the disease is a mutation in the MOG gene." [MONDO:design_pattern] +synonym: "MOG narcolepsy" EXACT [MONDO:design_pattern] synonym: "narcolepsy 7" EXACT [MONDO:Lexical, OMIM:614250] synonym: "narcolepsy 7; NRCLP7" RELATED [OMIM:614250] +synonym: "narcolepsy caused by mutation in MOG" EXACT [MONDO:design_pattern] synonym: "narcolepsy type 7" EXACT [MONDORULE:1, OMIM:614250] synonym: "NRCLP7" RELATED [MONDO:Lexical, OMIM:614250] xref: OMIM:614250 {source="MONDO:equivalentTo"} @@ -266194,6 +269938,8 @@ property_value: confidence "4.333333333333333" xsd:double id: MONDO:0013653 name: Parkinson disease 18, autosomal dominant, susceptibility to def: "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the EIF4G1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "EIF4G1 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern] +synonym: "hereditary late onset Parkinson disease caused by mutation in EIF4G1" EXACT [MONDO:design_pattern] synonym: "PARK18" RELATED [MONDO:Lexical, OMIM:614251] synonym: "Parkinson disease 18, autosomal dominant, susceptibility to" EXACT [MONDO:Lexical, OMIM:614251] synonym: "Parkinson disease 18, autosomal dominant, susceptibility to; PARK18" RELATED [OMIM:614251] @@ -266226,6 +269972,8 @@ name: intellectual disability, autosomal dominant 8 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the GRIN1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 8" EXACT [DOID:0070038] synonym: "autosomal dominant non-syndromic intellectual disability 8" RELATED [DOID:0070038] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GRIN1" EXACT [MONDO:design_pattern] +synonym: "GRIN1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 8" RELATED [MONDO:Lexical, OMIM:614254] synonym: "mental retardation, autosomal dominant 8, formerly" RELATED [OMIM:614254] synonym: "mental retardation, autosomal dominant 8; MRD8" RELATED [OMIM:614254] @@ -266251,6 +269999,8 @@ name: intellectual disability, autosomal dominant 9 def: "An autosomal dominant condition caused by mutation(s) in the KIF1A gene, encoding kinesin-like protein KIF1A. It is characterized by microcephaly, intellectual disability, and delayed psychomotor development. The condition is progressive, occurs in early infancy, and is of variable severity." [NCIT:C133742] synonym: "autosomal dominant mental retardation 9" EXACT [DOID:0070039] synonym: "autosomal dominant non-syndromic intellectual disability 9" RELATED [DOID:0070039] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in KIF1A" EXACT [MONDO:design_pattern] +synonym: "KIF1A autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 9" RELATED [MONDO:Lexical, OMIM:614255] synonym: "mental retardation, autosomal dominant 9; MRD9" RELATED [OMIM:614255] synonym: "mental retardation, autosomal dominant type 9" EXACT [MONDORULE:1, OMIM:614255] @@ -266273,6 +270023,8 @@ name: intellectual disability, autosomal dominant 10 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CACNG2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 10" EXACT [DOID:0070040] synonym: "autosomal dominant non-syndromic intellectual disability 10" RELATED [DOID:0070040] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in CACNG2" EXACT [MONDO:design_pattern] +synonym: "CACNG2 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 10" RELATED [MONDO:Lexical, OMIM:614256] synonym: "mental retardation, autosomal dominant 10; MRD10" RELATED [OMIM:614256] synonym: "mental retardation, autosomal dominant type 10" EXACT [MONDORULE:2, OMIM:614256] @@ -266293,6 +270045,8 @@ name: intellectual disability, autosomal dominant 11 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EPB41L1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 11" EXACT [DOID:0070041] synonym: "autosomal dominant non-syndromic intellectual disability 11" RELATED [DOID:0070041] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in EPB41L1" EXACT [MONDO:design_pattern] +synonym: "EPB41L1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 11" RELATED [MONDO:Lexical, OMIM:614257] synonym: "mental retardation, autosomal dominant 11; MRD11" RELATED [OMIM:614257] synonym: "mental retardation, autosomal dominant type 11" EXACT [MONDORULE:2, OMIM:614257] @@ -266398,7 +270152,7 @@ xref: SCTID:302914006 {source="DOID:9206", source="EFO:0000280"} xref: SCTID:76355008 {source="DOID:9206"} xref: UMLS:C0004763 {source="NCBI:mim2gene_medline", source="DOID:9206", source="NCIT:C2891", source="OMIM:614266"} xref: UMLS:C0279628 {source="MONDO:relatedTo", source="OMIM:614266"} -is_a: MONDO:0003749 {source="DOID:9206", source="MESH:D001471", source="linkedlifedata"} ! esophageal disease +is_a: MONDO:0003749 {source="DOID:9206", source="MESH:D001471", source="NCIT:C2891/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! esophageal disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18831 {source="mim2gene_medgen"} ! CTHRC1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24268 {source="mim2gene_medgen"} ! ASCC1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7376 {source="mim2gene_medgen"} ! MSR1 @@ -266458,6 +270212,8 @@ property_value: confidence "1.1309583424662981" xsd:double id: MONDO:0013666 name: Stickler syndrome, type 5 def: "Any autosomal recessive Stickler syndrome in which the cause of the disease is a mutation in the COL9A2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive Stickler syndrome caused by mutation in COL9A2" EXACT [MONDO:design_pattern] +synonym: "COL9A2 autosomal recessive Stickler syndrome" EXACT [MONDO:design_pattern] synonym: "STICKLER syndrome, type V" RELATED [MONDO:Lexical, OMIM:614284] synonym: "STICKLER syndrome, type V; STL5" RELATED [OMIM:614284] synonym: "STL5" RELATED [MONDO:Lexical, OMIM:614284] @@ -266512,6 +270268,8 @@ synonym: "breast-ovarian cancer, familial, susceptibility to, 4" EXACT [MONDO:Le synonym: "breast-ovarian cancer, familial, susceptibility to, 4; BROVCA4" RELATED [OMIM:614291] synonym: "breast-ovarian cancer, familial, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614291] synonym: "BROVCA4" RELATED [MONDO:Lexical, OMIM:614291] +synonym: "hereditary breast ovarian cancer syndrome caused by mutation in RAD51D" EXACT [MONDO:design_pattern] +synonym: "RAD51D hereditary breast ovarian cancer syndrome" EXACT [MONDO:design_pattern] synonym: "susceptibility to familial breast-ovarian cancer 4" RELATED [OMIM:614291] xref: OMIM:614291 {source="MONDO:equivalentTo"} xref: Orphanet:145 {source="OMIM:614291", source="MONDO:subClassOf"} @@ -266539,11 +270297,13 @@ property_value: confidence "29.333333333333442" xsd:double id: MONDO:0013671 name: hydatidiform mole, recurrent, 2 def: "Any complete hydatidiform mole in which the cause of the disease is a mutation in the KHDC3L gene." [MONDO:patterns/disease_series_by_gene] +synonym: "complete hydatidiform mole caused by mutation in KHDC3L" EXACT [MONDO:design_pattern] synonym: "hydatidiform Mole, complete" RELATED [OMIM:614293] synonym: "hydatidiform mole, recurrent, 2" EXACT [MONDO:Lexical, OMIM:614293] synonym: "hydatidiform MOLE, recurrent, 2; HYDM2" RELATED [OMIM:614293] synonym: "hydatidiform Mole, recurrent, type 2" EXACT [MONDORULE:1, OMIM:614293] synonym: "HYDM2" RELATED [MONDO:Lexical, OMIM:614293] +synonym: "KHDC3L complete hydatidiform mole" EXACT [MONDO:design_pattern] xref: OMIM:614293 {source="MONDO:equivalentTo"} xref: Orphanet:254688 {source="MONDO:subClassOf", source="OMIM:614293"} xref: Orphanet:99927 {source="MONDO:subClassOf", source="OMIM:614293"} @@ -266596,6 +270356,7 @@ id: MONDO:0013674 name: neurodegeneration with brain iron accumulation 4 def: "Mitochondrial membrane protein-sssociated neurodegeneration (MPAN), also known as neurogeneration with brain iron accumulation (NBIA) due to C19orf12 mutations, is an autosomal recessive neurodegenerative disorder characterized by iron accumulation in specific regions of the brain, usually the basal ganglia, and associated with slowly progressive pyramidal (spasticity) and extrapyramidal (dystonia) signs, motor axonal neuropathy, optic atrophy, cognitive decline, and neuropsychiatric abnormalities." [Orphanet:289560] subset: ordo_disease {source="Orphanet:289560"} +synonym: "C19orf12 neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern] synonym: "mitochondrial membrane protein-associated neurodegeneration" RELATED [Orphanet:289560] synonym: "mitochondrial Protein-associated neurodegeneration" EXACT [DOID:0110738] synonym: "mitochondrial Protein-associated neurodegeneration" RELATED [OMIM:614298] @@ -266604,6 +270365,7 @@ synonym: "NBIA due to C19orf12 mutation" EXACT [DOID:0110738, Orphanet:289560] synonym: "NBIA4" EXACT [DOID:0110738, MONDO:Lexical, OMIM:614298, Orphanet:289560] synonym: "neurodegeneration with brain iron accumulation 4" EXACT [MONDO:Lexical, OMIM:614298] synonym: "neurodegeneration with brain iron accumulation 4; NBIA4" RELATED [OMIM:614298] +synonym: "neurodegeneration with brain iron accumulation caused by mutation in C19orf12" EXACT [MONDO:design_pattern] synonym: "neurodegeneration with brain iron accumulation due to C19orf12 mutation" EXACT [DOID:0110738, Orphanet:289560] synonym: "neurodegeneration with brain iron accumulation type 4" EXACT [DOID:0110738, MONDORULE:1, OMIM:614298, Orphanet:289560] xref: DOID:0110738 {source="MONDO:equivalentTo"} @@ -266628,6 +270390,8 @@ name: multiple mitochondrial dysfunctions syndrome 2 def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the BOLA3 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:401874"} synonym: "BOLA3 deficiency" EXACT [Orphanet:401874] +synonym: "BOLA3 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern] +synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in BOLA3" EXACT [MONDO:design_pattern] synonym: "MMDS2" RELATED [MONDO:Lexical, OMIM:614299] synonym: "multiple mitochondrial dysfunctions syndrome 2" EXACT [MONDO:Lexical, OMIM:614299] synonym: "multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia" RELATED [OMIM:614299] @@ -266664,7 +270428,7 @@ xref: MESH:C567015 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:614300 {source="Orphanet:289290", source="DOID:0111038", source="MONDO:equivalentTo", source="ORDO:289290/e"} xref: Orphanet:289290 {source="OMIM:614300", source="DOID:0111038", source="MONDO:equivalentTo"} xref: UMLS:C3280381 {source="OMIM:614300", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0000351 {source="DC-OMIM:614300", source="DOID:0111038"} ! hypermethioninemia (disease) +is_a: MONDO:0000351 {source="DC-OMIM:614300", source="DOID:0111038"} ! disorder of methionine catabolism is_a: MONDO:0019058 {source="Orphanet:289290"} ! neurometabolic disease is_a: MONDO:0019222 {source="Orphanet:289290"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/257 {source="mim2gene_medgen"} ! ADK @@ -266674,9 +270438,11 @@ property_value: confidence "13.769230769230768" xsd:double id: MONDO:0013677 name: Emery-Dreifuss muscular dystrophy 7, autosomal dominant def: "Any autosomal dominant Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the TMEM43 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant Emery-Dreifuss muscular dystrophy caused by mutation in TMEM43" EXACT [MONDO:design_pattern] synonym: "EDMD7" RELATED [MONDO:Lexical, OMIM:614302] synonym: "Emery-Dreifuss muscular dystrophy 7, autosomal dominant" EXACT [MONDO:Lexical, OMIM:614302] synonym: "EMERY-Dreifuss muscular dystrophy 7, autosomal dominant; EDMD7" RELATED [OMIM:614302] +synonym: "TMEM43 autosomal dominant Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern] xref: OMIM:614302 {source="MONDO:equivalentTo"} xref: Orphanet:261 {source="OMIM:614302", source="MONDO:subClassOf"} xref: Orphanet:98853 {source="OMIM:614302", source="MONDO:subClassOf"} @@ -266714,9 +270480,11 @@ property_value: confidence "3.687499999999999" xsd:double [Term] id: MONDO:0013679 name: sclerosteosis 2 -def: "A sclerosteosis that has_material_basis_in heterozygous or homozygous mutation in the LRP4 gene on chromosome 11p11." [DOID:0060757, PMID:21471202] +def: "Any sclerosteosis in which the cause of the disease is a mutation in the LRP4 gene." [MONDO:design_pattern] +synonym: "LRP4 sclerosteosis" EXACT [MONDO:design_pattern] synonym: "sclerosteosis 2" EXACT [MONDO:Lexical, OMIM:614305] synonym: "sclerosteosis 2; SOST2" RELATED [OMIM:614305] +synonym: "sclerosteosis caused by mutation in LRP4" EXACT [MONDO:design_pattern] synonym: "sclerosteosis type 2" EXACT [DOID:0060757, MONDORULE:1, OMIM:614305] synonym: "SOST2" EXACT [DOID:0060757, MONDO:Lexical, OMIM:614305] xref: DOID:0060757 {source="MONDO:equivalentTo"} @@ -266812,6 +270580,8 @@ property_value: confidence "2.5986147714285717" xsd:double id: MONDO:0013685 name: pancreatic cancer, susceptibility to, 4 def: "Any familial pancreatic carcinoma in which the cause of the disease is a mutation in the BRCA1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BRCA1 familial pancreatic carcinoma" EXACT [MONDO:design_pattern] +synonym: "familial pancreatic carcinoma caused by mutation in BRCA1" EXACT [MONDO:design_pattern] synonym: "pancreatic cancer, susceptibility to, 4" EXACT [MONDO:Lexical, OMIM:614320] synonym: "pancreatic cancer, susceptibility to, 4; PNCA4" RELATED [OMIM:614320] synonym: "pancreatic cancer, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614320] @@ -266847,6 +270617,7 @@ id: MONDO:0013687 name: autosomal recessive spinocerebellar ataxia 12 def: "Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency is a rare autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome characterized by early-childhood onset of cerebellar ataxia associated with generalized tonic-clonic epilepsy and psychomotor development delay, dysarthria, gaze-evoked nystagmus and learning disability. Other features in some patients include upper motor neuron signs with leg spasticity and extensor plantar responses, and mild cerebellar atrophy on brain MRI." [Orphanet:284282] subset: ordo_disease {source="Orphanet:284282"} +synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in WWOX" EXACT [MONDO:design_pattern] synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency" RELATED [Orphanet:284282] synonym: "autosomal recessive spinocerebellar ataxia type 12" EXACT [DOID:0080060, MONDORULE:2, Orphanet:284282] synonym: "SCAR12" EXACT [MONDO:Lexical, OMIM:614322, Orphanet:284282] @@ -266854,6 +270625,7 @@ synonym: "spinocerebellar ataxia with mental retardation and epilepsy" RELATED [ synonym: "spinocerebellar ataxia, autosomal recessive 12" RELATED [MONDO:Lexical, OMIM:614322] synonym: "spinocerebellar ataxia, autosomal recessive 12; SCAR12" RELATED [OMIM:614322] synonym: "spinocerebellar ataxia, autosomal recessive type 12" EXACT [MONDORULE:2, OMIM:614322] +synonym: "WWOX autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" EXACT [MONDO:design_pattern] xref: DOID:0080060 {source="MONDO:equivalentTo"} xref: ICD10:G11.1 {source="Orphanet:284282", source="ORDO:284282/ntbt", source="ORDO:284282/attributed"} xref: OMIM:614322 {source="Orphanet:284282", source="ORDO:284282/e", source="DOID:0080060", source="MONDO:equivalentTo"} @@ -266897,7 +270669,7 @@ xref: UMLS:C0263579 {source="NCIT:C3924", source="OMIM:614323", source="MONDO:eq xref: UMLS:C1304501 {source="NCBI:mim2gene_medline", source="OMIM:614323", source="ORDO:79150/e", source="MONDO:equivalentTo", source="Orphanet:79150"} is_a: MONDO:0006499 {source="NCIT:C3924"} ! hamartoma (disease) is_a: MONDO:0011500 ! Becker nevus syndrome -is_a: MONDO:0019289 {source="Orphanet:79150", source="linkedlifedata"} ! hyperpigmentation of the skin +is_a: MONDO:0019289 {source="Orphanet:79150", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin property_value: confidence "0.125" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11004/linear-and-whorled-nevoid-hypermelanosis xsd:anyURI {source="GARD:0011004"} @@ -266905,10 +270677,12 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11004/linear- id: MONDO:0013689 name: ovarian dysgenesis 3 def: "Any 46 XX gonadal dysgenesis in which the cause of the disease is a mutation in the PSMC3IP gene." [MONDO:patterns/disease_series_by_gene] +synonym: "46 XX gonadal dysgenesis caused by mutation in PSMC3IP" EXACT [MONDO:design_pattern] synonym: "ODG3" RELATED [MONDO:Lexical, OMIM:614324] synonym: "ovarian dysgenesis 3" EXACT [MONDO:Lexical, OMIM:614324] synonym: "ovarian dysgenesis 3; ODG3" RELATED [OMIM:614324] synonym: "ovarian dysgenesis type 3" EXACT [MONDORULE:1, OMIM:614324] +synonym: "PSMC3IP 46 XX gonadal dysgenesis" EXACT [MONDO:design_pattern] xref: OMIM:614324 {source="MONDO:equivalentTo"} xref: Orphanet:243 {source="OMIM:614324", source="MONDO:subClassOf"} xref: UMLS:C3280471 {source="OMIM:614324", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -266922,8 +270696,10 @@ property_value: confidence "2.3325714285714296" xsd:double id: MONDO:0013690 name: Pitt-Hopkins-like syndrome 2 def: "Any Pitt-Hopkins-like syndrome in which the cause of the disease is a mutation in the NRXN1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "NRXN1 Pitt-Hopkins-like syndrome" EXACT [MONDO:design_pattern] synonym: "Pitt-Hopkins-like syndrome 2" EXACT [MONDO:Lexical, OMIM:614325] synonym: "Pitt-Hopkins-LIKE syndrome 2; PTHSL2" RELATED [OMIM:614325] +synonym: "Pitt-Hopkins-like syndrome caused by mutation in NRXN1" EXACT [MONDO:design_pattern] synonym: "Pitt-Hopkins-Like syndrome type 2" EXACT [MONDORULE:1, OMIM:614325] synonym: "PTHSL2" RELATED [MONDO:Lexical, OMIM:614325] xref: OMIM:614325 {source="MONDO:equivalentTo"} @@ -266985,9 +270761,11 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013693 name: inflammatory skin and bowel disease, neonatal, 1 def: "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the ADAM17 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ADAM17 neonatal inflammatory skin and bowel disease" EXACT [MONDO:design_pattern] synonym: "inflammatory skin and bowel disease, neonatal, 1" EXACT [MONDO:Lexical, OMIM:614328] synonym: "inflammatory skin and bowel disease, neonatal, 1; NISBD1" RELATED [OMIM:614328] synonym: "inflammatory skin and bowel disease, neonatal, type 1" EXACT [MONDORULE:1, OMIM:614328] +synonym: "neonatal inflammatory skin and bowel disease caused by mutation in ADAM17" EXACT [MONDO:design_pattern] synonym: "NISBD1" RELATED [MONDO:Lexical, OMIM:614328] xref: OMIM:614328 {source="MONDO:equivalentTo"} xref: Orphanet:294023 {source="OMIM:614328", source="MONDO:subClassOf"} @@ -267016,7 +270794,9 @@ def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease synonym: "colon cancer, hereditary nonpolyposis, type 6" RELATED [OMIM:614331] synonym: "colorectal cancer, hereditary nonpolyposis, type 6" EXACT [MONDO:Lexical, OMIM:614331] synonym: "colorectal cancer, hereditary nonpolyposis, type 6; HNPCC6" RELATED [OMIM:614331] +synonym: "hereditary nonpolyposis colon cancer caused by mutation in TGFBR2" EXACT [MONDO:design_pattern] synonym: "HNPCC6" RELATED [MONDO:Lexical, OMIM:614331] +synonym: "TGFBR2 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern] xref: MESH:C566039 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:614331 {source="MONDO:equivalentTo"} xref: Orphanet:144 {source="MONDO:subClassOf", source="OMIM:614331"} @@ -267071,7 +270851,9 @@ name: colorectal cancer, hereditary nonpolyposis, type 4 def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the PMS2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "colorectal cancer, hereditary nonpolyposis, type 4" EXACT [MONDO:Lexical, OMIM:614337] synonym: "colorectal cancer, hereditary nonpolyposis, type 4; HNPCC4" RELATED [OMIM:614337] +synonym: "hereditary nonpolyposis colon cancer caused by mutation in PMS2" EXACT [MONDO:design_pattern] synonym: "HNPCC4" RELATED [MONDO:Lexical, OMIM:614337] +synonym: "PMS2 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern] xref: MESH:C563971 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:614337 {source="MONDO:equivalentTo"} xref: Orphanet:144 {source="OMIM:614337", source="MONDO:subClassOf"} @@ -267133,6 +270915,8 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0013702 name: intellectual disability, autosomal recessive 27 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LINS1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in LINS1" EXACT [MONDO:design_pattern] +synonym: "LINS1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 27" RELATED [MONDO:Lexical, OMIM:614340] synonym: "mental retardation, autosomal recessive 27; MRT27" RELATED [OMIM:614340] synonym: "mental retardation, autosomal recessive type 27" EXACT [MONDORULE:2, OMIM:614340] @@ -267232,7 +271016,9 @@ name: colorectal cancer, hereditary nonpolyposis, type 5 def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MSH6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "colorectal cancer, hereditary nonpolyposis, type 5" EXACT [MONDO:Lexical, OMIM:614350] synonym: "colorectal cancer, hereditary nonpolyposis, type 5; HNPCC5" RELATED [OMIM:614350] +synonym: "hereditary nonpolyposis colon cancer caused by mutation in MSH6" EXACT [MONDO:design_pattern] synonym: "HNPCC5" RELATED [MONDO:Lexical, OMIM:614350] +synonym: "MSH6 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern] xref: MESH:C563456 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:614350 {source="MONDO:equivalentTo"} xref: Orphanet:144 {source="OMIM:614350", source="MONDO:subClassOf"} @@ -267267,6 +271053,8 @@ id: MONDO:0013712 name: surfactant metabolism dysfunction, pulmonary, 5 def: "Any hereditary pulmonary alveolar proteinosis in which the cause of the disease is a mutation in the CSF2RB gene." [MONDO:patterns/disease_series_by_gene] synonym: "Csf2Rb deficiency" RELATED [OMIM:614370] +synonym: "CSF2RB hereditary pulmonary alveolar proteinosis" EXACT [MONDO:design_pattern] +synonym: "hereditary pulmonary alveolar proteinosis caused by mutation in CSF2RB" EXACT [MONDO:design_pattern] synonym: "Pap due to Csf2Rb deficiency" RELATED [OMIM:614370] synonym: "pulmonary alveolar proteinosis 5" RELATED [OMIM:614370] synonym: "SMDP5" RELATED [MONDO:Lexical, OMIM:614370] @@ -267331,11 +271119,13 @@ synonym: "ALS16" EXACT [DOID:0060207, MONDO:Lexical, OMIM:614373] synonym: "amyotrophic lateral sclerosis 16" EXACT [DOID:0060207, OMIM:614373] synonym: "amyotrophic lateral sclerosis 16, juvenile" RELATED [DOID:0060207, MONDO:Lexical, OMIM:614373] synonym: "amyotrophic lateral sclerosis 16, juvenile; ALS16" RELATED [OMIM:614373] +synonym: "amyotrophic lateral sclerosis caused by mutation in SIGMAR1" EXACT [MONDO:design_pattern] +synonym: "SIGMAR1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0060207 {source="MONDO:equivalentTo"} xref: OMIM:614373 {source="DOID:0060207", source="MONDO:equivalentTo"} xref: Orphanet:300605 {source="MONDO:subClassOf", source="OMIM:614373"} xref: UMLS:C3280587 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614373"} -is_a: MONDO:0004976 {source="MONDO:Redundant", source="OMIM:614373"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0060207", source="MONDO:Redundant", source="OMIM:614373"} ! amyotrophic lateral sclerosis is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis is_a: MONDO:0015952 {source="MONDO:Redundant"} ! genetic neurodegenerative disease is_a: MONDO:0017593 {source="ORDO:300605/btnt"} ! juvenile amyotrophic lateral sclerosis @@ -267363,10 +271153,12 @@ def: "Any Jeune syndrome in which the cause of the disease is a mutation in the synonym: "asphyxiating thoracic dystrophy 5" EXACT [OMIM:614376] synonym: "asphyxiating thoracic dystrophy type 5" EXACT [DOID:0110089, MONDORULE:1] synonym: "ATD5" EXACT [DOID:0110089] +synonym: "Jeune syndrome caused by mutation in WDR19" EXACT [MONDO:design_pattern] synonym: "short-rib thoracic dysplasia 5 with or without polydactyly" EXACT [DOID:0110089] synonym: "short-rib thoracic dysplasia 5 with or without polydactyly" RELATED [MONDO:Lexical, OMIM:614376] synonym: "short-rib thoracic dysplasia 5 with or without polydactyly; SRTD5" RELATED [OMIM:614376] synonym: "SRTD5" EXACT [DOID:0110089, MONDO:Lexical, OMIM:614376] +synonym: "WDR19 Jeune syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110089 {source="MONDO:equivalentTo"} xref: ICD10:Q77.2 {source="DOID:0110089"} xref: OMIM:614376 {source="DOID:0110089", source="MONDO:equivalentTo"} @@ -267395,10 +271187,13 @@ is_a: MONDO:0019005 {source="DC-OMIM:614377", source="DOID:0111121", source="OMI [Term] id: MONDO:0013719 name: cranioectodermal dysplasia 4 +def: "Any craniometaphyseal dysplasia, autosomal recessive in which the cause of the disease is a mutation in the WDR19 gene." [MONDO:design_pattern] synonym: "CED4" RELATED [MONDO:Lexical, OMIM:614378] synonym: "cranioectodermal dysplasia 4" EXACT [MONDO:Lexical, OMIM:614378] synonym: "CRANIOECTODERMAL dysplasia 4; CED4" RELATED [OMIM:614378] synonym: "Cranioectodermal dysplasia type 4" EXACT [MONDORULE:1, OMIM:614378] +synonym: "craniometaphyseal dysplasia, autosomal recessive caused by mutation in WDR19" EXACT [MONDO:design_pattern] +synonym: "WDR19 craniometaphyseal dysplasia, autosomal recessive" EXACT [MONDO:design_pattern] xref: OMIM:614378 {source="MONDO:equivalentTo"} xref: Orphanet:1515 {source="OMIM:614378", source="MONDO:subClassOf"} xref: UMLS:C3280616 {source="NCBI:mim2gene_medline", source="OMIM:614378", source="MONDO:equivalentTo"} @@ -267413,8 +271208,10 @@ property_value: confidence "2.47142857142857" xsd:double id: MONDO:0013720 name: complement component 4b deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "C4B classic complement early component deficiency" EXACT [MONDO:design_pattern] synonym: "C4B deficiency" RELATED [OMIM:614379] synonym: "C4BD" RELATED [MONDO:Lexical, OMIM:614379] +synonym: "classic complement early component deficiency caused by mutation in C4B" EXACT [MONDO:design_pattern] synonym: "complement component 4b deficiency" EXACT [MONDO:Lexical, OMIM:614379] synonym: "complement component 4B deficiency; C4BD" RELATED [OMIM:614379] xref: DOID:0060298 {source="MONDO:equivalentTo"} @@ -267433,8 +271230,10 @@ property_value: confidence "1.1504873407530516" xsd:double id: MONDO:0013721 name: complement component 4a deficiency def: "Any classic complement early component deficiency in which the cause of the disease is a mutation in the C4A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "C4A classic complement early component deficiency" EXACT [MONDO:design_pattern] synonym: "C4A deficiency" RELATED [OMIM:614380] synonym: "C4AD" RELATED [MONDO:Lexical, OMIM:614380] +synonym: "classic complement early component deficiency caused by mutation in C4A" EXACT [MONDO:design_pattern] synonym: "complement component 4a deficiency" EXACT [MONDO:Lexical, OMIM:614380] synonym: "complement component 4A deficiency; C4AD" RELATED [OMIM:614380] xref: DOID:0060297 {source="MONDO:equivalentTo"} @@ -267456,14 +271255,16 @@ id: MONDO:0013722 name: hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism def: "Any leukodystrophy in which the cause of the disease is a mutation in the POLR3B gene." [MONDO:patterns/disease_series_by_gene] synonym: "HLD8" EXACT [DOID:0060797, MONDO:Lexical, OMIM:614381] +synonym: "leukodystrophy caused by mutation in POLR3B" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism" RELATED [MONDO:Lexical, OMIM:614381] synonym: "leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism; HLD8" RELATED [OMIM:614381] +synonym: "POLR3B leukodystrophy" EXACT [MONDO:design_pattern] xref: DOID:0060797 {source="MONDO:equivalentTo"} xref: ICD10:G11.1 {source="DOID:0060797"} xref: OMIM:614381 {source="DOID:0060797", source="MONDO:equivalentTo"} xref: Orphanet:88637 {source="MONDO:subClassOf", source="OMIM:614381"} xref: UMLS:C3280644 {source="NCBI:mim2gene_medline", source="OMIM:614381", source="MONDO:equivalentTo"} -is_a: MONDO:0019046 {source="DOID:0060797", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:614381"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0060797", source="DOID:0060797/inferred", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:614381"} ! leukodystrophy is_a: MONDO:0019505 {source="ORDO:88637/btnt"} ! hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30348 ! POLR3B @@ -267475,10 +271276,12 @@ id: MONDO:0013723 name: bacteremia, susceptibility to, 1 def: "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the TIRAP gene." [MONDO:patterns/disease_series_by_gene] synonym: "bacteremia, resistance to" RELATED [OMIM:614382] +synonym: "bacteremia, susceptibility caused by mutation in TIRAP" EXACT [MONDO:design_pattern] synonym: "bacteremia, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:614382] synonym: "bacteremia, susceptibility to, 1; BACTS1" RELATED [OMIM:614382] synonym: "bacteremia, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:614382] synonym: "BACTS1" RELATED [MONDO:Lexical, OMIM:614382] +synonym: "TIRAP bacteremia, susceptibility" EXACT [MONDO:design_pattern] xref: OMIM:614382 {source="MONDO:equivalentTo"} xref: UMLS:C3280645 {source="NCBI:mim2gene_medline", source="OMIM:614382"} xref: UMLS:C3280646 {source="OMIM:614382"} @@ -267491,10 +271294,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17 id: MONDO:0013724 name: bacteremia, susceptibility to, 2 def: "Any bacteremia, susceptibility in which the cause of the disease is a mutation in the CISH gene." [MONDO:patterns/disease_series_by_gene] +synonym: "bacteremia, susceptibility caused by mutation in CISH" EXACT [MONDO:design_pattern] synonym: "bacteremia, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:614383] synonym: "bacteremia, susceptibility to, 2; BACTS2" RELATED [OMIM:614383] synonym: "bacteremia, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:614383] synonym: "BACTS2" RELATED [MONDO:Lexical, OMIM:614383] +synonym: "CISH bacteremia, susceptibility" EXACT [MONDO:design_pattern] xref: OMIM:614383 {source="MONDO:equivalentTo"} xref: UMLS:C3280647 {source="NCBI:mim2gene_medline", source="OMIM:614383"} is_a: MONDO:0000108 {source="DC-OMIM:614383"} ! bacteremia, susceptibility @@ -267508,7 +271313,9 @@ name: colorectal cancer, hereditary nonpolyposis, type 7 def: "Any hereditary nonpolyposis colon cancer in which the cause of the disease is a mutation in the MLH3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "colorectal cancer, hereditary nonpolyposis, type 7" EXACT [MONDO:Lexical, OMIM:614385] synonym: "colorectal cancer, hereditary nonpolyposis, type 7; HNPCC7" RELATED [OMIM:614385] +synonym: "hereditary nonpolyposis colon cancer caused by mutation in MLH3" EXACT [MONDO:design_pattern] synonym: "HNPCC7" RELATED [MONDO:Lexical, OMIM:614385] +synonym: "MLH3 hereditary nonpolyposis colon cancer" EXACT [MONDO:design_pattern] xref: MESH:C565777 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:614385 {source="MONDO:equivalentTo"} xref: Orphanet:144 {source="MONDO:subClassOf", source="OMIM:614385"} @@ -267545,8 +271352,10 @@ name: pregnancy loss, recurrent, susceptibility to, 1 def: "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "abortion, spontaneous, recurrent" RELATED [OMIM:614389] synonym: "embryonic loss, recurrent" RELATED [OMIM:614389] +synonym: "F5 pregnancy loss, recurrent, susceptibility" EXACT [MONDO:design_pattern] synonym: "fetal loss, recurrent, susceptibility to" RELATED [OMIM:614389] synonym: "miscarriage, recurrent" RELATED [OMIM:614389] +synonym: "pregnancy loss, recurrent, susceptibility caused by mutation in F5" EXACT [MONDO:design_pattern] synonym: "pregnancy loss, recurrent, susceptibility to, 1" EXACT [MONDO:Lexical, OMIM:614389] synonym: "pregnancy loss, recurrent, susceptibility to, 1; RPRGL1" RELATED [OMIM:614389] synonym: "pregnancy loss, recurrent, susceptibility to, type 1" EXACT [MONDORULE:1, OMIM:614389] @@ -267567,6 +271376,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/35 id: MONDO:0013728 name: pregnancy loss, recurrent, susceptibility to, 2 def: "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the F2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "F2 pregnancy loss, recurrent, susceptibility" EXACT [MONDO:design_pattern] +synonym: "pregnancy loss, recurrent, susceptibility caused by mutation in F2" EXACT [MONDO:design_pattern] synonym: "pregnancy loss, recurrent, susceptibility to, 2" EXACT [MONDO:Lexical, OMIM:614390] synonym: "pregnancy loss, recurrent, susceptibility to, 2; RPRGL2" RELATED [OMIM:614390] synonym: "pregnancy loss, recurrent, susceptibility to, type 2" EXACT [MONDORULE:1, OMIM:614390] @@ -267582,6 +271393,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/35 id: MONDO:0013729 name: pregnancy loss, recurrent, susceptibility to, 3 def: "Any pregnancy loss, recurrent, susceptibility in which the cause of the disease is a mutation in the ANXA5 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ANXA5 pregnancy loss, recurrent, susceptibility" EXACT [MONDO:design_pattern] +synonym: "pregnancy loss, recurrent, susceptibility caused by mutation in ANXA5" EXACT [MONDO:design_pattern] synonym: "pregnancy loss, recurrent, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:614391] synonym: "pregnancy loss, recurrent, susceptibility to, 3; RPRGL3" RELATED [OMIM:614391] synonym: "pregnancy loss, recurrent, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:614391] @@ -267633,7 +271446,7 @@ xref: SCTID:234646005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0018133 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3063", source="Orphanet:39812", source="MONDO:equivalentTo"} xref: UMLS:C3280677 {source="NCBI:mim2gene_medline", source="OMIM:614395"} xref: UMLS:C3280678 {source="OMIM:614395"} -is_a: MONDO:0005046 {source="MESH:D006086", source="MONDO:Redundant"} ! immune system disease +is_a: MONDO:0005046 {source="MESH:D006086", source="MONDO:Redundant", source="linkedlifedata"} ! immune system disease is_a: MONDO:0020008 {source="Orphanet:39812"} ! rare immune disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5962 {source="mim2gene_medgen"} ! IL10 property_value: confidence "2.133333333333333" xsd:double @@ -267689,6 +271502,8 @@ synonym: "MCOPS11" RELATED [MONDO:Lexical, OMIM:614402] synonym: "microphthalmia, syndromic 11" EXACT [MONDO:Lexical, OMIM:614402] synonym: "microphthalmia, syndromic 11; MCOPS11" RELATED [OMIM:614402] synonym: "microphthalmia, syndromic type 11" EXACT [MONDORULE:2, OMIM:614402] +synonym: "syndromic microphthalmia caused by mutation in VAX1" EXACT [MONDO:design_pattern] +synonym: "VAX1 syndromic microphthalmia" EXACT [MONDO:design_pattern] xref: OMIM:614402 {source="MONDO:equivalentTo"} xref: UMLS:C3553077 {source="OMIM:614402", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016073 {source="DC-OMIM:614402", source="MONDOLEX:0013734", source="OMIM:614402"} ! syndromic microphthalmia @@ -267719,7 +271534,9 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0013736 name: myopathy, centronuclear, 3 def: "Any autosomal dominant centronuclear myopathy in which the cause of the disease is a mutation in the MYF6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant centronuclear myopathy caused by mutation in MYF6" EXACT [MONDO:design_pattern] synonym: "CNM3" RELATED [MONDO:Lexical, OMIM:614408] +synonym: "MYF6 autosomal dominant centronuclear myopathy" EXACT [MONDO:design_pattern] synonym: "myopathy, centronuclear, 3" EXACT [MONDO:Lexical, OMIM:614408] synonym: "MYOPATHY, centronuclear, 3; CNM3" RELATED [OMIM:614408] synonym: "Myopathy, centronuclear, type 3" EXACT [MONDORULE:1, OMIM:614408] @@ -267738,8 +271555,10 @@ id: MONDO:0013737 name: hereditary spastic paraplegia 46 def: "gene (9p13.2) encoding non-lysosomal glucosylceramidase." [Orphanet:320391] subset: ordo_disease {source="Orphanet:320391"} +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in GBA2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 46" EXACT [DOID:0110798] synonym: "autosomal recessive spastic paraplegia type 46" EXACT [DOID:0110798] +synonym: "GBA2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 46" EXACT [DOID:0110798, MONDORULE:2] synonym: "spastic paraplegia 46, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614409] synonym: "spastic paraplegia 46, autosomal recessive; SPG46" RELATED [OMIM:614409] @@ -267751,7 +271570,7 @@ xref: Orphanet:320391 {source="DOID:0110798", source="OMIM:614409", source="MOND xref: UMLS:C2828721 {source="NCBI:mim2gene_medline", source="OMIM:614409", source="MONDO:equivalentTo"} xref: UMLS:C4510081 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:320391"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:614409", source="Orphanet:320391/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110798", source="MONDO:Redundant", source="OMIM:614409", source="Orphanet:320391/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18986 ! GBA2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18986 {source="mim2gene_medgen"} ! GBA2 @@ -267779,7 +271598,9 @@ def: "Any chilblain lupus in which the cause of the disease is a mutation in the synonym: "CHBL2" RELATED [MONDO:Lexical, OMIM:614415] synonym: "chilblain lupus 2" EXACT [MONDO:Lexical, OMIM:614415] synonym: "chilblain lupus 2; CHBL2" RELATED [OMIM:614415] +synonym: "chilblain lupus caused by mutation in SAMHD1" EXACT [MONDO:design_pattern] synonym: "Chilblain lupus type 2" EXACT [MONDORULE:1, OMIM:614415] +synonym: "SAMHD1 chilblain lupus" EXACT [MONDO:design_pattern] xref: OMIM:614415 {source="MONDO:equivalentTo"} xref: Orphanet:90280 {source="OMIM:614415", source="MONDO:subClassOf"} xref: UMLS:C3280721 {source="NCBI:mim2gene_medline", source="OMIM:614415", source="MONDO:equivalentTo"} @@ -267879,7 +271700,7 @@ xref: OMIM:614422 {source="DOID:0110252", source="MONDO:equivalentTo"} xref: Orphanet:217052 {source="OMIM:614422"} xref: Orphanet:98989 {source="OMIM:614422", source="MONDO:subClassOf"} xref: UMLS:C3280758 {source="NCBI:mim2gene_medline", source="OMIM:614422", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:614422"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110252", source="MONDO:Redundant", source="OMIM:614422"} ! cataract (disease) is_a: MONDO:0011060 {source="MONDO:Redundant", source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract is_a: MONDO:0020374 {source="ORDO:98989/btnt"} ! cerulean cataract is_a: MONDO:0020377 {source="MONDO:Redundant", source="ORDO:98992/btnt"} ! early-onset partial cataract @@ -267892,7 +271713,9 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th synonym: "JBTS14" EXACT [DOID:0110983, MONDO:Lexical, OMIM:614424] synonym: "Joubert syndrome 14" EXACT [MONDO:Lexical, OMIM:614424] synonym: "Joubert syndrome 14; JBTS14" RELATED [OMIM:614424] +synonym: "Joubert syndrome caused by mutation in TMEM237" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 14" EXACT [DOID:0110983, MONDORULE:2, OMIM:614424] +synonym: "TMEM237 Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110983 {source="MONDO:equivalentTo"} xref: OMIM:614424 {source="DOID:0110983", source="MONDO:equivalentTo"} xref: Orphanet:220493 {source="OMIM:614424", source="MONDO:subClassOf"} @@ -267902,7 +271725,7 @@ xref: Orphanet:475 {source="OMIM:614424", source="MONDO:subClassOf"} xref: UMLS:C3280766 {source="OMIM:614424", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0009480 {source="ORDO:2318/btnt"} ! Joubert syndrome with oculorenal defect is_a: MONDO:0016364 {source="ORDO:220493/btnt"} ! Joubert syndrome with ocular defect -is_a: MONDO:0018772 {source="MONDO:Entailed", source="OMIM:614424", source="ORDO:475/btnt"} ! Joubert syndrome +is_a: MONDO:0018772 {source="DOID:0110983", source="MONDO:Entailed", source="OMIM:614424", source="ORDO:475/btnt"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14432 ! TMEM237 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14432 {source="mim2gene_medgen"} ! TMEM237 @@ -267931,8 +271754,10 @@ name: atrioventricular septal defect 4 def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "atrioventricular septal defect 4" EXACT [MONDO:Lexical, OMIM:614430] synonym: "ATRIOVENTRICULAR septal defect 4; AVSD4" RELATED [OMIM:614430] +synonym: "atrioventricular septal defect caused by mutation in GATA4" EXACT [MONDO:design_pattern] synonym: "Atrioventricular septal defect type 4" EXACT [MONDORULE:1, OMIM:614430] synonym: "AVSD4" RELATED [MONDO:Lexical, OMIM:614430] +synonym: "GATA4 atrioventricular septal defect" EXACT [MONDO:design_pattern] xref: OMIM:614430 {source="MONDO:equivalentTo"} xref: Orphanet:98722 {source="MONDO:subClassOf", source="OMIM:614430"} xref: UMLS:C3280781 {source="NCBI:mim2gene_medline", source="OMIM:614430", source="MONDO:equivalentTo"} @@ -267983,10 +271808,12 @@ name: atrial heart septal defect 8 def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the CITED2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ASD8" EXACT [DOID:0110113] synonym: "ASD8" RELATED [MONDO:Lexical, OMIM:614433] +synonym: "atrial heart septal defect caused by mutation in CITED2" EXACT [MONDO:design_pattern] synonym: "atrial heart septal defect type 8" EXACT [DOID:0110113, MONDORULE:1] synonym: "atrial septal defect 8" EXACT [DOID:0110113, MONDO:Lexical, OMIM:614433] synonym: "atrial septal defect 8; ASD8" RELATED [OMIM:614433] synonym: "atrial septal defect type 8" EXACT [MONDORULE:1, OMIM:614433] +synonym: "CITED2 atrial heart septal defect" EXACT [MONDO:design_pattern] xref: DOID:0110113 {source="MONDO:equivalentTo"} xref: ICD10:Q21.1 {source="DOID:0110113"} xref: OMIM:614433 {source="DOID:0110113", source="MONDO:equivalentTo"} @@ -268003,9 +271830,11 @@ id: MONDO:0013751 name: cutis laxa, autosomal dominant 2 def: "Any autosomal dominant cutis laxa in which the cause of the disease is a mutation in the FBLN5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ADCL2" RELATED [MONDO:Lexical, OMIM:614434] +synonym: "autosomal dominant cutis laxa caused by mutation in FBLN5" EXACT [MONDO:design_pattern] synonym: "cutis laxa, autosomal dominant 2" EXACT [MONDO:Lexical, OMIM:614434] synonym: "cutis laxa, autosomal dominant 2; ADCL2" RELATED [OMIM:614434] synonym: "cutis laxa, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:614434] +synonym: "FBLN5 autosomal dominant cutis laxa" EXACT [MONDO:design_pattern] xref: OMIM:614434 {source="MONDO:equivalentTo"} xref: Orphanet:90348 {source="OMIM:614434", source="MONDO:subClassOf"} xref: UMLS:C3280794 {source="OMIM:614434", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -268023,7 +271852,9 @@ def: "Any hypoplastic left heart syndrome in which the cause of the disease is a synonym: "HLHS2" RELATED [MONDO:Lexical, OMIM:614435] synonym: "hypoplastic left heart syndrome 2" EXACT [MONDO:Lexical, OMIM:614435] synonym: "hypoplastic left heart syndrome 2; HLHS2" RELATED [OMIM:614435] +synonym: "hypoplastic left heart syndrome caused by mutation in NKX2-5" EXACT [MONDO:design_pattern] synonym: "hypoplastic left heart syndrome type 2" EXACT [MONDORULE:1, OMIM:614435] +synonym: "NKX2-5 hypoplastic left heart syndrome" EXACT [MONDO:design_pattern] xref: ICD10:Q23.4 {source="Orphanet:2248", source="MONDO:subClassOf"} xref: MedDRA:10021076 {source="Orphanet:2248"} xref: MESH:D018636 {source="Orphanet:2248", source="MONDO:subClassOf"} @@ -268041,6 +271872,7 @@ id: MONDO:0013753 name: Charcot-Marie-tooth disease axonal type 2P def: "Any Charcot-Marie-tooth disease in which the cause of the disease is a mutation in the LRSAM1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:300319"} +synonym: "Charcot-Marie-tooth disease caused by mutation in LRSAM1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2P" EXACT [DOID:0110169] synonym: "Charcot-Marie-Tooth disease, axonal, type 2G, formerly" RELATED [OMIM:614436] synonym: "Charcot-Marie-Tooth disease, axonal, type 2P" RELATED [MONDO:Lexical, OMIM:614436] @@ -268049,13 +271881,14 @@ synonym: "Charcot-Marie-Tooth neuropathy type 2P" EXACT [DOID:0110169] synonym: "Charcot-Marie-Tooth neuropathy, type 2P" RELATED [OMIM:614436] synonym: "Charcot-Marie-Toothe disease, axonal, type 2P" RELATED [GARD:0012435] synonym: "CMT2P" EXACT [DOID:0110169, MONDO:Lexical, OMIM:614436, Orphanet:300319] +synonym: "LRSAM1 Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] xref: DOID:0110169 {source="MONDO:equivalentTo"} xref: GARD:0012435 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="ORDO:300319/attributed", source="DOID:0110169", source="ORDO:300319/ntbt", source="Orphanet:300319"} xref: OMIM:614436 {source="DOID:0110169", source="Orphanet:300319", source="MONDO:equivalentTo", source="ORDO:300319/e"} xref: Orphanet:300319 {source="DOID:0110169", source="OMIM:614436", source="MONDO:equivalentTo"} xref: UMLS:C3280797 {source="NCBI:mim2gene_medline", source="OMIM:614436", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:614436", source="Orphanet:300319/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110169/inferred", source="MONDO:Redundant", source="OMIM:614436", source="Orphanet:300319/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110169", source="Orphanet:300319"} ! Charcot-Marie-tooth disease type 2 is_a: MONDO:0019601 {source="Orphanet:300319"} ! autosomal recessive axonal hereditary motor and sensory neuropathy intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease @@ -268076,8 +271909,8 @@ xref: ICD10:Q82.8 {source="DOID:0070133"} xref: OMIM:614437 {source="DOID:0070133", source="MONDO:equivalentTo"} xref: Orphanet:90349 {source="OMIM:614437", source="MONDO:subClassOf"} xref: UMLS:C3280798 {source="NCBI:mim2gene_medline", source="OMIM:614437", source="MONDO:equivalentTo"} -is_a: MONDO:0016175 {source="MONDO:Redundant", source="OMIM:614437"} ! cutis laxa -is_a: MONDO:0019572 {source="MONDOLEX:0013754", source="ORDO:90349/btnt"} ! autosomal recessive cutis laxa type 1 +is_a: MONDO:0016175 {source="DOID:0070133/inferred", source="MONDO:Redundant", source="OMIM:614437"} ! cutis laxa +is_a: MONDO:0019572 {source="DOID:0070133", source="MONDOLEX:0013754", source="ORDO:90349/btnt"} ! autosomal recessive cutis laxa type 1 intersection_of: MONDO:0016175 ! cutis laxa intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3219 ! EFEMP2 intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance @@ -268096,6 +271929,8 @@ synonym: "cutis laxa, autosomal recessive, type 3B" RELATED [OMIM:614438] synonym: "cutis laxa, autosomal recessive, type IIIB" RELATED [MONDO:Lexical, OMIM:614438] synonym: "cutis laxa, autosomal recessive, type IIIB; ARCL3B" RELATED [OMIM:614438] synonym: "De Barsy syndrome B" EXACT [DOID:0070138, OMIM:614438] +synonym: "de Barsy syndrome caused by mutation in PYCR1" EXACT [MONDO:design_pattern] +synonym: "PYCR1 de Barsy syndrome" EXACT [MONDO:design_pattern] synonym: "PYCR1 deficiency" EXACT [Orphanet:293633] synonym: "pyrroline-5-carboxylate reductase 1 deficiency" EXACT [Orphanet:293633] xref: DOID:0070138 {source="MONDO:equivalentTo"} @@ -268105,8 +271940,8 @@ xref: OMIM:614438 {source="DOID:0070138", source="Orphanet:293633", source="ORDO xref: Orphanet:293633 {source="OMIM:614438", source="MONDO:equivalentTo"} xref: Orphanet:2962 {source="OMIM:614438", source="MONDO:subClassOf"} xref: UMLS:C3280799 {source="NCBI:mim2gene_medline", source="OMIM:614438", source="MONDO:equivalentTo"} -is_a: MONDO:0016175 {source="MONDO:Redundant", source="OMIM:614438", source="Orphanet:293633/inferred"} ! cutis laxa -is_a: MONDO:0017569 {source="MONDOLEX:0013755", source="Orphanet:293633"} ! de Barsy syndrome +is_a: MONDO:0016175 {source="DOID:0070138/inferred", source="MONDO:Redundant", source="OMIM:614438", source="Orphanet:293633/inferred"} ! cutis laxa +is_a: MONDO:0017569 {source="DOID:0070138", source="MONDOLEX:0013755", source="Orphanet:293633"} ! de Barsy syndrome intersection_of: MONDO:0017569 ! de Barsy syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9721 ! PYCR1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9721 {source="mim2gene_medgen"} ! PYCR1 @@ -268122,6 +271957,8 @@ synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, type 2" E synonym: "Pachydermoperiostosis, autosomal recessive" RELATED [OMIM:614441] synonym: "PDP, autosomal recessive" RELATED [OMIM:614441] synonym: "PHOAR2" RELATED [MONDO:Lexical, OMIM:614441] +synonym: "primary hypertrophic osteoarthropathy caused by mutation in SLCO2A1" EXACT [MONDO:design_pattern] +synonym: "SLCO2A1 primary hypertrophic osteoarthropathy" EXACT [MONDO:design_pattern] xref: OMIM:614441 {source="MONDO:equivalentTo"} xref: Orphanet:2796 {source="MONDO:subClassOf", source="OMIM:614441"} xref: UMLS:C3280800 {source="NCBI:mim2gene_medline", source="OMIM:614441", source="MONDO:equivalentTo"} @@ -268137,9 +271974,11 @@ id: MONDO:0013757 name: congenital nongoitrous hypothryoidism 6 def: "Any hypothyroidism, congenital, nongoitrous in which the cause of the disease is a mutation in the THRA gene." [MONDO:patterns/disease_series_by_gene] synonym: "CHNG6" EXACT [DOID:0070128, MONDO:Lexical, OMIM:614450] +synonym: "hypothyroidism, congenital, nongoitrous caused by mutation in THRA" EXACT [MONDO:design_pattern] synonym: "hypothyroidism, congenital, nongoitrous, 6" RELATED [MONDO:Lexical, OMIM:614450] synonym: "hypothyroidism, congenital, nongoitrous, 6; CHNG6" RELATED [OMIM:614450] synonym: "hypothyroidism, congenital, nongoitrous, type 6" EXACT [MONDORULE:1, OMIM:614450] +synonym: "THRA hypothyroidism, congenital, nongoitrous" EXACT [MONDO:design_pattern] xref: DOID:0070128 {source="MONDO:equivalentTo"} xref: ICD10:E03.1 {source="DOID:0070128"} xref: OMIM:614450 {source="MONDO:equivalentTo", source="DOID:0070128"} @@ -268261,11 +272100,13 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12678/lipoic- id: MONDO:0013763 name: Joubert syndrome 15 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP41 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CEP41 Joubert syndrome" EXACT [MONDO:design_pattern] synonym: "JBTS15" EXACT [DOID:0110984, MONDO:Lexical, OMIM:614464] synonym: "Joubert syndrome 12/15, digenic" RELATED [OMIM:614464] synonym: "Joubert syndrome 15" EXACT [MONDO:Lexical, OMIM:614464] synonym: "Joubert syndrome 15; JBTS15" RELATED [OMIM:614464] synonym: "Joubert syndrome 9/15, digenic" RELATED [OMIM:614464] +synonym: "Joubert syndrome caused by mutation in CEP41" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 15" EXACT [DOID:0110984, MONDORULE:2, OMIM:614464] xref: DOID:0110984 {source="MONDO:equivalentTo"} xref: OMIM:614464 {source="DOID:0110984", source="MONDO:equivalentTo"} @@ -268288,7 +272129,9 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th synonym: "JBTS16" EXACT [DOID:0110985, MONDO:Lexical, OMIM:614465] synonym: "Joubert syndrome 16" EXACT [MONDO:Lexical, OMIM:614465] synonym: "Joubert syndrome 16; JBTS16" RELATED [OMIM:614465] +synonym: "Joubert syndrome caused by mutation in TMEM138" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 16" EXACT [DOID:0110985, MONDORULE:2, OMIM:614465] +synonym: "TMEM138 Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110985 {source="MONDO:equivalentTo"} xref: OMIM:614465 {source="DOID:0110985", source="MONDO:equivalentTo"} xref: Orphanet:2318 {source="OMIM:614465", source="MONDO:subClassOf"} @@ -268305,9 +272148,11 @@ id: MONDO:0013765 name: coronary heart disease, susceptibility to, 6 def: "Any coronary artery disease in which the cause of the disease is a mutation in the MMP3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CHDS6" RELATED [MONDO:Lexical, OMIM:614466] +synonym: "coronary artery disease caused by mutation in MMP3" EXACT [MONDO:design_pattern] synonym: "coronary heart disease, susceptibility to, 6" EXACT [MONDO:Lexical, OMIM:614466] synonym: "coronary heart disease, susceptibility to, 6; CHDS6" RELATED [OMIM:614466] synonym: "coronary heart disease, susceptibility to, type 6" EXACT [MONDORULE:1, OMIM:614466] +synonym: "MMP3 coronary artery disease" EXACT [MONDO:design_pattern] synonym: "susceptibility to coronary heart disease 6" RELATED [OMIM:614466] xref: OMIM:614466 {source="MONDO:equivalentTo"} xref: UMLS:C3280913 {source="NCBI:mim2gene_medline", source="OMIM:614466"} @@ -268328,10 +272173,12 @@ synonym: "FACU" EXACT [Orphanet:300359] synonym: "familial atypical cold urticaria" EXACT [OMIM:614468, Orphanet:300359] synonym: "familial cold autoinflammatory syndrome 3" EXACT [MONDO:Lexical, OMIM:614468] synonym: "familial cold autoinflammatory syndrome 3; FCAS3" RELATED [OMIM:614468] +synonym: "familial cold autoinflammatory syndrome caused by mutation in PLCG2" EXACT [MONDO:design_pattern] synonym: "familial cold autoinflammatory syndrome type 3" EXACT [DOID:0090064, MONDORULE:1, OMIM:614468] synonym: "familial cold urticaria with common variable immunodeficiency" EXACT [Orphanet:300359] synonym: "FCAS3" RELATED [MONDO:Lexical, OMIM:614468] synonym: "plaid" EXACT [Orphanet:300359] +synonym: "PLCG2 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern] synonym: "PLCG2-associated antibody deficiency and immune dysregulation" RELATED [Orphanet:300359] xref: DOID:0090064 {source="MONDO:equivalentTo"} xref: ICD10:L50.2 {source="DOID:0090064", source="ORDO:300359/ntbt", source="Orphanet:300359", source="ORDO:300359/attributed"} @@ -268354,9 +272201,11 @@ subset: ordo_disease {source="Orphanet:268114"} synonym: "ALPS type 4" EXACT [DOID:0110117, Orphanet:268114] synonym: "ALPS type IV" EXACT [DOID:0110117, Orphanet:268114] synonym: "ALPS4" EXACT [DOID:0110117] +synonym: "autoimmune lymphoproliferative syndrome caused by mutation in NRAS" EXACT [MONDO:design_pattern] synonym: "autoimmune lymphoproliferative syndrome type 4" EXACT [Orphanet:268114] synonym: "autoimmune lymphoproliferative syndrome type IV" EXACT [DOID:0110117, Orphanet:268114] synonym: "autoimmune lymphoproliferative syndrome, type 4" RELATED [OMIM:614470] +synonym: "NRAS autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern] synonym: "RALD" EXACT [DOID:0110117, Orphanet:268114] synonym: "RALD" RELATED [MONDO:Lexical, OMIM:614470] synonym: "RAS-associated autoimmune leukoproliferative disease" EXACT [DOID:0110117] @@ -268377,6 +272226,8 @@ property_value: confidence "41.49999999999987" xsd:double id: MONDO:0013768 name: arterial calcification, generalized, of infancy, 2 def: "Any arterial calcification of infancy in which the cause of the disease is a mutation in the ABCC6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ABCC6 arterial calcification of infancy" EXACT [MONDO:design_pattern] +synonym: "arterial calcification of infancy caused by mutation in ABCC6" EXACT [MONDO:design_pattern] synonym: "arterial calcification, generalized, of infancy, 2" EXACT [MONDO:Lexical, OMIM:614473] synonym: "arterial calcification, generalized, of infancy, 2; GACI2" RELATED [OMIM:614473] synonym: "arterial calcification, generalized, of infancy, type 2" EXACT [MONDORULE:1, OMIM:614473] @@ -268398,8 +272249,10 @@ name: atrioventricular septal defect 5 def: "Any atrioventricular septal defect in which the cause of the disease is a mutation in the GATA6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "atrioventricular septal defect 5" EXACT [MONDO:Lexical, OMIM:614474] synonym: "ATRIOVENTRICULAR septal defect 5; AVSD5" RELATED [OMIM:614474] +synonym: "atrioventricular septal defect caused by mutation in GATA6" EXACT [MONDO:design_pattern] synonym: "Atrioventricular septal defect type 5" EXACT [MONDORULE:1, OMIM:614474] synonym: "AVSD5" RELATED [MONDO:Lexical, OMIM:614474] +synonym: "GATA6 atrioventricular septal defect" EXACT [MONDO:design_pattern] xref: OMIM:614474 {source="MONDO:equivalentTo"} xref: Orphanet:98722 {source="MONDO:subClassOf", source="OMIM:614474"} xref: UMLS:C3280939 {source="NCBI:mim2gene_medline", source="OMIM:614474", source="MONDO:equivalentTo"} @@ -268416,10 +272269,12 @@ name: atrial heart septal defect 9 def: "Any atrial heart septal defect in which the cause of the disease is a mutation in the GATA6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ASD9" EXACT [DOID:0110114] synonym: "ASD9" RELATED [MONDO:Lexical, OMIM:614475] +synonym: "atrial heart septal defect caused by mutation in GATA6" EXACT [MONDO:design_pattern] synonym: "atrial heart septal defect type 9" EXACT [DOID:0110114, MONDORULE:1] synonym: "atrial septal defect 9" EXACT [DOID:0110114, MONDO:Lexical, OMIM:614475] synonym: "atrial septal defect 9; ASD9" RELATED [OMIM:614475] synonym: "atrial septal defect type 9" EXACT [MONDORULE:1, OMIM:614475] +synonym: "GATA6 atrial heart septal defect" EXACT [MONDO:design_pattern] xref: DOID:0110114 {source="MONDO:equivalentTo"} xref: ICD10:Q21.1 {source="DOID:0110114"} xref: OMIM:614475 {source="DOID:0110114", source="MONDO:equivalentTo"} @@ -268468,9 +272323,11 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013773 name: porencephaly 2 def: "Any porencephaly in which the cause of the disease is a mutation in the COL4A2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "COL4A2 porencephaly" EXACT [MONDO:design_pattern] synonym: "POREN2" RELATED [MONDO:Lexical, OMIM:614483] synonym: "porencephaly 2" EXACT [MONDO:Lexical, OMIM:614483] synonym: "porencephaly 2; POREN2" RELATED [OMIM:614483] +synonym: "porencephaly caused by mutation in COL4A2" EXACT [MONDO:design_pattern] synonym: "porencephaly type 2" EXACT [MONDORULE:1, OMIM:614483] xref: OMIM:614483 {source="MONDO:equivalentTo"} xref: Orphanet:2940 {source="MONDO:subClassOf", source="OMIM:614483"} @@ -268488,6 +272345,8 @@ id: MONDO:0013774 name: trigonocephaly 2 def: "Any isolated trigonocephaly in which the cause of the disease is a mutation in the FREM1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "craniosynostosis, metopic" RELATED [OMIM:614485] +synonym: "FREM1 isolated trigonocephaly" EXACT [MONDO:design_pattern] +synonym: "isolated trigonocephaly caused by mutation in FREM1" EXACT [MONDO:design_pattern] synonym: "TRIGNO2" RELATED [MONDO:Lexical, OMIM:614485] synonym: "trigonocephaly 2" EXACT [MONDO:Lexical, OMIM:614485] synonym: "trigonocephaly 2; TRIGNO2" RELATED [OMIM:614485] @@ -268518,7 +272377,7 @@ xref: OMIM:614486 {source="ORDO:436169/e", source="Orphanet:436169", source="MON xref: Orphanet:436169 {source="MONDO:equivalentTo"} xref: UMLS:C1861173 {source="NCBI:mim2gene_medline"} xref: UMLS:C3280976 {source="OMIM:614486", source="Orphanet:436169", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} -is_a: MONDO:0002305 {source="DC-OMIM:614486", source="OMIM:614486"} ! thrombophilia +is_a: MONDO:0002305 {source="DC-OMIM:614486", source="MESH:C566057", source="OMIM:614486"} ! thrombophilia is_a: MONDO:0019039 {source="Orphanet:436169"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11784 {source="mim2gene_medgen"} ! THBD property_value: confidence "3.533333333333334" xsd:double @@ -268528,8 +272387,10 @@ id: MONDO:0013776 name: spastic ataxia 5 def: "Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome is a rare hereditary spastic ataxia disorder characterized by childhood onset of slowly progressive lower limb spastic paraparesis and cerebellar ataxia (with dysarthria, swallowing difficulties, motor degeneration), associated with sensorimotor neuropathy (including muscle weakness and distal amyotrophy in lower extremities) and progressive myoclonic epilepsy. Ocular signs (ptosis, oculomotor apraxia), dysmetria, dysdiadochokinesia, dystonic movements and myoclonus may also be associated." [Orphanet:313772] subset: ordo_disease {source="Orphanet:313772"} +synonym: "AFG3L2 autosomal recessive spastic ataxia" EXACT [MONDO:design_pattern] synonym: "AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome" EXACT [Orphanet:313772] synonym: "AFG3L2-related spastic ataxia-neuropathy syndrome" EXACT [Orphanet:313772] +synonym: "autosomal recessive spastic ataxia caused by mutation in AFG3L2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic ataxia type 5" EXACT [Orphanet:313772] synonym: "early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome" RELATED [Orphanet:313772] synonym: "spastic ataxia 5, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614487] @@ -268541,7 +272402,7 @@ xref: ICD10:G11.4 {source="ORDO:313772/ntbt", source="ORDO:313772/attributed", s xref: OMIM:614487 {source="DOID:0050944", source="ORDO:313772/e", source="MONDO:equivalentTo", source="Orphanet:313772"} xref: Orphanet:313772 {source="OMIM:614487", source="MONDO:equivalentTo"} xref: UMLS:C3280977 {source="OMIM:614487", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017845 {source="MONDO:Redundant", source="OMIM:614487", source="Orphanet:313772/inferred"} ! spastic ataxia +is_a: MONDO:0017845 {source="DOID:0050944", source="MONDO:Redundant", source="OMIM:614487", source="Orphanet:313772/inferred"} ! spastic ataxia is_a: MONDO:0017847 {source="MONDOLEX:0013776", source="Orphanet:313772"} ! autosomal recessive spastic ataxia is_a: MONDO:0018158 {source="Orphanet:313772"} ! mitochondrial DNA depletion syndrome intersection_of: MONDO:0017847 ! autosomal recessive spastic ataxia @@ -268555,9 +272416,11 @@ name: pseudohypoaldosteronism type 2B def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK4 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:88939"} synonym: "PHA2B" EXACT [MONDO:Lexical, OMIM:614491, Orphanet:88939] +synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK4" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2B" RELATED [OMIM:614491] synonym: "pseudohypoaldosteronism, type IIB" RELATED [MONDO:Lexical, OMIM:614491] synonym: "pseudohypoaldosteronism, type IIB; PHA2B" RELATED [OMIM:614491] +synonym: "WNK4 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern] xref: ICD10:I15.1 {source="Orphanet:88939", source="ORDO:88939/attributed", source="ORDO:88939/ntbt"} xref: MESH:C564161 {source="MONDO:equivalentTo"} xref: OMIM:614491 {source="Orphanet:88939", source="ORDO:88939/e", source="MONDO:equivalentTo"} @@ -268576,9 +272439,11 @@ name: pseudohypoaldosteronism type 2C def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the WNK1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:88940"} synonym: "PHA2C" EXACT [MONDO:Lexical, OMIM:614492, Orphanet:88940] +synonym: "pseudohypoaldosteronism type 2 caused by mutation in WNK1" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2C" RELATED [OMIM:614492] synonym: "pseudohypoaldosteronism, type IIC" RELATED [MONDO:Lexical, OMIM:614492] synonym: "pseudohypoaldosteronism, type IIC; PHA2C" RELATED [OMIM:614492] +synonym: "WNK1 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern] xref: ICD10:I15.1 {source="ORDO:88940/attributed", source="Orphanet:88940", source="ORDO:88940/ntbt"} xref: MESH:C564162 {source="MONDO:equivalentTo"} xref: OMIM:614492 {source="Orphanet:88940", source="ORDO:88940/e", source="MONDO:equivalentTo"} @@ -268597,8 +272462,10 @@ name: Wiskott-Aldrich syndrome 2 def: "Any Wiskott-Aldrich syndrome in which the cause of the disease is a mutation in the WIPF1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "WAS2" RELATED [MONDO:Lexical, OMIM:614493] synonym: "Wipf1 deficiency" RELATED [OMIM:614493] +synonym: "WIPF1 Wiskott-Aldrich syndrome" EXACT [MONDO:design_pattern] synonym: "Wiskott-Aldrich syndrome 2" EXACT [MONDO:Lexical, OMIM:614493] synonym: "Wiskott-Aldrich syndrome 2; WAS2" RELATED [OMIM:614493] +synonym: "Wiskott-Aldrich syndrome caused by mutation in WIPF1" EXACT [MONDO:design_pattern] synonym: "Wiskott-Aldrich syndrome type 2" EXACT [MONDORULE:1, OMIM:614493] xref: OMIM:614493 {source="MONDO:equivalentTo"} xref: Orphanet:906 {source="OMIM:614493", source="MONDO:subClassOf"} @@ -268630,7 +272497,9 @@ name: pseudohypoaldosteronism type 2D def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the KLHL3 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:300525"} synonym: "familial hyperkalemic hypertension" RELATED [OMIM:614495] +synonym: "KLHL3 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern] synonym: "PHA2D" EXACT [MONDO:Lexical, OMIM:614495, Orphanet:300525] +synonym: "pseudohypoaldosteronism type 2 caused by mutation in KLHL3" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2D" RELATED [OMIM:614495] synonym: "pseudohypoaldosteronism, type IID" RELATED [MONDO:Lexical, OMIM:614495] synonym: "pseudohypoaldosteronism, type IID; PHA2D" RELATED [OMIM:614495] @@ -268650,7 +272519,9 @@ id: MONDO:0013782 name: pseudohypoaldosteronism type 2E def: "Any pseudohypoaldosteronism type 2 in which the cause of the disease is a mutation in the CUL3 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_etiological_subtype {source="Orphanet:300530"} +synonym: "CUL3 pseudohypoaldosteronism type 2" EXACT [MONDO:design_pattern] synonym: "PHA2E" EXACT [MONDO:Lexical, OMIM:614496, Orphanet:300530] +synonym: "pseudohypoaldosteronism type 2 caused by mutation in CUL3" EXACT [MONDO:design_pattern] synonym: "pseudohypoaldosteronism, type 2E" RELATED [OMIM:614496] synonym: "pseudohypoaldosteronism, type IIE" RELATED [MONDO:Lexical, OMIM:614496] synonym: "pseudohypoaldosteronism, type IIE; PHA2E" RELATED [OMIM:614496] @@ -268669,9 +272540,11 @@ property_value: confidence "7.124999999999998" xsd:double id: MONDO:0013783 name: microphthalmia, isolated, with coloboma 7 def: "Any microphthalmia, isolated, with coloboma in which the cause of the disease is a mutation in the ABCB6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ABCB6 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern] synonym: "MCOPCB7" RELATED [MONDO:Lexical, OMIM:614497] synonym: "microphthalmia, isolated, with coloboma 7" EXACT [MONDO:Lexical, OMIM:614497] synonym: "microphthalmia, isolated, with coloboma 7; MCOPCB7" RELATED [OMIM:614497] +synonym: "microphthalmia, isolated, with coloboma caused by mutation in ABCB6" EXACT [MONDO:design_pattern] synonym: "microphthalmia, isolated, with coloboma type 7" EXACT [MONDORULE:1, OMIM:614497] xref: OMIM:614497 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="MONDO:subClassOf", source="OMIM:614497"} @@ -268696,7 +272569,7 @@ xref: ICD10:G40.4 {source="ORDO:435845/ntbt", source="ORDO:435845/attributed", s xref: OMIM:614498 {source="Orphanet:435845", source="ORDO:435845/e", source="MONDO:equivalentTo"} xref: Orphanet:435845 {source="MONDO:equivalentTo"} xref: UMLS:C3281029 {source="OMIM:614498", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015653 {source="Orphanet:435845"} ! monogenic disease with epilepsy +is_a: MONDO:0015653 {source="EFO:0009144", source="Orphanet:435845"} ! monogenic disease with epilepsy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21701 {source="mim2gene_medgen"} ! BRAT1 property_value: confidence "8.333333333333334" xsd:double @@ -268704,6 +272577,8 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0013785 name: intellectual disability, autosomal recessive 34 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the CRADD gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in CRADD" EXACT [MONDO:design_pattern] +synonym: "CRADD autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 34" RELATED [MONDO:Lexical, OMIM:614499] synonym: "mental retardation, autosomal recessive 34, with variant lissencephaly" RELATED [OMIM:614499] synonym: "mental retardation, autosomal recessive 34, with variant lissencephaly; MRT34" RELATED [OMIM:614499] @@ -268722,8 +272597,10 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0013786 name: cone-rod dystrophy 16 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the C8orf37 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "C8orf37 cone-rod dystrophy" EXACT [MONDO:design_pattern] synonym: "cone-rod dystrophy 16" EXACT [MONDO:Lexical, OMIM:614500] synonym: "cone-ROD dystrophy 16; CORD16" RELATED [OMIM:614500] +synonym: "cone-rod dystrophy caused by mutation in C8orf37" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 16" EXACT [MONDORULE:2, OMIM:614500] synonym: "cone-rod dystrophy type 16" EXACT [DOID:0111022, MONDORULE:2] synonym: "CORD16" EXACT [DOID:0111022, MONDO:Lexical, OMIM:614500] @@ -268745,7 +272622,7 @@ id: MONDO:0013787 name: psychomotor retardation, epilepsy, and craniofacial dysmorphism synonym: "PMRED" RELATED [MONDO:Lexical, OMIM:614501] synonym: "psychomotor retardation, epilepsy, and craniofacial dysmorphism" EXACT [MONDO:Lexical, OMIM:614501] -synonym: "psychomotor retardation, epilepsy, and craniofacial DYSMORPHISM; PMRED" RELATED [OMIM:614501] +synonym: "psychomotor retardation, epilepsy, and craniofacial dysmorphism; PMRED" RELATED [OMIM:614501] xref: OMIM:614501 {source="MONDO:equivalentTo"} xref: UMLS:C3281055 {source="OMIM:614501", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease @@ -268755,7 +272632,9 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30 id: MONDO:0013788 name: Usher syndrome type 3B def: "Any Usher syndrome in which the cause of the disease is a mutation in the HARS gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HARS Usher syndrome" EXACT [MONDO:design_pattern] synonym: "USH3B" EXACT [DOID:0110842, MONDO:Lexical, OMIM:614504] +synonym: "Usher syndrome caused by mutation in HARS" EXACT [MONDO:design_pattern] synonym: "Usher syndrome type IIIB" EXACT [DOID:0110842] synonym: "Usher syndrome, type 3B" RELATED [OMIM:614504] synonym: "USHER syndrome, type IIIB" RELATED [MONDO:Lexical, OMIM:614504] @@ -268767,7 +272646,7 @@ xref: Orphanet:231183 {source="OMIM:614504", source="MONDO:subClassOf"} xref: Orphanet:886 {source="OMIM:614504", source="MONDO:subClassOf"} xref: UMLS:C3281066 {source="NCBI:mim2gene_medline", source="OMIM:614504", source="MONDO:equivalentTo"} is_a: MONDO:0016485 {source="DOID:0110842", source="MONDOLEX:0013788"} ! Usher syndrome type 3 -is_a: MONDO:0019501 {source="MONDO:Redundant", source="OMIM:614504"} ! Usher syndrome +is_a: MONDO:0019501 {source="DOID:0110842/inferred", source="MONDO:Redundant", source="OMIM:614504"} ! Usher syndrome intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4816 ! HARS relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4816 {source="mim2gene_medgen"} ! HARS @@ -268805,10 +272684,12 @@ property_value: confidence "12.437500000000002" xsd:double id: MONDO:0013790 name: mirror movements 2 def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the RAD51 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial congenital mirror movements caused by mutation in RAD51" EXACT [MONDO:design_pattern] synonym: "mirror movements 2" EXACT [MONDO:Lexical, OMIM:614508] synonym: "mirror movements 2; MRMV2" RELATED [OMIM:614508] synonym: "mirror movements type 2" EXACT [MONDORULE:1, OMIM:614508] synonym: "MRMV2" RELATED [MONDO:Lexical, OMIM:614508] +synonym: "RAD51 familial congenital mirror movements" EXACT [MONDO:design_pattern] xref: OMIM:614508 {source="MONDO:equivalentTo"} xref: Orphanet:238722 {source="OMIM:614508", source="MONDO:subClassOf"} xref: UMLS:C3281089 {source="NCBI:mim2gene_medline", source="OMIM:614508", source="MONDO:equivalentTo"} @@ -268847,7 +272728,7 @@ xref: MESH:D002543 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:614519 {source="EFO:0005669", source="MONDO:equivalentTo"} xref: UMLS:C0019191 {source="NCBI:mim2gene_medline"} xref: UMLS:C3281105 {source="OMIM:614519"} -is_a: MONDO:0005049 {source="EFO:0005669"} ! intracranial hemorrhage +is_a: MONDO:0005049 {source="EFO:0005669", source="MESH:D002543"} ! intracranial hemorrhage relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2202 {source="mim2gene_medgen"} ! COL4A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2203 {source="mim2gene_medgen"} ! COL4A2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2707 {source="mim2gene_medgen"} ! ACE @@ -268864,6 +272745,8 @@ is_a: MONDO:0003847 ! inherited genetic disease id: MONDO:0013794 name: thrombocythemia 3 def: "Any essential thrombocythemia in which the cause of the disease is a mutation in the JAK2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "essential thrombocythemia caused by mutation in JAK2" EXACT [MONDO:design_pattern] +synonym: "JAK2 essential thrombocythemia" EXACT [MONDO:design_pattern] synonym: "THCYT3" RELATED [MONDO:Lexical, OMIM:614521] synonym: "thrombocythemia 3" EXACT [MONDO:Lexical, OMIM:614521] synonym: "thrombocythemia 3; THCYT3" RELATED [OMIM:614521] @@ -268884,9 +272767,11 @@ property_value: confidence "1.1130104463437789" xsd:double id: MONDO:0013795 name: fibrochondrogenesis 2 def: "Any fibrochondrogenesis in which the cause of the disease is a mutation in the COL11A2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "COL11A2 fibrochondrogenesis" EXACT [MONDO:design_pattern] synonym: "FBCG2" RELATED [MONDO:Lexical, OMIM:614524] synonym: "fibrochondrogenesis 2" EXACT [MONDO:Lexical, OMIM:614524] synonym: "fibrochondrogenesis 2; FBCG2" RELATED [OMIM:614524] +synonym: "fibrochondrogenesis caused by mutation in COL11A2" EXACT [MONDO:design_pattern] synonym: "fibrochondrogenesis type 2" EXACT [MONDORULE:1, OMIM:614524] xref: OMIM:614524 {source="MONDO:equivalentTo"} xref: Orphanet:2021 {source="OMIM:614524", source="MONDO:subClassOf"} @@ -268992,11 +272877,13 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0013801 name: epileptic encephalopathy, early infantile, 13 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SCN8A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in SCN8A" EXACT [MONDO:design_pattern] synonym: "early infantile epileptic encephalopathy-13" RELATED [GARD:0013085] synonym: "EIEE13" RELATED [MONDO:Lexical, OMIM:614558] synonym: "epileptic encephalopathy, early infantile, 13" EXACT [MONDO:Lexical, OMIM:614558] synonym: "epileptic encephalopathy, early infantile, 13; EIEE13" RELATED [OMIM:614558] synonym: "epileptic encephalopathy, early infantile, type 13" EXACT [MONDORULE:2, OMIM:614558] +synonym: "SCN8A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] synonym: "SCN8A encephalopathy" RELATED [GARD:0013085] synonym: "SCN8A epilepsy" RELATED [GARD:0013085] xref: GARD:0013085 {source="OMIM-shared", source="MONDO:equivalentTo"} @@ -269029,7 +272916,7 @@ is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disease is_a: MONDO:0015952 {source="MONDO:Redundant", source="Orphanet:313850"} ! genetic neurodegenerative disease is_a: MONDO:0016790 {source="Orphanet:313850"} ! tricarboxylic acid cycle disorder is_a: MONDO:0019058 {source="Orphanet:313850"} ! neurometabolic disease -is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:313850"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:313850"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/118 {source="mim2gene_medgen"} ! ACO2 property_value: confidence "3.6875" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13264/infantile-cerebellar-retinal-degeneration xsd:anyURI {source="GARD:0013264"} @@ -269052,6 +272939,7 @@ id: MONDO:0013804 name: intellectual disability, autosomal dominant 12 comment: Editor note: consider merging with CSS1 synonym: "autosomal dominant mental retardation 12" EXACT [DOID:0070042] +synonym: "Coffin-Siris syndrome 1" RELATED [DOID:0070042] synonym: "CSS1" EXACT [DOID:0070042] synonym: "fifth digit syndrome" EXACT [DOID:0070042] synonym: "mental retardation, autosomal dominant 12" RELATED [MONDO:Lexical, OMIM:614562] @@ -269076,6 +272964,8 @@ name: intellectual disability, autosomal dominant 13 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DYNC1H1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 13" EXACT [DOID:0070043] synonym: "autosomal dominant non-syndromic intellectual disability 13" RELATED [DOID:0070043] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DYNC1H1" EXACT [MONDO:design_pattern] +synonym: "DYNC1H1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 13" RELATED [MONDO:Lexical, OMIM:614563] synonym: "mental retardation, autosomal dominant 13, with neuronal migration defects" EXACT [DOID:0070043] synonym: "mental retardation, autosomal dominant 13; MRD13" RELATED [OMIM:614563] @@ -269116,9 +273006,11 @@ id: MONDO:0013807 name: congenital stationary night blindness 1E def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GPR179 gene." [MONDO:patterns/disease_series_by_gene] synonym: "congenital stationary night blindness 1E autosomal recessive" EXACT [DOID:0110869] +synonym: "congenital stationary night blindness caused by mutation in GPR179" EXACT [MONDO:design_pattern] synonym: "congenital stationary night blindness type 1E" EXACT [DOID:0110869, MONDORULE:4] synonym: "Csnb, complete, autosomal recessive" RELATED [OMIM:614565] synonym: "CSNB1E" EXACT [DOID:0110869, MONDO:Lexical, OMIM:614565] +synonym: "GPR179 congenital stationary night blindness" EXACT [MONDO:design_pattern] synonym: "night blindness, congenital stationary, type 1E" RELATED [MONDO:Lexical, OMIM:614565] synonym: "night blindness, congenital stationary, type 1E; CSNB1E" RELATED [OMIM:614565] xref: DOID:0110869 {source="MONDO:equivalentTo"} @@ -269212,8 +273104,10 @@ def: "Combined oxidative phosphorylation defect type 9 is a rare mitochondrial d subset: ordo_disease {source="Orphanet:319509"} synonym: "combined oxidative phosphorylation deficiency 9" RELATED [MONDO:Lexical, OMIM:614582] synonym: "combined oxidative phosphorylation deficiency 9; COXPD9" RELATED [OMIM:614582] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPL3" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 9" EXACT [MONDORULE:1, OMIM:614582] synonym: "COXPD9" EXACT [MONDO:Lexical, OMIM:614582, Orphanet:319509] +synonym: "MRPL3 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: ICD10:I42.2 {source="ORDO:319509/ntbt", source="Orphanet:319509", source="ORDO:319509/attributed"} xref: OMIM:614582 {source="Orphanet:319509", source="ORDO:319509/e", source="MONDO:equivalentTo"} xref: Orphanet:319509 {source="MONDO:equivalentTo", source="OMIM:614582"} @@ -269229,6 +273123,8 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013812 name: Baraitser-winter syndrome 2 def: "Any Baraitser-Winter cerebrofrontofacial syndrome in which the cause of the disease is a mutation in the ACTG1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ACTG1 Baraitser-Winter cerebrofrontofacial syndrome" EXACT [MONDO:design_pattern] +synonym: "Baraitser-Winter cerebrofrontofacial syndrome caused by mutation in ACTG1" EXACT [MONDO:design_pattern] synonym: "Baraitser-winter syndrome 2" EXACT [MONDO:Lexical, OMIM:614583] synonym: "Baraitser-WINTER syndrome 2; BRWS2" RELATED [OMIM:614583] synonym: "Baraitser-Winter syndrome type 2" EXACT [MONDORULE:1, OMIM:614583] @@ -269257,7 +273153,7 @@ xref: ICD10:G24.1 {source="DOID:0090046", source="ORDO:306734/attributed", sourc xref: OMIM:614588 {source="DOID:0090046", source="ORDO:306734/e", source="Orphanet:306734", source="MONDO:equivalentTo"} xref: Orphanet:306734 {source="OMIM:614588", source="DOID:0090046", source="MONDO:equivalentTo"} xref: UMLS:C3281236 {source="OMIM:614588", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:614588"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090046", source="MONDO:Redundant", source="OMIM:614588"} ! dystonic disorder is_a: MONDO:0018303 {source="Orphanet:306734"} ! generalized isolated dystonia property_value: confidence "1.9999999999999996" xsd:double @@ -269307,7 +273203,9 @@ property_value: confidence "0.6931216931216932" xsd:double id: MONDO:0013817 name: preeclampsia/eclampsia 5 def: "Any preeclampsia in which the cause of the disease is a mutation in the CORIN gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CORIN preeclampsia" EXACT [MONDO:design_pattern] synonym: "PEE5" RELATED [MONDO:Lexical, OMIM:614595] +synonym: "preeclampsia caused by mutation in CORIN" EXACT [MONDO:design_pattern] synonym: "preeclampsia/eclampsia 5" EXACT [MONDO:Lexical, OMIM:614595] synonym: "PREECLAMPSIA/eclampsia 5; PEE5" RELATED [OMIM:614595] synonym: "Preeclampsia/eclampsia type 5" EXACT [MONDORULE:1, OMIM:614595] @@ -269324,7 +273222,9 @@ property_value: confidence "2.071428571428571" xsd:double id: MONDO:0013818 name: trichohepatoenteric syndrome 2 def: "Any tricho-hepato-enteric syndrome in which the cause of the disease is a mutation in the SKIV2L gene." [MONDO:patterns/disease_series_by_gene] +synonym: "SKIV2L tricho-hepato-enteric syndrome" EXACT [MONDO:design_pattern] synonym: "THES2" RELATED [MONDO:Lexical, OMIM:614602] +synonym: "tricho-hepato-enteric syndrome caused by mutation in SKIV2L" EXACT [MONDO:design_pattern] synonym: "Trichohepatoenteric syndrome 2" EXACT [MONDO:Lexical, OMIM:614602] synonym: "TRICHOHEPATOENTERIC syndrome 2; THES2" RELATED [OMIM:614602] synonym: "Trichohepatoenteric syndrome type 2" EXACT [MONDORULE:1, OMIM:614602] @@ -269341,9 +273241,11 @@ property_value: confidence "2.4105263157894736" xsd:double id: MONDO:0013819 name: intellectual disability, autosomal dominant 14 def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the ARID1A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ARID1A Coffin-Siris syndrome" EXACT [MONDO:design_pattern] synonym: "autosomal dominant mental retardation 14" EXACT [DOID:0070044] synonym: "Coffin-Siris syndrome 2" RELATED [DOID:0070044, OMIM:614607] synonym: "COFFIN-SIRIS syndrome 2; CSS2" RELATED [OMIM:614607] +synonym: "Coffin-Siris syndrome caused by mutation in ARID1A" EXACT [MONDO:design_pattern] synonym: "CSS2" EXACT [DOID:0070044, OMIM:614607] synonym: "mental retardation, autosomal dominant 14" RELATED [MONDO:Lexical, OMIM:614607] synonym: "mental retardation, autosomal dominant 14; MRD14" RELATED [OMIM:614607] @@ -269368,11 +273270,13 @@ def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation synonym: "autosomal dominant mental retardation 15" EXACT [DOID:0070045] synonym: "COFFIN-SIRIS syndrome 3" EXACT [OMIM:614608] synonym: "COFFIN-SIRIS syndrome 3; CSS3" RELATED [OMIM:614608] +synonym: "Coffin-Siris syndrome caused by mutation in SMARCB1" EXACT [MONDO:design_pattern] synonym: "CSS3" EXACT [DOID:0070045, OMIM:614608] synonym: "mental retardation, autosomal dominant 15" RELATED [MONDO:Lexical, OMIM:614608] synonym: "mental retardation, autosomal dominant 15; MRD15" RELATED [OMIM:614608] synonym: "mental retardation, autosomal dominant type 15" EXACT [MONDORULE:2, OMIM:614608] synonym: "MRD15" EXACT [DOID:0070045, MONDO:Lexical, OMIM:614608] +synonym: "SMARCB1 Coffin-Siris syndrome" EXACT [MONDO:design_pattern] xref: DOID:0070045 {source="MONDO:equivalentTo"} xref: OMIM:614608 {source="DOID:0070045", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="OMIM:614608", source="MONDO:subClassOf"} @@ -269392,11 +273296,13 @@ def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation synonym: "autosomal dominant mental retardation 16" EXACT [DOID:0070046] synonym: "COFFIN-SIRIS syndrome 4" EXACT [OMIM:614609] synonym: "COFFIN-SIRIS syndrome 4; CSS4" RELATED [OMIM:614609] +synonym: "Coffin-Siris syndrome caused by mutation in SMARCA4" EXACT [MONDO:design_pattern] synonym: "CSS4" EXACT [DOID:0070046, OMIM:614609] synonym: "mental retardation, autosomal dominant 16" RELATED [MONDO:Lexical, OMIM:614609] synonym: "mental retardation, autosomal dominant 16; MRD16" RELATED [OMIM:614609] synonym: "mental retardation, autosomal dominant type 16" EXACT [MONDORULE:2, OMIM:614609] synonym: "MRD16" EXACT [DOID:0070046, MONDO:Lexical, OMIM:614609] +synonym: "SMARCA4 Coffin-Siris syndrome" EXACT [MONDO:design_pattern] xref: DOID:0070046 {source="MONDO:equivalentTo"} xref: OMIM:614609 {source="DOID:0070046", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="MONDO:subClassOf", source="OMIM:614609"} @@ -269416,6 +273322,8 @@ def: "Any acrodysostosis in which the cause of the disease is a mutation in the synonym: "ACRDYS2" RELATED [MONDO:Lexical, OMIM:614613] synonym: "acrodysostosis 2 with or without hormone resistance" EXACT [MONDO:Lexical, OMIM:614613] synonym: "acrodysostosis 2 with or without hormone resistance; ACRDYS2" RELATED [OMIM:614613] +synonym: "acrodysostosis caused by mutation in PDE4D" EXACT [MONDO:design_pattern] +synonym: "PDE4D acrodysostosis" EXACT [MONDO:design_pattern] xref: OMIM:614613 {source="MONDO:equivalentTo"} xref: Orphanet:280651 {source="OMIM:614613", source="MONDO:subClassOf"} xref: Orphanet:950 {source="OMIM:614613", source="MONDO:subClassOf"} @@ -269432,7 +273340,9 @@ id: MONDO:0013823 name: autosomal dominant nonsyndromic deafness 4B def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CEACAM16 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 4B" EXACT [DOID:0110574] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CEACAM16" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 4B" EXACT [DOID:0110574, MONDORULE:4] +synonym: "CEACAM16 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal dominant 4B" RELATED [MONDO:Lexical, OMIM:614614] synonym: "deafness, autosomal dominant 4B; DFNA4B" RELATED [OMIM:614614] synonym: "deafness, autosomal dominant type 4B" EXACT [MONDORULE:4, OMIM:614614] @@ -269450,9 +273360,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/31 id: MONDO:0013824 name: Joubert syndrome 17 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CPLANE1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CPLANE1 Joubert syndrome" EXACT [MONDO:design_pattern] synonym: "JBTS17" EXACT [DOID:0110986, MONDO:Lexical, OMIM:614615] synonym: "Joubert syndrome 17" EXACT [MONDO:Lexical, OMIM:614615] synonym: "Joubert syndrome 17; JBTS17" RELATED [OMIM:614615] +synonym: "Joubert syndrome caused by mutation in CPLANE1" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 17" EXACT [DOID:0110986, MONDORULE:2, OMIM:614615] xref: DOID:0110986 {source="MONDO:equivalentTo"} xref: OMIM:614615 {source="DOID:0110986", source="MONDO:equivalentTo"} @@ -269469,11 +273381,13 @@ name: congenital diarrhea 6 def: "Any congenital diarrhea in which the cause of the disease is a mutation in the GUCY2C gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:314373"} synonym: "chronic diarrhea due to guanylate cyclase 2C overactivity" EXACT [DOID:0060780] +synonym: "congenital diarrhea caused by mutation in GUCY2C" EXACT [MONDO:design_pattern] synonym: "congenital diarrhea type 6" EXACT [DOID:0060780, MONDORULE:1] synonym: "DIAR6" RELATED [MONDO:Lexical, OMIM:614616] synonym: "diarrhea 6" RELATED [MONDO:Lexical, OMIM:614616] synonym: "diarrhea 6; DIAR6" RELATED [OMIM:614616] synonym: "diarrhea type 6" EXACT [MONDORULE:1, OMIM:614616] +synonym: "GUCY2C congenital diarrhea" EXACT [MONDO:design_pattern] xref: DOID:0060780 {source="MONDO:equivalentTo"} xref: ICD10:P78.3 {source="DOID:0060780", source="Orphanet:314373", source="ORDO:314373/attributed", source="ORDO:314373/ntbt"} xref: OMIM:614616 {source="DOID:0060780", source="Orphanet:314373", source="ORDO:314373/e", source="MONDO:equivalentTo"} @@ -269491,11 +273405,13 @@ id: MONDO:0013826 name: autosomal recessive nonsyndromic deafness 86 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 86" EXACT [DOID:0110532] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TBC1D24" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 86" EXACT [DOID:0110532, MONDORULE:2] synonym: "deafness, autosomal recessive 86" RELATED [MONDO:Lexical, OMIM:614617] synonym: "deafness, autosomal recessive 86; DFNB86" RELATED [OMIM:614617] synonym: "deafness, autosomal recessive type 86" EXACT [MONDORULE:2, OMIM:614617] synonym: "DFNB86" EXACT [DOID:0110532, MONDO:Lexical, OMIM:614617] +synonym: "TBC1D24 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110532 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110532"} xref: OMIM:614617 {source="DOID:0110532", source="MONDO:equivalentTo"} @@ -269510,16 +273426,18 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29 id: MONDO:0013827 name: hyperekplexia 3 def: "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the SLC6A5 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "hereditary hyperekplexia caused by mutation in SLC6A5" EXACT [MONDO:design_pattern] synonym: "HKPX3" EXACT [DOID:0060698, MONDO:Lexical, OMIM:614618] synonym: "hyperekplexia 3" EXACT [MONDO:Lexical, OMIM:614618] synonym: "hyperekplexia 3; HKPX3" RELATED [OMIM:614618] synonym: "hyperekplexia type 3" EXACT [DOID:0060698, MONDORULE:1, OMIM:614618] +synonym: "SLC6A5 hereditary hyperekplexia" EXACT [MONDO:design_pattern] xref: DOID:0060698 {source="MONDO:equivalentTo"} xref: ICD10:G25.8 {source="DOID:0060698"} xref: OMIM:614618 {source="DOID:0060698", source="MONDO:equivalentTo"} xref: Orphanet:3197 {source="OMIM:614618", source="MONDO:subClassOf", source="DOID:0060698"} xref: UMLS:C3553288 {source="NCBI:mim2gene_medline", source="OMIM:614618", source="MONDO:equivalentTo"} -is_a: MONDO:0021022 {source="MONDOLEX:0013827", source="ORDO:3197/btnt"} ! hereditary hyperekplexia +is_a: MONDO:0021022 {source="DOID:0060698", source="MONDOLEX:0013827", source="OMIM:614618", source="ORDO:3197/btnt"} ! hereditary hyperekplexia intersection_of: MONDO:0021022 ! hereditary hyperekplexia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11051 ! SLC6A5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11051 {source="mim2gene_medgen"} ! SLC6A5 @@ -269529,6 +273447,8 @@ property_value: confidence "1.4444444444444446" xsd:double id: MONDO:0013828 name: hyperekplexia 2 def: "Any hereditary hyperekplexia in which the cause of the disease is a mutation in the GLRB gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GLRB hereditary hyperekplexia" EXACT [MONDO:design_pattern] +synonym: "hereditary hyperekplexia caused by mutation in GLRB" EXACT [MONDO:design_pattern] synonym: "HKPX2" EXACT [DOID:0060697, MONDO:Lexical, OMIM:614619] synonym: "hyperekplexia 2" EXACT [MONDO:Lexical, OMIM:614619] synonym: "hyperekplexia 2; HKPX2" RELATED [OMIM:614619] @@ -269538,7 +273458,7 @@ xref: ICD10:G25.8 {source="DOID:0060697"} xref: OMIM:614619 {source="DOID:0060697", source="MONDO:equivalentTo"} xref: Orphanet:3197 {source="OMIM:614619", source="MONDO:subClassOf", source="DOID:0060697"} xref: UMLS:C3553291 {source="NCBI:mim2gene_medline", source="OMIM:614619", source="MONDO:equivalentTo"} -is_a: MONDO:0021022 {source="MONDOLEX:0013828", source="ORDO:3197/btnt"} ! hereditary hyperekplexia +is_a: MONDO:0021022 {source="DOID:0060697", source="MONDOLEX:0013828", source="OMIM:614619", source="ORDO:3197/btnt"} ! hereditary hyperekplexia intersection_of: MONDO:0021022 ! hereditary hyperekplexia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4329 ! GLRB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4329 {source="mim2gene_medgen"} ! GLRB @@ -269548,8 +273468,10 @@ property_value: confidence "1.4444444444444446" xsd:double id: MONDO:0013829 name: UV-sensitive syndrome 2 def: "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the ERCC8 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ERCC8 UV-sensitive syndrome" EXACT [MONDO:design_pattern] synonym: "UV-sensitive syndrome 2" EXACT [MONDO:Lexical, OMIM:614621] synonym: "UV-sensitive syndrome 2; UVSS2" RELATED [OMIM:614621] +synonym: "UV-sensitive syndrome caused by mutation in ERCC8" EXACT [MONDO:design_pattern] synonym: "UV-sensitive syndrome type 2" EXACT [MONDORULE:1, OMIM:614621] synonym: "UVSS2" RELATED [MONDO:Lexical, OMIM:614621] xref: OMIM:614621 {source="MONDO:equivalentTo"} @@ -269611,8 +273533,10 @@ name: UV-sensitive syndrome 3 def: "Any UV-sensitive syndrome in which the cause of the disease is a mutation in the UVSSA gene." [MONDO:patterns/disease_series_by_gene] synonym: "UV-sensitive syndrome 3" EXACT [MONDO:Lexical, OMIM:614640] synonym: "UV-sensitive syndrome 3; UVSS3" RELATED [OMIM:614640] +synonym: "UV-sensitive syndrome caused by mutation in UVSSA" EXACT [MONDO:design_pattern] synonym: "UV-sensitive syndrome type 3" EXACT [MONDORULE:1, OMIM:614640] synonym: "UVSS3" RELATED [MONDO:Lexical, OMIM:614640] +synonym: "UVSSA UV-sensitive syndrome" EXACT [MONDO:design_pattern] xref: OMIM:614640 {source="MONDO:equivalentTo"} xref: Orphanet:178338 {source="MONDO:subClassOf", source="OMIM:614640"} xref: UMLS:C3553328 {source="NCBI:mim2gene_medline", source="OMIM:614640", source="MONDO:equivalentTo"} @@ -269626,9 +273550,11 @@ property_value: confidence "5.0" xsd:double id: MONDO:0013835 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7 def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the ISPD gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ISPD muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern] synonym: "MDDGA7" RELATED [MONDO:Lexical, OMIM:614643] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7" EXACT [MONDO:Lexical, OMIM:614643] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7; MDDGA7" RELATED [OMIM:614643] +synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in ISPD" EXACT [MONDO:design_pattern] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, ISPD-Related" RELATED [OMIM:614643] xref: OMIM:614643 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="OMIM:614643", source="MONDO:subClassOf", source="MONDO:relatedTo"} @@ -269681,10 +273607,12 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013838 name: coenzyme Q10 deficiency, primary, 3 def: "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the PDSS2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "coenzyme Q10 deficiency caused by mutation in PDSS2" EXACT [MONDO:design_pattern] synonym: "coenzyme Q10 deficiency, primary, 3" EXACT [MONDO:Lexical, OMIM:614652] synonym: "COENZYME Q10 deficiency, primary, 3; COQ10D3" RELATED [OMIM:614652] synonym: "Coenzyme Q10 deficiency, primary, type 3" EXACT [MONDORULE:1, OMIM:614652] synonym: "COQ10D3" RELATED [MONDO:Lexical, OMIM:614652] +synonym: "PDSS2 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern] xref: OMIM:614652 {source="MONDO:equivalentTo"} xref: Orphanet:255249 {source="OMIM:614652", source="MONDO:subClassOf"} xref: UMLS:C3553358 {source="OMIM:614652", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -269700,7 +273628,9 @@ id: MONDO:0013839 name: hereditary sensory and autonomic neuropathy type 6 def: "Any hereditary sensory and autonomic neuropathy in which the cause of the disease is a mutation in the DST gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:314381"} +synonym: "DST hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern] synonym: "familial dysautonomia with contractures" EXACT [Orphanet:314381] +synonym: "hereditary sensory and autonomic neuropathy caused by mutation in DST" EXACT [MONDO:design_pattern] synonym: "hereditary sensory and autonomic neuropathy type VI" EXACT [DOID:0070151, Orphanet:314381] synonym: "HSAN 6" RELATED [OMIM:614653] synonym: "HSAN6" EXACT [DOID:0070151, MONDO:Lexical, OMIM:614653, Orphanet:314381] @@ -269751,20 +273681,23 @@ is_a: MONDO:0003847 ! inherited genetic disease [Term] id: MONDO:0013842 name: cortisone reductase deficiency 2 -def: "Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency." [NCIT:P378] +def: "Decreased activity of the enzyme 11-beta-hydroxysteroid dehydrogenase type 1 due to inactivating mutation(s) in the HSD11B1 gene. The condition is characterized by hyperandrogenism as a result of increased adrenocorticotropic hormone stimulation of the adrenal gland due to failure of cortisol-mediated down-regulation, and is clinically indistinguishable from H6PD deficiency." [NCIT:C131084] +synonym: "11-beta-hydroxysteroid dehydrogenase type 1 deficiency" EXACT [NCIT:C131084] synonym: "cortisone reductase deficiency 2" EXACT [MONDO:Lexical, OMIM:614662] synonym: "cortisone reductase deficiency 2; CORTRD2" RELATED [OMIM:614662] -synonym: "cortisone reductase deficiency type 2" EXACT [DOID:0090140, MONDORULE:1, OMIM:614662] +synonym: "cortisone reductase deficiency caused by mutation in HSD11B1" EXACT [MONDO:design_pattern] +synonym: "cortisone reductase deficiency type 2" EXACT [DOID:0090140, MONDORULE:1, NCIT:C131084, OMIM:614662] synonym: "CORTRD2" EXACT [DOID:0090140, MONDO:Lexical, OMIM:614662] +synonym: "HSD11B1 cortisone reductase deficiency" EXACT [MONDO:design_pattern] xref: DOID:0090140 {source="MONDO:equivalentTo"} xref: NCIT:C131084 {source="DOID:0090140", source="MONDO:equivalentTo"} xref: OMIM:614662 {source="DOID:0090140", source="MONDO:equivalentTo"} xref: Orphanet:168588 {source="MONDO:subClassOf", source="OMIM:614662"} xref: UMLS:C3553382 {source="NCBI:mim2gene_medline", source="OMIM:614662", source="MONDO:equivalentTo"} -is_a: MONDO:0000193 {source="DC-OMIM:614662", source="DOID:0090140", source="OMIM:614662"} ! cortisone reductase deficiency -is_a: MONDO:0015676 {source="ORDO:168588/btnt"} ! hyperandrogenism due to cortisone reductase deficiency +is_a: MONDO:0000193 {source="DC-OMIM:614662", source="DOID:0090140", source="OMIM:614662", source="ORDO:168588/btnt"} ! cortisone reductase deficiency intersection_of: MONDO:0000193 ! cortisone reductase deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5208 ! HSD11B1 +relationship: disease_has_basis_in_disruption_of GO:0003845 ! 11-beta-hydroxysteroid dehydrogenase [NAD(P)] activity relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5208 {source="mim2gene_medgen"} ! HSD11B1 property_value: confidence "39.00000000000001" xsd:double @@ -269805,7 +273738,9 @@ def: "Any auriculocondylar syndrome in which the cause of the disease is a mutat synonym: "ARCND2" RELATED [MONDO:Lexical, OMIM:614669] synonym: "Auriculocondylar syndrome 2" EXACT [MONDO:Lexical, OMIM:614669] synonym: "AURICULOCONDYLAR syndrome 2; ARCND2" RELATED [OMIM:614669] +synonym: "auriculocondylar syndrome caused by mutation in PLCB4" EXACT [MONDO:design_pattern] synonym: "Auriculocondylar syndrome type 2" EXACT [MONDORULE:1, OMIM:614669] +synonym: "PLCB4 auriculocondylar syndrome" EXACT [MONDO:design_pattern] xref: OMIM:614669 {source="MONDO:equivalentTo"} xref: Orphanet:137888 {source="OMIM:614669", source="MONDO:subClassOf"} xref: UMLS:C3553404 {source="NCBI:mim2gene_medline", source="OMIM:614669", source="MONDO:equivalentTo"} @@ -269861,6 +273796,8 @@ synonym: "cardiomyopathy, dilated, 2B; CMD2B" RELATED [OMIM:614672] synonym: "cardiomyopathy, dilated, type 2B" EXACT [MONDORULE:4, OMIM:614672] synonym: "CMD2B" EXACT [DOID:0110441, MONDO:Lexical, OMIM:614672] synonym: "dilated cardiomyopathy type 2B" EXACT [DOID:0110441, MONDORULE:4] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in GATAD1" EXACT [MONDO:design_pattern] +synonym: "GATAD1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110441 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110441", source="MONDO:subClassOf"} xref: OMIM:614672 {source="DOID:0110441", source="MONDO:equivalentTo"} @@ -269877,6 +273814,8 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0013849 name: microcephaly 8, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP135 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive primary microcephaly caused by mutation in CEP135" EXACT [MONDO:design_pattern] +synonym: "CEP135 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern] synonym: "MCPH8" RELATED [MONDO:Lexical, OMIM:614673] synonym: "microcephaly 8, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614673] synonym: "microcephaly 8, primary, autosomal recessive; MCPH8" RELATED [OMIM:614673] @@ -269938,6 +273877,8 @@ is_a: MONDO:0024573 {source="MONDOLEX:0013852", source="OMIM", source="OMIM:6146 id: MONDO:0013853 name: pontocerebellar hypoplasia type 1B def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the EXOSC3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "EXOSC3 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern] +synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in EXOSC3" EXACT [MONDO:design_pattern] synonym: "PCH1B" RELATED [MONDO:Lexical, OMIM:614678] synonym: "pontocerebellar hypoplasia, type 1B" RELATED [MONDO:Lexical, OMIM:614678] synonym: "pontocerebellar hypoplasia, type 1B; PCH1B" RELATED [OMIM:614678] @@ -269946,7 +273887,7 @@ xref: OMIM:614678 {source="DOID:0060266", source="MONDO:equivalentTo"} xref: Orphanet:2254 {source="OMIM:614678", source="DOID:0060266", source="MONDO:subClassOf"} xref: UMLS:C3553449 {source="NCBI:mim2gene_medline", source="OMIM:614678", source="MONDO:equivalentTo"} is_a: MONDO:0016396 {source="MONDOLEX:0013853", source="ORDO:2254/btnt"} ! pontocerebellar hypoplasia type 1 -is_a: MONDO:0020135 {source="MONDO:Redundant", source="OMIM:614678"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DOID:0060266", source="MONDO:Redundant", source="OMIM:614678"} ! non-syndromic pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! non-syndromic pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17944 ! EXOSC3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17944 {source="mim2gene_medgen"} ! EXOSC3 @@ -269956,12 +273897,14 @@ property_value: confidence "48.285714285714285" xsd:double id: MONDO:0013854 name: primary ciliary dyskinesia 17 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC103 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CCDC103 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "CILD17" EXACT [DOID:0110621, MONDO:Lexical, OMIM:614679] synonym: "ciliary dyskinesia, primary, 17" RELATED [MONDO:Lexical, OMIM:614679] synonym: "ciliary dyskinesia, primary, 17, with or without situs inversus" RELATED [OMIM:614679] synonym: "ciliary dyskinesia, primary, 17; CILD17" RELATED [OMIM:614679] synonym: "ciliary dyskinesia, primary, type 17" EXACT [MONDORULE:2, OMIM:614679] synonym: "primary ciliary dyskinesia 17 with or without situs inversus" EXACT [DOID:0110621] +synonym: "primary ciliary dyskinesia caused by mutation in CCDC103" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 17" EXACT [DOID:0110621, MONDORULE:2] xref: DOID:0110621 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110621"} @@ -270022,6 +273965,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10919/pontine id: MONDO:0013859 name: cataract 38 def: "Any early-onset non-syndromic cataract in which the cause of the disease is a mutation in the AGK gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AGK early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] synonym: "autosomal recessive congenital cataract 5" EXACT [DOID:0110245] synonym: "cataract 38" EXACT [MONDO:Lexical, OMIM:614691] synonym: "cataract 38; CTRCT38" RELATED [OMIM:614691] @@ -270029,12 +273973,13 @@ synonym: "cataract type 38" EXACT [DOID:0110245, MONDORULE:2, OMIM:614691] synonym: "cataract, autosomal recessive congenital 5" RELATED [OMIM:614691] synonym: "CATC5" EXACT [DOID:0110245] synonym: "CTRCT38" EXACT [DOID:0110245, MONDO:Lexical, OMIM:614691] +synonym: "early-onset non-syndromic cataract caused by mutation in AGK" EXACT [MONDO:design_pattern] xref: DOID:0110245 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110245"} xref: OMIM:614691 {source="DOID:0110245", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="OMIM:614691", source="MONDO:subClassOf"} xref: UMLS:C3553494 {source="NCBI:mim2gene_medline", source="OMIM:614691", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:614691"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110245", source="MONDO:Redundant", source="OMIM:614691"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21869 ! AGK @@ -270062,7 +274007,7 @@ xref: Orphanet:97560 {source="MONDO:equivalentTo", source="OMIM:614692"} xref: SCTID:722119002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0086445 {source="Orphanet:97560", source="MONDO:equivalentTo"} xref: UMLS:C3553496 {source="NCBI:mim2gene_medline", source="OMIM:614692"} -is_a: MONDO:0005376 {source="MONDOLEX:0013860", source="NCIT:C123060"} ! membranous glomerulonephritis +is_a: MONDO:0005376 {source="MONDOLEX:0013860", source="NCIT:C123060", source="linkedlifedata"} ! membranous glomerulonephritis is_a: MONDO:0015163 {source="Orphanet:97560"} ! primary glomerular disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7154 {source="mim2gene_medgen"} ! MME property_value: confidence "2.692307692307692" xsd:double @@ -270075,15 +274020,17 @@ synonym: "ALS17" EXACT [DOID:0060208, OMIM:614696] synonym: "ALS17" RELATED [MONDO:Lexical, OMIM:614696] synonym: "amyotrophic lateral sclerosis 17" EXACT [DOID:0060208, MONDO:Lexical, OMIM:614696] synonym: "amyotrophic lateral sclerosis 17; ALS17" RELATED [OMIM:614696] +synonym: "amyotrophic lateral sclerosis caused by mutation in CHMP2B" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 17" EXACT [MONDORULE:2, OMIM:614696] synonym: "amyotrophic lateral sclerosis, Chmp2B-Related" RELATED [OMIM:614696] +synonym: "CHMP2B amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] synonym: "CHMP2B-related amyotrophic lateral sclerosis" EXACT [DOID:0060208, OMIM:614696] xref: DOID:0060208 {source="MONDO:equivalentTo"} xref: MESH:C563708 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:614696 {source="DOID:0060208", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:614696", source="MONDO:subClassOf"} xref: UMLS:C1836076 {source="OMIM:614696", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0004976 {source="MESH:C563708", source="MONDO:Redundant", source="OMIM:614696"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0060208", source="MESH:C563708", source="MONDO:Redundant", source="OMIM:614696"} ! amyotrophic lateral sclerosis is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24537 ! CHMP2B @@ -270133,7 +274080,9 @@ def: "Any Cornelia de Lange syndrome in which the cause of the disease is a muta synonym: "CDLS4" RELATED [MONDO:Lexical, OMIM:614701] synonym: "Cornelia de Lange syndrome 4" EXACT [MONDO:Lexical, OMIM:614701] synonym: "Cornelia DE Lange syndrome 4; CDLS4" RELATED [OMIM:614701] +synonym: "Cornelia de Lange syndrome caused by mutation in RAD21" EXACT [MONDO:design_pattern] synonym: "Cornelia De Lange syndrome type 4" EXACT [MONDORULE:1, OMIM:614701] +synonym: "RAD21 Cornelia de Lange syndrome" EXACT [MONDO:design_pattern] xref: OMIM:614701 {source="MONDO:equivalentTo"} xref: Orphanet:199 {source="OMIM:614701", source="MONDO:subClassOf"} xref: UMLS:C3553517 {source="NCBI:mim2gene_medline", source="OMIM:614701", source="MONDO:equivalentTo"} @@ -270152,8 +274101,10 @@ synonym: "cardiomyopathy, infantile hypertrophic mitochondrial, and lactic acido synonym: "combined oxidative phosphorylation defect type 10" EXACT [Orphanet:314637] synonym: "combined oxidative phosphorylation deficiency 10" RELATED [MONDO:Lexical, OMIM:614702] synonym: "combined oxidative phosphorylation deficiency 10; COXPD10" RELATED [OMIM:614702] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in MTO1" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 10" EXACT [MONDORULE:2, OMIM:614702] synonym: "COXPD10" EXACT [MONDO:Lexical, OMIM:614702, Orphanet:314637] +synonym: "MTO1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: ICD10:I42.2 {source="Orphanet:314637", source="ORDO:314637/attributed", source="ORDO:314637/ntbt"} xref: OMIM:614702 {source="Orphanet:314637", source="MONDO:equivalentTo", source="ORDO:314637/e"} xref: Orphanet:314637 {source="OMIM:614702", source="MONDO:equivalentTo"} @@ -270161,6 +274112,8 @@ xref: UMLS:C3553529 {source="NCBI:mim2gene_medline", source="OMIM:614702", sourc is_a: MONDO:0000732 {source="DC-OMIM:614702", source="OMIM:614702"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016327 {source="Orphanet:314637"} ! mitochondrial disease with hypertrophic cardiomyopathy is_a: MONDO:0018157 {source="Orphanet:314637"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis +intersection_of: MONDO:0000732 {source="mim2gene_medgen"} ! combined oxidative phosphorylation deficiency +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19261 {source="mim2gene_medgen"} ! MTO1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19261 {source="mim2gene_medgen"} ! MTO1 property_value: confidence "2.846153846153847" xsd:double @@ -270174,6 +274127,8 @@ synonym: "ceroid lipofuscinosis, neuronal, 11; CLN11" RELATED [OMIM:614706] synonym: "ceroid lipofuscinosis, neuronal, type 11" EXACT [MONDORULE:2, OMIM:614706] synonym: "CLN11" EXACT [DOID:0110732, MONDO:Lexical, OMIM:614706] synonym: "CLN11 disease" RELATED [Orphanet:314629] +synonym: "GRN neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern] +synonym: "neuronal ceroid lipofuscinosis caused by mutation in GRN" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 11" EXACT [DOID:0110732, MONDORULE:2] xref: DOID:0110732 {source="MONDO:equivalentTo"} xref: ICD10:E75.4 {source="DOID:0110732", source="Orphanet:314629", source="MONDO:subClassOf", source="ORDO:314629/attributed", source="ORDO:314629/ntbt"} @@ -270181,7 +274136,7 @@ xref: OMIM:614706 {source="DOID:0110732", source="Orphanet:314629", source="ORDO xref: Orphanet:314629 {source="DOID:0110732", source="OMIM:614706", source="MONDO:equivalentTo"} xref: Orphanet:79262 {source="OMIM:614706", source="MONDO:subClassOf"} xref: UMLS:C3539123 {source="NCBI:mim2gene_medline", source="OMIM:614706", source="MONDO:equivalentTo"} -is_a: MONDO:0016295 {source="MONDO:Redundant", source="OMIM:614706", source="Orphanet:314629/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID:0110732", source="MONDO:Redundant", source="OMIM:614706", source="Orphanet:314629/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0019260 {source="Orphanet:314629"} ! adult neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4601 ! GRN @@ -270195,8 +274150,10 @@ def: "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is subset: gard_rare {source="GARD:0012861"} synonym: "brown-Vialetto-van Laere syndrome 2" EXACT [MONDO:Lexical, OMIM:614707] synonym: "BROWN-Vialetto-VAN Laere syndrome 2; BVVLS2" RELATED [OMIM:614707] +synonym: "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A2" EXACT [MONDO:design_pattern] synonym: "Brown-Vialetto-Van Laere syndrome type 2" EXACT [MONDORULE:1, OMIM:614707] synonym: "BVVLS2" RELATED [MONDO:Lexical, OMIM:614707] +synonym: "SLC52A2 Brown-Vialetto-van Laere syndrome" EXACT [MONDO:design_pattern] xref: GARD:0012861 {source="MONDO:equivalentTo"} xref: http://identifiers.org/hgnc/30224 {source="GARD:0012861"} xref: OMIM:614707 {source="MONDO:equivalentTo"} @@ -270294,9 +274251,11 @@ property_value: confidence "12.437500000000002" xsd:double id: MONDO:0013871 name: Seckel syndrome 6 def: "Any Seckel syndrome in which the cause of the disease is a mutation in the CEP63 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CEP63 Seckel syndrome" EXACT [MONDO:design_pattern] synonym: "SCKL6" EXACT [DOID:0070006, MONDO:Lexical, OMIM:614728] synonym: "Seckel syndrome 6" EXACT [MONDO:Lexical, OMIM:614728] synonym: "Seckel syndrome 6; SCKL6" RELATED [OMIM:614728] +synonym: "Seckel syndrome caused by mutation in CEP63" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 6" EXACT [MONDORULE:1, OMIM:614728] xref: DOID:0070006 {source="MONDO:equivalentTo"} xref: OMIM:614728 {source="DOID:0070006", source="MONDO:equivalentTo"} @@ -270310,6 +274269,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25 id: MONDO:0013872 name: prostate cancer, hereditary, 2 def: "Any familial prostate cancer in which the cause of the disease is a mutation in the ELAC2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ELAC2 familial prostate cancer" EXACT [MONDO:design_pattern] +synonym: "familial prostate cancer caused by mutation in ELAC2" EXACT [MONDO:design_pattern] synonym: "HPC2" RELATED [MONDO:Lexical, OMIM:614731] synonym: "prostate cancer, hereditary, 2" EXACT [MONDO:Lexical, OMIM:614731] synonym: "prostate cancer, hereditary, 2; HPC2" RELATED [OMIM:614731] @@ -270343,7 +274304,7 @@ xref: OMIM:614732 {source="ORDO:85173/e", source="Orphanet:85173", source="MONDO xref: Orphanet:85173 {source="OMIM:614732", source="MONDO:equivalentTo"} xref: SCTID:702384004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.37"} xref: UMLS:C1846009 {source="OMIM:614732", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="NCIT:C130988", source="Orphanet:85173", source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C130988"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0050885", source="MONDO:Redundant", source="NCIT:C130988"} ! syndromic disease is_a: MONDO:0015129 {source="Orphanet:85173", source="Orphanet:85173/inferred"} ! chronic primary adrenal insufficiency is_a: MONDO:0015620 {source="Orphanet:85173"} ! syndromic urogenital tract malformation is_a: MONDO:0015971 {source="MONDO:Entailed", source="Orphanet:85173", source="Orphanet:85173/inferred"} ! rare genetic adrenal disease @@ -270356,12 +274317,14 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12312/image-s id: MONDO:0013874 name: glucocorticoid deficiency 4 def: "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the NNT gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial glucocorticoid deficiency caused by mutation in NNT" EXACT [MONDO:design_pattern] synonym: "GCCD4" RELATED [MONDO:Lexical, OMIM:614736] synonym: "glucocorticoid deficiency 4" EXACT [MONDO:Lexical, OMIM:614736] synonym: "glucocorticoid deficiency 4 with or without mineralocorticoid deficiency" RELATED [OMIM:614736] synonym: "glucocorticoid deficiency 4 with OR without mineralocorticoid deficiency; GCCD4" RELATED [OMIM:614736] synonym: "glucocorticoid deficiency 4; GCCD4" RELATED [OMIM:614736] synonym: "glucocorticoid deficiency type 4" EXACT [MONDORULE:1, OMIM:614736] +synonym: "NNT familial glucocorticoid deficiency" EXACT [MONDO:design_pattern] xref: OMIM:614736 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="OMIM:614736", source="MONDO:subClassOf"} xref: UMLS:C3553587 {source="NCBI:mim2gene_medline", source="OMIM:614736", source="MONDO:equivalentTo"} @@ -270378,6 +274341,7 @@ def: "Any 3-methylglutaconic aciduria in which the cause of the disease is a mut comment: Present because it is in the OMIM series. {source="OMIM:614739"} subset: gard_rare subset: ordo_disease {source="Orphanet:352328"} +synonym: "3-methylglutaconic aciduria caused by mutation in SERAC1" EXACT [MONDO:design_pattern] synonym: "3-methylglutaconic aciduria type 6" EXACT [DOID:0110001] synonym: "3-methylglutaconic aciduria type VI" RELATED [GARD:0012963] synonym: "3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome" EXACT [MONDO:Lexical, OMIM:614739] @@ -270390,6 +274354,7 @@ synonym: "3-MGCA-4 (formerly)" RELATED [GARD:0012963] synonym: "MEGDEL" EXACT [DOID:0110001, MONDO:Lexical, OMIM:614739] synonym: "MEGDEL syndrome" EXACT [DOID:0110001] synonym: "MGCA6" EXACT [DOID:0110001] +synonym: "SERAC1 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern] synonym: "SERAC1 defect" RELATED [GARD:0012963] xref: DOID:0110001 {source="MONDO:equivalentTo"} xref: GARD:0012963 {source="MONDO:equivalentTo"} @@ -270398,7 +274363,7 @@ xref: OMIM:614739 {source="DOID:0110001", source="Orphanet:352328", source="ORDO xref: Orphanet:352328 {source="DOID:0110001", source="OMIM:614739", source="MONDO:equivalentTo"} xref: SCTID:711409002 {source="MONDO:kboom-pr-1.00/0.74/5.84", source="MONDO:equivalentTo"} xref: UMLS:C3553597 {source="NCBI:mim2gene_medline", source="OMIM:614739", source="MONDO:equivalentTo"} -is_a: MONDO:0017359 {source="DC-OMIM:614739", source="DOID:0110001", source="MONDO:Entailed", source="OMIM:614739", source="Orphanet:352328", source="linkedlifedata"} ! 3-methylglutaconic aciduria +is_a: MONDO:0017359 {source="DC-OMIM:614739", source="DOID:0110001", source="MONDO:Entailed", source="OMIM:614739", source="Orphanet:352328", source="linkedlifedata", source="linkedlifedata/inferred"} ! 3-methylglutaconic aciduria is_a: MONDO:0017718 {source="Orphanet:352328"} ! mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes is_a: MONDO:0018118 {source="Orphanet:352328"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement is_a: MONDO:0019058 {source="Orphanet:352328"} ! neurometabolic disease @@ -270416,7 +274381,9 @@ synonym: "basal cell carcinoma, susceptibility to, 7" EXACT [MONDO:Lexical, OMIM synonym: "basal cell carcinoma, susceptibility to, 7; BCC7" RELATED [OMIM:614740] synonym: "basal cell carcinoma, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:614740] synonym: "BCC7" RELATED [MONDO:Lexical, OMIM:614740] +synonym: "skin basal cell carcinoma caused by mutation in TP53" EXACT [MONDO:design_pattern] synonym: "susceptibility to basal cell carcinoma 7" RELATED [OMIM:614740] +synonym: "TP53 skin basal cell carcinoma" EXACT [MONDO:design_pattern] xref: OMIM:614740 {source="MONDO:equivalentTo"} xref: UMLS:C3553606 {source="OMIM:614740", source="NCBI:mim2gene_medline"} is_a: MONDO:0003847 ! inherited genetic disease @@ -270447,9 +274414,11 @@ id: MONDO:0013878 name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1 def: "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the TERT gene." [MONDO:patterns/disease_series_by_gene] synonym: "PFBMFT1" RELATED [MONDO:Lexical, OMIM:614742] +synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in TERT" EXACT [MONDO:design_pattern] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1" EXACT [MONDO:Lexical, OMIM:614742] synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 1; PFBMFT1" RELATED [OMIM:614742] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-Related, type 1" EXACT [MONDORULE:1, OMIM:614742] +synonym: "TERT pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern] xref: EFO:1001501 {source="MONDO:equivalentTo"} xref: OMIM:614742 {source="MONDO:equivalentTo"} xref: Orphanet:88 {source="OMIM:614742", source="MONDO:relatedTo", source="MONDO:superClassOf"} @@ -270480,10 +274449,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11 id: MONDO:0013880 name: facial paresis, hereditary congenital, 3 def: "Any congenital hereditary facial paralysis-variable hearing loss syndrome in which the cause of the disease is a mutation in the HOXB1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "congenital hereditary facial paralysis-variable hearing loss syndrome caused by mutation in HOXB1" EXACT [MONDO:design_pattern] synonym: "facial paresis, hereditary congenital, 3" EXACT [MONDO:Lexical, OMIM:614744] synonym: "facial paresis, hereditary congenital, 3; HCFP3" RELATED [OMIM:614744] synonym: "Facial paresis, hereditary congenital, type 3" EXACT [MONDORULE:1, OMIM:614744] synonym: "HCFP3" RELATED [MONDO:Lexical, OMIM:614744] +synonym: "HOXB1 congenital hereditary facial paralysis-variable hearing loss syndrome" EXACT [MONDO:design_pattern] xref: OMIM:614744 {source="MONDO:equivalentTo"} xref: Orphanet:306530 {source="OMIM:614744", source="MONDO:subClassOf"} xref: UMLS:C3553625 {source="NCBI:mim2gene_medline", source="OMIM:614744", source="MONDO:equivalentTo"} @@ -270527,6 +274498,8 @@ synonym: "HPMRS2" RELATED [MONDO:Lexical, OMIM:614749] synonym: "hyperphosphatasia with mental retardation syndrome 2" EXACT [MONDO:Lexical, OMIM:614749] synonym: "hyperphosphatasia with mental retardation syndrome 2; HPMRS2" RELATED [OMIM:614749] synonym: "hyperphosphatasia with mental retardation syndrome type 2" EXACT [MONDORULE:1, OMIM:614749] +synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGO" EXACT [MONDO:design_pattern] +synonym: "PIGO hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern] xref: OMIM:614749 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="MONDO:subClassOf", source="OMIM:614749"} xref: UMLS:C3553637 {source="NCBI:mim2gene_medline", source="OMIM:614749", source="MONDO:equivalentTo"} @@ -270545,6 +274518,8 @@ synonym: "CMSTA2" EXACT [DOID:0110676] synonym: "congenital myasthenic syndrome 13 with tubular aggregates" EXACT [DOID:0110676] synonym: "congenital myasthenic syndrome type 13" EXACT [DOID:0110676, MONDORULE:2] synonym: "congenital myasthenic syndrome with tubular aggregates 2" EXACT [DOID:0110676] +synonym: "congenital myasthenic syndromes with glycosylation defect caused by mutation in DPAGT1" EXACT [MONDO:design_pattern] +synonym: "DPAGT1 congenital myasthenic syndromes with glycosylation defect" EXACT [MONDO:design_pattern] synonym: "myasthenic syndrome, congenital, 13" RELATED [MONDO:Lexical, OMIM:614750] synonym: "myasthenic syndrome, congenital, 13; CMS13" RELATED [OMIM:614750] synonym: "myasthenic syndrome, congenital, type 13" EXACT [MONDORULE:2, OMIM:614750] @@ -270568,9 +274543,11 @@ def: "Any neuronopathy, distal hereditary motor in which the cause of the diseas synonym: "dHMN 5B" RELATED [OMIM:614751] synonym: "HMN 5B" RELATED [OMIM:614751] synonym: "HMN5B" RELATED [MONDO:Lexical, OMIM:614751] +synonym: "neuronopathy, distal hereditary motor caused by mutation in REEP1" EXACT [MONDO:design_pattern] synonym: "neuronopathy, distal hereditary motor, type VB" RELATED [MONDO:Lexical, OMIM:614751] synonym: "neuronopathy, distal hereditary motor, type VB; HMN5B" RELATED [OMIM:614751] synonym: "neuropathy, distal hereditary motor, type 5B" RELATED [OMIM:614751] +synonym: "REEP1 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern] synonym: "spinal muscular atrophy, distal, type 5B" RELATED [OMIM:614751] xref: OMIM:614751 {source="MONDO:equivalentTo"} xref: Orphanet:139536 {source="OMIM:614751", source="MONDO:subClassOf"} @@ -270641,7 +274618,9 @@ property_value: confidence "2.249999999999999" xsd:double id: MONDO:0013888 name: tremor, hereditary essential, 4 def: "Any essential tremor in which the cause of the disease is a mutation in the FUS gene." [MONDO:patterns/disease_series_by_gene] +synonym: "essential tremor caused by mutation in FUS" EXACT [MONDO:design_pattern] synonym: "ETM4" RELATED [MONDO:Lexical, OMIM:614782] +synonym: "FUS essential tremor" EXACT [MONDO:design_pattern] synonym: "tremor, hereditary essential, 4" EXACT [MONDO:Lexical, OMIM:614782] synonym: "tremor, hereditary essential, 4; ETM4" RELATED [OMIM:614782] synonym: "tremor, hereditary essential, type 4" EXACT [MONDORULE:1, OMIM:614782] @@ -270702,12 +274681,14 @@ synonym: "ALS18" EXACT [DOID:0060209, OMIM:614808] synonym: "ALS18" RELATED [MONDO:Lexical, OMIM:614808] synonym: "amyotrophic lateral sclerosis 18" EXACT [DOID:0060209, MONDO:Lexical, OMIM:614808] synonym: "amyotrophic lateral sclerosis 18; ALS18" RELATED [OMIM:614808] +synonym: "amyotrophic lateral sclerosis caused by mutation in PFN1" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 18" EXACT [MONDORULE:2, OMIM:614808] +synonym: "PFN1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0060209 {source="MONDO:equivalentTo"} xref: OMIM:614808 {source="DOID:0060209", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="MONDO:subClassOf", source="OMIM:614808"} xref: UMLS:C3553719 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614808"} -is_a: MONDO:0004976 {source="MONDO:Redundant", source="OMIM:614808"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0060209", source="MONDO:Redundant", source="OMIM:614808"} ! amyotrophic lateral sclerosis is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8881 ! PFN1 @@ -270740,10 +274721,12 @@ id: MONDO:0013893 name: multiple sclerosis, susceptibility to, 5 def: "Any multiple sclerosis, susceptibility to in which the cause of the disease is a mutation in the TNFRSF1A gene." [MONDO:patterns/disease_series_by_gene] synonym: "MS5" RELATED [MONDO:Lexical, OMIM:614810] +synonym: "multiple sclerosis, susceptibility to caused by mutation in TNFRSF1A" EXACT [MONDO:design_pattern] synonym: "multiple sclerosis, susceptibility to, 5" EXACT [MONDO:Lexical, OMIM:614810] synonym: "multiple sclerosis, susceptibility to, 5; MS5" RELATED [OMIM:614810] synonym: "multiple sclerosis, susceptibility to, type 5" EXACT [MONDORULE:1, OMIM:614810] synonym: "susceptibility to multiple sclerosis 5" RELATED [OMIM:614810] +synonym: "TNFRSF1A multiple sclerosis, susceptibility to" EXACT [MONDO:design_pattern] xref: OMIM:614810 {source="MONDO:equivalentTo"} xref: Orphanet:802 {source="OMIM:614810"} xref: UMLS:C3553728 {source="NCBI:mim2gene_medline", source="OMIM:614810"} @@ -270758,8 +274741,8 @@ property_value: confidence "5.0" xsd:double id: MONDO:0013894 name: short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome subset: ordo_disease {source="Orphanet:314394"} -synonym: "short stature, onychodysplasia, facial DYSMORPHISM, and hypotrichosis" RELATED [MONDO:Lexical, OMIM:614813] -synonym: "short stature, onychodysplasia, facial DYSMORPHISM, and hypotrichosis; soft" RELATED [OMIM:614813] +synonym: "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis" RELATED [MONDO:Lexical, OMIM:614813] +synonym: "short stature, onychodysplasia, facial dysmorphism, and hypotrichosis; soft" RELATED [OMIM:614813] synonym: "soft" RELATED [MONDO:Lexical, OMIM:614813] synonym: "soft syndrome" EXACT [OMIM:614813, Orphanet:314394] xref: ICD10:Q87.1 {source="ORDO:314394/attributed", source="Orphanet:314394", source="ORDO:314394/ntbt"} @@ -270776,8 +274759,10 @@ name: Adams-Oliver syndrome 3 def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the RBPJ gene." [MONDO:patterns/disease_series_by_gene] synonym: "Adams-Oliver syndrome 3" EXACT [MONDO:Lexical, OMIM:614814] synonym: "Adams-Oliver syndrome 3; AOS3" RELATED [OMIM:614814] +synonym: "Adams-Oliver syndrome caused by mutation in RBPJ" EXACT [MONDO:design_pattern] synonym: "Adams-Oliver syndrome type 3" EXACT [MONDORULE:1, OMIM:614814] synonym: "AOS3" RELATED [MONDO:Lexical, OMIM:614814] +synonym: "RBPJ Adams-Oliver syndrome" EXACT [MONDO:design_pattern] xref: OMIM:614814 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="OMIM:614814", source="MONDO:subClassOf"} xref: UMLS:C3553748 {source="NCBI:mim2gene_medline", source="OMIM:614814", source="MONDO:equivalentTo"} @@ -270794,13 +274779,15 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th synonym: "JBTS18" EXACT [DOID:0110987, MONDO:Lexical, OMIM:614815] synonym: "Joubert syndrome 18" EXACT [MONDO:Lexical, OMIM:614815] synonym: "Joubert syndrome 18; JBTS18" RELATED [OMIM:614815] +synonym: "Joubert syndrome caused by mutation in TCTN3" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 18" EXACT [DOID:0110987, MONDORULE:2, OMIM:614815] +synonym: "TCTN3 Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110987 {source="MONDO:equivalentTo"} xref: OMIM:614815 {source="DOID:0110987", source="MONDO:equivalentTo"} xref: Orphanet:2754 {source="MONDO:subClassOf", source="OMIM:614815"} xref: UMLS:C3553758 {source="NCBI:mim2gene_medline", source="OMIM:614815", source="MONDO:equivalentTo"} is_a: MONDO:0010176 {source="MONDOLEX:0013896", source="Orphanet:Inferred"} ! Joubert syndrome with orofaciodigital defect -is_a: MONDO:0018772 {source="MONDO:Redundant", source="OMIM:614815"} ! Joubert syndrome +is_a: MONDO:0018772 {source="DOID:0110987", source="MONDO:Redundant", source="OMIM:614815"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24519 ! TCTN3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24519 {source="mim2gene_medgen"} ! TCTN3 @@ -270814,7 +274801,9 @@ synonym: "aneurysm, aortic and cerebral, with arterial tortuosity and skeletal m synonym: "LDS4" RELATED [MONDO:Lexical, OMIM:614816] synonym: "Loeys-Dietz syndrome 4" EXACT [MONDO:Lexical, OMIM:614816] synonym: "Loeys-Dietz syndrome 4; LDS4" RELATED [OMIM:614816] +synonym: "Loeys-Dietz syndrome caused by mutation in TGFB2" EXACT [MONDO:design_pattern] synonym: "Loeys-Dietz syndrome type 4" EXACT [MONDORULE:1, OMIM:614816] +synonym: "TGFB2 Loeys-Dietz syndrome" EXACT [MONDO:design_pattern] xref: GARD:0010588 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:614816 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="OMIM:614816", source="MONDO:subClassOf"} @@ -270832,6 +274821,8 @@ name: karyomegalic interstitial nephritis def: "Any interstitial nephritis in which the cause of the disease is a mutation in the FAN1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0011003"} subset: ordo_disease {source="Orphanet:401996"} +synonym: "FAN1 interstitial nephritis" EXACT [MONDO:design_pattern] +synonym: "interstitial nephritis caused by mutation in FAN1" EXACT [MONDO:design_pattern] synonym: "interstitial nephritis, karyomegalic" RELATED [MONDO:Lexical, OMIM:614817] synonym: "interstitial nephritis, karyomegalic; KMIN" RELATED [OMIM:614817] synonym: "kin" EXACT [DOID:0060911, Orphanet:401996] @@ -270855,8 +274846,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11003/karyome id: MONDO:0013899 name: Weill-Marchesani syndrome 3 def: "Any Weill-Marchesani syndrome in which the cause of the disease is a mutation in the LTBP2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "LTBP2 Weill-Marchesani syndrome" EXACT [MONDO:design_pattern] synonym: "Weill-Marchesani syndrome 3" EXACT [MONDO:Lexical, OMIM:614819] synonym: "Weill-Marchesani syndrome 3; WMS3" RELATED [OMIM:614819] +synonym: "Weill-Marchesani syndrome caused by mutation in LTBP2" EXACT [MONDO:design_pattern] synonym: "Weill-Marchesani syndrome type 3" EXACT [MONDORULE:1, OMIM:614819] synonym: "WMS3" RELATED [MONDO:Lexical, OMIM:614819] xref: OMIM:614819 {source="MONDO:equivalentTo"} @@ -270875,7 +274868,9 @@ def: "Any alternating hemiplegia of childhood in which the cause of the disease synonym: "AHC2" RELATED [MONDO:Lexical, OMIM:614820] synonym: "alternating hemiplegia of childhood 2" EXACT [MONDO:Lexical, OMIM:614820] synonym: "alternating hemiplegia of childhood 2; AHC2" RELATED [OMIM:614820] +synonym: "alternating hemiplegia of childhood caused by mutation in ATP1A3" EXACT [MONDO:design_pattern] synonym: "alternating hemiplegia of childhood type 2" EXACT [MONDORULE:1, OMIM:614820] +synonym: "ATP1A3 alternating hemiplegia of childhood" EXACT [MONDO:design_pattern] xref: OMIM:614820 {source="MONDO:equivalentTo"} xref: Orphanet:2131 {source="OMIM:614820", source="MONDO:subClassOf"} xref: UMLS:C3553788 {source="OMIM:614820", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -270889,6 +274884,8 @@ property_value: confidence "4.999999999999999" xsd:double id: MONDO:0013901 name: spermatogenic failure 10 def: "Any azoospermia in which the cause of the disease is a mutation in the SEPT12 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "azoospermia caused by mutation in SEPT12" EXACT [MONDO:design_pattern] +synonym: "SEPT12 azoospermia" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 10" EXACT [MONDO:Lexical, OMIM:614822] synonym: "spermatogenic failure 10; SPGF10" RELATED [OMIM:614822] synonym: "spermatogenic failure type 10" EXACT [MONDORULE:2, OMIM:614822] @@ -270910,10 +274907,12 @@ name: aortic valve disease 2 def: "Any aortic valve disease in which the cause of the disease is a mutation in the SMAD6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "aortic valve disease 2" EXACT [MONDO:Lexical, OMIM:614823] synonym: "aortic valve disease 2; AOVD2" RELATED [OMIM:614823] +synonym: "aortic valve disease caused by mutation in SMAD6" EXACT [MONDO:design_pattern] synonym: "aortic valve disease type 2" EXACT [MONDORULE:1, OMIM:614823] synonym: "aortic valve stenosis" RELATED [OMIM:614823] synonym: "AOVD2" RELATED [MONDO:Lexical, OMIM:614823] synonym: "bicuspid aortic valve" RELATED [OMIM:614823] +synonym: "SMAD6 aortic valve disease" EXACT [MONDO:design_pattern] xref: OMIM:614823 {source="MONDO:equivalentTo"} xref: Orphanet:402075 {source="OMIM:614823", source="MONDO:subClassOf"} xref: UMLS:C3542024 {source="NCBI:mim2gene_medline", source="OMIM:614823", source="MONDO:equivalentTo"} @@ -270943,6 +274942,8 @@ def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of th synonym: "MDDGA8" RELATED [MONDO:Lexical, OMIM:614830] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8" EXACT [MONDO:Lexical, OMIM:614830] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8; MDDGA8" RELATED [OMIM:614830] +synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMGNT2" EXACT [MONDO:design_pattern] +synonym: "POMGNT2 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Gtdc2-Related" RELATED [OMIM:614830] xref: OMIM:614830 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="OMIM:614830", source="MONDO:subClassOf", source="MONDO:relatedTo"} @@ -270959,9 +274960,11 @@ id: MONDO:0013905 name: autosomal recessive spinocerebellar ataxia 13 def: "Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from MGLUR1 deficiency characterized by global developmental delay (beginning in infancy), mild to severe intellectual deficit with poor or absent speech, moderate to severe stance and gait ataxia, pyramidal signs (e.g. hyperreflexia) and mild dysdiadochokinesia, dysmetria, tremors, and/or dysarthria. Oculomotor signs, such as nystagmus, strabismus, ptosis and hypometric saccades, may also be associated. Brain imaging reveals progressive, generalized, moderate to severe cerebellar atrophy, inferior vermian hypoplasia, and/or constitutionally small brain." [Orphanet:324262] subset: ordo_clinical_subtype {source="Orphanet:324262"} +synonym: "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRM1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency" EXACT [Orphanet:324262] synonym: "autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency" RELATED [Orphanet:324262] synonym: "autosomal recessive spinocerebellar ataxia type 13" EXACT [DOID:0080062, MONDORULE:2, Orphanet:324262] +synonym: "GRM1 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" EXACT [MONDO:design_pattern] synonym: "SCAR13" EXACT [MONDO:Lexical, OMIM:614831, Orphanet:324262] synonym: "spinocerebellar ataxia, autosomal recessive 13" RELATED [MONDO:Lexical, OMIM:614831] synonym: "spinocerebellar ataxia, autosomal recessive 13; SCAR13" RELATED [OMIM:614831] @@ -270983,10 +274986,12 @@ id: MONDO:0013906 name: amelogenesis imperfecta hypomaturation type 2A4 def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ODAPH gene." [MONDO:patterns/disease_series_by_gene] synonym: "AI2A4" EXACT [DOID:0110062, MONDO:Lexical, OMIM:614832] +synonym: "amelogenesis imperfecta caused by mutation in ODAPH" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation type IIA4" EXACT [DOID:0110062] synonym: "amelogenesis imperfecta type IIA4" EXACT [DOID:0110062] synonym: "amelogenesis imperfecta, hypomaturation type, IIA4" RELATED [MONDO:Lexical, OMIM:614832] synonym: "amelogenesis imperfecta, hypomaturation type, IIA4; AI2A4" RELATED [OMIM:614832] +synonym: "ODAPH amelogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110062 {source="MONDO:equivalentTo"} xref: ICD10:K00.5 {source="DOID:0110062"} xref: OMIM:614832 {source="DOID:0110062", source="MONDO:equivalentTo"} @@ -270994,7 +274999,7 @@ xref: Orphanet:100033 {source="OMIM:614832", source="MONDO:subClassOf"} xref: UMLS:C3553830 {source="NCBI:mim2gene_medline", source="OMIM:614832", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0015048 {source="MONDOLEX:0013906", source="ORDO:100033/btnt"} ! hypomaturation amelogenesis imperfecta -is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:614832"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="DOID:0110062", source="MONDO:Redundant", source="OMIM:614832"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26300 ! ODAPH relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26300 {source="mim2gene_medgen"} ! ODAPH @@ -271034,7 +275039,7 @@ synonym: "TTPP3" EXACT [MONDO:Lexical, OMIM:614834] xref: OMIM:614834 {source="MONDO:equivalentTo"} xref: Orphanet:79102 {source="OMIM:614834", source="MONDO:subClassOf"} xref: UMLS:C3553839 {source="NCBI:mim2gene_medline", source="OMIM:614834"} -is_a: MONDO:0019201 {source="DC-OMIM:614834"} ! thyrotoxic periodic paralysis +is_a: MONDO:0019201 {source="DC-OMIM:614834", source="OMIM:614834"} ! thyrotoxic periodic paralysis property_value: confidence "29.333333333333442" xsd:double [Term] @@ -271056,12 +275061,14 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m synonym: "HH8" RELATED [MONDO:Lexical, OMIM:614837] synonym: "hypogonadotropic hypogonadism 8 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614837] synonym: "hypogonadotropic hypogonadism 8 with or without anosmia; HH8" RELATED [OMIM:614837] +synonym: "hypogonadotropic hypogonadism caused by mutation in KISS1R" EXACT [MONDO:design_pattern] +synonym: "KISS1R hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] xref: DOID:0090074 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090074", source="MONDO:relatedTo"} xref: OMIM:614837 {source="DOID:0090074", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:614837"} xref: UMLS:C3553841 {source="NCBI:mim2gene_medline", source="OMIM:614837", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:Redundant", source="OMIM:614837"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090074", source="MONDO:Redundant", source="OMIM:614837"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4510 ! KISS1R @@ -271075,11 +275082,13 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m synonym: "HH9" RELATED [MONDO:Lexical, OMIM:614838] synonym: "hypogonadotropic hypogonadism 9 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614838] synonym: "hypogonadotropic hypogonadism 9 with or without anosmia; HH9" RELATED [OMIM:614838] +synonym: "hypogonadotropic hypogonadism caused by mutation in NSMF" EXACT [MONDO:design_pattern] +synonym: "NSMF hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] xref: DOID:0090085 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090085", source="MONDO:relatedTo"} xref: OMIM:614838 {source="DOID:0090085", source="MONDO:equivalentTo"} xref: UMLS:C3553842 {source="NCBI:mim2gene_medline", source="OMIM:614838", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:Redundant", source="OMIM:614838"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090085", source="MONDO:Redundant", source="OMIM:614838"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29843 ! NSMF @@ -271093,6 +275102,8 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m synonym: "HH10" RELATED [MONDO:Lexical, OMIM:614839] synonym: "hypogonadotropic hypogonadism 10 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614839] synonym: "hypogonadotropic hypogonadism 10 with or without anosmia; HH10" RELATED [OMIM:614839] +synonym: "hypogonadotropic hypogonadism caused by mutation in TAC3" EXACT [MONDO:design_pattern] +synonym: "TAC3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] xref: DOID:0090089 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090089", source="MONDO:relatedTo"} xref: OMIM:614839 {source="DOID:0090089", source="MONDO:equivalentTo"} @@ -271110,11 +275121,13 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m synonym: "HH11" RELATED [MONDO:Lexical, OMIM:614840] synonym: "hypogonadotropic hypogonadism 11 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614840] synonym: "hypogonadotropic hypogonadism 11 with or without anosmia; HH11" RELATED [OMIM:614840] +synonym: "hypogonadotropic hypogonadism caused by mutation in TACR3" EXACT [MONDO:design_pattern] +synonym: "TACR3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] xref: DOID:0090071 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090071", source="MONDO:relatedTo"} xref: OMIM:614840 {source="DOID:0090071", source="MONDO:equivalentTo"} xref: UMLS:C3553844 {source="NCBI:mim2gene_medline", source="OMIM:614840", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:Redundant", source="OMIM:614840"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090071", source="MONDO:Redundant", source="OMIM:614840"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11528 ! TACR3 @@ -271158,6 +275171,8 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m synonym: "HH13" RELATED [MONDO:Lexical, OMIM:614842] synonym: "hypogonadotropic hypogonadism 13 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614842] synonym: "hypogonadotropic hypogonadism 13 with or without anosmia; HH13" RELATED [OMIM:614842] +synonym: "hypogonadotropic hypogonadism caused by mutation in KISS1" EXACT [MONDO:design_pattern] +synonym: "KISS1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] xref: DOID:0090073 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090073", source="MONDO:relatedTo"} xref: OMIM:614842 {source="DOID:0090073", source="MONDO:equivalentTo"} @@ -271245,9 +275260,11 @@ def: "Any herpes simplex encephalitis in which the cause of the disease is a mut synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 5" RELATED [OMIM:614849] synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 5; IIAE5" RELATED [OMIM:614849] synonym: "encephalopathy, acute, infection-induced, susceptibility to, 5" RELATED [OMIM:614849] +synonym: "herpes simplex encephalitis caused by mutation in TRAF3" EXACT [MONDO:design_pattern] synonym: "herpes simplex encephalitis, susceptibility to, 3" EXACT [OMIM:614849] synonym: "Herpes simplex encephalitis, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:614849] synonym: "IIAE5" RELATED [OMIM:614849] +synonym: "TRAF3 herpes simplex encephalitis" EXACT [MONDO:design_pattern] xref: OMIM:614849 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="OMIM:614849", source="MONDO:subClassOf"} xref: UMLS:C3553868 {source="NCBI:mim2gene_medline", source="OMIM:614849"} @@ -271265,9 +275282,11 @@ def: "Any herpes simplex encephalitis in which the cause of the disease is a mut synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 6" RELATED [OMIM:614850] synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 6; IIAE6" RELATED [OMIM:614850] synonym: "encephalopathy, acute, infection-induced, susceptibility to, 6" RELATED [OMIM:614850] +synonym: "herpes simplex encephalitis caused by mutation in TICAM1" EXACT [MONDO:design_pattern] synonym: "herpes simplex encephalitis, susceptibility to, 4" EXACT [OMIM:614850] synonym: "Herpes simplex encephalitis, susceptibility to, type 4" EXACT [MONDORULE:1, OMIM:614850] synonym: "IIAE6" RELATED [OMIM:614850] +synonym: "TICAM1 herpes simplex encephalitis" EXACT [MONDO:design_pattern] xref: OMIM:614850 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="OMIM:614850", source="MONDO:subClassOf"} xref: UMLS:C3553869 {source="OMIM:614850", source="NCBI:mim2gene_medline"} @@ -271285,9 +275304,11 @@ def: "Microcephalic primordial dwarfism, Dauber type is a rare, genetic developm comment: ORDO calls this microcephalic primordial dwarfism, Dauber type subset: ordo_malformation_syndrome {source="Orphanet:319675"} synonym: "microcephalic primordial dwarfism, Dauber type" EXACT [Orphanet:319675] +synonym: "NIN Seckel syndrome" EXACT [MONDO:design_pattern] synonym: "SCKL7" EXACT [DOID:0070011, MONDO:Lexical, OMIM:614851] synonym: "Seckel syndrome 7" EXACT [MONDO:Lexical, OMIM:614851] synonym: "Seckel syndrome 7; SCKL7" RELATED [OMIM:614851] +synonym: "Seckel syndrome caused by mutation in NIN" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 7" EXACT [MONDORULE:1, OMIM:614851] xref: DOID:0070011 {source="MONDO:equivalentTo"} xref: ICD10:Q87.1 {source="ORDO:319675/attributed", source="ORDO:319675/ntbt", source="Orphanet:319675"} @@ -271304,6 +275325,8 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0013923 name: microcephaly 9, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CEP152 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive primary microcephaly caused by mutation in CEP152" EXACT [MONDO:design_pattern] +synonym: "CEP152 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern] synonym: "MCPH9" RELATED [MONDO:Lexical, OMIM:614852] synonym: "microcephaly 9, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:614852] synonym: "microcephaly 9, primary, autosomal recessive; MCPH9" RELATED [OMIM:614852] @@ -271319,8 +275342,10 @@ property_value: confidence "0.5073248878127503" xsd:double id: MONDO:0013924 name: osteogenesis imperfecta type 13 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the BMP1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BMP1 osteogenesis imperfecta" EXACT [MONDO:design_pattern] synonym: "OI, type 13" RELATED [OMIM:614856] synonym: "OI13" EXACT [DOID:0110342, MONDO:Lexical, OMIM:614856] +synonym: "osteogenesis imperfecta caused by mutation in BMP1" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type XIII" EXACT [DOID:0110342] synonym: "osteogenesis imperfecta, type 13" RELATED [OMIM:614856] synonym: "osteogenesis imperfecta, type XIII" RELATED [MONDO:Lexical, OMIM:614856] @@ -271366,11 +275391,13 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m synonym: "HH14" RELATED [MONDO:Lexical, OMIM:614858] synonym: "hypogonadotropic hypogonadism 14 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614858] synonym: "hypogonadotropic hypogonadism 14 with or without anosmia; HH14" RELATED [OMIM:614858] +synonym: "hypogonadotropic hypogonadism caused by mutation in WDR11" EXACT [MONDO:design_pattern] +synonym: "WDR11 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] xref: DOID:0090087 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090087", source="MONDO:relatedTo"} xref: OMIM:614858 {source="DOID:0090087", source="MONDO:equivalentTo"} xref: UMLS:C3540450 {source="NCBI:mim2gene_medline", source="OMIM:614858", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:Redundant", source="OMIM:614858"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090087", source="MONDO:Redundant", source="OMIM:614858"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13831 ! WDR11 @@ -271399,11 +275426,13 @@ name: dystonia 23 def: "Any dystonic disorder in which the cause of the disease is a mutation in the CACNA1B gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:420492"} synonym: "adult-onset cervical dystonia, DYT23 type" RELATED [Orphanet:420492] +synonym: "CACNA1B dystonic disorder" EXACT [MONDO:design_pattern] synonym: "Dystonia 23" EXACT [Orphanet:420492] synonym: "dystonia 23" EXACT [MONDO:Lexical, OMIM:614860] synonym: "dystonia 23; DYT23" RELATED [OMIM:614860] synonym: "Dystonia type 23" EXACT [MONDORULE:2, OMIM:614860] synonym: "dystonia type 23" EXACT [DOID:0090051, MONDORULE:2] +synonym: "dystonic disorder caused by mutation in CACNA1B" EXACT [MONDO:design_pattern] synonym: "DYT23" EXACT [MONDO:Lexical, OMIM:614860, Orphanet:420492] xref: DOID:0090051 {source="MONDO:equivalentTo"} xref: ICD10:G24.8 {source="ORDO:420492/attributed", source="DOID:0090051", source="ORDO:420492/ntbt", source="Orphanet:420492"} @@ -271411,7 +275440,7 @@ xref: OMIM:614860 {source="DOID:0090051", source="MONDO:equivalentTo", source="O xref: Orphanet:420492 {source="DOID:0090051", source="OMIM:614860", source="MONDO:equivalentTo"} xref: UMLS:C3538999 {source="NCBI:mim2gene_medline", source="OMIM:614860", source="MONDO:equivalentTo"} is_a: MONDO:0000477 {source="DOID:0090051"} ! focal dystonia -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:614860"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090051/inferred", source="MONDO:Redundant", source="OMIM:614860"} ! dystonic disorder is_a: MONDO:0015990 {source="Orphanet:420492"} ! focal, segmental or multifocal dystonia intersection_of: MONDO:0003441 ! dystonic disorder intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1389 ! CACNA1B @@ -271424,11 +275453,13 @@ name: autosomal recessive nonsyndromic deafness 98 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the TSPEAR gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "autosomal recessive deafness 98" EXACT [DOID:0110540] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in TSPEAR" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 98" EXACT [DOID:0110540, MONDORULE:2] synonym: "deafness, autosomal recessive 98" RELATED [MONDO:Lexical, OMIM:614861] synonym: "deafness, autosomal recessive 98; DFNB98" RELATED [OMIM:614861] synonym: "deafness, autosomal recessive type 98" EXACT [MONDORULE:2, OMIM:614861] synonym: "DFNB98" EXACT [DOID:0110540, MONDO:Lexical, OMIM:614861] +synonym: "TSPEAR autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110540 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110540"} xref: OMIM:614861 {source="DOID:0110540", source="MONDO:equivalentTo"} @@ -271532,7 +275563,9 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0013935 name: Usher syndrome type 1J def: "Any Usher syndrome in which the cause of the disease is a mutation in the CIB2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CIB2 Usher syndrome" EXACT [MONDO:design_pattern] synonym: "USH1J" EXACT [DOID:0110836, MONDO:Lexical, OMIM:614869] +synonym: "Usher syndrome caused by mutation in CIB2" EXACT [MONDO:design_pattern] synonym: "Usher syndrome type Ij" EXACT [DOID:0110836] synonym: "Usher syndrome, type 1J" RELATED [OMIM:614869] synonym: "USHER syndrome, type Ij" RELATED [MONDO:Lexical, OMIM:614869] @@ -271544,7 +275577,7 @@ xref: Orphanet:231169 {source="OMIM:614869", source="MONDO:subClassOf"} xref: Orphanet:886 {source="OMIM:614869", source="MONDO:subClassOf"} xref: UMLS:C3553944 {source="NCBI:mim2gene_medline", source="OMIM:614869", source="MONDO:equivalentTo"} is_a: MONDO:0010168 {source="DOID:0110836", source="MONDOLEX:0013935"} ! Usher syndrome type 1 -is_a: MONDO:0019501 {source="MONDO:Redundant", source="OMIM:614869"} ! Usher syndrome +is_a: MONDO:0019501 {source="DOID:0110836/inferred", source="MONDO:Redundant", source="OMIM:614869"} ! Usher syndrome intersection_of: MONDO:0019501 ! Usher syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24579 ! CIB2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24579 {source="mim2gene_medgen"} ! CIB2 @@ -271626,7 +275659,9 @@ synonym: "ciliary dyskinesia, primary, 18" RELATED [MONDO:Lexical, OMIM:614874] synonym: "ciliary dyskinesia, primary, 18, with or without situs inversus" RELATED [OMIM:614874] synonym: "ciliary dyskinesia, primary, 18; CILD18" RELATED [OMIM:614874] synonym: "ciliary dyskinesia, primary, type 18" EXACT [MONDORULE:2, OMIM:614874] +synonym: "DNAAF5 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 18 with or without situs inversus" EXACT [DOID:0110604] +synonym: "primary ciliary dyskinesia caused by mutation in DNAAF5" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 18" EXACT [DOID:0110604, MONDORULE:2] xref: DOID:0110604 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110604"} @@ -271729,14 +275764,16 @@ id: MONDO:0013946 name: hypogonadotropic hypogonadism 15 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the HS6ST1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "HH15" RELATED [MONDO:Lexical, OMIM:614880] +synonym: "HS6ST1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] synonym: "hypogonadotropic hypogonadism 15 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614880] synonym: "hypogonadotropic hypogonadism 15 with or without anosmia; HH15" RELATED [OMIM:614880] +synonym: "hypogonadotropic hypogonadism caused by mutation in HS6ST1" EXACT [MONDO:design_pattern] xref: DOID:0090075 {source="MONDO:equivalentTo"} xref: ICD10:23.0 {source="DOID:0090075"} xref: OMIM:614880 {source="DOID:0090075", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:614880"} xref: UMLS:C3553977 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614880"} -is_a: MONDO:0018555 {source="MONDO:Redundant", source="OMIM:614880"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090075", source="MONDO:Redundant", source="OMIM:614880"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5201 ! HS6ST1 @@ -271854,11 +275891,13 @@ id: MONDO:0013953 name: immunodeficiency 28 def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the IFNGR2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Ifngr2 deficiency" RELATED [OMIM:614889] +synonym: "IFNGR2 primary immunodeficiency disease" EXACT [MONDO:design_pattern] synonym: "IMD28" RELATED [MONDO:Lexical, OMIM:614889] synonym: "immunodeficiency 28" EXACT [MONDO:Lexical, OMIM:614889] synonym: "immunodeficiency 28, Mycobacteriosis" RELATED [OMIM:614889] synonym: "immunodeficiency 28; IMD28" RELATED [OMIM:614889] synonym: "immunodeficiency type 28" EXACT [MONDORULE:2, OMIM:614889] +synonym: "primary immunodeficiency disease caused by mutation in IFNGR2" EXACT [MONDO:design_pattern] xref: OMIM:614889 {source="MONDO:equivalentTo"} xref: Orphanet:319547 {source="OMIM:614889", source="MONDO:superClassOf"} xref: Orphanet:319574 {source="OMIM:614889", source="MONDO:superClassOf"} @@ -271978,9 +276017,11 @@ name: Charcot-Marie-tooth disease type 4F def: "Charcot-Marie-Tooth disease type 4F (CMT4F) is a severe, demyelinating subtype of Charcot-Marie-Tooth disease type 4 characterized by the childhood onset of a slowly-progressing typical CMT phenotype (i.e. distal muscle weakness and atrophy, as well as pes cavus) that presents severe sensory loss (frequently with sensory ataxia), moderately to severely reduced motor nerve conduction velocities and almost invariable absence of sensory nerve action potentials, and delayed motor milestones." [Orphanet:99952] subset: gard_rare {source="GARD:0012441"} subset: ordo_disease {source="Orphanet:99952"} +synonym: "Charcot-Marie-tooth disease type 4 caused by mutation in PRX" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4F" RELATED [MONDO:Lexical, OMIM:614895] synonym: "Charcot-Marie-Tooth disease, demyelinating, type 4F; CMT4F" RELATED [OMIM:614895] synonym: "CMT4F" EXACT [DOID:0110193, MONDO:Lexical, OMIM:614895, Orphanet:99952] +synonym: "PRX Charcot-Marie-tooth disease type 4" EXACT [MONDO:design_pattern] xref: DOID:0110193 {source="MONDO:equivalentTo"} xref: GARD:0012441 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="Orphanet:99952", source="ORDO:99952/attributed", source="ORDO:99952/ntbt", source="DOID:0110193"} @@ -271988,7 +276029,7 @@ xref: OMIM:614895 {source="ORDO:99952/e", source="Orphanet:99952", source="DOID: xref: Orphanet:99952 {source="OMIM:614895", source="DOID:0110193", source="MONDO:equivalentTo"} xref: SCTID:715801001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C3540453 {source="NCBI:mim2gene_medline", source="OMIM:614895", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:614895", source="Orphanet:99952/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110193/inferred", source="MONDO:Redundant", source="OMIM:614895", source="Orphanet:99952/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018995 {source="DOID:0110193", source="Orphanet:99952", source="linkedlifedata"} ! Charcot-Marie-tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-tooth disease type 4 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13797 ! PRX @@ -272019,11 +276060,13 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m synonym: "HH16" RELATED [MONDO:Lexical, OMIM:614897] synonym: "hypogonadotropic hypogonadism 16 with or without anosmia" EXACT [MONDO:Lexical, OMIM:614897] synonym: "hypogonadotropic hypogonadism 16 with or without anosmia; HH16" RELATED [OMIM:614897] +synonym: "hypogonadotropic hypogonadism caused by mutation in SEMA3A" EXACT [MONDO:design_pattern] +synonym: "SEMA3A hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] xref: DOID:0090080 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090080"} xref: OMIM:614897 {source="MONDO:equivalentTo", source="DOID:0090080"} xref: UMLS:C3554021 {source="OMIM:614897", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:Redundant", source="OMIM:614897"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090080", source="MONDO:Redundant", source="OMIM:614897"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10723 ! SEMA3A @@ -272035,12 +276078,14 @@ id: MONDO:0013962 name: hereditary spastic paraplegia 53 def: "gene (8p22) encoding vacuolar protein sorting-associated protein 37A." [Orphanet:319199] subset: ordo_disease {source="Orphanet:319199"} +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in VPS37A" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 53" EXACT [DOID:0110805] synonym: "autosomal recessive spastic paraplegia type 53" EXACT [DOID:0110805] synonym: "hereditary spastic paraplegia type 53" EXACT [DOID:0110805, MONDORULE:2] synonym: "spastic paraplegia 53, autosomal recessive" RELATED [MONDO:Lexical, OMIM:614898] synonym: "spastic paraplegia 53, autosomal recessive; SPG53" RELATED [OMIM:614898] synonym: "SPG53" EXACT [DOID:0110805, MONDO:Lexical, OMIM:614898, Orphanet:319199] +synonym: "VPS37A autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] xref: DOID:0110805 {source="MONDO:equivalentTo"} xref: ICD10:G11.4 {source="Orphanet:319199", source="ORDO:319199/attributed", source="ORDO:319199/ntbt", source="MONDO:subClassOf", source="DOID:0110805"} xref: OMIM:614898 {source="Orphanet:319199", source="ORDO:319199/e", source="MONDO:equivalentTo", source="DOID:0110805"} @@ -272048,7 +276093,7 @@ xref: Orphanet:319199 {source="OMIM:614898", source="MONDO:equivalentTo", source xref: UMLS:C3539494 {source="NCBI:mim2gene_medline", source="OMIM:614898", source="MONDO:equivalentTo"} xref: UMLS:C4510082 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:319199"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:614898", source="Orphanet:319199/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110805", source="MONDO:Redundant", source="OMIM:614898", source="Orphanet:319199/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24928 ! VPS37A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24928 {source="mim2gene_medgen"} ! VPS37A @@ -272059,7 +276104,9 @@ id: MONDO:0013963 name: autosomal recessive nonsyndromic deafness 93 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CABP2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 93" EXACT [DOID:0110537] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CABP2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 93" EXACT [DOID:0110537, MONDORULE:2] +synonym: "CABP2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal recessive 93" RELATED [MONDO:Lexical, OMIM:614899] synonym: "deafness, autosomal recessive 93; DFNB93" RELATED [OMIM:614899] synonym: "deafness, autosomal recessive type 93" EXACT [MONDORULE:2, OMIM:614899] @@ -272081,7 +276128,9 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio synonym: "DBA11" RELATED [MONDO:Lexical, OMIM:614900] synonym: "Diamond-Blackfan anemia 11" EXACT [MONDO:Lexical, OMIM:614900] synonym: "DIAMOND-Blackfan ANEMIA 11; DBA11" RELATED [OMIM:614900] +synonym: "Diamond-Blackfan anemia caused by mutation in RPL26" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 11" EXACT [MONDORULE:2, OMIM:614900] +synonym: "RPL26 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: OMIM:614900 {source="MONDO:equivalentTo"} xref: UMLS:C3554042 {source="NCBI:mim2gene_medline", source="OMIM:614900", source="MONDO:equivalentTo"} is_a: MONDO:0015253 {source="DC-OMIM:614900", source="MONDOLEX:0013964", source="OMIM:614900"} ! Diamond-Blackfan anemia @@ -272092,11 +276141,14 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10 [Term] id: MONDO:0013965 name: lethal congenital contracture syndrome 4 +def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the MYBPC1 gene." [MONDO:design_pattern] subset: gard_rare {source="GARD:0012645"} synonym: "LCCS4" RELATED [MONDO:Lexical, OMIM:614915] synonym: "lethal congenital contracture syndrome 4" EXACT [MONDO:Lexical, OMIM:614915] synonym: "lethal congenital contracture syndrome 4; LCCS4" RELATED [OMIM:614915] +synonym: "lethal congenital contracture syndrome caused by mutation in MYBPC1" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 4" EXACT [DOID:0060654, MONDORULE:1, OMIM:614915] +synonym: "MYBPC1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060654 {source="MONDO:equivalentTo"} xref: GARD:0012645 {source="MONDO:equivalentTo"} xref: OMIM:614915 {source="MONDO:equivalentTo"} @@ -272112,6 +276164,8 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12645/lethal- id: MONDO:0013966 name: catecholaminergic polymorphic ventricular tachycardia 4 def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the CALM1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CALM1 catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern] +synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in CALM1" EXACT [MONDO:design_pattern] synonym: "catecholaminergic polymorphic ventricular tachycardia type 4" EXACT [DOID:0060678, MONDORULE:1] synonym: "CPVT4" RELATED [MONDO:Lexical, OMIM:614916] synonym: "CVPT4" EXACT [DOID:0060678] @@ -272134,7 +276188,9 @@ name: peroxisome biogenesis disorder 14B def: "Any peroxisome biogenesis disorder in which the cause of the disease is a mutation in the PEX11B gene." [MONDO:patterns/disease_series_by_gene] synonym: "peroxisome biogenesis disorder 14B" EXACT [MONDO:Lexical, OMIM:614920] synonym: "peroxisome biogenesis disorder 14B; PEX14B" RELATED [OMIM:614920] +synonym: "peroxisome biogenesis disorder caused by mutation in PEX11B" EXACT [MONDO:design_pattern] synonym: "peroxisome biogenesis disorder type 14B" EXACT [MONDORULE:4, OMIM:614920] +synonym: "PEX11B peroxisome biogenesis disorder" EXACT [MONDO:design_pattern] synonym: "PEX14B" RELATED [MONDO:Lexical, OMIM:614920] xref: OMIM:614920 {source="MONDO:equivalentTo"} xref: Orphanet:44 {source="OMIM:614920", source="MONDO:subClassOf"} @@ -272191,9 +276247,11 @@ def: "Any combined oxidative phosphorylation deficiency in which the cause of th subset: ordo_disease {source="Orphanet:324535"} synonym: "combined oxidative phosphorylation deficiency 11" RELATED [MONDO:Lexical, OMIM:614922] synonym: "combined oxidative phosphorylation deficiency 11; COXPD11" RELATED [OMIM:614922] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in RMND1" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 11" EXACT [MONDORULE:2, OMIM:614922] synonym: "COXPD11" EXACT [MONDO:Lexical, OMIM:614922, Orphanet:324535] synonym: "Encephaloneuromyopathy, infantile, due to mitochondrial translation defect" RELATED [OMIM:614922] +synonym: "RMND1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: ICD10:G31.8 {source="Orphanet:324535", source="ORDO:324535/attributed", source="ORDO:324535/ntbt"} xref: OMIM:614922 {source="ORDO:324535/e", source="Orphanet:324535", source="MONDO:equivalentTo"} xref: Orphanet:324535 {source="OMIM:614922", source="MONDO:equivalentTo"} @@ -272237,8 +276295,10 @@ subset: ordo_disease {source="Orphanet:314051"} synonym: "combined oxidative phosphorylation defect type 12" EXACT [Orphanet:314051] synonym: "combined oxidative phosphorylation deficiency 12" RELATED [MONDO:Lexical, OMIM:614924] synonym: "combined oxidative phosphorylation deficiency 12; COXPD12" RELATED [OMIM:614924] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in EARS2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 12" EXACT [MONDORULE:2, OMIM:614924] synonym: "COXPD12" EXACT [MONDO:Lexical, OMIM:614924, Orphanet:314051] +synonym: "EARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] synonym: "leukoencephalopathy with thalamus and brainstem involvement and high lactate" RELATED [OMIM:614924] synonym: "LTBL" EXACT [Orphanet:314051] xref: GARD:0013381 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} @@ -272249,6 +276309,8 @@ is_a: MONDO:0000732 {source="DC-OMIM:614924", source="OMIM:614924"} ! combined o is_a: MONDO:0018157 {source="Orphanet:314051"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis is_a: MONDO:0019046 {source="Orphanet:314051"} ! leukodystrophy is_a: MONDO:0024237 {source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder +intersection_of: MONDO:0000732 {source="mim2gene_medgen"} ! combined oxidative phosphorylation deficiency +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29419 {source="mim2gene_medgen"} ! EARS2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29419 {source="mim2gene_medgen"} ! EARS2 property_value: confidence "2.846153846153847" xsd:double @@ -272256,8 +276318,10 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0013972 name: Perrault syndrome 2 def: "Any Perrault syndrome in which the cause of the disease is a mutation in the HARS2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HARS2 Perrault syndrome" EXACT [MONDO:design_pattern] synonym: "Perrault syndrome 2" EXACT [MONDO:Lexical, OMIM:614926] synonym: "Perrault syndrome 2; PRLTS2" RELATED [OMIM:614926] +synonym: "Perrault syndrome caused by mutation in HARS2" EXACT [MONDO:design_pattern] synonym: "Perrault syndrome type 2" EXACT [MONDORULE:1, OMIM:614926] synonym: "PRLTS2" RELATED [MONDO:Lexical, OMIM:614926] xref: OMIM:614926 {source="MONDO:equivalentTo"} @@ -272299,6 +276363,8 @@ def: "Any pure hair and nail ectodermal dysplasia in which the cause of the dise synonym: "ECTD7" RELATED [MONDO:Lexical, OMIM:614929] synonym: "ectodermal dysplasia 7, hair/nail type" EXACT [MONDO:Lexical, OMIM:614929] synonym: "ectodermal dysplasia 7, hair/nail type; ECTD7" RELATED [OMIM:614929] +synonym: "KRT74 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern] +synonym: "pure hair and nail ectodermal dysplasia caused by mutation in KRT74" EXACT [MONDO:design_pattern] xref: OMIM:614929 {source="MONDO:equivalentTo"} xref: Orphanet:69084 {source="MONDO:subClassOf", source="OMIM:614929"} xref: UMLS:C3554117 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614929"} @@ -272316,6 +276382,8 @@ def: "Any pure hair and nail ectodermal dysplasia in which the cause of the dise synonym: "ECTD9" RELATED [MONDO:Lexical, OMIM:614931] synonym: "ectodermal dysplasia 9, hair/nail type" EXACT [MONDO:Lexical, OMIM:614931] synonym: "ectodermal dysplasia 9, hair/nail type; ECTD9" RELATED [OMIM:614931] +synonym: "HOXC13 pure hair and nail ectodermal dysplasia" EXACT [MONDO:design_pattern] +synonym: "pure hair and nail ectodermal dysplasia caused by mutation in HOXC13" EXACT [MONDO:design_pattern] xref: OMIM:614931 {source="MONDO:equivalentTo"} xref: Orphanet:69084 {source="OMIM:614931", source="MONDO:subClassOf"} xref: UMLS:C3554127 {source="NCBI:mim2gene_medline", source="OMIM:614931", source="MONDO:equivalentTo"} @@ -272333,8 +276401,10 @@ def: "Combined oxidative phosphorylation defect type 13 is a rare mitochondrial subset: ordo_disease {source="Orphanet:319514"} synonym: "combined oxidative phosphorylation deficiency 13" RELATED [MONDO:Lexical, OMIM:614932] synonym: "combined oxidative phosphorylation deficiency 13; COXPD13" RELATED [OMIM:614932] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in PNPT1" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 13" EXACT [MONDORULE:2, OMIM:614932] synonym: "COXPD13" EXACT [MONDO:Lexical, OMIM:614932, Orphanet:319514] +synonym: "PNPT1 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: ICD10:G71.3 {source="ORDO:319514/attributed", source="ORDO:319514/ntbt", source="Orphanet:319514"} xref: OMIM:614932 {source="ORDO:319514/e", source="Orphanet:319514", source="MONDO:equivalentTo"} xref: Orphanet:319514 {source="OMIM:614932", source="MONDO:equivalentTo"} @@ -272351,11 +276421,13 @@ id: MONDO:0013978 name: autosomal recessive nonsyndromic deafness 70 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the PNPT1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 70" EXACT [DOID:0110521] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in PNPT1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 70" EXACT [DOID:0110521, MONDORULE:2] synonym: "deafness, autosomal recessive 70" RELATED [MONDO:Lexical, OMIM:614934] synonym: "deafness, autosomal recessive 70; DFNB70" RELATED [OMIM:614934] synonym: "deafness, autosomal recessive type 70" EXACT [MONDORULE:2, OMIM:614934] synonym: "DFNB70" EXACT [DOID:0110521, MONDO:Lexical, OMIM:614934] +synonym: "PNPT1 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110521 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110521"} xref: OMIM:614934 {source="DOID:0110521", source="MONDO:equivalentTo"} @@ -272374,7 +276446,9 @@ synonym: "ciliary dyskinesia, primary, 19" RELATED [MONDO:Lexical, OMIM:614935] synonym: "ciliary dyskinesia, primary, 19, with or without situs inversus" RELATED [OMIM:614935] synonym: "ciliary dyskinesia, primary, 19; CILD19" RELATED [OMIM:614935] synonym: "ciliary dyskinesia, primary, type 19" EXACT [MONDORULE:2, OMIM:614935] +synonym: "LRRC6 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 19 with or without situs inversus" EXACT [DOID:0110608] +synonym: "primary ciliary dyskinesia caused by mutation in LRRC6" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 19" EXACT [DOID:0110608, MONDORULE:2] xref: DOID:0110608 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110608"} @@ -272451,11 +276525,13 @@ id: MONDO:0013984 name: autosomal recessive nonsyndromic deafness 84B def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOGL gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 84B" EXACT [DOID:0110530] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOGL" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 84B" EXACT [DOID:0110530, MONDORULE:4] synonym: "deafness, autosomal recessive 84B" RELATED [MONDO:Lexical, OMIM:614944] synonym: "deafness, autosomal recessive 84B; DFNB84B" RELATED [OMIM:614944] synonym: "deafness, autosomal recessive type 84B" EXACT [MONDORULE:4, OMIM:614944] synonym: "DFNB84B" EXACT [DOID:0110530, MONDO:Lexical, OMIM:614944] +synonym: "OTOGL autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110530 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110530"} xref: OMIM:614944 {source="DOID:0110530", source="MONDO:equivalentTo"} @@ -272470,11 +276546,13 @@ id: MONDO:0013985 name: autosomal recessive nonsyndromic deafness 18B def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the OTOG gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 18B" EXACT [DOID:0110474] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in OTOG" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 18B" EXACT [DOID:0110474, MONDORULE:4] synonym: "deafness, autosomal recessive 18B" RELATED [MONDO:Lexical, OMIM:614945] synonym: "deafness, autosomal recessive 18B; DFNB18B" RELATED [OMIM:614945] synonym: "deafness, autosomal recessive type 18B" EXACT [MONDORULE:4, OMIM:614945] synonym: "DFNB18B" EXACT [DOID:0110474, MONDO:Lexical, OMIM:614945] +synonym: "OTOG autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110474 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110474"} xref: OMIM:614945 {source="DOID:0110474", source="MONDO:equivalentTo"} @@ -272491,8 +276569,10 @@ def: "Any combined oxidative phosphorylation deficiency in which the cause of th subset: ordo_disease {source="Orphanet:319519"} synonym: "combined oxidative phosphorylation deficiency 14" RELATED [MONDO:Lexical, OMIM:614946] synonym: "combined oxidative phosphorylation deficiency 14; COXPD14" RELATED [OMIM:614946] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in FARS2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 14" EXACT [MONDORULE:2, OMIM:614946] synonym: "COXPD14" EXACT [MONDO:Lexical, OMIM:614946, Orphanet:319519] +synonym: "FARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: ICD10:E88.8 {source="ORDO:319519/attributed", source="Orphanet:319519", source="ORDO:319519/ntbt"} xref: OMIM:614946 {source="ORDO:319519/e", source="Orphanet:319519", source="MONDO:equivalentTo"} xref: Orphanet:319519 {source="OMIM:614946", source="MONDO:equivalentTo"} @@ -272511,8 +276591,10 @@ def: "Combined oxidative phosphorylation defect type 15 is a rare mitochondrial subset: ordo_disease {source="Orphanet:319524"} synonym: "combined oxidative phosphorylation deficiency 15" RELATED [MONDO:Lexical, OMIM:614947] synonym: "combined oxidative phosphorylation deficiency 15; COXPD15" RELATED [OMIM:614947] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in MTFMT" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 15" EXACT [MONDORULE:2, OMIM:614947] synonym: "COXPD15" EXACT [MONDO:Lexical, OMIM:614947, Orphanet:319524] +synonym: "MTFMT combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: ICD10:G31.8 {source="ORDO:319524/ntbt", source="Orphanet:319524", source="ORDO:319524/attributed"} xref: OMIM:614947 {source="ORDO:319524/e", source="Orphanet:319524", source="MONDO:equivalentTo"} xref: Orphanet:319524 {source="OMIM:614947", source="MONDO:equivalentTo"} @@ -272540,10 +276622,12 @@ is_a: MONDO:0003847 ! inherited genetic disease id: MONDO:0013989 name: epileptic encephalopathy, early infantile, 14 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNT1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in KCNT1" EXACT [MONDO:design_pattern] synonym: "EIEE14" RELATED [MONDO:Lexical, OMIM:614959] synonym: "epileptic encephalopathy, early infantile, 14" EXACT [MONDO:Lexical, OMIM:614959] synonym: "epileptic encephalopathy, early infantile, 14; EIEE14" RELATED [OMIM:614959] synonym: "epileptic encephalopathy, early infantile, type 14" EXACT [MONDORULE:2, OMIM:614959] +synonym: "KCNT1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:614959 {source="MONDO:equivalentTo"} xref: Orphanet:293181 {source="OMIM:614959", source="MONDO:subClassOf"} xref: UMLS:C3554195 {source="NCBI:mim2gene_medline", source="OMIM:614959", source="MONDO:equivalentTo"} @@ -272560,6 +276644,8 @@ id: MONDO:0013990 name: pontocerebellar hypoplasia type 8 def: "gene. MRI demonstrates a pontocerebellar hypoplasia with vermis and hemispheres equally affected and mild to severely reduced cerebral white matter volume with a fully formed very thin corpus callosum." [Orphanet:324569] subset: ordo_malformation_syndrome {source="Orphanet:324569"} +synonym: "CHMP1A non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern] +synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in CHMP1A" EXACT [MONDO:design_pattern] synonym: "PCH8" EXACT [MONDO:Lexical, OMIM:614961, Orphanet:324569] synonym: "pontocerebellar hypoplasia due to CHMP1A mutation" EXACT [Orphanet:324569] synonym: "pontocerebellar hypoplasia, type 8" RELATED [MONDO:Lexical, OMIM:614961] @@ -272570,7 +276656,7 @@ xref: OMIM:614961 {source="Orphanet:324569", source="ORDO:324569/e", source="DOI xref: Orphanet:324569 {source="OMIM:614961", source="DOID:0060277", source="MONDO:equivalentTo"} xref: SCTID:718611007 {source="MONDO:kboom-pr-1.00/0.80/10.13", source="MONDO:equivalentTo"} xref: UMLS:C3554209 {source="NCBI:mim2gene_medline", source="OMIM:614961", source="MONDO:equivalentTo"} -is_a: MONDO:0020135 {source="DC-OMIM:614961", source="DOID:0060277", source="OMIM:614961", source="Orphanet:324569"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DC-OMIM:614961", source="DOID:0060277", source="OMIM:614961", source="Orphanet:324569", source="linkedlifedata"} ! non-syndromic pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! non-syndromic pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8740 ! CHMP1A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8740 {source="mim2gene_medgen"} ! CHMP1A @@ -272617,17 +276703,19 @@ id: MONDO:0013993 name: pontocerebellar hypoplasia type 7 def: "Pontocerebellar hypoplasia type 7 (PCH7) is a novel very rare form of pontocerebellar hypoplasia (see this term) with unknown etiology and poor prognosis reported in four patients and is characterized clinically during the neonatal period by hypotonia, no palpable gonads, micropenis and from infancy by progressive microcephaly, apneic episodes, poor feeding, seizures and regression of penis. MRI demonstrates a pontocerebellar hypoplasia. PCH7 is expressed as PCH with 46,XY disorder of sex development (see this term) in individuals with XY karyotype, and may be expressed as PCH only in individuals with XX karyotype." [Orphanet:284339] subset: ordo_malformation_syndrome {source="Orphanet:284339"} +synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TOE1" EXACT [MONDO:design_pattern] synonym: "PCH7" EXACT [MONDO:Lexical, OMIM:614969, Orphanet:284339] synonym: "pontocerebellar hypoplasia, type 7" RELATED [MONDO:Lexical, OMIM:614969] synonym: "pontocerebellar hypoplasia, type 7; PCH7" RELATED [OMIM:614969] synonym: "pontocerebellar hypoplasia-46,XY disorder of sex development syndrome" EXACT [Orphanet:284339] +synonym: "TOE1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern] xref: DOID:0060276 {source="MONDO:equivalentTo"} xref: ICD10:Q04.3 {source="ORDO:284339/ntbt", source="Orphanet:284339", source="ORDO:284339/attributed", source="DOID:0060276"} xref: OMIM:614969 {source="ORDO:284339/e", source="Orphanet:284339", source="DOID:0060276", source="MONDO:equivalentTo"} xref: Orphanet:284339 {source="DOID:0060276", source="OMIM:614969", source="MONDO:equivalentTo"} xref: SCTID:718605009 {source="MONDO:kboom-pr-1.00/0.80/10.13", source="MONDO:equivalentTo"} xref: UMLS:C3554226 {source="NCBI:mim2gene_medline", source="OMIM:614969", source="MONDO:equivalentTo"} -is_a: MONDO:0020135 {source="DC-OMIM:614969", source="DOID:0060276", source="OMIM:614969", source="Orphanet:284339"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="DC-OMIM:614969", source="DOID:0060276", source="OMIM:614969", source="Orphanet:284339", source="linkedlifedata"} ! non-syndromic pontocerebellar hypoplasia intersection_of: MONDO:0020135 ! non-syndromic pontocerebellar hypoplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15954 ! TOE1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15954 {source="mim2gene_medgen"} ! TOE1 @@ -272640,7 +276728,9 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th synonym: "JBTS20" EXACT [DOID:0110989, MONDO:Lexical, OMIM:614970] synonym: "Joubert syndrome 20" EXACT [MONDO:Lexical, OMIM:614970] synonym: "Joubert syndrome 20; JBTS20" RELATED [OMIM:614970] +synonym: "Joubert syndrome caused by mutation in TMEM231" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 20" EXACT [DOID:0110989, MONDORULE:2, OMIM:614970] +synonym: "TMEM231 Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110989 {source="MONDO:equivalentTo"} xref: OMIM:614970 {source="DOID:0110989", source="MONDO:equivalentTo"} xref: Orphanet:220493 {source="MONDO:subClassOf", source="OMIM:614970"} @@ -272716,8 +276806,10 @@ name: Carpenter syndrome 2 def: "Any Carpenter syndrome in which the cause of the disease is a mutation in the MEGF8 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Carpenter syndrome 2" EXACT [MONDO:Lexical, OMIM:614976] synonym: "CARPENTER syndrome 2; CRPT2" RELATED [OMIM:614976] +synonym: "Carpenter syndrome caused by mutation in MEGF8" EXACT [MONDO:design_pattern] synonym: "Carpenter syndrome type 2" EXACT [MONDORULE:1, OMIM:614976] synonym: "CRPT2" RELATED [MONDO:Lexical, OMIM:614976] +synonym: "MEGF8 Carpenter syndrome" EXACT [MONDO:design_pattern] xref: OMIM:614976 {source="MONDO:equivalentTo"} xref: Orphanet:65759 {source="OMIM:614976", source="MONDO:subClassOf"} xref: UMLS:C3554247 {source="NCBI:mim2gene_medline", source="OMIM:614976", source="MONDO:equivalentTo"} @@ -272747,6 +276839,8 @@ def: "Any congenital heart malformation in which the cause of the disease is a m synonym: "CHTD2" RELATED [MONDO:Lexical, OMIM:614980] synonym: "congenital heart defects, multiple types, 2" EXACT [MONDO:Lexical, OMIM:614980] synonym: "congenital heart defects, multiple types, 2; CHTD2" RELATED [OMIM:614980] +synonym: "congenital heart malformation caused by mutation in TAB2" EXACT [MONDO:design_pattern] +synonym: "TAB2 congenital heart malformation" EXACT [MONDO:design_pattern] xref: OMIM:614980 {source="MONDO:equivalentTo"} xref: UMLS:C3150216 {source="NCBI:mim2gene_medline"} xref: UMLS:C3554279 {source="OMIM:614980", source="MONDO:equivalentTo"} @@ -272772,18 +276866,20 @@ xref: Orphanet:231169 {source="MONDO:subClassOf", source="OMIM:614990"} xref: Orphanet:886 {source="MONDO:subClassOf", source="OMIM:614990"} xref: UMLS:C3539124 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:614990"} is_a: MONDO:0010168 {source="DOID:0110837", source="MONDOLEX:0014001"} ! Usher syndrome type 1 -is_a: MONDO:0019501 {source="MONDO:Redundant", source="OMIM:614990"} ! Usher syndrome +is_a: MONDO:0019501 {source="DOID:0110837/inferred", source="MONDO:Redundant", source="OMIM:614990"} ! Usher syndrome property_value: confidence "2.4444444444444438" xsd:double [Term] id: MONDO:0014002 name: autosomal dominant nocturnal frontal lobe epilepsy 5 def: "Any autosomal dominant nocturnal frontal lobe epilepsy in which the cause of the disease is a mutation in the KCNT1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant nocturnal frontal lobe epilepsy caused by mutation in KCNT1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nocturnal frontal lobe epilepsy type 5" EXACT [DOID:0060686, MONDORULE:1] synonym: "ENFL5" EXACT [DOID:0060686, MONDO:Lexical, OMIM:615005] synonym: "epilepsy, nocturnal frontal lobe, 5" RELATED [MONDO:Lexical, OMIM:615005] synonym: "epilepsy, nocturnal frontal lobe, 5; ENFL5" RELATED [OMIM:615005] synonym: "epilepsy, nocturnal frontal lobe, type 5" EXACT [MONDORULE:1, OMIM:615005] +synonym: "KCNT1 autosomal dominant nocturnal frontal lobe epilepsy" EXACT [MONDO:design_pattern] synonym: "nocturnal frontal lobe epilepsy 5" EXACT [DOID:0060686] xref: DOID:0060686 {source="MONDO:equivalentTo"} xref: OMIM:615005 {source="DOID:0060686", source="MONDO:equivalentTo"} @@ -272853,7 +276949,7 @@ xref: UMLS:C3808620 {source="OMIM:615008"} is_a: MONDO:0002350 {source="OMIM:615008"} ! familial nephrotic syndrome is_a: MONDO:0005377 {source="DC-OMIM:615008", source="MONDO:Redundant"} ! nephrotic syndrome is_a: MONDO:0016244 {source="MONDOLEX:0014005", source="ORDO:2134/btnt"} ! atypical hemolytic-uremic syndrome -is_a: MONDO:0018904 {source="MONDOLEX:0014005", source="Orphanet:329903"} ! primary membranoproliferative glomerulonephritis +is_a: MONDO:0018904 {source="MONDOLEX:0014005", source="NCIT:C123055", source="Orphanet:329903"} ! primary membranoproliferative glomerulonephritis relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2852 {source="mim2gene_medgen"} ! DGKE property_value: confidence "1.2474747474747478" xsd:double @@ -272890,9 +276986,11 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0014007 name: Aicardi-Goutieres syndrome 6 def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a mutation in the ADAR gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ADAR Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern] synonym: "AGS6" RELATED [MONDO:Lexical, OMIM:615010] synonym: "Aicardi-Goutieres syndrome 6" EXACT [MONDO:Lexical, OMIM:615010] synonym: "Aicardi-Goutieres syndrome 6; AGS6" RELATED [OMIM:615010] +synonym: "Aicardi-Goutieres syndrome caused by mutation in ADAR" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 6" EXACT [MONDORULE:1, OMIM:615010] xref: OMIM:615010 {source="MONDO:equivalentTo"} xref: Orphanet:51 {source="OMIM:615010", source="MONDO:subClassOf"} @@ -272980,6 +277078,7 @@ def: "Autosomal dominant Charcot-Marie-Tooth disease type 2Q is a rare subtype o subset: ordo_disease {source="Orphanet:329258"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Q" EXACT [DOID:0110170] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Q" EXACT [DOID:0110170] +synonym: "Charcot-Marie-tooth disease caused by mutation in DHTKD1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2Q" RELATED [GARD:0012446] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Q" RELATED [OMIM:615025] synonym: "Charcot-Marie-Tooth disease, axonal, type 2Q" RELATED [MONDO:Lexical, OMIM:615025] @@ -272987,13 +277086,14 @@ synonym: "Charcot-Marie-Tooth disease, axonal, type 2Q; CMT2Q" RELATED [OMIM:615 synonym: "Charcot-Marie-Tooth neuropathy type 2Q" EXACT [DOID:0110170] synonym: "Charcot-Marie-Tooth neuropathy, type 2Q" RELATED [OMIM:615025] synonym: "CMT2Q" EXACT [DOID:0110170, MONDO:Lexical, OMIM:615025, Orphanet:329258] +synonym: "DHTKD1 Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] xref: DOID:0110170 {source="MONDO:equivalentTo"} xref: GARD:0012446 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="ORDO:329258/attributed", source="ORDO:329258/ntbt", source="DOID:0110170", source="Orphanet:329258"} xref: OMIM:615025 {source="ORDO:329258/e", source="DOID:0110170", source="MONDO:equivalentTo", source="Orphanet:329258"} xref: Orphanet:329258 {source="DOID:0110170", source="OMIM:615025", source="MONDO:equivalentTo"} xref: UMLS:C3554366 {source="NCBI:mim2gene_medline", source="OMIM:615025", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:615025", source="Orphanet:329258/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110170/inferred", source="MONDO:Redundant", source="OMIM:615025", source="Orphanet:329258/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110170", source="Orphanet:329258"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23537 ! DHTKD1 @@ -273038,6 +277138,8 @@ def: "Any hereditary spastic paraplegia in which the cause of the disease is a m subset: ordo_disease {source="Orphanet:320411"} synonym: "autosomal recessive spastic paraplegia 56" EXACT [DOID:0110808] synonym: "autosomal recessive spastic paraplegia type 56" EXACT [DOID:0110808] +synonym: "CYP2U1 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] +synonym: "hereditary spastic paraplegia caused by mutation in CYP2U1" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 56" EXACT [DOID:0110808, MONDORULE:2] synonym: "spastic paraplegia 56, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615030] synonym: "spastic paraplegia 56, autosomal recessive; SPG56" RELATED [OMIM:615030] @@ -273048,7 +277150,7 @@ xref: OMIM:615030 {source="DOID:0110808", source="ORDO:320411/e", source="Orphan xref: Orphanet:320411 {source="DOID:0110808", source="OMIM:615030", source="MONDO:equivalentTo"} xref: UMLS:C3539507 {source="NCBI:mim2gene_medline", source="OMIM:615030", source="MONDO:equivalentTo"} is_a: MONDO:0017915 {source="Orphanet:320411"} ! pure or complex autosomal recessive spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:615030", source="Orphanet:320411/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110808", source="MONDO:Redundant", source="OMIM:615030", source="Orphanet:320411/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20582 ! CYP2U1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20582 {source="mim2gene_medgen"} ! CYP2U1 @@ -273061,17 +277163,19 @@ def: "Any hereditary spastic paraplegia in which the cause of the disease is a m subset: ordo_disease {source="Orphanet:320385"} synonym: "autosomal recessive spastic paraplegia 49" EXACT [DOID:0110801] synonym: "autosomal recessive spastic paraplegia type 49" EXACT [DOID:0110801] +synonym: "hereditary spastic paraplegia caused by mutation in TECPR2" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 49" EXACT [DOID:0110801, MONDORULE:2] synonym: "spastic paraplegia 49, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615031] synonym: "spastic paraplegia 49, autosomal recessive; SPG49" RELATED [OMIM:615031] synonym: "SPG49" EXACT [DOID:0110801, MONDO:Lexical, OMIM:615031, Orphanet:320385] +synonym: "TECPR2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] xref: DOID:0110801 {source="MONDO:equivalentTo"} xref: ICD10:G11.4 {source="DOID:0110801", source="MONDO:subClassOf", source="ORDO:320385/attributed", source="ORDO:320385/ntbt", source="Orphanet:320385"} xref: OMIM:615031 {source="ORDO:320385/e", source="DOID:0110801", source="MONDO:equivalentTo", source="Orphanet:320385"} xref: Orphanet:320385 {source="OMIM:615031", source="DOID:0110801", source="MONDO:equivalentTo"} xref: UMLS:C3542549 {source="NCBI:mim2gene_medline", source="OMIM:615031", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:320385"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:615031", source="Orphanet:320385/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110801", source="MONDO:Redundant", source="OMIM:615031", source="Orphanet:320385/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19957 ! TECPR2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19957 {source="mim2gene_medgen"} ! TECPR2 @@ -273099,8 +277203,10 @@ id: MONDO:0014018 name: hereditary spastic paraplegia 54 def: "gene (8p11.23) encoding phospholipase DDHD2." [Orphanet:320380] subset: ordo_disease {source="Orphanet:320380"} +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in DDHD2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 54" EXACT [DOID:0110806] synonym: "autosomal recessive spastic paraplegia type 54" EXACT [DOID:0110806] +synonym: "DDHD2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 54" EXACT [DOID:0110806, MONDORULE:2] synonym: "spastic paraplegia 54, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615033] synonym: "spastic paraplegia 54, autosomal recessive; SPG54" RELATED [OMIM:615033] @@ -273112,7 +277218,7 @@ xref: Orphanet:320380 {source="DOID:0110806", source="MONDO:equivalentTo", sourc xref: UMLS:C3539495 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615033"} xref: UMLS:C4510083 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:320380"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:615033", source="Orphanet:320380/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110806", source="MONDO:Redundant", source="OMIM:615033", source="Orphanet:320380/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29106 ! DDHD2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29106 {source="mim2gene_medgen"} ! DDHD2 @@ -273124,12 +277230,14 @@ name: dystonia 24 def: "Any dystonic disorder in which the cause of the disease is a mutation in the ANO3 gene." [MONDO:patterns/disease_series_by_gene] comment: Editor note: DO classifies as purely focal subset: ordo_disease {source="Orphanet:420485"} +synonym: "ANO3 dystonic disorder" EXACT [MONDO:design_pattern] synonym: "cranio-cervical dystonia with laryngeal and upper-limb involvement" RELATED [Orphanet:420485] synonym: "Dystonia 24" EXACT [Orphanet:420485] synonym: "dystonia 24" EXACT [MONDO:Lexical, OMIM:615034] synonym: "dystonia 24; DYT24" RELATED [OMIM:615034] synonym: "Dystonia type 24" EXACT [MONDORULE:2, OMIM:615034] synonym: "dystonia type 24" EXACT [DOID:0090052, MONDORULE:2] +synonym: "dystonic disorder caused by mutation in ANO3" EXACT [MONDO:design_pattern] synonym: "DYT-ANO3" EXACT [https://www.ncbi.nlm.nih.gov/books/NBK1155/, MONDO:cjm] synonym: "DYT24" EXACT [MONDO:Lexical, OMIM:615034, Orphanet:420485] xref: DOID:0090052 {source="MONDO:equivalentTo"} @@ -273138,8 +277246,8 @@ xref: ICD10:G24.8 {source="ORDO:420485/ntbt", source="Orphanet:420485", source=" xref: OMIM:615034 {source="Orphanet:420485", source="DOID:0090052", source="ORDO:420485/e", source="MONDO:equivalentTo"} xref: Orphanet:420485 {source="DOID:0090052", source="MONDO:equivalentTo", source="OMIM:615034"} xref: UMLS:C3554374 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615034"} -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:615034"} ! dystonic disorder -is_a: MONDO:0015990 {source="Orphanet:420485"} ! focal, segmental or multifocal dystonia +is_a: MONDO:0003441 {source="DOID:0090052/inferred", source="MONDO:Redundant", source="OMIM:615034"} ! dystonic disorder +is_a: MONDO:0015990 {source="EFO:0009040", source="Orphanet:420485"} ! focal, segmental or multifocal dystonia intersection_of: MONDO:0003441 ! dystonic disorder intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14004 ! ANO3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14004 {source="mim2gene_medgen"} ! ANO3 @@ -273163,7 +277271,7 @@ xref: UMLS:C3539506 {source="NCBI:mim2gene_medline", source="OMIM:615035", sourc xref: UMLS:C4510214 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:320375", source="Orphanet:320375/inferred"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0018157 {source="Orphanet:320375", source="Orphanet:320375/inferred"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:615035", source="Orphanet:320375/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110807", source="MONDO:Redundant", source="OMIM:615035", source="Orphanet:320375/inferred"} ! hereditary spastic paraplegia property_value: confidence "15.666666666666679" xsd:double [Term] @@ -273191,6 +277299,8 @@ def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of th synonym: "MDDGA10" RELATED [MONDO:Lexical, OMIM:615041] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 10" EXACT [MONDO:Lexical, OMIM:615041] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10; MDDGA10" RELATED [OMIM:615041] +synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in RXYLT1" EXACT [MONDO:design_pattern] +synonym: "RXYLT1 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, Tmem5-Related" RELATED [OMIM:615041] xref: OMIM:615041 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="OMIM:615041", source="MONDO:subClassOf", source="MONDO:relatedTo"} @@ -273237,8 +277347,10 @@ id: MONDO:0014024 name: hereditary spastic paraplegia 43 def: "Autosomal recessive spastic paraplegia type 43 is a rare, complex hereditary spastic paraplegia characterized by a childhood to adolescent onset of progressive lower limb spasticity, associated with mild to severe gait disturbances, extensor plantar responses, muscle weakness and severe distal atrophy, frequently with upper limb involvement. Additional features may include joint contractures, distal sensory loss and brisk or absent deep tendon reflexes. Other signs, such as depression, memory loss, optic atrophy (with vision loss) and brain iron deposition (revealed by brain imagery), have also been reported." [Orphanet:320370] subset: ordo_disease {source="Orphanet:320370"} +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in C19orf12" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 43" EXACT [DOID:0110795] synonym: "autosomal recessive spastic paraplegia type 43" EXACT [DOID:0110795] +synonym: "C19orf12 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 43" EXACT [DOID:0110795, MONDORULE:2] synonym: "spastic paraplegia 43, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615043] synonym: "spastic paraplegia 43, autosomal recessive; SPG43" RELATED [OMIM:615043] @@ -273249,7 +277361,7 @@ xref: OMIM:615043 {source="Orphanet:320370", source="DOID:0110795", source="MOND xref: Orphanet:320370 {source="DOID:0110795", source="OMIM:615043", source="MONDO:equivalentTo"} xref: UMLS:C2680446 {source="NCBI:mim2gene_medline", source="OMIM:615043", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:320370"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:615043", source="Orphanet:320370/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110795", source="MONDO:Redundant", source="OMIM:615043", source="Orphanet:320370/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25443 ! C19orf12 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25443 {source="mim2gene_medgen"} ! C19orf12 @@ -273277,8 +277389,10 @@ id: MONDO:0014026 name: congenital stationary night blindness 1F def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the LRIT3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "congenital stationary night blindness 1F autosomal recessive" EXACT [DOID:0110864] +synonym: "congenital stationary night blindness caused by mutation in LRIT3" EXACT [MONDO:design_pattern] synonym: "congenital stationary night blindness type 1F" EXACT [DOID:0110864, MONDORULE:4] synonym: "CSNB1F" EXACT [DOID:0110864, MONDO:Lexical, OMIM:615058] +synonym: "LRIT3 congenital stationary night blindness" EXACT [MONDO:design_pattern] synonym: "night blindness, congenital stationary, type 1F" RELATED [MONDO:Lexical, OMIM:615058] synonym: "night blindness, congenital stationary, type 1F; CSNB1F" RELATED [OMIM:615058] xref: DOID:0110864 {source="MONDO:equivalentTo"} @@ -273296,14 +277410,16 @@ name: hypotrichosis 11 def: "Any hypotrichosis in which the cause of the disease is a mutation in the SNRPE gene." [MONDO:patterns/disease_series_by_gene] synonym: "hypotrichosis 11" EXACT [MONDO:Lexical, OMIM:615059] synonym: "hypotrichosis 11; HYPT11" RELATED [OMIM:615059] +synonym: "hypotrichosis caused by mutation in SNRPE" EXACT [MONDO:design_pattern] synonym: "hypotrichosis type 11" EXACT [DOID:0110708, MONDORULE:2, OMIM:615059] synonym: "HYPT11" RELATED [MONDO:Lexical, OMIM:615059] synonym: "Hypt11" EXACT [DOID:0110708] +synonym: "SNRPE hypotrichosis" EXACT [MONDO:design_pattern] xref: DOID:0110708 {source="MONDO:equivalentTo"} xref: OMIM:615059 {source="DOID:0110708", source="MONDO:equivalentTo"} xref: Orphanet:55654 {source="OMIM:615059", source="MONDO:subClassOf"} xref: UMLS:C3554409 {source="NCBI:mim2gene_medline", source="OMIM:615059", source="MONDO:equivalentTo"} -is_a: MONDO:0003037 {source="MONDO:Redundant", source="OMIM:615059"} ! hypotrichosis +is_a: MONDO:0003037 {source="DOID:0110708", source="MONDO:Redundant", source="OMIM:615059"} ! hypotrichosis is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11161 ! SNRPE @@ -273319,8 +277435,10 @@ subset: ordo_disease {source="Orphanet:329457"} synonym: "arthrogryposis, distal, type 5D" RELATED [MONDO:Lexical, OMIM:615065] synonym: "arthrogryposis, distal, type 5D; DA5D" RELATED [OMIM:615065] synonym: "DA5D" EXACT [MONDO:Lexical, OMIM:615065, Orphanet:329457] +synonym: "distal arthrogryposis caused by mutation in ECEL1" EXACT [MONDO:design_pattern] synonym: "distal arthrogryposis type 5 without ophthalmoparesis" EXACT [Orphanet:329457] synonym: "distal arthrogryposis type 5 without ophthalmoplegia" EXACT [Orphanet:329457] +synonym: "ECEL1 distal arthrogryposis" EXACT [MONDO:design_pattern] xref: GARD:0013059 {source="MONDO:equivalentTo"} xref: ICD10:Q68.8 {source="ORDO:329457/ntbt", source="ORDO:329457/attributed", source="Orphanet:329457"} xref: OMIM:615065 {source="ORDO:329457/e", source="MONDO:equivalentTo", source="Orphanet:329457"} @@ -273339,10 +277457,12 @@ name: osteogenesis imperfecta type 14 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the TMEM38B gene." [MONDO:patterns/disease_series_by_gene] synonym: "OI, type 14" RELATED [OMIM:615066] synonym: "OI14" EXACT [DOID:0110343, MONDO:Lexical, OMIM:615066] +synonym: "osteogenesis imperfecta caused by mutation in TMEM38B" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type XIV" EXACT [DOID:0110343] synonym: "osteogenesis imperfecta, type 14" RELATED [OMIM:615066] synonym: "osteogenesis imperfecta, type XIV" RELATED [MONDO:Lexical, OMIM:615066] synonym: "osteogenesis imperfecta, type XIV; OI14" RELATED [OMIM:615066] +synonym: "TMEM38B osteogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110343 {source="MONDO:equivalentTo"} xref: ICD10:Q78.0 {source="DOID:0110343", source="MONDO:subClassOf"} xref: OMIM:615066 {source="DOID:0110343", source="MONDO:equivalentTo"} @@ -273358,12 +277478,14 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25 id: MONDO:0014030 name: primary ciliary dyskinesia 20 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC114 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CCDC114 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "CILD20" EXACT [DOID:0110625, MONDO:Lexical, OMIM:615067] synonym: "ciliary dyskinesia, primary, 20" RELATED [MONDO:Lexical, OMIM:615067] synonym: "ciliary dyskinesia, primary, 20, with or without situs inversus" RELATED [OMIM:615067] synonym: "ciliary dyskinesia, primary, 20; CILD20" RELATED [OMIM:615067] synonym: "ciliary dyskinesia, primary, type 20" EXACT [MONDORULE:2, OMIM:615067] synonym: "primary ciliary dyskinesia 20 with or without situs inversus" EXACT [DOID:0110625] +synonym: "primary ciliary dyskinesia caused by mutation in CCDC114" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 20" EXACT [DOID:0110625, MONDORULE:2] xref: DOID:0110625 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110625"} @@ -273397,8 +277519,10 @@ id: MONDO:0014032 name: brachydactyly type A1C def: "Any brachydactyly type A1 in which the cause of the disease is a mutation in the GDF5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BDA1C" EXACT [DOID:0110977, MONDO:Lexical, OMIM:615072] +synonym: "brachydactyly type A1 caused by mutation in GDF5" EXACT [MONDO:design_pattern] synonym: "brachydactyly, type A1, C" RELATED [MONDO:Lexical, OMIM:615072] synonym: "brachydactyly, type A1, C; BDA1C" RELATED [OMIM:615072] +synonym: "GDF5 brachydactyly type A1" EXACT [MONDO:design_pattern] xref: DOID:0110977 {source="MONDO:equivalentTo"} xref: OMIM:615072 {source="DOID:0110977", source="MONDO:equivalentTo"} xref: Orphanet:93388 {source="OMIM:615072", source="MONDO:subClassOf"} @@ -273419,14 +277543,16 @@ synonym: "dystonia 25" EXACT [MONDO:Lexical, OMIM:615073] synonym: "dystonia 25; DYT25" RELATED [OMIM:615073] synonym: "Dystonia type 25" EXACT [MONDORULE:2, OMIM:615073] synonym: "dystonia type 25" EXACT [DOID:0090055, MONDORULE:2] +synonym: "dystonic disorder caused by mutation in GNAL" EXACT [MONDO:design_pattern] synonym: "DYT25" RELATED [MONDO:Lexical, OMIM:615073] +synonym: "GNAL dystonic disorder" EXACT [MONDO:design_pattern] xref: DOID:0090055 {source="MONDO:equivalentTo"} xref: ICD10:G24.1 {source="DOID:0090055", source="Orphanet:329466", source="ORDO:329466/ntbt", source="ORDO:329466/attributed"} xref: OMIM:615073 {source="ORDO:329466/e", source="DOID:0090055", source="Orphanet:329466", source="MONDO:equivalentTo"} xref: Orphanet:329466 {source="DOID:0090055", source="OMIM:615073", source="MONDO:equivalentTo"} xref: UMLS:C3554447 {source="NCBI:mim2gene_medline", source="OMIM:615073", source="MONDO:equivalentTo"} is_a: MONDO:0000478 {source="DOID:0090055"} ! multifocal dystonia -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:615073"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090055/inferred", source="MONDO:Redundant", source="OMIM:615073"} ! dystonic disorder is_a: MONDO:0015990 {source="Orphanet:329466"} ! focal, segmental or multifocal dystonia intersection_of: MONDO:0003441 ! dystonic disorder intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4388 ! GNAL @@ -273507,6 +277633,8 @@ is_a: MONDO:0004975 {source="DC-OMIM:615080", source="DOID:0110049", source="MON id: MONDO:0014037 name: spermatogenic failure 11 def: "Any azoospermia in which the cause of the disease is a mutation in the KLHL10 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "azoospermia caused by mutation in KLHL10" EXACT [MONDO:design_pattern] +synonym: "KLHL10 azoospermia" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 11" EXACT [MONDO:Lexical, OMIM:615081] synonym: "spermatogenic failure 11; SPGF11" RELATED [OMIM:615081] synonym: "spermatogenic failure type 11" EXACT [MONDORULE:2, OMIM:615081] @@ -273524,11 +277652,13 @@ property_value: confidence "0.18928571428571428" xsd:double id: MONDO:0014038 name: colorectal cancer, susceptibility to, 12 def: "Any colorectal cancer in which the cause of the disease is a mutation in the POLE gene." [MONDO:patterns/disease_series_by_gene] +synonym: "colorectal cancer caused by mutation in POLE" EXACT [MONDO:design_pattern] synonym: "colorectal cancer, susceptibility to, 12" EXACT [MONDO:Lexical, OMIM:615083] synonym: "colorectal cancer, susceptibility to, 12; CRCS12" RELATED [OMIM:615083] synonym: "colorectal cancer, susceptibility to, on chromosome 12Q24" RELATED [OMIM:615083] synonym: "colorectal cancer, susceptibility to, type 12" EXACT [MONDORULE:2, OMIM:615083] synonym: "CRCS12" RELATED [MONDO:Lexical, OMIM:615083] +synonym: "POLE colorectal cancer" EXACT [MONDO:design_pattern] synonym: "susceptibility to colorectal cancer 12" RELATED [OMIM:615083] xref: OMIM:615083 {source="MONDO:equivalentTo"} xref: UMLS:C3554460 {source="NCBI:mim2gene_medline", source="OMIM:615083"} @@ -273544,8 +277674,10 @@ id: MONDO:0014039 name: mitochondrial DNA depletion syndrome 11 def: "Progressive external ophthalmoplegia-myopathy-emaciation syndrome is a rare mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies characterized by progressive external ophthalmoplegia without diplopia, cerebellar atrophy, proximal skeletal muscle weakness with generalized muscle wasting, profound emaciation, respiratory failure, spinal deformity and facial muscle weakness (manifesting with ptosis, dysphonia, dysphagia and nasal speech). Intellectual disability, gastrointestinal symptoms (e.g. nausea, abdominal fullness, and loss of appetite), dilated cardiomyopathy and renal colic have also been reported." [Orphanet:352447] subset: ordo_disease {source="Orphanet:352447"} +synonym: "MGME1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern] synonym: "mitochondrial DNA depletion syndrome 11" EXACT [MONDO:Lexical, OMIM:615084] synonym: "mitochondrial DNA depletion syndrome 11; MTDPS11" RELATED [OMIM:615084] +synonym: "mitochondrial DNA depletion syndrome caused by mutation in MGME1" EXACT [MONDO:design_pattern] synonym: "mitochondrial DNA depletion syndrome type 11" EXACT [DOID:0080129, MONDORULE:2, OMIM:615084] synonym: "mitochondrial DNA maintenance syndrome due to MGME1 deficiency" EXACT [Orphanet:352447] synonym: "mtDNA maintenance syndrome due to MGME1 deficiency" EXACT [Orphanet:352447] @@ -273567,17 +277699,19 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014040 name: autosomal recessive osteopetrosis 8 def: "Any autosomal recessive malignant osteopetrosis in which the cause of the disease is a mutation in the SNX10 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive malignant osteopetrosis caused by mutation in SNX10" EXACT [MONDO:design_pattern] synonym: "autosomal recessive osteopetrosis type 8" EXACT [DOID:0110940, MONDORULE:1] synonym: "OPTB8" EXACT [DOID:0110940, MONDO:Lexical, OMIM:615085] synonym: "osteopetrosis, autosomal recessive 8" RELATED [MONDO:Lexical, OMIM:615085] synonym: "osteopetrosis, autosomal recessive 8; OPTB8" RELATED [OMIM:615085] synonym: "osteopetrosis, autosomal recessive type 8" EXACT [MONDORULE:1, OMIM:615085] +synonym: "SNX10 autosomal recessive malignant osteopetrosis" EXACT [MONDO:design_pattern] xref: DOID:0110940 {source="MONDO:equivalentTo"} xref: NCIT:C150556 {source="MONDO:equivalentTo"} xref: OMIM:615085 {source="DOID:0110940", source="MONDO:equivalentTo"} xref: Orphanet:667 {source="OMIM:615085", source="MONDO:subClassOf"} xref: UMLS:C3554478 {source="NCBI:mim2gene_medline", source="OMIM:615085", source="MONDO:equivalentTo"} -is_a: MONDO:0017198 {source="MONDO:Redundant", source="OMIM:615085"} ! osteopetrosis (disease) +is_a: MONDO:0017198 {source="DOID:0110940", source="MONDO:Redundant", source="NCIT:C150556/inferred", source="OMIM:615085"} ! osteopetrosis (disease) is_a: MONDO:0019026 {source="ORDO:667/btnt"} ! autosomal recessive malignant osteopetrosis intersection_of: MONDO:0019026 ! autosomal recessive malignant osteopetrosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14974 ! SNX10 @@ -273608,8 +277742,10 @@ name: left ventricular noncompaction 7 def: "Any left ventricular noncompaction in which the cause of the disease is a mutation in the MIB1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "left ventricular noncompaction 7" EXACT [MONDO:Lexical, OMIM:615092] synonym: "left ventricular noncompaction 7; LVNC7" RELATED [OMIM:615092] +synonym: "left ventricular noncompaction caused by mutation in MIB1" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction type 7" EXACT [MONDORULE:1, OMIM:615092] synonym: "LVNC7" RELATED [MONDO:Lexical, OMIM:615092] +synonym: "MIB1 left ventricular noncompaction" EXACT [MONDO:design_pattern] xref: OMIM:615092 {source="MONDO:equivalentTo"} xref: Orphanet:54260 {source="OMIM:615092", source="MONDO:subClassOf"} xref: UMLS:C3554496 {source="NCBI:mim2gene_medline", source="OMIM:615092", source="MONDO:equivalentTo"} @@ -273657,10 +277793,12 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0014045 name: Cowden syndrome 3 def: "Any Cowden disease in which the cause of the disease is a mutation in the SDHD gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Cowden disease caused by mutation in SDHD" EXACT [MONDO:design_pattern] synonym: "Cowden syndrome 3" EXACT [MONDO:Lexical, OMIM:615106] synonym: "Cowden syndrome 3; CWS3" RELATED [OMIM:615106] synonym: "Cowden syndrome type 3" EXACT [MONDORULE:1, OMIM:615106] synonym: "CWS3" RELATED [MONDO:Lexical, OMIM:615106] +synonym: "SDHD Cowden disease" EXACT [MONDO:design_pattern] xref: OMIM:615106 {source="MONDO:equivalentTo"} xref: Orphanet:201 {source="OMIM:615106", source="MONDO:subClassOf"} xref: UMLS:C3554516 {source="OMIM:615106", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -273673,10 +277811,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10 id: MONDO:0014046 name: Cowden syndrome 4 def: "Any Cowden disease in which the cause of the disease is a mutation in the KLLN gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Cowden disease caused by mutation in KLLN" EXACT [MONDO:design_pattern] synonym: "Cowden syndrome 4" EXACT [MONDO:Lexical, OMIM:615107] synonym: "Cowden syndrome 4; CWS4" RELATED [OMIM:615107] synonym: "Cowden syndrome type 4" EXACT [MONDORULE:1, OMIM:615107] synonym: "CWS4" RELATED [MONDO:Lexical, OMIM:615107] +synonym: "KLLN Cowden disease" EXACT [MONDO:design_pattern] xref: OMIM:615107 {source="MONDO:equivalentTo"} xref: Orphanet:201 {source="OMIM:615107", source="MONDO:subClassOf"} xref: UMLS:C3554517 {source="NCBI:mim2gene_medline", source="OMIM:615107", source="MONDO:equivalentTo"} @@ -273689,10 +277829,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/37 id: MONDO:0014047 name: Cowden syndrome 5 def: "Any Cowden disease in which the cause of the disease is a mutation in the PIK3CA gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Cowden disease caused by mutation in PIK3CA" EXACT [MONDO:design_pattern] synonym: "Cowden syndrome 5" EXACT [MONDO:Lexical, OMIM:615108] synonym: "Cowden syndrome 5; CWS5" RELATED [OMIM:615108] synonym: "Cowden syndrome type 5" EXACT [MONDORULE:1, OMIM:615108] synonym: "CWS5" RELATED [MONDO:Lexical, OMIM:615108] +synonym: "PIK3CA Cowden disease" EXACT [MONDO:design_pattern] xref: OMIM:615108 {source="MONDO:equivalentTo"} xref: Orphanet:201 {source="OMIM:615108", source="MONDO:subClassOf"} xref: UMLS:C3554518 {source="NCBI:mim2gene_medline", source="OMIM:615108", source="MONDO:equivalentTo"} @@ -273705,6 +277847,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/89 id: MONDO:0014048 name: Cowden syndrome 6 def: "Any Cowden disease in which the cause of the disease is a mutation in the AKT1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AKT1 Cowden disease" EXACT [MONDO:design_pattern] +synonym: "Cowden disease caused by mutation in AKT1" EXACT [MONDO:design_pattern] synonym: "Cowden syndrome 6" EXACT [MONDO:Lexical, OMIM:615109] synonym: "Cowden syndrome 6; CWS6" RELATED [OMIM:615109] synonym: "Cowden syndrome type 6" EXACT [MONDORULE:1, OMIM:615109] @@ -273721,6 +277865,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/39 id: MONDO:0014049 name: urofacial syndrome 2 def: "Any Ochoa syndrome in which the cause of the disease is a mutation in the LRIG2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "LRIG2 Ochoa syndrome" EXACT [MONDO:design_pattern] +synonym: "Ochoa syndrome caused by mutation in LRIG2" EXACT [MONDO:design_pattern] synonym: "UFS2" RELATED [MONDO:Lexical, OMIM:615112] synonym: "urofacial syndrome 2" EXACT [MONDO:Lexical, OMIM:615112] synonym: "urofacial syndrome 2; UFS2" RELATED [OMIM:615112] @@ -273736,6 +277882,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 id: MONDO:0014050 name: isolated microphthalmia 8 def: "Any isolated microphthalmia in which the cause of the disease is a mutation in the ALDH1A3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ALDH1A3 isolated microphthalmia" EXACT [MONDO:design_pattern] +synonym: "isolated microphthalmia caused by mutation in ALDH1A3" EXACT [MONDO:design_pattern] synonym: "isolated microphthalmia type 8" EXACT [DOID:0060841, MONDORULE:1] synonym: "MCOP8" EXACT [DOID:0060841, MONDO:Lexical, OMIM:615113] synonym: "microphthalmia, isolated 8" RELATED [MONDO:Lexical, OMIM:615113] @@ -273761,6 +277909,8 @@ synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2; CEMCOX2" RELATED [OMIM:615119] synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 2" EXACT [MONDORULE:1, OMIM:615119] synonym: "CEMCOX2" RELATED [MONDO:Lexical, OMIM:615119] +synonym: "COX15 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern] +synonym: "fatal infantile encephalocardiomyopathy caused by mutation in COX15" EXACT [MONDO:design_pattern] xref: OMIM:615119 {source="MONDO:equivalentTo"} xref: Orphanet:1561 {source="OMIM:615119", source="MONDO:subClassOf"} xref: UMLS:C3554534 {source="NCBI:mim2gene_medline", source="OMIM:615119", source="MONDO:equivalentTo"} @@ -273774,8 +277924,10 @@ property_value: confidence "3.0" xsd:double id: MONDO:0014052 name: congenital myasthenic syndrome 8 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the AGRN gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AGRN congenital myasthenic syndrome" EXACT [MONDO:design_pattern] synonym: "CMS8" EXACT [DOID:0110657, MONDO:Lexical, OMIM:615120] synonym: "congenital myasthenic syndrome 8 with pre- and postsynaptic defects" EXACT [DOID:0110657] +synonym: "congenital myasthenic syndrome caused by mutation in AGRN" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome due to agrin deficiency" EXACT [DOID:0110657] synonym: "congenital myasthenic syndrome type 8" EXACT [DOID:0110657, MONDORULE:1] synonym: "myasthenic syndrome, congenital, 8" RELATED [MONDO:Lexical, OMIM:615120] @@ -273788,7 +277940,7 @@ xref: OMIM:615120 {source="DOID:0110657", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:615120", source="MONDO:subClassOf"} xref: Orphanet:98914 {source="OMIM:615120", source="MONDO:subClassOf"} xref: UMLS:C3808739 {source="NCBI:mim2gene_medline", source="OMIM:615120", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:615120"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110657", source="MONDO:Redundant", source="OMIM:615120"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome @@ -273811,9 +277963,11 @@ name: lymphoproliferative syndrome 2 def: "Any lymphoproliferative syndrome in which the cause of the disease is a mutation in the CD27 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CD27 deficiency" EXACT [DOID:0060708] synonym: "CD27 deficiency" RELATED [OMIM:615122] +synonym: "CD27 lymphoproliferative syndrome" EXACT [MONDO:design_pattern] synonym: "LPFS2" EXACT [DOID:0060708, MONDO:Lexical, OMIM:615122] synonym: "lymphoproliferative syndrome 2" EXACT [MONDO:Lexical, OMIM:615122] synonym: "lymphoproliferative syndrome 2; LPFS2" RELATED [OMIM:615122] +synonym: "lymphoproliferative syndrome caused by mutation in CD27" EXACT [MONDO:design_pattern] synonym: "lymphoproliferative syndrome type 2" EXACT [DOID:0060708, MONDORULE:1, OMIM:615122] xref: DOID:0060708 {source="MONDO:equivalentTo"} xref: ICD10:D47.9 {source="DOID:0060708"} @@ -273821,7 +277975,7 @@ xref: OMIM:615122 {source="DOID:0060708", source="MONDO:equivalentTo"} xref: Orphanet:238505 {source="MONDO:subClassOf", source="OMIM:615122"} xref: UMLS:C3554540 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615122"} is_a: MONDO:0016536 {source="ORDO:238505/btnt"} ! autosomal recessive lymphoproliferative disease -is_a: MONDO:0016537 {source="MONDO:Redundant", source="OMIM:615122"} ! lymphoproliferative syndrome +is_a: MONDO:0016537 {source="DOID:0060708", source="MONDO:Redundant", source="OMIM:615122"} ! lymphoproliferative syndrome intersection_of: MONDO:0016537 ! lymphoproliferative syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11922 ! CD27 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11922 {source="mim2gene_medgen"} ! CD27 @@ -273879,8 +278033,8 @@ id: MONDO:0014058 name: facial dysmorphism-immunodeficiency-livedo-short stature syndrome def: "Facial dysmorphism-immunodeficiency-livedo-short stature syndrome is a rare genetic disease characterized by facial dysmorphism with malar hypoplasia and high forehead, immunodeficiency resulting in recurrent infections, impaired growth (with normal growth hormone production and response) resulting in short stature, and livedo affecting face and extremities. Immunological analyses show low memory B-cell and naïve T cell counts, decreased T cell proliferation, and reduced IgM, IgG2 and IgG4 titers. Patients do not exhibit increased susceptibility to cancer." [Orphanet:352712] subset: ordo_disease {source="Orphanet:352712"} -synonym: "facial DYSMORPHISM, immunodeficiency, livedo, and short stature" RELATED [MONDO:Lexical, OMIM:615139] -synonym: "facial DYSMORPHISM, immunodeficiency, livedo, and short stature; fils" RELATED [OMIM:615139] +synonym: "facial dysmorphism, immunodeficiency, livedo, and short stature" RELATED [MONDO:Lexical, OMIM:615139] +synonym: "facial dysmorphism, immunodeficiency, livedo, and short stature; fils" RELATED [OMIM:615139] synonym: "fils" RELATED [MONDO:Lexical, OMIM:615139] synonym: "fils syndrome" EXACT [Orphanet:352712] xref: ICD10:Q87.1 {source="Orphanet:352712", source="ORDO:352712/ntbt", source="ORDO:352712/attributed"} @@ -273900,7 +278054,9 @@ def: "Any microphthalmia, isolated, with coloboma in which the cause of the dise synonym: "MCOPCB9" RELATED [MONDO:Lexical, OMIM:615145] synonym: "microphthalmia, isolated, with coloboma 9" EXACT [MONDO:Lexical, OMIM:615145] synonym: "microphthalmia, isolated, with coloboma 9; MCOPCB9" RELATED [OMIM:615145] +synonym: "microphthalmia, isolated, with coloboma caused by mutation in TENM3" EXACT [MONDO:design_pattern] synonym: "microphthalmia, isolated, with coloboma type 9" EXACT [MONDORULE:1, OMIM:615145] +synonym: "TENM3 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern] xref: OMIM:615145 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="MONDO:subClassOf", source="OMIM:615145"} xref: UMLS:C3554592 {source="NCBI:mim2gene_medline", source="OMIM:615145", source="MONDO:equivalentTo"} @@ -273924,7 +278080,7 @@ xref: OMIM:615147 {source="Orphanet:352718", source="ORDO:352718/e", source="MON xref: Orphanet:352718 {source="OMIM:615147", source="MONDO:equivalentTo"} xref: UMLS:C3554593 {source="NCBI:mim2gene_medline", source="OMIM:615147", source="MONDO:equivalentTo"} is_a: MONDO:0017760 {source="Orphanet:352718"} ! disorder of other vitamins and cofactors metabolism and transport -is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:352718"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:352718"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9922 {source="mim2gene_medgen"} ! RBP4 property_value: confidence "2.692307692307692" xsd:double @@ -273972,14 +278128,16 @@ name: mitochondrial complex III deficiency nuclear type 2 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the TTC19 gene." [MONDO:patterns/disease_series_by_gene] synonym: "MC3DN2" EXACT [DOID:0060351, MONDO:Lexical, OMIM:615157] synonym: "mitochondrial Complex 3 deficiency, nuclear type 2" RELATED [OMIM:615157] +synonym: "mitochondrial complex III deficiency caused by mutation in TTC19" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 2" RELATED [MONDO:Lexical, OMIM:615157] synonym: "mitochondrial complex III deficiency, nuclear type 2; MC3DN2" RELATED [OMIM:615157] +synonym: "TTC19 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern] xref: DOID:0060351 {source="MONDO:equivalentTo"} xref: OMIM:615157 {source="DOID:0060351", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="MONDO:subClassOf", source="OMIM:615157"} xref: UMLS:C3554605 {source="NCBI:mim2gene_medline", source="OMIM:615157", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615157"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0060351", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26006 ! TTC19 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26006 {source="mim2gene_medgen"} ! TTC19 @@ -273991,14 +278149,16 @@ name: mitochondrial complex III deficiency nuclear type 3 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRB gene." [MONDO:patterns/disease_series_by_gene] synonym: "MC3DN3" RELATED [MONDO:Lexical, OMIM:615158] synonym: "mitochondrial Complex 3 deficiency, nuclear type 3" RELATED [OMIM:615158] +synonym: "mitochondrial complex III deficiency caused by mutation in UQCRB" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 3" RELATED [MONDO:Lexical, OMIM:615158] synonym: "mitochondrial complex III deficiency, nuclear type 3; MC3DN3" RELATED [OMIM:615158] +synonym: "UQCRB mitochondrial complex III deficiency" EXACT [MONDO:design_pattern] xref: DOID:0080112 {source="MONDO:equivalentTo"} xref: OMIM:615158 {source="DOID:0080112", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="OMIM:615158", source="MONDO:subClassOf"} xref: UMLS:C3554606 {source="NCBI:mim2gene_medline", source="OMIM:615158", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615158"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080112", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12582 ! UQCRB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12582 {source="mim2gene_medgen"} ! UQCRB @@ -274010,14 +278170,16 @@ name: mitochondrial complex III deficiency nuclear type 4 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRQ gene." [MONDO:patterns/disease_series_by_gene] synonym: "MC3DN4" RELATED [MONDO:Lexical, OMIM:615159] synonym: "mitochondrial Complex 3 deficiency, nuclear type 4" RELATED [OMIM:615159] +synonym: "mitochondrial complex III deficiency caused by mutation in UQCRQ" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 4" RELATED [MONDO:Lexical, OMIM:615159] synonym: "mitochondrial complex III deficiency, nuclear type 4; MC3DN4" RELATED [OMIM:615159] +synonym: "UQCRQ mitochondrial complex III deficiency" EXACT [MONDO:design_pattern] xref: DOID:0080113 {source="MONDO:equivalentTo"} xref: OMIM:615159 {source="DOID:0080113", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="OMIM:615159", source="MONDO:subClassOf"} xref: UMLS:C3554607 {source="OMIM:615159", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615159"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080113", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29594 ! UQCRQ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29594 {source="mim2gene_medgen"} ! UQCRQ @@ -274029,14 +278191,16 @@ name: mitochondrial complex III deficiency nuclear type 5 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCRC2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "MC3DN5" RELATED [MONDO:Lexical, OMIM:615160] synonym: "mitochondrial Complex 3 deficiency, nuclear type 5" RELATED [OMIM:615160] +synonym: "mitochondrial complex III deficiency caused by mutation in UQCRC2" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 5" RELATED [MONDO:Lexical, OMIM:615160] synonym: "mitochondrial complex III deficiency, nuclear type 5; MC3DN5" RELATED [OMIM:615160] +synonym: "UQCRC2 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern] xref: DOID:0080114 {source="MONDO:equivalentTo"} xref: OMIM:615160 {source="DOID:0080114", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="OMIM:615160", source="MONDO:subClassOf"} xref: UMLS:C3554608 {source="NCBI:mim2gene_medline", source="OMIM:615160", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615160"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080114", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12586 ! UQCRC2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12586 {source="mim2gene_medgen"} ! UQCRC2 @@ -274094,7 +278258,9 @@ subset: ordo_disease {source="Orphanet:352745"} synonym: "albinism, oculocutaneous, type 7" RELATED [OMIM:615179] synonym: "albinism, oculocutaneous, type VII" RELATED [MONDO:Lexical, OMIM:615179] synonym: "albinism, oculocutaneous, type VII; OCA7" RELATED [OMIM:615179] +synonym: "LRMDA oculocutaneous albinism" EXACT [MONDO:design_pattern] synonym: "OCA7" EXACT [DOID:0070100, MONDO:Lexical, OMIM:615179, Orphanet:352745] +synonym: "oculocutaneous albinism caused by mutation in LRMDA" EXACT [MONDO:design_pattern] synonym: "oculocutaneous albinism type VII" RELATED [DOID:0070100] xref: DOID:0070100 {source="MONDO:equivalentTo"} xref: ICD10:E70.3 {source="Orphanet:352745", source="ORDO:352745/ntbt", source="MONDO:subClassOf", source="ORDO:352745/attributed"} @@ -274113,9 +278279,11 @@ property_value: confidence "15.5625" xsd:double id: MONDO:0014071 name: muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11 def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of the disease is a mutation in the B3GALNT2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "B3GALNT2 muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern] synonym: "MDDGA11" RELATED [MONDO:Lexical, OMIM:615181] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11" EXACT [MONDO:Lexical, OMIM:615181] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 11; MDDGA11" RELATED [OMIM:615181] +synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in B3GALNT2" EXACT [MONDO:design_pattern] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, B3Galnt2-Related" RELATED [OMIM:615181] xref: OMIM:615181 {source="MONDO:equivalentTo"} xref: Orphanet:588 {source="OMIM:615181", source="MONDO:subClassOf"} @@ -274158,9 +278326,11 @@ name: dilated cardiomyopathy 1II def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the CRYAB gene." [MONDO:patterns/disease_series_by_gene] synonym: "cardiomyopathy, dilated, 1II" RELATED [MONDO:Lexical, OMIM:615184] synonym: "cardiomyopathy, dilated, 1II; CMD1II" RELATED [OMIM:615184] -synonym: "cardiomyopathy, dilated, type 1Ii" EXACT [MONDORULE:6, OMIM:615184] +synonym: "cardiomyopathy, dilated, type 1II" EXACT [MONDORULE:6, OMIM:615184] synonym: "CMD1II" EXACT [DOID:0110450, MONDO:Lexical, OMIM:615184] +synonym: "CRYAB familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] synonym: "dilated cardiomyopathy type 1II" EXACT [DOID:0110450, MONDORULE:6] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in CRYAB" EXACT [MONDO:design_pattern] xref: DOID:0110450 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110450", source="MONDO:subClassOf"} xref: OMIM:615184 {source="DOID:0110450", source="MONDO:equivalentTo"} @@ -274203,7 +278373,9 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i synonym: "autosomal dominant cataract 39 multiple types" EXACT [DOID:0110236] synonym: "cataract 39, multiple types" RELATED [MONDO:Lexical, OMIM:615188] synonym: "cataract 39, multiple types; CTRCT39" RELATED [OMIM:615188] +synonym: "CRYGB early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] synonym: "CTRCT39" EXACT [DOID:0110236, MONDO:Lexical, OMIM:615188] +synonym: "early-onset non-syndromic cataract caused by mutation in CRYGB" EXACT [MONDO:design_pattern] xref: DOID:0110236 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110236"} xref: OMIM:615188 {source="DOID:0110236", source="MONDO:equivalentTo"} @@ -274212,7 +278384,7 @@ xref: Orphanet:98988 {source="MONDO:subClassOf", source="MONDO:relatedTo", sourc xref: Orphanet:98994 {source="MONDO:directSiblingOf", source="MONDO:subClassOf", source="OMIM:615188"} xref: Orphanet:98995 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:615188"} xref: UMLS:C3808800 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615188"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:615188"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110236", source="MONDO:Redundant", source="OMIM:615188"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2409 ! CRYGB @@ -274271,10 +278443,12 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014078 name: platelet-type bleeding disorder 15 def: "Any inherited bleeding disorder, platelet-type in which the cause of the disease is a mutation in the ACTN1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ACTN1 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern] synonym: "autosomal dominant macrothrombocytopenia ACTN1-related" EXACT [DOID:0111053] synonym: "BDPLT15" EXACT [DOID:0111053, MONDO:Lexical, OMIM:615193] synonym: "bleeding disorder, PLATELET-type, 15" RELATED [MONDO:Lexical, OMIM:615193] synonym: "bleeding disorder, PLATELET-type, 15; BDPLT15" RELATED [OMIM:615193] +synonym: "inherited bleeding disorder, platelet-type caused by mutation in ACTN1" EXACT [MONDO:design_pattern] synonym: "macrothrombocytopenia, autosomal dominant, Actn1-Related" RELATED [OMIM:615193] xref: DOID:0111053 {source="MONDO:equivalentTo"} xref: OMIM:615193 {source="MONDO:equivalentTo", source="DOID:0111053"} @@ -274356,6 +278530,8 @@ synonym: "agammaglobulinemia 7, autosomal recessive" EXACT [MONDO:Lexical, OMIM: synonym: "agammaglobulinemia 7, autosomal recessive; AGM7" RELATED [OMIM:615214] synonym: "agammaglobulinemia, autosomal recessive, due to PIK3R1 defect" RELATED [OMIM:615214] synonym: "AGM7" RELATED [MONDO:Lexical, OMIM:615214] +synonym: "autosomal agammaglobulinemia caused by mutation in PIK3R1" EXACT [MONDO:design_pattern] +synonym: "PIK3R1 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern] xref: OMIM:615214 {source="MONDO:equivalentTo"} xref: Orphanet:229717 {source="OMIM:615214", source="MONDO:subClassOf"} xref: Orphanet:33110 {source="OMIM:615214", source="MONDO:subClassOf"} @@ -274388,10 +278564,12 @@ property_value: confidence "1.1064814814814814" xsd:double id: MONDO:0014085 name: hydrocephalus, nonsyndromic, autosomal recessive 2 def: "Any congenital hydrocephalus in which the cause of the disease is a mutation in the MPDZ gene." [MONDO:patterns/disease_series_by_gene] +synonym: "congenital hydrocephalus caused by mutation in MPDZ" EXACT [MONDO:design_pattern] synonym: "HYC2" RELATED [MONDO:Lexical, OMIM:615219] synonym: "hydrocephalus, nonsyndromic, autosomal recessive 2" EXACT [MONDO:Lexical, OMIM:615219] synonym: "hydrocephalus, nonsyndromic, autosomal recessive 2; HYC2" RELATED [OMIM:615219] synonym: "hydrocephalus, nonsyndromic, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:615219] +synonym: "MPDZ congenital hydrocephalus" EXACT [MONDO:design_pattern] xref: OMIM:615219 {source="MONDO:equivalentTo"} xref: Orphanet:2185 {source="OMIM:615219", source="MONDO:subClassOf"} xref: UMLS:C3554691 {source="NCBI:mim2gene_medline", source="OMIM:615219", source="MONDO:equivalentTo"} @@ -274407,10 +278585,12 @@ name: osteogenesis imperfecta type 15 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the WNT1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "OI, type 15" RELATED [OMIM:615220] synonym: "OI15" EXACT [DOID:0110347, MONDO:Lexical, OMIM:615220] +synonym: "osteogenesis imperfecta caused by mutation in WNT1" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type XV" EXACT [DOID:0110347] synonym: "osteogenesis imperfecta, type 15" RELATED [OMIM:615220] synonym: "osteogenesis imperfecta, type XV" RELATED [MONDO:Lexical, OMIM:615220] synonym: "osteogenesis imperfecta, type XV; OI15" RELATED [OMIM:615220] +synonym: "WNT1 osteogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110347 {source="MONDO:equivalentTo"} xref: ICD10:Q78.0 {source="DOID:0110347", source="MONDO:subClassOf"} xref: OMIM:615220 {source="DOID:0110347", source="MONDO:equivalentTo"} @@ -274427,9 +278607,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12 id: MONDO:0014087 name: Smith-McCort dysplasia 2 def: "Any Smith-McCort dysplasia in which the cause of the disease is a mutation in the RAB33B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "RAB33B Smith-McCort dysplasia" EXACT [MONDO:design_pattern] synonym: "Smc2" RELATED [MONDO:Lexical, OMIM:615222] synonym: "Smith-McCort dysplasia 2" EXACT [MONDO:Lexical, OMIM:615222] synonym: "SMITH-McCort dysplasia 2; Smc2" RELATED [OMIM:615222] +synonym: "Smith-McCort dysplasia caused by mutation in RAB33B" EXACT [MONDO:design_pattern] synonym: "Smith-McCort dysplasia type 2" EXACT [MONDORULE:1, OMIM:615222] xref: OMIM:615222 {source="MONDO:equivalentTo"} xref: Orphanet:178355 {source="MONDO:subClassOf", source="OMIM:615222"} @@ -274444,10 +278626,12 @@ property_value: confidence "6.142857142857142" xsd:double id: MONDO:0014088 name: advanced sleep phase syndrome 2 def: "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the CSNK1D gene." [MONDO:patterns/disease_series_by_gene] +synonym: "advanced sleep phase syndrome caused by mutation in CSNK1D" EXACT [MONDO:design_pattern] synonym: "advanced sleep phase syndrome type 2" EXACT [DOID:0110012, MONDORULE:1] synonym: "advanced sleep phase syndrome, familial, 2" RELATED [MONDO:Lexical, OMIM:615224] synonym: "advanced sleep phase syndrome, familial, 2; FASPS2" RELATED [OMIM:615224] synonym: "advanced sleep phase syndrome, familial, type 2" EXACT [MONDORULE:1, OMIM:615224] +synonym: "CSNK1D advanced sleep phase syndrome" EXACT [MONDO:design_pattern] synonym: "familial advanced sleep phase syndrome 2" EXACT [DOID:0110012] synonym: "FASPS2" EXACT [DOID:0110012, MONDO:Lexical, OMIM:615224] xref: DOID:0110012 {source="MONDO:equivalentTo"} @@ -274496,9 +278680,11 @@ property_value: confidence "0.7021276595744683" xsd:double id: MONDO:0014091 name: mitochondrial complex v (ATP synthase) deficiency nuclear type 4 def: "Any mitochondrial complex deficiency in which the cause of the disease is a mutation in the ATP5F1A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ATP5F1A mitochondrial complex deficiency" EXACT [MONDO:design_pattern] synonym: "MC5DN4" EXACT [DOID:0060333, MONDO:Lexical, OMIM:615228] synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, Atp5A1 type" RELATED [OMIM:615228] synonym: "mitochondrial Complex 5 (ATP synthase) deficiency, nuclear type 4" RELATED [OMIM:615228] +synonym: "mitochondrial complex deficiency caused by mutation in ATP5F1A" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4" RELATED [MONDO:Lexical, OMIM:615228] synonym: "mitochondrial complex V (ATP synthase) deficiency, nuclear type 4; MC5DN4" RELATED [OMIM:615228] xref: DOID:0060333 {source="MONDO:equivalentTo"} @@ -274507,7 +278693,7 @@ xref: OMIM:615228 {source="DOID:0060333", source="MONDO:equivalentTo"} xref: Orphanet:254913 {source="OMIM:615228", source="DOID:0060333", source="MONDO:subClassOf"} xref: UMLS:C3808899 {source="NCBI:mim2gene_medline", source="OMIM:615228", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615228"} ! mitochondrial complex deficiency -is_a: MONDO:0014471 {source="MONDOLEX:0014091", source="ORDO:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency +is_a: MONDO:0014471 {source="DOID:0060333", source="MONDOLEX:0014091", source="ORDO:254913/btnt"} ! mitochondrial proton-transporting ATP synthase complex deficiency intersection_of: MONDO:0000066 ! mitochondrial complex deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/823 ! ATP5F1A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/823 {source="mim2gene_medgen"} ! ATP5F1A @@ -274538,8 +278724,10 @@ property_value: confidence "4.999999999999998" xsd:double id: MONDO:0014093 name: retinitis pigmentosa 66 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the RBP3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "RBP3 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 66" EXACT [MONDO:Lexical, OMIM:615233] synonym: "retinitis pigmentosa 66; RP66" RELATED [OMIM:615233] +synonym: "retinitis pigmentosa caused by mutation in RBP3" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 66" EXACT [DOID:0110393, MONDORULE:2, OMIM:615233] synonym: "RP66" EXACT [DOID:0110393, MONDO:Lexical, OMIM:615233] xref: DOID:0110393 {source="MONDO:equivalentTo"} @@ -274582,6 +278770,8 @@ synonym: "cardiomyopathy, dilated, 1JJ; CMD1JJ" RELATED [OMIM:615235] synonym: "cardiomyopathy, dilated, type 1Jj" EXACT [MONDORULE:9, OMIM:615235] synonym: "CMD1JJ" EXACT [DOID:0110438, MONDO:Lexical, OMIM:615235] synonym: "dilated cardiomyopathy type 1JJ" EXACT [DOID:0110438, MONDORULE:9] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in LAMA4" EXACT [MONDO:design_pattern] +synonym: "LAMA4 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110438 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110438", source="MONDO:subClassOf"} xref: OMIM:615235 {source="DOID:0110438", source="MONDO:equivalentTo"} @@ -274653,6 +278843,8 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0014099 name: nephrotic syndrome, type 8 def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the ARHGDIA gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ARHGDIA nephrotic syndrome" EXACT [MONDO:design_pattern] +synonym: "nephrotic syndrome caused by mutation in ARHGDIA" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 8" EXACT [MONDO:Lexical, OMIM:615244] synonym: "nephrotic syndrome, type 8; NPHS8" RELATED [OMIM:615244] synonym: "NPHS8" RELATED [MONDO:Lexical, OMIM:615244] @@ -274678,7 +278870,9 @@ synonym: "cardiomyopathy, dilated, type 1Kk" EXACT [MONDORULE:9, OMIM:615248] synonym: "cardiomyopathy, familial hypertrophic, 22" RELATED [OMIM:615248] synonym: "cardiomyopathy, familial restrictive, 4" RELATED [OMIM:615248] synonym: "CMD1KK" EXACT [DOID:0110445, MONDO:Lexical, OMIM:615248] +synonym: "dilated cardiomyopathy caused by mutation in MYPN" EXACT [MONDO:design_pattern] synonym: "dilated cardiomyopathy type 1KK" EXACT [DOID:0110445, MONDORULE:9] +synonym: "MYPN dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110445 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110445", source="MONDO:subClassOf"} xref: OMIM:615248 {source="DOID:0110445", source="MONDO:equivalentTo"} @@ -274702,6 +278896,8 @@ def: "Any muscular dystrophy-dystroglycanopathy, type A in which the cause of th synonym: "MDDGA12" RELATED [MONDO:Lexical, OMIM:615249] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 12" EXACT [MONDO:Lexical, OMIM:615249] synonym: "muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12; MDDGA12" RELATED [OMIM:615249] +synonym: "muscular dystrophy-dystroglycanopathy, type A caused by mutation in POMK" EXACT [MONDO:design_pattern] +synonym: "POMK muscular dystrophy-dystroglycanopathy, type A" EXACT [MONDO:design_pattern] synonym: "Walker-Warburg syndrome or muscle-eye-brain disease, POMK-Related" RELATED [OMIM:615249] xref: OMIM:615249 {source="MONDO:equivalentTo"} xref: Orphanet:899 {source="OMIM:615249", source="MONDO:subClassOf", source="MONDO:relatedTo"} @@ -274720,12 +278916,14 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m synonym: "HH17" RELATED [MONDO:Lexical, OMIM:615266] synonym: "hypogonadotropic hypogonadism 17 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615266] synonym: "hypogonadotropic hypogonadism 17 with or without anosmia; HH17" RELATED [OMIM:615266] +synonym: "hypogonadotropic hypogonadism caused by mutation in SPRY4" EXACT [MONDO:design_pattern] +synonym: "SPRY4 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] xref: DOID:0090079 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090079", source="MONDO:relatedTo"} xref: OMIM:615266 {source="DOID:0090079", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:615266"} xref: UMLS:C3808971 {source="NCBI:mim2gene_medline", source="OMIM:615266", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:Redundant", source="OMIM:615266"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090079", source="MONDO:Redundant", source="OMIM:615266"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15533 ! SPRY4 @@ -274739,12 +278937,14 @@ def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a m synonym: "HH18" RELATED [MONDO:Lexical, OMIM:615267] synonym: "hypogonadotropic hypogonadism 18 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615267] synonym: "hypogonadotropic hypogonadism 18 with or without anosmia; HH18" RELATED [OMIM:615267] +synonym: "hypogonadotropic hypogonadism caused by mutation in IL17RD" EXACT [MONDO:design_pattern] +synonym: "IL17RD hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] xref: DOID:0090076 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090076", source="MONDO:relatedTo"} xref: OMIM:615267 {source="DOID:0090076", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:615267"} xref: UMLS:C3808975 {source="NCBI:mim2gene_medline", source="OMIM:615267", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:Redundant", source="OMIM:615267"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090076", source="MONDO:Redundant", source="OMIM:615267"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17616 ! IL17RD @@ -274755,11 +278955,13 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0014104 name: cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 def: "Any dysequilibrium syndrome in which the cause of the disease is a mutation in the ATP8A2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ATP8A2 dysequilibrium syndrome" EXACT [MONDO:design_pattern] synonym: "CAMRQ4" RELATED [MONDO:Lexical, OMIM:615268] synonym: "cerebellar ataxia and mental retardation with or without quadrupedal locomotion 4" RELATED [OMIM:615268] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4" EXACT [MONDO:Lexical, OMIM:615268] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4; CAMRQ4" RELATED [OMIM:615268] synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4" EXACT [MONDORULE:1, OMIM:615268] +synonym: "dysequilibrium syndrome caused by mutation in ATP8A2" EXACT [MONDO:design_pattern] xref: OMIM:615268 {source="MONDO:equivalentTo"} xref: Orphanet:1766 {source="OMIM:615268", source="MONDO:subClassOf"} xref: UMLS:C3808977 {source="NCBI:mim2gene_medline", source="OMIM:615268", source="MONDO:equivalentTo"} @@ -274773,14 +278975,16 @@ property_value: confidence "1.7625263157894744" xsd:double id: MONDO:0014105 name: hypogonadotropic hypogonadism 19 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the DUSP6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DUSP6 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] synonym: "HH19" RELATED [MONDO:Lexical, OMIM:615269] synonym: "hypogonadotropic hypogonadism 19 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615269] synonym: "hypogonadotropic hypogonadism 19 with or without anosmia; HH19" RELATED [OMIM:615269] +synonym: "hypogonadotropic hypogonadism caused by mutation in DUSP6" EXACT [MONDO:design_pattern] xref: DOID:0090090 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="MONDO:relatedTo", source="DOID:0090090"} xref: OMIM:615269 {source="DOID:0090090", source="MONDO:equivalentTo"} xref: UMLS:C3808981 {source="OMIM:615269", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:Redundant", source="OMIM:615269"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090090", source="MONDO:Redundant", source="OMIM:615269"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3072 ! DUSP6 @@ -274791,14 +278995,16 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0014106 name: hypogonadotropic hypogonadism 20 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FGF17 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FGF17 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] synonym: "HH20" RELATED [MONDO:Lexical, OMIM:615270] synonym: "hypogonadotropic hypogonadism 20 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615270] synonym: "hypogonadotropic hypogonadism 20 with or without anosmia; HH20" RELATED [OMIM:615270] +synonym: "hypogonadotropic hypogonadism caused by mutation in FGF17" EXACT [MONDO:design_pattern] xref: DOID:0090082 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090082", source="MONDO:relatedTo"} xref: OMIM:615270 {source="DOID:0090082", source="MONDO:equivalentTo"} xref: UMLS:C3808983 {source="NCBI:mim2gene_medline", source="OMIM:615270", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:Redundant", source="OMIM:615270"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090082", source="MONDO:Redundant", source="OMIM:615270"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3673 ! FGF17 @@ -274809,15 +279015,17 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0014107 name: hypogonadotropic hypogonadism 21 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FLRT3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FLRT3 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] synonym: "HH21" RELATED [MONDO:Lexical, OMIM:615271] synonym: "hypogonadotropic hypogonadism 21 with or without anosmia" EXACT [MONDO:Lexical, OMIM:615271] synonym: "hypogonadotropic hypogonadism 21 with or without anosmia; HH21" RELATED [OMIM:615271] +synonym: "hypogonadotropic hypogonadism caused by mutation in FLRT3" EXACT [MONDO:design_pattern] xref: DOID:0090093 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090093", source="MONDO:relatedTo"} xref: OMIM:615271 {source="DOID:0090093", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:615271"} xref: UMLS:C3808986 {source="NCBI:mim2gene_medline", source="OMIM:615271", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:Redundant", source="OMIM:615271"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090093", source="MONDO:Redundant", source="OMIM:615271"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3762 ! FLRT3 @@ -274828,6 +279036,8 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0014108 name: Fanconi anemia complementation group Q def: "Any Fanconi anemia in which the cause of the disease is a mutation in the ERCC4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ERCC4 Fanconi anemia" EXACT [MONDO:design_pattern] +synonym: "Fanconi anemia caused by mutation in ERCC4" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type Q" EXACT [DOID:0111093, MONDORULE:1] synonym: "FANCONI ANEMIA, complementation group Q" RELATED [MONDO:Lexical, OMIM:615272] synonym: "FANCONI ANEMIA, complementation group Q; FANCQ" RELATED [OMIM:615272] @@ -274882,6 +279092,8 @@ def: "Any early-onset non-syndromic cataract in which the cause of the disease i synonym: "cataract 15, multiple types" RELATED [MONDO:Lexical, OMIM:615274] synonym: "cataract 15, multiple types; CTRCT15" RELATED [OMIM:615274] synonym: "CTRCT15" EXACT [DOID:0110251, MONDO:Lexical, OMIM:615274] +synonym: "early-onset non-syndromic cataract caused by mutation in MIP" EXACT [MONDO:design_pattern] +synonym: "MIP early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] xref: DOID:0110251 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110251"} xref: OMIM:615274 {source="DOID:0110251", source="MONDO:equivalentTo"} @@ -274893,7 +279105,7 @@ xref: Orphanet:98991 {source="OMIM:615274", source="MONDO:subClassOf", source="M xref: Orphanet:98994 {source="MONDO:directSiblingOf", source="OMIM:615274", source="MONDO:subClassOf"} xref: Orphanet:98995 {source="OMIM:615274", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: UMLS:C3809001 {source="NCBI:mim2gene_medline", source="OMIM:615274", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:615274"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110251", source="MONDO:Redundant", source="OMIM:615274"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7103 ! MIP @@ -274910,13 +279122,15 @@ synonym: "cataract 19, multiple types; CTRCT19" RELATED [OMIM:615277] synonym: "cataract 19; CTRCT19" RELATED [OMIM:615277] synonym: "cataract type 19" EXACT [MONDORULE:2, OMIM:615277] synonym: "CTRCT19" EXACT [DOID:0110263, MONDO:Lexical, OMIM:615277] +synonym: "early-onset non-syndromic cataract caused by mutation in LIM2" EXACT [MONDO:design_pattern] +synonym: "LIM2 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] xref: DOID:0110263 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110263"} xref: OMIM:615277 {source="DOID:0110263", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:615277"} xref: Orphanet:98984 {source="MONDO:directSiblingOf", source="MONDO:subClassOf", source="OMIM:615277"} xref: UMLS:C3809004 {source="NCBI:mim2gene_medline", source="OMIM:615277", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:615277"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110263", source="MONDO:Redundant", source="OMIM:615277"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6610 ! LIM2 @@ -274929,8 +279143,10 @@ name: cardiofaciocutaneous syndrome 2 def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the KRAS gene." [MONDO:patterns/disease_series_by_gene] synonym: "cardiofaciocutaneous syndrome 2" EXACT [MONDO:Lexical, OMIM:615278] synonym: "cardiofaciocutaneous syndrome 2; CFC2" RELATED [OMIM:615278] +synonym: "cardiofaciocutaneous syndrome caused by mutation in KRAS" EXACT [MONDO:design_pattern] synonym: "cardiofaciocutaneous syndrome type 2" EXACT [MONDORULE:1, OMIM:615278] synonym: "CFC2" RELATED [MONDO:Lexical, OMIM:615278] +synonym: "KRAS cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern] xref: OMIM:615278 {source="MONDO:equivalentTo"} xref: Orphanet:1340 {source="MONDO:subClassOf", source="OMIM:615278"} xref: UMLS:C3809005 {source="NCBI:mim2gene_medline", source="OMIM:615278", source="MONDO:equivalentTo"} @@ -274946,8 +279162,10 @@ name: cardiofaciocutaneous syndrome 3 def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cardiofaciocutaneous syndrome 3" EXACT [MONDO:Lexical, OMIM:615279] synonym: "cardiofaciocutaneous syndrome 3; CFC3" RELATED [OMIM:615279] +synonym: "cardiofaciocutaneous syndrome caused by mutation in MAP2K1" EXACT [MONDO:design_pattern] synonym: "cardiofaciocutaneous syndrome type 3" EXACT [MONDORULE:1, OMIM:615279] synonym: "CFC3" RELATED [MONDO:Lexical, OMIM:615279] +synonym: "MAP2K1 cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern] xref: OMIM:615279 {source="MONDO:equivalentTo"} xref: Orphanet:1340 {source="OMIM:615279", source="MONDO:subClassOf"} xref: UMLS:C3809006 {source="NCBI:mim2gene_medline", source="OMIM:615279", source="MONDO:equivalentTo"} @@ -274963,8 +279181,10 @@ name: cardiofaciocutaneous syndrome 4 def: "Any cardiofaciocutaneous syndrome in which the cause of the disease is a mutation in the MAP2K2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cardiofaciocutaneous syndrome 4" EXACT [MONDO:Lexical, OMIM:615280] synonym: "cardiofaciocutaneous syndrome 4; CFC4" RELATED [OMIM:615280] +synonym: "cardiofaciocutaneous syndrome caused by mutation in MAP2K2" EXACT [MONDO:design_pattern] synonym: "cardiofaciocutaneous syndrome type 4" EXACT [MONDORULE:1, OMIM:615280] synonym: "CFC4" RELATED [MONDO:Lexical, OMIM:615280] +synonym: "MAP2K2 cardiofaciocutaneous syndrome" EXACT [MONDO:design_pattern] xref: OMIM:615280 {source="MONDO:equivalentTo"} xref: Orphanet:1340 {source="OMIM:615280", source="MONDO:subClassOf"} xref: UMLS:C3809007 {source="NCBI:mim2gene_medline", source="OMIM:615280", source="MONDO:equivalentTo"} @@ -274995,10 +279215,12 @@ id: MONDO:0014116 name: complex cortical dysplasia with other brain malformations 2 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF5C gene." [MONDO:patterns/disease_series_by_gene] synonym: "CDCBM2" EXACT [DOID:0090133, MONDO:Lexical, OMIM:615282] +synonym: "complex cortical dysplasia with other brain malformations caused by mutation in KIF5C" EXACT [MONDO:design_pattern] synonym: "complex cortical dysplasia with other brain malformations type 2" EXACT [DOID:0090133, MONDORULE:1] synonym: "cortical dysplasia, complex, with other brain malformations 2" RELATED [MONDO:Lexical, OMIM:615282] synonym: "cortical dysplasia, complex, with other brain malformations 2; CDCBM2" RELATED [OMIM:615282] synonym: "cortical dysplasia, Complex, with Other brain malformations type 2" EXACT [MONDORULE:1, OMIM:615282] +synonym: "KIF5C complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern] xref: DOID:0090133 {source="MONDO:equivalentTo"} xref: OMIM:615282 {source="DOID:0090133", source="MONDO:equivalentTo"} xref: UMLS:C3809013 {source="NCBI:mim2gene_medline", source="OMIM:615282", source="MONDO:equivalentTo"} @@ -275013,16 +279235,18 @@ id: MONDO:0014117 name: Charcot-Marie-tooth disease type 4B3 def: "Charcot-Marie-Tooth disease type 4B3 (CMT4B3) is a subtype of Charcot-Marie-Tooth type 4 characterized by a childhood onset of slowly progressing, demyelinating sensorimotor neuropathy, focally folded myelin sheaths in nerve biopsy, reduced nerve conduction velocities (less than 38 m/s), and the typical CMT phenotype (i.e. distal muscle weakness and atrophy, and sensory loss)." [Orphanet:363981] subset: ordo_disease {source="Orphanet:363981"} +synonym: "Charcot-Marie-tooth disease type 4 caused by mutation in SBF1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease with focally folded myelin" EXACT [Orphanet:363981] synonym: "Charcot-Marie-Tooth disease, type 4B3" RELATED [MONDO:Lexical, OMIM:615284] synonym: "Charcot-Marie-Tooth disease, type 4B3; CMT4B3" RELATED [OMIM:615284] synonym: "CMT4B3" EXACT [DOID:0110194, MONDO:Lexical, OMIM:615284, Orphanet:363981] +synonym: "SBF1 Charcot-Marie-tooth disease type 4" EXACT [MONDO:design_pattern] xref: DOID:0110194 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="Orphanet:363981", source="ORDO:363981/ntbt", source="ORDO:363981/attributed", source="DOID:0110194"} xref: OMIM:615284 {source="ORDO:363981/e", source="Orphanet:363981", source="DOID:0110194", source="MONDO:equivalentTo"} xref: Orphanet:363981 {source="OMIM:615284", source="DOID:0110194", source="MONDO:equivalentTo"} xref: UMLS:C3695063 {source="NCBI:mim2gene_medline", source="OMIM:615284", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:615284", source="Orphanet:363981/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110194/inferred", source="MONDO:Redundant", source="OMIM:615284", source="Orphanet:363981/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018995 {source="DOID:0110194", source="Orphanet:363981"} ! Charcot-Marie-tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-tooth disease type 4 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10542 ! SBF1 @@ -275106,9 +279330,11 @@ id: MONDO:0014122 name: myofibromatosis, infantile, 2 def: "Any myofibromatosis in which the cause of the disease is a mutation in the NOTCH3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "IMF2" RELATED [MONDO:Lexical, OMIM:615293] +synonym: "myofibromatosis caused by mutation in NOTCH3" EXACT [MONDO:design_pattern] synonym: "myofibromatosis, infantile, 2" EXACT [MONDO:Lexical, OMIM:615293] synonym: "myofibromatosis, infantile, 2; IMF2" RELATED [OMIM:615293] synonym: "myofibromatosis, infantile, type 2" EXACT [MONDORULE:1, OMIM:615293] +synonym: "NOTCH3 myofibromatosis" EXACT [MONDO:design_pattern] xref: OMIM:615293 {source="MONDO:equivalentTo"} xref: Orphanet:2591 {source="MONDO:subClassOf", source="OMIM:615293"} xref: UMLS:C3809084 {source="NCBI:mim2gene_medline", source="OMIM:615293", source="MONDO:equivalentTo"} @@ -275127,7 +279353,9 @@ synonym: "ciliary dyskinesia, primary, 21" RELATED [MONDO:Lexical, OMIM:615294] synonym: "ciliary dyskinesia, primary, 21, without situs inversus" RELATED [OMIM:615294] synonym: "ciliary dyskinesia, primary, 21; CILD21" RELATED [OMIM:615294] synonym: "ciliary dyskinesia, primary, type 21" EXACT [MONDORULE:2, OMIM:615294] +synonym: "DRC1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 21 without situs inversus" EXACT [DOID:0110596] +synonym: "primary ciliary dyskinesia caused by mutation in DRC1" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 21" EXACT [DOID:0110596, MONDORULE:2] xref: DOID:0110596 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110596"} @@ -275144,8 +279372,10 @@ name: Adams-Oliver syndrome 4 def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the EOGT gene." [MONDO:patterns/disease_series_by_gene] synonym: "Adams-Oliver syndrome 4" EXACT [MONDO:Lexical, OMIM:615297] synonym: "Adams-Oliver syndrome 4; AOS4" RELATED [OMIM:615297] +synonym: "Adams-Oliver syndrome caused by mutation in EOGT" EXACT [MONDO:design_pattern] synonym: "Adams-Oliver syndrome type 4" EXACT [MONDORULE:1, OMIM:615297] synonym: "AOS4" RELATED [MONDO:Lexical, OMIM:615297] +synonym: "EOGT Adams-Oliver syndrome" EXACT [MONDO:design_pattern] xref: OMIM:615297 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="MONDO:subClassOf", source="OMIM:615297"} xref: UMLS:C3809092 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615297"} @@ -275176,8 +279406,10 @@ property_value: confidence "2.25" xsd:double id: MONDO:0014126 name: Perrault syndrome 4 def: "Any Perrault syndrome in which the cause of the disease is a mutation in the LARS2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "LARS2 Perrault syndrome" EXACT [MONDO:design_pattern] synonym: "Perrault syndrome 4" EXACT [MONDO:Lexical, OMIM:615300] synonym: "Perrault syndrome 4; PRLTS4" RELATED [OMIM:615300] +synonym: "Perrault syndrome caused by mutation in LARS2" EXACT [MONDO:design_pattern] synonym: "Perrault syndrome type 4" EXACT [MONDORULE:1, OMIM:615300] synonym: "PRLTS4" RELATED [MONDO:Lexical, OMIM:615300] xref: OMIM:615300 {source="MONDO:equivalentTo"} @@ -275215,8 +279447,10 @@ name: craniosynostosis 3 def: "Any craniosynostosis in which the cause of the disease is a mutation in the TCF12 gene." [MONDO:patterns/disease_series_by_gene] synonym: "craniosynostosis 3" EXACT [MONDO:Lexical, OMIM:615314] synonym: "craniosynostosis 3; CRS3" RELATED [OMIM:615314] +synonym: "craniosynostosis caused by mutation in TCF12" EXACT [MONDO:design_pattern] synonym: "craniosynostosis type 3" EXACT [MONDORULE:1, OMIM:615314] synonym: "CRS3" RELATED [MONDO:Lexical, OMIM:615314] +synonym: "TCF12 craniosynostosis" EXACT [MONDO:design_pattern] xref: OMIM:615314 {source="MONDO:equivalentTo"} xref: Orphanet:35098 {source="OMIM:615314", source="MONDO:subClassOf"} xref: Orphanet:35099 {source="OMIM:615314", source="MONDO:subClassOf"} @@ -275234,7 +279468,9 @@ id: MONDO:0014129 name: autosomal recessive limb-girdle muscular dystrophy type 2R def: "Autosomal recessive limb-girdle muscular dystrophy type 2R (LGMD2R) is a form of limb-girdle muscular dystrophy characterized by the adolescent or early adulthood-onset of progressive proximal muscle weakness and mild facial muscle weakness, with patients becoming wheelchair bound in their fourth to fifth decade of life. Mild, bilateral winged scapula, incomplete right bundle branch block, and a sinus rhythm with very rare ventricular extrasystoles have also been reported." [Orphanet:363543] subset: ordo_disease {source="Orphanet:363543"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in DES" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy due to desmin deficiency" EXACT [DOID:0110286, Orphanet:363543] +synonym: "DES autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "LGMD2R" EXACT [DOID:0110286, Orphanet:363543] synonym: "LGMD2R" RELATED [MONDO:Lexical, OMIM:615325] synonym: "muscular dystrophy, limb-girdle, type 2R" EXACT [DOID:0110286, MONDO:Lexical, OMIM:615325] @@ -275258,7 +279494,9 @@ def: "Any Dowling-Degos disease in which the cause of the disease is a mutation synonym: "DDD2" RELATED [MONDO:Lexical, OMIM:615327] synonym: "Dowling-Degos disease 2" EXACT [MONDO:Lexical, OMIM:615327] synonym: "Dowling-Degos disease 2; DDD2" RELATED [OMIM:615327] +synonym: "Dowling-Degos disease caused by mutation in POFUT1" EXACT [MONDO:design_pattern] synonym: "Dowling-Degos disease type 2" EXACT [MONDORULE:1, OMIM:615327] +synonym: "POFUT1 Dowling-Degos disease" EXACT [MONDO:design_pattern] xref: OMIM:615327 {source="MONDO:equivalentTo"} xref: Orphanet:79145 {source="OMIM:615327", source="MONDO:subClassOf"} xref: UMLS:C3809147 {source="NCBI:mim2gene_medline", source="OMIM:615327", source="MONDO:equivalentTo"} @@ -275291,7 +279529,9 @@ id: MONDO:0014132 name: multiple mitochondrial dysfunctions syndrome 3 def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the IBA57 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:363424"} +synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in IBA57" EXACT [MONDO:design_pattern] synonym: "IBA57 deficiency" EXACT [Orphanet:363424] +synonym: "IBA57 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern] synonym: "MMDS3" RELATED [MONDO:Lexical, OMIM:615330] synonym: "multiple mitochondrial dysfunctions syndrome 3" EXACT [MONDO:Lexical, OMIM:615330] synonym: "multiple mitochondrial dysfunctions syndrome 3; MMDS3" RELATED [OMIM:615330] @@ -275328,9 +279568,11 @@ id: MONDO:0014134 name: pulmonary hypertension, primary, 2 def: "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the SMAD9 gene." [MONDO:patterns/disease_series_by_gene] synonym: "PPH2" RELATED [MONDO:Lexical, OMIM:615342] +synonym: "primary pulmonary hypertension caused by mutation in SMAD9" EXACT [MONDO:design_pattern] synonym: "pulmonary hypertension, primary, 2" EXACT [MONDO:Lexical, OMIM:615342] synonym: "pulmonary hypertension, primary, 2; PPH2" RELATED [OMIM:615342] synonym: "pulmonary hypertension, primary, type 2" EXACT [MONDORULE:1, OMIM:615342] +synonym: "SMAD9 primary pulmonary hypertension" EXACT [MONDO:design_pattern] xref: OMIM:615342 {source="MONDO:equivalentTo"} xref: Orphanet:422 {source="MONDO:subClassOf", source="OMIM:615342"} xref: UMLS:C1423690 {source="OMIM:615342"} @@ -275346,7 +279588,9 @@ property_value: confidence "0.2864705882352938" xsd:double id: MONDO:0014135 name: pulmonary hypertension, primary, 3 def: "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the CAV1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CAV1 primary pulmonary hypertension" EXACT [MONDO:design_pattern] synonym: "PPH3" RELATED [MONDO:Lexical, OMIM:615343] +synonym: "primary pulmonary hypertension caused by mutation in CAV1" EXACT [MONDO:design_pattern] synonym: "pulmonary hypertension, primary, 3" EXACT [MONDO:Lexical, OMIM:615343] synonym: "pulmonary hypertension, primary, 3; PPH3" RELATED [OMIM:615343] synonym: "pulmonary hypertension, primary, type 3" EXACT [MONDORULE:1, OMIM:615343] @@ -275364,7 +279608,9 @@ property_value: confidence "0.2864705882352938" xsd:double id: MONDO:0014136 name: pulmonary hypertension, primary, 4 def: "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the KCNK3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KCNK3 primary pulmonary hypertension" EXACT [MONDO:design_pattern] synonym: "PPH4" RELATED [MONDO:Lexical, OMIM:615344] +synonym: "primary pulmonary hypertension caused by mutation in KCNK3" EXACT [MONDO:design_pattern] synonym: "pulmonary hypertension, primary, 4" EXACT [MONDO:Lexical, OMIM:615344] synonym: "pulmonary hypertension, primary, 4; PPH4" RELATED [OMIM:615344] synonym: "pulmonary hypertension, primary, type 4" EXACT [MONDORULE:1, OMIM:615344] @@ -275382,7 +279628,9 @@ property_value: confidence "0.2864705882352938" xsd:double id: MONDO:0014137 name: precocious puberty, central, 2 def: "Any central precocious puberty in which the cause of the disease is a mutation in the MKRN3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "central precocious puberty caused by mutation in MKRN3" EXACT [MONDO:design_pattern] synonym: "CPPB2" RELATED [MONDO:Lexical, OMIM:615346] +synonym: "MKRN3 central precocious puberty" EXACT [MONDO:design_pattern] synonym: "precocious puberty, central, 2" EXACT [MONDO:Lexical, OMIM:615346] synonym: "precocious puberty, central, 2; CPPB2" RELATED [OMIM:615346] synonym: "precocious puberty, central, type 2" EXACT [MONDORULE:1, OMIM:615346] @@ -275400,10 +279648,12 @@ property_value: confidence "29.999999999999957" xsd:double id: MONDO:0014138 name: nemaline myopathy 8 def: "An autosomal recessive myopathy caused by mutations in the KLHL40 gene, encoding Kelch-like protein 40. The phenotype is highly variable, and as such attempts at classification by clinical features is not optimal. Generally, affected individuals have generalized muscle weakness, and typically involves proximal muscles, the face, bulbar and respiratory muscles." [NCIT:C129871] +synonym: "KLHL40 nemaline myopathy" EXACT [MONDO:design_pattern] synonym: "NEM8" EXACT [DOID:0110930, MONDO:Lexical, OMIM:615348] synonym: "nemaline myopathy 8" EXACT [MONDO:Lexical, OMIM:615348] synonym: "nemaline myopathy 8, autosomal recessive" EXACT [DOID:0110930] synonym: "nemaline MYOPATHY 8; NEM8" RELATED [OMIM:615348] +synonym: "nemaline myopathy caused by mutation in KLHL40" EXACT [MONDO:design_pattern] synonym: "nemaline Myopathy type 8" EXACT [MONDORULE:1, OMIM:615348] synonym: "nemaline myopathy type 8" EXACT [DOID:0110930, MONDORULE:1] xref: DOID:0110930 {source="MONDO:equivalentTo"} @@ -275411,9 +279661,9 @@ xref: NCIT:C129871 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equiv xref: OMIM:615348 {source="DOID:0110930", source="MONDO:equivalentTo"} xref: Orphanet:607 {source="OMIM:615348", source="MONDO:subClassOf"} xref: UMLS:C3809209 {source="OMIM:615348", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="NCIT:C129871"} -is_a: MONDO:0005336 {source="MONDO:Redundant", source="NCIT:C129871"} ! myopathy +is_a: MONDO:0005336 {source="DOID:0110930/inferred", source="MONDO:Redundant", source="NCIT:C129871"} ! myopathy is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy -is_a: MONDO:0018958 {source="MONDO:Redundant", source="OMIM:615348"} ! nemaline myopathy +is_a: MONDO:0018958 {source="DOID:0110930", source="MONDO:Redundant", source="OMIM:615348"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30372 ! KLHL40 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30372 {source="mim2gene_medgen"} ! KLHL40 @@ -275423,8 +279673,10 @@ property_value: confidence "1.022727272727273" xsd:double id: MONDO:0014139 name: Ehlers-Danlos syndrome, progeroid type, 2 def: "Any Ehlers-Danlos syndrome progeroid type in which the cause of the disease is a mutation in the B3GALT6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "B3GALT6 Ehlers-Danlos syndrome progeroid type" EXACT [MONDO:design_pattern] synonym: "EDSP2" RELATED [MONDO:Lexical, OMIM:615349] synonym: "EDSSPD2" RELATED [OMIM:615349] +synonym: "Ehlers-Danlos syndrome progeroid type caused by mutation in B3GALT6" EXACT [MONDO:design_pattern] synonym: "Ehlers-Danlos syndrome, progeroid type, 2" EXACT [MONDO:Lexical, OMIM:615349] synonym: "Ehlers-Danlos syndrome, progeroid type, 2, formerly" RELATED [OMIM:615349] synonym: "Ehlers-Danlos syndrome, progeroid type, 2; EDSP2" RELATED [OMIM:615349] @@ -275473,6 +279725,8 @@ id: MONDO:0014142 name: autosomal recessive limb-girdle muscular dystrophy type 2T def: "Autosomal recessive limb-girdle muscular dystrophy type 2T (LGMD2T) is a form of limb-girdle muscular dystrophy, that can present from birth to early childhood, characterized by hypotonia, microcephaly, mild proximal muscle weakness (leading to delayed walking and difficulty climbing stairs), mild intellectual disability and epilepsy. Additional manifestations reported in some patients include cataracts, nystagmus, cardiomyopathy, and respiratory insufficiency." [Orphanet:363623] subset: ordo_disease {source="Orphanet:363623"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in GMPPB" EXACT [MONDO:design_pattern] +synonym: "GMPPB autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "LGMD2T" EXACT [DOID:0110294, Orphanet:363623] synonym: "limb-girdle muscular dystrophy type 2T" RELATED [GARD:0012544] synonym: "MDDGC14" EXACT [DOID:0110294, MONDO:Lexical, OMIM:615352] @@ -275505,8 +279759,10 @@ name: Noonan syndrome 8 def: "Any Noonan syndrome in which the cause of the disease is a mutation in the RIT1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Noonan syndrome 8" EXACT [MONDO:Lexical, OMIM:615355] synonym: "Noonan syndrome 8; NS8" RELATED [OMIM:615355] +synonym: "Noonan syndrome caused by mutation in RIT1" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome type 8" EXACT [DOID:0060586, MONDORULE:1, OMIM:615355] synonym: "NS8" EXACT [DOID:0060586, MONDO:Lexical, OMIM:615355] +synonym: "RIT1 Noonan syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060586 {source="MONDO:equivalentTo"} xref: OMIM:615355 {source="DOID:0060586", source="MONDO:equivalentTo"} xref: Orphanet:648 {source="MONDO:subClassOf", source="OMIM:615355"} @@ -275522,11 +279778,13 @@ id: MONDO:0014144 name: autosomal recessive limb-girdle muscular dystrophy type 2S def: "Autosomal recessive limb-girdle muscular dystrophy type 2S (LGMD2S) is a form of limb-girdle muscular dystrophy characterized by childhood-onset of progressive proximal muscle weakness (leading to reduced ambulation) with myalgia and fatigue, in addition to infantile hyperkinetic movements, truncal ataxia, and intellectual disability. Additional manifestations include scoliosis, hip dysplasia, and less commonly, ocular features (e.g. myopia, cataract) and seizures." [Orphanet:369840] subset: ordo_disease {source="Orphanet:369840"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TRAPPC11" EXACT [MONDO:design_pattern] synonym: "LGMD2S" EXACT [DOID:0110287, Orphanet:369840] synonym: "LGMD2S" RELATED [MONDO:Lexical, OMIM:615356] synonym: "limb-girdle muscular dystrophy type 2S" RELATED [GARD:0012543] synonym: "muscular dystrophy, limb-girdle, type 2S" EXACT [DOID:0110287, MONDO:Lexical, OMIM:615356] synonym: "muscular dystrophy, limb-girdle, type 2S; LGMD2S" RELATED [OMIM:615356] +synonym: "TRAPPC11 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110287 {source="MONDO:equivalentTo"} xref: GARD:0012543 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:G71.0 {source="DOID:0110287", source="Orphanet:369840", source="ORDO:369840/attributed", source="MONDO:subClassOf", source="ORDO:369840/ntbt"} @@ -275545,9 +279803,11 @@ property_value: confidence "0.0" xsd:double id: MONDO:0014145 name: Leber congenital amaurosis 17 def: "Any Leber congenital amaurosis in which the cause of the disease is a mutation in the GDF6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GDF6 Leber congenital amaurosis" EXACT [MONDO:design_pattern] synonym: "LCA17" EXACT [DOID:0110217, MONDO:Lexical, OMIM:615360] synonym: "Leber congenital amaurosis 17" EXACT [MONDO:Lexical, OMIM:615360] synonym: "Leber congenital amaurosis 17; LCA17" RELATED [OMIM:615360] +synonym: "Leber congenital amaurosis caused by mutation in GDF6" EXACT [MONDO:design_pattern] synonym: "Leber congenital amaurosis type 17" EXACT [DOID:0110217, MONDORULE:2, OMIM:615360] xref: DOID:0110217 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110217", source="MONDO:relatedTo"} @@ -275586,7 +279846,9 @@ synonym: "ceroid lipofuscinosis, neuronal, 13; CLN13" RELATED [OMIM:615362] synonym: "ceroid lipofuscinosis, neuronal, type 13" EXACT [MONDORULE:2, OMIM:615362] synonym: "CLN13" EXACT [DOID:0110727, MONDO:Lexical, OMIM:615362] synonym: "CLN13 disease" RELATED [Orphanet:352709] +synonym: "CTSF neuronal ceroid lipofuscinosis" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis 13 Kufs type" EXACT [DOID:0110727] +synonym: "neuronal ceroid lipofuscinosis caused by mutation in CTSF" EXACT [MONDO:design_pattern] synonym: "neuronal ceroid lipofuscinosis type 13" EXACT [DOID:0110727, MONDORULE:2] xref: DOID:0110727 {source="MONDO:equivalentTo"} xref: ICD10:E75.4 {source="ORDO:352709/ntbt", source="Orphanet:352709", source="MONDO:subClassOf", source="DOID:0110727", source="ORDO:352709/attributed"} @@ -275594,7 +279856,7 @@ xref: OMIM:615362 {source="ORDO:352709/e", source="Orphanet:352709", source="DOI xref: Orphanet:352709 {source="OMIM:615362", source="DOID:0110727", source="MONDO:equivalentTo"} xref: Orphanet:79262 {source="OMIM:615362", source="MONDO:subClassOf"} xref: UMLS:C3715049 {source="NCBI:mim2gene_medline", source="OMIM:615362", source="MONDO:equivalentTo"} -is_a: MONDO:0016295 {source="MONDO:Redundant", source="OMIM:615362", source="Orphanet:352709/inferred"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0016295 {source="DOID:0110727", source="MONDO:Redundant", source="OMIM:615362", source="Orphanet:352709/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0019260 {source="Orphanet:352709"} ! adult neuronal ceroid lipofuscinosis intersection_of: MONDO:0016295 ! neuronal ceroid lipofuscinosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2531 ! CTSF @@ -275619,7 +279881,7 @@ is_a: MONDO:0015513 {source="Orphanet:785"} ! rare genetic endocrine disease is_a: MONDO:0015860 {source="MONDO:Redundant", source="Orphanet:785"} ! anomaly of puberty or/and menstrual cycle is_a: MONDO:0016072 {source="MONDO:Entailed", source="Orphanet:785"} ! anomaly of puberty or/and menstrual cycle of genetic origin is_a: MONDO:0018397 {source="MONDO:Redundant", source="Orphanet:785"} ! rare female infertility due to hypothalamic-pituitary-gonadal axis disorder -is_a: MONDO:0018411 {source="MONDO:Entailed", source="Orphanet:785"} ! rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin +is_a: MONDO:0018411 {source="EFO:0009042", source="MONDO:Entailed", source="Orphanet:785"} ! rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3467 {source="mim2gene_medgen"} ! ESR1 property_value: confidence "3.0625" xsd:double @@ -275684,10 +279946,12 @@ name: left ventricular noncompaction 8 def: "Any familial isolated dilated cardiomyopathy in which the cause of the disease is a mutation in the PRDM16 gene." [MONDO:patterns/disease_series_by_gene] comment: This appears in the series 115200 because of an included entity. {source="OMIM:615373"} synonym: "cardiomyopathy, dilated, 1Ll" RELATED [OMIM:615373] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in PRDM16" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction 8" EXACT [MONDO:Lexical, OMIM:615373] synonym: "left ventricular noncompaction 8; LVNC8" RELATED [OMIM:615373] synonym: "left ventricular noncompaction type 8" EXACT [MONDORULE:1, OMIM:615373] synonym: "LVNC8" RELATED [MONDO:Lexical, OMIM:615373] +synonym: "PRDM16 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: OMIM:615373 {source="MONDO:equivalentTo"} xref: Orphanet:54260 {source="OMIM:615373", source="MONDO:subClassOf"} xref: UMLS:C3809288 {source="NCBI:mim2gene_medline", source="OMIM:615373", source="MONDO:equivalentTo"} @@ -275705,9 +279969,11 @@ name: cone-rod dystrophy 18 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the RAB28 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 18" EXACT [MONDO:Lexical, OMIM:615374] synonym: "cone-ROD dystrophy 18; CORD18" RELATED [OMIM:615374] +synonym: "cone-rod dystrophy caused by mutation in RAB28" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 18" EXACT [MONDORULE:2, OMIM:615374] synonym: "cone-rod dystrophy type 18" EXACT [DOID:0111024, MONDORULE:2] synonym: "CORD18" EXACT [DOID:0111024, MONDO:Lexical, OMIM:615374] +synonym: "RAB28 cone-rod dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0111024 {source="MONDO:equivalentTo"} xref: OMIM:615374 {source="DOID:0111024", source="MONDO:equivalentTo"} xref: Orphanet:1872 {source="MONDO:subClassOf", source="OMIM:615374"} @@ -275723,12 +279989,14 @@ name: Charcot-Marie-tooth disease recessive intermediate c def: "Autosomal recessive intermediate Charcot-Marie-Tooth disease type C is a rare subtype of autosomal recessive intermediate Charcot-Marie-Tooth (CMT) disease characterized by childhood to adulthood-onset of progressive, moderate to severe, predominantly distal, mostly lower limb muscle weakness and atrophy, foot deformities (including pes cavus and hammer toes), absent deep tendon reflexes and distal sensory loss associated with decreased motor and sensory nerve conduction velocities and features of both demyelinating and axonal neuropathy on sural nerve biopsy." [Orphanet:369867] subset: ordo_disease {source="Orphanet:369867"} synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type C" EXACT [DOID:0110198] +synonym: "Charcot-Marie-tooth disease caused by mutation in PLEKHG5" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease recessive intermediate type C" EXACT [DOID:0110198, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, recessive intermediate C" RELATED [MONDO:Lexical, OMIM:615376] synonym: "Charcot-Marie-Tooth disease, recessive intermediate C; CMTRIC" RELATED [OMIM:615376] synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type C" EXACT [MONDORULE:1, OMIM:615376] synonym: "Charcot-Marie-Tooth neuropathy, recessive Intermediate C" RELATED [OMIM:615376] synonym: "CMTRIC" EXACT [DOID:0110198, MONDO:Lexical, OMIM:615376] +synonym: "PLEKHG5 Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] synonym: "RI-CMT type C" EXACT [DOID:0110198, Orphanet:369867] synonym: "RI-CMTC" EXACT [DOID:0110198] xref: DOID:0110198 {source="MONDO:equivalentTo"} @@ -275736,7 +280004,7 @@ xref: ICD10:G60.0 {source="DOID:0110198", source="ORDO:369867/attributed", sourc xref: OMIM:615376 {source="DOID:0110198", source="ORDO:369867/e", source="MONDO:equivalentTo", source="Orphanet:369867"} xref: Orphanet:369867 {source="DOID:0110198", source="OMIM:615376", source="MONDO:equivalentTo"} xref: UMLS:C3809309 {source="NCBI:mim2gene_medline", source="OMIM:615376", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:615376", source="Orphanet:369867/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110198/inferred", source="MONDO:Redundant", source="OMIM:615376", source="Orphanet:369867/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0017058 {source="MONDOLEX:0014154", source="Orphanet:369867"} ! autosomal recessive intermediate Charcot-Marie-tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29105 ! PLEKHG5 @@ -275751,6 +280019,8 @@ synonym: "ATFB13" RELATED [MONDO:Lexical, OMIM:615377] synonym: "atrial fibrillation, familial, 13" EXACT [MONDO:Lexical, OMIM:615377] synonym: "atrial fibrillation, familial, 13; ATFB13" RELATED [OMIM:615377] synonym: "atrial fibrillation, familial, type 13" EXACT [MONDORULE:2, OMIM:615377] +synonym: "familial atrial fibrillation caused by mutation in SCN1B" EXACT [MONDO:design_pattern] +synonym: "SCN1B familial atrial fibrillation" EXACT [MONDO:design_pattern] xref: OMIM:615377 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="MONDO:subClassOf", source="OMIM:615377"} xref: UMLS:C3809311 {source="NCBI:mim2gene_medline", source="OMIM:615377", source="MONDO:equivalentTo"} @@ -275767,6 +280037,8 @@ synonym: "ATFB14" RELATED [MONDO:Lexical, OMIM:615378] synonym: "atrial fibrillation, familial, 14" EXACT [MONDO:Lexical, OMIM:615378] synonym: "atrial fibrillation, familial, 14; ATFB14" RELATED [OMIM:615378] synonym: "atrial fibrillation, familial, type 14" EXACT [MONDORULE:2, OMIM:615378] +synonym: "familial atrial fibrillation caused by mutation in SCN2B" EXACT [MONDO:design_pattern] +synonym: "SCN2B familial atrial fibrillation" EXACT [MONDO:design_pattern] xref: OMIM:615378 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="OMIM:615378", source="MONDO:subClassOf"} xref: UMLS:C3809312 {source="NCBI:mim2gene_medline", source="OMIM:615378", source="MONDO:equivalentTo"} @@ -275815,7 +280087,7 @@ xref: Orphanet:655 {source="OMIM:615382", source="MONDO:subClassOf"} xref: Orphanet:93591 {source="MONDO:equivalentTo"} xref: SCTID:444558002 {source="MONDO:equivalentTo"} xref: UMLS:C3809320 {source="NCBI:mim2gene_medline", source="OMIM:615382", source="MONDO:equivalentTo"} -is_a: MONDO:0019005 {source="OMIM:615382", source="Orphanet:93591"} ! nephronophthisis (disease) +is_a: MONDO:0019005 {source="DOID:0111124", source="OMIM:615382", source="Orphanet:93591"} ! nephronophthisis (disease) intersection_of: MONDO:0019005 ! nephronophthisis (disease) intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26724 ! ANKS6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26724 {source="mim2gene_medgen"} ! ANKS6 @@ -275827,6 +280099,7 @@ name: autosomal recessive spinocerebellar ataxia 14 def: "Spectrin-associated autosomal recessive cerebellar ataxia is a rare, genetic neurological disease, due to SPTBN2 mutations, characterized by global development delay in infancy, followed by childhood-onset gait ataxia with limb dysmetria and dysdiadochokinesia, mild to severe intellectual disability, development of cerebellar atrophy, and abnormal eye movements (including a convergent squint, hypometric saccades, jerky pursuit movements and incomplete range of movement)." [Orphanet:352403] subset: ordo_disease {source="Orphanet:352403"} synonym: "Ataxie spinocérébelleuse à début infantile avec retard psychomoteur" EXACT [Orphanet:352403] +synonym: "autosomal recessive cerebellar ataxia caused by mutation in SPTBN2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive cerebellar ataxia-cognitive defect syndrome" EXACT [Orphanet:352403] synonym: "autosomal recessive spinocerebellar ataxia type 14" EXACT [DOID:0080058, MONDORULE:2, Orphanet:352403] synonym: "cerebellar ataxia, autosomal recessive, spectrin-associated, 1" RELATED [OMIM:615386] @@ -275839,6 +280112,7 @@ synonym: "spectrin-associated autosomal recessive cerebellar ataxia type 1" EXAC synonym: "spinocerebellar ataxia, autosomal recessive 14" RELATED [MONDO:Lexical, OMIM:615386] synonym: "spinocerebellar ataxia, autosomal recessive 14; SCAR14" RELATED [OMIM:615386] synonym: "spinocerebellar ataxia, autosomal recessive type 14" EXACT [MONDORULE:2, OMIM:615386] +synonym: "SPTBN2 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern] xref: DOID:0080058 {source="MONDO:equivalentTo"} xref: ICD10:G11.1 {source="ORDO:352403/attributed", source="Orphanet:352403", source="ORDO:352403/ntbt"} xref: OMIM:615386 {source="DOID:0080058", source="Orphanet:352403", source="ORDO:352403/e", source="MONDO:equivalentTo"} @@ -275887,8 +280161,10 @@ subset: ordo_disease {source="Orphanet:352563"} synonym: "combined oxidative phosphorylation defect type 16" EXACT [Orphanet:352563] synonym: "combined oxidative phosphorylation deficiency 16" RELATED [MONDO:Lexical, OMIM:615395] synonym: "combined oxidative phosphorylation deficiency 16; COXPD16" RELATED [OMIM:615395] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in MRPL44" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 16" EXACT [MONDORULE:2, OMIM:615395] synonym: "COXPD16" EXACT [MONDO:Lexical, OMIM:615395, Orphanet:352563] +synonym: "MRPL44 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: GARD:0012892 {source="Orphanet-shared", source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:I42.2 {source="ORDO:352563/ntbt", source="ORDO:352563/attributed", source="Orphanet:352563"} xref: OMIM:615395 {source="Orphanet:352563", source="MONDO:equivalentTo", source="ORDO:352563/e"} @@ -275897,6 +280173,8 @@ xref: UMLS:C3809339 {source="NCBI:mim2gene_medline", source="OMIM:615395", sourc is_a: MONDO:0000732 {source="DC-OMIM:615395", source="OMIM:615395"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016327 {source="Orphanet:352563"} ! mitochondrial disease with hypertrophic cardiomyopathy is_a: MONDO:0018157 {source="Orphanet:352563"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis +intersection_of: MONDO:0000732 {source="mim2gene_medgen"} ! combined oxidative phosphorylation deficiency +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16650 {source="mim2gene_medgen"} ! MRPL44 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16650 {source="mim2gene_medgen"} ! MRPL44 property_value: confidence "2.846153846153847" xsd:double @@ -275907,8 +280185,10 @@ def: "Any left ventricular noncompaction in which the cause of the disease is a synonym: "cardiomyopathy, dilated, 1Mm" RELATED [OMIM:615396] synonym: "left ventricular noncompaction 10" EXACT [MONDO:Lexical, OMIM:615396] synonym: "left ventricular noncompaction 10; LVNC10" RELATED [OMIM:615396] +synonym: "left ventricular noncompaction caused by mutation in MYBPC3" EXACT [MONDO:design_pattern] synonym: "left ventricular noncompaction type 10" EXACT [MONDORULE:2, OMIM:615396] synonym: "LVNC10" RELATED [MONDO:Lexical, OMIM:615396] +synonym: "MYBPC3 left ventricular noncompaction" EXACT [MONDO:design_pattern] xref: OMIM:615396 {source="MONDO:equivalentTo"} xref: Orphanet:154 {source="MONDO:subClassOf", source="OMIM:615396"} xref: Orphanet:54260 {source="MONDO:subClassOf", source="OMIM:615396"} @@ -275925,9 +280205,11 @@ property_value: confidence "0.19999999999999973" xsd:double id: MONDO:0014164 name: Meckel syndrome, type 11 def: "Any Meckel syndrome in which the cause of the disease is a mutation in the TMEM231 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Meckel syndrome caused by mutation in TMEM231" EXACT [MONDO:design_pattern] synonym: "Meckel syndrome, type 11" EXACT [MONDO:Lexical, OMIM:615397] synonym: "MECKEL syndrome, type 11; MKS11" RELATED [OMIM:615397] synonym: "MKS11" RELATED [MONDO:Lexical, OMIM:615397] +synonym: "TMEM231 Meckel syndrome" EXACT [MONDO:design_pattern] xref: OMIM:615397 {source="MONDO:equivalentTo"} xref: Orphanet:564 {source="MONDO:subClassOf", source="OMIM:615397"} xref: UMLS:C3809352 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615397"} @@ -275950,6 +280232,8 @@ synonym: "MCAHS3" RELATED [MONDO:Lexical, OMIM:615398] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 3" EXACT [MONDO:Lexical, OMIM:615398] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome 3; MCAHS3" RELATED [OMIM:615398] synonym: "multiple congenital anomalies-hypotonia-seizures syndrome type 3" EXACT [DOID:0080140, MONDORULE:1, OMIM:615398] +synonym: "multiple congenital anomalies/dysmorphic syndrome-intellectual disability caused by mutation in PIGT" EXACT [MONDO:design_pattern] +synonym: "PIGT multiple congenital anomalies/dysmorphic syndrome-intellectual disability" EXACT [MONDO:design_pattern] synonym: "PIGT-CDG" EXACT [Orphanet:369837] xref: DOID:0080140 {source="MONDO:equivalentTo"} xref: ICD10:Q87.8 {source="ORDO:369837/ntbt", source="Orphanet:369837", source="ORDO:369837/attributed"} @@ -275973,7 +280257,9 @@ name: paroxysmal nocturnal hemoglobinuria 2 def: "Any paroxysmal nocturnal hemoglobinuria in which the cause of the disease is a mutation in the PIGT gene." [MONDO:patterns/disease_series_by_gene] synonym: "paroxysmal nocturnal hemoglobinuria 2" EXACT [MONDO:Lexical, OMIM:615399] synonym: "paroxysmal nocturnal hemoglobinuria 2; PNH2" RELATED [OMIM:615399] +synonym: "paroxysmal nocturnal hemoglobinuria caused by mutation in PIGT" EXACT [MONDO:design_pattern] synonym: "paroxysmal nocturnal hemoglobinuria type 2" EXACT [MONDORULE:1, OMIM:615399] +synonym: "PIGT paroxysmal nocturnal hemoglobinuria" EXACT [MONDO:design_pattern] synonym: "PNH2" RELATED [MONDO:Lexical, OMIM:615399] xref: OMIM:615399 {source="MONDO:equivalentTo"} xref: Orphanet:447 {source="MONDO:subClassOf", source="OMIM:615399"} @@ -275988,7 +280274,9 @@ property_value: confidence "2.0774214447683836" xsd:double id: MONDO:0014167 name: epilepsy, familial adult myoclonic, 5 def: "Any epilepsy, familial adult myoclonic in which the cause of the disease is a mutation in the CNTN2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CNTN2 epilepsy, familial adult myoclonic" EXACT [MONDO:design_pattern] synonym: "cortical myoclonic tremor with epilepsy, familial, 5" RELATED [OMIM:615400] +synonym: "epilepsy, familial adult myoclonic caused by mutation in CNTN2" EXACT [MONDO:design_pattern] synonym: "epilepsy, familial adult myoclonic, 5" EXACT [MONDO:Lexical, OMIM:615400] synonym: "epilepsy, familial ADULT myoclonic, 5; FAME5" RELATED [OMIM:615400] synonym: "epilepsy, familial adult myoclonic, type 5" EXACT [MONDORULE:1, OMIM:615400] @@ -276029,9 +280317,11 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014169 name: dyschromatosis universalis hereditaria 3 def: "Any dyschromatosis universalis hereditaria in which the cause of the disease is a mutation in the ABCB6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ABCB6 dyschromatosis universalis hereditaria" EXACT [MONDO:design_pattern] synonym: "DUH3" RELATED [MONDO:Lexical, OMIM:615402] synonym: "dyschromatosis universalis hereditaria 3" EXACT [MONDO:Lexical, OMIM:615402] synonym: "dyschromatosis universalis hereditaria 3; DUH3" RELATED [OMIM:615402] +synonym: "dyschromatosis universalis hereditaria caused by mutation in ABCB6" EXACT [MONDO:design_pattern] synonym: "dyschromatosis universalis hereditaria type 3" EXACT [MONDORULE:1, OMIM:615402] xref: OMIM:615402 {source="MONDO:equivalentTo"} xref: Orphanet:241 {source="OMIM:615402", source="MONDO:subClassOf"} @@ -276047,10 +280337,12 @@ id: MONDO:0014170 name: complex cortical dysplasia with other brain malformations 3 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the KIF2A gene." [MONDO:patterns/disease_series_by_gene] synonym: "CDCBM3" EXACT [DOID:0090134, MONDO:Lexical, OMIM:615411] +synonym: "complex cortical dysplasia with other brain malformations caused by mutation in KIF2A" EXACT [MONDO:design_pattern] synonym: "complex cortical dysplasia with other brain malformations type 3" EXACT [DOID:0090134, MONDORULE:1] synonym: "cortical dysplasia, complex, with other brain malformations 3" RELATED [MONDO:Lexical, OMIM:615411] synonym: "cortical dysplasia, complex, with other brain malformations 3; CDCBM3" RELATED [OMIM:615411] synonym: "cortical dysplasia, Complex, with Other brain malformations type 3" EXACT [MONDORULE:1, OMIM:615411] +synonym: "KIF2A complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern] xref: DOID:0090134 {source="MONDO:equivalentTo"} xref: OMIM:615411 {source="DOID:0090134", source="MONDO:equivalentTo"} xref: UMLS:C3809414 {source="NCBI:mim2gene_medline", source="OMIM:615411", source="MONDO:equivalentTo"} @@ -276065,10 +280357,12 @@ id: MONDO:0014171 name: complex cortical dysplasia with other brain malformations 4 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBG1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CDCBM4" EXACT [DOID:0090138, MONDO:Lexical, OMIM:615412] +synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBG1" EXACT [MONDO:design_pattern] synonym: "complex cortical dysplasia with other brain malformations type 4" EXACT [DOID:0090138, MONDORULE:1] synonym: "cortical dysplasia, complex, with other brain malformations 4" RELATED [MONDO:Lexical, OMIM:615412] synonym: "cortical dysplasia, complex, with other brain malformations 4; CDCBM4" RELATED [OMIM:615412] synonym: "cortical dysplasia, Complex, with Other brain malformations type 4" EXACT [MONDORULE:1, OMIM:615412] +synonym: "TUBG1 complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern] xref: DOID:0090138 {source="MONDO:equivalentTo"} xref: OMIM:615412 {source="DOID:0090138", source="MONDO:equivalentTo"} xref: UMLS:C3809420 {source="OMIM:615412", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -276082,6 +280376,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12 id: MONDO:0014172 name: spermatogenic failure 12 def: "Any azoospermia in which the cause of the disease is a mutation in the NANOS1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "azoospermia caused by mutation in NANOS1" EXACT [MONDO:design_pattern] +synonym: "NANOS1 azoospermia" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 12" EXACT [MONDO:Lexical, OMIM:615413] synonym: "spermatogenic failure 12; SPGF12" RELATED [OMIM:615413] synonym: "spermatogenic failure type 12" EXACT [MONDORULE:2, OMIM:615413] @@ -276102,9 +280398,11 @@ property_value: confidence "0.18928571428571428" xsd:double id: MONDO:0014173 name: microcephaly 11, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the PHC1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive primary microcephaly caused by mutation in PHC1" EXACT [MONDO:design_pattern] synonym: "MCPH11" RELATED [MONDO:Lexical, OMIM:615414] synonym: "microcephaly 11, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:615414] synonym: "microcephaly 11, primary, autosomal recessive; MCPH11" RELATED [OMIM:615414] +synonym: "PHC1 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern] xref: OMIM:615414 {source="MONDO:equivalentTo"} xref: UMLS:C3809431 {source="OMIM:615414", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016660 {source="DC-OMIM:615414", source="OMIM:615414"} ! autosomal recessive primary microcephaly @@ -276117,8 +280415,10 @@ property_value: confidence "0.5073248878127503" xsd:double id: MONDO:0014174 name: renal-hepatic-pancreatic dysplasia 2 def: "Any renal-hepatic-pancreatic dysplasia in which the cause of the disease is a mutation in the NEK8 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "NEK8 renal-hepatic-pancreatic dysplasia" EXACT [MONDO:design_pattern] synonym: "renal-hepatic-pancreatic dysplasia 2" EXACT [MONDO:Lexical, OMIM:615415] synonym: "renal-hepatic-pancreatic dysplasia 2; RHPD2" RELATED [OMIM:615415] +synonym: "renal-hepatic-pancreatic dysplasia caused by mutation in NEK8" EXACT [MONDO:design_pattern] synonym: "renal-hepatic-pancreatic dysplasia type 2" EXACT [MONDORULE:1, OMIM:615415] synonym: "RHPD2" RELATED [MONDO:Lexical, OMIM:615415] xref: OMIM:615415 {source="MONDO:equivalentTo"} @@ -276181,10 +280481,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26 id: MONDO:0014178 name: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2 def: "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA2B1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HNRNPA2B1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia" EXACT [MONDO:design_pattern] synonym: "IBMPFD2" RELATED [MONDO:Lexical, OMIM:615422] synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2" EXACT [MONDO:Lexical, OMIM:615422] synonym: "inclusion body MYOPATHY with early-onset Paget disease with or without frontotemporal dementia 2; IBMPFD2" RELATED [OMIM:615422] synonym: "inclusion body Myopathy with early-onset Paget disease with or without frontotemporal dementia type 2" EXACT [MONDORULE:1, OMIM:615422] +synonym: "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA2B1" EXACT [MONDO:design_pattern] synonym: "multisystem Proteinopathy 2" RELATED [OMIM:615422] xref: OMIM:615422 {source="MONDO:equivalentTo"} xref: Orphanet:52430 {source="OMIM:615422", source="MONDO:subClassOf"} @@ -276198,10 +280500,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/50 id: MONDO:0014179 name: inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3 def: "Any inclusion body myopathy with Paget disease of bone and frontotemporal dementia in which the cause of the disease is a mutation in the HNRNPA1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HNRNPA1 inclusion body myopathy with Paget disease of bone and frontotemporal dementia" EXACT [MONDO:design_pattern] synonym: "IBMPFD3" RELATED [MONDO:Lexical, OMIM:615424] synonym: "inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 3" EXACT [MONDO:Lexical, OMIM:615424] synonym: "inclusion body MYOPATHY with early-onset Paget disease with or without frontotemporal dementia 3; IBMPFD3" RELATED [OMIM:615424] synonym: "inclusion body Myopathy with early-onset Paget disease with or without frontotemporal dementia type 3" EXACT [MONDORULE:1, OMIM:615424] +synonym: "inclusion body myopathy with Paget disease of bone and frontotemporal dementia caused by mutation in HNRNPA1" EXACT [MONDO:design_pattern] synonym: "multisystem Proteinopathy 3" RELATED [OMIM:615424] xref: OMIM:615424 {source="MONDO:equivalentTo"} xref: Orphanet:52430 {source="OMIM:615424", source="MONDO:subClassOf"} @@ -276237,12 +280541,14 @@ synonym: "ALS20" EXACT [DOID:0060211, OMIM:615426] synonym: "ALS20" RELATED [MONDO:Lexical, OMIM:615426] synonym: "amyotrophic lateral sclerosis 20" EXACT [DOID:0060211, MONDO:Lexical, OMIM:615426] synonym: "amyotrophic lateral sclerosis 20; ALS20" RELATED [OMIM:615426] +synonym: "amyotrophic lateral sclerosis caused by mutation in HNRNPA1" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 20" EXACT [MONDORULE:2, OMIM:615426] +synonym: "HNRNPA1 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0060211 {source="MONDO:equivalentTo"} xref: OMIM:615426 {source="DOID:0060211", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:615426", source="MONDO:subClassOf"} xref: UMLS:C3715156 {source="NCBI:mim2gene_medline", source="OMIM:615426", source="MONDO:equivalentTo"} -is_a: MONDO:0004976 {source="MONDO:Redundant", source="OMIM:615426"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0060211", source="MONDO:Redundant", source="OMIM:615426"} ! amyotrophic lateral sclerosis is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5031 ! HNRNPA1 @@ -276254,11 +280560,13 @@ id: MONDO:0014182 name: autosomal recessive nonsyndromic deafness 88 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the ELMOD3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 88" EXACT [DOID:0110533] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in ELMOD3" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 88" EXACT [DOID:0110533, MONDORULE:2] synonym: "deafness, autosomal recessive 88" RELATED [MONDO:Lexical, OMIM:615429] synonym: "deafness, autosomal recessive 88; DFNB88" RELATED [OMIM:615429] synonym: "deafness, autosomal recessive type 88" EXACT [MONDORULE:2, OMIM:615429] synonym: "DFNB88" EXACT [DOID:0110533, MONDO:Lexical, OMIM:615429] +synonym: "ELMOD3 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110533 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110533"} xref: OMIM:615429 {source="DOID:0110533", source="MONDO:equivalentTo"} @@ -276326,6 +280634,8 @@ property_value: confidence "13.000000000000021" xsd:double id: MONDO:0014186 name: retinitis pigmentosa with or without situs inversus def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ARL2BP gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ARL2BP retinitis pigmentosa" EXACT [MONDO:design_pattern] +synonym: "retinitis pigmentosa caused by mutation in ARL2BP" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa with or without situs inversus" EXACT [OMIM:615434] xref: DOID:0110419 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="MONDO:relatedTo", source="DOID:0110419"} @@ -276344,6 +280654,8 @@ synonym: "AAT8" RELATED [MONDO:Lexical, OMIM:615436] synonym: "aortic aneurysm, familial thoracic 8" EXACT [MONDO:Lexical, OMIM:615436] synonym: "aortic aneurysm, familial thoracic 8; AAT8" RELATED [OMIM:615436] synonym: "aortic aneurysm, familial thoracic type 8" EXACT [MONDORULE:1, OMIM:615436] +synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in PRKG1" EXACT [MONDO:design_pattern] +synonym: "PRKG1 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern] xref: OMIM:615436 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="OMIM:615436", source="MONDO:subClassOf"} xref: UMLS:C3809513 {source="OMIM:615436", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -276359,7 +280671,9 @@ id: MONDO:0014189 name: age related macular degeneration 13 def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the CFI gene." [MONDO:patterns/disease_series_by_gene] synonym: "age related macular degeneration type 13" EXACT [DOID:0110025, MONDORULE:2] +synonym: "age-related macular degeneration caused by mutation in CFI" EXACT [MONDO:design_pattern] synonym: "ARMD13" EXACT [DOID:0110025, MONDO:Lexical, OMIM:615439] +synonym: "CFI age-related macular degeneration" EXACT [MONDO:design_pattern] synonym: "macular DEGENERATION, AGE-RELATED, 13" RELATED [MONDO:Lexical, OMIM:615439] synonym: "macular DEGENERATION, AGE-RELATED, 13; ARMD13" RELATED [OMIM:615439] synonym: "macular Degeneration, Age-Related, type 13" EXACT [MONDORULE:2, OMIM:615439] @@ -276381,8 +280695,10 @@ subset: clingen subset: ordo_disease {source="Orphanet:369913"} synonym: "combined oxidative phosphorylation deficiency 17" RELATED [MONDO:Lexical, OMIM:615440] synonym: "combined oxidative phosphorylation deficiency 17; COXPD17" RELATED [OMIM:615440] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in ELAC2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 17" EXACT [MONDORULE:2, OMIM:615440] synonym: "COXPD17" EXACT [MONDO:Lexical, OMIM:615440, Orphanet:369913] +synonym: "ELAC2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: ICD10:E88.8 {source="ORDO:369913/ntbt", source="ORDO:369913/attributed", source="Orphanet:369913"} xref: OMIM:615440 {source="Orphanet:369913", source="MONDO:equivalentTo", source="ORDO:369913/e"} xref: Orphanet:369913 {source="MONDO:equivalentTo", source="OMIM:615440"} @@ -276399,9 +280715,11 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0014191 name: catecholaminergic polymorphic ventricular tachycardia 5 def: "Any catecholaminergic polymorphic ventricular tachycardia in which the cause of the disease is a mutation in the TRDN gene." [MONDO:patterns/disease_series_by_gene] +synonym: "catecholaminergic polymorphic ventricular tachycardia caused by mutation in TRDN" EXACT [MONDO:design_pattern] synonym: "catecholaminergic polymorphic ventricular tachycardia type 5" EXACT [DOID:0060679, MONDORULE:1] synonym: "CPVT5" RELATED [MONDO:Lexical, OMIM:615441] synonym: "CVPT5" EXACT [DOID:0060679] +synonym: "TRDN catecholaminergic polymorphic ventricular tachycardia" EXACT [MONDO:design_pattern] synonym: "ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness" RELATED [MONDO:Lexical, OMIM:615441] synonym: "ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness; CPVT5" RELATED [OMIM:615441] xref: DOID:0060679 {source="MONDO:equivalentTo"} @@ -276424,7 +280742,9 @@ synonym: "ciliary dyskinesia, primary, 22, with or without situs inversus" RELAT synonym: "ciliary dyskinesia, primary, 22; CILD22" RELATED [OMIM:615444] synonym: "ciliary dyskinesia, primary, type 22" EXACT [MONDORULE:2, OMIM:615444] synonym: "primary ciliary dyskinesia 22 with or without situs inversus" EXACT [DOID:0110597] +synonym: "primary ciliary dyskinesia caused by mutation in ZMYND10" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 22" EXACT [DOID:0110597, MONDORULE:2] +synonym: "ZMYND10 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] xref: DOID:0110597 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110597"} xref: OMIM:615444 {source="DOID:0110597", source="MONDO:equivalentTo"} @@ -276438,12 +280758,14 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19 id: MONDO:0014193 name: primary ciliary dyskinesia 23 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the ARMC4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ARMC4 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "CILD23" EXACT [DOID:0110609, MONDO:Lexical, OMIM:615451] synonym: "ciliary dyskinesia, primary, 23" RELATED [MONDO:Lexical, OMIM:615451] synonym: "ciliary dyskinesia, primary, 23, with or without situs inversus" RELATED [OMIM:615451] synonym: "ciliary dyskinesia, primary, 23; CILD23" RELATED [OMIM:615451] synonym: "ciliary dyskinesia, primary, type 23" EXACT [MONDORULE:2, OMIM:615451] synonym: "primary ciliary dyskinesia 23 with or without situs inversus" EXACT [DOID:0110609] +synonym: "primary ciliary dyskinesia caused by mutation in ARMC4" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 23" EXACT [DOID:0110609, MONDORULE:2] xref: DOID:0110609 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110609"} @@ -276459,8 +280781,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25 id: MONDO:0014194 name: mitochondrial complex III deficiency nuclear type 6 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the CYC1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CYC1 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern] synonym: "MC3DN6" RELATED [MONDO:Lexical, OMIM:615453] synonym: "mitochondrial Complex 3 deficiency, nuclear type 6" RELATED [OMIM:615453] +synonym: "mitochondrial complex III deficiency caused by mutation in CYC1" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 6" RELATED [MONDO:Lexical, OMIM:615453] synonym: "mitochondrial complex III deficiency, nuclear type 6; MC3DN6" RELATED [OMIM:615453] xref: DOID:0080115 {source="MONDO:equivalentTo"} @@ -276468,7 +280792,7 @@ xref: OMIM:615453 {source="DOID:0080115", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="MONDO:subClassOf", source="OMIM:615453"} xref: UMLS:C3809553 {source="NCBI:mim2gene_medline", source="OMIM:615453", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615453"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080115", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2579 ! CYC1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2579 {source="mim2gene_medgen"} ! CYC1 @@ -276486,7 +280810,7 @@ xref: ICD10:Q15.8 {source="ORDO:369970/attributed", source="ORDO:369970/ntbt", s xref: OMIM:615458 {source="ORDO:369970/e", source="Orphanet:369970", source="MONDO:equivalentTo"} xref: Orphanet:369970 {source="OMIM:615458", source="MONDO:equivalentTo"} xref: UMLS:C3809567 {source="OMIM:615458", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019118 {source="Orphanet:369970"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:369970"} ! inherited retinal dystrophy is_a: MONDO:0020145 {source="Orphanet:369970"} ! developmental defect of the eye relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17110 {source="mim2gene_medgen"} ! ADAMTS18 property_value: confidence "2.846153846153847" xsd:double @@ -276539,9 +280863,11 @@ subset: ordo_disease {source="Orphanet:369897"} synonym: "BXL4-Related early-onset mitochondrial encephalopathy" RELATED [GARD:0013298] synonym: "encephalomyopathic mitochondrial DNA depletion syndrome-13" RELATED [GARD:0013298] synonym: "FBXL4 deficiency" RELATED [GARD:0013298] +synonym: "FBXL4 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern] synonym: "FBXL4-related encephalomyopathic mitochondrial DNA depletion syndrome" RELATED [GARD:0013298] synonym: "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type)" RELATED [MONDO:Lexical, OMIM:615471] synonym: "mitochondrial DNA depletion syndrome 13 (encephalomyopathic type); MTDPS13" RELATED [OMIM:615471] +synonym: "mitochondrial DNA depletion syndrome caused by mutation in FBXL4" EXACT [MONDO:design_pattern] synonym: "mitochondrial DNA depletion syndrome type 13" EXACT [DOID:0080131, MONDORULE:2] synonym: "mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" RELATED [Orphanet:369897] synonym: "mtDNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies" EXACT [Orphanet:369897] @@ -276563,11 +280889,13 @@ property_value: confidence "2.25" xsd:double id: MONDO:0014199 name: epileptic encephalopathy, early infantile, 17 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GNAO1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in GNAO1" EXACT [MONDO:design_pattern] synonym: "early infantile epileptic encephalopathy-17" RELATED [GARD:0013378] synonym: "EIEE17" RELATED [MONDO:Lexical, OMIM:615473] synonym: "epileptic encephalopathy, early infantile, 17" EXACT [MONDO:Lexical, OMIM:615473] synonym: "epileptic encephalopathy, early infantile, 17; EIEE17" RELATED [OMIM:615473] synonym: "epileptic encephalopathy, early infantile, type 17" EXACT [MONDORULE:2, OMIM:615473] +synonym: "GNAO1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] synonym: "GNAO1 encephalopathy" RELATED [GARD:0013378] xref: GARD:0013378 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:615473 {source="MONDO:equivalentTo"} @@ -276625,7 +280953,9 @@ synonym: "ciliary dyskinesia, primary, 24, without situs inversus" RELATED [OMIM synonym: "ciliary dyskinesia, primary, 24; CILD24" RELATED [OMIM:615481] synonym: "ciliary dyskinesia, primary, type 24" EXACT [MONDORULE:2, OMIM:615481] synonym: "primary ciliary dyskinesia 24 without situs inversus" EXACT [DOID:0110628] +synonym: "primary ciliary dyskinesia caused by mutation in RSPH1" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 24" EXACT [DOID:0110628, MONDORULE:2] +synonym: "RSPH1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] xref: DOID:0110628 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110628"} xref: OMIM:615481 {source="DOID:0110628", source="MONDO:equivalentTo"} @@ -276644,7 +280974,9 @@ synonym: "ciliary dyskinesia, primary, 25" RELATED [MONDO:Lexical, OMIM:615482] synonym: "ciliary dyskinesia, primary, 25, with or without situs inversus" RELATED [OMIM:615482] synonym: "ciliary dyskinesia, primary, 25; CILD25" RELATED [OMIM:615482] synonym: "ciliary dyskinesia, primary, type 25" EXACT [MONDORULE:2, OMIM:615482] +synonym: "DNAAF4 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 25 with or without situs inversus" EXACT [DOID:0110615] +synonym: "primary ciliary dyskinesia caused by mutation in DNAAF4" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 25" EXACT [DOID:0110615, MONDORULE:2] xref: DOID:0110615 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110615"} @@ -276737,19 +281069,21 @@ def: "Any Charcot-Marie-tooth disease type 2 in which the cause of the disease i subset: gard_rare {source="GARD:0012451"} subset: ordo_disease {source="Orphanet:397968"} synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2R" EXACT [DOID:0110161] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in TRIM2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2R" RELATED [GARD:0012451, OMIM:615490] synonym: "Charcot-Marie-Tooth disease, axonal, type 2R" RELATED [MONDO:Lexical, OMIM:615490] synonym: "Charcot-Marie-Tooth disease, axonal, type 2R; CMT2R" RELATED [OMIM:615490] synonym: "Charcot-Marie-Tooth neuropathy type 2R" EXACT [DOID:0110161] synonym: "Charcot-Marie-Tooth neuropathy, type 2R" RELATED [OMIM:615490] synonym: "CMT2R" EXACT [DOID:0110161, GARD:0012451, MONDO:Lexical, OMIM:615490, Orphanet:397968] +synonym: "TRIM2 Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110161 {source="MONDO:equivalentTo"} xref: GARD:0012451 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="ORDO:397968/ntbt", source="ORDO:397968/attributed", source="DOID:0110161", source="Orphanet:397968"} xref: OMIM:615490 {source="ORDO:397968/e", source="DOID:0110161", source="MONDO:equivalentTo", source="Orphanet:397968"} xref: Orphanet:397968 {source="OMIM:615490", source="DOID:0110161", source="MONDO:equivalentTo"} xref: UMLS:C3809655 {source="NCBI:mim2gene_medline", source="OMIM:615490", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:615490", source="Orphanet:397968/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110161/inferred", source="MONDO:Redundant", source="OMIM:615490", source="Orphanet:397968/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110161", source="MONDO:Entailed"} ! Charcot-Marie-tooth disease type 2 is_a: MONDO:0019601 {source="MONDOLEX:0014208", source="Orphanet:397968"} ! autosomal recessive axonal hereditary motor and sensory neuropathy intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 @@ -276800,12 +281134,14 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014211 name: primary ciliary dyskinesia 26 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CFAP298 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CFAP298 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "CILD26" EXACT [DOID:0110627, MONDO:Lexical, OMIM:615500] synonym: "ciliary dyskinesia, primary, 26" RELATED [MONDO:Lexical, OMIM:615500] synonym: "ciliary dyskinesia, primary, 26, with or without situs inversus" RELATED [OMIM:615500] synonym: "ciliary dyskinesia, primary, 26; CILD26" RELATED [OMIM:615500] synonym: "ciliary dyskinesia, primary, type 26" EXACT [MONDORULE:2, OMIM:615500] synonym: "primary ciliary dyskinesia 26 with or without situs inversus" EXACT [DOID:0110627] +synonym: "primary ciliary dyskinesia caused by mutation in CFAP298" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 26" EXACT [DOID:0110627, MONDORULE:2] xref: DOID:0110627 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110627"} @@ -276838,7 +281174,7 @@ xref: Orphanet:833 {source="OMIM:615501", source="MONDO:subClassOf"} xref: Orphanet:99732 {source="OMIM:615501", source="MONDO:subClassOf"} xref: UMLS:C1854990 {source="OMIM:615501", source="DOID:0111166", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:308400"} xref: url:https\://www.ncbi.nlm.nih.gov/pubmed/11095995 {source="DOID:0111166"} -is_a: MONDO:0020480 {source="OMIM:615501", source="Orphanet:308400"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency +is_a: MONDO:0020480 {source="DOID:0111166", source="OMIM:615501", source="Orphanet:308400"} ! sulfite oxidase deficiency due to molybdenum cofactor deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15465 {source="mim2gene_medgen"} ! GPHN property_value: confidence "7.124999999999998" xsd:double @@ -276889,12 +281225,14 @@ property_value: confidence "0.7173913043478257" xsd:double id: MONDO:0014215 name: primary ciliary dyskinesia 27 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC65 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CCDC65 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "CILD27" EXACT [DOID:0110611, MONDO:Lexical, OMIM:615504] synonym: "ciliary dyskinesia, primary, 27" RELATED [MONDO:Lexical, OMIM:615504] synonym: "ciliary dyskinesia, primary, 27, without situs inversus" RELATED [OMIM:615504] synonym: "ciliary dyskinesia, primary, 27; CILD27" RELATED [OMIM:615504] synonym: "ciliary dyskinesia, primary, type 27" EXACT [MONDORULE:2, OMIM:615504] synonym: "primary ciliary dyskinesia 27 without situs inversus" EXACT [DOID:0110611] +synonym: "primary ciliary dyskinesia caused by mutation in CCDC65" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 27" EXACT [DOID:0110611, MONDORULE:2] xref: DOID:0110611 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110611"} @@ -276915,7 +281253,9 @@ synonym: "ciliary dyskinesia, primary, 28, with or without situs inversus" RELAT synonym: "ciliary dyskinesia, primary, 28; CILD28" RELATED [OMIM:615505] synonym: "ciliary dyskinesia, primary, type 28" EXACT [MONDORULE:2, OMIM:615505] synonym: "primary ciliary dyskinesia 28 with or without situs inversus" EXACT [DOID:0110607] +synonym: "primary ciliary dyskinesia caused by mutation in SPAG1" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 28" EXACT [DOID:0110607, MONDORULE:2] +synonym: "SPAG1 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] xref: DOID:0110607 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110607"} xref: OMIM:615505 {source="MONDO:equivalentTo", source="DOID:0110607"} @@ -276929,6 +281269,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11 id: MONDO:0014217 name: telangiectasia, hereditary hemorrhagic, type 5 def: "Any hereditary hemorrhagic telangiectasia in which the cause of the disease is a mutation in the GDF2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GDF2 hereditary hemorrhagic telangiectasia" EXACT [MONDO:design_pattern] +synonym: "hereditary hemorrhagic telangiectasia caused by mutation in GDF2" EXACT [MONDO:design_pattern] synonym: "HHT5" RELATED [MONDO:Lexical, OMIM:615506] synonym: "telangiectasia, hereditary hemorrhagic, type 5" EXACT [MONDO:Lexical, OMIM:615506] synonym: "telangiectasia, hereditary hemorrhagic, type 5; HHT5" RELATED [OMIM:615506] @@ -277061,12 +281403,14 @@ synonym: "ALS19" EXACT [DOID:0060210, OMIM:615515] synonym: "ALS19" RELATED [MONDO:Lexical, OMIM:615515] synonym: "amyotrophic lateral sclerosis 19" EXACT [DOID:0060210, MONDO:Lexical, OMIM:615515] synonym: "amyotrophic lateral sclerosis 19; ALS19" RELATED [OMIM:615515] +synonym: "amyotrophic lateral sclerosis caused by mutation in ERBB4" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 19" EXACT [MONDORULE:2, OMIM:615515] +synonym: "ERBB4 amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0060210 {source="MONDO:equivalentTo"} xref: OMIM:615515 {source="DOID:0060210", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:615515", source="MONDO:subClassOf"} xref: UMLS:C3715155 {source="NCBI:mim2gene_medline", source="OMIM:615515", source="MONDO:equivalentTo"} -is_a: MONDO:0004976 {source="MONDO:Redundant", source="OMIM:615515"} ! amyotrophic lateral sclerosis +is_a: MONDO:0004976 {source="DOID:0060210", source="MONDO:Redundant", source="OMIM:615515"} ! amyotrophic lateral sclerosis is_a: MONDO:0005144 ! familial amyotrophic lateral sclerosis intersection_of: MONDO:0004976 ! amyotrophic lateral sclerosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3432 ! ERBB4 @@ -277098,10 +281442,12 @@ def: "Any hereditary hemochromatosis in which the cause of the disease is a muta comment: Editor notes: ORDO treats this as two diseases subset: merged_class subset: ordo_disease {source="Orphanet:247790", source="Orphanet:447792"} +synonym: "FTH1 hereditary hemochromatosis" EXACT [MONDO:design_pattern] synonym: "FTH1-associated iron overload" EXACT [DOID:0111031, Orphanet:247790] synonym: "FTH1-related iron overload" EXACT [DOID:0111031] synonym: "hemochromatosis, type 5" RELATED [MONDO:Lexical, OMIM:615517] synonym: "hemochromatosis, type 5; HFE5" RELATED [OMIM:615517] +synonym: "hereditary hemochromatosis caused by mutation in FTH1" EXACT [MONDO:design_pattern] synonym: "HFE5" EXACT [DOID:0111031, MONDO:Lexical, OMIM:615517] synonym: "iron overload, autosomal dominant" RELATED [OMIM:615517] xref: DOID:0111031 {source="MONDO:equivalentTo"} @@ -277113,7 +281459,7 @@ xref: Orphanet:447792 {source="MONDO:equivalentTo"} xref: UMLS:C1851316 {source="OMIM:615517", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:CN181217 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN237708 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006507 {source="MONDO:Redundant", source="OMIM:615517"} ! hereditary hemochromatosis +is_a: MONDO:0006507 {source="DOID:0111031", source="MONDO:Redundant", source="OMIM:615517"} ! hereditary hemochromatosis is_a: MONDO:0016363 {source="Orphanet:447792"} ! rare hereditary hemochromatosis intersection_of: MONDO:0006507 ! hereditary hemochromatosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3976 ! FTH1 @@ -277169,10 +281515,12 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0014228 name: corneal dystrophy, Fuchs endothelial, 8 def: "Any Fuchs' endothelial dystrophy in which the cause of the disease is a mutation in the AGBL1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AGBL1 Fuchs' endothelial dystrophy" EXACT [MONDO:design_pattern] synonym: "corneal dystrophy, Fuchs endothelial, 8" EXACT [MONDO:Lexical, OMIM:615523] synonym: "corneal dystrophy, Fuchs endothelial, 8; FECD8" RELATED [OMIM:615523] synonym: "corneal dystrophy, Fuchs endothelial, type 8" EXACT [MONDORULE:1, OMIM:615523] synonym: "FECD8" RELATED [MONDO:Lexical, OMIM:615523] +synonym: "Fuchs' endothelial dystrophy caused by mutation in AGBL1" EXACT [MONDO:design_pattern] xref: OMIM:615523 {source="MONDO:equivalentTo"} xref: Orphanet:98974 {source="OMIM:615523", source="MONDO:subClassOf"} xref: UMLS:C3809798 {source="OMIM:615523", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -277192,6 +281540,8 @@ synonym: "microphthalmia with or without pulmonary hypoplasia, diaphragmatic her synonym: "microphthalmia, syndromic 12" EXACT [MONDO:Lexical, OMIM:615524] synonym: "microphthalmia, syndromic 12; MCOPS12" RELATED [OMIM:615524] synonym: "microphthalmia, syndromic type 12" EXACT [MONDORULE:2, OMIM:615524] +synonym: "RARB syndromic microphthalmia" EXACT [MONDO:design_pattern] +synonym: "syndromic microphthalmia caused by mutation in RARB" EXACT [MONDO:design_pattern] synonym: "syndromic microphthalmia-12" RELATED [GARD:0013235] xref: GARD:0013235 {source="MONDO:equivalentTo"} xref: OMIM:615524 {source="MONDO:equivalentTo"} @@ -277227,6 +281577,7 @@ property_value: confidence "2.323076923076922" xsd:double id: MONDO:0014231 name: juvenile onset Parkinson disease 19A def: "Any Parkinson disease in which the cause of the disease is a mutation in the DNAJC6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DNAJC6 Parkinson disease" EXACT [MONDO:design_pattern] synonym: "juvenile onset Parkinson disease type 19A" EXACT [DOID:0060891, MONDORULE:4] synonym: "juvenile onset Parkinson's disease 19A" RELATED [DOID:0060891] synonym: "PARK19" RELATED [MONDO:Lexical, OMIM:615528] @@ -277237,13 +281588,14 @@ synonym: "Parkinson disease 19, juvenile-onset; PARK19" RELATED [OMIM:615528] synonym: "Parkinson disease 19A, juvenile-onset" RELATED [OMIM:615528] synonym: "Parkinson disease 19A, juvenile-onset; PARK19A" RELATED [OMIM:615528] synonym: "Parkinson disease 19B, early-onset" RELATED [OMIM:615528] +synonym: "Parkinson disease caused by mutation in DNAJC6" EXACT [MONDO:design_pattern] xref: DOID:0060891 {source="MONDO:equivalentTo"} xref: ICD10:G20 {source="DOID:0060891"} xref: OMIM:615528 {source="DOID:0060891", source="MONDO:equivalentTo"} xref: Orphanet:391411 {source="OMIM:615528", source="DOID:0060891", source="MONDO:subClassOf"} xref: UMLS:C3809811 {source="NCBI:mim2gene_medline", source="OMIM:615528", source="MONDO:equivalentTo"} is_a: MONDO:0000828 {source="DOID:0060891"} ! juvenile-onset Parkinson disease -is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:615528"} ! Parkinson disease +is_a: MONDO:0005180 {source="DOID:0060891/inferred", source="MONDO:Redundant", source="OMIM:615528"} ! Parkinson disease is_a: MONDO:0018321 {source="ORDO:391411/btnt"} ! atypical juvenile parkinsonism intersection_of: MONDO:0005180 ! Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15469 ! DNAJC6 @@ -277254,8 +281606,10 @@ property_value: confidence "0.3096492687679333" xsd:double id: MONDO:0014232 name: craniosynostosis 5, susceptibility to def: "Any craniosynostosis in which the cause of the disease is a mutation in the ALX4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ALX4 craniosynostosis" EXACT [MONDO:design_pattern] synonym: "craniosynostosis 5, susceptibility to" EXACT [MONDO:Lexical, OMIM:615529] synonym: "craniosynostosis 5, susceptibility to; CRS5" RELATED [OMIM:615529] +synonym: "craniosynostosis caused by mutation in ALX4" EXACT [MONDO:design_pattern] synonym: "CRS5" RELATED [MONDO:Lexical, OMIM:615529] synonym: "susceptibility to craniosynostosis 5" RELATED [OMIM:615529] xref: OMIM:615529 {source="MONDO:equivalentTo"} @@ -277277,11 +281631,13 @@ synonym: "early-onset Parkinson's disease 20" RELATED [DOID:0060898] synonym: "PARK20" RELATED [MONDO:Lexical, OMIM:615530] synonym: "Parkinson disease 20, early-onset" RELATED [MONDO:Lexical, OMIM:615530] synonym: "Parkinson disease 20, early-onset; PARK20" RELATED [OMIM:615530] +synonym: "Parkinson disease caused by mutation in SYNJ1" EXACT [MONDO:design_pattern] +synonym: "SYNJ1 Parkinson disease" EXACT [MONDO:design_pattern] xref: DOID:0060898 {source="MONDO:equivalentTo"} xref: OMIM:615530 {source="DOID:0060898", source="MONDO:equivalentTo"} xref: Orphanet:391411 {source="MONDO:subClassOf", source="MONDO:relatedTo", source="OMIM:615530"} xref: UMLS:C3809824 {source="NCBI:mim2gene_medline", source="OMIM:615530", source="MONDO:equivalentTo"} -is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:615530"} ! Parkinson disease +is_a: MONDO:0005180 {source="DOID:0060898/inferred", source="MONDO:Redundant", source="OMIM:615530"} ! Parkinson disease is_a: MONDO:0017279 {source="DOID:0060898", source="MONDOLEX:0014233"} ! young-onset Parkinson disease intersection_of: MONDO:0005180 ! Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11503 ! SYNJ1 @@ -277326,9 +281682,11 @@ is_a: MONDO:0000762 {source="DC-OMIM:615538", source="DOID:0060437"} ! syndrome id: MONDO:0014236 name: Ehlers-Danlos syndrome, musculocontractural type 2 def: "Any Ehlers-Danlos syndrome, musculocontractural type in which the cause of the disease is a mutation in the DSE gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DSE Ehlers-Danlos syndrome, musculocontractural type" EXACT [MONDO:design_pattern] synonym: "EDSMC2" RELATED [MONDO:Lexical, OMIM:615539] synonym: "Ehlers-Danlos syndrome, musculocontractural type 2" EXACT [MONDO:Lexical, OMIM:615539] synonym: "Ehlers-Danlos syndrome, musculocontractural type 2; EDSMC2" RELATED [OMIM:615539] +synonym: "Ehlers-Danlos syndrome, musculocontractural type caused by mutation in DSE" EXACT [MONDO:design_pattern] synonym: "Ehlers-Danlos syndrome, musculocontractural type, 2" RELATED [OMIM:615539] synonym: "Ehlers-Danlos syndrome, musculocontractural type, 2; EDSMC2" RELATED [OMIM:615539] xref: OMIM:615539 {source="MONDO:equivalentTo"} @@ -277346,11 +281704,13 @@ name: autosomal recessive nonsyndromic deafness 76 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the SYNE4 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen synonym: "autosomal recessive deafness 76" EXACT [DOID:0110524] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in SYNE4" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 76" EXACT [DOID:0110524, MONDORULE:2] synonym: "deafness, autosomal recessive 76" RELATED [MONDO:Lexical, OMIM:615540] synonym: "deafness, autosomal recessive 76; DFNB76" RELATED [OMIM:615540] synonym: "deafness, autosomal recessive type 76" EXACT [MONDORULE:2, OMIM:615540] synonym: "DFNB76" EXACT [DOID:0110524, MONDO:Lexical, OMIM:615540] +synonym: "SYNE4 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110524 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110524"} xref: OMIM:615540 {source="DOID:0110524", source="MONDO:equivalentTo"} @@ -277396,8 +281756,10 @@ property_value: confidence "1.0498438571428572" xsd:double id: MONDO:0014240 name: periventricular nodular heterotopia 6 def: "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the ERMARD gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ERMARD periventricular nodular heterotopia" EXACT [MONDO:design_pattern] synonym: "periventricular nodular heterotopia 6" EXACT [MONDO:Lexical, OMIM:615544] synonym: "periventricular nodular heterotopia 6; PVNH6" RELATED [OMIM:615544] +synonym: "periventricular nodular heterotopia caused by mutation in ERMARD" EXACT [MONDO:design_pattern] synonym: "periventricular nodular heterotopia type 6" EXACT [MONDORULE:1, OMIM:615544] synonym: "PVNH6" RELATED [MONDO:Lexical, OMIM:615544] xref: OMIM:615544 {source="MONDO:equivalentTo"} @@ -277418,6 +281780,8 @@ synonym: "ALL3" RELATED [MONDO:Lexical, OMIM:615545] synonym: "leukemia, acute lymphoblastic, susceptibility to, 3" EXACT [MONDO:Lexical, OMIM:615545] synonym: "leukemia, acute lymphoblastic, susceptibility to, 3; ALL3" RELATED [OMIM:615545] synonym: "leukemia, acute lymphoblastic, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:615545] +synonym: "PAX5 precursor B-cell acute lymphoblastic leukemia" EXACT [MONDO:design_pattern] +synonym: "precursor B-cell acute lymphoblastic leukemia caused by mutation in PAX5" EXACT [MONDO:design_pattern] synonym: "susceptibility to acute lymphoblastic leukemia 3" RELATED [OMIM:615545] xref: OMIM:615545 {source="MONDO:equivalentTo"} xref: Orphanet:99860 {source="OMIM:615545", source="MONDO:subClassOf"} @@ -277432,8 +281796,10 @@ property_value: confidence "0.1805555555555558" xsd:double id: MONDO:0014242 name: van Maldergem syndrome 2 def: "Any van Maldergem syndrome in which the cause of the disease is a mutation in the FAT4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FAT4 van Maldergem syndrome" EXACT [MONDO:design_pattern] synonym: "van Maldergem syndrome 2" EXACT [MONDO:Lexical, OMIM:615546] synonym: "VAN Maldergem syndrome 2; VMLDS2" RELATED [OMIM:615546] +synonym: "van Maldergem syndrome caused by mutation in FAT4" EXACT [MONDO:design_pattern] synonym: "Van Maldergem syndrome type 2" EXACT [MONDORULE:1, OMIM:615546] synonym: "VMLDS2" RELATED [MONDO:Lexical, OMIM:615546] xref: OMIM:615546 {source="MONDO:equivalentTo"} @@ -277474,6 +281840,7 @@ name: hereditary sensory and autonomic neuropathy type 7 def: "Hereditary sensory and autonomic neuropathy type 7 (HSAN7) is a genetic condition that causes the inability to feel pain, excessive sweating, and gastrointestinal issues. Gastrointestinal issues can cause failure to thrive , painful constipation, and diarrhea. The constipation is due to intestinal dysmotility, where the the muscles and nerves of the digestive system do not move food through the digestive tract like it should. Signs and symptoms of HSAN7 usually appear at birth or during infancy. The inability to feel pain often leads to repeated, severe injuries, including bone fractures and joint dislocations. People with HSAN7 may also heal slowly putting them at risk for further complications, such as infection. Excessive sweating may cause itching. Other features may include partial insensitivity to cold and hot temperatures, mild muscle weakness, and motor skill delays. HSAN7 is not known to affect learning or intelligence. Treatment of HSAN7 aims to prevent injury and treat gastrointestinal and orthopedic problems. HSAN7 is caused by a mutation in the SCN11A gene. People with HSAN7 have a 1 in 2 or 50% chance of passing the condition on to each of their children. This pattern of inheritance is called ' autosomal dominant.'" [https://rarediseases.info.nih.gov/diseases/12732/hereditary-sensory-and-autonomic-neuropathy-type-7] subset: gard_rare {source="GARD:0012732"} subset: ordo_disease {source="Orphanet:391397"} +synonym: "autosomal dominant hereditary sensory and autonomic neuropathy caused by mutation in SCN11A" EXACT [MONDO:design_pattern] synonym: "CIP with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397] synonym: "congenital insensitivity to pain with hyperhidrosis and gastrointestinal dysfunction" EXACT [Orphanet:391397] synonym: "hereditary sensory and autonomic neuropathy type VII" EXACT [DOID:0070149, Orphanet:391397] @@ -277486,6 +281853,7 @@ synonym: "insensitivity to pain, congenital, with gastrointestinal dysfunction a synonym: "neuropathy, hereditary sensory and autonomic, type 7" RELATED [OMIM:615548] synonym: "neuropathy, hereditary sensory and autonomic, type VII" RELATED [GARD:0012732, MONDO:Lexical, OMIM:615548] synonym: "neuropathy, hereditary sensory and autonomic, type VII; HSAN7" RELATED [OMIM:615548] +synonym: "SCN11A autosomal dominant hereditary sensory and autonomic neuropathy" EXACT [MONDO:design_pattern] xref: DOID:0070149 {source="MONDO:equivalentTo"} xref: GARD:0012732 {source="MONDO:equivalentTo"} xref: GARD:12723 {source="DOID:0070149"} @@ -277509,7 +281877,9 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio synonym: "DBA12" RELATED [MONDO:Lexical, OMIM:615550] synonym: "Diamond-Blackfan anemia 12" EXACT [MONDO:Lexical, OMIM:615550] synonym: "DIAMOND-Blackfan ANEMIA 12; DBA12" RELATED [OMIM:615550] +synonym: "Diamond-Blackfan anemia caused by mutation in RPL15" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 12" EXACT [MONDORULE:2, OMIM:615550] +synonym: "RPL15 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: OMIM:615550 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="MONDO:subClassOf", source="OMIM:615550"} xref: UMLS:C3809888 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615550"} @@ -277525,7 +281895,9 @@ def: "Any familial episodic pain syndrome in which the cause of the disease is a synonym: "episodic pain syndrome, familial, 2" EXACT [MONDO:Lexical, OMIM:615551] synonym: "episodic pain syndrome, familial, 2; FEPS2" RELATED [OMIM:615551] synonym: "episodic pain syndrome, familial, type 2" EXACT [MONDORULE:1, OMIM:615551] +synonym: "familial episodic pain syndrome caused by mutation in SCN10A" EXACT [MONDO:design_pattern] synonym: "FEPS2" RELATED [MONDO:Lexical, OMIM:615551] +synonym: "SCN10A familial episodic pain syndrome" EXACT [MONDO:design_pattern] xref: OMIM:615551 {source="MONDO:equivalentTo"} xref: Orphanet:306577 {source="MONDO:subClassOf", source="OMIM:615551"} xref: UMLS:C3809893 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615551"} @@ -277640,9 +282012,11 @@ id: MONDO:0014252 name: familial hypobetalipoproteinemia 1 def: "Any hypobetalipoproteinemia in which the cause of the disease is a mutation in the APOB gene." [MONDO:patterns/disease_series_by_gene] synonym: "acanthocytosis with hypobetalipoproteinemia" RELATED [OMIM:615558] +synonym: "APOB hypobetalipoproteinemia" EXACT [MONDO:design_pattern] synonym: "familial hypobetalipoproteinemia type 1" EXACT [DOID:0111062, MONDORULE:1] synonym: "FHBL" RELATED [GARD:0002876] synonym: "FHBL1" EXACT [DOID:0111062, MONDO:Lexical, OMIM:615558] +synonym: "hypobetalipoproteinemia caused by mutation in APOB" EXACT [MONDO:design_pattern] synonym: "hypobetalipoproteinemia, familial" RELATED [OMIM:615558] synonym: "hypobetalipoproteinemia, familial, 1" RELATED [MONDO:Lexical, OMIM:615558] synonym: "hypobetalipoproteinemia, familial, 1; FHBL1" RELATED [OMIM:615558] @@ -277656,7 +282030,7 @@ xref: Orphanet:426 {source="OMIM:615558"} xref: SCTID:60193003 {source="MONDO:kboom-pr-0.69/0.31/0.27", source="MONDO:equivalentTo"} xref: UMLS:C1862596 {source="OMIM:615558"} xref: UMLS:CN182502 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0017774 {source="DC-OMIM:615558", source="DOID:0111062", source="MONDO:Entailed"} ! hypobetalipoproteinemia +is_a: MONDO:0017774 {source="DC-OMIM:615558", source="DOID:0111062", source="MESH:C566267/inferred", source="MONDO:Entailed"} ! hypobetalipoproteinemia intersection_of: MONDO:0017774 ! hypobetalipoproteinemia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/603 ! APOB relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/603 {source="mim2gene_medgen"} ! APOB @@ -277667,6 +282041,7 @@ name: autoimmune lymphoproliferative syndrome type 3 def: "A rare, primary immunodeficiency. It is caused by a currently undetermined defect in the Fas-induced apoptosis pathway. No mutations in Fas, FASLG or CASP10 are detectable. Disruption of Fas-induced apoptosis impairs lymphocyte homeostasis and immune tolerance. Characteristic laboratory findings include an increase in circulating, double-negative (CD4-/CD8-) T cells in the setting of immune-mediated anemia, thrombocytopenia and neutropenia. Clinical signs present in childhood include fatigue, pallor, bruising, hepatosplenomegaly and chronic, non-malignant, non-infectious lymphadenopathy. The clinical course is influenced by a strong association with other autoimmune disorders and an increased risk for developing Hodgkin and non-Hodgkin lymphoma." [NCIT:C39577] synonym: "ALPS-U" EXACT [NCIT:C39577] synonym: "ALPS3" EXACT [DOID:0110119, MONDO:Lexical, OMIM:615559] +synonym: "autoimmune lymphoproliferative syndrome caused by mutation in PRKCD" EXACT [MONDO:design_pattern] synonym: "autoimmune lymphoproliferative syndrome type III" EXACT [DOID:0110119] synonym: "autoimmune lymphoproliferative syndrome, type 3" RELATED [OMIM:615559] synonym: "autoimmune lymphoproliferative syndrome, type III" RELATED [MONDO:Lexical, OMIM:615559] @@ -277676,6 +282051,7 @@ synonym: "common variable immunodeficiency 9" EXACT [DOID:0110119] synonym: "CVID9" EXACT [DOID:0110119] synonym: "immunodeficiency, common variable, 9" RELATED [OMIM:615559] synonym: "immunodeficiency, common variable, 9, formerly" RELATED [OMIM:615559] +synonym: "PRKCD autoimmune lymphoproliferative syndrome" EXACT [MONDO:design_pattern] synonym: "type 3 ALPS" EXACT [NCIT:C39577] synonym: "type 3 autoimmune lymphoproliferative syndrome" EXACT [NCIT:C39577] xref: DOID:0110119 {source="MONDO:equivalentTo"} @@ -277694,12 +282070,15 @@ property_value: confidence "1.0000363642975323" xsd:double [Term] id: MONDO:0014254 name: otofaciocervical syndrome 2 +def: "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the PAX1 gene." [MONDO:design_pattern] synonym: "OFC2" RELATED [MONDO:Lexical, OMIM:615560] synonym: "OTFCS2" RELATED [OMIM:615560] synonym: "otofaciocervical syndrome 2" EXACT [MONDO:Lexical, OMIM:615560] synonym: "OTOFACIOCERVICAL syndrome 2; OFC2" RELATED [OMIM:615560] synonym: "OTOFACIOCERVICAL syndrome 2; OTFCS2" RELATED [OMIM:615560] +synonym: "otofaciocervical syndrome caused by mutation in PAX1" EXACT [MONDO:design_pattern] synonym: "Otofaciocervical syndrome type 2" EXACT [MONDORULE:1, OMIM:615560] +synonym: "PAX1 otofaciocervical syndrome" EXACT [MONDO:design_pattern] xref: OMIM:615560 {source="MONDO:equivalentTo"} xref: Orphanet:2792 {source="OMIM:615560", source="MONDO:subClassOf"} xref: UMLS:C3714942 {source="NCBI:mim2gene_medline", source="OMIM:615560", source="MONDO:equivalentTo"} @@ -277724,8 +282103,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10 id: MONDO:0014256 name: retinitis pigmentosa 67 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the NEK2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "NEK2 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 67" EXACT [MONDO:Lexical, OMIM:615565] synonym: "retinitis pigmentosa 67; RP67" RELATED [OMIM:615565] +synonym: "retinitis pigmentosa caused by mutation in NEK2" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 67" EXACT [DOID:0110359, MONDORULE:2, OMIM:615565] synonym: "RP67" EXACT [DOID:0110359, MONDO:Lexical, OMIM:615565] xref: DOID:0110359 {source="MONDO:equivalentTo"} @@ -277741,6 +282122,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/77 id: MONDO:0014257 name: nephrotic syndrome, type 9 def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the COQ8B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "COQ8B nephrotic syndrome" EXACT [MONDO:design_pattern] +synonym: "nephrotic syndrome caused by mutation in COQ8B" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 9" EXACT [MONDO:Lexical, OMIM:615573] synonym: "nephrotic syndrome, type 9; NPHS9" RELATED [OMIM:615573] synonym: "NPHS9" RELATED [MONDO:Lexical, OMIM:615573] @@ -277776,8 +282159,10 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0014259 name: neuronopathy, distal hereditary motor, type 2D def: "Any neuronopathy, distal hereditary motor in which the cause of the disease is a mutation in the FBXO38 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FBXO38 neuronopathy, distal hereditary motor" EXACT [MONDO:design_pattern] synonym: "HMN 2D" RELATED [OMIM:615575] synonym: "HMN2D" RELATED [MONDO:Lexical, OMIM:615575] +synonym: "neuronopathy, distal hereditary motor caused by mutation in FBXO38" EXACT [MONDO:design_pattern] synonym: "neuronopathy, distal hereditary motor, type IID" RELATED [MONDO:Lexical, OMIM:615575] synonym: "neuronopathy, distal hereditary motor, type IID; HMN2D" RELATED [OMIM:615575] synonym: "neuropathy, distal hereditary motor, type 2D" RELATED [OMIM:615575] @@ -277797,12 +282182,14 @@ property_value: confidence "0.519607843137255" xsd:double id: MONDO:0014260 name: immunodeficiency, common variable, 10 def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "common variable immunodeficiency caused by mutation in NFKB2" EXACT [MONDO:design_pattern] synonym: "CVID10" RELATED [MONDO:Lexical, OMIM:615577] synonym: "Deficit 1N anterior pituitary function and variable immunodeficiency" RELATED [OMIM:615577] synonym: "immunodeficiency, common variable, 10" EXACT [MONDO:Lexical, OMIM:615577] synonym: "immunodeficiency, common variable, 10; CVID10" RELATED [OMIM:615577] synonym: "immunodeficiency, common variable, type 10" EXACT [MONDORULE:2, OMIM:615577] synonym: "immunodeficiency, common variable, with central adrenal insufficiency" RELATED [OMIM:615577] +synonym: "NFKB2 common variable immunodeficiency" EXACT [MONDO:design_pattern] xref: OMIM:615577 {source="MONDO:equivalentTo"} xref: Orphanet:1572 {source="OMIM:615577", source="MONDO:subClassOf"} xref: Orphanet:293978 {source="OMIM:615577", source="MONDO:superClassOf"} @@ -277815,11 +282202,14 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/77 [Term] id: MONDO:0014261 name: growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome +def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SFXN4 gene." [MONDO:design_pattern] subset: ordo_disease {source="Orphanet:391348"} synonym: "combined oxidative phosphorylation deficiency 18" RELATED [MONDO:Lexical, OMIM:615578] synonym: "combined oxidative phosphorylation deficiency 18; COXPD18" RELATED [OMIM:615578] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in SFXN4" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 18" EXACT [MONDORULE:2, OMIM:615578] synonym: "COXPD18" RELATED [MONDO:Lexical, OMIM:615578] +synonym: "SFXN4 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: ICD10:E88.8 {source="ORDO:391348/attributed", source="Orphanet:391348", source="ORDO:391348/ntbt"} xref: OMIM:615578 {source="ORDO:391348/e", source="Orphanet:391348", source="MONDO:equivalentTo"} xref: Orphanet:391348 {source="OMIM:615578", source="MONDO:equivalentTo"} @@ -277827,6 +282217,8 @@ xref: UMLS:C3810001 {source="OMIM:615578", source="NCBI:mim2gene_medline", sourc is_a: MONDO:0000732 {source="DC-OMIM:615578", source="OMIM:615578"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016799 {source="Orphanet:391348"} ! mitochondrial oxidative phosphorylation disorder with no known mechanism is_a: MONDO:0019058 {source="Orphanet:391348"} ! neurometabolic disease +intersection_of: MONDO:0000732 {source="mim2gene_medgen"} ! combined oxidative phosphorylation deficiency +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16088 {source="mim2gene_medgen"} ! SFXN4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16088 {source="mim2gene_medgen"} ! SFXN4 property_value: confidence "2.692307692307692" xsd:double @@ -277881,9 +282273,11 @@ id: MONDO:0014265 name: Alzheimer disease 18 def: "Any Alzheimer disease in which the cause of the disease is a mutation in the ADAM10 gene." [MONDO:patterns/disease_series_by_gene] synonym: "AD18" EXACT [DOID:0110050, MONDO:Lexical, OMIM:615590] +synonym: "ADAM10 Alzheimer disease" EXACT [MONDO:design_pattern] synonym: "Alzheimer disease 18" EXACT [DOID:0110050, MONDO:Lexical, OMIM:615590] synonym: "Alzheimer disease 18, late-onset" RELATED [OMIM:615590] synonym: "Alzheimer disease 18; AD18" RELATED [OMIM:615590] +synonym: "Alzheimer disease caused by mutation in ADAM10" EXACT [MONDO:design_pattern] synonym: "Alzheimer disease type 18" EXACT [MONDORULE:2, OMIM:615590] synonym: "Alzheimer's disease 18" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Alzheimer's disease type 18" EXACT [DOID:0110050, MONDORULE:2] @@ -277901,7 +282295,9 @@ id: MONDO:0014266 name: age related macular degeneration 15 def: "Any age-related macular degeneration in which the cause of the disease is a mutation in the C9 gene." [MONDO:patterns/disease_series_by_gene] synonym: "age related macular degeneration type 15" EXACT [DOID:0110027, MONDORULE:2] +synonym: "age-related macular degeneration caused by mutation in C9" EXACT [MONDO:design_pattern] synonym: "ARMD15" EXACT [DOID:0110027, MONDO:Lexical, OMIM:615591] +synonym: "C9 age-related macular degeneration" EXACT [MONDO:design_pattern] synonym: "macular DEGENERATION, AGE-RELATED, 15" RELATED [MONDO:Lexical, OMIM:615591] synonym: "macular DEGENERATION, AGE-RELATED, 15; ARMD15" RELATED [OMIM:615591] synonym: "macular Degeneration, Age-Related, type 15" EXACT [MONDORULE:2, OMIM:615591] @@ -277962,8 +282358,10 @@ name: combined oxidative phosphorylation deficiency 19 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the LYRM4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "combined oxidative phosphorylation deficiency 19" EXACT [MONDO:Lexical, OMIM:615595] synonym: "combined oxidative phosphorylation deficiency 19; COXPD19" RELATED [OMIM:615595] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in LYRM4" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 19" EXACT [MONDORULE:2, OMIM:615595] synonym: "COXPD19" RELATED [MONDO:Lexical, OMIM:615595] +synonym: "LYRM4 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: OMIM:615595 {source="MONDO:equivalentTo"} xref: Orphanet:397593 {source="MONDO:subClassOf", source="OMIM:615595"} xref: UMLS:C3810055 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615595"} @@ -278085,9 +282483,11 @@ property_value: confidence "8.166666666666666" xsd:double id: MONDO:0014275 name: Fanconi renotubular syndrome 3 def: "Any Fanconi syndrome in which the cause of the disease is a mutation in the EHHADH gene." [MONDO:patterns/disease_series_by_gene] +synonym: "EHHADH Fanconi syndrome" EXACT [MONDO:design_pattern] synonym: "Fanconi renotubular syndrome 3" EXACT [MONDO:Lexical, OMIM:615605] synonym: "FANCONI renotubular syndrome 3; FRTS3" RELATED [OMIM:615605] synonym: "Fanconi renotubular syndrome type 3" EXACT [MONDORULE:1, OMIM:615605] +synonym: "Fanconi syndrome caused by mutation in EHHADH" EXACT [MONDO:design_pattern] synonym: "FRTS3" RELATED [MONDO:Lexical, OMIM:615605] xref: OMIM:615605 {source="MONDO:equivalentTo"} xref: Orphanet:3337 {source="OMIM:615605", source="MONDO:subClassOf"} @@ -278210,6 +282610,8 @@ subset: ordo_disease {source="Orphanet:401849"} subset: ordo_inheritance_inconsistent synonym: "autosomal spastic paraplegia type 72" EXACT [DOID:0110817] synonym: "hereditary spastic paraplegia type 72" EXACT [DOID:0110817, MONDORULE:2] +synonym: "pure hereditary spastic paraplegia caused by mutation in REEP2" EXACT [MONDO:design_pattern] +synonym: "REEP2 pure hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 72, autosomal dominant" NARROW [OMIM:615625] synonym: "spastic paraplegia 72, autosomal recessive" RELATED [OMIM:615625] synonym: "spastic paraplegia 72, autosomal recessive; SPG72" NARROW [OMIM:615625] @@ -278231,11 +282633,13 @@ id: MONDO:0014283 name: autosomal dominant nonsyndromic deafness 56 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TNC gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 56" EXACT [DOID:0110581] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TNC" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 56" EXACT [DOID:0110581, MONDORULE:2] synonym: "deafness, autosomal dominant 56" RELATED [MONDO:Lexical, OMIM:615629] synonym: "deafness, autosomal dominant 56; DFNA56" RELATED [OMIM:615629] synonym: "deafness, autosomal dominant type 56" EXACT [MONDORULE:2, OMIM:615629] synonym: "DFNA56" EXACT [DOID:0110581, MONDO:Lexical, OMIM:615629] +synonym: "TNC autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110581 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110581"} xref: OMIM:615629 {source="DOID:0110581", source="MONDO:equivalentTo"} @@ -278282,6 +282686,8 @@ property_value: confidence "0.8364197530864197" xsd:double id: MONDO:0014286 name: neuropathy, hereditary sensory, type 1F def: "Any hereditary sensory and autonomic neuropathy type 1 in which the cause of the disease is a mutation in the ATL3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ATL3 hereditary sensory and autonomic neuropathy type 1" EXACT [MONDO:design_pattern] +synonym: "hereditary sensory and autonomic neuropathy type 1 caused by mutation in ATL3" EXACT [MONDO:design_pattern] synonym: "hereditary sensory neuropathy type 1F" RELATED [DOID:0070154] synonym: "hereditary sensory neuropathy type IF" EXACT [DOID:0070154] synonym: "HSN 1F" RELATED [OMIM:615632] @@ -278292,7 +282698,7 @@ xref: DOID:0070154 {source="MONDO:equivalentTo"} xref: OMIM:615632 {source="DOID:0070154", source="MONDO:equivalentTo"} xref: Orphanet:36386 {source="OMIM:615632", source="MONDO:subClassOf"} xref: UMLS:C3810194 {source="OMIM:615632", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018213 {source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 +is_a: MONDO:0018213 {source="DOID:0070154", source="ORDO:36386/btnt"} ! hereditary sensory and autonomic neuropathy type 1 intersection_of: MONDO:0018213 ! hereditary sensory and autonomic neuropathy type 1 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24526 ! ATL3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24526 {source="mim2gene_medgen"} ! ATL3 @@ -278319,9 +282725,11 @@ property_value: confidence "0.7173913043478257" xsd:double id: MONDO:0014288 name: Joubert syndrome 21 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CSPP1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CSPP1 Joubert syndrome" EXACT [MONDO:design_pattern] synonym: "JBTS21" EXACT [DOID:0110990, MONDO:Lexical, OMIM:615636] synonym: "Joubert syndrome 21" EXACT [MONDO:Lexical, OMIM:615636] synonym: "Joubert syndrome 21; JBTS21" RELATED [OMIM:615636] +synonym: "Joubert syndrome caused by mutation in CSPP1" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 21" EXACT [DOID:0110990, MONDORULE:2, OMIM:615636] xref: DOID:0110990 {source="MONDO:equivalentTo"} xref: OMIM:615636 {source="DOID:0110990", source="MONDO:equivalentTo"} @@ -278359,11 +282767,13 @@ id: MONDO:0014290 name: neurodegeneration with brain iron accumulation 6 def: "COASY protein-associated neurodegeneration (CoPAN) is a very rare, slowly progressive form of neurodegeneration with brain iron accumulation (NBIA) characterized by classic NBIA features. The clinical manifestations include early-onset spastic-dystonic paraparesis, oromandibular dystonia, dysarthria, parkinsonism, axonal neuropathy, progressive cognitive impairment, complex motor tics, and obsessive-compulsive disorder." [Orphanet:397725] subset: ordo_disease {source="Orphanet:397725"} +synonym: "COASY neurodegeneration with brain iron accumulation" EXACT [MONDO:design_pattern] synonym: "COASY protein-associated neurodegeneration" RELATED [Orphanet:397725] synonym: "CoPAN" EXACT [DOID:0110740, Orphanet:397725] synonym: "NBIA6" EXACT [DOID:0110740, MONDO:Lexical, OMIM:615643, Orphanet:397725] synonym: "neurodegeneration with brain iron accumulation 6" EXACT [MONDO:Lexical, OMIM:615643] synonym: "neurodegeneration with brain iron accumulation 6; NBIA6" RELATED [OMIM:615643] +synonym: "neurodegeneration with brain iron accumulation caused by mutation in COASY" EXACT [MONDO:design_pattern] synonym: "neurodegeneration with brain iron accumulation due to COASY mutation" EXACT [DOID:0110740, Orphanet:397725] synonym: "neurodegeneration with brain iron accumulation type 6" EXACT [DOID:0110740, MONDORULE:1, OMIM:615643] xref: DOID:0110740 {source="MONDO:equivalentTo"} @@ -278457,11 +282867,13 @@ def: "gene (3q12.2) encoding protein TFG, which is thought to play a role in ER subset: ordo_disease {source="Orphanet:431329"} synonym: "autosomal recessive spastic paraplegia 57" EXACT [DOID:0110809] synonym: "autosomal recessive spastic paraplegia type 57" EXACT [DOID:0110809] +synonym: "hereditary spastic paraplegia caused by mutation in TFG" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 57" EXACT [DOID:0110809, MONDORULE:2] synonym: "spastic paraplegia 57, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615658] synonym: "spastic paraplegia 57, autosomal recessive; SPG57" RELATED [OMIM:615658] synonym: "spastic paraplegia due to partial TFG deficiency" EXACT [Orphanet:431329] synonym: "SPG57" EXACT [DOID:0110809, MONDO:Lexical, OMIM:615658, Orphanet:431329] +synonym: "TFG hereditary spastic paraplegia" EXACT [MONDO:design_pattern] xref: DOID:0110809 {source="MONDO:equivalentTo"} xref: EFO:0009017 {source="MONDO:equivalentTo"} xref: ICD10:G11.4 {source="ORDO:431329/attributed", source="DOID:0110809", source="ORDO:431329/ntbt", source="Orphanet:431329", source="MONDO:subClassOf"} @@ -278470,7 +282882,7 @@ xref: Orphanet:431329 {source="DOID:0110809", source="OMIM:615658", source="MOND xref: UMLS:C3714897 {source="NCBI:mim2gene_medline", source="OMIM:615658", source="MONDO:equivalentTo"} xref: UMLS:C4510084 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0018550 {source="Orphanet:431329"} ! spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:615658", source="Orphanet:431329/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110809", source="EFO:0009017/inferred", source="MONDO:Redundant", source="OMIM:615658", source="Orphanet:431329/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11758 ! TFG relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11758 {source="mim2gene_medgen"} ! TFG @@ -278481,9 +282893,11 @@ id: MONDO:0014296 name: Warburg micro syndrome 4 def: "Any Warburg micro syndrome in which the cause of the disease is a mutation in the TBC1D20 gene." [MONDO:patterns/disease_series_by_gene] synonym: "micro syndrome 4" EXACT [DOID:0110719] +synonym: "TBC1D20 Warburg micro syndrome" EXACT [MONDO:design_pattern] synonym: "WARBM4" EXACT [DOID:0110719, MONDO:Lexical, OMIM:615663] synonym: "Warburg micro syndrome 4" EXACT [MONDO:Lexical, OMIM:615663] synonym: "WARBURG micro syndrome 4; WARBM4" RELATED [OMIM:615663] +synonym: "Warburg micro syndrome caused by mutation in TBC1D20" EXACT [MONDO:design_pattern] synonym: "Warburg micro syndrome type 4" EXACT [DOID:0110719, MONDORULE:1, OMIM:615663] xref: DOID:0110719 {source="MONDO:equivalentTo"} xref: ICD10:Q87.0 {source="DOID:0110719"} @@ -278503,13 +282917,15 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th synonym: "JBTS22" EXACT [DOID:0110991, MONDO:Lexical, OMIM:615665] synonym: "Joubert syndrome 22" EXACT [MONDO:Lexical, OMIM:615665] synonym: "Joubert syndrome 22; JBTS22" RELATED [OMIM:615665] +synonym: "Joubert syndrome caused by mutation in PDE6D" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 22" EXACT [DOID:0110991, MONDORULE:2, OMIM:615665] +synonym: "PDE6D Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110991 {source="MONDO:equivalentTo"} xref: OMIM:615665 {source="DOID:0110991", source="MONDO:equivalentTo"} xref: Orphanet:2754 {source="OMIM:615665", source="MONDO:subClassOf"} xref: UMLS:C3810278 {source="OMIM:615665", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0010176 {source="MONDOLEX:0014297", source="Orphanet:Inferred"} ! Joubert syndrome with orofaciodigital defect -is_a: MONDO:0018772 {source="MONDO:Redundant", source="OMIM:615665"} ! Joubert syndrome +is_a: MONDO:0018772 {source="DOID:0110991", source="MONDO:Redundant", source="OMIM:615665"} ! Joubert syndrome intersection_of: MONDO:0018772 ! Joubert syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8788 ! PDE6D relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/8788 {source="mim2gene_medgen"} ! PDE6D @@ -278583,8 +282999,10 @@ id: MONDO:0014302 name: hereditary spastic paraplegia 62 def: "Autosomal recessive spastic paraplegia type 62 is a pure or complex form of hereditary spastic paraplegia characterized by an onset in the first decade of life of spastic paraperesis (more prominent in lower than upper extremities) and unsteady gait, as well as increased deep tendon reflexes, amyotrophy, cerebellar ataxia, and flexion contractures of the knees, in some." [Orphanet:401785] subset: ordo_disease {source="Orphanet:401785"} +synonym: "autosomal recessive pure spastic paraplegia caused by mutation in ERLIN1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 62" EXACT [DOID:0110813] synonym: "autosomal recessive spastic paraplegia type 62" EXACT [DOID:0110813] +synonym: "ERLIN1 autosomal recessive pure spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 62" EXACT [DOID:0110813, MONDORULE:2] synonym: "spastic paraplegia 62, autosomal recessive" EXACT [OMIM:615681] synonym: "spastic paraplegia 62, autosomal recessive; SPG62" RELATED [OMIM:615681] @@ -278595,7 +283013,7 @@ xref: OMIM:615681 {source="ORDO:401785/e", source="Orphanet:401785", source="DOI xref: Orphanet:401785 {source="DOID:0110813", source="MONDO:equivalentTo"} xref: UMLS:C4284588 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015090 {source="Orphanet:401785"} ! autosomal recessive pure spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:615681", source="Orphanet:401785/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110813", source="MONDO:Redundant", source="OMIM:615681", source="Orphanet:401785/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015090 ! autosomal recessive pure spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16947 ! ERLIN1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16947 {source="mim2gene_medgen"} ! ERLIN1 @@ -278606,8 +283024,10 @@ id: MONDO:0014303 name: hereditary spastic paraplegia 64 def: "gene (10q24.1), encoding ectonucleoside triphosphate diphosphohydrolase 1." [Orphanet:401810] subset: ordo_disease {source="Orphanet:401810"} +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ENTPD1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 64" EXACT [DOID:0110815] synonym: "autosomal recessive spastic paraplegia type 64" EXACT [DOID:0110815] +synonym: "ENTPD1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 64" EXACT [DOID:0110815, MONDORULE:2] synonym: "spastic paraplegia 64, autosomal recessive" RELATED [MONDO:Lexical, OMIM:615683] synonym: "spastic paraplegia 64, autosomal recessive; SPG64" RELATED [OMIM:615683] @@ -278619,7 +283039,7 @@ xref: Orphanet:401810 {source="DOID:0110815", source="MONDO:equivalentTo", sourc xref: UMLS:C3810289 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo", source="OMIM:615683"} xref: UMLS:C4511960 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401810"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:615683", source="Orphanet:401810/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110815", source="MONDO:Redundant", source="OMIM:615683", source="Orphanet:401810/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3363 ! ENTPD1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3363 {source="mim2gene_medgen"} ! ENTPD1 @@ -278630,6 +283050,8 @@ id: MONDO:0014304 name: hereditary spastic paraplegia 61 def: "gene (16p12-p11.2) encoding the ADP-ribosylation factor-like protein 6-interacting protein 1." [Orphanet:401780] subset: ordo_disease {source="Orphanet:401780"} +synonym: "ARL6IP1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ARL6IP1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 61" EXACT [DOID:0110812] synonym: "autosomal recessive spastic paraplegia type 61" EXACT [DOID:0110812] synonym: "hereditary spastic paraplegia type 61" EXACT [DOID:0110812, MONDORULE:2] @@ -278643,7 +283065,7 @@ xref: Orphanet:401780 {source="DOID:0110812", source="OMIM:615685", source="MOND xref: UMLS:C3810294 {source="NCBI:mim2gene_medline", source="OMIM:615685", source="MONDO:equivalentTo"} xref: UMLS:C4511962 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401780"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:615685", source="Orphanet:401780/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110812", source="MONDO:Redundant", source="OMIM:615685", source="Orphanet:401780/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/697 ! ARL6IP1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/697 {source="mim2gene_medgen"} ! ARL6IP1 @@ -278654,6 +283076,8 @@ id: MONDO:0014305 name: hereditary spastic paraplegia 63 def: "gene (1p13.3) encoding AMP deaminase 2." [Orphanet:401805] subset: ordo_disease {source="Orphanet:401805"} +synonym: "AMPD2 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in AMPD2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 63" EXACT [DOID:0110814] synonym: "autosomal recessive spastic paraplegia type 63" RELATED [Orphanet:401805] synonym: "hereditary spastic paraplegia type 63" EXACT [DOID:0110814, MONDORULE:2] @@ -278667,7 +283091,7 @@ xref: OMIM:615686 {source="ORDO:401805/e", source="DOID:0110814", source="MONDO: xref: Orphanet:401805 {source="OMIM:615686", source="DOID:0110814", source="MONDO:equivalentTo"} xref: UMLS:C3810295 {source="NCBI:mim2gene_medline", source="OMIM:615686", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:401805"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:615686", source="Orphanet:401805/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110814", source="MONDO:Redundant", source="OMIM:615686", source="Orphanet:401805/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/469 ! AMPD2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/469 {source="mim2gene_medgen"} ! AMPD2 @@ -278705,7 +283129,9 @@ def: "Any Dowling-Degos disease in which the cause of the disease is a mutation synonym: "DDD4" RELATED [MONDO:Lexical, OMIM:615696] synonym: "Dowling-Degos disease 4" EXACT [MONDO:Lexical, OMIM:615696] synonym: "Dowling-Degos disease 4; DDD4" RELATED [OMIM:615696] +synonym: "Dowling-Degos disease caused by mutation in POGLUT1" EXACT [MONDO:design_pattern] synonym: "Dowling-Degos disease type 4" EXACT [MONDORULE:1, OMIM:615696] +synonym: "POGLUT1 Dowling-Degos disease" EXACT [MONDO:design_pattern] xref: OMIM:615696 {source="MONDO:equivalentTo"} xref: Orphanet:79145 {source="MONDO:subClassOf", source="OMIM:615696"} xref: UMLS:C3810313 {source="NCBI:mim2gene_medline", source="OMIM:615696", source="MONDO:equivalentTo"} @@ -278775,9 +283201,11 @@ id: MONDO:0014311 name: autosomal recessive spinocerebellar ataxia 15 def: "Any autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome in which the cause of the disease is a mutation in the RUBCN gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:404499"} +synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome caused by mutation in RUBCN" EXACT [MONDO:design_pattern] synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to KIAA0226 deficiency" RELATED [Orphanet:404499] synonym: "autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency" RELATED [Orphanet:404499] synonym: "autosomal recessive spinocerebellar ataxia type 15" EXACT [DOID:0080057, MONDORULE:2, Orphanet:404499] +synonym: "RUBCN autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome" EXACT [MONDO:design_pattern] synonym: "Salih ataxia" RELATED [OMIM:615705] synonym: "SCAR15" EXACT [MONDO:Lexical, OMIM:615705, Orphanet:404499] synonym: "spinocerebellar ataxia, autosomal recessive 15" RELATED [MONDO:Lexical, OMIM:615705] @@ -278864,9 +283292,11 @@ synonym: "Alzheimer disease 19" EXACT [DOID:0110051, MONDO:Lexical, OMIM:615711] synonym: "Alzheimer disease 19 late onset" EXACT [DOID:0110051] synonym: "Alzheimer disease 19, late-onset" RELATED [OMIM:615711] synonym: "Alzheimer disease 19; AD19" RELATED [OMIM:615711] +synonym: "Alzheimer disease caused by mutation in PLD3" EXACT [MONDO:design_pattern] synonym: "Alzheimer disease type 19" EXACT [MONDORULE:2, OMIM:615711] synonym: "Alzheimer's disease 19" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] synonym: "Alzheimer's disease type 19" EXACT [DOID:0110051, MONDORULE:2] +synonym: "PLD3 Alzheimer disease" EXACT [MONDO:design_pattern] xref: DOID:0110051 {source="MONDO:equivalentTo"} xref: OMIM:615711 {source="DOID:0110051", source="MONDO:equivalentTo"} xref: UMLS:C3810349 {source="OMIM:615711", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -278903,6 +283333,8 @@ synonym: "HPMRS4" RELATED [MONDO:Lexical, OMIM:615716] synonym: "hyperphosphatasia with mental retardation syndrome 4" EXACT [MONDO:Lexical, OMIM:615716] synonym: "hyperphosphatasia with mental retardation syndrome 4; HPMRS4" RELATED [OMIM:615716] synonym: "hyperphosphatasia with mental retardation syndrome type 4" EXACT [MONDORULE:1, OMIM:615716] +synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PGAP3" EXACT [MONDO:design_pattern] +synonym: "PGAP3 hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern] xref: OMIM:615716 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="MONDO:subClassOf", source="OMIM:615716"} xref: UMLS:C3810354 {source="NCBI:mim2gene_medline", source="OMIM:615716", source="MONDO:equivalentTo"} @@ -278954,6 +283386,8 @@ synonym: "POF8" RELATED [MONDO:Lexical, OMIM:615723] synonym: "premature ovarian failure 8" EXACT [MONDO:Lexical, OMIM:615723] synonym: "premature ovarian failure 8; POF8" RELATED [OMIM:615723] synonym: "premature ovarian failure type 8" EXACT [MONDORULE:1, OMIM:615723] +synonym: "primary ovarian failure caused by mutation in STAG3" EXACT [MONDO:design_pattern] +synonym: "STAG3 primary ovarian failure" EXACT [MONDO:design_pattern] xref: OMIM:615723 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:615723"} xref: UMLS:C3810367 {source="NCBI:mim2gene_medline", source="OMIM:615723", source="MONDO:equivalentTo"} @@ -278968,10 +283402,12 @@ property_value: confidence "2.3325714285714296" xsd:double id: MONDO:0014322 name: premature ovarian failure 9 def: "Any primary ovarian failure in which the cause of the disease is a mutation in the HFM1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HFM1 primary ovarian failure" EXACT [MONDO:design_pattern] synonym: "Pof9" RELATED [MONDO:Lexical, OMIM:615724] synonym: "premature ovarian failure 9" EXACT [MONDO:Lexical, OMIM:615724] synonym: "premature ovarian failure 9; Pof9" RELATED [OMIM:615724] synonym: "premature ovarian failure type 9" EXACT [MONDORULE:1, OMIM:615724] +synonym: "primary ovarian failure caused by mutation in HFM1" EXACT [MONDO:design_pattern] xref: OMIM:615724 {source="MONDO:equivalentTo"} xref: Orphanet:619 {source="OMIM:615724"} xref: UMLS:C3810376 {source="NCBI:mim2gene_medline", source="OMIM:615724", source="MONDO:equivalentTo"} @@ -278988,8 +283424,10 @@ name: retinitis pigmentosa 68 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the SLC7A14 gene." [MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 68" EXACT [MONDO:Lexical, OMIM:615725] synonym: "retinitis pigmentosa 68; RP68" RELATED [OMIM:615725] +synonym: "retinitis pigmentosa caused by mutation in SLC7A14" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 68" EXACT [DOID:0110374, MONDORULE:2, OMIM:615725] synonym: "RP68" EXACT [DOID:0110374, MONDO:Lexical, OMIM:615725] +synonym: "SLC7A14 retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110374 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110374", source="MONDO:relatedTo"} xref: OMIM:615725 {source="DOID:0110374", source="MONDO:equivalentTo"} @@ -279003,8 +283441,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29 id: MONDO:0014324 name: pachyonychia congenita 3 def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KRT6A pachyonychia congenita" EXACT [MONDO:design_pattern] synonym: "pachyonychia congenita 3" EXACT [MONDO:Lexical, OMIM:615726] synonym: "pachyonychia congenita 3; PC3" RELATED [OMIM:615726] +synonym: "pachyonychia congenita caused by mutation in KRT6A" EXACT [MONDO:design_pattern] synonym: "pachyonychia congenita type 3" EXACT [MONDORULE:1, OMIM:615726] synonym: "PC3" RELATED [MONDO:Lexical, OMIM:615726] xref: OMIM:615726 {source="MONDO:equivalentTo"} @@ -279020,8 +283460,10 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0014325 name: pachyonychia congenita 4 def: "Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KRT6B pachyonychia congenita" EXACT [MONDO:design_pattern] synonym: "pachyonychia congenita 4" EXACT [MONDO:Lexical, OMIM:615728] synonym: "pachyonychia congenita 4; PC4" RELATED [OMIM:615728] +synonym: "pachyonychia congenita caused by mutation in KRT6B" EXACT [MONDO:design_pattern] synonym: "pachyonychia congenita type 4" EXACT [MONDORULE:1, OMIM:615728] synonym: "PC4" RELATED [MONDO:Lexical, OMIM:615728] xref: OMIM:615728 {source="MONDO:equivalentTo"} @@ -279037,9 +283479,11 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0014326 name: nemaline myopathy 9 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the KLHL41 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KLHL41 nemaline myopathy" EXACT [MONDO:design_pattern] synonym: "NEM9" EXACT [DOID:0110929, MONDO:Lexical, OMIM:615731] synonym: "nemaline myopathy 9" EXACT [MONDO:Lexical, OMIM:615731] synonym: "nemaline MYOPATHY 9; NEM9" RELATED [OMIM:615731] +synonym: "nemaline myopathy caused by mutation in KLHL41" EXACT [MONDO:design_pattern] synonym: "nemaline Myopathy type 9" EXACT [MONDORULE:1, OMIM:615731] synonym: "nemaline myopathy type 9" EXACT [DOID:0110929, MONDORULE:1] xref: DOID:0110929 {source="MONDO:equivalentTo"} @@ -279050,7 +283494,7 @@ is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myo is_a: MONDO:0015736 {source="ORDO:171433/btnt"} ! intermediate nemaline myopathy is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy is_a: MONDO:0015738 {source="ORDO:171439/btnt"} ! childhood-onset nemaline myopathy -is_a: MONDO:0018958 {source="MONDO:Redundant", source="OMIM:615731"} ! nemaline myopathy +is_a: MONDO:0018958 {source="DOID:0110929", source="MONDO:Redundant", source="OMIM:615731"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16905 ! KLHL41 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16905 {source="mim2gene_medgen"} ! KLHL41 @@ -279076,16 +283520,18 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014328 name: epileptic encephalopathy, early infantile, 19 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRA1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in GABRA1" EXACT [MONDO:design_pattern] synonym: "EIEE19" RELATED [MONDO:Lexical, OMIM:615744] synonym: "epileptic encephalopathy, early infantile, 19" EXACT [MONDO:Lexical, OMIM:615744] synonym: "epileptic encephalopathy, early infantile, 19; EIEE19" RELATED [OMIM:615744] synonym: "epileptic encephalopathy, early infantile, type 19" EXACT [MONDORULE:2, OMIM:615744] +synonym: "GABRA1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: NCIT:C142802 {source="MONDO:equivalentTo"} xref: OMIM:615744 {source="MONDO:equivalentTo"} xref: Orphanet:33069 {source="OMIM:615744", source="MONDO:subClassOf"} xref: UMLS:C3810400 {source="OMIM:615744", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0011794 {source="ORDO:33069/btnt"} ! Dravet syndrome -is_a: MONDO:0016021 {source="MONDO:Redundant", source="OMIM:615744"} ! early infantile epileptic encephalopathy +is_a: MONDO:0016021 {source="MONDO:Redundant", source="NCIT:C142802", source="OMIM:615744"} ! early infantile epileptic encephalopathy intersection_of: MONDO:0016021 ! early infantile epileptic encephalopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4075 ! GABRA1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4075 {source="mim2gene_medgen"} ! GABRA1 @@ -279098,9 +283544,11 @@ def: "Any atrial standstill in which the cause of the disease is a mutation in t synonym: "atrial dilation and standstill" RELATED [OMIM:615745] synonym: "atrial standstill 2" EXACT [MONDO:Lexical, OMIM:615745] synonym: "atrial standstill 2; ATRST2" RELATED [OMIM:615745] +synonym: "atrial standstill caused by mutation in NPPA" EXACT [MONDO:design_pattern] synonym: "atrial standstill type 2" EXACT [MONDORULE:1, OMIM:615745] synonym: "ATRST2" RELATED [MONDO:Lexical, OMIM:615745] synonym: "cardiomyopathy, atrial dilated, with atrial standstill" RELATED [OMIM:615745] +synonym: "NPPA atrial standstill" EXACT [MONDO:design_pattern] xref: OMIM:615745 {source="MONDO:equivalentTo"} xref: Orphanet:1344 {source="OMIM:615745", source="MONDO:subClassOf"} xref: UMLS:C3810401 {source="NCBI:mim2gene_medline", source="OMIM:615745", source="MONDO:equivalentTo"} @@ -279239,10 +283687,12 @@ id: MONDO:0014337 name: complex cortical dysplasia with other brain malformations 5 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB2A gene." [MONDO:patterns/disease_series_by_gene] synonym: "CDCBM5" EXACT [DOID:0090135, MONDO:Lexical, OMIM:615763] +synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB2A" EXACT [MONDO:design_pattern] synonym: "complex cortical dysplasia with other brain malformations type 5" EXACT [DOID:0090135, MONDORULE:1] synonym: "cortical dysplasia, complex, with other brain malformations 5" RELATED [MONDO:Lexical, OMIM:615763] synonym: "cortical dysplasia, complex, with other brain malformations 5; CDCBM5" RELATED [OMIM:615763] synonym: "cortical dysplasia, Complex, with Other brain malformations type 5" EXACT [MONDORULE:1, OMIM:615763] +synonym: "TUBB2A complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern] xref: DOID:0090135 {source="MONDO:equivalentTo"} xref: OMIM:615763 {source="DOID:0090135", source="MONDO:equivalentTo"} xref: UMLS:C3810407 {source="NCBI:mim2gene_medline", source="OMIM:615763", source="MONDO:equivalentTo"} @@ -279277,6 +283727,7 @@ id: MONDO:0014339 name: autosomal recessive spinocerebellar ataxia 16 def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the STUB1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:412057"} +synonym: "autosomal recessive cerebellar ataxia caused by mutation in STUB1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive cerebellar ataxia due to STUB1 deficiency" RELATED [Orphanet:412057] synonym: "autosomal recessive spinocerebellar ataxia type 16" EXACT [DOID:0080029, MONDORULE:2] synonym: "SCAR16" EXACT [MONDO:Lexical, OMIM:615768, Orphanet:412057] @@ -279284,6 +283735,7 @@ synonym: "spinocerebellar ataxia autosomal recessive type 16" EXACT [Orphanet:41 synonym: "spinocerebellar ataxia, autosomal recessive 16" RELATED [MONDO:Lexical, OMIM:615768] synonym: "spinocerebellar ataxia, autosomal recessive 16; SCAR16" RELATED [OMIM:615768] synonym: "spinocerebellar ataxia, autosomal recessive type 16" EXACT [MONDORULE:2, OMIM:615768] +synonym: "STUB1 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern] xref: DOID:0080029 {source="MONDO:equivalentTo"} xref: ICD10:G11.1 {source="ORDO:412057/ntbt", source="ORDO:412057/attributed", source="Orphanet:412057"} xref: OMIM:615768 {source="ORDO:412057/e", source="Orphanet:412057", source="DOID:0080029", source="MONDO:equivalentTo"} @@ -279303,6 +283755,8 @@ synonym: "ATFB15" RELATED [MONDO:Lexical, OMIM:615770] synonym: "atrial fibrillation, familial, 15" EXACT [MONDO:Lexical, OMIM:615770] synonym: "atrial fibrillation, familial, 15; ATFB15" RELATED [OMIM:615770] synonym: "atrial fibrillation, familial, type 15" EXACT [MONDORULE:2, OMIM:615770] +synonym: "familial atrial fibrillation caused by mutation in NUP155" EXACT [MONDO:design_pattern] +synonym: "NUP155 familial atrial fibrillation" EXACT [MONDO:design_pattern] xref: OMIM:615770 {source="MONDO:equivalentTo"} xref: Orphanet:334 {source="MONDO:subClassOf", source="OMIM:615770"} xref: UMLS:C4014269 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -279318,10 +283772,12 @@ name: complex cortical dysplasia with other brain malformations 6 def: "Any complex cortical dysplasia with other brain malformations in which the cause of the disease is a mutation in the TUBB gene." [MONDO:patterns/disease_series_by_gene] synonym: "CDCBM56" EXACT [DOID:0090136] synonym: "CDCBM6" RELATED [MONDO:Lexical, OMIM:615771] +synonym: "complex cortical dysplasia with other brain malformations caused by mutation in TUBB" EXACT [MONDO:design_pattern] synonym: "complex cortical dysplasia with other brain malformations type 6" EXACT [DOID:0090136, MONDORULE:1] synonym: "cortical dysplasia, complex, with other brain malformations 6" RELATED [MONDO:Lexical, OMIM:615771] synonym: "cortical dysplasia, complex, with other brain malformations 6; CDCBM6" RELATED [OMIM:615771] synonym: "cortical dysplasia, Complex, with Other brain malformations type 6" EXACT [MONDORULE:1, OMIM:615771] +synonym: "TUBB complex cortical dysplasia with other brain malformations" EXACT [MONDO:design_pattern] xref: DOID:0090136 {source="MONDO:equivalentTo"} xref: OMIM:615771 {source="DOID:0090136", source="MONDO:equivalentTo"} xref: UMLS:C4014283 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -279358,7 +283814,9 @@ def: "Any Desbuquois dysplasia in which the cause of the disease is a mutation i synonym: "DBQD2" RELATED [MONDO:Lexical, OMIM:615777] synonym: "Desbuquois dysplasia 2" EXACT [MONDO:Lexical, OMIM:615777] synonym: "Desbuquois dysplasia 2; DBQD2" RELATED [OMIM:615777] +synonym: "Desbuquois dysplasia caused by mutation in XYLT1" EXACT [MONDO:design_pattern] synonym: "Desbuquois dysplasia type 2" EXACT [MONDORULE:1, OMIM:615777] +synonym: "XYLT1 Desbuquois dysplasia" EXACT [MONDO:design_pattern] xref: OMIM:615777 {source="MONDO:equivalentTo"} xref: Orphanet:1425 {source="OMIM:615777", source="MONDO:subClassOf"} xref: UMLS:C4014294 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -279373,8 +283831,10 @@ id: MONDO:0014344 name: congenital heart defects, multiple types, 4 def: "Any congenital heart defects, multiple types in which the cause of the disease is a mutation in the NR2F2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CHTD4" RELATED [MONDO:Lexical, OMIM:615779] +synonym: "congenital heart defects, multiple types caused by mutation in NR2F2" EXACT [MONDO:design_pattern] synonym: "congenital heart defects, multiple types, 4" EXACT [MONDO:Lexical, OMIM:615779] synonym: "congenital heart defects, multiple types, 4; CHTD4" RELATED [OMIM:615779] +synonym: "NR2F2 congenital heart defects, multiple types" EXACT [MONDO:design_pattern] xref: OMIM:615779 {source="MONDO:equivalentTo"} xref: Orphanet:98722 {source="OMIM:615779", source="MONDO:subClassOf"} xref: UMLS:C4014310 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -279390,8 +283850,10 @@ property_value: confidence "0.0" xsd:double id: MONDO:0014345 name: retinitis pigmentosa 69 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the KIZ gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KIZ retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 69" EXACT [MONDO:Lexical, OMIM:615780] synonym: "retinitis pigmentosa 69; RP69" RELATED [OMIM:615780] +synonym: "retinitis pigmentosa caused by mutation in KIZ" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 69" EXACT [DOID:0110410, MONDORULE:2, OMIM:615780] synonym: "RP69" EXACT [DOID:0110410, MONDO:Lexical, OMIM:615780] xref: DOID:0110410 {source="MONDO:equivalentTo"} @@ -279430,11 +283892,13 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14 id: MONDO:0014348 name: intellectual disability, autosomal recessive 42 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the PGAP1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in PGAP1" EXACT [MONDO:design_pattern] synonym: "glycosylphosphatidylinositol biosynthesis defect 9" RELATED [OMIM:615802] synonym: "mental retardation, autosomal recessive 42" RELATED [MONDO:Lexical, OMIM:615802] synonym: "mental retardation, autosomal recessive 42; MRT42" RELATED [OMIM:615802] synonym: "mental retardation, autosomal recessive type 42" EXACT [MONDORULE:2, OMIM:615802] synonym: "MRT42" RELATED [MONDO:Lexical, OMIM:615802] +synonym: "PGAP1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] xref: OMIM:615802 {source="MONDO:equivalentTo"} xref: UMLS:C4014343 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019502 {source="DC-OMIM:615802", source="OMIM:615802"} ! autosomal recessive non-syndromic intellectual disability @@ -279448,7 +283912,9 @@ id: MONDO:0014349 name: pontocerebellar hypoplasia type 10 def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the CLP1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_malformation_syndrome {source="Orphanet:411493"} +synonym: "CLP1 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern] synonym: "CLP1-related pontocerebellar hypoplasia" EXACT [Orphanet:411493] +synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in CLP1" EXACT [MONDO:design_pattern] synonym: "PCH10" EXACT [MONDO:Lexical, OMIM:615803, Orphanet:411493] synonym: "pontocerebellar hypoplasia, type 10" RELATED [MONDO:Lexical, OMIM:615803] synonym: "pontocerebellar hypoplasia, type 10; PCH10" RELATED [OMIM:615803] @@ -279467,9 +283933,11 @@ property_value: confidence "229.0000000000029" xsd:double id: MONDO:0014350 name: Seckel syndrome 8 def: "Any Seckel syndrome in which the cause of the disease is a mutation in the DNA2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DNA2 Seckel syndrome" EXACT [MONDO:design_pattern] synonym: "SCKL8" EXACT [DOID:0070009, MONDO:Lexical, OMIM:615807] synonym: "Seckel syndrome 8" EXACT [MONDO:Lexical, OMIM:615807] synonym: "Seckel syndrome 8; SCKL8" RELATED [OMIM:615807] +synonym: "Seckel syndrome caused by mutation in DNA2" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 8" EXACT [MONDORULE:1, OMIM:615807] xref: DOID:0070009 {source="MONDO:equivalentTo"} xref: OMIM:615807 {source="DOID:0070009", source="MONDO:equivalentTo"} @@ -279486,6 +283954,8 @@ id: MONDO:0014351 name: pontocerebellar hypoplasia type 9 def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the AMPD2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_malformation_syndrome {source="Orphanet:369920"} +synonym: "AMPD2 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern] +synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in AMPD2" EXACT [MONDO:design_pattern] synonym: "PCH9" EXACT [MONDO:Lexical, OMIM:615809, Orphanet:369920] synonym: "pontocerebellar hypoplasia, type 9" RELATED [MONDO:Lexical, OMIM:615809] synonym: "pontocerebellar hypoplasia, type 9; PCH9" RELATED [OMIM:615809] @@ -279509,6 +283979,8 @@ synonym: "abdominal obesity-metabolic syndrome 3; AOMS3" RELATED [OMIM:615812] synonym: "abdominal obesity-metabolic syndrome type 3" EXACT [DOID:0060612, MONDORULE:1, OMIM:615812] synonym: "AOMS3" RELATED [MONDO:Lexical, OMIM:615812] synonym: "central obesity, type 2 diabetes, hypertension, and early-onset coronary artery disease" RELATED [OMIM:615812] +synonym: "DYRK1B metabolic syndrome" EXACT [MONDO:design_pattern] +synonym: "metabolic syndrome caused by mutation in DYRK1B" EXACT [MONDO:design_pattern] xref: DOID:0060612 {source="MONDO:equivalentTo"} xref: OMIM:615812 {source="DOID:0060612", source="MONDO:equivalentTo"} xref: UMLS:C4014361 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -279550,10 +284022,12 @@ property_value: confidence "0.012500000000000178" xsd:double id: MONDO:0014354 name: intellectual disability, autosomal recessive 43 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the WASHC4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in WASHC4" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 43" RELATED [MONDO:Lexical, OMIM:615817] synonym: "mental retardation, autosomal recessive 43; MRT43" RELATED [OMIM:615817] synonym: "mental retardation, autosomal recessive type 43" EXACT [MONDORULE:2, OMIM:615817] synonym: "MRT43" RELATED [MONDO:Lexical, OMIM:615817] +synonym: "WASHC4 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] xref: OMIM:615817 {source="MONDO:equivalentTo"} xref: UMLS:C4014386 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019502 {source="DC-OMIM:615817", source="OMIM:615817"} ! autosomal recessive non-syndromic intellectual disability @@ -279581,14 +284055,16 @@ name: mitochondrial complex III deficiency nuclear type 7 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "MC3DN7" RELATED [MONDO:Lexical, OMIM:615824] synonym: "mitochondrial Complex 3 deficiency, nuclear type 7" RELATED [OMIM:615824] +synonym: "mitochondrial complex III deficiency caused by mutation in UQCC2" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 7" RELATED [MONDO:Lexical, OMIM:615824] synonym: "mitochondrial complex III deficiency, nuclear type 7; MC3DN7" RELATED [OMIM:615824] +synonym: "UQCC2 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern] xref: DOID:0080116 {source="MONDO:equivalentTo"} xref: OMIM:615824 {source="DOID:0080116", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="OMIM:615824", source="MONDO:subClassOf"} xref: UMLS:C4014408 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615824"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080116", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21237 ! UQCC2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21237 {source="mim2gene_medgen"} ! UQCC2 @@ -279600,6 +284076,8 @@ name: intellectual disability, autosomal dominant 24 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DEAF1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 24" EXACT [DOID:0070054] synonym: "autosomal dominant non-syndromic intellectual disability 24" RELATED [DOID:0070054] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DEAF1" EXACT [MONDO:design_pattern] +synonym: "DEAF1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 24" RELATED [MONDO:Lexical, OMIM:615828] synonym: "mental retardation, autosomal dominant 24; MRD24" RELATED [OMIM:615828] synonym: "mental retardation, autosomal dominant type 24" EXACT [MONDORULE:2, OMIM:615828] @@ -279644,6 +284122,8 @@ synonym: "pigmented nodular adrenocortical disease, primary, 4" EXACT [MONDO:Lex synonym: "pigmented nodular adrenocortical disease, primary, 4; PPNAD4" RELATED [OMIM:615830] synonym: "pigmented nodular adrenocortical disease, primary, type 4" EXACT [MONDORULE:1, OMIM:615830] synonym: "PPNAD4" RELATED [MONDO:Lexical, OMIM:615830] +synonym: "primary pigmented nodular adrenocortical disease caused by mutation in PRKACA" EXACT [MONDO:design_pattern] +synonym: "PRKACA primary pigmented nodular adrenocortical disease" EXACT [MONDO:design_pattern] xref: OMIM:615830 {source="MONDO:equivalentTo"} xref: Orphanet:423668 {source="OMIM:615830"} xref: UMLS:C4014425 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -279657,10 +284137,12 @@ property_value: confidence "5.0" xsd:double id: MONDO:0014360 name: epileptic encephalopathy, early infantile, 21 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the NECAP1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in NECAP1" EXACT [MONDO:design_pattern] synonym: "EIEE21" RELATED [MONDO:Lexical, OMIM:615833] synonym: "epileptic encephalopathy, early infantile, 21" EXACT [MONDO:Lexical, OMIM:615833] synonym: "epileptic encephalopathy, early infantile, 21; EIEE21" RELATED [OMIM:615833] synonym: "epileptic encephalopathy, early infantile, type 21" EXACT [MONDORULE:2, OMIM:615833] +synonym: "NECAP1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:615833 {source="MONDO:equivalentTo"} xref: UMLS:C4014430 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:615833", source="OMIM:615833"} ! early infantile epileptic encephalopathy @@ -279710,11 +284192,13 @@ id: MONDO:0014363 name: autosomal recessive nonsyndromic deafness 101 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the GRXCR2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 101" EXACT [DOID:0110462] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in GRXCR2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 101" EXACT [DOID:0110462, MONDORULE:2] synonym: "deafness, autosomal recessive 101" RELATED [MONDO:Lexical, OMIM:615837] synonym: "deafness, autosomal recessive 101; DFNB101" RELATED [OMIM:615837] synonym: "deafness, autosomal recessive type 101" EXACT [MONDORULE:2, OMIM:615837] synonym: "DFNB101" EXACT [DOID:0110462, MONDO:Lexical, OMIM:615837] +synonym: "GRXCR2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110462 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110462"} xref: OMIM:615837 {source="DOID:0110462", source="MONDO:equivalentTo"} @@ -279729,8 +284213,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/33 id: MONDO:0014364 name: mitochondrial complex III deficiency nuclear type 8 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the LYRM7 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "LYRM7 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern] synonym: "MC3DN8" RELATED [MONDO:Lexical, OMIM:615838] synonym: "mitochondrial Complex 3 deficiency, nuclear type 8" RELATED [OMIM:615838] +synonym: "mitochondrial complex III deficiency caused by mutation in LYRM7" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 8" RELATED [MONDO:Lexical, OMIM:615838] synonym: "mitochondrial complex III deficiency, nuclear type 8; MC3DN8" RELATED [OMIM:615838] xref: DOID:0080117 {source="MONDO:equivalentTo"} @@ -279738,7 +284224,7 @@ xref: OMIM:615838 {source="DOID:0080117", source="MONDO:equivalentTo"} xref: Orphanet:1460 {source="OMIM:615838", source="MONDO:subClassOf"} xref: UMLS:C4014440 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:615838"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080117", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28072 ! LYRM7 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28072 {source="mim2gene_medgen"} ! LYRM7 @@ -279748,10 +284234,12 @@ property_value: confidence "17.88808347074" xsd:double id: MONDO:0014365 name: spermatogenic failure 13 def: "Any azoospermia in which the cause of the disease is a mutation in the TAF4B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "azoospermia caused by mutation in TAF4B" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 13" EXACT [MONDO:Lexical, OMIM:615841] synonym: "spermatogenic failure 13; SPGF13" RELATED [OMIM:615841] synonym: "spermatogenic failure type 13" EXACT [MONDORULE:2, OMIM:615841] synonym: "SPGF13" RELATED [MONDO:Lexical, OMIM:615841] +synonym: "TAF4B azoospermia" EXACT [MONDO:design_pattern] xref: OMIM:615841 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:615841", source="MONDO:subClassOf"} xref: UMLS:C4014449 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -279766,10 +284254,12 @@ property_value: confidence "0.18928571428571428" xsd:double id: MONDO:0014366 name: spermatogenic failure 14 def: "Any azoospermia in which the cause of the disease is a mutation in the ZMYND15 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "azoospermia caused by mutation in ZMYND15" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 14" EXACT [MONDO:Lexical, OMIM:615842] synonym: "spermatogenic failure 14; SPGF14" RELATED [OMIM:615842] synonym: "spermatogenic failure type 14" EXACT [MONDORULE:2, OMIM:615842] synonym: "SPGF14" RELATED [MONDO:Lexical, OMIM:615842] +synonym: "ZMYND15 azoospermia" EXACT [MONDO:design_pattern] xref: OMIM:615842 {source="MONDO:equivalentTo"} xref: Orphanet:399805 {source="OMIM:615842", source="MONDO:subClassOf"} xref: UMLS:C4014454 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -279787,7 +284277,9 @@ def: "Any Aicardi-Goutieres syndrome in which the cause of the disease is a muta synonym: "AGS7" RELATED [MONDO:Lexical, OMIM:615846] synonym: "Aicardi-Goutieres syndrome 7" EXACT [MONDO:Lexical, OMIM:615846] synonym: "Aicardi-Goutieres syndrome 7; AGS7" RELATED [OMIM:615846] +synonym: "Aicardi-Goutieres syndrome caused by mutation in IFIH1" EXACT [MONDO:design_pattern] synonym: "Aicardi-Goutieres syndrome type 7" EXACT [MONDORULE:1, OMIM:615846] +synonym: "IFIH1 Aicardi-Goutieres syndrome" EXACT [MONDO:design_pattern] xref: OMIM:615846 {source="MONDO:equivalentTo"} xref: Orphanet:51 {source="OMIM:615846", source="MONDO:subClassOf"} xref: UMLS:C3888244 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -279838,9 +284330,11 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0014370 name: pontocerebellar hypoplasia type 2E def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the VPS53 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in VPS53" EXACT [MONDO:design_pattern] synonym: "PCH2E" RELATED [MONDO:Lexical, OMIM:615851] synonym: "pontocerebellar hypoplasia, type 2E" RELATED [MONDO:Lexical, OMIM:615851] synonym: "pontocerebellar hypoplasia, type 2E; PCH2E" RELATED [OMIM:615851] +synonym: "VPS53 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern] xref: DOID:0060271 {source="MONDO:equivalentTo"} xref: OMIM:615851 {source="DOID:0060271", source="MONDO:equivalentTo"} xref: Orphanet:247198 {source="OMIM:615851", source="MONDO:subClassOf"} @@ -279880,9 +284374,11 @@ name: cone-rod dystrophy 19 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the TTLL5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 19" EXACT [MONDO:Lexical, OMIM:615860] synonym: "cone-ROD dystrophy 19; CORD19" RELATED [OMIM:615860] +synonym: "cone-rod dystrophy caused by mutation in TTLL5" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 19" EXACT [MONDORULE:2, OMIM:615860] synonym: "cone-rod dystrophy type 19" EXACT [DOID:0111025, MONDORULE:2] synonym: "CORD19" EXACT [DOID:0111025, MONDO:Lexical, OMIM:615860] +synonym: "TTLL5 cone-rod dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0111025 {source="MONDO:equivalentTo"} xref: OMIM:615860 {source="DOID:0111025", source="MONDO:equivalentTo"} xref: UMLS:C4014501 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -279895,6 +284391,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19 id: MONDO:0014373 name: nephrotic syndrome, type 10 def: "Any nephrotic syndrome in which the cause of the disease is a mutation in the EMP2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "EMP2 nephrotic syndrome" EXACT [MONDO:design_pattern] +synonym: "nephrotic syndrome caused by mutation in EMP2" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 10" EXACT [MONDO:Lexical, OMIM:615861] synonym: "nephrotic syndrome, type 10; NPHS10" RELATED [OMIM:615861] synonym: "NPHS10" RELATED [MONDO:Lexical, OMIM:615861] @@ -279934,6 +284432,8 @@ def: "Congenital chronic diarrhea with protein-losing enteropathy is a rare, gen subset: ordo_disease {source="Orphanet:329242"} synonym: "congenital chronic diarrhea with exudative enteropathy" EXACT [DOID:0060778, Orphanet:329242] synonym: "congenital chronic diarrhea with protein-losing enteropathy" EXACT [DOID:0060778] +synonym: "congenital diarrhea caused by mutation in DGAT1" EXACT [MONDO:design_pattern] +synonym: "DGAT1 congenital diarrhea" EXACT [MONDO:design_pattern] synonym: "DIAR7" RELATED [MONDO:Lexical, OMIM:615863] synonym: "diarrhea 7" RELATED [MONDO:Lexical, OMIM:615863] synonym: "diarrhea 7; DIAR7" RELATED [OMIM:615863] @@ -279949,7 +284449,6 @@ is_a: MONDO:0019126 {source="Orphanet:329242"} ! intractable diarrhea of infancy intersection_of: MONDO:0000824 ! congenital diarrhea intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2843 ! DGAT1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2843 {source="mim2gene_medgen"} ! DGAT1 -property_value: confidence "5.500000000000006" xsd:double [Term] id: MONDO:0014376 @@ -279974,10 +284473,12 @@ property_value: confidence "1.258011707790705" xsd:double id: MONDO:0014377 name: epileptic encephalopathy, early infantile, 24 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the HCN1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in HCN1" EXACT [MONDO:design_pattern] synonym: "EIEE24" RELATED [MONDO:Lexical, OMIM:615871] synonym: "epileptic encephalopathy, early infantile, 24" EXACT [MONDO:Lexical, OMIM:615871] synonym: "epileptic encephalopathy, early infantile, 24; EIEE24" RELATED [OMIM:615871] synonym: "epileptic encephalopathy, early infantile, type 24" EXACT [MONDORULE:2, OMIM:615871] +synonym: "HCN1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:615871 {source="MONDO:equivalentTo"} xref: UMLS:C4014531 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:615871", source="OMIM:615871"} ! early infantile epileptic encephalopathy @@ -279991,12 +284492,14 @@ property_value: confidence "6.200000000000001" xsd:double id: MONDO:0014378 name: primary ciliary dyskinesia 29 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCNO gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CCNO primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "CILD29" EXACT [DOID:0110600, MONDO:Lexical, OMIM:615872] synonym: "ciliary dyskinesia, primary, 29" RELATED [MONDO:Lexical, OMIM:615872] synonym: "ciliary dyskinesia, primary, 29, without situs inversus" RELATED [OMIM:615872] synonym: "ciliary dyskinesia, primary, 29; CILD29" RELATED [OMIM:615872] synonym: "ciliary dyskinesia, primary, type 29" EXACT [MONDORULE:2, OMIM:615872] synonym: "primary ciliary dyskinesia 29 without situs inversus" EXACT [DOID:0110600] +synonym: "primary ciliary dyskinesia caused by mutation in CCNO" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 29" EXACT [DOID:0110600, MONDORULE:2] xref: DOID:0110600 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110600"} @@ -280068,6 +284571,8 @@ synonym: "cholestasis, progressive familial intrahepatic, 4; PFIC4" RELATED [OMI synonym: "cholestasis, progressive familial intrahepatic, type 4" EXACT [MONDORULE:1, OMIM:615878] synonym: "PFIC4" RELATED [MONDO:Lexical, OMIM:615878] synonym: "progressive familial intrahepatic cholestasis 4" RELATED [GARD:0009803] +synonym: "progressive familial intrahepatic cholestasis caused by mutation in TJP2" EXACT [MONDO:design_pattern] +synonym: "TJP2 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern] xref: GARD:0009803 {source="shared-umls-xref", source="MONDO:equivalentTo"} xref: OMIM:615878 {source="MONDO:equivalentTo"} xref: Orphanet:172 {source="OMIM:615878", source="MONDO:subClassOf"} @@ -280105,7 +284610,9 @@ def: "Any tubular aggregate myopathy in which the cause of the disease is a muta synonym: "myopathy, tubular aggregate, 2" EXACT [MONDO:Lexical, OMIM:615883] synonym: "MYOPATHY, tubular aggregate, 2; TAM2" RELATED [OMIM:615883] synonym: "Myopathy, tubular aggregate, type 2" EXACT [MONDORULE:1, OMIM:615883] +synonym: "ORAI1 tubular aggregate myopathy" EXACT [MONDO:design_pattern] synonym: "TAM2" RELATED [MONDO:Lexical, OMIM:615883] +synonym: "tubular aggregate myopathy caused by mutation in ORAI1" EXACT [MONDO:design_pattern] xref: OMIM:615883 {source="MONDO:equivalentTo"} xref: Orphanet:2593 {source="MONDO:subClassOf", source="OMIM:615883"} xref: UMLS:C4014557 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -280121,14 +284628,16 @@ name: hypotrichosis 12 def: "Any hypotrichosis in which the cause of the disease is a mutation in the RPL21 gene." [MONDO:patterns/disease_series_by_gene] synonym: "hypotrichosis 12" EXACT [MONDO:Lexical, OMIM:615885] synonym: "hypotrichosis 12; HYPT12" RELATED [OMIM:615885] +synonym: "hypotrichosis caused by mutation in RPL21" EXACT [MONDO:design_pattern] synonym: "hypotrichosis type 12" EXACT [DOID:0110709, MONDORULE:2, OMIM:615885] synonym: "HYPT12" RELATED [MONDO:Lexical, OMIM:615885] synonym: "Hypt12" EXACT [DOID:0110709] +synonym: "RPL21 hypotrichosis" EXACT [MONDO:design_pattern] xref: DOID:0110709 {source="MONDO:equivalentTo"} xref: OMIM:615885 {source="DOID:0110709", source="MONDO:equivalentTo"} xref: Orphanet:55654 {source="OMIM:615885", source="MONDO:subClassOf"} xref: UMLS:C4014563 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003037 {source="MONDO:Redundant", source="OMIM:615885"} ! hypotrichosis +is_a: MONDO:0003037 {source="DOID:0110709", source="MONDO:Redundant", source="OMIM:615885"} ! hypotrichosis is_a: MONDO:0018914 {source="ORDO:55654/btnt"} ! hypotrichosis simplex intersection_of: MONDO:0003037 ! hypotrichosis intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10313 ! RPL21 @@ -280140,10 +284649,12 @@ id: MONDO:0014385 name: amelogenesis imperfecta hypomaturation type 2A5 def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the SLC24A4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "AI2A5" EXACT [DOID:0110063, MONDO:Lexical, OMIM:615887] +synonym: "amelogenesis imperfecta caused by mutation in SLC24A4" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypomaturation type IIA5" EXACT [DOID:0110063] synonym: "amelogenesis imperfecta type IIA5" EXACT [DOID:0110063] synonym: "amelogenesis imperfecta, hypomaturation type, IIA5" RELATED [MONDO:Lexical, OMIM:615887] synonym: "amelogenesis imperfecta, hypomaturation type, IIA5; AI2A5" RELATED [OMIM:615887] +synonym: "SLC24A4 amelogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110063 {source="MONDO:equivalentTo"} xref: ICD10:K00.5 {source="DOID:0110063"} xref: OMIM:615887 {source="MONDO:equivalentTo", source="DOID:0110063"} @@ -280151,7 +284662,7 @@ xref: Orphanet:100033 {source="OMIM:615887", source="MONDO:subClassOf"} xref: UMLS:C4014578 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0015048 {source="MONDOLEX:0014385", source="ORDO:100033/btnt"} ! hypomaturation amelogenesis imperfecta -is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:615887"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="DOID:0110063", source="MONDO:Redundant", source="OMIM:615887"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10978 ! SLC24A4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10978 {source="mim2gene_medgen"} ! SLC24A4 @@ -280167,6 +284678,8 @@ synonym: "bleeding disorder due to calcium- and DAG-regulated guanine exchange f synonym: "bleeding disorder due to CalDAG-GEFI deficiency" EXACT [DOID:0111051] synonym: "bleeding disorder, PLATELET-type, 18" RELATED [MONDO:Lexical, OMIM:615888] synonym: "bleeding disorder, PLATELET-type, 18; BDPLT18" RELATED [OMIM:615888] +synonym: "inherited bleeding disorder, platelet-type caused by mutation in RASGRP2" EXACT [MONDO:design_pattern] +synonym: "RASGRP2 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern] xref: DOID:0111051 {source="MONDO:equivalentTo"} xref: ICD10:D69.1 {source="ORDO:420566/attributed", source="ORDO:420566/ntbt", source="Orphanet:420566", source="DOID:0111051"} xref: OMIM:615888 {source="ORDO:420566/e", source="Orphanet:420566", source="DOID:0111051", source="MONDO:equivalentTo"} @@ -280229,10 +284742,12 @@ name: hypotrichosis 13 def: "Any hypotrichosis in which the cause of the disease is a mutation in the KRT71 gene." [MONDO:patterns/disease_series_by_gene] synonym: "hypotrichosis 13" EXACT [MONDO:Lexical, OMIM:615896] synonym: "hypotrichosis 13; HYPT13" RELATED [OMIM:615896] +synonym: "hypotrichosis caused by mutation in KRT71" EXACT [MONDO:design_pattern] synonym: "hypotrichosis type 13" EXACT [DOID:0110710, MONDORULE:2, OMIM:615896] synonym: "hypotrichosis with woolly hair" EXACT [DOID:0110710, OMIM:615896] synonym: "HYPT13" RELATED [MONDO:Lexical, OMIM:615896] synonym: "Hypt13" EXACT [DOID:0110710] +synonym: "KRT71 hypotrichosis" EXACT [MONDO:design_pattern] xref: DOID:0110710 {source="MONDO:equivalentTo"} xref: OMIM:615896 {source="DOID:0110710", source="MONDO:equivalentTo"} xref: Orphanet:170 {source="OMIM:615896", source="MONDO:subClassOf"} @@ -280268,11 +284783,13 @@ name: epileptic encephalopathy, early infantile, 25 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC13A5 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0012901"} synonym: "early infantile epileptic encephalopathy 25" RELATED [GARD:0012901] +synonym: "early infantile epileptic encephalopathy caused by mutation in SLC13A5" EXACT [MONDO:design_pattern] synonym: "EIEE25" RELATED [MONDO:Lexical, OMIM:615905] synonym: "epileptic encephalopathy, early infantile, 25" EXACT [MONDO:Lexical, OMIM:615905] synonym: "epileptic encephalopathy, early infantile, 25; EIEE25" RELATED [OMIM:615905] synonym: "epileptic encephalopathy, early infantile, type 25" EXACT [MONDORULE:2, OMIM:615905] synonym: "SLC13A5 deficiency" RELATED [GARD:0012901] +synonym: "SLC13A5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: GARD:0012901 {source="MONDO:equivalentTo"} xref: OMIM:615905 {source="MONDO:equivalentTo"} xref: Orphanet:442835 {source="GARD:0012901", source="MONDO:subClassOf"} @@ -280289,10 +284806,12 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12901/early-i id: MONDO:0014393 name: lymphedema, hereditary, 1D def: "Any hereditary lymphedema in which the cause of the disease is a mutation in the VEGFC gene." [MONDO:patterns/disease_series_by_gene] +synonym: "hereditary lymphedema caused by mutation in VEGFC" EXACT [MONDO:design_pattern] synonym: "LMPH1D" RELATED [MONDO:Lexical, OMIM:615907] synonym: "lymphedema, hereditary, ID" RELATED [MONDO:Lexical, OMIM:615907] synonym: "lymphedema, hereditary, ID; LMPH1D" RELATED [OMIM:615907] synonym: "lymphedema, hereditary, type 1D" EXACT [MONDORULE:4, OMIM:615907] +synonym: "VEGFC hereditary lymphedema" EXACT [MONDO:design_pattern] xref: OMIM:615907 {source="MONDO:equivalentTo"} xref: Orphanet:79452 {source="MONDO:subClassOf", source="OMIM:615907"} xref: UMLS:C4014628 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -280309,7 +284828,9 @@ def: "Any Diamond-Blackfan anemia in which the cause of the disease is a mutatio synonym: "DBA13" RELATED [MONDO:Lexical, OMIM:615909] synonym: "Diamond-Blackfan anemia 13" EXACT [MONDO:Lexical, OMIM:615909] synonym: "DIAMOND-Blackfan ANEMIA 13; DBA13" RELATED [OMIM:615909] +synonym: "Diamond-Blackfan anemia caused by mutation in RPS29" EXACT [MONDO:design_pattern] synonym: "Diamond-Blackfan Anemia type 13" EXACT [MONDORULE:2, OMIM:615909] +synonym: "RPS29 Diamond-Blackfan anemia" EXACT [MONDO:design_pattern] xref: OMIM:615909 {source="MONDO:equivalentTo"} xref: Orphanet:124 {source="MONDO:subClassOf", source="OMIM:615909"} xref: UMLS:C4014641 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -280345,6 +284866,8 @@ synonym: "cardiomyopathy, dilated, 1NN; CMD1NN" RELATED [OMIM:615916] synonym: "cardiomyopathy, dilated, type 1Nn" EXACT [MONDORULE:9, OMIM:615916] synonym: "CMD1NN" EXACT [DOID:0110432, MONDO:Lexical, OMIM:615916] synonym: "dilated cardiomyopathy type 1NN" EXACT [DOID:0110432, MONDORULE:9] +synonym: "familial isolated dilated cardiomyopathy caused by mutation in RAF1" EXACT [MONDO:design_pattern] +synonym: "RAF1 familial isolated dilated cardiomyopathy" EXACT [MONDO:design_pattern] xref: DOID:0110432 {source="MONDO:equivalentTo"} xref: ICD10:I42.0 {source="DOID:0110432", source="MONDO:subClassOf"} xref: OMIM:615916 {source="DOID:0110432", source="MONDO:equivalentTo"} @@ -280363,8 +284886,10 @@ def: "Any combined oxidative phosphorylation deficiency in which the cause of th subset: ordo_disease {source="Orphanet:420728"} synonym: "combined oxidative phosphorylation deficiency 20" RELATED [MONDO:Lexical, OMIM:615917] synonym: "combined oxidative phosphorylation deficiency 20; COXPD20" RELATED [OMIM:615917] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in VARS2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 20" EXACT [MONDORULE:2, OMIM:615917] synonym: "COXPD20" EXACT [MONDO:Lexical, OMIM:615917, Orphanet:420728] +synonym: "VARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: ICD10:G31.8 {source="ORDO:420728/attributed", source="ORDO:420728/ntbt", source="Orphanet:420728"} xref: OMIM:615917 {source="ORDO:420728/e", source="MONDO:equivalentTo", source="Orphanet:420728"} xref: Orphanet:420728 {source="OMIM:615917", source="MONDO:equivalentTo"} @@ -280384,15 +284909,17 @@ def: "Combined oxidative phosphorylation defect type 21 is a rare mitochondrial subset: ordo_disease {source="Orphanet:420733"} synonym: "combined oxidative phosphorylation deficiency 21" RELATED [MONDO:Lexical, OMIM:615918] synonym: "combined oxidative phosphorylation deficiency 21; COXPD21" RELATED [OMIM:615918] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in TARS2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 21" EXACT [MONDORULE:2, OMIM:615918] synonym: "COXPD21" EXACT [MONDO:Lexical, OMIM:615918, Orphanet:420733] +synonym: "TARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: EFO:0009032 {source="MONDO:equivalentTo"} xref: ICD10:E88.8 {source="ORDO:420733/ntbt", source="Orphanet:420733", source="ORDO:420733/attributed"} xref: OMIM:615918 {source="Orphanet:420733", source="ORDO:420733/e", source="MONDO:equivalentTo"} xref: Orphanet:420733 {source="MONDO:equivalentTo", source="OMIM:615918"} xref: UMLS:C4014668 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:615918", source="OMIM:615918"} ! combined oxidative phosphorylation deficiency -is_a: MONDO:0018157 {source="Orphanet:420733"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis +is_a: MONDO:0018157 {source="EFO:0009032", source="Orphanet:420733"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis is_a: MONDO:0019058 {source="Orphanet:420733"} ! neurometabolic disease intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30740 ! TARS2 @@ -280425,8 +284952,10 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014400 name: retinitis pigmentosa 70 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the PRPF4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "PRPF4 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 70" EXACT [MONDO:Lexical, OMIM:615922] synonym: "retinitis pigmentosa 70; RP70" RELATED [OMIM:615922] +synonym: "retinitis pigmentosa caused by mutation in PRPF4" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 70" EXACT [DOID:0110392, MONDORULE:2, OMIM:615922] synonym: "RP70" EXACT [DOID:0110392, MONDO:Lexical, OMIM:615922] xref: DOID:0110392 {source="MONDO:equivalentTo"} @@ -280498,7 +285027,7 @@ synonym: "WEDAS" RELATED [MONDO:Lexical, OMIM:615926] xref: OMIM:615926 {source="MONDO:equivalentTo"} xref: Orphanet:370006 {source="OMIM:615926", source="MONDO:equivalentTo"} xref: UMLS:C4014708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0003847 {source="Orphanet:370006/inferred"} ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16876 {source="mim2gene_medgen"} ! ARNT2 [Term] @@ -280531,11 +285060,14 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12357/sting-a [Term] id: MONDO:0014406 name: pancreatic agenesis 2 +def: "Any pancreatic agenesis in which the cause of the disease is a mutation in the PTF1A gene." [MONDO:design_pattern] synonym: "PAGEN2" RELATED [MONDO:Lexical, OMIM:615935] synonym: "pancreatic agenesis 2" EXACT [MONDO:Lexical, OMIM:615935] synonym: "pancreatic agenesis 2; PAGEN2" RELATED [OMIM:615935] +synonym: "pancreatic agenesis caused by mutation in PTF1A" EXACT [MONDO:design_pattern] synonym: "pancreatic agenesis type 2" EXACT [MONDORULE:1, OMIM:615935] synonym: "pancreatic hypoplasia, congenital 2" RELATED [OMIM:615935] +synonym: "PTF1A pancreatic agenesis" EXACT [MONDO:design_pattern] xref: OMIM:615935 {source="MONDO:equivalentTo"} xref: Orphanet:2805 {source="OMIM:615935", source="MONDO:subClassOf"} xref: UMLS:C4014737 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -280549,9 +285081,11 @@ property_value: confidence "2.250000000000001" xsd:double id: MONDO:0014407 name: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the AKT3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AKT3 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2" EXACT [MONDO:Lexical, OMIM:615937] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2; MPPH2" RELATED [OMIM:615937] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 2" EXACT [MONDORULE:1, OMIM:615937] +synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in AKT3" EXACT [MONDO:design_pattern] synonym: "MPPH2" RELATED [MONDO:Lexical, OMIM:615937] xref: OMIM:615937 {source="MONDO:equivalentTo"} xref: Orphanet:83473 {source="OMIM:615937", source="MONDO:subClassOf"} @@ -280566,9 +285100,11 @@ property_value: confidence "2.941120607787275" xsd:double id: MONDO:0014408 name: megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3 def: "Any megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome in which the cause of the disease is a mutation in the CCND2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CCND2 megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome" EXACT [MONDO:design_pattern] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3" EXACT [MONDO:Lexical, OMIM:615938] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 3; MPPH3" RELATED [OMIM:615938] synonym: "megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome type 3" EXACT [MONDORULE:1, OMIM:615938] +synonym: "megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome caused by mutation in CCND2" EXACT [MONDO:design_pattern] synonym: "MPPH3" RELATED [MONDO:Lexical, OMIM:615938] xref: OMIM:615938 {source="MONDO:equivalentTo"} xref: Orphanet:83473 {source="OMIM:615938", source="MONDO:subClassOf"} @@ -280583,9 +285119,11 @@ property_value: confidence "2.941120607787275" xsd:double id: MONDO:0014409 name: intellectual disability, autosomal recessive 44 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the METTL23 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in METTL23" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 44" RELATED [MONDO:Lexical, OMIM:615942] synonym: "mental retardation, autosomal recessive 44; MRT44" RELATED [OMIM:615942] synonym: "mental retardation, autosomal recessive type 44" EXACT [MONDORULE:2, OMIM:615942] +synonym: "METTL23 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "MRT44" RELATED [MONDO:Lexical, OMIM:615942] xref: OMIM:615942 {source="MONDO:equivalentTo"} xref: UMLS:C4014745 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -280632,6 +285170,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 id: MONDO:0014412 name: hyperlipoproteinemia, type 1D def: "Any familial hyperlipidemia in which the cause of the disease is a mutation in the GPIHBP1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial hyperlipidemia caused by mutation in GPIHBP1" EXACT [MONDO:design_pattern] +synonym: "GPIHBP1 familial hyperlipidemia" EXACT [MONDO:design_pattern] synonym: "hyperlipoproteinemia, type ID" RELATED [OMIM:615947] xref: OMIM:615947 {source="MONDO:equivalentTo"} xref: Orphanet:411 {source="OMIM:615947"} @@ -280648,10 +285188,12 @@ id: MONDO:0014413 name: orofaciodigital syndrome type 14 def: "Orofaciodigital syndrome type 14 is a rare subtype of orofaciodigital syndrome, with autosomal recessive inheritance and C2CD3 mutations, characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux). Corpus callosum agenesis and vermis hypoplasia with molar tooth sign, on brain imaging, are also associated." [Orphanet:434179] subset: ordo_malformation_syndrome {source="Orphanet:434179"} +synonym: "C2CD3 orofaciodigital syndrome" EXACT [MONDO:design_pattern] synonym: "microcephaly-cerebral malformation-orofaciodigital syndrome" EXACT [Orphanet:434179] synonym: "OFD14" EXACT [MONDO:Lexical, OMIM:615948, Orphanet:434179] synonym: "oral-facial-digital syndrome type 14" EXACT [Orphanet:434179] synonym: "orofaciodigital syndrome 14" RELATED [OMIM:615948] +synonym: "orofaciodigital syndrome caused by mutation in C2CD3" EXACT [MONDO:design_pattern] synonym: "orofaciodigital syndrome type 14" EXACT [MONDORULE:2, OMIM:615948] synonym: "orofaciodigital syndrome XIV" RELATED [MONDO:Lexical, OMIM:615948] synonym: "orofaciodigital syndrome XIV; OFD14" RELATED [OMIM:615948] @@ -280706,15 +285248,20 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/63 [Term] id: MONDO:0014416 name: ACTH-independent macronodular adrenal hyperplasia 2 +def: "Any Cushing syndrome due to macronodular adrenal hyperplasia in which the cause of the disease is a mutation in the ARMC5 gene." [MONDO:design_pattern] synonym: "ACTH-independent macronodular adrenal hyperplasia 2" EXACT [MONDO:Lexical, OMIM:615954] synonym: "ACTH-independent macronodular adrenal hyperplasia 2; AIMAH2" RELATED [OMIM:615954] synonym: "ACTH-independent macronodular adrenal hyperplasia type 2" EXACT [MONDORULE:1, OMIM:615954] synonym: "AIMAH2" RELATED [MONDO:Lexical, OMIM:615954] +synonym: "ARMC5 Cushing syndrome due to macronodular adrenal hyperplasia" EXACT [MONDO:design_pattern] +synonym: "Cushing syndrome due to macronodular adrenal hyperplasia caused by mutation in ARMC5" EXACT [MONDO:design_pattern] synonym: "primary macronodular adrenal hyperplasia" RELATED [OMIM:615954] xref: OMIM:615954 {source="MONDO:equivalentTo"} xref: Orphanet:189427 {source="OMIM:615954", source="MONDO:subClassOf"} xref: UMLS:C4014803 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0009049 {source="MONDOLEX:0014416", source="ORDO:189427/btnt"} ! Cushing syndrome due to macronodular adrenal hyperplasia +intersection_of: MONDO:0009049 ! Cushing syndrome due to macronodular adrenal hyperplasia +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25781 ! ARMC5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25781 {source="mim2gene_medgen"} ! ARMC5 property_value: confidence "1.6470588235294117" xsd:double @@ -280736,7 +285283,7 @@ xref: Orphanet:423296 {source="OMIM:615957", source="MONDO:equivalentTo"} xref: UMLS:C4014812 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:C4518337 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0018118 {source="Orphanet:423296"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement -is_a: MONDO:0019793 {source="Orphanet:423296"} ! autosomal dominant cerebellar ataxia type III +is_a: MONDO:0019793 {source="EFO:0009056", source="Orphanet:423296"} ! autosomal dominant cerebellar ataxia type III relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21308 {source="mim2gene_medgen"} ! ELOVL5 property_value: confidence "15.5625" xsd:double @@ -280744,10 +285291,12 @@ property_value: confidence "15.5625" xsd:double id: MONDO:0014418 name: myopathy, centronuclear, 5 def: "Any autosomal recessive centronuclear myopathy in which the cause of the disease is a mutation in the SPEG gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive centronuclear myopathy caused by mutation in SPEG" EXACT [MONDO:design_pattern] synonym: "CNM5" RELATED [MONDO:Lexical, OMIM:615959] synonym: "myopathy, centronuclear, 5" EXACT [MONDO:Lexical, OMIM:615959] synonym: "MYOPATHY, centronuclear, 5; CNM5" RELATED [OMIM:615959] synonym: "Myopathy, centronuclear, type 5" EXACT [MONDORULE:1, OMIM:615959] +synonym: "SPEG autosomal recessive centronuclear myopathy" EXACT [MONDO:design_pattern] xref: OMIM:615959 {source="MONDO:equivalentTo"} xref: Orphanet:169186 {source="OMIM:615959", source="MONDO:subClassOf"} xref: UMLS:C4014814 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -280870,7 +285419,7 @@ xref: MESH:C566300 {source="MONDO:equivalentTo"} xref: OMIM:615969 {source="Orphanet:168612", source="MONDO:equivalentTo", source="ORDO:168612/e"} xref: Orphanet:168612 {source="OMIM:615969", source="MONDO:equivalentTo"} xref: UMLS:C1863081 {source="NCBI:mim2gene_medline", source="Orphanet:168612", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="Orphanet:168612"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C566300/inferred", source="Orphanet:168612"} ! inherited genetic disease is_a: MONDO:0018652 {source="Orphanet:168612"} ! biological anomaly without phenotypic characterization relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/317 {source="mim2gene_medgen"} ! AFP property_value: confidence "8.333333333333334" xsd:double @@ -280887,7 +285436,7 @@ xref: OMIM:615970 {source="Orphanet:168615", source="ORDO:168615/e", source="MON xref: Orphanet:168615 {source="OMIM:615970", source="MONDO:equivalentTo"} xref: SCTID:716697002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1863080 {source="NCBI:mim2gene_medline"} -is_a: MONDO:0003847 {source="Orphanet:168615", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="Orphanet:168615", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0018652 {source="Orphanet:168615"} ! biological anomaly without phenotypic characterization relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/317 {source="mim2gene_medgen"} ! AFP property_value: confidence "6.5" xsd:double @@ -280897,10 +285446,12 @@ id: MONDO:0014426 name: nanophthalmos 4 def: "Any nanophthalmia in which the cause of the disease is a mutation in the TMEM98 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Nanophthalmia 4" RELATED [OMIM:615972] +synonym: "nanophthalmia caused by mutation in TMEM98" EXACT [MONDO:design_pattern] synonym: "nanophthalmos 4" EXACT [MONDO:Lexical, OMIM:615972] synonym: "nanophthalmos 4; NNO4" RELATED [OMIM:615972] synonym: "nanophthalmos type 4" EXACT [MONDORULE:1, OMIM:615972] synonym: "NNO4" RELATED [MONDO:Lexical, OMIM:615972] +synonym: "TMEM98 nanophthalmia" EXACT [MONDO:design_pattern] xref: OMIM:615972 {source="MONDO:equivalentTo"} xref: Orphanet:35612 {source="OMIM:615972", source="MONDO:subClassOf"} xref: UMLS:C4014848 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -280917,9 +285468,11 @@ name: cone-rod dystrophy 20 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the POC1B gene." [MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 20" EXACT [MONDO:Lexical, OMIM:615973] synonym: "cone-ROD dystrophy 20; CORD20" RELATED [OMIM:615973] +synonym: "cone-rod dystrophy caused by mutation in POC1B" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 20" EXACT [MONDORULE:2, OMIM:615973] synonym: "cone-rod dystrophy type 20" EXACT [DOID:0111026, MONDORULE:2] synonym: "CORD20" EXACT [DOID:0111026, MONDO:Lexical, OMIM:615973] +synonym: "POC1B cone-rod dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0111026 {source="MONDO:equivalentTo"} xref: OMIM:615973 {source="DOID:0111026", source="MONDO:equivalentTo"} xref: UMLS:C4014856 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -280933,11 +285486,13 @@ id: MONDO:0014428 name: autosomal recessive nonsyndromic deafness 102 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the EPS8 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 102" EXACT [DOID:0110463] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in EPS8" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 102" EXACT [DOID:0110463, MONDORULE:2] synonym: "deafness, autosomal recessive 102" RELATED [MONDO:Lexical, OMIM:615974] synonym: "deafness, autosomal recessive 102; DFNB102" RELATED [OMIM:615974] synonym: "deafness, autosomal recessive type 102" EXACT [MONDORULE:2, OMIM:615974] synonym: "DFNB102" EXACT [DOID:0110463, MONDO:Lexical, OMIM:615974] +synonym: "EPS8 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110463 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110463"} xref: OMIM:615974 {source="DOID:0110463", source="MONDO:equivalentTo"} @@ -280973,6 +285528,8 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014430 name: intellectual disability, autosomal recessive 45 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FBXO31 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in FBXO31" EXACT [MONDO:design_pattern] +synonym: "FBXO31 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 45" RELATED [MONDO:Lexical, OMIM:615979] synonym: "mental retardation, autosomal recessive 45; MRT45" RELATED [OMIM:615979] synonym: "mental retardation, autosomal recessive type 45" EXACT [MONDORULE:2, OMIM:615979] @@ -281013,10 +285570,12 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation synonym: "Bardet-Biedl syndrome" RELATED [GARD:0000821] synonym: "Bardet-Biedl syndrome 2" EXACT [MONDO:Lexical, OMIM:615981] synonym: "Bardet-Biedl syndrome 2; BBS2" RELATED [OMIM:615981] +synonym: "Bardet-Biedl syndrome caused by mutation in BBS2" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 2" EXACT [DOID:0110124, MONDORULE:1, OMIM:615981] synonym: "BBS" RELATED [GARD:0000821] synonym: "BBS2" EXACT [DOID:0110124, MONDO:Lexical, OMIM:615981] synonym: "BBS2" RELATED [GARD:0000821] +synonym: "BBS2 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110124 {source="MONDO:equivalentTo"} xref: GARD:0000821 {source="MONDO:equivalentTo"} xref: ICD10:Q87.89 {source="DOID:0110124"} @@ -281047,7 +285606,7 @@ xref: OMIM:209900 {source="GARD:0000823", source="MONDO:directSiblingOf"} xref: OMIM:615982 {source="DOID:0110126", source="MONDO:equivalentTo"} xref: Orphanet:110 {source="MONDO:subClassOf", source="OMIM:615982"} xref: UMLS:C2936864 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015229 {source="DC-OMIM:615982", source="DOID:0110126", source="MESH:C537912", source="OMIM:615982"} ! Bardet-Biedl syndrome +is_a: MONDO:0015229 {source="DC-OMIM:615982", source="DOID:0110126", source="EFO:0009024", source="MESH:C537912", source="OMIM:615982"} ! Bardet-Biedl syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/969 {source="mim2gene_medgen"} ! BBS4 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/823/bardet-biedl-syndrome-4 xsd:anyURI {source="GARD:0000823"} @@ -281058,8 +285617,10 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:0010204"} synonym: "Bardet-Biedl syndrome 5" EXACT [MONDO:Lexical, OMIM:615983] synonym: "Bardet-Biedl syndrome 5; BBS5" RELATED [OMIM:615983] +synonym: "Bardet-Biedl syndrome caused by mutation in BBS5" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 5" EXACT [DOID:0110127, MONDORULE:1, OMIM:615983] synonym: "BBS5" EXACT [DOID:0110127, MONDO:Lexical, OMIM:615983] +synonym: "BBS5 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110127 {source="MONDO:equivalentTo"} xref: EFO:0009025 {source="MONDO:equivalentTo"} xref: GARD:0010204 {source="MONDO:equivalentTo"} @@ -281067,7 +285628,7 @@ xref: ICD10:Q87.89 {source="DOID:0110127"} xref: OMIM:209900 {source="MONDO:directSiblingOf", source="GARD:0010204"} xref: OMIM:615983 {source="DOID:0110127", source="MONDO:equivalentTo"} xref: UMLS:C3892039 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015229 {source="DC-OMIM:615983", source="DOID:0110127", source="OMIM:615983"} ! Bardet-Biedl syndrome +is_a: MONDO:0015229 {source="DC-OMIM:615983", source="DOID:0110127", source="EFO:0009025", source="OMIM:615983"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/970 ! BBS5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/970 {source="mim2gene_medgen"} ! BBS5 @@ -281080,8 +285641,10 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:0010206"} synonym: "Bardet-Biedl syndrome 7" EXACT [MONDO:Lexical, OMIM:615984] synonym: "Bardet-Biedl syndrome 7; BBS7" RELATED [OMIM:615984] +synonym: "Bardet-Biedl syndrome caused by mutation in BBS7" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 7" EXACT [DOID:0110129, MONDORULE:1, OMIM:615984] synonym: "BBS7" EXACT [DOID:0110129, MONDO:Lexical, OMIM:615984] +synonym: "BBS7 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110129 {source="MONDO:equivalentTo"} xref: EFO:0009026 {source="MONDO:equivalentTo"} xref: GARD:0010206 {source="MONDO:equivalentTo"} @@ -281090,7 +285653,7 @@ xref: MESH:C565916 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:209900 {source="GARD:0010206", source="MONDO:directSiblingOf"} xref: OMIM:615984 {source="DOID:0110129", source="MONDO:equivalentTo"} xref: UMLS:C1859565 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015229 {source="DC-OMIM:615984", source="DOID:0110129", source="MESH:C565916", source="OMIM:615984"} ! Bardet-Biedl syndrome +is_a: MONDO:0015229 {source="DC-OMIM:615984", source="DOID:0110129", source="EFO:0009026", source="MESH:C565916", source="OMIM:615984"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18758 ! BBS7 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18758 {source="mim2gene_medgen"} ! BBS7 @@ -281103,8 +285666,10 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:0010207"} synonym: "Bardet-Biedl syndrome 8" EXACT [MONDO:Lexical, OMIM:615985] synonym: "Bardet-Biedl syndrome 8; BBS8" RELATED [OMIM:615985] +synonym: "Bardet-Biedl syndrome caused by mutation in TTC8" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 8" EXACT [DOID:0110130, MONDORULE:1, OMIM:615985] synonym: "BBS8" EXACT [DOID:0110130, MONDO:Lexical, OMIM:615985] +synonym: "TTC8 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110130 {source="MONDO:equivalentTo"} xref: GARD:0010207 {source="MONDO:equivalentTo"} xref: ICD10:Q87.89 {source="DOID:0110130"} @@ -281125,8 +285690,10 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: gard_rare {source="GARD:0010208"} synonym: "Bardet-Biedl syndrome 9" EXACT [MONDO:Lexical, OMIM:615986] synonym: "Bardet-Biedl syndrome 9; BBS9" RELATED [OMIM:615986] +synonym: "Bardet-Biedl syndrome caused by mutation in BBS9" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 9" EXACT [DOID:0110131, MONDORULE:1, OMIM:615986] synonym: "BBS9" EXACT [DOID:0110131, MONDO:Lexical, OMIM:615986] +synonym: "BBS9 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110131 {source="MONDO:equivalentTo"} xref: EFO:0009027 {source="MONDO:equivalentTo"} xref: GARD:0010208 {source="MONDO:equivalentTo"} @@ -281135,7 +285702,7 @@ xref: MESH:C565918 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:209900 {source="GARD:0010208", source="MONDO:directSiblingOf"} xref: OMIM:615986 {source="DOID:0110131", source="MONDO:equivalentTo"} xref: UMLS:C1859567 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015229 {source="DC-OMIM:615986", source="DOID:0110131", source="MESH:C565918", source="OMIM:615986"} ! Bardet-Biedl syndrome +is_a: MONDO:0015229 {source="DC-OMIM:615986", source="DOID:0110131", source="EFO:0009027", source="MESH:C565918", source="OMIM:615986"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30000 ! BBS9 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30000 {source="mim2gene_medgen"} ! BBS9 @@ -281147,15 +285714,17 @@ name: Bardet-Biedl syndrome 10 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS10 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Bardet-Biedl syndrome 10" EXACT [MONDO:Lexical, OMIM:615987] synonym: "Bardet-Biedl syndrome 10; BBS10" RELATED [OMIM:615987] +synonym: "Bardet-Biedl syndrome caused by mutation in BBS10" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 10" EXACT [DOID:0110132, MONDORULE:2, OMIM:615987] synonym: "BBS10" EXACT [DOID:0110132, MONDO:Lexical, OMIM:615987] +synonym: "BBS10 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110132 {source="MONDO:equivalentTo"} xref: EFO:0009022 {source="MONDO:equivalentTo"} xref: ICD10:Q87.89 {source="DOID:0110132"} xref: MESH:C565919 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:615987 {source="DOID:0110132", source="MONDO:equivalentTo"} xref: UMLS:C1859568 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015229 {source="DC-OMIM:615987", source="DOID:0110132", source="MESH:C565919", source="MONDO:Entailed", source="OMIM:615987"} ! Bardet-Biedl syndrome +is_a: MONDO:0015229 {source="DC-OMIM:615987", source="DOID:0110132", source="EFO:0009022", source="MESH:C565919", source="MONDO:Entailed", source="OMIM:615987"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26291 ! BBS10 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26291 {source="mim2gene_medgen"} ! BBS10 @@ -281166,8 +285735,10 @@ name: Bardet-Biedl syndrome 11 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the TRIM32 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Bardet-Biedl syndrome 11" EXACT [MONDO:Lexical, OMIM:615988] synonym: "Bardet-Biedl syndrome 11; BBS11" RELATED [OMIM:615988] +synonym: "Bardet-Biedl syndrome caused by mutation in TRIM32" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 11" EXACT [DOID:0110133, MONDORULE:2, OMIM:615988] synonym: "BBS11" EXACT [DOID:0110133, MONDO:Lexical, OMIM:615988] +synonym: "TRIM32 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110133 {source="MONDO:equivalentTo"} xref: ICD10:Q87.89 {source="DOID:0110133"} xref: MESH:C565920 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -281184,15 +285755,17 @@ name: Bardet-Biedl syndrome 12 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBS12 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Bardet-Biedl syndrome 12" EXACT [MONDO:Lexical, OMIM:615989] synonym: "Bardet-Biedl syndrome 12; BBS12" RELATED [OMIM:615989] +synonym: "Bardet-Biedl syndrome caused by mutation in BBS12" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 12" EXACT [DOID:0110134, MONDORULE:2, OMIM:615989] synonym: "BBS12" EXACT [DOID:0110134, MONDO:Lexical, OMIM:615989] +synonym: "BBS12 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110134 {source="MONDO:equivalentTo"} xref: EFO:0009023 {source="MONDO:equivalentTo"} xref: ICD10:Q87.89 {source="DOID:0110134"} xref: MESH:C565921 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:615989 {source="DOID:0110134", source="MONDO:equivalentTo"} xref: UMLS:C1859570 {source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015229 {source="DC-OMIM:615989", source="DOID:0110134", source="MESH:C565921", source="MONDO:Entailed", source="OMIM:615989"} ! Bardet-Biedl syndrome +is_a: MONDO:0015229 {source="DC-OMIM:615989", source="DOID:0110134", source="EFO:0009023", source="MESH:C565921", source="MONDO:Entailed", source="OMIM:615989"} ! Bardet-Biedl syndrome intersection_of: MONDO:0015229 ! Bardet-Biedl syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26648 ! BBS12 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26648 {source="mim2gene_medgen"} ! BBS12 @@ -281203,8 +285776,10 @@ name: Bardet-Biedl syndrome 13 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the MKS1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Bardet-Biedl syndrome 13" EXACT [MONDO:Lexical, OMIM:615990] synonym: "Bardet-Biedl syndrome 13; BBS13" RELATED [OMIM:615990] +synonym: "Bardet-Biedl syndrome caused by mutation in MKS1" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 13" EXACT [DOID:0110135, MONDORULE:2, OMIM:615990] synonym: "BBS13" EXACT [DOID:0110135, MONDO:Lexical, OMIM:615990] +synonym: "MKS1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110135 {source="MONDO:equivalentTo"} xref: ICD10:Q87.89 {source="DOID:0110135"} xref: MESH:C567140 {source="MONDO:ontobio", source="MONDO:equivalentTo"} @@ -281244,8 +285819,10 @@ name: Bardet-Biedl syndrome 15 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the WDPCP gene." [MONDO:patterns/disease_series_by_gene] synonym: "Bardet-Biedl syndrome 15" EXACT [MONDO:Lexical, OMIM:615992] synonym: "Bardet-Biedl syndrome 15; BBS15" RELATED [OMIM:615992] +synonym: "Bardet-Biedl syndrome caused by mutation in WDPCP" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 15" EXACT [DOID:0110137, MONDORULE:2, OMIM:615992] synonym: "BBS15" EXACT [DOID:0110137, MONDO:Lexical, OMIM:615992] +synonym: "WDPCP Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110137 {source="MONDO:equivalentTo"} xref: ICD10:Q87.89 {source="DOID:0110137"} xref: OMIM:615992 {source="DOID:0110137", source="MONDO:equivalentTo"} @@ -281263,8 +285840,10 @@ def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation subset: clingen synonym: "Bardet-Biedl syndrome 16" EXACT [MONDO:Lexical, OMIM:615993] synonym: "Bardet-Biedl syndrome 16; BBS16" RELATED [OMIM:615993] +synonym: "Bardet-Biedl syndrome caused by mutation in SDCCAG8" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 16" EXACT [DOID:0110138, MONDORULE:2, OMIM:615993] synonym: "BBS16" EXACT [DOID:0110138, MONDO:Lexical, OMIM:615993] +synonym: "SDCCAG8 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110138 {source="MONDO:equivalentTo"} xref: ICD10:Q87.89 {source="DOID:0110138"} xref: OMIM:615993 {source="DOID:0110138", source="MONDO:equivalentTo"} @@ -281281,8 +285860,10 @@ name: Bardet-Biedl syndrome 17 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the LZTFL1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Bardet-Biedl syndrome 17" EXACT [MONDO:Lexical, OMIM:615994] synonym: "Bardet-Biedl syndrome 17; BBS17" RELATED [OMIM:615994] +synonym: "Bardet-Biedl syndrome caused by mutation in LZTFL1" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 17" EXACT [DOID:0110139, MONDORULE:2, OMIM:615994] synonym: "BBS17" EXACT [DOID:0110139, MONDO:Lexical, OMIM:615994] +synonym: "LZTFL1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110139 {source="MONDO:equivalentTo"} xref: ICD10:Q87.89 {source="DOID:0110139"} xref: OMIM:615994 {source="DOID:0110139", source="MONDO:equivalentTo"} @@ -281298,7 +285879,9 @@ name: Bardet-Biedl syndrome 18 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the BBIP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Bardet-Biedl syndrome 18" EXACT [MONDO:Lexical, OMIM:615995] synonym: "Bardet-Biedl syndrome 18; BBS18" RELATED [OMIM:615995] +synonym: "Bardet-Biedl syndrome caused by mutation in BBIP1" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 18" EXACT [DOID:0110140, MONDORULE:2, OMIM:615995] +synonym: "BBIP1 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] synonym: "BBS18" EXACT [DOID:0110140, MONDO:Lexical, OMIM:615995] xref: DOID:0110140 {source="MONDO:equivalentTo"} xref: ICD10:Q87.89 {source="DOID:0110140"} @@ -281315,8 +285898,10 @@ name: Bardet-Biedl syndrome 19 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT27 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Bardet-Biedl syndrome 19" EXACT [MONDO:Lexical, OMIM:615996] synonym: "Bardet-Biedl syndrome 19; BBS19" RELATED [OMIM:615996] +synonym: "Bardet-Biedl syndrome caused by mutation in IFT27" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 19" EXACT [DOID:0110141, MONDORULE:2, OMIM:615996] synonym: "BBS19" EXACT [DOID:0110141, MONDO:Lexical, OMIM:615996] +synonym: "IFT27 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110141 {source="MONDO:equivalentTo"} xref: ICD10:Q87.89 {source="DOID:0110141"} xref: OMIM:615996 {source="DOID:0110141", source="MONDO:equivalentTo"} @@ -281342,7 +285927,7 @@ xref: Orphanet:276271 {source="OMIM:615999"} xref: SCTID:237547004 {source="MONDO:kboom-pr-0.76/0.38/0.67", source="MONDO:equivalentTo"} xref: UMLS:C0342185 {source="NCBI:mim2gene_medline"} is_a: MONDO:0003847 {source="MESH:D050010"} ! inherited genetic disease -is_a: MONDO:0004425 {source="NCIT:C131813"} ! hyperthyroidism +is_a: MONDO:0004425 {source="NCIT:C131813", source="linkedlifedata"} ! hyperthyroidism is_a: MONDO:0005333 {source="MESH:D050010"} ! hyperthyroxinemia relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/399 {source="mim2gene_medgen"} ! ALB property_value: confidence "5.0" xsd:double @@ -281378,6 +285963,8 @@ synonym: "BNAH2" RELATED [MONDO:Lexical, OMIM:616001] synonym: "breasts and/or nipples, aplasia or hypoplasia of, 2" EXACT [MONDO:Lexical, OMIM:616001] synonym: "breasts and/or nipples, aplasia or hypoplasia of, 2; BNAH2" RELATED [OMIM:616001] synonym: "breasts and/or nipples, aplasia or hypoplasia of, type 2" EXACT [MONDORULE:1, OMIM:616001] +synonym: "isolated congenital breast hypoplasia/aplasia caused by mutation in PTPRF" EXACT [MONDO:design_pattern] +synonym: "PTPRF isolated congenital breast hypoplasia/aplasia" EXACT [MONDO:design_pattern] xref: OMIM:616001 {source="MONDO:equivalentTo"} xref: Orphanet:180188 {source="MONDO:subClassOf", source="OMIM:616001"} xref: UMLS:C4014918 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -281393,9 +285980,11 @@ name: focal segmental glomerulosclerosis 7 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the PAX2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "focal segmental glomerulosclerosis 7" EXACT [MONDO:Lexical, OMIM:616002] synonym: "focal segmental glomerulosclerosis 7; FSGS7" RELATED [OMIM:616002] +synonym: "focal segmental glomerulosclerosis caused by mutation in PAX2" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis type 7" EXACT [DOID:0111132, MONDORULE:1, OMIM:616002] synonym: "FSGS7" EXACT [DOID:0111132, MONDO:Lexical, OMIM:616002] synonym: "glomerulosclerosis, focal segmental, 7" RELATED [OMIM:616002] +synonym: "PAX2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern] xref: DOID:0111132 {source="MONDO:equivalentTo"} xref: ICD10:N04.1 {source="DOID:0111132"} xref: OMIM:616002 {source="DOID:0111132", source="MONDO:equivalentTo"} @@ -281431,7 +286020,7 @@ xref: SCTID:111589005 {source="MONDO:equivalentTo"} xref: UMLS:C0272350 {source="NCBI:mim2gene_medline", source="Orphanet:98881"} xref: UMLS:C1260903 {source="NCIT:C131659", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:CN207171 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001531 {source="MONDO:Redundant", source="NCIT:C131659", source="linkedlife/inferred"} ! blood coagulation disease +is_a: MONDO:0001531 {source="MONDO:Redundant", source="NCIT:C131659", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! blood coagulation disease is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease is_a: MONDO:0018060 {source="Orphanet:98881"} ! congenital fibrinogen deficiency relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3661 {source="mim2gene_medgen"} ! FGA @@ -281458,9 +286047,11 @@ property_value: confidence "1.1527777777777777" xsd:double id: MONDO:0014454 name: Hennekam lymphangiectasia-lymphedema syndrome 2 def: "Any Hennekam syndrome in which the cause of the disease is a mutation in the FAT4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FAT4 Hennekam syndrome" EXACT [MONDO:design_pattern] synonym: "Hennekam lymphangiectasia-lymphedema syndrome 2" EXACT [MONDO:Lexical, OMIM:616006] synonym: "Hennekam lymphangiectasia-lymphedema syndrome 2; HKLLS2" RELATED [OMIM:616006] synonym: "Hennekam lymphangiectasia-lymphedema syndrome type 2" EXACT [MONDORULE:1, OMIM:616006] +synonym: "Hennekam syndrome caused by mutation in FAT4" EXACT [MONDO:design_pattern] synonym: "HKLLS2" RELATED [MONDO:Lexical, OMIM:616006] xref: OMIM:616006 {source="MONDO:equivalentTo"} xref: Orphanet:2136 {source="OMIM:616006", source="MONDO:subClassOf"} @@ -281519,6 +286110,8 @@ synonym: "HPMRS5" RELATED [MONDO:Lexical, OMIM:616025] synonym: "hyperphosphatasia with mental retardation syndrome 5" EXACT [MONDO:Lexical, OMIM:616025] synonym: "hyperphosphatasia with mental retardation syndrome 5; HPMRS5" RELATED [OMIM:616025] synonym: "hyperphosphatasia with mental retardation syndrome type 5" EXACT [MONDORULE:1, OMIM:616025] +synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGW" EXACT [MONDO:design_pattern] +synonym: "PIGW hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616025 {source="MONDO:equivalentTo"} xref: Orphanet:247262 {source="MONDO:subClassOf", source="OMIM:616025"} xref: UMLS:C4014958 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -281534,8 +286127,10 @@ name: Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young def: "Any Fanconi syndrome in which the cause of the disease is a mutation in the HNF4A gene." [MONDO:patterns/disease_series_by_gene] synonym: "Fanconi renotubular syndrome 4 with maturity-onset diabetes of the young" EXACT [MONDO:Lexical, OMIM:616026] synonym: "FANCONI renotubular syndrome 4 with maturity-onset diabetes of the young; FRTS4" RELATED [OMIM:616026] +synonym: "Fanconi syndrome caused by mutation in HNF4A" EXACT [MONDO:design_pattern] synonym: "FRTS4" RELATED [MONDO:Lexical, OMIM:616026] synonym: "Frts4 with MODY" RELATED [OMIM:616026] +synonym: "HNF4A Fanconi syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616026 {source="MONDO:equivalentTo"} xref: Orphanet:93111 {source="MONDO:subClassOf", source="OMIM:616026"} xref: UMLS:C4014962 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -281552,8 +286147,10 @@ name: Adams-Oliver syndrome 5 def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the NOTCH1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Adams-Oliver syndrome 5" EXACT [MONDO:Lexical, OMIM:616028] synonym: "Adams-Oliver syndrome 5; AOS5" RELATED [OMIM:616028] +synonym: "Adams-Oliver syndrome caused by mutation in NOTCH1" EXACT [MONDO:design_pattern] synonym: "Adams-Oliver syndrome type 5" EXACT [MONDORULE:1, OMIM:616028] synonym: "AOS5" RELATED [MONDO:Lexical, OMIM:616028] +synonym: "NOTCH1 Adams-Oliver syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616028 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="OMIM:616028", source="MONDO:subClassOf"} xref: UMLS:C4014970 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -281587,15 +286184,17 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0014461 name: hypogonadotropic hypogonadism 22 with or without anosmia def: "Any hypogonadotropic hypogonadism in which the cause of the disease is a mutation in the FEZF1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FEZF1 hypogonadotropic hypogonadism" EXACT [MONDO:design_pattern] synonym: "HH22" RELATED [MONDO:Lexical, OMIM:616030] synonym: "hypogonadotropic hypogonadism 22 with or without anosmia" EXACT [MONDO:Lexical, OMIM:616030] synonym: "hypogonadotropic hypogonadism 22 with or without anosmia; HH22" RELATED [OMIM:616030] +synonym: "hypogonadotropic hypogonadism caused by mutation in FEZF1" EXACT [MONDO:design_pattern] xref: DOID:0090081 {source="MONDO:equivalentTo"} xref: ICD10:E23.0 {source="DOID:0090081", source="MONDO:relatedTo"} xref: OMIM:616030 {source="DOID:0090081", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="MONDO:subClassOf", source="OMIM:616030"} xref: UMLS:C4014988 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018555 {source="MONDO:Redundant", source="OMIM:616030"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:0090081", source="MONDO:Redundant", source="OMIM:616030"} ! hypogonadotropic hypogonadism is_a: MONDO:0018800 {source="ORDO:478/btnt"} ! Kallmann syndrome intersection_of: MONDO:0018555 ! hypogonadotropic hypogonadism intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/22788 ! FEZF1 @@ -281606,8 +286205,10 @@ property_value: confidence "1.018928274356262" xsd:double id: MONDO:0014462 name: focal segmental glomerulosclerosis 8 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the ANLN gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ANLN focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis 8" EXACT [MONDO:Lexical, OMIM:616032] synonym: "focal segmental glomerulosclerosis 8; FSGS8" RELATED [OMIM:616032] +synonym: "focal segmental glomerulosclerosis caused by mutation in ANLN" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis type 8" EXACT [DOID:0111133, MONDORULE:1, OMIM:616032] synonym: "FSGS8" EXACT [DOID:0111133, MONDO:Lexical, OMIM:616032] synonym: "glomerulosclerosis, focal segmental, 8" RELATED [OMIM:616032] @@ -281655,12 +286256,14 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0014465 name: primary ciliary dyskinesia 30 def: "Any primary ciliary dyskinesia in which the cause of the disease is a mutation in the CCDC151 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CCDC151 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "CILD30" EXACT [DOID:0110624, MONDO:Lexical, OMIM:616037] synonym: "ciliary dyskinesia, primary, 30" RELATED [MONDO:Lexical, OMIM:616037] synonym: "ciliary dyskinesia, primary, 30, with or without situs inversus" RELATED [OMIM:616037] synonym: "ciliary dyskinesia, primary, 30; CILD30" RELATED [OMIM:616037] synonym: "ciliary dyskinesia, primary, type 30" EXACT [MONDORULE:2, OMIM:616037] synonym: "primary ciliary dyskinesia 30 without situs inversus" EXACT [DOID:0110624] +synonym: "primary ciliary dyskinesia caused by mutation in CCDC151" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 30" EXACT [DOID:0110624, MONDORULE:2] xref: DOID:0110624 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110624"} @@ -281678,8 +286281,10 @@ name: Neu-Laxova syndrome 2 def: "Any Neu-Laxova syndrome in which the cause of the disease is a mutation in the PSAT1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Neu-Laxova syndrome 2" EXACT [MONDO:Lexical, OMIM:616038] synonym: "NEU-Laxova syndrome 2; NLS2" RELATED [OMIM:616038] +synonym: "Neu-Laxova syndrome caused by mutation in PSAT1" EXACT [MONDO:design_pattern] synonym: "Neu-Laxova syndrome type 2" EXACT [DOID:0080075, MONDORULE:1, OMIM:616038] synonym: "NLS2" RELATED [MONDO:Lexical, OMIM:616038] +synonym: "PSAT1 Neu-Laxova syndrome" EXACT [MONDO:design_pattern] xref: DOID:0080075 {source="MONDO:equivalentTo"} xref: OMIM:616038 {source="DOID:0080075", source="MONDO:equivalentTo"} xref: Orphanet:2671 {source="OMIM:616038", source="MONDO:subClassOf"} @@ -281696,18 +286301,20 @@ name: Charcot-Marie-tooth disease recessive intermediate d def: "Any Charcot-Marie-tooth disease in which the cause of the disease is a mutation in the COX6A1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:435998"} synonym: "autosomal recessive intermediate Charcot-Marie-Tooth disease type D" EXACT [DOID:0110203] +synonym: "Charcot-Marie-tooth disease caused by mutation in COX6A1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease recessive intermediate type D" EXACT [DOID:0110203, MONDORULE:1] synonym: "Charcot-Marie-Tooth disease, recessive intermediate D" RELATED [MONDO:Lexical, OMIM:616039] synonym: "Charcot-Marie-Tooth disease, recessive intermediate D; CMTRID" RELATED [OMIM:616039] synonym: "Charcot-Marie-Tooth disease, recessive Intermediate type D" EXACT [MONDORULE:1, OMIM:616039] synonym: "CMTRID" EXACT [DOID:0110203, MONDO:Lexical, OMIM:616039] +synonym: "COX6A1 Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] synonym: "RI-CMT type D" EXACT [DOID:0110203, Orphanet:435998] xref: DOID:0110203 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="Orphanet:435998", source="ORDO:435998/attributed", source="ORDO:435998/ntbt", source="DOID:0110203"} xref: OMIM:616039 {source="Orphanet:435998", source="DOID:0110203", source="ORDO:435998/e", source="MONDO:equivalentTo"} xref: Orphanet:435998 {source="DOID:0110203", source="MONDO:equivalentTo"} xref: UMLS:C4015029 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:616039", source="Orphanet:435998/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110203/inferred", source="MONDO:Redundant", source="OMIM:616039", source="Orphanet:435998/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0016578 {source="Orphanet:435998"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is_a: MONDO:0017058 {source="MONDOLEX:0014467", source="Orphanet:435998"} ! autosomal recessive intermediate Charcot-Marie-tooth disease intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease @@ -281721,14 +286328,16 @@ name: congenital myasthenic syndrome 7 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SYT2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CMS7" EXACT [DOID:0110659, MONDO:Lexical, OMIM:616040] synonym: "congenital myasthenic syndrome 7 presynaptic" EXACT [DOID:0110659] +synonym: "congenital myasthenic syndrome caused by mutation in SYT2" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 7" EXACT [DOID:0110659, MONDORULE:1] synonym: "myasthenic syndrome, congenital, 7, presynaptic" RELATED [MONDO:Lexical, OMIM:616040] synonym: "myasthenic syndrome, congenital, 7, presynaptic; CMS7" RELATED [OMIM:616040] synonym: "myasthenic syndrome, presynaptic, congenital, with or without motor neuropathy" RELATED [OMIM:616040] +synonym: "SYT2 congenital myasthenic syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110659 {source="MONDO:equivalentTo"} xref: OMIM:616040 {source="DOID:0110659", source="MONDO:equivalentTo"} xref: UMLS:C4015038 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:616040"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110659", source="MONDO:Redundant", source="OMIM:616040"} ! congenital myasthenic syndrome is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11510 ! SYT2 @@ -281740,7 +286349,9 @@ id: MONDO:0014469 name: autosomal recessive nonsyndromic deafness 103 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CLIC5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 103" EXACT [DOID:0110464] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CLIC5" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 103" EXACT [DOID:0110464, MONDORULE:2] +synonym: "CLIC5 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal recessive 103" RELATED [MONDO:Lexical, OMIM:616042] synonym: "deafness, autosomal recessive 103; DFNB103" RELATED [OMIM:616042] synonym: "deafness, autosomal recessive type 103" EXACT [MONDORULE:2, OMIM:616042] @@ -281759,11 +286370,13 @@ id: MONDO:0014470 name: autosomal dominant nonsyndromic deafness 65 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the TBC1D24 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 65" EXACT [DOID:0110586] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in TBC1D24" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 65" EXACT [DOID:0110586, MONDORULE:2] synonym: "deafness, autosomal dominant 65" RELATED [MONDO:Lexical, OMIM:616044] synonym: "deafness, autosomal dominant 65; DFNA65" RELATED [OMIM:616044] synonym: "deafness, autosomal dominant type 65" EXACT [MONDORULE:2, OMIM:616044] synonym: "DFNA65" EXACT [DOID:0110586, MONDO:Lexical, OMIM:616044] +synonym: "TBC1D24 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110586 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110586"} xref: OMIM:616044 {source="DOID:0110586", source="MONDO:equivalentTo"} @@ -281828,6 +286441,8 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014473 name: microcephaly 13, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CENPE gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive primary microcephaly caused by mutation in CENPE" EXACT [MONDO:design_pattern] +synonym: "CENPE autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern] synonym: "MCPH13" RELATED [MONDO:Lexical, OMIM:616051] synonym: "microcephaly 13, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616051] synonym: "microcephaly 13, primary, autosomal recessive; MCPH13" RELATED [OMIM:616051] @@ -281846,7 +286461,9 @@ id: MONDO:0014474 name: autosomal recessive limb-girdle muscular dystrophy type 2U def: "Any autosomal recessive limb-girdle muscular dystrophy in which the cause of the disease is a mutation in the ISPD gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:352479"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in ISPD" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy due to ISPD deficiency" EXACT [DOID:0110295, Orphanet:352479] +synonym: "ISPD autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "LGMD2U" EXACT [DOID:0110295, Orphanet:352479] synonym: "MDDGC7" EXACT [DOID:0110295, MONDO:Lexical, OMIM:616052] synonym: "muscular dystrophy limb-girdle type 2U" EXACT [DOID:0110295] @@ -281887,7 +286504,7 @@ xref: Orphanet:423275 {source="OMIM:616053", source="MONDO:equivalentTo"} xref: UMLS:C4518336 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:CN219009 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN237494 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0019792 {source="Orphanet:423275"} ! autosomal dominant cerebellar ataxia type I +is_a: MONDO:0019792 {source="EFO:0009057", source="Orphanet:423275"} ! autosomal dominant cerebellar ataxia type I relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19967 {source="mim2gene_medgen"} ! CCDC88C property_value: confidence "15.5625" xsd:double @@ -281905,7 +286522,7 @@ xref: ICD10:G11.8 {source="ORDO:401953/ntbt", source="Orphanet:401953", source=" xref: OMIM:616055 {source="ORDO:401953/e", source="Orphanet:401953", source="DOID:0050996", source="MONDO:equivalentTo"} xref: Orphanet:401953 {source="OMIM:616055", source="MONDO:equivalentTo"} xref: UMLS:C4015108 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016227 {source="Orphanet:401953"} ! hereditary episodic ataxia +is_a: MONDO:0016227 {source="DOID:0050996", source="Orphanet:401953"} ! hereditary episodic ataxia property_value: confidence "1.333333333333333" xsd:double [Term] @@ -281914,10 +286531,12 @@ name: epileptic encephalopathy, early infantile, 26 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNB1 gene." [MONDO:patterns/disease_series_by_gene] subset: gard_rare {source="GARD:0012391"} synonym: "early infantile epileptic encephalopathy 26" RELATED [GARD:0012391] +synonym: "early infantile epileptic encephalopathy caused by mutation in KCNB1" EXACT [MONDO:design_pattern] synonym: "EIEE26" RELATED [GARD:0012391, MONDO:Lexical, OMIM:616056] synonym: "epileptic encephalopathy, early infantile, 26" EXACT [MONDO:Lexical, OMIM:616056] synonym: "epileptic encephalopathy, early infantile, 26; EIEE26" RELATED [OMIM:616056] synonym: "epileptic encephalopathy, early infantile, type 26" EXACT [MONDORULE:2, OMIM:616056] +synonym: "KCNB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: GARD:0012391 {source="MONDO:equivalentTo"} xref: OMIM:616056 {source="MONDO:equivalentTo"} xref: UMLS:C4015119 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -281933,6 +286552,8 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12391/early-i id: MONDO:0014478 name: mirror movements 3 def: "Any familial congenital mirror movements in which the cause of the disease is a mutation in the DNAL4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DNAL4 familial congenital mirror movements" EXACT [MONDO:design_pattern] +synonym: "familial congenital mirror movements caused by mutation in DNAL4" EXACT [MONDO:design_pattern] synonym: "mirror movements 3" EXACT [MONDO:Lexical, OMIM:616059] synonym: "mirror movements 3; MRMV3" RELATED [OMIM:616059] synonym: "mirror movements type 3" EXACT [MONDORULE:1, OMIM:616059] @@ -281980,9 +286601,11 @@ property_value: confidence "1.0498438571428572" xsd:double id: MONDO:0014481 name: inflammatory skin and bowel disease, neonatal, 2 def: "Any neonatal inflammatory skin and bowel disease in which the cause of the disease is a mutation in the EGFR gene." [MONDO:patterns/disease_series_by_gene] +synonym: "EGFR neonatal inflammatory skin and bowel disease" EXACT [MONDO:design_pattern] synonym: "inflammatory skin and bowel disease, neonatal, 2" EXACT [MONDO:Lexical, OMIM:616069] synonym: "inflammatory skin and bowel disease, neonatal, 2; NISBD2" RELATED [OMIM:616069] synonym: "inflammatory skin and bowel disease, neonatal, type 2" EXACT [MONDORULE:1, OMIM:616069] +synonym: "neonatal inflammatory skin and bowel disease caused by mutation in EGFR" EXACT [MONDO:design_pattern] synonym: "NISBD2" RELATED [MONDO:Lexical, OMIM:616069] xref: OMIM:616069 {source="MONDO:equivalentTo"} xref: Orphanet:294023 {source="MONDO:subClassOf", source="OMIM:616069"} @@ -282001,11 +286624,13 @@ subset: gard_rare synonym: "autosomal dominant mental retardation 29" EXACT [DOID:0070059] synonym: "autosomal dominant mental retardation 29" RELATED [GARD:0013379] synonym: "autosomal dominant non-syndromic intellectual disability 29" RELATED [DOID:0070059] +synonym: "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in SETBP1" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 29" RELATED [MONDO:Lexical, OMIM:616078] synonym: "mental retardation, autosomal dominant 29; MRD29" RELATED [OMIM:616078] synonym: "mental retardation, autosomal dominant type 29" EXACT [MONDORULE:2, OMIM:616078] synonym: "MRD29" EXACT [DOID:0070059, MONDO:Lexical, OMIM:616078] synonym: "SETBP1 disorder" RELATED [GARD:0013379] +synonym: "SETBP1 intellectual disability-expressive aphasia-facial dysmorphism syndrome" EXACT [MONDO:design_pattern] synonym: "SETBP1 related developmental delay" RELATED [GARD:0013379] synonym: "SETBP1-related disorder" RELATED [GARD:0013379] synonym: "SETBP1-related intellectual disability" RELATED [GARD:0013379] @@ -282034,7 +286659,7 @@ xref: ICD10:H35.5 {source="ORDO:397758/attributed", source="MONDO:directSiblingO xref: OMIM:616079 {source="ORDO:397758/e", source="MONDO:equivalentTo", source="Orphanet:397758"} xref: Orphanet:397758 {source="MONDO:equivalentTo", source="OMIM:616079"} xref: UMLS:C4015146 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019118 {source="Orphanet:397758"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:397758"} ! inherited retinal dystrophy relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6174 {source="mim2gene_medgen"} ! ITM2B property_value: confidence "2.692307692307692" xsd:double @@ -282042,6 +286667,8 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014484 name: microcephaly 12, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CDK6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive primary microcephaly caused by mutation in CDK6" EXACT [MONDO:design_pattern] +synonym: "CDK6 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern] synonym: "MCPH12" RELATED [MONDO:Lexical, OMIM:616080] synonym: "microcephaly 12, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616080] synonym: "microcephaly 12, primary, autosomal recessive; MCPH12" RELATED [OMIM:616080] @@ -282057,8 +286684,10 @@ property_value: confidence "0.5073248878127503" xsd:double id: MONDO:0014485 name: pontocerebellar hypoplasia, type 1C def: "Any pontocerebellar hypoplasia type 1 in which the cause of the disease is a mutation in the EXOSC8 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "EXOSC8 pontocerebellar hypoplasia type 1" EXACT [MONDO:design_pattern] synonym: "hypomyelination with spinal muscular atrophy and cerebellar hypoplasia" RELATED [OMIM:616081] synonym: "PCH1C" RELATED [MONDO:Lexical, OMIM:616081] +synonym: "pontocerebellar hypoplasia type 1 caused by mutation in EXOSC8" EXACT [MONDO:design_pattern] synonym: "pontocerebellar hypoplasia, type 1C" EXACT [MONDO:Lexical, OMIM:616081] synonym: "pontocerebellar hypoplasia, type 1C; PCH1C" RELATED [OMIM:616081] xref: OMIM:616081 {source="MONDO:equivalentTo"} @@ -282077,10 +286706,12 @@ def: "Any intellectual disability-expressive aphasia-facial dysmorphism syndrome synonym: "autosomal dominant intellectual disability 30" RELATED [GARD:0013136] synonym: "autosomal dominant mental retardation 30" EXACT [DOID:0070060] synonym: "autosomal dominant non-syndromic intellectual disability 30" RELATED [DOID:0070060] +synonym: "intellectual disability-expressive aphasia-facial dysmorphism syndrome caused by mutation in ZMYND11" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 30" RELATED [MONDO:Lexical, OMIM:616083] synonym: "mental retardation, autosomal dominant 30; MRD30" RELATED [OMIM:616083] synonym: "mental retardation, autosomal dominant type 30" EXACT [MONDORULE:2, OMIM:616083] synonym: "MRD30" EXACT [DOID:0070060, MONDO:Lexical, OMIM:616083] +synonym: "ZMYND11 intellectual disability-expressive aphasia-facial dysmorphism syndrome" EXACT [MONDO:design_pattern] xref: DOID:0070060 {source="MONDO:equivalentTo"} xref: GARD:0013136 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:616083 {source="DOID:0070060", source="MONDO:equivalentTo"} @@ -282122,6 +286753,8 @@ synonym: "diabetes mellitus, noninsulin-dependent, 5" EXACT [MONDO:Lexical, OMIM synonym: "diabetes mellitus, noninsulin-dependent, 5; NIDDM5" RELATED [OMIM:616087] synonym: "diabetes mellitus, noninsulin-dependent, type 5" EXACT [MONDORULE:1, OMIM:616087] synonym: "NIDDM5" RELATED [MONDO:Lexical, OMIM:616087] +synonym: "TBC1D4 type 2 diabetes mellitus" EXACT [MONDO:design_pattern] +synonym: "type 2 diabetes mellitus caused by mutation in TBC1D4" EXACT [MONDO:design_pattern] xref: OMIM:616087 {source="MONDO:equivalentTo"} xref: UMLS:C4015183 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="MONDO:Redundant"} ! inherited genetic disease @@ -282171,10 +286804,12 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014491 name: immunodeficiency 37 def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL10 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BCL10 primary immunodeficiency disease" EXACT [MONDO:design_pattern] synonym: "IMD37" RELATED [MONDO:Lexical, OMIM:616098] synonym: "immunodeficiency 37" EXACT [MONDO:Lexical, OMIM:616098] synonym: "immunodeficiency 37; IMD37" RELATED [OMIM:616098] synonym: "immunodeficiency type 37" EXACT [MONDORULE:2, OMIM:616098] +synonym: "primary immunodeficiency disease caused by mutation in BCL10" EXACT [MONDO:design_pattern] xref: OMIM:616098 {source="MONDO:equivalentTo"} xref: UMLS:C4015195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003778 {source="DC-OMIM:616098"} ! primary immunodeficiency disease @@ -282238,6 +286873,8 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12316/autoimm id: MONDO:0014494 name: psoriasis 15, pustular, susceptibility to def: "Any generalized pustular psoriasis in which the cause of the disease is a mutation in the AP1S3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AP1S3 generalized pustular psoriasis" EXACT [MONDO:design_pattern] +synonym: "generalized pustular psoriasis caused by mutation in AP1S3" EXACT [MONDO:design_pattern] synonym: "psoriasis 15, pustular, susceptibility to" EXACT [MONDO:Lexical, OMIM:616106] synonym: "psoriasis 15, pustular, susceptibility to; PSORS15" RELATED [OMIM:616106] synonym: "PSORS15" RELATED [MONDO:Lexical, OMIM:616106] @@ -282275,14 +286912,16 @@ name: mitochondrial complex III deficiency nuclear type 9 def: "Any mitochondrial complex III deficiency in which the cause of the disease is a mutation in the UQCC3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "MC3DN9" RELATED [MONDO:Lexical, OMIM:616111] synonym: "mitochondrial Complex 3 deficiency, nuclear type 9" RELATED [OMIM:616111] +synonym: "mitochondrial complex III deficiency caused by mutation in UQCC3" EXACT [MONDO:design_pattern] synonym: "mitochondrial complex III deficiency, nuclear type 9" RELATED [MONDO:Lexical, OMIM:616111] synonym: "mitochondrial complex III deficiency, nuclear type 9; MC3DN9" RELATED [OMIM:616111] +synonym: "UQCC3 mitochondrial complex III deficiency" EXACT [MONDO:design_pattern] xref: DOID:0080118 {source="MONDO:equivalentTo"} xref: OMIM:616111 {source="MONDO:equivalentTo", source="DOID:0080118"} xref: Orphanet:1460 {source="MONDO:subClassOf", source="OMIM:616111"} xref: UMLS:C4015253 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000066 {source="DC-OMIM:616111"} ! mitochondrial complex deficiency -is_a: MONDO:0015448 {source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency +is_a: MONDO:0015448 {source="DOID:0080118", source="ORDO:1460/btnt"} ! mitochondrial complex III deficiency intersection_of: MONDO:0015448 ! mitochondrial complex III deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/34399 ! UQCC3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/34399 {source="mim2gene_medgen"} ! UQCC3 @@ -282313,8 +286952,10 @@ name: familial cold autoinflammatory syndrome 4 def: "Any familial cold autoinflammatory syndrome in which the cause of the disease is a mutation in the NLRC4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "familial cold autoinflammatory syndrome 4" EXACT [MONDO:Lexical, OMIM:616115] synonym: "familial cold autoinflammatory syndrome 4; FCAS4" RELATED [OMIM:616115] +synonym: "familial cold autoinflammatory syndrome caused by mutation in NLRC4" EXACT [MONDO:design_pattern] synonym: "familial cold autoinflammatory syndrome type 4" EXACT [DOID:0090065, MONDORULE:1, OMIM:616115] synonym: "FCAS4" RELATED [MONDO:Lexical, OMIM:616115] +synonym: "NLRC4 familial cold autoinflammatory syndrome" EXACT [MONDO:design_pattern] xref: DOID:0090065 {source="MONDO:equivalentTo"} xref: ICD10:L50.2 {source="DOID:0090065"} xref: OMIM:616115 {source="DOID:0090065", source="MONDO:equivalentTo"} @@ -282330,10 +286971,12 @@ property_value: confidence "1.4444444444444446" xsd:double id: MONDO:0014499 name: intellectual disability, autosomal recessive 46 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the NDST1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in NDST1" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 46" RELATED [MONDO:Lexical, OMIM:616116] synonym: "mental retardation, autosomal recessive 46; MRT46" RELATED [OMIM:616116] synonym: "mental retardation, autosomal recessive type 46" EXACT [MONDORULE:2, OMIM:616116] synonym: "MRT46" RELATED [MONDO:Lexical, OMIM:616116] +synonym: "NDST1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] xref: OMIM:616116 {source="MONDO:equivalentTo"} xref: UMLS:C4015283 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019502 {source="DC-OMIM:616116", source="OMIM:616116"} ! autosomal recessive non-syndromic intellectual disability @@ -282400,7 +287043,9 @@ name: autosomal recessive spinocerebellar ataxia 17 def: "Any autosomal recessive congenital cerebellar ataxia in which the cause of the disease is a mutation in the CWF19L1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:453521"} synonym: "autosomal recessive cerebellar ataxia due to CWF19L1 deficiency" RELATED [Orphanet:453521] +synonym: "autosomal recessive congenital cerebellar ataxia caused by mutation in CWF19L1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spinocerebellar ataxia type 17" EXACT [DOID:0080064, MONDORULE:2] +synonym: "CWF19L1 autosomal recessive congenital cerebellar ataxia" EXACT [MONDO:design_pattern] synonym: "SCAR17" EXACT [MONDO:Lexical, OMIM:616127, Orphanet:453521] synonym: "spinocerebellar ataxia autosomal recessive type 17" EXACT [Orphanet:453521] synonym: "spinocerebellar ataxia, autosomal recessive 17" RELATED [MONDO:Lexical, OMIM:616127] @@ -282424,8 +287069,10 @@ name: Perrault syndrome 5 def: "Any Perrault syndrome in which the cause of the disease is a mutation in the TWNK gene." [MONDO:patterns/disease_series_by_gene] synonym: "Perrault syndrome 5" EXACT [MONDO:Lexical, OMIM:616138] synonym: "Perrault syndrome 5; PRLTS5" RELATED [OMIM:616138] +synonym: "Perrault syndrome caused by mutation in TWNK" EXACT [MONDO:design_pattern] synonym: "Perrault syndrome type 5" EXACT [MONDORULE:1, OMIM:616138] synonym: "PRLTS5" RELATED [MONDO:Lexical, OMIM:616138] +synonym: "TWNK Perrault syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616138 {source="MONDO:equivalentTo"} xref: Orphanet:2855 {source="OMIM:616138", source="MONDO:subClassOf"} xref: UMLS:C4015307 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -282439,10 +287086,12 @@ property_value: confidence "1.4822000130642108" xsd:double id: MONDO:0014505 name: epileptic encephalopathy, early infantile, 27 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in GRIN2B" EXACT [MONDO:design_pattern] synonym: "EIEE27" RELATED [MONDO:Lexical, OMIM:616139] synonym: "epileptic encephalopathy, early infantile, 27" EXACT [MONDO:Lexical, OMIM:616139] synonym: "epileptic encephalopathy, early infantile, 27; EIEE27" RELATED [OMIM:616139] synonym: "epileptic encephalopathy, early infantile, type 27" EXACT [MONDORULE:2, OMIM:616139] +synonym: "GRIN2B early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:616139 {source="MONDO:equivalentTo"} xref: Orphanet:3451 {source="OMIM:616139", source="MONDO:subClassOf"} xref: UMLS:C4015316 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -282460,9 +287109,11 @@ def: "Any leukodystrophy in which the cause of the disease is a mutation in the subset: ordo_disease {source="Orphanet:438114"} synonym: "HLD9" EXACT [DOID:0060791, MONDO:Lexical, OMIM:616140] synonym: "hypomyelinating leukodystrophy type 9" EXACT [DOID:0060791, MONDORULE:1] +synonym: "leukodystrophy caused by mutation in RARS" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 9" RELATED [MONDO:Lexical, OMIM:616140] synonym: "leukodystrophy, hypomyelinating, 9; HLD9" RELATED [OMIM:616140] synonym: "leukodystrophy, hypomyelinating, type 9" EXACT [MONDORULE:1, OMIM:616140] +synonym: "RARS leukodystrophy" EXACT [MONDO:design_pattern] synonym: "RARS-related autosomal recessive hypomyelinating leukodystrophy" EXACT [DOID:0060791] xref: DOID:0060791 {source="MONDO:equivalentTo"} xref: ICD10:E75.2 {source="DOID:0060791", source="ORDO:438114/attributed", source="Orphanet:438114", source="ORDO:438114/ntbt"} @@ -282470,7 +287121,7 @@ xref: OMIM:616140 {source="DOID:0060791", source="Orphanet:438114", source="MOND xref: Orphanet:438114 {source="DOID:0060791", source="MONDO:equivalentTo"} xref: UMLS:C4015323 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015983 {source="Orphanet:438114"} ! rare genetic syndromic intellectual disability -is_a: MONDO:0019046 {source="DOID:0060791", source="MONDO:Entailed", source="OMIM:616140", source="Orphanet:438114"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0060791", source="DOID:0060791/inferred", source="MONDO:Entailed", source="OMIM:616140", source="Orphanet:438114"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9870 ! RARS relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9870 {source="mim2gene_medgen"} ! RARS @@ -282518,9 +287169,11 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/28/catel-manz id: MONDO:0014508 name: macular dystrophy, vitelliform, 4 def: "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "IMPG1 vitelliform macular dystrophy" EXACT [MONDO:design_pattern] synonym: "macular dystrophy, vitelliform, 4" EXACT [MONDO:Lexical, OMIM:616151] synonym: "macular dystrophy, vitelliform, 4; VMD4" RELATED [OMIM:616151] synonym: "macular dystrophy, vitelliform, type 4" EXACT [MONDORULE:1, OMIM:616151] +synonym: "vitelliform macular dystrophy caused by mutation in IMPG1" EXACT [MONDO:design_pattern] synonym: "VMD4" RELATED [MONDO:Lexical, OMIM:616151] xref: OMIM:616151 {source="MONDO:equivalentTo"} xref: Orphanet:99000 {source="MONDO:subClassOf", source="OMIM:616151"} @@ -282536,9 +287189,11 @@ property_value: confidence "1.7625263157894748" xsd:double id: MONDO:0014509 name: macular dystrophy, vitelliform, 5 def: "Any vitelliform macular dystrophy in which the cause of the disease is a mutation in the IMPG2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "IMPG2 vitelliform macular dystrophy" EXACT [MONDO:design_pattern] synonym: "macular dystrophy, vitelliform, 5" EXACT [MONDO:Lexical, OMIM:616152] synonym: "macular dystrophy, vitelliform, 5; VMD5" RELATED [OMIM:616152] synonym: "macular dystrophy, vitelliform, type 5" EXACT [MONDORULE:1, OMIM:616152] +synonym: "vitelliform macular dystrophy caused by mutation in IMPG2" EXACT [MONDO:design_pattern] synonym: "VMD5" RELATED [MONDO:Lexical, OMIM:616152] xref: OMIM:616152 {source="MONDO:equivalentTo"} xref: Orphanet:99000 {source="OMIM:616152", source="MONDO:subClassOf"} @@ -282578,6 +287233,7 @@ name: Charcot-Marie-tooth disease axonal type 2S def: "Any Charcot-Marie-tooth disease in which the cause of the disease is a mutation in the IGHMBP2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:443073"} synonym: "autosomal recessive axonal Charcot-Marie-Tooth type 2S" EXACT [DOID:0110171] +synonym: "Charcot-Marie-tooth disease caused by mutation in IGHMBP2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 2S" EXACT [DOID:0110171] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2S" RELATED [OMIM:616155] synonym: "Charcot-Marie-Tooth disease, axonal, type 2S" RELATED [MONDO:Lexical, OMIM:616155] @@ -282585,12 +287241,13 @@ synonym: "Charcot-Marie-Tooth disease, axonal, type 2S; CMT2S" RELATED [OMIM:616 synonym: "Charcot-Marie-Tooth neuropathy type 2S" EXACT [DOID:0110171] synonym: "Charcot-Marie-Tooth neuropathy, type 2S" RELATED [OMIM:616155] synonym: "CMT2S" EXACT [DOID:0110171, MONDO:Lexical, OMIM:616155, Orphanet:443073] +synonym: "IGHMBP2 Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] xref: DOID:0110171 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="ORDO:443073/attributed", source="ORDO:443073/ntbt", source="Orphanet:443073"} xref: OMIM:616155 {source="Orphanet:443073", source="DOID:0110171", source="MONDO:equivalentTo", source="ORDO:443073/e"} xref: Orphanet:443073 {source="DOID:0110171", source="MONDO:equivalentTo"} xref: UMLS:C4015349 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:616155", source="Orphanet:443073/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110171/inferred", source="MONDO:Redundant", source="OMIM:616155", source="Orphanet:443073/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110171"} ! Charcot-Marie-tooth disease type 2 is_a: MONDO:0019601 {source="Orphanet:443073"} ! autosomal recessive axonal hereditary motor and sensory neuropathy intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease @@ -282626,9 +287283,11 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0014513 name: nemaline myopathy 10 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the LMOD3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "LMOD3 nemaline myopathy" EXACT [MONDO:design_pattern] synonym: "NEM10" EXACT [DOID:0110931, MONDO:Lexical, OMIM:616165] synonym: "nemaline myopathy 10" EXACT [MONDO:Lexical, OMIM:616165] synonym: "nemaline MYOPATHY 10; NEM10" RELATED [OMIM:616165] +synonym: "nemaline myopathy caused by mutation in LMOD3" EXACT [MONDO:design_pattern] synonym: "nemaline Myopathy type 10" EXACT [MONDORULE:2, OMIM:616165] synonym: "nemaline myopathy type 10" EXACT [DOID:0110931, MONDORULE:2] xref: DOID:0110931 {source="MONDO:equivalentTo"} @@ -282637,7 +287296,7 @@ xref: Orphanet:607 {source="OMIM:616165", source="MONDO:subClassOf"} xref: UMLS:C4015360 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015735 {source="ORDO:171430/btnt"} ! severe congenital nemaline myopathy is_a: MONDO:0015737 {source="ORDO:171436/btnt"} ! typical nemaline myopathy -is_a: MONDO:0018958 {source="MONDO:Redundant", source="OMIM:616165"} ! nemaline myopathy +is_a: MONDO:0018958 {source="DOID:0110931", source="MONDO:Redundant", source="OMIM:616165"} ! nemaline myopathy intersection_of: MONDO:0018958 ! nemaline myopathy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6649 ! LMOD3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6649 {source="mim2gene_medgen"} ! LMOD3 @@ -282652,6 +287311,8 @@ synonym: "aortic aneurysm, familial thoracic 9" EXACT [MONDO:Lexical, OMIM:61616 synonym: "aortic aneurysm, familial thoracic 9; AAT9" RELATED [OMIM:616166] synonym: "aortic aneurysm, familial thoracic type 9" EXACT [MONDORULE:1, OMIM:616166] synonym: "aortic aneurysm, thoracic, with or without aortic dissection" RELATED [OMIM:616166] +synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in MFAP5" EXACT [MONDO:design_pattern] +synonym: "MFAP5 familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern] xref: OMIM:616166 {source="MONDO:equivalentTo"} xref: Orphanet:91387 {source="MONDO:subClassOf", source="OMIM:616166"} xref: UMLS:C4015368 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -282680,10 +287341,12 @@ id: MONDO:0014516 name: microcephaly and chorioretinopathy 2 def: "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the PLK4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "MCCRP2" RELATED [MONDO:Lexical, OMIM:616171] +synonym: "microcephaly and chorioretinopathy caused by mutation in PLK4" EXACT [MONDO:design_pattern] synonym: "microcephaly and chorioretinopathy type 2" EXACT [DOID:0080106, MONDORULE:1] synonym: "microcephaly and chorioretinopathy, autosomal recessive, 2" RELATED [MONDO:Lexical, OMIM:616171] synonym: "microcephaly and chorioretinopathy, autosomal recessive, 2; MCCRP2" RELATED [OMIM:616171] synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 2" EXACT [MONDORULE:1, OMIM:616171] +synonym: "PLK4 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern] xref: DOID:0080106 {source="MONDO:equivalentTo"} xref: OMIM:616171 {source="DOID:0080106", source="MONDO:equivalentTo"} xref: Orphanet:808 {source="OMIM:616171", source="MONDO:subClassOf"} @@ -282701,8 +287364,10 @@ name: generalized epilepsy with febrile seizures plus, type 9 def: "Any generalized epilepsy with febrile seizures plus in which the cause of the disease is a mutation in the STX1B gene." [MONDO:patterns/disease_series_by_gene] synonym: "Gefs+, type 9" RELATED [OMIM:616172] synonym: "GEFSP9" RELATED [MONDO:Lexical, OMIM:616172] +synonym: "generalized epilepsy with febrile seizures plus caused by mutation in STX1B" EXACT [MONDO:design_pattern] synonym: "generalized epilepsy with febrile seizures plus, type 9" EXACT [MONDO:Lexical, OMIM:616172] synonym: "generalized epilepsy with febrile seizures plus, type 9; GEFSP9" RELATED [OMIM:616172] +synonym: "STX1B generalized epilepsy with febrile seizures plus" EXACT [MONDO:design_pattern] xref: OMIM:616172 {source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="OMIM:616172", source="MONDO:subClassOf"} xref: UMLS:C4015395 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -282719,6 +287384,8 @@ subset: ordo_disease {source="Orphanet:438207"} synonym: "BDPLT19" EXACT [DOID:0111048, MONDO:Lexical, OMIM:616176] synonym: "bleeding disorder, PLATELET-type, 19" RELATED [MONDO:Lexical, OMIM:616176] synonym: "bleeding disorder, PLATELET-type, 19; BDPLT19" RELATED [OMIM:616176] +synonym: "isolated hereditary giant platelet disorder caused by mutation in PRKACG" EXACT [MONDO:design_pattern] +synonym: "PRKACG isolated hereditary giant platelet disorder" EXACT [MONDO:design_pattern] synonym: "severe autosomal recessive macrothrombocytopenia" EXACT [DOID:0111048] xref: DOID:0111048 {source="MONDO:equivalentTo"} xref: ICD10:D69.4 {source="ORDO:438207/attributed", source="DOID:0111048", source="ORDO:438207/ntbt", source="Orphanet:438207"} @@ -282769,9 +287436,11 @@ synonym: "epilepsy, progressive myoclonic 7" RELATED [MONDO:Lexical, OMIM:616187 synonym: "epilepsy, progressive myoclonic 7; EPM7" RELATED [OMIM:616187] synonym: "epilepsy, progressive myoclonic type 7" EXACT [MONDORULE:1, OMIM:616187] synonym: "EPM7" EXACT [MONDO:Lexical, OMIM:616187, Orphanet:435438] +synonym: "KCNC1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern] synonym: "meak" EXACT [Orphanet:435438] synonym: "myoclonus epilepsy and ataxia due to potassium channel mutation" EXACT [Orphanet:435438] synonym: "PME type 7" EXACT [Orphanet:435438] +synonym: "progressive myoclonic epilepsy caused by mutation in KCNC1" EXACT [MONDO:design_pattern] synonym: "progressive myoclonic epilepsy due to KV3.1 deficiency" EXACT [Orphanet:435438] synonym: "progressive myoclonus epilepsy type 7" EXACT [Orphanet:435438] xref: ICD10:G40.3 {source="Orphanet:435438", source="ORDO:435438/attributed", source="ORDO:435438/ntbt"} @@ -282780,7 +287449,7 @@ xref: OMIM:616187 {source="ORDO:435438/e", source="Orphanet:435438", source="MON xref: Orphanet:435438 {source="MONDO:equivalentTo"} xref: UMLS:C4015420 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017655 {source="Orphanet:435438"} ! progressive epilepsy and/or ataxia with myoclonus as a major feature -is_a: MONDO:0020074 {source="DC-OMIM:616187", source="OMIM:616187", source="Orphanet:435438"} ! progressive myoclonic epilepsy +is_a: MONDO:0020074 {source="DC-OMIM:616187", source="NCIT:C142804", source="OMIM:616187", source="Orphanet:435438"} ! progressive myoclonic epilepsy intersection_of: MONDO:0020074 ! progressive myoclonic epilepsy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6233 ! KCNC1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6233 {source="mim2gene_medgen"} ! KCNC1 @@ -282822,6 +287491,8 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0014524 name: intellectual disability, autosomal recessive 47 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the FMN2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in FMN2" EXACT [MONDO:design_pattern] +synonym: "FMN2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 47" RELATED [MONDO:Lexical, OMIM:616193] synonym: "mental retardation, autosomal recessive 47; MRT47" RELATED [OMIM:616193] synonym: "mental retardation, autosomal recessive type 47" EXACT [MONDORULE:2, OMIM:616193] @@ -282841,8 +287512,10 @@ def: "Any combined oxidative phosphorylation deficiency in which the cause of th subset: ordo_disease {source="Orphanet:444013"} synonym: "combined oxidative phosphorylation deficiency 23" RELATED [MONDO:Lexical, OMIM:616198] synonym: "combined oxidative phosphorylation deficiency 23; COXPD23" RELATED [OMIM:616198] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in GTPBP3" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 23" EXACT [MONDORULE:2, OMIM:616198] synonym: "COXPD23" EXACT [MONDO:Lexical, OMIM:616198, Orphanet:444013] +synonym: "GTPBP3 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: EFO:0009033 {source="MONDO:equivalentTo"} xref: ICD10:I42.2 {source="ORDO:444013/attributed", source="Orphanet:444013", source="ORDO:444013/ntbt"} xref: OMIM:616198 {source="ORDO:444013/e", source="MONDO:equivalentTo", source="Orphanet:444013"} @@ -282851,7 +287524,7 @@ xref: UMLS:C4015447 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo" is_a: MONDO:0000732 {source="DC-OMIM:616198", source="OMIM:616198"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0015983 {source="Orphanet:444013"} ! rare genetic syndromic intellectual disability is_a: MONDO:0016327 {source="Orphanet:444013"} ! mitochondrial disease with hypertrophic cardiomyopathy -is_a: MONDO:0018157 {source="Orphanet:444013"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis +is_a: MONDO:0018157 {source="EFO:0009033", source="Orphanet:444013"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis is_a: MONDO:0019058 {source="Orphanet:444013"} ! neurometabolic disease intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14880 ! GTPBP3 @@ -282863,9 +287536,11 @@ id: MONDO:0014526 name: polyglucosan body myopathy type 2 def: "Any polyglucosan body myopathy in which the cause of the disease is a mutation in the GYG1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:456369"} +synonym: "GYG1 polyglucosan body myopathy" EXACT [MONDO:design_pattern] synonym: "PGBM2" RELATED [MONDO:Lexical, OMIM:616199] synonym: "polyglucosan body MYOPATHY 2" RELATED [MONDO:Lexical, OMIM:616199] synonym: "polyglucosan body MYOPATHY 2; PGBM2" RELATED [OMIM:616199] +synonym: "polyglucosan body myopathy caused by mutation in GYG1" EXACT [MONDO:design_pattern] synonym: "polyglucosan body Myopathy type 2" EXACT [MONDORULE:1, OMIM:616199] xref: ICD10:E74.0 {source="ORDO:456369/attributed", source="Orphanet:456369", source="MONDO:subClassOf", source="ORDO:456369/ntbt"} xref: OMIM:616199 {source="Orphanet:456369", source="ORDO:456369/e", source="MONDO:equivalentTo"} @@ -282953,9 +287628,11 @@ id: MONDO:0014530 name: autosomal recessive spinocerebellar ataxia 18 def: "Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency is a rare, genetic, slowly progressive neurodegenerative disease resulting from GRID2 deficiency characterized by motor, speech and cognitive delay, hypotonia, truncal and appendicular ataxia, and eye movement abnormalities (tonic upgaze, nystagmus, oculomotor apraxia). Intention tremor may also be associated. Brain imaging reveals progressive cerebellar atrophy with cerebellar flocculus particularly affected." [Orphanet:363432] subset: ordo_clinical_subtype {source="Orphanet:363432"} +synonym: "autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome caused by mutation in GRID2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency" RELATED [Orphanet:363432] synonym: "autosomal recessive congenital cerebellar ataxia due to ionotropic glutamate receptor delta-2 subunit deficiency" EXACT [Orphanet:363432] synonym: "autosomal recessive spinocerebellar ataxia type 18" EXACT [DOID:0080042, MONDORULE:2] +synonym: "GRID2 autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome" EXACT [MONDO:design_pattern] synonym: "SCAR18" EXACT [MONDO:Lexical, OMIM:616204, Orphanet:363432] synonym: "spinocerebellar ataxia, autosomal recessive 18" RELATED [MONDO:Lexical, OMIM:616204] synonym: "spinocerebellar ataxia, autosomal recessive 18; SCAR18" RELATED [OMIM:616204] @@ -282982,7 +287659,9 @@ synonym: "amyotrohpic lateral sclerosis 22 with or without frontotemporal dement synonym: "amyotrophic lateral sclerosis 22" EXACT [DOID:0060355] synonym: "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia" RELATED [MONDO:Lexical, OMIM:616208] synonym: "amyotrophic lateral sclerosis 22 with or without frontotemporal dementia; ALS22" RELATED [OMIM:616208] +synonym: "amyotrophic lateral sclerosis caused by mutation in TUBA4A" EXACT [MONDO:design_pattern] synonym: "amyotrophic lateral sclerosis type 22" RELATED [DOID:0060355] +synonym: "TUBA4A amyotrophic lateral sclerosis" EXACT [MONDO:design_pattern] xref: DOID:0060355 {source="MONDO:equivalentTo"} xref: OMIM:616208 {source="DOID:0060355", source="MONDO:equivalentTo"} xref: Orphanet:803 {source="OMIM:616208", source="MONDO:subClassOf"} @@ -283014,10 +287693,12 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014533 name: epileptic encephalopathy, early infantile, 28 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the WWOX gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in WWOX" EXACT [MONDO:design_pattern] synonym: "EIEE28" RELATED [MONDO:Lexical, OMIM:616211] synonym: "epileptic encephalopathy, early infantile, 28" EXACT [MONDO:Lexical, OMIM:616211] synonym: "epileptic encephalopathy, early infantile, 28; EIEE28" RELATED [OMIM:616211] synonym: "epileptic encephalopathy, early infantile, type 28" EXACT [MONDORULE:2, OMIM:616211] +synonym: "WWOX early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:616211 {source="MONDO:equivalentTo"} xref: UMLS:C4015519 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:616211", source="OMIM:616211"} ! early infantile epileptic encephalopathy @@ -283031,9 +287712,11 @@ property_value: confidence "6.200000000000001" xsd:double id: MONDO:0014534 name: lissencephaly 6 with microcephaly def: "Any microlissencephaly in which the cause of the disease is a mutation in the KATNB1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "KATNB1 microlissencephaly" EXACT [MONDO:design_pattern] synonym: "LIS6" RELATED [MONDO:Lexical, OMIM:616212] synonym: "lissencephaly 6 with microcephaly" EXACT [MONDO:Lexical, OMIM:616212] synonym: "lissencephaly 6 with microcephaly; LIS6" RELATED [OMIM:616212] +synonym: "microlissencephaly caused by mutation in KATNB1" EXACT [MONDO:design_pattern] xref: OMIM:616212 {source="MONDO:equivalentTo"} xref: UMLS:C4015525 {source="NCBI:mim2gene_medline"} is_a: MONDO:0015204 {source="ORDO:1083/btnt"} ! microlissencephaly @@ -283059,10 +287742,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/60 id: MONDO:0014536 name: thrombocytopenia 5 def: "Any thrombocytopenia in which the cause of the disease is a mutation in the ETV6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ETV6 thrombocytopenia" EXACT [MONDO:design_pattern] synonym: "THC5" RELATED [MONDO:Lexical, OMIM:616216] synonym: "thrombocytopenia 5" EXACT [MONDO:Lexical, OMIM:616216] synonym: "thrombocytopenia 5 with increased susceptibility to malignancy" RELATED [OMIM:616216] synonym: "thrombocytopenia 5; THC5" RELATED [OMIM:616216] +synonym: "thrombocytopenia caused by mutation in ETV6" EXACT [MONDO:design_pattern] synonym: "thrombocytopenia type 5" EXACT [MONDORULE:1, OMIM:616216] synonym: "thrombocytopenia, autosomal dominant, 5" RELATED [OMIM:616216] xref: OMIM:616216 {source="MONDO:equivalentTo"} @@ -283097,6 +287782,8 @@ id: MONDO:0014538 name: fibrosis of extraocular muscles, congenital, 5 def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the COL25A1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CFEOM5" RELATED [MONDO:Lexical, OMIM:616219] +synonym: "COL25A1 congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern] +synonym: "congenital fibrosis of extraocular muscles caused by mutation in COL25A1" EXACT [MONDO:design_pattern] synonym: "fibrosis of extraocular muscles, congenital, 5" EXACT [MONDO:Lexical, OMIM:616219] synonym: "fibrosis of extraocular muscles, congenital, 5; CFEOM5" RELATED [OMIM:616219] synonym: "fibrosis of extraocular muscles, congenital, type 5" EXACT [MONDORULE:1, OMIM:616219] @@ -283115,8 +287802,10 @@ property_value: confidence "0.19471518930725118" xsd:double id: MONDO:0014539 name: focal segmental glomerulosclerosis 9 def: "Any focal segmental glomerulosclerosis in which the cause of the disease is a mutation in the CRB2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CRB2 focal segmental glomerulosclerosis" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis 9" EXACT [MONDO:Lexical, OMIM:616220] synonym: "focal segmental glomerulosclerosis 9; FSGS9" RELATED [OMIM:616220] +synonym: "focal segmental glomerulosclerosis caused by mutation in CRB2" EXACT [MONDO:design_pattern] synonym: "focal segmental glomerulosclerosis type 9" EXACT [DOID:0111134, MONDORULE:1, OMIM:616220] synonym: "FSGS9" EXACT [DOID:0111134, MONDO:Lexical, OMIM:616220] synonym: "glomerulosclerosis, focal segmental, 9" RELATED [OMIM:616220] @@ -283136,10 +287825,12 @@ name: amelogenesis imperfecta type 1H def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the ITGB6 gene." [MONDO:patterns/disease_series_by_gene] comment: Not in the OMIM series. {source="OMIM:616221"} synonym: "AI1H" EXACT [DOID:0110064, MONDO:Lexical, OMIM:616221] +synonym: "amelogenesis imperfecta caused by mutation in ITGB6" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta type IH" EXACT [DOID:0110064] synonym: "amelogenesis imperfecta, type 1H" RELATED [OMIM:616221] synonym: "amelogenesis imperfecta, type IH" RELATED [MONDO:Lexical, OMIM:616221] synonym: "amelogenesis imperfecta, type IH; AI1H" RELATED [OMIM:616221] +synonym: "ITGB6 amelogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110064 {source="MONDO:equivalentTo"} xref: ICD10:K00.5 {source="DOID:0110064"} xref: OMIM:616221 {source="DOID:0110064", source="MONDO:equivalentTo"} @@ -283148,7 +287839,7 @@ xref: Orphanet:88661 {source="MONDO:subClassOf", source="OMIM:616221"} xref: UMLS:C4015557 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0007538 {source="ORDO:100032/btnt"} ! hypocalcified amelogenesis imperfecta is_a: MONDO:0015047 {source="MONDOLEX:0014540", source="ORDO:100031/btnt"} ! hypoplastic amelogenesis imperfecta -is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:616221"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="DOID:0110064", source="MONDO:Redundant", source="OMIM:616221"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6161 ! ITGB6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6161 {source="mim2gene_medgen"} ! ITGB6 @@ -283176,8 +287867,10 @@ property_value: confidence "0.26086956521739135" xsd:double id: MONDO:0014542 name: congenital myasthenic syndrome 15 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the ALG14 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ALG14 congenital myasthenic syndrome" EXACT [MONDO:design_pattern] synonym: "CMS15" EXACT [DOID:0110658, MONDO:Lexical, OMIM:616227] synonym: "congenital myasthenic syndrome 15 without tubular aggregates" EXACT [DOID:0110658] +synonym: "congenital myasthenic syndrome caused by mutation in ALG14" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 15" EXACT [DOID:0110658, MONDORULE:2] synonym: "myasthenic syndrome, congenital, 15" RELATED [MONDO:Lexical, OMIM:616227] synonym: "myasthenic syndrome, congenital, 15; CMS15" RELATED [OMIM:616227] @@ -283189,7 +287882,7 @@ xref: Orphanet:353327 {source="OMIM:616227", source="MONDO:subClassOf"} xref: Orphanet:590 {source="OMIM:616227", source="MONDO:subClassOf"} xref: UMLS:C4015596 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018144 {source="ORDO:353327/btnt"} ! congenital myasthenic syndromes with glycosylation defect -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:616227"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110658", source="MONDO:Redundant", source="OMIM:616227"} ! congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28287 ! ALG14 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28287 {source="mim2gene_medgen"} ! ALG14 @@ -283199,11 +287892,13 @@ property_value: confidence "3.24884739376658" xsd:double id: MONDO:0014543 name: congenital myasthenic syndrome 14 def: "Any congenital myasthenic syndromes with glycosylation defect in which the cause of the disease is a mutation in the ALG2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ALG2 congenital myasthenic syndromes with glycosylation defect" EXACT [MONDO:design_pattern] synonym: "CMS14" EXACT [DOID:0110669, MONDO:Lexical, OMIM:616228] synonym: "CMSTA3" EXACT [DOID:0110669] synonym: "congenital myasthenic syndrome 14, with tubular aggregates" EXACT [DOID:0110669] synonym: "congenital myasthenic syndrome type 14" EXACT [DOID:0110669, MONDORULE:2] synonym: "congenital myasthenic syndrome with tubular aggregates 3" EXACT [DOID:0110669] +synonym: "congenital myasthenic syndromes with glycosylation defect caused by mutation in ALG2" EXACT [MONDO:design_pattern] synonym: "myasthenic syndrome, congenital, 14" RELATED [MONDO:Lexical, OMIM:616228] synonym: "myasthenic syndrome, congenital, 14; CMS14" RELATED [OMIM:616228] synonym: "myasthenic syndrome, congenital, type 14" EXACT [MONDORULE:2, OMIM:616228] @@ -283244,11 +287939,13 @@ id: MONDO:0014545 name: progressive myoclonic epilepsy type 8 def: "Any progressive myoclonic epilepsy in which the cause of the disease is a mutation in the CERS1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:424027"} +synonym: "CERS1 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern] synonym: "epilepsy, progressive myoclonic, 8" RELATED [MONDO:Lexical, OMIM:616230] synonym: "epilepsy, progressive myoclonic, 8; EPM8" RELATED [OMIM:616230] synonym: "epilepsy, progressive myoclonic, type 8" EXACT [MONDORULE:1, OMIM:616230] synonym: "EPM8" EXACT [MONDO:Lexical, OMIM:616230, Orphanet:424027] synonym: "PME type 8" EXACT [Orphanet:424027] +synonym: "progressive myoclonic epilepsy caused by mutation in CERS1" EXACT [MONDO:design_pattern] synonym: "progressive myoclonic epilepsy due to CERS1 deficiency" EXACT [Orphanet:424027] synonym: "progressive myoclonus epilepsy type 8" EXACT [Orphanet:424027] xref: ICD10:G40.3 {source="ORDO:424027/ntbt", source="Orphanet:424027", source="ORDO:424027/attributed"} @@ -283287,15 +287984,17 @@ def: "Any combined oxidative phosphorylation deficiency in which the cause of th subset: ordo_disease {source="Orphanet:444458"} synonym: "combined oxidative phosphorylation deficiency 24" RELATED [MONDO:Lexical, OMIM:616239] synonym: "combined oxidative phosphorylation deficiency 24; COXPD24" RELATED [OMIM:616239] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in NARS2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 24" EXACT [MONDORULE:2, OMIM:616239] synonym: "COXPD24" EXACT [MONDO:Lexical, OMIM:616239, Orphanet:444458] +synonym: "NARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: EFO:0009034 {source="MONDO:equivalentTo"} xref: ICD10:G71.3 {source="Orphanet:444458", source="ORDO:444458/ntbt", source="ORDO:444458/attributed"} xref: OMIM:616239 {source="ORDO:444458/e", source="Orphanet:444458", source="MONDO:equivalentTo"} xref: Orphanet:444458 {source="MONDO:equivalentTo"} xref: UMLS:C4015643 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:616239", source="OMIM:616239"} ! combined oxidative phosphorylation deficiency -is_a: MONDO:0018157 {source="Orphanet:444458"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis +is_a: MONDO:0018157 {source="EFO:0009034", source="Orphanet:444458"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26274 ! NARS2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26274 {source="mim2gene_medgen"} ! NARS2 @@ -283305,8 +288004,10 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0014548 name: long QT syndrome 14 def: "Any long QT syndrome in which the cause of the disease is a mutation in the CALM1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CALM1 long QT syndrome" EXACT [MONDO:design_pattern] synonym: "long QT syndrome 14" EXACT [MONDO:Lexical, OMIM:616247] synonym: "long QT syndrome 14; LQT14" RELATED [OMIM:616247] +synonym: "long QT syndrome caused by mutation in CALM1" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 14" EXACT [DOID:0110655, MONDORULE:2, OMIM:616247] synonym: "LQT14" EXACT [DOID:0110655, MONDO:Lexical, OMIM:616247] xref: DOID:0110655 {source="MONDO:equivalentTo"} @@ -283315,7 +288016,7 @@ xref: OMIM:616247 {source="DOID:0110655", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="OMIM:616247", source="MONDO:directSiblingOf", source="MONDO:subClassOf"} xref: Orphanet:768 {source="OMIM:616247", source="MONDO:subClassOf"} xref: UMLS:C4015671 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0002442 {source="MONDO:Redundant", source="OMIM:616247"} ! long QT syndrome +is_a: MONDO:0002442 {source="DOID:0110655", source="MONDO:Redundant", source="OMIM:616247"} ! long QT syndrome is_a: MONDO:0019171 {source="OMIM:616247", source="Orphanet:101016-prototype"} ! familial long QT syndrome intersection_of: MONDO:0002442 ! long QT syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1442 ! CALM1 @@ -283325,10 +288026,13 @@ property_value: confidence "0.3031550068587101" xsd:double [Term] id: MONDO:0014549 name: lethal congenital contracture syndrome 6 +def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ZBTB42 gene." [MONDO:design_pattern] synonym: "LCCS6" RELATED [MONDO:Lexical, OMIM:616248] synonym: "lethal congenital contracture syndrome 6" EXACT [MONDO:Lexical, OMIM:616248] synonym: "lethal congenital contracture syndrome 6; LCCS6" RELATED [OMIM:616248] +synonym: "lethal congenital contracture syndrome caused by mutation in ZBTB42" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 6" EXACT [MONDORULE:1, OMIM:616248] +synonym: "ZBTB42 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616248 {source="MONDO:equivalentTo"} xref: UMLS:C4015686 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017436 {source="DC-OMIM:616248", source="OMIM:616248"} ! lethal congenital contracture syndrome @@ -283340,8 +288044,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/32 id: MONDO:0014550 name: long QT syndrome 15 def: "Any long QT syndrome in which the cause of the disease is a mutation in the CALM2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CALM2 long QT syndrome" EXACT [MONDO:design_pattern] synonym: "long QT syndrome 15" EXACT [MONDO:Lexical, OMIM:616249] synonym: "long QT syndrome 15; LQT15" RELATED [OMIM:616249] +synonym: "long QT syndrome caused by mutation in CALM2" EXACT [MONDO:design_pattern] synonym: "long QT syndrome type 15" EXACT [DOID:0110656, MONDORULE:2, OMIM:616249] synonym: "LQT15" EXACT [DOID:0110656, MONDO:Lexical, OMIM:616249] xref: DOID:0110656 {source="MONDO:equivalentTo"} @@ -283350,7 +288056,7 @@ xref: OMIM:616249 {source="DOID:0110656", source="MONDO:equivalentTo"} xref: Orphanet:101016 {source="OMIM:616249", source="MONDO:directSiblingOf", source="MONDO:subClassOf"} xref: Orphanet:768 {source="OMIM:616249", source="MONDO:subClassOf"} xref: UMLS:C4015695 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0002442 {source="MONDO:Redundant", source="OMIM:616249"} ! long QT syndrome +is_a: MONDO:0002442 {source="DOID:0110656", source="MONDO:Redundant", source="OMIM:616249"} ! long QT syndrome is_a: MONDO:0019171 {source="OMIM:616249", source="Orphanet:101016-prototype"} ! familial long QT syndrome intersection_of: MONDO:0002442 ! long QT syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1445 ! CALM2 @@ -283468,13 +288174,15 @@ synonym: "ataxia-oculomotor apraxia 4" RELATED [MONDO:Lexical, OMIM:616267] synonym: "ataxia-oculomotor apraxia 4; AOA4" RELATED [OMIM:616267] synonym: "ataxia-oculomotor apraxia type 4" EXACT [MONDORULE:1, OMIM:616267] synonym: "ataxia-oculomotor apraxia-4" RELATED [GARD:0013111] +synonym: "oculomotor apraxia or related oculomotor disease caused by mutation in PNKP" EXACT [MONDO:design_pattern] +synonym: "PNKP oculomotor apraxia or related oculomotor disease" EXACT [MONDO:design_pattern] xref: EFO:0009016 {source="MONDO:equivalentTo"} xref: GARD:0013111 {source="MONDO:equivalentTo"} xref: OMIM:616267 {source="ORDO:459033/e", source="Orphanet:459033", source="MONDO:equivalentTo"} xref: Orphanet:459033 {source="MONDO:equivalentTo"} xref: UMLS:C4225397 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018265 {source="Orphanet:459033"} ! rare disorder with dystonia and other neurologic or systemic manifestation -is_a: MONDO:0020047 {source="Orphanet:459033"} ! autosomal recessive syndromic cerebellar ataxia +is_a: MONDO:0020047 {source="EFO:0009016", source="Orphanet:459033"} ! autosomal recessive syndromic cerebellar ataxia is_a: MONDO:0020127 {source="Orphanet:459033"} ! genetic peripheral neuropathy is_a: MONDO:0020258 {source="Orphanet:459033"} ! oculomotor apraxia or related oculomotor disease intersection_of: MONDO:0020258 ! oculomotor apraxia or related oculomotor disease @@ -283529,6 +288237,8 @@ id: MONDO:0014560 name: amelogenesis imperfecta type 1F def: "Any amelogenesis imperfecta in which the cause of the disease is a mutation in the AMBN gene." [MONDO:patterns/disease_series_by_gene] synonym: "AI1F" EXACT [DOID:0110065, MONDO:Lexical, OMIM:616270] +synonym: "AMBN amelogenesis imperfecta" EXACT [MONDO:design_pattern] +synonym: "amelogenesis imperfecta caused by mutation in AMBN" EXACT [MONDO:design_pattern] synonym: "amelogenesis imperfecta hypoplastic type IF" EXACT [DOID:0110065] synonym: "amelogenesis imperfecta type IF" EXACT [DOID:0110065] synonym: "amelogenesis imperfecta, hypoplastic type 1F" RELATED [OMIM:616270] @@ -283542,7 +288252,7 @@ xref: Orphanet:100031 {source="OMIM:616270", source="MONDO:subClassOf"} xref: UMLS:C4225394 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease is_a: MONDO:0015047 {source="MONDOLEX:0014560", source="ORDO:100031/btnt"} ! hypoplastic amelogenesis imperfecta -is_a: MONDO:0019507 {source="MONDO:Redundant", source="OMIM:616270"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="DOID:0110065", source="MONDO:Redundant", source="OMIM:616270"} ! amelogenesis imperfecta intersection_of: MONDO:0019507 ! amelogenesis imperfecta intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/452 ! AMBN relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/452 {source="mim2gene_medgen"} ! AMBN @@ -283554,12 +288264,14 @@ name: 3-methylglutaconic aciduria with cataracts, neurologic involvement and neu def: "Any 3-methylglutaconic aciduria in which the cause of the disease is a mutation in the CLPB gene." [MONDO:patterns/disease_series_by_gene] comment: Present because it is in the OMIM series. {source="OMIM:616271"} subset: ordo_disease {source="Orphanet:445038"} +synonym: "3-methylglutaconic aciduria caused by mutation in CLPB" EXACT [MONDO:design_pattern] synonym: "3-methylglutaconic aciduria type 7" EXACT [DOID:0110003] synonym: "3-methylglutaconic aciduria type VII" EXACT [DOID:0110003] synonym: "3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia" RELATED [MONDO:Lexical, OMIM:616271] synonym: "3-METHYLGLUTACONIC aciduria with cataracts, neurologic involvement, and neutropenia; MEGCANN" RELATED [OMIM:616271] synonym: "3-Methylglutaconic aciduria, type 7" RELATED [OMIM:616271] synonym: "3-methylglutaconic aciduria-cataract-neurologic involvement-neutropenia syndrome" EXACT [Orphanet:445038] +synonym: "CLPB 3-methylglutaconic aciduria" EXACT [MONDO:design_pattern] synonym: "MEGCANN" EXACT [DOID:0110003, MONDO:Lexical, OMIM:616271] synonym: "MGA7" EXACT [DOID:0110003, Orphanet:445038] synonym: "MGCA7" EXACT [DOID:0110003] @@ -283570,7 +288282,7 @@ xref: OMIM:616271 {source="Orphanet:445038", source="DOID:0110003", source="MOND xref: Orphanet:445038 {source="DOID:0110003", source="MONDO:equivalentTo"} xref: UMLS:C4225393 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015919 {source="Orphanet:445038"} ! syndromic neurometabolic disease with non-X-linked intellectual disability -is_a: MONDO:0017359 {source="DC-OMIM:616271", source="DOID:0110003", source="MONDO:Entailed", source="OMIM:616271", source="Orphanet:445038"} ! 3-methylglutaconic aciduria +is_a: MONDO:0017359 {source="DC-OMIM:616271", source="DOID:0110003", source="EFO:0009014", source="MONDO:Entailed", source="OMIM:616271", source="Orphanet:445038"} ! 3-methylglutaconic aciduria is_a: MONDO:0019058 {source="Orphanet:445038"} ! neurometabolic disease is_a: MONDO:0020228 {source="Orphanet:445038"} ! cataract associated with a metabolic disease intersection_of: MONDO:0017359 ! 3-methylglutaconic aciduria @@ -283614,10 +288326,12 @@ property_value: confidence "1.3333333333333335" xsd:double id: MONDO:0014564 name: congenital bile acid synthesis defect 5 def: "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ABCD3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ABCD3 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern] synonym: "bile acid synthesis defect, congenital, 5" RELATED [MONDO:Lexical, OMIM:616278] synonym: "bile acid synthesis defect, congenital, 5; CBAS5" RELATED [OMIM:616278] synonym: "bile acid synthesis defect, congenital, type 5" EXACT [MONDORULE:1, OMIM:616278] synonym: "CBAS5" EXACT [DOID:0111066, MONDO:Lexical, OMIM:616278] +synonym: "congenital bile acid synthesis defect caused by mutation in ABCD3" EXACT [MONDO:design_pattern] synonym: "congenital bile acid synthesis defect type 5" EXACT [DOID:0111066, MONDORULE:1] xref: DOID:0111066 {source="MONDO:equivalentTo"} xref: OMIM:616278 {source="DOID:0111066", source="MONDO:equivalentTo"} @@ -283635,13 +288349,15 @@ synonym: "cataract 43" EXACT [MONDO:Lexical, OMIM:616279] synonym: "cataract 43; CTRCT43" RELATED [OMIM:616279] synonym: "cataract type 43" EXACT [DOID:0110259, MONDORULE:2, OMIM:616279] synonym: "CTRCT43" EXACT [DOID:0110259, MONDO:Lexical, OMIM:616279] +synonym: "early-onset non-syndromic cataract caused by mutation in UNC45B" EXACT [MONDO:design_pattern] +synonym: "UNC45B early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] xref: DOID:0110259 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110259"} xref: OMIM:616279 {source="DOID:0110259", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="MONDO:subClassOf", source="OMIM:616279"} xref: Orphanet:98991 {source="MONDO:subClassOf", source="OMIM:616279", source="MONDO:relatedTo"} xref: UMLS:C4225389 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:616279"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110259", source="MONDO:Redundant", source="OMIM:616279"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14304 ! UNC45B @@ -283656,18 +288372,20 @@ subset: ordo_disease {source="Orphanet:397735"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2U" EXACT [DOID:0110173] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MARS mutation" EXACT [Orphanet:397735] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2U" EXACT [DOID:0110173] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in MARS" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2U" RELATED [OMIM:616280] synonym: "Charcot-Marie-Tooth disease, axonal, type 2U" RELATED [MONDO:Lexical, OMIM:616280] synonym: "Charcot-Marie-Tooth disease, axonal, type 2U; CMT2U" RELATED [OMIM:616280] synonym: "Charcot-Marie-Tooth neuropathy type 2U" EXACT [DOID:0110173] synonym: "Charcot-Marie-Tooth neuropathy, type 2U" RELATED [OMIM:616280] synonym: "CMT2U" EXACT [DOID:0110173, MONDO:Lexical, OMIM:616280, Orphanet:397735] +synonym: "MARS Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110173 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="ORDO:397735/attributed", source="ORDO:397735/ntbt", source="Orphanet:397735", source="DOID:0110173"} xref: OMIM:616280 {source="ORDO:397735/e", source="Orphanet:397735", source="MONDO:equivalentTo", source="DOID:0110173"} xref: Orphanet:397735 {source="OMIM:616280", source="MONDO:equivalentTo", source="DOID:0110173"} xref: UMLS:C4084821 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:616280", source="Orphanet:397735/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110173/inferred", source="MONDO:Redundant", source="OMIM:616280", source="Orphanet:397735/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110173", source="Orphanet:397735"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6898 ! MARS @@ -283695,8 +288413,10 @@ id: MONDO:0014568 name: hereditary spastic paraplegia 73 def: "Autosomal dominant spastic paraplegia type 73 (SPG73) is a pure form of hereditary spastic paraplegia characterized by adult onset of crural spastic paraparesis, hyperreflexia, extensor plantar responses, proximal muscle weakness, mild muscle atrophy, decreased vibration sensation at ankles, and mild urinary dysfunction. foot deformities have been reported to eventually occur in some patients. No abnormalities are noted on brain magnetic resonance imaging and peripheral nerve conduction velocity studies." [Orphanet:444099] subset: ordo_disease {source="Orphanet:444099"} +synonym: "autosomal dominant pure spastic paraplegia caused by mutation in CPT1C" EXACT [MONDO:design_pattern] synonym: "autosomal dominant spastic paraplegia 73" EXACT [DOID:0110818] synonym: "autosomal dominant spastic paraplegia type 73" EXACT [DOID:0110818] +synonym: "CPT1C autosomal dominant pure spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 73" EXACT [DOID:0110818, MONDORULE:2] synonym: "spastic paraplegia 73, autosomal dominant" RELATED [MONDO:Lexical, OMIM:616282] synonym: "spastic paraplegia 73, autosomal dominant; SPG73" RELATED [OMIM:616282] @@ -283707,7 +288427,7 @@ xref: OMIM:616282 {source="DOID:0110818", source="ORDO:444099/e", source="Orphan xref: Orphanet:444099 {source="DOID:0110818", source="MONDO:equivalentTo"} xref: UMLS:C4225387 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015088 {source="Orphanet:444099"} ! autosomal dominant pure spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:616282", source="Orphanet:444099/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110818", source="MONDO:Redundant", source="OMIM:616282", source="Orphanet:444099/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015088 ! autosomal dominant pure spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18540 ! CPT1C relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18540 {source="mim2gene_medgen"} ! CPT1C @@ -283716,9 +288436,12 @@ property_value: confidence "15.666666666666679" xsd:double [Term] id: MONDO:0014569 name: lethal congenital contracture syndrome 7 +def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the CNTNAP1 gene." [MONDO:design_pattern] +synonym: "CNTNAP1 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern] synonym: "LCCS7" RELATED [MONDO:Lexical, OMIM:616286] synonym: "lethal congenital contracture syndrome 7" EXACT [MONDO:Lexical, OMIM:616286] synonym: "lethal congenital contracture syndrome 7; LCCS7" RELATED [OMIM:616286] +synonym: "lethal congenital contracture syndrome caused by mutation in CNTNAP1" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 7" EXACT [MONDORULE:1, OMIM:616286] xref: OMIM:616286 {source="MONDO:equivalentTo"} xref: Orphanet:2680 {source="OMIM:616286", source="MONDO:subClassOf"} @@ -283733,9 +288456,12 @@ property_value: confidence "39.49999999999994" xsd:double [Term] id: MONDO:0014570 name: lethal congenital contracture syndrome 8 +def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADCY6 gene." [MONDO:design_pattern] +synonym: "ADCY6 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern] synonym: "LCCS8" RELATED [MONDO:Lexical, OMIM:616287] synonym: "lethal congenital contracture syndrome 8" EXACT [MONDO:Lexical, OMIM:616287] synonym: "lethal congenital contracture syndrome 8; LCCS8" RELATED [OMIM:616287] +synonym: "lethal congenital contracture syndrome caused by mutation in ADCY6" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 8" EXACT [MONDORULE:1, OMIM:616287] xref: OMIM:616287 {source="MONDO:equivalentTo"} xref: Orphanet:2680 {source="MONDO:subClassOf", source="OMIM:616287"} @@ -283751,6 +288477,8 @@ property_value: confidence "39.49999999999994" xsd:double id: MONDO:0014571 name: optic atrophy 8 def: "Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the ACO2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ACO2 autosomal recessive isolated optic atrophy" EXACT [MONDO:design_pattern] +synonym: "autosomal recessive isolated optic atrophy caused by mutation in ACO2" EXACT [MONDO:design_pattern] synonym: "OPA8" RELATED [MONDO:Lexical, OMIM:616289] synonym: "OPA9" RELATED [OMIM:616289] synonym: "optic atrophy 8" EXACT [MONDO:Lexical, OMIM:616289] @@ -283798,7 +288526,9 @@ def: "Any Cole-Carpenter syndrome in which the cause of the disease is a mutatio synonym: "CLCRP2" RELATED [MONDO:Lexical, OMIM:616294] synonym: "Cole-Carpenter syndrome 2" EXACT [MONDO:Lexical, OMIM:616294] synonym: "COLE-CARPENTER syndrome 2; CLCRP2" RELATED [OMIM:616294] +synonym: "Cole-Carpenter syndrome caused by mutation in SEC24D" EXACT [MONDO:design_pattern] synonym: "Cole-Carpenter syndrome type 2" EXACT [MONDORULE:1, OMIM:616294] +synonym: "SEC24D Cole-Carpenter syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616294 {source="MONDO:equivalentTo"} xref: Orphanet:2050 {source="MONDO:subClassOf", source="OMIM:616294"} xref: UMLS:C4225382 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -283830,14 +288560,16 @@ property_value: confidence "2.846153846153847" xsd:double id: MONDO:0014575 name: Singleton-Merten syndrome 2 def: "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the DDX58 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DDX58 singleton-Merten dysplasia" EXACT [MONDO:design_pattern] synonym: "SGMRT2" RELATED [MONDO:Lexical, OMIM:616298] +synonym: "singleton-Merten dysplasia caused by mutation in DDX58" EXACT [MONDO:design_pattern] synonym: "singleton-Merten syndrome 2" EXACT [MONDO:Lexical, OMIM:616298] synonym: "singleton-Merten syndrome 2; SGMRT2" RELATED [OMIM:616298] synonym: "singleton-Merten syndrome type 2" EXACT [MONDORULE:1, OMIM:616298] xref: OMIM:616298 {source="MONDO:equivalentTo"} xref: Orphanet:85191 {source="MONDO:subClassOf", source="OMIM:616298"} xref: UMLS:C4225380 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0008429 {source="ORDO:85191/btnt"} ! singleton-Merten dysplasia +is_a: MONDO:0008429 {source="OMIM:616298", source="ORDO:85191/btnt"} ! singleton-Merten dysplasia intersection_of: MONDO:0008429 ! singleton-Merten dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19102 ! DDX58 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19102 {source="mim2gene_medgen"} ! DDX58 @@ -283879,7 +288611,9 @@ id: MONDO:0014578 name: congenital myasthenic syndrome 17 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the LRP4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CMS17" EXACT [DOID:0110674, MONDO:Lexical, OMIM:616304] +synonym: "congenital myasthenic syndrome caused by mutation in LRP4" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 17" EXACT [DOID:0110674, MONDORULE:2] +synonym: "LRP4 congenital myasthenic syndrome" EXACT [MONDO:design_pattern] synonym: "myasthenic syndrome, congenital, 17" RELATED [MONDO:Lexical, OMIM:616304] synonym: "myasthenic syndrome, congenital, 17; CMS17" RELATED [OMIM:616304] synonym: "myasthenic syndrome, congenital, type 17" EXACT [MONDORULE:2, OMIM:616304] @@ -283887,7 +288621,7 @@ xref: DOID:0110674 {source="MONDO:equivalentTo"} xref: OMIM:616304 {source="DOID:0110674", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:616304", source="MONDO:subClassOf"} xref: UMLS:C4225377 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:616304"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110674", source="MONDO:Redundant", source="OMIM:616304"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6696 ! LRP4 @@ -283900,8 +288634,10 @@ name: Senior-Loken syndrome 8 def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the WDR19 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Senior-Loken syndrome 8" EXACT [MONDO:Lexical, OMIM:616307] synonym: "SENIOR-Loken syndrome 8; SLSN8" RELATED [OMIM:616307] +synonym: "Senior-Loken syndrome caused by mutation in WDR19" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome type 8" EXACT [MONDORULE:1, OMIM:616307] synonym: "SLSN8" RELATED [MONDO:Lexical, OMIM:616307] +synonym: "WDR19 Senior-Loken syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616307 {source="MONDO:equivalentTo"} xref: Orphanet:3156 {source="OMIM:616307", source="MONDO:subClassOf"} xref: UMLS:C4225376 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -283916,6 +288652,8 @@ name: intellectual disability, autosomal dominant 33 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the DPP6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 33" EXACT [DOID:0070063] synonym: "autosomal dominant non-syndromic intellectual disability 33" RELATED [DOID:0070063] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in DPP6" EXACT [MONDO:design_pattern] +synonym: "DPP6 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 33" RELATED [MONDO:Lexical, OMIM:616311] synonym: "mental retardation, autosomal dominant 33; MRD33" RELATED [OMIM:616311] synonym: "mental retardation, autosomal dominant type 33" EXACT [MONDORULE:2, OMIM:616311] @@ -283946,7 +288684,7 @@ xref: DOID:0110681 {source="MONDO:equivalentTo"} xref: OMIM:616313 {source="DOID:0110681", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:616313", source="MONDO:subClassOf"} xref: UMLS:C4225374 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:616313"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110681", source="MONDO:Redundant", source="OMIM:616313"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1961 {source="mim2gene_medgen"} ! CHRNB1 property_value: confidence "3.24884739376658" xsd:double @@ -283964,7 +288702,7 @@ xref: DOID:0110680 {source="MONDO:equivalentTo"} xref: OMIM:616314 {source="DOID:0110680", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:616314", source="MONDO:subClassOf"} xref: UMLS:C4225373 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:616314"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110680", source="MONDO:Redundant", source="OMIM:616314"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1961 {source="mim2gene_medgen"} ! CHRNB1 property_value: confidence "3.24884739376658" xsd:double @@ -283983,7 +288721,7 @@ xref: OMIM:616321 {source="DOID:0110666", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616321"} xref: Orphanet:98913 {source="MONDO:subClassOf", source="OMIM:616321"} xref: UMLS:C4225372 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:616321"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110666", source="MONDO:Redundant", source="OMIM:616321"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1965 {source="mim2gene_medgen"} ! CHRND property_value: confidence "3.24884739376658" xsd:double @@ -284002,7 +288740,7 @@ xref: OMIM:616322 {source="DOID:0110665", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616322"} xref: Orphanet:98913 {source="MONDO:subClassOf", source="OMIM:616322"} xref: UMLS:C4225371 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:616322"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110665", source="MONDO:Redundant", source="OMIM:616322"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1965 {source="mim2gene_medgen"} ! CHRND property_value: confidence "3.24884739376658" xsd:double @@ -284021,7 +288759,7 @@ xref: OMIM:616323 {source="DOID:0110664", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="MONDO:subClassOf", source="OMIM:616323"} xref: Orphanet:98913 {source="MONDO:subClassOf", source="OMIM:616323"} xref: UMLS:C4225370 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:616323"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110664", source="MONDO:Redundant", source="OMIM:616323"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1965 {source="mim2gene_medgen"} ! CHRND property_value: confidence "3.24884739376658" xsd:double @@ -284039,7 +288777,7 @@ xref: DOID:0110677 {source="MONDO:equivalentTo"} xref: OMIM:616324 {source="DOID:0110677", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:616324", source="MONDO:subClassOf"} xref: UMLS:C4225369 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:616324"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110677", source="MONDO:Redundant", source="OMIM:616324"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="MONDO:Redundant", source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1966 {source="mim2gene_medgen"} ! CHRNE property_value: confidence "3.24884739376658" xsd:double @@ -284050,14 +288788,16 @@ name: congenital myasthenic syndrome 9 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the MUSK gene." [MONDO:patterns/disease_series_by_gene] synonym: "CMS9" EXACT [DOID:0110670, MONDO:Lexical, OMIM:616325] synonym: "congenital myasthenic syndrome 9, associated with acetylcholine receptor deficiency" EXACT [DOID:0110670] +synonym: "congenital myasthenic syndrome caused by mutation in MUSK" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 9" EXACT [DOID:0110670, MONDORULE:1] +synonym: "MUSK congenital myasthenic syndrome" EXACT [MONDO:design_pattern] synonym: "myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616325] synonym: "myasthenic syndrome, congenital, 9, associated with acetylcholine receptor deficiency; CMS9" RELATED [OMIM:616325] xref: DOID:0110670 {source="MONDO:equivalentTo"} xref: OMIM:616325 {source="DOID:0110670", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:616325", source="MONDO:subClassOf"} xref: UMLS:C4225368 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:616325"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110670", source="MONDO:Redundant", source="OMIM:616325"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7525 ! MUSK @@ -284075,17 +288815,19 @@ synonym: "CMS11" EXACT [DOID:0110675, MONDO:Lexical, OMIM:616326] synonym: "CMS1E" EXACT [DOID:0110675] synonym: "congenital myasthenic syndrome 11 associated with acetylcholine receptor deficiency" EXACT [DOID:0110675] synonym: "congenital myasthenic syndrome 1e" EXACT [DOID:0110675] +synonym: "congenital myasthenic syndrome caused by mutation in RAPSN" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 11" EXACT [DOID:0110675, MONDORULE:2] synonym: "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency" RELATED [MONDO:Lexical, OMIM:616326] synonym: "myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency; CMS11" RELATED [OMIM:616326] synonym: "myasthenic syndrome, congenital, Ie" RELATED [OMIM:616326] synonym: "myasthenic syndrome, congenital, Ie, formerly" RELATED [OMIM:616326] +synonym: "RAPSN congenital myasthenic syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110675 {source="MONDO:equivalentTo"} xref: MESH:C563831 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:616326 {source="DOID:0110675", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:616326", source="MONDO:subClassOf"} xref: UMLS:C1837094 {source="NCBI:mim2gene_medline"} -is_a: MONDO:0018940 {source="MESH:C563831", source="MONDO:Redundant", source="OMIM:616326"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110675", source="MESH:C563831", source="MONDO:Redundant", source="OMIM:616326"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9863 ! RAPSN @@ -284115,17 +288857,19 @@ id: MONDO:0014590 name: congenital myasthenic syndrome 18 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SNAP25 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CMS18" EXACT [DOID:0110683, MONDO:Lexical, OMIM:616330] +synonym: "congenital myasthenic syndrome caused by mutation in SNAP25" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 18" EXACT [DOID:0110683, MONDORULE:2] synonym: "myasthenic syndrome, congenital, 18" RELATED [MONDO:Lexical, OMIM:616330] synonym: "myasthenic syndrome, congenital, 18, with intellectual disability and ataxia" RELATED [OMIM:616330] synonym: "myasthenic syndrome, congenital, 18; CMS18" RELATED [OMIM:616330] synonym: "myasthenic syndrome, congenital, type 18" EXACT [MONDORULE:2, OMIM:616330] +synonym: "SNAP25 congenital myasthenic syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110683 {source="MONDO:equivalentTo"} xref: OMIM:616330 {source="DOID:0110683", source="MONDO:equivalentTo"} xref: Orphanet:590 {source="OMIM:616330", source="MONDO:subClassOf"} xref: Orphanet:98914 {source="OMIM:616330", source="MONDO:subClassOf"} xref: UMLS:C4225364 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:616330"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110683", source="MONDO:Redundant", source="OMIM:616330"} ! congenital myasthenic syndrome is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11132 ! SNAP25 @@ -284136,8 +288880,10 @@ property_value: confidence "3.24884739376658" xsd:double id: MONDO:0014591 name: autosomal dominant Robinow syndrome 2 def: "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the DVL1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant Robinow syndrome caused by mutation in DVL1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant Robinow syndrome type 2" EXACT [DOID:0060765, MONDORULE:1] synonym: "DRS2" EXACT [DOID:0060765, MONDO:Lexical, OMIM:616331] +synonym: "DVL1 autosomal dominant Robinow syndrome" EXACT [MONDO:design_pattern] synonym: "Robinow syndrome, autosomal dominant 2" RELATED [MONDO:Lexical, OMIM:616331] synonym: "Robinow syndrome, autosomal dominant 2; DRS2" RELATED [OMIM:616331] synonym: "Robinow syndrome, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:616331] @@ -284148,7 +288894,7 @@ xref: Orphanet:3107 {source="MONDO:subClassOf", source="DOID:0060765", source="O xref: Orphanet:97360 {source="MONDO:subClassOf", source="DOID:0060765", source="OMIM:616331"} xref: UMLS:C4225363 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0008389 {source="MONDO:Entailed", source="MONDOLEX:0014591", source="ORDO:3107/btnt"} ! autosomal dominant Robinow syndrome -is_a: MONDO:0019978 {source="MONDO:Redundant", source="OMIM:616331"} ! Robinow syndrome +is_a: MONDO:0019978 {source="DOID:0060765", source="MONDO:Redundant", source="OMIM:616331"} ! Robinow syndrome intersection_of: MONDO:0008389 ! autosomal dominant Robinow syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3084 ! DVL1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3084 {source="mim2gene_medgen"} ! DVL1 @@ -284159,10 +288905,12 @@ id: MONDO:0014592 name: microcephaly and chorioretinopathy 3 def: "Any microcephaly and chorioretinopathy in which the cause of the disease is a mutation in the TUBGCP4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "MCCRP3" RELATED [MONDO:Lexical, OMIM:616335] +synonym: "microcephaly and chorioretinopathy caused by mutation in TUBGCP4" EXACT [MONDO:design_pattern] synonym: "microcephaly and chorioretinopathy type 3" EXACT [DOID:0080107, MONDORULE:1] synonym: "microcephaly and chorioretinopathy, autosomal recessive, 3" RELATED [MONDO:Lexical, OMIM:616335] synonym: "microcephaly and chorioretinopathy, autosomal recessive, 3; MCCRP3" RELATED [OMIM:616335] synonym: "microcephaly and chorioretinopathy, autosomal recessive, type 3" EXACT [MONDORULE:1, OMIM:616335] +synonym: "TUBGCP4 microcephaly and chorioretinopathy" EXACT [MONDO:design_pattern] xref: DOID:0080107 {source="MONDO:equivalentTo"} xref: OMIM:616335 {source="MONDO:equivalentTo", source="DOID:0080107"} xref: Orphanet:2518 {source="OMIM:616335", source="MONDO:subClassOf"} @@ -284178,6 +288926,8 @@ property_value: confidence "2.25" xsd:double id: MONDO:0014593 name: epileptic encephalopathy, early infantile, 29 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AARS gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AARS early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] +synonym: "early infantile epileptic encephalopathy caused by mutation in AARS" EXACT [MONDO:design_pattern] synonym: "EIEE29" RELATED [MONDO:Lexical, OMIM:616339] synonym: "epileptic encephalopathy, early infantile, 29" EXACT [MONDO:Lexical, OMIM:616339] synonym: "epileptic encephalopathy, early infantile, 29; EIEE29" RELATED [OMIM:616339] @@ -284196,11 +288946,13 @@ id: MONDO:0014594 name: autosomal dominant nonsyndromic deafness 67 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the OSBPL2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 67" EXACT [DOID:0110588] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in OSBPL2" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 67" EXACT [DOID:0110588, MONDORULE:2] synonym: "deafness, autosomal dominant 67" RELATED [MONDO:Lexical, OMIM:616340] synonym: "deafness, autosomal dominant 67; DFNA67" RELATED [OMIM:616340] synonym: "deafness, autosomal dominant type 67" EXACT [MONDORULE:2, OMIM:616340] synonym: "DFNA67" EXACT [DOID:0110588, MONDO:Lexical, OMIM:616340] +synonym: "OSBPL2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110588 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110588"} xref: OMIM:616340 {source="DOID:0110588", source="MONDO:equivalentTo"} @@ -284214,10 +288966,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/15 id: MONDO:0014595 name: epileptic encephalopathy, early infantile, 30 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SIK1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in SIK1" EXACT [MONDO:design_pattern] synonym: "EIEE30" RELATED [MONDO:Lexical, OMIM:616341] synonym: "epileptic encephalopathy, early infantile, 30" EXACT [MONDO:Lexical, OMIM:616341] synonym: "epileptic encephalopathy, early infantile, 30; EIEE30" RELATED [OMIM:616341] synonym: "epileptic encephalopathy, early infantile, type 30" EXACT [MONDORULE:2, OMIM:616341] +synonym: "SIK1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:616341 {source="MONDO:equivalentTo"} xref: Orphanet:1935 {source="OMIM:616341", source="MONDO:subClassOf"} xref: Orphanet:3451 {source="OMIM:616341", source="MONDO:subClassOf"} @@ -284249,6 +289003,8 @@ synonym: "IMD39" RELATED [MONDO:Lexical, OMIM:616345] synonym: "immunodeficiency 39" EXACT [MONDO:Lexical, OMIM:616345] synonym: "immunodeficiency 39; IMD39" RELATED [OMIM:616345] synonym: "immunodeficiency type 39" EXACT [MONDORULE:2, OMIM:616345] +synonym: "IRF7 primary immunodeficiency disease" EXACT [MONDO:design_pattern] +synonym: "primary immunodeficiency disease caused by mutation in IRF7" EXACT [MONDO:design_pattern] xref: OMIM:616345 {source="MONDO:equivalentTo"} xref: UMLS:C4225358 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003778 {source="DC-OMIM:616345"} ! primary immunodeficiency disease @@ -284261,6 +289017,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/61 id: MONDO:0014598 name: epileptic encephalopathy, early infantile, 31 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DNM1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DNM1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] +synonym: "early infantile epileptic encephalopathy caused by mutation in DNM1" EXACT [MONDO:design_pattern] synonym: "EIEE31" RELATED [MONDO:Lexical, OMIM:616346] synonym: "epileptic encephalopathy, early infantile, 31" EXACT [MONDO:Lexical, OMIM:616346] synonym: "epileptic encephalopathy, early infantile, 31; EIEE31" RELATED [OMIM:616346] @@ -284282,6 +289040,8 @@ name: intellectual disability, autosomal dominant 34 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the COL4A3BP gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 34" EXACT [DOID:0070064] synonym: "autosomal dominant non-syndromic intellectual disability 34" RELATED [DOID:0070064] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in COL4A3BP" EXACT [MONDO:design_pattern] +synonym: "COL4A3BP autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 34" RELATED [MONDO:Lexical, OMIM:616351] synonym: "mental retardation, autosomal dominant 34; MRD34" RELATED [OMIM:616351] synonym: "mental retardation, autosomal dominant type 34" EXACT [MONDORULE:2, OMIM:616351] @@ -284301,9 +289061,11 @@ name: dyskeratosis congenita, autosomal recessive 6 def: "Any dyskeratosis congenita in which the cause of the disease is a mutation in the PARN gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive dyskeratosis congenita 6" RELATED [DOID:0070024] synonym: "DKCB6" EXACT [DOID:0070024, MONDO:Lexical, OMIM:616353] +synonym: "dyskeratosis congenita caused by mutation in PARN" EXACT [MONDO:design_pattern] synonym: "dyskeratosis congenita, autosomal recessive 6" EXACT [MONDO:Lexical, OMIM:616353] synonym: "dyskeratosis congenita, autosomal recessive 6; DKCB6" RELATED [OMIM:616353] synonym: "dyskeratosis congenita, autosomal recessive type 6" EXACT [MONDORULE:1, OMIM:616353] +synonym: "PARN dyskeratosis congenita" EXACT [MONDO:design_pattern] xref: DOID:0070024 {source="MONDO:equivalentTo"} xref: OMIM:616353 {source="DOID:0070024", source="MONDO:equivalentTo"} xref: Orphanet:1775 {source="MONDO:subClassOf", source="OMIM:616353"} @@ -284320,10 +289082,12 @@ id: MONDO:0014601 name: autosomal recessive spinocerebellar ataxia 20 def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the SNX14 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_malformation_syndrome {source="Orphanet:397709"} +synonym: "autosomal recessive cerebellar ataxia caused by mutation in SNX14" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spinocerebellar ataxia type 20" EXACT [DOID:0080066, MONDORULE:2, Orphanet:397709] synonym: "intellectual disability-coarse face-macrocephaly-cerebellar hypoplasia syndrome" EXACT [Orphanet:397709] synonym: "intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome" RELATED [Orphanet:397709] synonym: "SCAR20" EXACT [MONDO:Lexical, OMIM:616354, Orphanet:397709] +synonym: "SNX14 autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern] synonym: "spinocerebellar ataxia, autosomal recessive 20" RELATED [MONDO:Lexical, OMIM:616354] synonym: "spinocerebellar ataxia, autosomal recessive 20; SCAR20" RELATED [OMIM:616354] synonym: "spinocerebellar ataxia, autosomal recessive type 20" EXACT [MONDORULE:2, OMIM:616354] @@ -284370,7 +289134,9 @@ id: MONDO:0014603 name: autosomal dominant nonsyndromic deafness 40 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CRYM gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 40" EXACT [DOID:0110566] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CRYM" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 40" EXACT [DOID:0110566, MONDORULE:2] +synonym: "CRYM autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal dominant 40" RELATED [MONDO:Lexical, OMIM:616357] synonym: "deafness, autosomal dominant 40; DFNA40" RELATED [OMIM:616357] synonym: "deafness, autosomal dominant type 40" EXACT [MONDORULE:2, OMIM:616357] @@ -284388,6 +289154,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24 id: MONDO:0014604 name: Parkinson disease 21 def: "Any hereditary late onset Parkinson disease in which the cause of the disease is a mutation in the DNAJC13 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DNAJC13 hereditary late onset Parkinson disease" EXACT [MONDO:design_pattern] +synonym: "hereditary late onset Parkinson disease caused by mutation in DNAJC13" EXACT [MONDO:design_pattern] synonym: "PARK21" RELATED [MONDO:Lexical, OMIM:616361] synonym: "Parkinson disease 21" EXACT [MONDO:Lexical, OMIM:616361] synonym: "Parkinson disease 21; PARK21" RELATED [OMIM:616361] @@ -284456,10 +289224,12 @@ id: MONDO:0014607 name: epileptic encephalopathy, early infantile, 32 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the KCNA2 gene." [MONDO:patterns/disease_series_by_gene] subset: clingen +synonym: "early infantile epileptic encephalopathy caused by mutation in KCNA2" EXACT [MONDO:design_pattern] synonym: "EIEE32" RELATED [MONDO:Lexical, OMIM:616366] synonym: "epileptic encephalopathy, early infantile, 32" EXACT [MONDO:Lexical, OMIM:616366] synonym: "epileptic encephalopathy, early infantile, 32; EIEE32" RELATED [OMIM:616366] synonym: "epileptic encephalopathy, early infantile, type 32" EXACT [MONDORULE:2, OMIM:616366] +synonym: "KCNA2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:616366 {source="MONDO:equivalentTo"} xref: UMLS:C4225350 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:616366", source="OMIM:616366"} ! early infantile epileptic encephalopathy @@ -284510,7 +289280,7 @@ is_a: MONDO:0015329 {source="Orphanet:444077"} ! malformation syndrome with shor is_a: MONDO:0015506 {source="Orphanet:444077"} ! rare syndrome with cardiac malformations is_a: MONDO:0015983 {source="Orphanet:444077"} ! rare genetic syndromic intellectual disability is_a: MONDO:0016565 {source="Orphanet:444077"} ! syndromic obesity -is_a: MONDO:0019066 {source="Orphanet:444077", source="Orphanet:444077/inferred"} ! syndrome with brachydactyly +is_a: MONDO:0019066 {source="EFO:0009031", source="Orphanet:444077", source="Orphanet:444077/inferred"} ! syndrome with brachydactyly relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17869 {source="mim2gene_medgen"} ! AFF4 property_value: confidence "6.5" xsd:double @@ -284543,6 +289313,8 @@ id: MONDO:0014611 name: multiple mitochondrial dysfunctions syndrome 4 def: "Any fatal multiple mitochondrial dysfunctions syndrome in which the cause of the disease is a mutation in the ISCA2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:457406"} +synonym: "fatal multiple mitochondrial dysfunctions syndrome caused by mutation in ISCA2" EXACT [MONDO:design_pattern] +synonym: "ISCA2 fatal multiple mitochondrial dysfunctions syndrome" EXACT [MONDO:design_pattern] synonym: "MMDS4" RELATED [MONDO:Lexical, OMIM:616370] synonym: "multiple mitochondrial dysfunctions syndrome 4" EXACT [MONDO:Lexical, OMIM:616370] synonym: "multiple mitochondrial dysfunctions syndrome 4; MMDS4" RELATED [OMIM:616370] @@ -284564,7 +289336,9 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014612 name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4 def: "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the PARN gene." [MONDO:patterns/disease_series_by_gene] +synonym: "PARN pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern] synonym: "PFBMFT4" RELATED [MONDO:Lexical, OMIM:616371] +synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in PARN" EXACT [MONDO:design_pattern] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 4" EXACT [MONDO:Lexical, OMIM:616371] synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 4; PFBMFT4" RELATED [OMIM:616371] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-Related, type 4" EXACT [MONDORULE:1, OMIM:616371] @@ -284583,9 +289357,11 @@ id: MONDO:0014613 name: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 def: "Any pulmonary fibrosis and/or bone marrow failure, Telomere-related in which the cause of the disease is a mutation in the RTEL1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "PFBMFT3" RELATED [MONDO:Lexical, OMIM:616373] +synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related caused by mutation in RTEL1" EXACT [MONDO:design_pattern] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3" EXACT [MONDO:Lexical, OMIM:616373] synonym: "pulmonary fibrosis and/or bone marrow failure, TELOMERE-RELATED, 3; PFBMFT3" RELATED [OMIM:616373] synonym: "pulmonary fibrosis and/or bone marrow failure, Telomere-Related, type 3" EXACT [MONDORULE:1, OMIM:616373] +synonym: "RTEL1 pulmonary fibrosis and/or bone marrow failure, Telomere-related" EXACT [MONDO:design_pattern] xref: OMIM:616373 {source="MONDO:equivalentTo"} xref: Orphanet:2032 {source="OMIM:616373", source="MONDO:subClassOf"} xref: UMLS:C4225346 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -284647,6 +289423,8 @@ name: intellectual disability, autosomal dominant 38 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the EEF1A2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 38" EXACT [DOID:0070068] synonym: "autosomal dominant non-syndromic intellectual disability 38" RELATED [DOID:0070068] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in EEF1A2" EXACT [MONDO:design_pattern] +synonym: "EEF1A2 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 38" RELATED [MONDO:Lexical, OMIM:616393] synonym: "mental retardation, autosomal dominant 38; MRD38" RELATED [OMIM:616393] synonym: "mental retardation, autosomal dominant type 38" EXACT [MONDORULE:2, OMIM:616393] @@ -284668,8 +289446,10 @@ property_value: confidence "0.7021739130434781" xsd:double id: MONDO:0014618 name: retinitis pigmentosa 71 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the IFT172 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "IFT172 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 71" EXACT [MONDO:Lexical, OMIM:616394] synonym: "retinitis pigmentosa 71; RP71" RELATED [OMIM:616394] +synonym: "retinitis pigmentosa caused by mutation in IFT172" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 71" EXACT [DOID:0110363, MONDORULE:2, OMIM:616394] synonym: "RP71" EXACT [DOID:0110363, MONDO:Lexical, OMIM:616394] xref: DOID:0110363 {source="MONDO:equivalentTo"} @@ -284704,12 +289484,14 @@ def: "Any myoclonus-dystonia syndrome in which the cause of the disease is a mut synonym: "dystonia 26, myoclonic" RELATED [MONDO:Lexical, OMIM:616398] synonym: "dystonia 26, myoclonic; DYT26" RELATED [OMIM:616398] synonym: "DYT26" RELATED [MONDO:Lexical, OMIM:616398] +synonym: "KCTD17 myoclonus-dystonia syndrome" EXACT [MONDO:design_pattern] synonym: "myoclonic dystonia type 26" EXACT [DOID:0090036, MONDORULE:2] +synonym: "myoclonus-dystonia syndrome caused by mutation in KCTD17" EXACT [MONDO:design_pattern] xref: DOID:0090036 {source="MONDO:equivalentTo"} xref: OMIM:616398 {source="DOID:0090036", source="MONDO:equivalentTo"} xref: UMLS:C4225341 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000903 {source="DOID:0090036"} ! myoclonus-dystonia syndrome -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:616398"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090036/inferred", source="MONDO:Redundant", source="OMIM:616398"} ! dystonic disorder intersection_of: MONDO:0000903 ! myoclonus-dystonia syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25705 ! KCTD17 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25705 {source="mim2gene_medgen"} ! KCTD17 @@ -284722,7 +289504,9 @@ def: "Any Brugada syndrome in which the cause of the disease is a mutation in th synonym: "BRGDA9" EXACT [DOID:0110226, MONDO:Lexical, OMIM:616399] synonym: "Brugada syndrome 9" EXACT [MONDO:Lexical, OMIM:616399] synonym: "Brugada syndrome 9; BRGDA9" RELATED [OMIM:616399] +synonym: "Brugada syndrome caused by mutation in KCND3" EXACT [MONDO:design_pattern] synonym: "Brugada syndrome type 9" EXACT [DOID:0110226, MONDORULE:1, OMIM:616399] +synonym: "KCND3 Brugada syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110226 {source="MONDO:equivalentTo"} xref: ICD10:I49.8 {source="DOID:0110226"} xref: OMIM:616399 {source="DOID:0110226", source="MONDO:equivalentTo"} @@ -284753,9 +289537,11 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014623 name: microcephaly 14, primary, autosomal recessive def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the SASS6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive primary microcephaly caused by mutation in SASS6" EXACT [MONDO:design_pattern] synonym: "MCPH14" RELATED [MONDO:Lexical, OMIM:616402] synonym: "microcephaly 14, primary, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616402] synonym: "microcephaly 14, primary, autosomal recessive; MCPH14" RELATED [OMIM:616402] +synonym: "SASS6 autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern] xref: OMIM:616402 {source="MONDO:equivalentTo"} xref: UMLS:C4225338 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016660 {source="DC-OMIM:616402", source="OMIM:616402"} ! autosomal recessive primary microcephaly @@ -284778,6 +289564,8 @@ is_a: MONDO:0003847 ! inherited genetic disease id: MONDO:0014625 name: epileptic encephalopathy, early infantile, 33 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the EEF1A2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in EEF1A2" EXACT [MONDO:design_pattern] +synonym: "EEF1A2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] synonym: "EIEE33" RELATED [MONDO:Lexical, OMIM:616409] synonym: "epileptic encephalopathy, early infantile, 33" EXACT [MONDO:Lexical, OMIM:616409] synonym: "epileptic encephalopathy, early infantile, 33; EIEE33" RELATED [OMIM:616409] @@ -284805,7 +289593,7 @@ xref: ICD10:G11.2 {source="Orphanet:458798", source="ORDO:458798/attributed", so xref: OMIM:616410 {source="Orphanet:458798", source="ORDO:458798/e", source="MONDO:equivalentTo"} xref: Orphanet:458798 {source="MONDO:equivalentTo"} xref: UMLS:C4225158 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019793 {source="Orphanet:458798"} ! autosomal dominant cerebellar ataxia type III +is_a: MONDO:0019793 {source="EFO:0009058", source="Orphanet:458798"} ! autosomal dominant cerebellar ataxia type III relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12335 {source="mim2gene_medgen"} ! TRPC3 property_value: confidence "15.5625" xsd:double @@ -284814,10 +289602,12 @@ id: MONDO:0014627 name: dystonia 27 def: "Any dystonic disorder in which the cause of the disease is a mutation in the COL6A3 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:464440"} +synonym: "COL6A3 dystonic disorder" EXACT [MONDO:design_pattern] synonym: "dystonia 27" EXACT [MONDO:Lexical, OMIM:616411] synonym: "dystonia 27; DYT27" RELATED [OMIM:616411] synonym: "Dystonia type 27" EXACT [MONDORULE:2, OMIM:616411] synonym: "dystonia type 27" EXACT [DOID:0090050, MONDORULE:2] +synonym: "dystonic disorder caused by mutation in COL6A3" EXACT [MONDO:design_pattern] synonym: "DYT27" RELATED [MONDO:Lexical, OMIM:616411] synonym: "primary dystonia, DYT27 type" RELATED [Orphanet:464440] xref: DOID:0090050 {source="MONDO:equivalentTo"} @@ -284826,7 +289616,7 @@ xref: OMIM:616411 {source="ORDO:464440/e", source="Orphanet:464440", source="DOI xref: Orphanet:464440 {source="DOID:0090050", source="MONDO:equivalentTo"} xref: UMLS:C4225336 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000479 {source="DOID:0090050"} ! segmental dystonia -is_a: MONDO:0003441 {source="MONDO:Redundant", source="OMIM:616411"} ! dystonic disorder +is_a: MONDO:0003441 {source="DOID:0090050/inferred", source="MONDO:Redundant", source="OMIM:616411"} ! dystonic disorder is_a: MONDO:0015990 {source="Orphanet:464440"} ! focal, segmental or multifocal dystonia intersection_of: MONDO:0003441 ! dystonic disorder intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2213 ! COL6A3 @@ -284840,7 +289630,9 @@ def: "Any bilateral striopallidodentate calcinosis in which the cause of the dis synonym: "basal ganglia calcification, idiopathic, 6" EXACT [MONDO:Lexical, OMIM:616413] synonym: "basal ganglia calcification, idiopathic, 6; IBGC6" RELATED [OMIM:616413] synonym: "basal ganglia calcification, idiopathic, type 6" EXACT [MONDORULE:1, OMIM:616413] +synonym: "bilateral striopallidodentate calcinosis caused by mutation in XPR1" EXACT [MONDO:design_pattern] synonym: "IBGC6" RELATED [MONDO:Lexical, OMIM:616413] +synonym: "XPR1 bilateral striopallidodentate calcinosis" EXACT [MONDO:design_pattern] xref: OMIM:616413 {source="MONDO:equivalentTo"} xref: Orphanet:1980 {source="OMIM:616413", source="MONDO:subClassOf"} xref: UMLS:C4225335 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -284911,13 +289703,15 @@ name: hypomyelinating leukodystrophy 10 def: "Any leukodystrophy in which the cause of the disease is a mutation in the PYCR2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "HLD10" EXACT [DOID:0060788, MONDO:Lexical, OMIM:616420] synonym: "hypomyelinating leukodystrophy type 10" EXACT [DOID:0060788, MONDORULE:2] +synonym: "leukodystrophy caused by mutation in PYCR2" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 10" RELATED [MONDO:Lexical, OMIM:616420] synonym: "leukodystrophy, hypomyelinating, 10; HLD10" RELATED [OMIM:616420] synonym: "leukodystrophy, hypomyelinating, type 10" EXACT [MONDORULE:2, OMIM:616420] +synonym: "PYCR2 leukodystrophy" EXACT [MONDO:design_pattern] xref: DOID:0060788 {source="MONDO:equivalentTo"} xref: OMIM:616420 {source="DOID:0060788", source="MONDO:equivalentTo"} xref: UMLS:C4225332 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019046 {source="DOID:0060788", source="MONDO:Entailed", source="OMIM:616420"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0060788", source="DOID:0060788/inferred", source="MONDO:Entailed", source="OMIM:616420"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30262 ! PYCR2 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/30262 {source="mim2gene_medgen"} ! PYCR2 @@ -284959,7 +289753,9 @@ def: "Any microphthalmia, isolated, with coloboma in which the cause of the dise synonym: "MCOPCB10" RELATED [MONDO:Lexical, OMIM:616428] synonym: "microphthalmia, isolated, with coloboma 10" EXACT [MONDO:Lexical, OMIM:616428] synonym: "microphthalmia, isolated, with coloboma 10; MCOPCB10" RELATED [OMIM:616428] +synonym: "microphthalmia, isolated, with coloboma caused by mutation in RBP4" EXACT [MONDO:design_pattern] synonym: "microphthalmia, isolated, with coloboma type 10" EXACT [MONDORULE:2, OMIM:616428] +synonym: "RBP4 microphthalmia, isolated, with coloboma" EXACT [MONDO:design_pattern] xref: OMIM:616428 {source="MONDO:equivalentTo"} xref: Orphanet:98938 {source="OMIM:616428", source="MONDO:subClassOf"} xref: UMLS:C4225330 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -284977,15 +289773,17 @@ def: "Any combined oxidative phosphorylation deficiency in which the cause of th subset: ordo_disease {source="Orphanet:447954"} synonym: "combined oxidative phosphorylation deficiency 25" RELATED [MONDO:Lexical, OMIM:616430] synonym: "combined oxidative phosphorylation deficiency 25; COXPD25" RELATED [OMIM:616430] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in MARS2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 25" EXACT [MONDORULE:2, OMIM:616430] synonym: "COXPD25" EXACT [MONDO:Lexical, OMIM:616430, Orphanet:447954] +synonym: "MARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: EFO:0009035 {source="MONDO:equivalentTo"} xref: ICD10:E88.8 {source="Orphanet:447954", source="ORDO:447954/attributed", source="ORDO:447954/ntbt"} xref: OMIM:616430 {source="Orphanet:447954", source="ORDO:447954/e", source="MONDO:equivalentTo"} xref: Orphanet:447954 {source="MONDO:equivalentTo"} xref: UMLS:C4225329 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:616430", source="OMIM:616430"} ! combined oxidative phosphorylation deficiency -is_a: MONDO:0018157 {source="Orphanet:447954"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis +is_a: MONDO:0018157 {source="EFO:0009035", source="Orphanet:447954"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis is_a: MONDO:0019058 {source="Orphanet:447954"} ! neurometabolic disease is_a: MONDO:0019589 {source="Orphanet:447954"} ! syndromic genetic deafness intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency @@ -285016,11 +289814,13 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12653/dock2-d id: MONDO:0014638 name: Fanconi anemia complementation group T def: "Any Fanconi anemia in which the cause of the disease is a mutation in the UBE2T gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi anemia caused by mutation in UBE2T" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type T" EXACT [DOID:0111081, MONDORULE:1] synonym: "FANCONI ANEMIA, complementation group T" RELATED [MONDO:Lexical, OMIM:616435] synonym: "FANCONI ANEMIA, complementation group T; FANCT" RELATED [OMIM:616435] synonym: "Fanconi Anemia, complementation group type T" EXACT [MONDORULE:1, OMIM:616435] synonym: "FANCT" EXACT [DOID:0111081, MONDO:Lexical, OMIM:616435] +synonym: "UBE2T Fanconi anemia" EXACT [MONDO:design_pattern] xref: DOID:0111081 {source="MONDO:equivalentTo"} xref: OMIM:616435 {source="DOID:0111081", source="MONDO:equivalentTo"} xref: UMLS:C4084840 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -285127,7 +289927,9 @@ def: "Autosomal recessive spastic paraplegia type 74 is a rare, genetic, spastic subset: ordo_disease {source="Orphanet:468661"} synonym: "autosomal recessive spastic paraplegia 74" EXACT [DOID:0110819] synonym: "autosomal recessive spastic paraplegia type 74" RELATED [Orphanet:468661] +synonym: "hereditary spastic paraplegia caused by mutation in IBA57" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 74" EXACT [DOID:0110819, MONDORULE:2] +synonym: "IBA57 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 74, autosomal recessive" RELATED [MONDO:Lexical, OMIM:616451] synonym: "spastic paraplegia 74, autosomal recessive; SPG74" RELATED [OMIM:616451] synonym: "SPG74" EXACT [DOID:0110819, MONDO:Lexical, OMIM:616451, Orphanet:468661] @@ -285136,7 +289938,7 @@ xref: OMIM:616451 {source="DOID:0110819", source="Orphanet:468661", source="MOND xref: Orphanet:468661 {source="DOID:0110819", source="MONDO:equivalentTo"} xref: UMLS:C4225322 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018550 {source="Orphanet:468661"} ! spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:616451", source="Orphanet:468661/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110819", source="MONDO:Redundant", source="OMIM:616451", source="Orphanet:468661/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/27302 ! IBA57 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/27302 {source="mim2gene_medgen"} ! IBA57 @@ -285166,8 +289968,10 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0014646 name: Zimmermann-Laband syndrome 2 def: "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the ATP6V1B2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ATP6V1B2 Zimmermann-Laband syndrome" EXACT [MONDO:design_pattern] synonym: "Zimmermann-Laband syndrome 2" EXACT [MONDO:Lexical, OMIM:616455] synonym: "Zimmermann-Laband syndrome 2; ZLS2" RELATED [OMIM:616455] +synonym: "Zimmermann-Laband syndrome caused by mutation in ATP6V1B2" EXACT [MONDO:design_pattern] synonym: "Zimmermann-Laband syndrome type 2" EXACT [MONDORULE:1, OMIM:616455] synonym: "ZLS2" RELATED [MONDO:Lexical, OMIM:616455] xref: OMIM:616455 {source="MONDO:equivalentTo"} @@ -285221,6 +290025,8 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0014649 name: intellectual disability, autosomal recessive 50 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the EDC3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in EDC3" EXACT [MONDO:design_pattern] +synonym: "EDC3 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 50" RELATED [MONDO:Lexical, OMIM:616460] synonym: "mental retardation, autosomal recessive 50; MRT50" RELATED [OMIM:616460] synonym: "mental retardation, autosomal recessive type 50" EXACT [MONDORULE:2, OMIM:616460] @@ -285254,9 +290060,11 @@ property_value: confidence "5.0" xsd:double id: MONDO:0014651 name: acrofacial dysostosis Cincinnati type def: "Any acrofacial dysostosis in which the cause of the disease is a mutation in the POLR1A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "acrofacial dysostosis caused by mutation in POLR1A" EXACT [MONDO:design_pattern] synonym: "acrofacial dysostosis, Cincinnati type" RELATED [MONDO:Lexical, OMIM:616462] synonym: "acrofacial dysostosis, Cincinnati type; AFDCIN" RELATED [OMIM:616462] synonym: "AFDCIN" RELATED [MONDO:Lexical, OMIM:616462] +synonym: "POLR1A acrofacial dysostosis" EXACT [MONDO:design_pattern] xref: DOID:0060353 {source="MONDO:equivalentTo"} xref: OMIM:616462 {source="DOID:0060353", source="MONDO:equivalentTo"} xref: UMLS:C4225317 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -285274,7 +290082,9 @@ def: "Any exudative vitreoretinopathy in which the cause of the disease is a mut synonym: "EVR6" RELATED [MONDO:Lexical, OMIM:616468] synonym: "exudative vitreoretinopathy 6" EXACT [MONDO:Lexical, OMIM:616468] synonym: "exudative vitreoretinopathy 6; EVR6" RELATED [OMIM:616468] +synonym: "exudative vitreoretinopathy caused by mutation in ZNF408" EXACT [MONDO:design_pattern] synonym: "exudative vitreoretinopathy type 6" EXACT [MONDORULE:1, OMIM:616468] +synonym: "ZNF408 exudative vitreoretinopathy" EXACT [MONDO:design_pattern] xref: OMIM:616468 {source="MONDO:equivalentTo"} xref: Orphanet:891 {source="OMIM:616468", source="MONDO:subClassOf"} xref: UMLS:C4225316 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -285290,8 +290100,10 @@ name: retinitis pigmentosa 72 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the ZNF408 gene." [MONDO:patterns/disease_series_by_gene] synonym: "retinitis pigmentosa 72" EXACT [MONDO:Lexical, OMIM:616469] synonym: "retinitis pigmentosa 72; RP72" RELATED [OMIM:616469] +synonym: "retinitis pigmentosa caused by mutation in ZNF408" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 72" EXACT [DOID:0110395, MONDORULE:2, OMIM:616469] synonym: "RP72" EXACT [DOID:0110395, MONDO:Lexical, OMIM:616469] +synonym: "ZNF408 retinitis pigmentosa" EXACT [MONDO:design_pattern] xref: DOID:0110395 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="DOID:0110395", source="MONDO:relatedTo"} xref: OMIM:616469 {source="DOID:0110395", source="MONDO:equivalentTo"} @@ -285305,9 +290117,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20 id: MONDO:0014654 name: Ullrich congenital muscular dystrophy 2 def: "Any Ullrich congenital muscular dystrophy in which the cause of the disease is a mutation in the COL12A1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "COL12A1 Ullrich congenital muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "UCMD2" RELATED [MONDO:Lexical, OMIM:616470] synonym: "Ullrich congenital muscular dystrophy 2" EXACT [MONDO:Lexical, OMIM:616470] synonym: "Ullrich congenital muscular dystrophy 2; UCMD2" RELATED [OMIM:616470] +synonym: "Ullrich congenital muscular dystrophy caused by mutation in COL12A1" EXACT [MONDO:design_pattern] synonym: "Ullrich congenital muscular dystrophy type 2" EXACT [MONDORULE:1, OMIM:616470] xref: OMIM:616470 {source="MONDO:equivalentTo"} xref: UMLS:C4225314 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -285323,8 +290137,10 @@ name: Bethlem myopathy 2 def: "Any Bethlem myopathy in which the cause of the disease is a mutation in the COL12A1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Bethlem myopathy 2" EXACT [MONDO:Lexical, OMIM:616471] synonym: "Bethlem MYOPATHY 2; BTHLM2" RELATED [OMIM:616471] +synonym: "Bethlem myopathy caused by mutation in COL12A1" EXACT [MONDO:design_pattern] synonym: "Bethlem Myopathy type 2" EXACT [MONDORULE:1, OMIM:616471] synonym: "BTHLM2" RELATED [MONDO:Lexical, OMIM:616471] +synonym: "COL12A1 Bethlem myopathy" EXACT [MONDO:design_pattern] synonym: "EDS, myopathic type" RELATED [OMIM:616471] synonym: "Ehlers-Danlos syndrome, myopathic type" RELATED [OMIM:616471] xref: OMIM:616471 {source="MONDO:equivalentTo"} @@ -285341,10 +290157,12 @@ id: MONDO:0014656 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2 def: "Any progressive external ophthalmoplegia with mitochondrial DNA deletions in which the cause of the disease is a mutation in the RNASEH1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "PEOB2" RELATED [MONDO:Lexical, OMIM:616479] +synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions caused by mutation in RNASEH1" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2" EXACT [MONDO:Lexical, OMIM:616479] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 2; PEOB2" RELATED [OMIM:616479] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 2" EXACT [MONDORULE:1, OMIM:616479] synonym: "progressive external ophthalmoplegia, autosomal recessive 2" RELATED [OMIM:616479] +synonym: "RNASEH1 progressive external ophthalmoplegia with mitochondrial DNA deletions" EXACT [MONDO:design_pattern] xref: OMIM:616479 {source="MONDO:equivalentTo"} xref: Orphanet:329336 {source="OMIM:616479", source="MONDO:subClassOf"} xref: UMLS:C4225312 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -285365,7 +290183,9 @@ synonym: "ciliary dyskinesia, primary, 32, without situs inversus" RELATED [OMIM synonym: "ciliary dyskinesia, primary, 32; CILD32" RELATED [OMIM:616481] synonym: "ciliary dyskinesia, primary, type 32" EXACT [MONDORULE:2, OMIM:616481] synonym: "primary ciliary dyskinesia 32 without situs inversus" EXACT [DOID:0110603] +synonym: "primary ciliary dyskinesia caused by mutation in RSPH3" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 32" EXACT [DOID:0110603, MONDORULE:2] +synonym: "RSPH3 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] xref: DOID:0110603 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110603"} xref: OMIM:616481 {source="DOID:0110603", source="MONDO:equivalentTo"} @@ -285397,7 +290217,7 @@ xref: SCTID:699870002 {source="DOID:0111158", source="MONDO:kboom-pr-0.75/0.37/0 xref: UMLS:C2674173 {source="NCBI:mim2gene_medline", source="DOID:0111158", source="Orphanet:85165", source="ORDO:85165/e"} xref: url:https\://ghr.nlm.nih.gov/condition/saddan {source="DOID:0111158"} xref: url:https\://www.ncbi.nlm.nih.gov/pubmed/10053006 {source="DOID:0111158"} -is_a: MONDO:0000426 {source="DOID:0111158", source="linkedlife"} ! autosomal dominant disease +is_a: MONDO:0000426 {source="DOID:0111158", source="linkedlifedata"} ! autosomal dominant disease is_a: MONDO:0018232 {source="Orphanet:85165"} ! primary bone dysplasia with micromelia is_a: MONDO:0019274 {source="Orphanet:85165"} ! other epidermal disorder is_a: MONDO:0019275 {source="Orphanet:85165"} ! other genetic epidermal disease @@ -285411,9 +290231,11 @@ name: fever-associated acute infantile liver failure syndrome def: "Any infantile liver failure in which the cause of the disease is a mutation in the NBAS gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:464724"} synonym: "ILFS2" RELATED [MONDO:Lexical, OMIM:616483] +synonym: "infantile liver failure caused by mutation in NBAS" EXACT [MONDO:design_pattern] synonym: "infantile liver failure syndrome 2" RELATED [MONDO:Lexical, OMIM:616483] synonym: "infantile liver failure syndrome 2; ILFS2" RELATED [OMIM:616483] synonym: "infantile liver failure syndrome type 2" EXACT [MONDORULE:1, OMIM:616483] +synonym: "NBAS infantile liver failure" EXACT [MONDO:design_pattern] xref: GARD:0013113 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:616483 {source="Orphanet:464724", source="MONDO:equivalentTo", source="ORDO:464724/e"} xref: Orphanet:464724 {source="MONDO:equivalentTo"} @@ -285491,7 +290313,9 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th synonym: "JBTS23" EXACT [DOID:0110992, MONDO:Lexical, OMIM:616490] synonym: "Joubert syndrome 23" EXACT [MONDO:Lexical, OMIM:616490] synonym: "Joubert syndrome 23; JBTS23" RELATED [OMIM:616490] +synonym: "Joubert syndrome caused by mutation in KIAA0586" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 23" EXACT [DOID:0110992, MONDORULE:2, OMIM:616490] +synonym: "KIAA0586 Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110992 {source="MONDO:equivalentTo"} xref: OMIM:616490 {source="DOID:0110992", source="MONDO:equivalentTo"} xref: Orphanet:475 {source="OMIM:616490", source="MONDO:subClassOf"} @@ -285509,6 +290333,7 @@ subset: ordo_disease {source="Orphanet:447964"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2V" EXACT [DOID:0110178] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation" EXACT [Orphanet:447964] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2V" EXACT [DOID:0110178] +synonym: "Charcot-Marie-tooth disease caused by mutation in NAGLU" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2V" RELATED [OMIM:616491] synonym: "Charcot-Marie-Tooth disease, axonal, type 2V" RELATED [MONDO:Lexical, OMIM:616491] synonym: "Charcot-Marie-Tooth disease, axonal, type 2V; CMT2V" RELATED [OMIM:616491] @@ -285516,12 +290341,13 @@ synonym: "Charcot-Marie-Tooth neuropathy type 2V" EXACT [DOID:0110178] synonym: "Charcot-Marie-Tooth neuropathy, type 2V" RELATED [OMIM:616491] synonym: "CMT2V" EXACT [DOID:0110178, MONDO:Lexical, OMIM:616491, Orphanet:447964] synonym: "hereditary adult-onset painful axonal polyneuropathy" EXACT [Orphanet:447964] +synonym: "NAGLU Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] xref: DOID:0110178 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="Orphanet:447964", source="ORDO:447964/attributed", source="ORDO:447964/ntbt"} xref: OMIM:616491 {source="Orphanet:447964", source="DOID:0110178", source="ORDO:447964/e", source="MONDO:equivalentTo"} xref: Orphanet:447964 {source="DOID:0110178", source="MONDO:equivalentTo"} xref: UMLS:C4225306 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:616491", source="Orphanet:447964/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110178/inferred", source="MONDO:Redundant", source="OMIM:616491", source="Orphanet:447964/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110178", source="Orphanet:447964"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7632 ! NAGLU @@ -285534,15 +290360,17 @@ name: hypomyelinating leukodystrophy 11 def: "Any leukodystrophy in which the cause of the disease is a mutation in the POLR1C gene." [MONDO:patterns/disease_series_by_gene] synonym: "HLD11" EXACT [DOID:0060792, MONDO:Lexical, OMIM:616494] synonym: "hypomyelinating leukodystrophy type 11" EXACT [DOID:0060792, MONDORULE:2] +synonym: "leukodystrophy caused by mutation in POLR1C" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 11" RELATED [MONDO:Lexical, OMIM:616494] synonym: "leukodystrophy, hypomyelinating, 11; HLD11" RELATED [OMIM:616494] synonym: "leukodystrophy, hypomyelinating, type 11" EXACT [MONDORULE:2, OMIM:616494] +synonym: "POLR1C leukodystrophy" EXACT [MONDO:design_pattern] xref: DOID:0060792 {source="MONDO:equivalentTo"} xref: ICD10:G11.1 {source="DOID:0060792"} xref: OMIM:616494 {source="DOID:0060792", source="MONDO:equivalentTo"} xref: Orphanet:88637 {source="OMIM:616494", source="MONDO:subClassOf"} xref: UMLS:C4225305 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019046 {source="DOID", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:616494"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID", source="DOID:0060792", source="DOID:0060792/inferred", source="MONDO:Entailed", source="MONDO:Redundant", source="OMIM:616494"} ! leukodystrophy is_a: MONDO:0019505 {source="ORDO:88637/btnt"} ! hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20194 ! POLR1C @@ -285557,6 +290385,8 @@ synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3; CEMCOX3" RELATED [OMIM:616500] synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 3" EXACT [MONDORULE:1, OMIM:616500] synonym: "CEMCOX3" RELATED [MONDO:Lexical, OMIM:616500] +synonym: "COA5 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern] +synonym: "fatal infantile encephalocardiomyopathy caused by mutation in COA5" EXACT [MONDO:design_pattern] xref: OMIM:616500 {source="MONDO:equivalentTo"} xref: Orphanet:1561 {source="OMIM:616500", source="MONDO:subClassOf"} xref: UMLS:C4225154 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -285574,6 +290404,8 @@ synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4; CEMCOX4" RELATED [OMIM:616501] synonym: "cardioencephalomyopathy, fatal infantile, due to cytochrome C oxidase deficiency type 4" EXACT [MONDORULE:1, OMIM:616501] synonym: "CEMCOX4" RELATED [MONDO:Lexical, OMIM:616501] +synonym: "COA6 fatal infantile encephalocardiomyopathy" EXACT [MONDO:design_pattern] +synonym: "fatal infantile encephalocardiomyopathy caused by mutation in COA6" EXACT [MONDO:design_pattern] xref: OMIM:616501 {source="MONDO:equivalentTo"} xref: Orphanet:1561 {source="OMIM:616501", source="MONDO:subClassOf"} xref: UMLS:C4225304 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -285589,8 +290421,10 @@ name: cone-rod dystrophy 21 def: "Any cone-rod dystrophy in which the cause of the disease is a mutation in the DRAM2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cone-rod dystrophy 21" EXACT [MONDO:Lexical, OMIM:616502] synonym: "cone-ROD dystrophy 21; CORD21" RELATED [OMIM:616502] +synonym: "cone-rod dystrophy caused by mutation in DRAM2" EXACT [MONDO:design_pattern] synonym: "cone-Rod dystrophy type 21" EXACT [MONDORULE:2, OMIM:616502] synonym: "CORD21" RELATED [MONDO:Lexical, OMIM:616502] +synonym: "DRAM2 cone-rod dystrophy" EXACT [MONDO:design_pattern] synonym: "retinal dystrophy with early macular involvement" RELATED [OMIM:616502] xref: OMIM:616502 {source="MONDO:equivalentTo"} xref: UMLS:C4049066 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -285604,9 +290438,12 @@ property_value: confidence "0.30809469528042244" xsd:double [Term] id: MONDO:0014670 name: lethal congenital contracture syndrome 9 +def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the ADGRG6 gene." [MONDO:design_pattern] +synonym: "ADGRG6 lethal congenital contracture syndrome" EXACT [MONDO:design_pattern] synonym: "LCCS9" RELATED [MONDO:Lexical, OMIM:616503] synonym: "lethal congenital contracture syndrome 9" EXACT [MONDO:Lexical, OMIM:616503] synonym: "lethal congenital contracture syndrome 9; LCCS9" RELATED [OMIM:616503] +synonym: "lethal congenital contracture syndrome caused by mutation in ADGRG6" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 9" EXACT [MONDORULE:1, OMIM:616503] xref: OMIM:616503 {source="MONDO:equivalentTo"} xref: UMLS:C4225303 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -285620,10 +290457,12 @@ id: MONDO:0014671 name: neuropathy, hereditary motor and sensory, type 6B def: "Any hereditary motor and sensory neuropathy type 6 in which the cause of the disease is a mutation in the SLC25A46 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Charcot-Marie-Tooth disease, type 6B" RELATED [OMIM:616505] +synonym: "hereditary motor and sensory neuropathy type 6 caused by mutation in SLC25A46" EXACT [MONDO:design_pattern] synonym: "HMSN 6B" RELATED [OMIM:616505] synonym: "HMSN6B" RELATED [MONDO:Lexical, OMIM:616505] synonym: "neuropathy, hereditary motor and sensory, type VIB" RELATED [MONDO:Lexical, OMIM:616505] synonym: "neuropathy, hereditary motor and sensory, type VIB; HMSN6B" RELATED [OMIM:616505] +synonym: "SLC25A46 hereditary motor and sensory neuropathy type 6" EXACT [MONDO:design_pattern] xref: OMIM:616505 {source="MONDO:equivalentTo"} xref: Orphanet:90120 {source="OMIM:616505", source="MONDO:subClassOf"} xref: UMLS:C4225302 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -285639,10 +290478,12 @@ id: MONDO:0014672 name: osteogenesis imperfecta type 17 def: "Any osteogenesis imperfecta in which the cause of the disease is a mutation in the SPARC gene." [MONDO:patterns/disease_series_by_gene] synonym: "OI17" EXACT [DOID:0110338, MONDO:Lexical, OMIM:616507] +synonym: "osteogenesis imperfecta caused by mutation in SPARC" EXACT [MONDO:design_pattern] synonym: "osteogenesis imperfecta type XVII" EXACT [DOID:0110338] synonym: "osteogenesis imperfecta, type 17" RELATED [OMIM:616507] synonym: "osteogenesis imperfecta, type XVII" RELATED [MONDO:Lexical, OMIM:616507] synonym: "osteogenesis imperfecta, type XVII; OI17" RELATED [OMIM:616507] +synonym: "SPARC osteogenesis imperfecta" EXACT [MONDO:design_pattern] xref: DOID:0110338 {source="MONDO:equivalentTo"} xref: ICD10:Q78.0 {source="DOID:0110338", source="MONDO:subClassOf"} xref: OMIM:616507 {source="DOID:0110338", source="MONDO:equivalentTo"} @@ -285661,6 +290502,8 @@ synonym: "cataract 44" EXACT [MONDO:Lexical, OMIM:616509] synonym: "cataract 44; CTRCT44" RELATED [OMIM:616509] synonym: "cataract type 44" EXACT [DOID:0110267, MONDORULE:2, OMIM:616509] synonym: "CTRCT44" EXACT [DOID:0110267, MONDO:Lexical, OMIM:616509] +synonym: "early-onset non-syndromic cataract caused by mutation in LSS" EXACT [MONDO:design_pattern] +synonym: "LSS early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] synonym: "total early-onset cataract" BROAD [DOID:0110267] xref: DOID:0110267 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110267"} @@ -285668,7 +290511,7 @@ xref: OMIM:616509 {source="DOID:0110267", source="MONDO:equivalentTo"} xref: Orphanet:91492 {source="OMIM:616509", source="MONDO:subClassOf"} xref: Orphanet:98994 {source="DOID:0110267", source="MONDO:directSiblingOf", source="OMIM:616509", source="MONDO:subClassOf"} xref: UMLS:C4225300 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:616509"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110267", source="MONDO:Redundant", source="OMIM:616509"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6708 ! LSS @@ -285696,11 +290539,13 @@ id: MONDO:0014675 name: autosomal recessive nonsyndromic deafness 104 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the RIPOR2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 104" EXACT [DOID:0110465] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in RIPOR2" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 104" EXACT [DOID:0110465, MONDORULE:2] synonym: "deafness, autosomal recessive 104" RELATED [MONDO:Lexical, OMIM:616515] synonym: "deafness, autosomal recessive 104; DFNB104" RELATED [OMIM:616515] synonym: "deafness, autosomal recessive type 104" EXACT [MONDORULE:2, OMIM:616515] synonym: "DFNB104" EXACT [DOID:0110465, MONDO:Lexical, OMIM:616515] +synonym: "RIPOR2 autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110465 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110465"} xref: OMIM:616515 {source="DOID:0110465", source="MONDO:equivalentTo"} @@ -285714,9 +290559,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13 id: MONDO:0014676 name: Emery-Dreifuss muscular dystrophy 3, autosomal recessive def: "Any autosomal recessive Emery-Dreifuss muscular dystrophy in which the cause of the disease is a mutation in the LMNA gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive Emery-Dreifuss muscular dystrophy caused by mutation in LMNA" EXACT [MONDO:design_pattern] synonym: "EDMD3" RELATED [MONDO:Lexical, OMIM:616516] synonym: "Emery-Dreifuss muscular dystrophy 3, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616516] synonym: "EMERY-Dreifuss muscular dystrophy 3, autosomal recessive; EDMD3" RELATED [OMIM:616516] +synonym: "LMNA autosomal recessive Emery-Dreifuss muscular dystrophy" EXACT [MONDO:design_pattern] xref: MESH:C567633 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:616516 {source="MONDO:equivalentTo"} xref: Orphanet:261 {source="OMIM:616516", source="MONDO:subClassOf"} @@ -285737,7 +290584,9 @@ def: "Any achromatopsia in which the cause of the disease is a mutation in the A synonym: "ACHM7" EXACT [DOID:0110009, MONDO:Lexical, OMIM:616517] synonym: "achromatopsia 7" EXACT [MONDO:Lexical, OMIM:616517] synonym: "achromatopsia 7; ACHM7" RELATED [OMIM:616517] +synonym: "achromatopsia caused by mutation in ATF6" EXACT [MONDO:design_pattern] synonym: "achromatopsia type 7" EXACT [DOID:0110009, MONDORULE:1, OMIM:616517] +synonym: "ATF6 achromatopsia" EXACT [MONDO:design_pattern] xref: DOID:0110009 {source="MONDO:equivalentTo"} xref: OMIM:616517 {source="DOID:0110009", source="MONDO:equivalentTo"} xref: Orphanet:49382 {source="OMIM:616517", source="MONDO:subClassOf"} @@ -285753,12 +290602,14 @@ name: intellectual disability, autosomal dominant 39 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the MYT1L gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 39" EXACT [DOID:0070069] synonym: "autosomal dominant non-syndromic intellectual disability 39" RELATED [DOID:0070069] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in MYT1L" EXACT [MONDO:design_pattern] synonym: "chromosome 2P25.3 deletion syndrome" RELATED [OMIM:616521] synonym: "chromosome 2P25.3 Duplication syndrome" RELATED [OMIM:616521] synonym: "mental retardation, autosomal dominant 39" RELATED [MONDO:Lexical, OMIM:616521] synonym: "mental retardation, autosomal dominant 39; MRD39" RELATED [OMIM:616521] synonym: "mental retardation, autosomal dominant type 39" EXACT [MONDORULE:2, OMIM:616521] synonym: "MRD39" EXACT [DOID:0070069, MONDO:Lexical, OMIM:616521] +synonym: "MYT1L autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] xref: DOID:0070069 {source="MONDO:equivalentTo"} xref: OMIM:616521 {source="DOID:0070069", source="MONDO:equivalentTo"} xref: Orphanet:178469 {source="MONDO:subClassOf", source="OMIM:616521"} @@ -285791,10 +290642,12 @@ def: "Any herpes simplex encephalitis in which the cause of the disease is a mut synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 7" RELATED [OMIM:616532] synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 7; IIAE7" RELATED [OMIM:616532] synonym: "encephalopathy, acute, infection-induced, susceptibility to, 7" RELATED [OMIM:616532] +synonym: "herpes simplex encephalitis caused by mutation in IRF3" EXACT [MONDO:design_pattern] synonym: "Herpes simplex encephalitis, susceptibility to, 5" RELATED [OMIM:616532] synonym: "herpes simplex encephalitis, susceptibility to, 7" EXACT [OMIM:616532] synonym: "Herpes simplex encephalitis, susceptibility to, type 7" EXACT [MONDORULE:1, OMIM:616532] synonym: "IIAE7" RELATED [OMIM:616532] +synonym: "IRF3 herpes simplex encephalitis" EXACT [MONDO:design_pattern] xref: OMIM:616532 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="MONDO:subClassOf", source="OMIM:616532"} xref: UMLS:C4225294 {source="NCBI:mim2gene_medline"} @@ -285809,7 +290662,9 @@ property_value: confidence "0.9297058823529412" xsd:double id: MONDO:0014681 name: thyroid cancer, nonmedullary, 4 def: "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the FOXE1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FOXE1 thyroid cancer, nonmedullary" EXACT [MONDO:design_pattern] synonym: "NMTC4" RELATED [MONDO:Lexical, OMIM:616534] +synonym: "thyroid cancer, nonmedullary caused by mutation in FOXE1" EXACT [MONDO:design_pattern] synonym: "thyroid cancer, nonmedullary, 4" EXACT [MONDO:Lexical, OMIM:616534] synonym: "thyroid cancer, nonmedullary, 4; NMTC4" RELATED [OMIM:616534] synonym: "Thyroid cancer, nonmedullary, type 4" EXACT [MONDORULE:1, OMIM:616534] @@ -285828,7 +290683,9 @@ property_value: confidence "1.198067632850242" xsd:double id: MONDO:0014682 name: thyroid cancer, nonmedullary, 5 def: "Any thyroid cancer, nonmedullary in which the cause of the disease is a mutation in the HABP2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HABP2 thyroid cancer, nonmedullary" EXACT [MONDO:design_pattern] synonym: "NMTC5" RELATED [MONDO:Lexical, OMIM:616535] +synonym: "thyroid cancer, nonmedullary caused by mutation in HABP2" EXACT [MONDO:design_pattern] synonym: "thyroid cancer, nonmedullary, 5" EXACT [MONDO:Lexical, OMIM:616535] synonym: "thyroid cancer, nonmedullary, 5; NMTC5" RELATED [OMIM:616535] synonym: "Thyroid cancer, nonmedullary, type 5" EXACT [MONDORULE:1, OMIM:616535] @@ -285866,14 +290723,16 @@ def: "Any combined oxidative phosphorylation deficiency in which the cause of th subset: ordo_disease {source="Orphanet:477684"} synonym: "combined oxidative phosphorylation deficiency 26" RELATED [MONDO:Lexical, OMIM:616539] synonym: "combined oxidative phosphorylation deficiency 26; COXPD26" RELATED [OMIM:616539] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in TRMT5" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 26" EXACT [MONDORULE:2, OMIM:616539] synonym: "COXPD26" EXACT [MONDO:Lexical, OMIM:616539, Orphanet:477684] +synonym: "TRMT5 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: EFO:0009036 {source="MONDO:equivalentTo"} xref: OMIM:616539 {source="Orphanet:477684", source="MONDO:equivalentTo"} xref: Orphanet:477684 {source="MONDO:equivalentTo"} xref: UMLS:C4225290 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:616539", source="OMIM:616539"} ! combined oxidative phosphorylation deficiency -is_a: MONDO:0018157 {source="Orphanet:477684"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis +is_a: MONDO:0018157 {source="EFO:0009036", source="Orphanet:477684"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23141 ! TRMT5 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23141 {source="mim2gene_medgen"} ! TRMT5 @@ -285888,7 +290747,9 @@ synonym: "epilepsy, progressive myoclonic, 9" RELATED [MONDO:Lexical, OMIM:61654 synonym: "epilepsy, progressive myoclonic, 9; EPM9" RELATED [OMIM:616540] synonym: "epilepsy, progressive myoclonic, type 9" EXACT [MONDORULE:1, OMIM:616540] synonym: "EPM9" EXACT [MONDO:Lexical, OMIM:616540, Orphanet:457265] +synonym: "LMNB2 progressive myoclonic epilepsy" EXACT [MONDO:design_pattern] synonym: "PME type 9" EXACT [Orphanet:457265] +synonym: "progressive myoclonic epilepsy caused by mutation in LMNB2" EXACT [MONDO:design_pattern] synonym: "progressive myoclonic epilepsy due to LMNB2 deficiency" EXACT [Orphanet:457265] synonym: "progressive myoclonus epilepsy type 9" EXACT [Orphanet:457265] xref: ICD10:G40.3 {source="ORDO:457265/ntbt", source="Orphanet:457265", source="ORDO:457265/attributed"} @@ -285917,8 +290778,10 @@ property_value: confidence "0.33333333333333326" xsd:double id: MONDO:0014687 name: retinitis pigmentosa 73 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the HGSNAT gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HGSNAT retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 73" EXACT [MONDO:Lexical, OMIM:616544] synonym: "retinitis pigmentosa 73; RP73" RELATED [OMIM:616544] +synonym: "retinitis pigmentosa caused by mutation in HGSNAT" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 73" EXACT [DOID:0110389, MONDORULE:2, OMIM:616544] synonym: "RP73" EXACT [DOID:0110389, MONDO:Lexical, OMIM:616544] xref: DOID:0110389 {source="MONDO:equivalentTo"} @@ -285951,10 +290814,10 @@ id: MONDO:0014689 name: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome subset: ordo_malformation_syndrome {source="Orphanet:447974"} synonym: "KFS4" RELATED [MONDO:Lexical, OMIM:616549] -synonym: "Klippel-FEIL syndrome 4, autosomal recessive, with MYOPATHY and facial DYSMORPHISM" RELATED [MONDO:Lexical, OMIM:616549] -synonym: "Klippel-FEIL syndrome 4, autosomal recessive, with MYOPATHY and facial DYSMORPHISM; KFS4" RELATED [OMIM:616549] +synonym: "Klippel-FEIL syndrome 4, autosomal recessive, with MYOPATHY and facial dysmorphism" RELATED [MONDO:Lexical, OMIM:616549] +synonym: "Klippel-FEIL syndrome 4, autosomal recessive, with MYOPATHY and facial dysmorphism; KFS4" RELATED [OMIM:616549] synonym: "Klippel-Feil syndrome 4, autosomal recessive, with nemaline Myopathy and Facial Dysmorphism" RELATED [OMIM:616549] -synonym: "Klippel-FEIL syndrome 4, autosomal recessive, with nemaline MYOPATHY and FACIAL DYSMORPHISM; KFS4" RELATED [OMIM:616549] +synonym: "Klippel-FEIL syndrome 4, autosomal recessive, with nemaline MYOPATHY and FACIAL dysmorphism; KFS4" RELATED [OMIM:616549] xref: ICD10:Q76.1 {source="Orphanet:447974", source="ORDO:447974/attributed", source="MONDO:subClassOf", source="ORDO:447974/ntbt"} xref: OMIM:616549 {source="Orphanet:447974", source="ORDO:447974/e", source="MONDO:equivalentTo"} xref: Orphanet:447974 {source="MONDO:equivalentTo"} @@ -285995,8 +290858,10 @@ name: Noonan syndrome 9 def: "Any Noonan syndrome in which the cause of the disease is a mutation in the SOS2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Noonan syndrome 9" EXACT [MONDO:Lexical, OMIM:616559] synonym: "Noonan syndrome 9; NS9" RELATED [OMIM:616559] +synonym: "Noonan syndrome caused by mutation in SOS2" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome type 9" EXACT [DOID:0060587, MONDORULE:1, OMIM:616559] synonym: "NS9" EXACT [DOID:0060587, MONDO:Lexical, OMIM:616559] +synonym: "SOS2 Noonan syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060587 {source="MONDO:equivalentTo"} xref: OMIM:616559 {source="DOID:0060587", source="MONDO:equivalentTo"} xref: Orphanet:648 {source="OMIM:616559", source="MONDO:subClassOf"} @@ -286011,8 +290876,10 @@ property_value: confidence "1.9999999999999991" xsd:double id: MONDO:0014692 name: retinitis pigmentosa 74 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the BBS2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BBS2 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 74" EXACT [MONDO:Lexical, OMIM:616562] synonym: "retinitis pigmentosa 74; RP74" RELATED [OMIM:616562] +synonym: "retinitis pigmentosa caused by mutation in BBS2" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 74" EXACT [DOID:0110401, MONDORULE:2, OMIM:616562] synonym: "RP74" EXACT [DOID:0110401, MONDO:Lexical, OMIM:616562] xref: DOID:0110401 {source="MONDO:equivalentTo"} @@ -286029,8 +290896,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/96 id: MONDO:0014693 name: Noonan syndrome 10 def: "Any Noonan syndrome in which the cause of the disease is a mutation in the LZTR1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "LZTR1 Noonan syndrome" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome 10" EXACT [MONDO:Lexical, OMIM:616564] synonym: "Noonan syndrome 10; NS10" RELATED [OMIM:616564] +synonym: "Noonan syndrome caused by mutation in LZTR1" EXACT [MONDO:design_pattern] synonym: "Noonan syndrome type 10" EXACT [DOID:0060588, MONDORULE:2, OMIM:616564] synonym: "NS10" EXACT [DOID:0060588, MONDO:Lexical, OMIM:616564] xref: DOID:0060588 {source="MONDO:equivalentTo"} @@ -286047,6 +290916,8 @@ property_value: confidence "1.9999999999999991" xsd:double id: MONDO:0014694 name: spondylocostal dysostosis 6, autosomal recessive def: "Any autosomal recessive spondylocostal dysostosis in which the cause of the disease is a mutation in the RIPPLY2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive spondylocostal dysostosis caused by mutation in RIPPLY2" EXACT [MONDO:design_pattern] +synonym: "RIPPLY2 autosomal recessive spondylocostal dysostosis" EXACT [MONDO:design_pattern] synonym: "SCDO6" RELATED [MONDO:Lexical, OMIM:616566] synonym: "spondylocostal dysostosis 6" RELATED [GARD:0012807] synonym: "spondylocostal dysostosis 6, autosomal recessive" EXACT [MONDO:Lexical, OMIM:616566] @@ -286070,6 +290941,8 @@ synonym: "glioma susceptibility 9" EXACT [MONDO:Lexical, OMIM:616568] synonym: "glioma susceptibility 9; GLM9" RELATED [OMIM:616568] synonym: "glioma susceptibility type 9" EXACT [MONDORULE:1, OMIM:616568] synonym: "GLM9" RELATED [MONDO:Lexical, OMIM:616568] +synonym: "malignant glioma caused by mutation in POT1" EXACT [MONDO:design_pattern] +synonym: "POT1 malignant glioma" EXACT [MONDO:design_pattern] xref: OMIM:616568 {source="MONDO:equivalentTo"} xref: Orphanet:251627 {source="OMIM:616568", source="MONDO:relatedTo", source="MONDO:superClassOf"} xref: Orphanet:251630 {source="OMIM:616568", source="MONDO:relatedTo", source="MONDO:superClassOf"} @@ -286099,10 +290972,12 @@ property_value: confidence "0.8452812500000009" xsd:double id: MONDO:0014697 name: immunodeficiency, common variable, 12 def: "Any common variable immunodeficiency in which the cause of the disease is a mutation in the NFKB1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "common variable immunodeficiency caused by mutation in NFKB1" EXACT [MONDO:design_pattern] synonym: "CVID12" RELATED [MONDO:Lexical, OMIM:616576] synonym: "immunodeficiency, common variable, 12" EXACT [MONDO:Lexical, OMIM:616576] synonym: "immunodeficiency, common variable, 12; CVID12" RELATED [OMIM:616576] synonym: "immunodeficiency, common variable, type 12" EXACT [MONDORULE:2, OMIM:616576] +synonym: "NFKB1 common variable immunodeficiency" EXACT [MONDO:design_pattern] synonym: "NFKB1 deficiency" RELATED [OMIM:616576] xref: OMIM:616576 {source="MONDO:equivalentTo"} xref: UMLS:C4225277 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -286134,6 +291009,8 @@ name: intellectual disability, autosomal dominant 40 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the CHAMP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 40" EXACT [DOID:0070070] synonym: "autosomal dominant non-syndromic intellectual disability 40" RELATED [DOID:0070070] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in CHAMP1" EXACT [MONDO:design_pattern] +synonym: "CHAMP1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 40" RELATED [MONDO:Lexical, OMIM:616579] synonym: "mental retardation, autosomal dominant 40; MRD40" RELATED [OMIM:616579] synonym: "mental retardation, autosomal dominant type 40" EXACT [MONDORULE:2, OMIM:616579] @@ -286191,7 +291068,9 @@ name: autosomal recessive complex spastic paraplegia type 9B def: "Any autosomal recessive complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene." [MONDO:patterns/disease_series_by_gene] comment: Editor note: the DO definition is hereditary spastic paraplegia that has_material_basis_in mutation in the ALDH18A1, but this does not differentiate from 9A. See https://github.com/Orphanet/ORDO/issues/8 subset: ordo_disease {source="Orphanet:447760"} +synonym: "ALDH18A1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "AR-SPG9B" EXACT [Orphanet:447760] +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in ALDH18A1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive complex spastic paraplegia type 9B" EXACT [DOID:0110825] synonym: "autosomal recessive spastic paraplegia 9B" EXACT [DOID:0110825] synonym: "hereditary spastic paraplegia 9B" RELATED [DOID:0110825] @@ -286206,7 +291085,7 @@ xref: Orphanet:447760 {source="DOID:0110825", source="MONDO:equivalentTo"} xref: UMLS:C4225272 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="MONDOLEX:0014702", source="Orphanet:447760"} ! autosomal recessive complex spastic paraplegia is_a: MONDO:0015983 {source="Orphanet:447760"} ! rare genetic syndromic intellectual disability -is_a: MONDO:0019064 {source="MONDO:0014702/inferred", source="MONDO:Redundant", source="MONDOLEX:0014702/inferred", source="OMIM:616586", source="Orphanet:447760/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110825", source="MONDO:0014702/inferred", source="MONDO:Redundant", source="MONDOLEX:0014702/inferred", source="OMIM:616586", source="Orphanet:447760/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9722 ! ALDH18A1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9722 {source="mim2gene_medgen"} ! ALDH18A1 @@ -286218,8 +291097,10 @@ name: Adams-Oliver syndrome 6 def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the DLL4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Adams-Oliver syndrome 6" EXACT [MONDO:Lexical, OMIM:616589] synonym: "Adams-Oliver syndrome 6; AOS6" RELATED [OMIM:616589] +synonym: "Adams-Oliver syndrome caused by mutation in DLL4" EXACT [MONDO:design_pattern] synonym: "Adams-Oliver syndrome type 6" EXACT [MONDORULE:1, OMIM:616589] synonym: "AOS6" RELATED [MONDO:Lexical, OMIM:616589] +synonym: "DLL4 Adams-Oliver syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616589 {source="MONDO:equivalentTo"} xref: UMLS:C4225271 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0007034 {source="OMIM:616589", source="ORDO:974/btnt"} ! Adams-Oliver syndrome @@ -286249,8 +291130,10 @@ name: craniosynostosis 6 def: "Any craniosynostosis in which the cause of the disease is a mutation in the ZIC1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "craniosynostosis 6" EXACT [MONDO:Lexical, OMIM:616602] synonym: "craniosynostosis 6; CRS6" RELATED [OMIM:616602] +synonym: "craniosynostosis caused by mutation in ZIC1" EXACT [MONDO:design_pattern] synonym: "craniosynostosis type 6" EXACT [MONDORULE:1, OMIM:616602] synonym: "CRS6" RELATED [MONDO:Lexical, OMIM:616602] +synonym: "ZIC1 craniosynostosis" EXACT [MONDO:design_pattern] xref: OMIM:616602 {source="MONDO:equivalentTo"} xref: UMLS:C4225269 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015469 {source="MONDO:Redundant", source="MONDO:cjm", source="OMIM:616602"} ! craniosynostosis @@ -286275,8 +291158,8 @@ xref: DOID:0070131 {source="MONDO:equivalentTo"} xref: ICD10:Q82.8 {source="DOID:0070131"} xref: OMIM:616603 {source="DOID:0070131", source="MONDO:equivalentTo"} xref: UMLS:C4225268 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0016175 {source="MONDO:Redundant", source="OMIM:616603"} ! cutis laxa -is_a: MONDO:0019571 {source="MONDOLEX:0014706", source="ORDO:90348/btnt"} ! autosomal dominant cutis laxa +is_a: MONDO:0016175 {source="DOID:0070131/inferred", source="MONDO:Redundant", source="OMIM:616603"} ! cutis laxa +is_a: MONDO:0019571 {source="DOID:0070131", source="MONDOLEX:0014706", source="ORDO:90348/btnt"} ! autosomal dominant cutis laxa intersection_of: MONDO:0016175 ! cutis laxa intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9722 ! ALDH18A1 intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance @@ -286363,6 +291246,7 @@ def: "Any Charcot-Marie-tooth disease type 2 in which the cause of the disease i subset: ordo_disease synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2W" EXACT [DOID:0110162] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to HARS mutation" EXACT [Orphanet:488333] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in HARS" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal type 2W" RELATED [DOID:0110162] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2W" RELATED [OMIM:616625] synonym: "Charcot-Marie-Tooth disease, axonal, type 2w" EXACT [OMIM:616625] @@ -286370,11 +291254,12 @@ synonym: "Charcot-Marie-Tooth disease, axonal, type 2W; CMT2W" RELATED [OMIM:616 synonym: "Charcot-Marie-Tooth neuropathy type 2W" EXACT [DOID:0110162] synonym: "Charcot-Marie-Tooth neuropathy, type 2W" RELATED [OMIM:616625] synonym: "CMT2W" EXACT [DOID:0110162, OMIM:616625, Orphanet:488333] +synonym: "HARS Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110162 {source="MONDO:equivalentTo"} xref: OMIM:616625 {source="Orphanet:488333", source="MONDO:equivalentTo", source="DOID:0110162"} xref: Orphanet:488333 {source="MONDO:equivalentTo"} xref: UMLS:C4225265 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:616625", source="Orphanet:488333/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110162/inferred", source="MONDO:Redundant", source="OMIM:616625", source="Orphanet:488333/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110162", source="MONDO:Entailed", source="Orphanet:488333"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4816 ! HARS @@ -286385,8 +291270,10 @@ id: MONDO:0014712 name: Senior-Loken syndrome 9; SLSN9 def: "Any Senior-Loken syndrome in which the cause of the disease is a mutation in the TRAF3IP1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Senior-Loken syndrome 9" EXACT [OMIM:616629] +synonym: "Senior-Loken syndrome caused by mutation in TRAF3IP1" EXACT [MONDO:design_pattern] synonym: "Senior-Loken syndrome type 9" EXACT [MONDORULE:1, OMIM:616629] synonym: "SLSN9" EXACT [OMIM:616629] +synonym: "TRAF3IP1 Senior-Loken syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616629 {source="MONDO:equivalentTo"} xref: UMLS:C4225263 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017842 {source="DC-OMIM:616629", source="OMIM:616629"} ! Senior-Loken syndrome @@ -286458,7 +291345,7 @@ xref: EFO:0009050 {source="MONDO:equivalentTo"} xref: OMIM:616638 {source="ORDO:457485/e", source="Orphanet:457485", source="MONDO:equivalentTo"} xref: Orphanet:457485 {source="MONDO:equivalentTo"} xref: UMLS:C4225259 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015159 {source="Orphanet:457485"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability +is_a: MONDO:0015159 {source="EFO:0009050", source="Orphanet:457485"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:457485"} ! rare syndromic intellectual disability is_a: MONDO:0015983 {source="Orphanet:457485"} ! rare genetic syndromic intellectual disability relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3942 {source="mim2gene_medgen"} ! MTOR @@ -286486,9 +291373,11 @@ property_value: confidence "2.692307692307692" xsd:double id: MONDO:0014718 name: epileptic encephalopathy, early infantile, 34; EIEE34 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC12A5 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in SLC12A5" EXACT [MONDO:design_pattern] synonym: "EIEE34" EXACT [OMIM:616645] synonym: "epileptic encephalopathy, early infantile, 34" EXACT [OMIM:616645] synonym: "epileptic encephalopathy, early infantile, type 34" EXACT [MONDORULE:2, OMIM:616645] +synonym: "SLC12A5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:616645 {source="MONDO:equivalentTo"} xref: UMLS:C4225257 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:616645", source="OMIM:616645"} ! early infantile epileptic encephalopathy @@ -286540,7 +291429,7 @@ xref: SCTID:715374003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C1832466 {source="ORDO:1215/e", source="Orphanet:1215"} xref: UMLS:C1852267 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:C4275164 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0003608 {source="MONDO:Redundant", source="OMIM:616648", source="linkedlife/inferred"} ! optic atrophy +is_a: MONDO:0003608 {source="MONDO:Redundant", source="OMIM:616648", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic atrophy is_a: MONDO:0015360 {source="Orphanet:1215"} ! autosomal dominant hereditary axonal motor and sensory neuropathy is_a: MONDO:0016797 {source="Orphanet:1215"} ! multiple mitochondrial DNA deletion syndrome is_a: MONDO:0020250 {source="Orphanet:1215", source="linkedlifedata"} ! autosomal dominant optic atrophy @@ -286603,7 +291492,9 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th synonym: "JBTS24" EXACT [DOID:0110993, OMIM:616654] synonym: "Joubert syndrome 24" EXACT [OMIM:616654] synonym: "Joubert syndrome 24; JBTS24" RELATED [OMIM:616654] +synonym: "Joubert syndrome caused by mutation in TCTN2" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 24" EXACT [DOID:0110993, MONDORULE:2, OMIM:616654] +synonym: "TCTN2 Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110993 {source="MONDO:equivalentTo"} xref: OMIM:616654 {source="DOID:0110993", source="MONDO:equivalentTo"} xref: UMLS:C4084841 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -286640,18 +291531,20 @@ synonym: "autosomal recessive axonal Charcot-Marie-Tooth disease type 2X" EXACT synonym: "autosomal recessive Charcot Marie Tooth disease type 2X" RELATED [Orphanet:466775] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2 due to SPG11 mutation" EXACT [Orphanet:466775] synonym: "autosomal recessive Charcot-Marie-Tooth disease type 2X" RELATED [Orphanet:466775] +synonym: "Charcot-Marie-tooth disease caused by mutation in SPG11" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2X" RELATED [OMIM:616668] synonym: "Charcot-Marie-Tooth disease, axonal, type 2x" EXACT [OMIM:616668] synonym: "Charcot-Marie-Tooth disease, axonal, type 2X; CMT2X" RELATED [OMIM:616668] synonym: "Charcot-Marie-Tooth neuropathy type 2X" EXACT [DOID:0110176] synonym: "Charcot-Marie-Tooth neuropathy, type 2X" RELATED [OMIM:616668] synonym: "CMT2X" EXACT [OMIM:616668, Orphanet:466775] +synonym: "SPG11 Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] xref: DOID:0110176 {source="MONDO:equivalentTo"} xref: EFO:1001983 {source="MONDO:equivalentTo"} xref: OMIM:616668 {source="DOID:0110176", source="Orphanet:466775", source="MONDO:equivalentTo"} xref: Orphanet:466775 {source="DOID:0110176", source="MONDO:equivalentTo"} xref: UMLS:C4225253 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="EFO:1001983/inferred", source="MONDO:Redundant", source="OMIM:616668", source="Orphanet:466775/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110176/inferred", source="EFO:1001983/inferred", source="MONDO:Redundant", source="OMIM:616668", source="Orphanet:466775/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110176", source="EFO:1001983"} ! Charcot-Marie-tooth disease type 2 is_a: MONDO:0019601 {source="MONDOLEX:0014726", source="Orphanet:466775"} ! autosomal recessive axonal hereditary motor and sensory neuropathy intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease @@ -286676,8 +291569,10 @@ id: MONDO:0014728 name: combined oxidative phosphorylation defect type 27 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the CARS2 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:477774"} +synonym: "CARS2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency 27" EXACT [OMIM:616672] synonym: "combined oxidative phosphorylation deficiency 27; COXPD27" RELATED [OMIM:616672] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in CARS2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 27" EXACT [MONDORULE:2, OMIM:616672] synonym: "COXPD27" EXACT [OMIM:616672, Orphanet:477774] xref: EFO:0009037 {source="MONDO:equivalentTo"} @@ -286686,7 +291581,7 @@ xref: Orphanet:477774 {source="MONDO:equivalentTo"} xref: UMLS:C4225251 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:616672", source="OMIM:616672"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0015919 {source="Orphanet:477774"} ! syndromic neurometabolic disease with non-X-linked intellectual disability -is_a: MONDO:0018157 {source="Orphanet:477774"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis +is_a: MONDO:0018157 {source="EFO:0009037", source="Orphanet:477774"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis is_a: MONDO:0019058 {source="Orphanet:477774"} ! neurometabolic disease intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25695 ! CARS2 @@ -286700,7 +291595,9 @@ def: "Any hereditary spastic paraplegia in which the cause of the disease is a m subset: ordo_disease {source="Orphanet:459056"} synonym: "autosomal recessive spastic paraplegia 75" EXACT [DOID:0110820] synonym: "autosomal recessive spastic paraplegia type 75" EXACT [DOID:0110820] +synonym: "hereditary spastic paraplegia caused by mutation in MAG" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 75" EXACT [DOID:0110820, MONDORULE:2] +synonym: "MAG hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 75, autosomal recessive" EXACT [OMIM:616680] synonym: "spastic paraplegia 75, autosomal recessive; SPG75" RELATED [OMIM:616680] synonym: "SPG75" EXACT [DOID:0110820, OMIM:616680, Orphanet:459056] @@ -286711,7 +291608,7 @@ xref: OMIM:616680 {source="ORDO:459056/e", source="DOID:0110820", source="Orphan xref: Orphanet:459056 {source="DOID:0110820", source="MONDO:equivalentTo"} xref: UMLS:C4225250 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:459056"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="MONDO:Redundant", source="OMIM:616680", source="Orphanet:459056/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DOID:0110820", source="EFO:0009018/inferred", source="MONDO:Redundant", source="OMIM:616680", source="Orphanet:459056/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0019064 ! hereditary spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6783 ! MAG relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/6783 {source="mim2gene_medgen"} ! MAG @@ -286754,9 +291651,11 @@ def: "Any leukodystrophy in which the cause of the disease is a mutation in the subset: ordo_disease {source="Orphanet:466934"} synonym: "HLD12" EXACT [DOID:0060796, OMIM:616683] synonym: "hypomyelinating leukodystrophy type 12" EXACT [DOID:0060796, MONDORULE:2] +synonym: "leukodystrophy caused by mutation in VPS11" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 12" EXACT [OMIM:616683] synonym: "leukodystrophy, hypomyelinating, 12; HLD12" RELATED [OMIM:616683] synonym: "leukodystrophy, hypomyelinating, type 12" EXACT [MONDORULE:2, OMIM:616683] +synonym: "VPS11 leukodystrophy" EXACT [MONDO:design_pattern] synonym: "VPS11-related autosomal recessive hypomyelinating leukodystrophy" RELATED [Orphanet:466934] synonym: "VPS11-related autosomal recessive hypomyelinating leukoencephalopathy" EXACT [Orphanet:466934] xref: DOID:0060796 {source="MONDO:equivalentTo"} @@ -286764,7 +291663,7 @@ xref: OMIM:616683 {source="Orphanet:466934", source="DOID:0060796", source="MOND xref: Orphanet:466934 {source="MONDO:equivalentTo"} xref: UMLS:C4225247 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015983 {source="Orphanet:466934"} ! rare genetic syndromic intellectual disability -is_a: MONDO:0019046 {source="DOID:0060796", source="MONDO:Entailed", source="OMIM:616683", source="Orphanet:466934"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0060796", source="DOID:0060796/inferred", source="MONDO:Entailed", source="OMIM:616683", source="Orphanet:466934"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14583 ! VPS11 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14583 {source="mim2gene_medgen"} ! VPS11 @@ -286777,12 +291676,14 @@ def: "SURF1-related Charcot-Marie-Tooth disease type 4 (CMT4K) is a subtype of C subset: ordo_disease {source="Orphanet:391351"} synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth disease type 4K" EXACT [DOID:0110187] synonym: "autosomal recessive demyelinating Charcot-Marie-Tooth neuropathy type 4K" EXACT [DOID:0110187] +synonym: "Charcot-Marie-tooth disease type 4 caused by mutation in SURF1" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease type 4K" EXACT [Orphanet:391351] synonym: "Charcot-Marie-Tooth disease, demyelinating, autosomal recessive, type 4K" RELATED [OMIM:616684] synonym: "Charcot-Marie-Tooth disease, type 4k" EXACT [OMIM:616684] synonym: "Charcot-Marie-Tooth disease, type 4K; CMT4K" RELATED [OMIM:616684] synonym: "Charcot-Marie-Tooth neuropathy, demyelinating, autosomal recessive, type 4K" RELATED [OMIM:616684] synonym: "CMT4K" EXACT [DOID:0110187, OMIM:616684, Orphanet:391351] +synonym: "SURF1 Charcot-Marie-tooth disease type 4" EXACT [MONDO:design_pattern] synonym: "SURF1-related Charcot-Marie-Tooth disease type 4" EXACT [DOID:0110187] synonym: "SURF1-related CMT4" EXACT [DOID:0110187, Orphanet:391351] synonym: "SURF1-related severe demyelinating Charcot-Marie-Tooth disease" EXACT [DOID:0110187, Orphanet:391351] @@ -286791,7 +291692,7 @@ xref: ICD10:G60.0 {source="ORDO:391351/ntbt", source="DOID:0110187", source="Orp xref: OMIM:616684 {source="ORDO:391351/e", source="DOID:0110187", source="Orphanet:391351", source="MONDO:equivalentTo"} xref: Orphanet:391351 {source="DOID:0110187", source="MONDO:equivalentTo"} xref: UMLS:C4225246 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:616684", source="Orphanet:391351/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110187/inferred", source="MONDO:Redundant", source="OMIM:616684", source="Orphanet:391351/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0016578 {source="Orphanet:391351"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies is_a: MONDO:0018995 {source="DOID:0110187", source="Orphanet:391351"} ! Charcot-Marie-tooth disease type 4 intersection_of: MONDO:0018995 ! Charcot-Marie-tooth disease type 4 @@ -286821,6 +291722,7 @@ subset: ordo_disease {source="Orphanet:435387"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth type 2Y" EXACT [DOID:0110168] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation" EXACT [DOID:0110168] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Y" RELATED [Orphanet:435387] +synonym: "Charcot-Marie-tooth disease type 2 caused by mutation in VCP" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Y" RELATED [OMIM:616687] synonym: "Charcot-Marie-Tooth disease, axonal, type 2y" EXACT [OMIM:616687] synonym: "Charcot-Marie-Tooth disease, axonal, type 2Y; CMT2Y" RELATED [OMIM:616687] @@ -286828,12 +291730,13 @@ synonym: "Charcot-Marie-Tooth neuropathy type 2Y" EXACT [DOID:0110168] synonym: "Charcot-Marie-Tooth neuropathy, type 2Y" RELATED [OMIM:616687] synonym: "CMT2 due to VCP mutation" EXACT [DOID:0110168, Orphanet:435387] synonym: "CMT2Y" EXACT [DOID:0110168, OMIM:616687] +synonym: "VCP Charcot-Marie-tooth disease type 2" EXACT [MONDO:design_pattern] xref: DOID:0110168 {source="MONDO:equivalentTo"} xref: ICD10:G60.0 {source="ORDO:435387/attributed", source="DOID:0110168", source="Orphanet:435387", source="ORDO:435387/ntbt"} xref: OMIM:616687 {source="DOID:0110168", source="ORDO:435387/e", source="MONDO:equivalentTo", source="Orphanet:435387"} xref: Orphanet:435387 {source="DOID:0110168", source="MONDO:equivalentTo"} xref: UMLS:C4225244 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:616687", source="Orphanet:435387/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110168/inferred", source="MONDO:Redundant", source="OMIM:616687", source="Orphanet:435387/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110168", source="MONDO:Entailed", source="Orphanet:435387"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0018993 ! Charcot-Marie-tooth disease type 2 intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12666 ! VCP @@ -286848,17 +291751,19 @@ subset: ordo_disease {source="Orphanet:466768"} synonym: "autosomal dominant axonal Charcot-Marie-Tooth disease type 2Z" EXACT [DOID:0110181] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2 due to MORC2 mutation" EXACT [Orphanet:466768] synonym: "autosomal dominant Charcot-Marie-Tooth disease type 2Z" RELATED [Orphanet:466768] +synonym: "Charcot-Marie-tooth disease caused by mutation in MORC2" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, autosomal dominant, type 2Z" RELATED [OMIM:616688] synonym: "Charcot-Marie-Tooth disease, axonal, type 2z" EXACT [OMIM:616688] synonym: "Charcot-Marie-Tooth disease, axonal, type 2Z; CMT2Z" RELATED [OMIM:616688] synonym: "Charcot-Marie-Tooth neuropathy type 2Z" EXACT [DOID:0110181] synonym: "Charcot-Marie-Tooth neuropathy, type 2Z" RELATED [OMIM:616688] synonym: "CMT2Z" EXACT [DOID:0110181, OMIM:616688, Orphanet:466768] +synonym: "MORC2 Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] xref: DOID:0110181 {source="MONDO:equivalentTo"} xref: OMIM:616688 {source="Orphanet:466768", source="DOID:0110181", source="MONDO:equivalentTo"} xref: Orphanet:466768 {source="DOID:0110181", source="MONDO:equivalentTo"} xref: UMLS:C4225243 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:616688", source="Orphanet:466768/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110181/inferred", source="MONDO:Redundant", source="OMIM:616688", source="Orphanet:466768/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110181", source="Orphanet:466768"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23573 ! MORC2 @@ -286870,9 +291775,11 @@ id: MONDO:0014737 name: dehydrated hereditary stomatocytosis 2; DHS2 def: "Any dehydrated hereditary stomatocytosis in which the cause of the disease is a mutation in the KCNN4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Dehydrated hereditary stomatocytosis 2" EXACT [OMIM:616689] +synonym: "dehydrated hereditary stomatocytosis caused by mutation in KCNN4" EXACT [MONDO:design_pattern] synonym: "Dehydrated hereditary stomatocytosis type 2" EXACT [MONDORULE:1, OMIM:616689] synonym: "Desiccytosis Gardos" RELATED [OMIM:616689] synonym: "DHS2" RELATED [OMIM:616689] +synonym: "KCNN4 dehydrated hereditary stomatocytosis" EXACT [MONDO:design_pattern] synonym: "xerocytosis Gardos" RELATED [OMIM:616689] xref: OMIM:616689 {source="MONDO:equivalentTo"} xref: UMLS:C4225242 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -286887,12 +291794,14 @@ id: MONDO:0014738 name: autosomal dominant nonsyndromic deafness 69 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the KITLG gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 69" EXACT [DOID:0110590] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in KITLG" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 69" EXACT [DOID:0110590, MONDORULE:2] synonym: "DCUA" EXACT [DOID:0110590, OMIM:616697] synonym: "deafness, autosomal dominant 69" RELATED [OMIM:616697] synonym: "deafness, autosomal dominant 69; DFNA69" RELATED [OMIM:616697] synonym: "deafness, congenital, unilateral or asymmetric" EXACT [OMIM:616697] synonym: "DFNA69" EXACT [DOID:0110590] +synonym: "KITLG autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "unilateral or asymmetric congenital deafness" EXACT [DOID:0110590] xref: DOID:0110590 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110590"} @@ -286908,11 +291817,13 @@ id: MONDO:0014739 name: autosomal recessive nonsyndromic deafness 97 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the MET gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 97" EXACT [DOID:0110539] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in MET" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 97" EXACT [DOID:0110539, MONDORULE:2] synonym: "deafness, autosomal recessive 97" EXACT [OMIM:616705] synonym: "deafness, autosomal recessive 97; DFNB97" RELATED [OMIM:616705] synonym: "deafness, autosomal recessive type 97" EXACT [MONDORULE:2, OMIM:616705] synonym: "DFNB97" EXACT [DOID:0110539, OMIM:616705] +synonym: "MET autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110539 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110539"} xref: OMIM:616705 {source="DOID:0110539", source="MONDO:equivalentTo"} @@ -286927,11 +291838,13 @@ id: MONDO:0014740 name: autosomal dominant nonsyndromic deafness 68 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the HOMER2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 68" EXACT [DOID:0110589] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in HOMER2" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 68" EXACT [DOID:0110589, MONDORULE:2] synonym: "deafness, autosomal dominant 68" EXACT [OMIM:616707] synonym: "deafness, autosomal dominant 68; DFNA68" RELATED [OMIM:616707] synonym: "deafness, autosomal dominant type 68" EXACT [MONDORULE:2, OMIM:616707] synonym: "DFNA68" EXACT [DOID:0110589, OMIM:616707] +synonym: "HOMER2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110589 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110589"} xref: OMIM:616707 {source="DOID:0110589", source="MONDO:equivalentTo"} @@ -286963,8 +291876,10 @@ property_value: confidence "0.3500000000000001" xsd:double id: MONDO:0014742 name: Parkinson disease 22, autosomal dominant; PARK22 def: "Any Parkinson disease in which the cause of the disease is a mutation in the CHCHD2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CHCHD2 Parkinson disease" EXACT [MONDO:design_pattern] synonym: "PARK22" EXACT [OMIM:616710] synonym: "Parkinson disease 22, autosomal dominant" EXACT [OMIM:616710] +synonym: "Parkinson disease caused by mutation in CHCHD2" EXACT [MONDO:design_pattern] xref: OMIM:616710 {source="MONDO:equivalentTo"} xref: UMLS:C4225238 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0005180 {source="DC-OMIM:616710", source="OMIM:616710"} ! Parkinson disease @@ -286977,8 +291892,10 @@ id: MONDO:0014743 name: rhizomelic chondrodysplasia punctata type 5 def: "Any rhizomelic chondrodysplasia punctata in which the cause of the disease is a mutation in the PEX5 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_malformation_syndrome {source="Orphanet:468717"} +synonym: "PEX5 rhizomelic chondrodysplasia punctata" EXACT [MONDO:design_pattern] synonym: "RCDP5" EXACT [OMIM:616716] synonym: "Rcdp5" EXACT [DOID:0110854] +synonym: "rhizomelic chondrodysplasia punctata caused by mutation in PEX5" EXACT [MONDO:design_pattern] synonym: "rhizomelic chondrodysplasia punctata, type 5" EXACT [OMIM:616716] synonym: "rhizomelic chondrodysplasia punctata, type 5; RCDP5" RELATED [OMIM:616716] xref: DOID:0110854 {source="MONDO:equivalentTo"} @@ -287022,6 +291939,8 @@ id: MONDO:0014745 name: congenital myasthenic syndrome 19 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the COL13A1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CMS19" EXACT [DOID:0110673, OMIM:616720] +synonym: "COL13A1 congenital myasthenic syndrome" EXACT [MONDO:design_pattern] +synonym: "congenital myasthenic syndrome caused by mutation in COL13A1" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 19" EXACT [DOID:0110673, MONDORULE:2] synonym: "myasthenic syndrome, congenital, 19" EXACT [OMIM:616720] synonym: "myasthenic syndrome, congenital, 19; CMS19" RELATED [OMIM:616720] @@ -287029,7 +291948,7 @@ synonym: "myasthenic syndrome, congenital, type 19" EXACT [MONDORULE:2, OMIM:616 xref: DOID:0110673 {source="MONDO:equivalentTo"} xref: OMIM:616720 {source="DOID:0110673", source="MONDO:equivalentTo"} xref: UMLS:C4225235 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:616720"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110673", source="MONDO:Redundant", source="OMIM:616720"} ! congenital myasthenic syndrome is_a: MONDO:0020344 {source="ORDO:98913/btnt"} ! postsynaptic congenital myasthenic syndrome is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome @@ -287103,7 +292022,9 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0014749 name: tooth agenesis, selective, 7; STHAG7 def: "Any tooth agenesis in which the cause of the disease is a mutation in the LRP6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "LRP6 tooth agenesis" EXACT [MONDO:design_pattern] synonym: "STHAG7" EXACT [OMIM:616724] +synonym: "tooth agenesis caused by mutation in LRP6" EXACT [MONDO:design_pattern] synonym: "Tooth agenesis, selective, 7" EXACT [OMIM:616724] synonym: "Tooth agenesis, selective, type 7" EXACT [MONDORULE:1, OMIM:616724] xref: OMIM:616724 {source="MONDO:equivalentTo"} @@ -287124,7 +292045,9 @@ synonym: "ciliary dyskinesia, primary, 33" EXACT [OMIM:616726] synonym: "ciliary dyskinesia, primary, 33, without situs inversus" RELATED [OMIM:616726] synonym: "ciliary dyskinesia, primary, 33; CILD33" RELATED [OMIM:616726] synonym: "ciliary dyskinesia, primary, type 33" EXACT [MONDORULE:2, OMIM:616726] +synonym: "GAS8 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 33 without situs inversus" EXACT [DOID:0110619] +synonym: "primary ciliary dyskinesia caused by mutation in GAS8" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 33" EXACT [DOID:0110619, MONDORULE:2] xref: DOID:0110619 {source="MONDO:equivalentTo"} xref: ICD10:Q34.8 {source="DOID:0110619"} @@ -287158,8 +292081,10 @@ property_value: confidence "0.5" xsd:double id: MONDO:0014752 name: nephrotic syndrome, type 11; NPHS11 def: "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP107 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial nephrotic syndrome caused by mutation in NUP107" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 11" EXACT [OMIM:616730] synonym: "NPHS11" EXACT [OMIM:616730] +synonym: "NUP107 familial nephrotic syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616730 {source="MONDO:equivalentTo"} xref: UMLS:C4225228 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:616730"} ! familial nephrotic syndrome @@ -287197,9 +292122,11 @@ property_value: confidence "0.0" xsd:double id: MONDO:0014754 name: coenzyme Q10 deficiency, primary, 8; COQ10D8 def: "Any coenzyme Q10 deficiency in which the cause of the disease is a mutation in the COQ7 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "coenzyme Q10 deficiency caused by mutation in COQ7" EXACT [MONDO:design_pattern] synonym: "Coenzyme Q10 deficiency, primary, 8" EXACT [OMIM:616733] synonym: "Coenzyme Q10 deficiency, primary, type 8" EXACT [MONDORULE:1, OMIM:616733] synonym: "COQ10D8" EXACT [OMIM:616733] +synonym: "COQ7 coenzyme Q10 deficiency" EXACT [MONDO:design_pattern] xref: OMIM:616733 {source="MONDO:equivalentTo"} xref: UMLS:C4225226 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018151 {source="DC-OMIM:616733", source="OMIM:616733"} ! coenzyme Q10 deficiency @@ -287212,6 +292139,8 @@ id: MONDO:0014755 name: skin creases, congenital symmetric circumferential, 2; CSCSC2 def: "Any multiple benign circumferential skin creases on limbs in which the cause of the disease is a mutation in the MAPRE2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CSCSC2" EXACT [OMIM:616734] +synonym: "MAPRE2 multiple benign circumferential skin creases on limbs" EXACT [MONDO:design_pattern] +synonym: "multiple benign circumferential skin creases on limbs caused by mutation in MAPRE2" EXACT [MONDO:design_pattern] synonym: "skin creases, congenital symmetric circumferential, 2" EXACT [OMIM:616734] synonym: "skin creases, congenital symmetric circumferential, type 2" EXACT [MONDORULE:1, OMIM:616734] xref: OMIM:616734 {source="MONDO:equivalentTo"} @@ -287226,7 +292155,9 @@ property_value: confidence "2.31578947368421" xsd:double id: MONDO:0014756 name: tremor, hereditary essential, 5; ETM5 def: "Any essential tremor in which the cause of the disease is a mutation in the TENM4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "essential tremor caused by mutation in TENM4" EXACT [MONDO:design_pattern] synonym: "ETM5" RELATED [OMIM:616736] +synonym: "TENM4 essential tremor" EXACT [MONDO:design_pattern] synonym: "tremor, hereditary essential, 5" EXACT [OMIM:616736] synonym: "tremor, hereditary essential, type 5" EXACT [MONDORULE:1, OMIM:616736] xref: OMIM:616736 {source="MONDO:equivalentTo"} @@ -287260,6 +292191,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17 id: MONDO:0014758 name: radioulnar synostosis with amegakaryocytic thrombocytopenia 2; RUSAT2 def: "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the MECOM gene." [MONDO:patterns/disease_series_by_gene] +synonym: "MECOM radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" EXACT [MONDO:design_pattern] +synonym: "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in MECOM" EXACT [MONDO:design_pattern] synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia 2" EXACT [OMIM:616738] synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia type 2" EXACT [MONDORULE:1, OMIM:616738] synonym: "RUSAT2" EXACT [OMIM:616738] @@ -287275,6 +292208,8 @@ property_value: confidence "4.025" xsd:double id: MONDO:0014759 name: intellectual disability, autosomal recessive 51; MRT51 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the HNMT gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in HNMT" EXACT [MONDO:design_pattern] +synonym: "HNMT autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 51" EXACT [OMIM:616739] synonym: "mental retardation, autosomal recessive 51; MRT51" RELATED [OMIM:616739] synonym: "mental retardation, autosomal recessive type 51" EXACT [MONDORULE:2, OMIM:616739] @@ -287332,6 +292267,8 @@ name: heterotaxy, visceral, 7, autosomal; HTX7 def: "Any visceral heterotaxy in which the cause of the disease is a mutation in the MMP21 gene." [MONDO:patterns/disease_series_by_gene] synonym: "heterotaxy, visceral, 7, autosomal" EXACT [OMIM:616749] synonym: "HTX7" RELATED [OMIM:616749] +synonym: "MMP21 visceral heterotaxy" EXACT [MONDO:design_pattern] +synonym: "visceral heterotaxy caused by mutation in MMP21" EXACT [MONDO:design_pattern] xref: OMIM:616749 {source="MONDO:equivalentTo"} xref: UMLS:C4225217 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease @@ -287407,7 +292344,9 @@ def: "Any Seckel syndrome in which the cause of the disease is a mutation in the synonym: "SCKL9" EXACT [DOID:0070005, OMIM:616777] synonym: "Seckel syndrome 9" EXACT [OMIM:616777] synonym: "Seckel syndrome 9; SCKL9" RELATED [OMIM:616777] +synonym: "Seckel syndrome caused by mutation in TRAIP" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 9" EXACT [MONDORULE:1, OMIM:616777] +synonym: "TRAIP Seckel syndrome" EXACT [MONDO:design_pattern] xref: DOID:0070005 {source="MONDO:equivalentTo"} xref: OMIM:616777 {source="DOID:0070005", source="MONDO:equivalentTo"} xref: UMLS:C4225212 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -287423,10 +292362,12 @@ name: cerebral arteriopathy, autosomal dominant, with subcortical infarcts and l def: "Any CADASIL in which the cause of the disease is a mutation in the HTRA1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 2" EXACT [DOID:0111036] synonym: "CADASIL 2" EXACT [OMIM:616779] +synonym: "CADASIL caused by mutation in HTRA1" EXACT [MONDO:design_pattern] synonym: "CADASIL type 2" EXACT [DOID:0111036, MONDORULE:1] synonym: "CADASIL2" EXACT [OMIM:616779] synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2" EXACT [OMIM:616779] synonym: "cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2; CADASIL2" RELATED [OMIM:616779] +synonym: "HTRA1 CADASIL" EXACT [MONDO:design_pattern] xref: DOID:0111036 {source="MONDO:equivalentTo"} xref: ICD10:F01.1 {source="DOID:0111036"} xref: OMIM:616779 {source="DOID:0111036", source="MONDO:equivalentTo"} @@ -287453,9 +292394,11 @@ is_a: MONDO:0017143 {source="MONDO:cjm"} ! genetic infertility id: MONDO:0014770 name: Joubert syndrome 25 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the CEP104 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CEP104 Joubert syndrome" EXACT [MONDO:design_pattern] synonym: "JBTS25" EXACT [DOID:0110994, OMIM:616781] synonym: "Joubert syndrome 25" EXACT [OMIM:616781] synonym: "Joubert syndrome 25; JBTS25" RELATED [OMIM:616781] +synonym: "Joubert syndrome caused by mutation in CEP104" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 25" EXACT [DOID:0110994, MONDORULE:2, OMIM:616781] xref: DOID:0110994 {source="MONDO:equivalentTo"} xref: OMIM:616781 {source="DOID:0110994", source="MONDO:equivalentTo"} @@ -287472,7 +292415,9 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th synonym: "JBTS26" EXACT [DOID:0110995, OMIM:616784] synonym: "Joubert syndrome 26" EXACT [OMIM:616784] synonym: "Joubert syndrome 26; JBTS26" RELATED [OMIM:616784] +synonym: "Joubert syndrome caused by mutation in KIAA0556" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 26" EXACT [DOID:0110995, MONDORULE:2, OMIM:616784] +synonym: "KIAA0556 Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110995 {source="MONDO:equivalentTo"} xref: OMIM:616784 {source="DOID:0110995", source="MONDO:equivalentTo"} xref: UMLS:C4084843 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -287483,7 +292428,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29 [Term] id: MONDO:0014772 -name: orofacial cleft 15; OFC15 +name: orofacial cleft 15 +def: "Any cleft lip/palate in which the cause of the disease is a mutation in the DLX4 gene." [MONDO:design_pattern] +synonym: "cleft lip/palate caused by mutation in DLX4" EXACT [MONDO:design_pattern] +synonym: "DLX4 cleft lip/palate" EXACT [MONDO:design_pattern] synonym: "OFC15" EXACT [OMIM:616788] synonym: "orofacial cleft 15" EXACT [OMIM:616788] synonym: "orofacial cleft type 15" EXACT [MONDORULE:2, OMIM:616788] @@ -287493,7 +292441,7 @@ is_a: MONDO:0016044 {source="ORDO:199306/btnt"} ! cleft lip/palate intersection_of: MONDO:0016044 ! cleft lip/palate intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2917 ! DLX4 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/2917 {source="mim2gene_medgen"} ! DLX4 -property_value: confidence "1.7876687750502525" xsd:double +relationship: has_modifier MONDO:0021128 ! has an isolated presentation [Term] id: MONDO:0014773 @@ -287534,18 +292482,23 @@ is_a: MONDO:0005072 {source="DC-OMIM:616792"} ! neuroblastoma [Term] id: MONDO:0014775 name: neonatal severe cardiopulmonary failure due to mitochondrial methylation defect +def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the SLC25A26 gene." [MONDO:design_pattern] subset: ordo_disease {source="Orphanet:466784"} synonym: "combined oxidative phosphorylation defect type 28" EXACT [Orphanet:466784] synonym: "combined oxidative phosphorylation deficiency 28" EXACT [OMIM:616794] synonym: "combined oxidative phosphorylation deficiency 28; COXPD28" RELATED [OMIM:616794] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in SLC25A26" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 28" EXACT [MONDORULE:2, OMIM:616794] synonym: "COXPD28" EXACT [OMIM:616794, Orphanet:466784] +synonym: "SLC25A26 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: OMIM:616794 {source="MONDO:equivalentTo", source="Orphanet:466784"} xref: Orphanet:466784 {source="MONDO:equivalentTo"} xref: UMLS:C4225206 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:616794", source="OMIM:616794"} ! combined oxidative phosphorylation deficiency is_a: MONDO:0016801 {source="Orphanet:466784"} ! mitochondrial substrate carrier disorder is_a: MONDO:0018157 {source="Orphanet:466784"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis +intersection_of: MONDO:0000732 {source="mim2gene_medgen"} ! combined oxidative phosphorylation deficiency +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20661 {source="mim2gene_medgen"} ! SLC25A26 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20661 {source="mim2gene_medgen"} ! SLC25A26 property_value: confidence "1.6666666666666665" xsd:double @@ -287562,7 +292515,7 @@ xref: ICD10:G11.8 {source="Orphanet:458803", source="ORDO:458803/ntbt", source=" xref: OMIM:616795 {source="Orphanet:458803", source="ORDO:458803/e", source="MONDO:equivalentTo"} xref: Orphanet:458803 {source="MONDO:equivalentTo"} xref: UMLS:C4225205 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019793 {source="Orphanet:458803"} ! autosomal dominant cerebellar ataxia type III +is_a: MONDO:0019793 {source="EFO:0009059", source="Orphanet:458803"} ! autosomal dominant cerebellar ataxia type III relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1394 {source="mim2gene_medgen"} ! CACNA1G property_value: confidence "12.437500000000002" xsd:double @@ -287571,8 +292524,10 @@ id: MONDO:0014777 name: hypotonia, infantile, with psychomotor retardation and characteristic facies 2; IHPRF2 def: "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the UNC80 gene." [MONDO:patterns/disease_series_by_gene] synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 2" EXACT [OMIM:616801] +synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in UNC80" EXACT [MONDO:design_pattern] synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies type 2" EXACT [MONDORULE:1, OMIM:616801] synonym: "IHPRF2" EXACT [OMIM:616801] +synonym: "UNC80 hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:design_pattern] xref: OMIM:616801 {source="MONDO:equivalentTo"} xref: UMLS:C4225203 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0014176 {source="DC-OMIM:616801", source="OMIM:616801"} ! hypotonia, infantile, with psychomotor retardation and characteristic facies @@ -287614,6 +292569,8 @@ synonym: "glycosylphosphatidylinositol biosynthesis defect 12" RELATED [OMIM:616 synonym: "HPMRS6" EXACT [OMIM:616809] synonym: "hyperphosphatasia with mental retardation syndrome 6" EXACT [OMIM:616809] synonym: "hyperphosphatasia with mental retardation syndrome type 6" EXACT [MONDORULE:1, OMIM:616809] +synonym: "hyperphosphatasia-intellectual disability syndrome caused by mutation in PIGY" EXACT [MONDO:design_pattern] +synonym: "PIGY hyperphosphatasia-intellectual disability syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616809 {source="MONDO:equivalentTo"} xref: UMLS:C4225201 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016596 {source="OMIM:616809", source="ORDO:247262/btnt"} ! hyperphosphatasia-intellectual disability syndrome @@ -287627,8 +292584,10 @@ id: MONDO:0014781 name: combined oxidative phosphorylation deficiency 29; COXPD29 def: "Any combined oxidative phosphorylation deficiency in which the cause of the disease is a mutation in the TXN2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "combined oxidative phosphorylation deficiency 29" EXACT [OMIM:616811] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in TXN2" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 29" EXACT [MONDORULE:2, OMIM:616811] synonym: "COXPD29" EXACT [OMIM:616811] +synonym: "TXN2 combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: OMIM:616811 {source="MONDO:equivalentTo"} xref: UMLS:C4225200 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:616811", source="OMIM:616811"} ! combined oxidative phosphorylation deficiency @@ -287641,7 +292600,9 @@ id: MONDO:0014782 name: autosomal recessive limb-girdle muscular dystrophy type 2X def: "Autosomal recessive limb-girdle muscular dystrophy type 2X is a rare subtype of autosomal recessive limb-girdle muscular dystrophy characterized by atrioventricular block resulting in repeated syncope episodes, elevated creatine kinase serum levels and adult-onset of slowly progressive proximal limb skeletal muscle weakness and atrophy. Muscular dystrophic changes observed in muscle biopsy include diameter variability, increased central nuclei, and presence of necrotic and regenerating fibers." [Orphanet:476084] subset: ordo_disease {source="Orphanet:476084"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in BVES" EXACT [MONDO:design_pattern] synonym: "autosomal recessive limb-girdle muscular dystrophy-cardiac arrhythmia syndrome" EXACT [Orphanet:476084] +synonym: "BVES autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "LGMD2X" EXACT [DOID:0110290, OMIM:616812, Orphanet:476084] synonym: "muscular dystrophy, limb-girdle, type 2X" EXACT [DOID:0110290] synonym: "muscular dystrophy, limb-girdle, type 2x" EXACT [OMIM:616812] @@ -287662,9 +292623,11 @@ id: MONDO:0014783 name: preimplantation embryonic lethality 1; PREMBL1 def: "Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the TLE6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "preimplantation embryonic lethality 1" EXACT [OMIM:616814] +synonym: "preimplantation embryonic lethality caused by mutation in TLE6" EXACT [MONDO:design_pattern] synonym: "preimplantation embryonic lethality type 1" EXACT [MONDORULE:1, OMIM:616814] synonym: "Prembl" RELATED [OMIM:616814] synonym: "PREMBL1" EXACT [OMIM:616814] +synonym: "TLE6 preimplantation embryonic lethality" EXACT [MONDO:design_pattern] xref: OMIM:616814 {source="MONDO:equivalentTo"} xref: UMLS:C4225197 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000218 {source="DC-OMIM:616814", source="OMIM:616814"} ! preimplantation embryonic lethality @@ -287695,8 +292658,10 @@ id: MONDO:0014785 name: microcephaly, short stature, and impaired glucose metabolism 2; MSSGM2 def: "Any microcephaly, short stature, and impaired glucose metabolism in which the cause of the disease is a mutation in the PPP1R15B gene." [MONDO:patterns/disease_series_by_gene] synonym: "microcephaly, short stature, and impaired glucose metabolism 2" EXACT [OMIM:616817] +synonym: "microcephaly, short stature, and impaired glucose metabolism caused by mutation in PPP1R15B" EXACT [MONDO:design_pattern] synonym: "microcephaly, short stature, and impaired glucose metabolism type 2" EXACT [MONDORULE:1, OMIM:616817] synonym: "MSSGM2" EXACT [OMIM:616817] +synonym: "PPP1R15B microcephaly, short stature, and impaired glucose metabolism" EXACT [MONDO:design_pattern] xref: OMIM:616817 {source="MONDO:equivalentTo"} xref: UMLS:C4225195 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000208 {source="DC-OMIM:616817", source="MONDOLEX:0014785"} ! microcephaly, short stature, and impaired glucose metabolism @@ -287709,9 +292674,11 @@ property_value: confidence "29.33333333333344" xsd:double id: MONDO:0014786 name: IgA nephropathy, susceptibility to, 3; IGAN3 def: "Any IgA glomerulonephritis in which the cause of the disease is a mutation in the SPRY2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "IgA glomerulonephritis caused by mutation in SPRY2" EXACT [MONDO:design_pattern] synonym: "IgA Nephropathy, susceptibility to, 3" EXACT [OMIM:616818] synonym: "IgA Nephropathy, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:616818] synonym: "IGAN3" EXACT [OMIM:616818] +synonym: "SPRY2 IgA glomerulonephritis" EXACT [MONDO:design_pattern] synonym: "susceptibility to IgA nephropathy 3" RELATED [OMIM:616818] xref: OMIM:616818 {source="MONDO:equivalentTo"} xref: UMLS:C4225194 {source="NCBI:mim2gene_medline"} @@ -287745,7 +292712,9 @@ id: MONDO:0014788 name: autosomal recessive limb-girdle muscular dystrophy type 2W def: "Autosomal recessive limb-girdle muscular dystrophy type 2W is a subtype of autosomal recessive limb girdle muscular dystrophy characterized by childhood onset of severe, progressive, proximal skeletal muscle weakness and atrophy of the upper and lower limbs with later involvement of distal muscles and development of severe quadraparesis, calf hypertrophy, triangular tongue, and dilated cardiomyopathy. Skeletal muscles undergo diffuse, bilateral, symmetric and severe atrophy with fat infiltration." [Orphanet:466801] subset: ordo_disease {source="Orphanet:466801"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in LIMS2" EXACT [MONDO:design_pattern] synonym: "LGMD2W" EXACT [DOID:0110288, OMIM:616827, Orphanet:466801] +synonym: "LIMS2 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "muscular dystrophy, limb-girdle, type 2W" EXACT [DOID:0110288] synonym: "muscular dystrophy, limb-girdle, type 2w" EXACT [OMIM:616827] synonym: "muscular dystrophy, limb-girdle, type 2W; LGMD2W" RELATED [OMIM:616827] @@ -287852,8 +292821,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10 id: MONDO:0014794 name: Meier-Gorlin syndrome 6 def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the GMNN gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GMNN Meier-Gorlin syndrome" EXACT [MONDO:design_pattern] synonym: "Meier-Gorlin syndrome 6" EXACT [OMIM:616835] synonym: "Meier-GORLIN syndrome 6; MGORS6" RELATED [OMIM:616835] +synonym: "Meier-Gorlin syndrome caused by mutation in GMNN" EXACT [MONDO:design_pattern] synonym: "Meier-Gorlin syndrome type 6" EXACT [MONDORULE:1, OMIM:616835] synonym: "MGORS6" EXACT [OMIM:616835] xref: OMIM:616835 {source="MONDO:equivalentTo"} @@ -287886,11 +292857,13 @@ synonym: "autosomal recessive early-onset Parksinson disease type 23" EXACT [DOI synonym: "PARK23" EXACT [OMIM:616840] synonym: "Parkinson disease 23, autosomal recessive early-onset" EXACT [OMIM:616840] synonym: "Parkinson disease 23, autosomal recessive early-onset; PARK23" RELATED [OMIM:616840] +synonym: "VPS13C young-onset Parkinson disease" EXACT [MONDO:design_pattern] +synonym: "young-onset Parkinson disease caused by mutation in VPS13C" EXACT [MONDO:design_pattern] xref: DOID:0060896 {source="MONDO:equivalentTo"} xref: ICD10:G20 {source="DOID:0060896"} xref: OMIM:616840 {source="DOID:0060896", source="MONDO:equivalentTo"} xref: UMLS:C4225186 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0005180 {source="MONDO:Redundant", source="OMIM:616840"} ! Parkinson disease +is_a: MONDO:0005180 {source="DOID:0060896/inferred", source="MONDO:Redundant", source="OMIM:616840"} ! Parkinson disease is_a: MONDO:0017279 {source="DOID:0060896", source="MONDOLEX:0014796"} ! young-onset Parkinson disease intersection_of: MONDO:0017279 ! young-onset Parkinson disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23594 ! VPS13C @@ -287909,7 +292882,7 @@ synonym: "lymphedema, hereditary, type III" EXACT [MONDORULE:3, OMIM:616843] xref: EFO:0009153 {source="MONDO:equivalentTo"} xref: OMIM:616843 {source="MONDO:equivalentTo"} xref: UMLS:C4225184 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019297 {source="DC-OMIM:616843"} ! lymphedema +is_a: MONDO:0019297 {source="DC-OMIM:616843", source="EFO:0009153"} ! lymphedema relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28993 {source="mim2gene_medgen"} ! PIEZO1 [Term] @@ -287917,6 +292890,8 @@ id: MONDO:0014798 name: brachydactyly type A1D def: "Any brachydactyly type A1 in which the cause of the disease is a mutation in the BMPR1B gene." [MONDO:patterns/disease_series_by_gene] synonym: "BDA1D" EXACT [DOID:0110978, OMIM:616849] +synonym: "BMPR1B brachydactyly type A1" EXACT [MONDO:design_pattern] +synonym: "brachydactyly type A1 caused by mutation in BMPR1B" EXACT [MONDO:design_pattern] synonym: "brachydactyly, type A1, D" EXACT [OMIM:616849] synonym: "brachydactyly, type A1, D; BDA1D" RELATED [OMIM:616849] xref: DOID:0110978 {source="MONDO:equivalentTo"} @@ -287936,11 +292911,13 @@ synonym: "cataract 45" EXACT [OMIM:616851] synonym: "cataract 45; CTRCT45" RELATED [OMIM:616851] synonym: "cataract type 45" EXACT [DOID:0110262, MONDORULE:2, OMIM:616851] synonym: "CTRCT45" EXACT [DOID:0110262, OMIM:616851] +synonym: "early-onset non-syndromic cataract caused by mutation in SIPA1L3" EXACT [MONDO:design_pattern] +synonym: "SIPA1L3 early-onset non-syndromic cataract" EXACT [MONDO:design_pattern] xref: DOID:0110262 {source="MONDO:equivalentTo"} xref: ICD10:Q12.0 {source="DOID:0110262"} xref: OMIM:616851 {source="DOID:0110262", source="MONDO:equivalentTo"} xref: UMLS:C4225182 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0005129 {source="DOID", source="MONDO:Redundant", source="OMIM:616851"} ! cataract (disease) +is_a: MONDO:0005129 {source="DOID", source="DOID:0110262", source="MONDO:Redundant", source="OMIM:616851"} ! cataract (disease) is_a: MONDO:0011060 {source="ORDO:91492/btnt"} ! early-onset non-syndromic cataract intersection_of: MONDO:0011060 ! early-onset non-syndromic cataract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/23801 ! SIPA1L3 @@ -287985,10 +292962,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/52 id: MONDO:0014802 name: Cowden syndrome 7 def: "Any Cowden disease in which the cause of the disease is a mutation in the SEC23B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Cowden disease caused by mutation in SEC23B" EXACT [MONDO:design_pattern] synonym: "Cowden syndrome 7" EXACT [OMIM:616858] synonym: "Cowden syndrome 7; CWS7" RELATED [OMIM:616858] synonym: "Cowden syndrome type 7" EXACT [MONDORULE:1, OMIM:616858] synonym: "CWS7" RELATED [OMIM:616858] +synonym: "SEC23B Cowden disease" EXACT [MONDO:design_pattern] xref: OMIM:616858 {source="MONDO:equivalentTo"} xref: UMLS:C4225179 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016063 {source="DC-OMIM:616858", source="MONDOLEX:0014802", source="OMIM:616858"} ! Cowden disease @@ -288056,10 +293035,12 @@ is_a: MONDO:0016894 {source="Orphanet:500055"} ! partial deletion of the short a id: MONDO:0014806 name: spinal muscular atrophy with congenital bone fractures 1 def: "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the TRIP4 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in TRIP4" EXACT [MONDO:design_pattern] synonym: "SMABF1" EXACT [OMIM:616866] synonym: "spinal muscular atrophy with congenital bone fractures 1" EXACT [OMIM:616866] synonym: "spinal muscular atrophy with congenital bone fractures 1; SMABF1" RELATED [OMIM:616866] synonym: "spinal muscular atrophy with congenital bone fractures type 1" EXACT [MONDORULE:1, OMIM:616866] +synonym: "TRIP4 prenatal-onset spinal muscular atrophy with congenital bone fractures" EXACT [MONDO:design_pattern] xref: OMIM:616866 {source="MONDO:equivalentTo"} xref: UMLS:C4225177 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000209 {source="DC-OMIM:616866", source="OMIM:616866"} ! prenatal-onset spinal muscular atrophy with congenital bone fractures @@ -288071,6 +293052,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12 id: MONDO:0014807 name: spinal muscular atrophy with congenital bone fractures 2 def: "Any prenatal-onset spinal muscular atrophy with congenital bone fractures in which the cause of the disease is a mutation in the ASCC1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ASCC1 prenatal-onset spinal muscular atrophy with congenital bone fractures" EXACT [MONDO:design_pattern] +synonym: "prenatal-onset spinal muscular atrophy with congenital bone fractures caused by mutation in ASCC1" EXACT [MONDO:design_pattern] synonym: "SMABF2" EXACT [OMIM:616867] synonym: "spinal muscular atrophy with congenital bone fractures 2" EXACT [OMIM:616867] synonym: "spinal muscular atrophy with congenital bone fractures 2; SMABF2" RELATED [OMIM:616867] @@ -288091,6 +293074,8 @@ synonym: "DIAR8" EXACT [DOID:0060777, OMIM:616868] synonym: "diarrhea 8, secretory sodium, congenital" EXACT [OMIM:616868] synonym: "diarrhea 8, secretory sodium, congenital; DIAR8" RELATED [OMIM:616868] synonym: "diarrhea, congenital sodium" RELATED [OMIM:616868] +synonym: "secretory diarrhea caused by mutation in SLC9A3" EXACT [MONDO:design_pattern] +synonym: "SLC9A3 secretory diarrhea" EXACT [MONDO:design_pattern] xref: DOID:0060777 {source="MONDO:equivalentTo"} xref: ICD10:P78.3 {source="DOID:0060777"} xref: OMIM:616868 {source="DOID:0060777", source="MONDO:equivalentTo"} @@ -288099,6 +293084,7 @@ xref: UMLS:CN515063 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo" is_a: MONDO:0000249 {source="DOID:0060777"} ! secretory diarrhea is_a: MONDO:0000824 {source="DC-OMIM:616868", source="MONDO:Redundant", source="OMIM:616868"} ! congenital diarrhea is_a: MONDO:0015170 {source="ORDO:103908/btnt"} ! congenital sodium diarrhea +is_a: MONDO:0045032 ! congenital secretory diarrhea intersection_of: MONDO:0000249 ! secretory diarrhea intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11073 ! SLC9A3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11073 {source="mim2gene_medgen"} ! SLC9A3 @@ -288107,7 +293093,10 @@ property_value: confidence "1.8703703703703702" xsd:double [Term] id: MONDO:0014809 name: DDX41-related hematologic malignancy predisposition syndrome +def: "Any hereditary neoplastic syndrome in which the cause of the disease is a mutation in the DDX41 gene." [MONDO:design_pattern] subset: ordo_disease +synonym: "DDX41 hereditary neoplastic syndrome" EXACT [MONDO:design_pattern] +synonym: "hereditary neoplastic syndrome caused by mutation in DDX41" EXACT [MONDO:design_pattern] synonym: "MPLPF" EXACT [OMIM:616871] synonym: "myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to" EXACT [OMIM:616871] synonym: "myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to; MPLPF" RELATED [OMIM:616871] @@ -288117,24 +293106,31 @@ xref: Orphanet:488647 {source="MONDO:equivalentTo"} xref: UMLS:C4225174 {source="NCBI:mim2gene_medline"} is_a: MONDO:0003847 {source="MONDO:Redundant"} ! inherited genetic disease is_a: MONDO:0015356 {source="Orphanet:488647"} ! hereditary neoplastic syndrome +intersection_of: MONDO:0015356 ! hereditary neoplastic syndrome +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18674 ! DDX41 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18674 {source="mim2gene_medgen"} ! DDX41 [Term] id: MONDO:0014810 name: pancytopenia due to IKZF1 mutations +def: "Any syndrome with combined immunodeficiency in which the cause of the disease is a mutation in the IKZF1 gene." [MONDO:design_pattern] subset: ordo_disease {source="Orphanet:317473"} -synonym: "Cid due to IKAROS deficiency" EXACT [Orphanet:317473] +synonym: "CID due to IKAROS deficiency" EXACT [Orphanet:317473] synonym: "combined immunodeficiency due to IKAROS deficiency" EXACT [Orphanet:317473] synonym: "CVID13" EXACT [OMIM:616873] +synonym: "IKZF1 syndrome with combined immunodeficiency" EXACT [MONDO:design_pattern] synonym: "immunodeficiency, common variable, 13" EXACT [OMIM:616873] synonym: "immunodeficiency, common variable, 13; CVID13" RELATED [OMIM:616873] synonym: "immunodeficiency, common variable, type 13" EXACT [MONDORULE:2, OMIM:616873] +synonym: "syndrome with combined immunodeficiency caused by mutation in IKZF1" EXACT [MONDO:design_pattern] xref: ICD10:D81.8 {source="ORDO:317473/attributed", source="ORDO:317473/ntbt", source="Orphanet:317473"} xref: OMIM:616873 {source="ORDO:317473/e", source="Orphanet:317473", source="MONDO:equivalentTo"} xref: Orphanet:317473 {source="MONDO:equivalentTo"} xref: UMLS:C4225173 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015517 {source="DC-OMIM:616873", source="MONDOLEX:0014810", source="OMIM:616873"} ! common variable immunodeficiency is_a: MONDO:0018035 {source="Orphanet:317473"} ! syndrome with combined immunodeficiency +intersection_of: MONDO:0018035 ! syndrome with combined immunodeficiency +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13176 ! IKZF1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13176 {source="mim2gene_medgen"} ! IKZF1 property_value: confidence "2.692307692307692" xsd:double @@ -288163,15 +293159,17 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25 id: MONDO:0014813 name: hypomyelinating leukodystrophy 13 def: "Any leukodystrophy in which the cause of the disease is a mutation in the HIKESHI gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HIKESHI leukodystrophy" EXACT [MONDO:design_pattern] synonym: "HLD13" EXACT [DOID:0060795, OMIM:616881] synonym: "hypomyelinating leukodystrophy type 13" EXACT [DOID:0060795, MONDORULE:2] +synonym: "leukodystrophy caused by mutation in HIKESHI" EXACT [MONDO:design_pattern] synonym: "leukodystrophy, hypomyelinating, 13" EXACT [OMIM:616881] synonym: "leukodystrophy, hypomyelinating, 13; HLD13" RELATED [OMIM:616881] synonym: "leukodystrophy, hypomyelinating, type 13" EXACT [MONDORULE:2, OMIM:616881] xref: DOID:0060795 {source="MONDO:equivalentTo"} xref: OMIM:616881 {source="DOID:0060795", source="MONDO:equivalentTo"} xref: UMLS:C4225170 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0019046 {source="DOID:0060795", source="MONDO:Entailed", source="OMIM:616881"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0060795", source="DOID:0060795/inferred", source="MONDO:Entailed", source="OMIM:616881"} ! leukodystrophy intersection_of: MONDO:0019046 ! leukodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26938 ! HIKESHI relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26938 {source="mim2gene_medgen"} ! HIKESHI @@ -288180,12 +293178,14 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26 id: MONDO:0014814 name: advanced sleep phase syndrome 3 def: "Any advanced sleep phase syndrome in which the cause of the disease is a mutation in the PER3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "advanced sleep phase syndrome caused by mutation in PER3" EXACT [MONDO:design_pattern] synonym: "advanced sleep phase syndrome type 3" EXACT [DOID:0110013, MONDORULE:1] synonym: "advanced sleep phase syndrome, familial, 3" EXACT [OMIM:616882] synonym: "advanced sleep phase syndrome, familial, 3; FASPS3" RELATED [OMIM:616882] synonym: "advanced sleep phase syndrome, familial, type 3" EXACT [MONDORULE:1, OMIM:616882] synonym: "familial advanced sleep phase syndrome 3" EXACT [DOID:0110013] synonym: "FASPS3" EXACT [DOID:0110013, OMIM:616882] +synonym: "PER3 advanced sleep phase syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110013 {source="MONDO:equivalentTo"} xref: OMIM:616882 {source="DOID:0110013", source="MONDO:equivalentTo"} xref: UMLS:C4225169 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -288199,6 +293199,8 @@ property_value: confidence "1.3640000124421054" xsd:double id: MONDO:0014815 name: intellectual disability, autosomal recessive 52 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the LMAN2L gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in LMAN2L" EXACT [MONDO:design_pattern] +synonym: "LMAN2L autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 52" EXACT [OMIM:616887] synonym: "mental retardation, autosomal recessive 52; MRT52" RELATED [OMIM:616887] synonym: "mental retardation, autosomal recessive type 52" EXACT [MONDORULE:2, OMIM:616887] @@ -288235,8 +293237,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17 id: MONDO:0014817 name: nephrotic syndrome, type 12; NPHS12 def: "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP93 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial nephrotic syndrome caused by mutation in NUP93" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 12" EXACT [OMIM:616892] synonym: "NPHS12" EXACT [OMIM:616892] +synonym: "NUP93 familial nephrotic syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616892 {source="MONDO:equivalentTo"} xref: UMLS:C4225166 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:616892"} ! familial nephrotic syndrome @@ -288251,8 +293255,10 @@ property_value: confidence "0.5000000000000002" xsd:double id: MONDO:0014818 name: nephrotic syndrome, type 13; NPHS13 def: "Any familial nephrotic syndrome in which the cause of the disease is a mutation in the NUP205 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial nephrotic syndrome caused by mutation in NUP205" EXACT [MONDO:design_pattern] synonym: "nephrotic syndrome, type 13" EXACT [OMIM:616893] synonym: "NPHS13" EXACT [OMIM:616893] +synonym: "NUP205 familial nephrotic syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616893 {source="MONDO:equivalentTo"} xref: UMLS:C4225165 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0002350 {source="MONDO:Redundant", source="OMIM:616893"} ! familial nephrotic syndrome @@ -288269,6 +293275,8 @@ name: autosomal dominant Robinow syndrome 3 def: "Any Robinow syndrome in which the cause of the disease is a mutation in the DVL3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant Robinow syndrome type 3" EXACT [DOID:0060767, MONDORULE:1] synonym: "DRS3" EXACT [DOID:0060767, OMIM:616894] +synonym: "DVL3 Robinow syndrome" EXACT [MONDO:design_pattern] +synonym: "Robinow syndrome caused by mutation in DVL3" EXACT [MONDO:design_pattern] synonym: "Robinow syndrome, autosomal dominant 3" EXACT [OMIM:616894] synonym: "Robinow syndrome, autosomal dominant 3; DRS3" RELATED [OMIM:616894] synonym: "Robinow syndrome, autosomal dominant type 3" EXACT [MONDORULE:1, OMIM:616894] @@ -288279,7 +293287,7 @@ xref: Orphanet:3107 {source="DOID:0060767", source="MONDO:subClassOf"} xref: Orphanet:97360 {source="DOID:0060767", source="MONDO:subClassOf"} xref: UMLS:C4225164 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0008389 {source="MONDOLEX:0014819", source="ORDO:3107/btnt"} ! autosomal dominant Robinow syndrome -is_a: MONDO:0019978 {source="MONDO:Redundant", source="OMIM:616894"} ! Robinow syndrome +is_a: MONDO:0019978 {source="DOID:0060767", source="MONDO:Redundant", source="OMIM:616894"} ! Robinow syndrome intersection_of: MONDO:0019978 ! Robinow syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3087 ! DVL3 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/3087 {source="mim2gene_medgen"} ! DVL3 @@ -288290,7 +293298,9 @@ id: MONDO:0014820 name: mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type); MTDPS14 def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the OPA1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "mitochondrial DNA depletion syndrome 14 (cardioencephalomyopathic type)" EXACT [OMIM:616896] +synonym: "mitochondrial DNA depletion syndrome caused by mutation in OPA1" EXACT [MONDO:design_pattern] synonym: "MTDPS14" EXACT [OMIM:616896] +synonym: "OPA1 mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616896 {source="MONDO:equivalentTo"} xref: UMLS:C4225163 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018158 {source="DC-OMIM:616896", source="OMIM:616896"} ! mitochondrial DNA depletion syndrome @@ -288319,7 +293329,6 @@ id: MONDO:0014822 name: 15q14 microdeletion syndrome def: "15q14 microdeletion syndrome is a recently described syndrome characterized by developmental delay, short stature and facial dysmorphism." [Orphanet:261190] subset: ordo_malformation_syndrome {source="Orphanet:261190"} -synonym: "chromosome 15Q14 deletion syndrome" RELATED [OMIM:616898] synonym: "chromosome 15q14 deletion syndrome" RELATED [OMIM:616898] synonym: "Del(15)(q14)" EXACT [Orphanet:261190] synonym: "monosomy 15q14" EXACT [Orphanet:261190] @@ -288398,7 +293407,9 @@ id: MONDO:0014827 name: autosomal recessive spastic paraplegia type 76 def: "Autosomal recessive spastic paraplegia type 76 is a rare, complex hereditary spastic paraplegia characterized by adult onset slowly progressive, mild to moderate lower limb spasticity and hyperreflexia, resulting in gait disturbances, commonly associated with upper limb hyperreflexia and dysarthria. Foot deformities (usually pes cavus) and extensor plantar responses are also frequent. Additional features may include ataxia, lower limb weakness/amyotrophy, abnormal bladder function, distal sensory loss and mild intellectual deterioration." [Orphanet:488594] subset: ordo_disease +synonym: "autosomal recessive complex spastic paraplegia caused by mutation in CAPN1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive spastic paraplegia 76" EXACT [DOID:0110821] +synonym: "CAPN1 autosomal recessive complex spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia 76" RELATED [DOID:0110821] synonym: "hereditary spastic paraplegia type 76" EXACT [DOID:0110821, MONDORULE:2] synonym: "spastic paraplegia 76, autosomal recessive" EXACT [OMIM:616907] @@ -288410,7 +293421,7 @@ xref: OMIM:616907 {source="Orphanet:488594", source="DOID:0110821", source="MOND xref: Orphanet:488594 {source="MONDO:equivalentTo"} xref: UMLS:C4310800 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015089 {source="Orphanet:488594"} ! autosomal recessive complex spastic paraplegia -is_a: MONDO:0019064 {source="DC-OMIM:616907", source="DOID:0110821", source="MONDO:Redundant", source="OMIM:616907", source="Orphanet:488594/inferred"} ! hereditary spastic paraplegia +is_a: MONDO:0019064 {source="DC-OMIM:616907", source="DOID:0110821", source="EFO:0009019/inferred", source="MONDO:Redundant", source="OMIM:616907", source="Orphanet:488594/inferred"} ! hereditary spastic paraplegia intersection_of: MONDO:0015089 ! autosomal recessive complex spastic paraplegia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1476 ! CAPN1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/1476 {source="mim2gene_medgen"} ! CAPN1 @@ -288419,10 +293430,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14 id: MONDO:0014828 name: immunodeficiency-centromeric instability-facial anomalies syndrome 3 def: "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the CDCA7 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CDCA7 immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern] synonym: "ICF syndrome 3" EXACT [DOID:0090010] synonym: "ICF3" RELATED [OMIM:616910] synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome 3" EXACT [OMIM:616910] synonym: "immunodeficiency-centromeric instability-FACIAL anomalies syndrome 3; ICF3" RELATED [OMIM:616910] +synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in CDCA7" EXACT [MONDO:design_pattern] synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 3" EXACT [MONDORULE:1, OMIM:616910] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 3" EXACT [DOID:0090010, MONDORULE:1] xref: DOID:0090010 {source="MONDO:equivalentTo"} @@ -288439,10 +293452,12 @@ property_value: confidence "3.0" xsd:double id: MONDO:0014829 name: immunodeficiency-centromeric instability-facial anomalies syndrome 4 def: "Any immunodeficiency-centromeric instability-facial anomalies syndrome in which the cause of the disease is a mutation in the HELLS gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HELLS immunodeficiency-centromeric instability-facial anomalies syndrome" EXACT [MONDO:design_pattern] synonym: "ICF syndrome 4" EXACT [DOID:0090011] synonym: "ICF4" RELATED [OMIM:616911] synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome 4" EXACT [OMIM:616911] synonym: "immunodeficiency-centromeric instability-FACIAL anomalies syndrome 4; ICF4" RELATED [OMIM:616911] +synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome caused by mutation in HELLS" EXACT [MONDO:design_pattern] synonym: "immunodeficiency-centromeric instability-Facial anomalies syndrome type 4" EXACT [MONDORULE:1, OMIM:616911] synonym: "immunodeficiency-centromeric instability-facial anomalies syndrome type 4" EXACT [DOID:0090011, MONDORULE:1] xref: DOID:0090011 {source="MONDO:equivalentTo"} @@ -288464,6 +293479,8 @@ synonym: "autosomal dominant thrombocytopenia with platelet secretion defect" EX synonym: "BDPLT20" EXACT [DOID:0111055, OMIM:616913] synonym: "bleeding disorder, Platelet-type, 20" EXACT [OMIM:616913] synonym: "bleeding disorder, PLATELET-type, 20; BDPLT20" RELATED [OMIM:616913] +synonym: "inherited bleeding disorder, platelet-type caused by mutation in SLFN14" EXACT [MONDO:design_pattern] +synonym: "SLFN14 inherited bleeding disorder, platelet-type" EXACT [MONDO:design_pattern] xref: DOID:0111055 {source="MONDO:equivalentTo"} xref: OMIM:616913 {source="DOID:0111055", source="Orphanet:466806", source="MONDO:equivalentTo"} xref: Orphanet:466806 {source="DOID:0111055", source="MONDO:equivalentTo"} @@ -288545,7 +293562,9 @@ id: MONDO:0014835 name: striatal degeneration, autosomal dominant 2; ADSD2 def: "Any striatal degeneration, autosomal dominant in which the cause of the disease is a mutation in the PDE10A gene." [MONDO:patterns/disease_series_by_gene] synonym: "ADSD2" EXACT [OMIM:616922] +synonym: "PDE10A striatal degeneration, autosomal dominant" EXACT [MONDO:design_pattern] synonym: "striatal Degeneration, autosomal dominant 2" EXACT [OMIM:616922] +synonym: "striatal degeneration, autosomal dominant caused by mutation in PDE10A" EXACT [MONDO:design_pattern] synonym: "striatal Degeneration, autosomal dominant type 2" EXACT [MONDORULE:1, OMIM:616922] xref: OMIM:616922 {source="MONDO:equivalentTo"} xref: UMLS:C4310791 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -288558,15 +293577,17 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/87 id: MONDO:0014836 name: Charcot-Marie-tooth disease axonal type 2CC def: "Any Charcot-Marie-tooth disease in which the cause of the disease is a mutation in the NEFH gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Charcot-Marie-tooth disease caused by mutation in NEFH" EXACT [MONDO:design_pattern] synonym: "Charcot-Marie-Tooth disease, axonal, type 2cc" EXACT [OMIM:616924] synonym: "Charcot-Marie-Tooth disease, axonal, type 2CC; CMT2CC" RELATED [OMIM:616924] synonym: "Charcot-Marie-Tooth neuropathy type 2CC" EXACT [DOID:0110180] synonym: "Charcot-Marie-Tooth neuropathy, type 2Cc" RELATED [OMIM:616924] synonym: "CMT2CC" EXACT [DOID:0110180, OMIM:616924] +synonym: "NEFH Charcot-Marie-tooth disease" EXACT [MONDO:design_pattern] xref: DOID:0110180 {source="MONDO:equivalentTo"} xref: OMIM:616924 {source="DOID:0110180", source="MONDO:equivalentTo"} xref: UMLS:C4310790 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:616924"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110180/inferred", source="MONDO:Redundant", source="OMIM:616924"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110180"} ! Charcot-Marie-tooth disease type 2 intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7737 ! NEFH @@ -288596,8 +293617,10 @@ name: Coffin-Siris syndrome 5 def: "Any Coffin-Siris syndrome in which the cause of the disease is a mutation in the SMARCE1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Coffin-Siris syndrome 5" EXACT [OMIM:616938] synonym: "COFFIN-SIRIS syndrome 5; CSS5" RELATED [OMIM:616938] +synonym: "Coffin-Siris syndrome caused by mutation in SMARCE1" EXACT [MONDO:design_pattern] synonym: "Coffin-Siris syndrome type 5" EXACT [MONDORULE:1, OMIM:616938] synonym: "CSS5" RELATED [OMIM:616938] +synonym: "SMARCE1 Coffin-Siris syndrome" EXACT [MONDO:design_pattern] xref: OMIM:616938 {source="MONDO:equivalentTo"} xref: UMLS:C4310788 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015452 {source="DC-OMIM:616938", source="OMIM:616938", source="ORDO:1465/btnt"} ! Coffin-Siris syndrome @@ -288623,6 +293646,8 @@ def: "Any autosomal agammaglobulinemia in which the cause of the disease is a mu synonym: "agammaglobulinemia 8, autosomal dominant" EXACT [OMIM:616941] synonym: "agammaglobulinemia, autosomal dominant, due to TCF3 defect" RELATED [OMIM:616941] synonym: "AGM8" RELATED [OMIM:616941] +synonym: "autosomal agammaglobulinemia caused by mutation in TCF3" EXACT [MONDO:design_pattern] +synonym: "TCF3 autosomal agammaglobulinemia" EXACT [MONDO:design_pattern] xref: OMIM:616941 {source="MONDO:equivalentTo"} xref: UMLS:C4310786 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0011096 {source="ORDO:33110/btnt"} ! autosomal agammaglobulinemia @@ -288636,6 +293661,8 @@ property_value: confidence "1.0498438571428572" xsd:double id: MONDO:0014841 name: trichothiodystrophy 6, nonphotosensitive; TTD6 def: "Any nonphotosensitive trichothiodystrophy in which the cause of the disease is a mutation in the GTF2E2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GTF2E2 nonphotosensitive trichothiodystrophy" EXACT [MONDO:design_pattern] +synonym: "nonphotosensitive trichothiodystrophy caused by mutation in GTF2E2" EXACT [MONDO:design_pattern] synonym: "trichothiodystrophy 6, nonphotosensitive" EXACT [OMIM:616943] synonym: "TTD6" RELATED [OMIM:616943] xref: OMIM:616943 {source="MONDO:equivalentTo"} @@ -288653,10 +293680,12 @@ name: intellectual disability, autosomal dominant 41; MRD41 def: "Any autosomal dominant non-syndromic intellectual disability in which the cause of the disease is a mutation in the TBL1XR1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant mental retardation 41" EXACT [DOID:0070071] synonym: "autosomal dominant non-syndromic intellectual disability 41" RELATED [DOID:0070071] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in TBL1XR1" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 41" EXACT [OMIM:616944] synonym: "mental retardation, autosomal dominant 41; MRD41" RELATED [OMIM:616944] synonym: "mental retardation, autosomal dominant type 41" EXACT [MONDORULE:2, OMIM:616944] synonym: "MRD41" EXACT [DOID:0070071, OMIM:616944] +synonym: "TBL1XR1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] xref: DOID:0070071 {source="MONDO:equivalentTo"} xref: OMIM:616944 {source="DOID:0070071", source="MONDO:equivalentTo"} xref: UMLS:C0795942 {source="NCBI:mim2gene_medline", source="MONDO:relatedTo"} @@ -288671,9 +293700,11 @@ relationship: has_modifier HP:0000006 ! Autosomal dominant inheritance id: MONDO:0014843 name: premature ovarian failure 11; POF11 def: "Any primary ovarian failure in which the cause of the disease is a mutation in the ERCC6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ERCC6 primary ovarian failure" EXACT [MONDO:design_pattern] synonym: "POF11" EXACT [OMIM:616946] synonym: "premature ovarian failure 11" EXACT [OMIM:616946] synonym: "premature ovarian failure type 11" EXACT [MONDORULE:2, OMIM:616946] +synonym: "primary ovarian failure caused by mutation in ERCC6" EXACT [MONDO:design_pattern] xref: OMIM:616946 {source="MONDO:equivalentTo"} xref: UMLS:C4310783 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease @@ -288689,6 +293720,8 @@ def: "Any primary ovarian failure in which the cause of the disease is a mutatio synonym: "POF12" EXACT [OMIM:616947] synonym: "premature ovarian failure 12" EXACT [OMIM:616947] synonym: "premature ovarian failure type 12" EXACT [MONDORULE:2, OMIM:616947] +synonym: "primary ovarian failure caused by mutation in SYCE1" EXACT [MONDO:design_pattern] +synonym: "SYCE1 primary ovarian failure" EXACT [MONDO:design_pattern] xref: OMIM:616947 {source="MONDO:equivalentTo"} xref: UMLS:C4310782 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease @@ -288701,9 +293734,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28 id: MONDO:0014845 name: spinocerebellar ataxia, autosomal recessive 22; SCAR22 def: "Any autosomal recessive cerebellar ataxia in which the cause of the disease is a mutation in the VWA3B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive cerebellar ataxia caused by mutation in VWA3B" EXACT [MONDO:design_pattern] synonym: "SCAR22" EXACT [OMIM:616948] synonym: "spinocerebellar ataxia, autosomal recessive 22" EXACT [OMIM:616948] synonym: "spinocerebellar ataxia, autosomal recessive type 22" EXACT [MONDORULE:2, OMIM:616948] +synonym: "VWA3B autosomal recessive cerebellar ataxia" EXACT [MONDO:design_pattern] xref: OMIM:616948 {source="MONDO:equivalentTo"} xref: UMLS:C4310781 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015244 {source="MONDO:cjm"} ! autosomal recessive cerebellar ataxia @@ -288732,9 +293767,11 @@ property_value: confidence "12.437500000000002" xsd:double id: MONDO:0014847 name: spermatogenic failure 15; SPGF15 def: "Any azoospermia in which the cause of the disease is a mutation in the SYCE1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "azoospermia caused by mutation in SYCE1" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 15" EXACT [OMIM:616950] synonym: "spermatogenic failure type 15" EXACT [MONDORULE:2, OMIM:616950] synonym: "SPGF15" EXACT [OMIM:616950] +synonym: "SYCE1 azoospermia" EXACT [MONDO:design_pattern] xref: OMIM:616950 {source="MONDO:equivalentTo"} xref: UMLS:C4310779 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="DC-OMIM:616950", source="OMIM:616950"} ! azoospermia @@ -288780,7 +293817,9 @@ id: MONDO:0014849 name: autosomal recessive nonsyndromic deafness 105 def: "Any autosomal recessive nonsyndromic deafness in which the cause of the disease is a mutation in the CDC14A gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive deafness 105" EXACT [DOID:0110466] +synonym: "autosomal recessive nonsyndromic deafness caused by mutation in CDC14A" EXACT [MONDO:design_pattern] synonym: "autosomal recessive nonsyndromic deafness type 105" EXACT [DOID:0110466, MONDORULE:2] +synonym: "CDC14A autosomal recessive nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal recessive 105" EXACT [OMIM:616958] synonym: "deafness, autosomal recessive 105; DFNB105" RELATED [OMIM:616958] synonym: "deafness, autosomal recessive type 105" EXACT [MONDORULE:2, OMIM:616958] @@ -288808,9 +293847,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17 id: MONDO:0014851 name: hypercalcemia, infantile, 2; HCINF2 def: "Any autosomal recessive infantile hypercalcemia in which the cause of the disease is a mutation in the SLC34A1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive infantile hypercalcemia caused by mutation in SLC34A1" EXACT [MONDO:design_pattern] synonym: "HCINF2" EXACT [OMIM:616963] synonym: "hypercalcemia, infantile, 2" EXACT [OMIM:616963] synonym: "hypercalcemia, infantile, type 2" EXACT [MONDORULE:1, OMIM:616963] +synonym: "SLC34A1 autosomal recessive infantile hypercalcemia" EXACT [MONDO:design_pattern] xref: OMIM:616963 {source="MONDO:equivalentTo"} xref: UMLS:C4310473 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:CN262351 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -288840,11 +293881,13 @@ id: MONDO:0014853 name: autosomal dominant nonsyndromic deafness 70 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the MCM2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 70" EXACT [DOID:0110592] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in MCM2" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 70" EXACT [DOID:0110592, MONDORULE:2] synonym: "deafness, autosomal dominant 70" EXACT [OMIM:616968] synonym: "deafness, autosomal dominant 70; DFNA70" RELATED [OMIM:616968] synonym: "deafness, autosomal dominant type 70" EXACT [MONDORULE:2, OMIM:616968] synonym: "DFNA70" EXACT [DOID:0110592, OMIM:616968] +synonym: "MCM2 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] xref: DOID:0110592 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="DOID:0110592"} xref: OMIM:616968 {source="DOID:0110592", source="MONDO:equivalentTo"} @@ -288859,7 +293902,9 @@ id: MONDO:0014854 name: autosomal dominant nonsyndromic deafness 66 def: "Any autosomal dominant nonsyndromic deafness in which the cause of the disease is a mutation in the CD164 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal dominant deafness 66" EXACT [DOID:0110587] +synonym: "autosomal dominant nonsyndromic deafness caused by mutation in CD164" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic deafness type 66" EXACT [DOID:0110587, MONDORULE:2] +synonym: "CD164 autosomal dominant nonsyndromic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal dominant 66" EXACT [OMIM:616969] synonym: "deafness, autosomal dominant 66; DFNA66" RELATED [OMIM:616969] synonym: "deafness, autosomal dominant type 66" EXACT [MONDORULE:2, OMIM:616969] @@ -288880,6 +293925,8 @@ def: "Any autosomal dominant non-syndromic intellectual disability in which the comment: Editor note: check status as syndromic synonym: "autosomal dominant mental retardation 42" EXACT [DOID:0070072] synonym: "autosomal dominant non-syndromic intellectual disability 42" RELATED [DOID:0070072] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in GNB1" EXACT [MONDO:design_pattern] +synonym: "GNB1 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal dominant 42" EXACT [OMIM:616973] synonym: "mental retardation, autosomal dominant 42; MRD42" RELATED [OMIM:616973] synonym: "mental retardation, autosomal dominant type 42" EXACT [MONDORULE:2, OMIM:616973] @@ -288901,14 +293948,16 @@ def: "Any combined oxidative phosphorylation deficiency in which the cause of th subset: ordo_disease {source="Orphanet:478042"} synonym: "combined oxidative phosphorylation deficiency 30" EXACT [OMIM:616974] synonym: "combined oxidative phosphorylation deficiency 30; COXPD30" RELATED [OMIM:616974] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in TRMT10C" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 30" EXACT [MONDORULE:2, OMIM:616974] synonym: "COXPD30" EXACT [OMIM:616974, Orphanet:478042] +synonym: "TRMT10C combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: EFO:0009038 {source="MONDO:equivalentTo"} xref: OMIM:616974 {source="Orphanet:478042", source="MONDO:equivalentTo"} xref: Orphanet:478042 {source="MONDO:equivalentTo"} xref: UMLS:C4310773 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000732 {source="DC-OMIM:616974", source="OMIM:616974"} ! combined oxidative phosphorylation deficiency -is_a: MONDO:0018157 {source="Orphanet:478042"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis +is_a: MONDO:0018157 {source="EFO:0009038", source="Orphanet:478042"} ! mitochondrial disorder due to a defect in mitochondrial protein synthesis is_a: MONDO:0019058 {source="Orphanet:478042"} ! neurometabolic disease intersection_of: MONDO:0000732 ! combined oxidative phosphorylation deficiency intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26022 ! TRMT10C @@ -288932,6 +293981,8 @@ def: "Any autosomal dominant non-syndromic intellectual disability in which the synonym: "autosomal dominant intellectual disability-43" RELATED [GARD:0013179] synonym: "autosomal dominant mental retardation 43" EXACT [DOID:0070073] synonym: "autosomal dominant non-syndromic intellectual disability 43" RELATED [DOID:0070073] +synonym: "autosomal dominant non-syndromic intellectual disability caused by mutation in HIVEP2" EXACT [MONDO:design_pattern] +synonym: "HIVEP2 autosomal dominant non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "HIVEP2-related intellectual disability" RELATED [GARD:0013179] synonym: "mental retardation, autosomal dominant 43" EXACT [OMIM:616977] synonym: "mental retardation, autosomal dominant 43; MRD43" RELATED [OMIM:616977] @@ -288951,9 +294002,11 @@ relationship: has_modifier HP:0000006 ! Autosomal dominant inheritance id: MONDO:0014859 name: epileptic encephalopathy, early infantile, 37; EIEE37 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FRRS1L gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in FRRS1L" EXACT [MONDO:design_pattern] synonym: "EIEE37" EXACT [OMIM:616981] synonym: "epileptic encephalopathy, early infantile, 37" EXACT [OMIM:616981] synonym: "epileptic encephalopathy, early infantile, type 37" EXACT [MONDORULE:2, OMIM:616981] +synonym: "FRRS1L early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:616981 {source="MONDO:equivalentTo"} xref: UMLS:C4310770 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:616981", source="OMIM:616981"} ! early infantile epileptic encephalopathy @@ -288981,8 +294034,10 @@ id: MONDO:0014861 name: autoimmune disease, multisystem, infantile-onset, 2; ADMIO2 def: "Any autoimmune disease, multisystem, infantile-onset in which the cause of the disease is a mutation in the ZAP70 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ADMIO2" EXACT [OMIM:617006] +synonym: "autoimmune disease, multisystem, infantile-onset caused by mutation in ZAP70" EXACT [MONDO:design_pattern] synonym: "autoimmune disease, multisystem, infantile-onset, 2" EXACT [OMIM:617006] synonym: "autoimmune disease, multisystem, infantile-onset, type 2" EXACT [MONDORULE:1, OMIM:617006] +synonym: "ZAP70 autoimmune disease, multisystem, infantile-onset" EXACT [MONDO:design_pattern] xref: OMIM:617006 {source="MONDO:equivalentTo"} xref: UMLS:C4310768 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000213 {source="DC-OMIM:617006", source="MONDOLEX:0014861", source="OMIM:617006"} ! autoimmune disease, multisystem, infantile-onset @@ -288994,9 +294049,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12 id: MONDO:0014862 name: cerebral palsy, spastic quadriplegic, 3; CPSQ3 def: "Any spastic quadriplegia in which the cause of the disease is a mutation in the ADD3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ADD3 spastic quadriplegia" EXACT [MONDO:design_pattern] synonym: "cerebral palsy, spastic quadriplegic, 3" EXACT [OMIM:617008] synonym: "cerebral palsy, spastic quadriplegic, type 3" EXACT [MONDORULE:1, OMIM:617008] synonym: "CPSQ3" EXACT [OMIM:617008] +synonym: "spastic quadriplegia caused by mutation in ADD3" EXACT [MONDO:design_pattern] xref: OMIM:617008 {source="MONDO:equivalentTo"} xref: UMLS:C4310767 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016215 {source="DC-OMIM:617008", source="OMIM:617008"} ! spastic quadriplegia @@ -289021,7 +294078,9 @@ name: hypermanganesemia with dystonia 2; HMNDYT2 def: "Any hypermanganesemia with dystonia in which the cause of the disease is a mutation in the SLC39A14 gene." [MONDO:patterns/disease_series_by_gene] synonym: "HMNDYT2" EXACT [OMIM:617013] synonym: "hypermanganesemia with Dystonia 2" EXACT [OMIM:617013] +synonym: "hypermanganesemia with dystonia caused by mutation in SLC39A14" EXACT [MONDO:design_pattern] synonym: "hypermanganesemia with Dystonia type 2" EXACT [MONDORULE:1, OMIM:617013] +synonym: "SLC39A14 hypermanganesemia with dystonia" EXACT [MONDO:design_pattern] xref: OMIM:617013 {source="MONDO:equivalentTo"} xref: UMLS:C4310765 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000214 {source="DC-OMIM:617013", source="OMIM:617013"} ! hypermanganesemia with dystonia @@ -289066,7 +294125,7 @@ xref: OMIM:616233 {source="ORDO:443950/nd", source="Orphanet:443950"} xref: OMIM:617017 {source="Orphanet:443950", source="ORDO:443950/btnt", source="DOID:0110160", source="MONDO:equivalentTo"} xref: Orphanet:443950 {source="DOID:0110160", source="MONDO:equivalentTo"} xref: UMLS:C4015635 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="MONDO:Redundant", source="OMIM:617017", source="Orphanet:443950/inferred"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0110160/inferred", source="MONDO:Redundant", source="OMIM:617017", source="Orphanet:443950/inferred"} ! Charcot-Marie-tooth disease is_a: MONDO:0018993 {source="DOID:0110160"} ! Charcot-Marie-tooth disease type 2 is_a: MONDO:0019601 {source="MONDOLEX:0014866", source="Orphanet:443950"} ! autosomal recessive axonal hereditary motor and sensory neuropathy intersection_of: MONDO:0015626 ! Charcot-Marie-tooth disease @@ -289080,6 +294139,8 @@ property_value: confidence "14.488888888888892" xsd:double id: MONDO:0014867 name: spinocerebellar ataxia 43; SCA43 def: "Spinocerebellar ataxia type 43 is a rare autosomal dominant cerebellar ataxia type I disorder characterized by late adult-onset of slowly progressive cerebellar ataxia, typically presenting with balance and gait disturbances, in association with axonal peripheral neuropathy resulting in reduced/absent deep tendon reflexes and sensory impairment. Lower limb pain and amyotrophy may be present, as well as various cerebellar signs, including dysarthria, nystagmus, hypometric saccades and tremor." [Orphanet:497764] +synonym: "autosomal dominant cerebellar ataxia caused by mutation in MME" EXACT [MONDO:design_pattern] +synonym: "MME autosomal dominant cerebellar ataxia" EXACT [MONDO:design_pattern] synonym: "SCA43" EXACT [OMIM:617018] synonym: "spinocerebellar ataxia 43" EXACT [OMIM:617018] synonym: "spinocerebellar ataxia type 43" EXACT [MONDORULE:2, OMIM:617018] @@ -289087,7 +294148,7 @@ xref: EFO:0009060 {source="MONDO:equivalentTo"} xref: OMIM:617018 {source="MONDO:equivalentTo"} xref: Orphanet:497764 {source="MONDO:equivalentTo"} xref: UMLS:C4310763 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0020380 {source="DC-OMIM:617018", source="Orphanet:497764/inferred"} ! autosomal dominant cerebellar ataxia +is_a: MONDO:0020380 {source="DC-OMIM:617018", source="EFO:0009060/inferred", source="OMIM:617018", source="Orphanet:497764/inferred"} ! autosomal dominant cerebellar ataxia intersection_of: MONDO:0020380 ! autosomal dominant cerebellar ataxia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7154 ! MME relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7154 {source="mim2gene_medgen"} ! MME @@ -289096,6 +294157,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/71 id: MONDO:0014868 name: epileptic encephalopathy, early infantile, 38; EIEE38 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the ARV1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ARV1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] +synonym: "early infantile epileptic encephalopathy caused by mutation in ARV1" EXACT [MONDO:design_pattern] synonym: "EIEE38" EXACT [OMIM:617020] synonym: "epileptic encephalopathy, early infantile, 38" EXACT [OMIM:617020] synonym: "epileptic encephalopathy, early infantile, type 38" EXACT [MONDORULE:2, OMIM:617020] @@ -289142,8 +294205,10 @@ property_value: confidence "8.333333333333334" xsd:double id: MONDO:0014871 name: retinitis pigmentosa 75 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the AGBL5 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AGBL5 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 75" EXACT [OMIM:617023] synonym: "retinitis pigmentosa 75; RP75" RELATED [OMIM:617023] +synonym: "retinitis pigmentosa caused by mutation in AGBL5" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 75" EXACT [DOID:0110361, MONDORULE:2, OMIM:617023] synonym: "RP75" EXACT [DOID:0110361, OMIM:617023] xref: DOID:0110361 {source="MONDO:equivalentTo"} @@ -289159,8 +294224,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26 id: MONDO:0014872 name: congenital stationary night blindness 1H def: "Any congenital stationary night blindness in which the cause of the disease is a mutation in the GNB3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "congenital stationary night blindness caused by mutation in GNB3" EXACT [MONDO:design_pattern] synonym: "congenital stationary night blindness type 1H" EXACT [DOID:0110866, MONDORULE:4] synonym: "CSNB1H" EXACT [DOID:0110866, OMIM:617024] +synonym: "GNB3 congenital stationary night blindness" EXACT [MONDO:design_pattern] synonym: "night blindness, congenital stationary, type 1H" EXACT [OMIM:617024] synonym: "night blindness, congenital stationary, type 1H; CSNB1H" RELATED [OMIM:617024] xref: DOID:0110866 {source="MONDO:equivalentTo"} @@ -289199,8 +294266,10 @@ property_value: confidence "3.0625" xsd:double id: MONDO:0014874 name: pontocerebellar hypoplasia, type 2F; PCH2F def: "Any non-syndromic pontocerebellar hypoplasia in which the cause of the disease is a mutation in the TSEN15 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "non-syndromic pontocerebellar hypoplasia caused by mutation in TSEN15" EXACT [MONDO:design_pattern] synonym: "PCH2F" EXACT [OMIM:617026] synonym: "pontocerebellar hypoplasia, type 2F" EXACT [OMIM:617026] +synonym: "TSEN15 non-syndromic pontocerebellar hypoplasia" EXACT [MONDO:design_pattern] xref: OMIM:617026 {source="MONDO:equivalentTo"} xref: UMLS:C4310757 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016759 {source="MONDOLEX:0014874", source="ORDO:2524/btnt"} ! pontocerebellar hypoplasia type 2 @@ -289227,10 +294296,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/13 id: MONDO:0014876 name: intellectual disability, autosomal recessive 54; MRT54 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the TNIK gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in TNIK" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 54" EXACT [OMIM:617028] synonym: "mental retardation, autosomal recessive 54; MRT54" RELATED [OMIM:617028] synonym: "mental retardation, autosomal recessive type 54" EXACT [MONDORULE:2, OMIM:617028] synonym: "MRT54" EXACT [OMIM:617028] +synonym: "TNIK autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] xref: OMIM:617028 {source="MONDO:equivalentTo"} xref: UMLS:C4310755 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019502 {source="DC-OMIM:617028", source="OMIM:617028"} ! autosomal recessive non-syndromic intellectual disability @@ -289243,6 +294314,8 @@ property_value: confidence "2.6923076923076916" xsd:double id: MONDO:0014877 name: myopathy, distal, 5; MPD5 def: "Any distal myopathy in which the cause of the disease is a mutation in the ADSSL1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ADSSL1 distal myopathy" EXACT [MONDO:design_pattern] +synonym: "distal myopathy caused by mutation in ADSSL1" EXACT [MONDO:design_pattern] synonym: "MPD5" RELATED [OMIM:617030] synonym: "Myopathy, distal, 5" EXACT [OMIM:617030] synonym: "Myopathy, distal, type 5" EXACT [MONDORULE:1, OMIM:617030] @@ -289279,8 +294352,10 @@ subset: gard_rare synonym: "Duane retraction syndrome 3" RELATED [GARD:0010691] synonym: "Duane retraction syndrome 3 with or without deafness" EXACT [OMIM:617041] synonym: "Duane retraction syndrome 3 with OR without deafness; DURS3" RELATED [OMIM:617041] +synonym: "Duane retraction syndrome caused by mutation in MAFB" EXACT [MONDO:design_pattern] synonym: "Duane syndrome type 3" RELATED [GARD:0010691] synonym: "DURS3" EXACT [MONDO:cjm, OMIM:617041] +synonym: "MAFB Duane retraction syndrome" EXACT [MONDO:design_pattern] xref: GARD:0010691 {source="MONDO:equivalentTo"} xref: OMIM:126800 {source="GARD:0010691", source="MONDO:directSiblingOf"} xref: OMIM:617041 {source="MONDO:equivalentTo"} @@ -289320,6 +294395,8 @@ def: "Autosomal recessive spastic paraplegia type 77 is a rare, pure or complex subset: ordo_disease {source="Orphanet:466722"} synonym: "autosomal recessive spastic paraplegia 77" EXACT [DOID:0110822] synonym: "autosomal recessive spastic paraplegia type 77" RELATED [Orphanet:466722] +synonym: "FARS2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] +synonym: "hereditary spastic paraplegia caused by mutation in FARS2" EXACT [MONDO:design_pattern] synonym: "hereditary spastic paraplegia type 77" EXACT [DOID:0110822, MONDORULE:2] synonym: "spastic paraplegia 77, autosomal recessive" EXACT [OMIM:617046] synonym: "spastic paraplegia 77, autosomal recessive; SPG77" RELATED [OMIM:617046] @@ -289346,6 +294423,8 @@ synonym: "cardiomyopathy, familial hypertrophic, 26; CMH26" RELATED [OMIM:617047 synonym: "cardiomyopathy, familial hypertrophic, type 26" EXACT [MONDORULE:2, OMIM:617047] synonym: "cardiomyopathy, familial restrictive, 5" RELATED [OMIM:617047] synonym: "CMH26" EXACT [DOID:0110327, OMIM:617047] +synonym: "FLNC hypertrophic cardiomyopathy" EXACT [MONDO:design_pattern] +synonym: "hypertrophic cardiomyopathy caused by mutation in FLNC" EXACT [MONDO:design_pattern] synonym: "hypertrophic cardiomyopathy type 26" EXACT [DOID:0110327, MONDORULE:2] xref: DOID:0110327 {source="MONDO:equivalentTo"} xref: OMIM:617047 {source="DOID:0110327", source="MONDO:equivalentTo"} @@ -289362,7 +294441,9 @@ name: cholestasis, progressive familial intrahepatic, 5; PFIC5 def: "Any progressive familial intrahepatic cholestasis in which the cause of the disease is a mutation in the NR1H4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cholestasis, progressive familial intrahepatic, 5" EXACT [OMIM:617049] synonym: "cholestasis, progressive familial intrahepatic, type 5" EXACT [MONDORULE:1, OMIM:617049] +synonym: "NR1H4 progressive familial intrahepatic cholestasis" EXACT [MONDO:design_pattern] synonym: "PFIC5" EXACT [OMIM:617049] +synonym: "progressive familial intrahepatic cholestasis caused by mutation in NR1H4" EXACT [MONDO:design_pattern] xref: OMIM:617049 {source="MONDO:equivalentTo"} xref: UMLS:C4310747 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0001751 {source="DC-OMIM:617049", source="MONDO:Redundant"} ! cholestasis @@ -289375,7 +294456,9 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/79 id: MONDO:0014885 name: Hermansky-Pudlak syndrome 10; HPS10 def: "Any Hermansky-Pudlak syndrome in which the cause of the disease is a mutation in the AP3D1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AP3D1 Hermansky-Pudlak syndrome" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome 10" EXACT [OMIM:617050] +synonym: "Hermansky-Pudlak syndrome caused by mutation in AP3D1" EXACT [MONDO:design_pattern] synonym: "Hermansky-Pudlak syndrome type 10" EXACT [MONDORULE:2, OMIM:617050] synonym: "HPS10" EXACT [OMIM:617050] xref: OMIM:617050 {source="MONDO:equivalentTo"} @@ -289409,7 +294492,9 @@ name: bone marrow failure syndrome 3; BMFS3 def: "Any bone marrow failure syndrome in which the cause of the disease is a mutation in the DNAJC21 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BMFS3" EXACT [OMIM:617052] synonym: "bone marrow failure syndrome 3" EXACT [OMIM:617052] +synonym: "bone marrow failure syndrome caused by mutation in DNAJC21" EXACT [MONDO:design_pattern] synonym: "bone marrow failure syndrome type 3" EXACT [MONDORULE:1, OMIM:617052] +synonym: "DNAJC21 bone marrow failure syndrome" EXACT [MONDO:design_pattern] xref: OMIM:617052 {source="MONDO:equivalentTo"} xref: UMLS:C4310744 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000159 {source="DC-OMIM:617052", source="OMIM:617052"} ! bone marrow failure syndrome @@ -289462,9 +294547,11 @@ name: cold-induced sweating syndrome 3 def: "Any cold-induced sweating syndrome in which the cause of the disease is a mutation in the KLHL7 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CISS3" EXACT [OMIM:617055] synonym: "cold-induced sweating syndrome 3" EXACT [OMIM:617055] +synonym: "cold-induced sweating syndrome caused by mutation in KLHL7" EXACT [MONDO:design_pattern] synonym: "cold-induced sweating syndrome type 3" EXACT [MONDORULE:1, OMIM:617055] synonym: "Crisponi/cold-induced sweating syndrome 3" RELATED [OMIM:617055] synonym: "CRISPONI/cold-induced sweating syndrome 3; CISS3" RELATED [OMIM:617055] +synonym: "KLHL7 cold-induced sweating syndrome" EXACT [MONDO:design_pattern] xref: OMIM:617055 {source="MONDO:equivalentTo"} xref: UMLS:C4310742 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015526 {source="DC-OMIM:617055", source="OMIM:617055"} ! cold-induced sweating syndrome @@ -289477,10 +294564,12 @@ property_value: confidence "4.999999999999999" xsd:double id: MONDO:0014891 name: hyperuricemic nephropathy, familial juvenile type 4 def: "Any familial juvenile hyperuricemic nephropathy in which the cause of the disease is a mutation in the SEC61A1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial juvenile hyperuricemic nephropathy caused by mutation in SEC61A1" EXACT [MONDO:design_pattern] synonym: "HNFJ4" EXACT [OMIM:617056] synonym: "hyperuricemic nephropathy, familial juvenile, 4" EXACT [OMIM:617056] synonym: "hyperuricemic NEPHROPATHY, familial juvenile, 4; HNFJ4" RELATED [OMIM:617056] synonym: "hyperuricemic nephropathy, familial juvenile, type 4" EXACT [MONDORULE:1, OMIM:617056] +synonym: "SEC61A1 familial juvenile hyperuricemic nephropathy" EXACT [MONDO:design_pattern] xref: OMIM:617056 {source="MONDO:equivalentTo"} xref: UMLS:C4310741 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000608 {source="DC-OMIM:617056", source="OMIM:617056"} ! familial juvenile hyperuricemic nephropathy @@ -289526,7 +294615,9 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/24 id: MONDO:0014894 name: Meier-Gorlin syndrome 7; MGORS7 def: "Any Meier-Gorlin syndrome in which the cause of the disease is a mutation in the CDC45 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CDC45 Meier-Gorlin syndrome" EXACT [MONDO:design_pattern] synonym: "Meier-Gorlin syndrome 7" EXACT [OMIM:617063] +synonym: "Meier-Gorlin syndrome caused by mutation in CDC45" EXACT [MONDO:design_pattern] synonym: "Meier-Gorlin syndrome type 7" EXACT [MONDORULE:1, OMIM:617063] synonym: "MGORS7" EXACT [OMIM:617063] xref: OMIM:617063 {source="MONDO:equivalentTo"} @@ -289541,9 +294632,11 @@ property_value: confidence "4.714285714285715" xsd:double id: MONDO:0014895 name: epileptic encephalopathy, early infantile, 40; EIEE40 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GUF1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in GUF1" EXACT [MONDO:design_pattern] synonym: "EIEE40" EXACT [OMIM:617065] synonym: "epileptic encephalopathy, early infantile, 40" EXACT [OMIM:617065] synonym: "epileptic encephalopathy, early infantile, type 40" EXACT [MONDORULE:2, OMIM:617065] +synonym: "GUF1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:617065 {source="MONDO:equivalentTo"} xref: UMLS:C4310737 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:617065", source="OMIM:617065"} ! early infantile epileptic encephalopathy @@ -289582,10 +294675,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28 id: MONDO:0014898 name: progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3; PEOB3 def: "Any autosomal recessive progressive external ophthalmoplegia in which the cause of the disease is a mutation in the TK2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive progressive external ophthalmoplegia caused by mutation in TK2" EXACT [MONDO:design_pattern] synonym: "PEOB3" EXACT [OMIM:617069] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive 3" EXACT [OMIM:617069] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal recessive type 3" EXACT [MONDORULE:1, OMIM:617069] synonym: "progressive external ophthalmoplegia, autosomal recessive 3" RELATED [OMIM:617069] +synonym: "TK2 autosomal recessive progressive external ophthalmoplegia" EXACT [MONDO:design_pattern] xref: OMIM:617069 {source="MONDO:equivalentTo"} xref: UMLS:C4310734 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000090 {source="DC-OMIM:617069", source="MONDOLEX:0014898", source="OMIM:617069"} ! progressive external ophthalmoplegia with mitochondrial DNA deletions @@ -289620,6 +294715,7 @@ id: MONDO:0014900 name: autosomal recessive limb-girdle muscular dystrophy type 2Y def: "Autosomal recessive limb-girdle muscular dystrophy type 2Y (LGMD2Y) is a form of limb-girdle muscular dystrophy, presenting in the first or second decades of life, characterized by slowly progressive proximal and distal muscle weakness and atrophy. Additional manifestations include contractures of the proximal and distal interphalangeal hand joints, rigid spine, restricted pulmonary function, and mild cardiomyopathy." [Orphanet:424261] subset: ordo_disease {source="Orphanet:424261"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in TOR1AIP1" EXACT [MONDO:design_pattern] synonym: "autosomal recessive muscular dystrophy due to LAP1B deficiency" EXACT [DOID:0110289, Orphanet:424261] synonym: "autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency" EXACT [DOID:0110289, Orphanet:424261] synonym: "LGMD2Y" EXACT [DOID:0110289, OMIM:617072, Orphanet:424261] @@ -289627,6 +294723,7 @@ synonym: "muscular dystrophy with progressive weakness, distal contractures and synonym: "muscular dystrophy, limb-girdle, type 2Y" EXACT [DOID:0110289] synonym: "muscular dystrophy, limb-girdle, type 2y" EXACT [OMIM:617072] synonym: "muscular dystrophy, limb-girdle, type 2Y; LGMD2Y" RELATED [OMIM:617072] +synonym: "TOR1AIP1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: DOID:0110289 {source="MONDO:equivalentTo"} xref: ICD10:G71.0 {source="ORDO:424261/attributed", source="DOID:0110289", source="MONDO:subClassOf", source="ORDO:424261/ntbt", source="Orphanet:424261"} xref: OMIM:617072 {source="DOID:0110289", source="ORDO:424261/e", source="Orphanet:424261", source="MONDO:equivalentTo"} @@ -289644,8 +294741,10 @@ id: MONDO:0014901 name: tooth agenesis, selective, 8; STHAG8 def: "Any tooth agenesis in which the cause of the disease is a mutation in the WNT10B gene." [MONDO:patterns/disease_series_by_gene] synonym: "STHAG8" EXACT [OMIM:617073] +synonym: "tooth agenesis caused by mutation in WNT10B" EXACT [MONDO:design_pattern] synonym: "Tooth agenesis, selective, 8" EXACT [OMIM:617073] synonym: "Tooth agenesis, selective, type 8" EXACT [MONDORULE:1, OMIM:617073] +synonym: "WNT10B tooth agenesis" EXACT [MONDO:design_pattern] xref: OMIM:617073 {source="MONDO:equivalentTo"} xref: UMLS:C4310730 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease @@ -289659,6 +294758,8 @@ property_value: confidence "3.0" xsd:double id: MONDO:0014902 name: nasopharyngeal carcinoma, susceptibility to, 3; NPCA3 def: "Any nasopharyngeal carcinoma in which the cause of the disease is a mutation in the MST1R gene." [MONDO:patterns/disease_series_by_gene] +synonym: "MST1R nasopharyngeal carcinoma" EXACT [MONDO:design_pattern] +synonym: "nasopharyngeal carcinoma caused by mutation in MST1R" EXACT [MONDO:design_pattern] synonym: "nasopharyngeal carcinoma, susceptibility to, 3" EXACT [OMIM:617075] synonym: "nasopharyngeal carcinoma, susceptibility to, type 3" EXACT [MONDORULE:1, OMIM:617075] synonym: "NPCA3" EXACT [OMIM:617075] @@ -289675,8 +294776,10 @@ property_value: confidence "0.20002181857851986" xsd:double id: MONDO:0014903 name: seizures, benign familial infantile, 5; BFIS5 def: "Any benign familial infantile epilepsy in which the cause of the disease is a mutation in the SCN8A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "benign familial infantile epilepsy caused by mutation in SCN8A" EXACT [MONDO:design_pattern] synonym: "BFIS5" EXACT [OMIM:617080] synonym: "convulsions, benign familial infantile, 5" RELATED [OMIM:617080] +synonym: "SCN8A benign familial infantile epilepsy" EXACT [MONDO:design_pattern] synonym: "seizures, benign familial infantile, 5" EXACT [OMIM:617080] synonym: "seizures, benign familial infantile, type 5" EXACT [MONDORULE:1, OMIM:617080] xref: OMIM:617080 {source="MONDO:equivalentTo"} @@ -289728,7 +294831,7 @@ synonym: "CMT2A2B" RELATED [OMIM:617087] xref: NCIT:C150647 {source="MONDO:equivalentTo"} xref: OMIM:617087 {source="MONDO:equivalentTo"} xref: UMLS:C4310725 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="DC-OMIM:617087", source="OMIM:617087"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DC-OMIM:617087", source="NCIT:C150647/inferred", source="OMIM:617087"} ! Charcot-Marie-tooth disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16877 {source="mim2gene_medgen"} ! MFN2 [Term] @@ -289746,6 +294849,8 @@ property_value: confidence "0.7173913043478257" xsd:double id: MONDO:0014908 name: microcephaly 17, primary, autosomal recessive; MCPH17 def: "Any autosomal recessive primary microcephaly in which the cause of the disease is a mutation in the CIT gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive primary microcephaly caused by mutation in CIT" EXACT [MONDO:design_pattern] +synonym: "CIT autosomal recessive primary microcephaly" EXACT [MONDO:design_pattern] synonym: "MCPH17" EXACT [OMIM:617090] synonym: "microcephaly 17, primary, autosomal recessive" EXACT [OMIM:617090] xref: OMIM:617090 {source="MONDO:equivalentTo"} @@ -289765,7 +294870,9 @@ synonym: "ciliary dyskinesia, primary, 34" EXACT [OMIM:617091] synonym: "ciliary dyskinesia, primary, 34, without situs inversus" RELATED [OMIM:617091] synonym: "ciliary dyskinesia, primary, 34; CILD34" RELATED [OMIM:617091] synonym: "ciliary dyskinesia, primary, type 34" EXACT [MONDORULE:2, OMIM:617091] +synonym: "DNAJB13 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia 34 without situs inversus" EXACT [DOID:0110610] +synonym: "primary ciliary dyskinesia caused by mutation in DNAJB13" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 34" EXACT [DOID:0110610, MONDORULE:2] xref: DOID:0110610 {source="MONDO:equivalentTo"} xref: OMIM:617091 {source="DOID:0110610", source="MONDO:equivalentTo"} @@ -289785,7 +294892,9 @@ synonym: "ciliary dyskinesia, primary, 35, with or without situs inversus" RELAT synonym: "ciliary dyskinesia, primary, 35; CILD35" RELATED [OMIM:617092] synonym: "ciliary dyskinesia, primary, type 35" EXACT [MONDORULE:2, OMIM:617092] synonym: "primary ciliary dyskinesia 35 with or without situs inversus" EXACT [DOID:0110620] +synonym: "primary ciliary dyskinesia caused by mutation in TTC25" EXACT [MONDO:design_pattern] synonym: "primary ciliary dyskinesia type 35" EXACT [DOID:0110620, MONDORULE:2] +synonym: "TTC25 primary ciliary dyskinesia" EXACT [MONDO:design_pattern] xref: DOID:0110620 {source="MONDO:equivalentTo"} xref: OMIM:617092 {source="DOID:0110620", source="MONDO:equivalentTo"} xref: UMLS:C4310721 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -289803,7 +294912,7 @@ synonym: "Growth retardation, intellectual developmental disorder, hypotonia, an xref: EFO:0009155 {source="MONDO:equivalentTo"} xref: OMIM:617093 {source="MONDO:equivalentTo"} xref: UMLS:C4310720 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0003847 {source="EFO:0009155"} ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/5330 {source="mim2gene_medgen"} ! IARS [Term] @@ -289867,9 +294976,11 @@ property_value: confidence "2.47142857142857" xsd:double id: MONDO:0014916 name: epileptic encephalopathy, early infantile, 41; EIEE41 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the SLC1A2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in SLC1A2" EXACT [MONDO:design_pattern] synonym: "EIEE41" EXACT [OMIM:617105] synonym: "epileptic encephalopathy, early infantile, 41" EXACT [OMIM:617105] synonym: "epileptic encephalopathy, early infantile, type 41" EXACT [MONDORULE:2, OMIM:617105] +synonym: "SLC1A2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:617105 {source="MONDO:equivalentTo"} xref: UMLS:C4310717 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:617105", source="OMIM:617105"} ! early infantile epileptic encephalopathy @@ -289884,6 +294995,8 @@ property_value: confidence "6.200000000000001" xsd:double id: MONDO:0014917 name: epileptic encephalopathy, early infantile, 42; EIEE42 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the CACNA1A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CACNA1A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] +synonym: "early infantile epileptic encephalopathy caused by mutation in CACNA1A" EXACT [MONDO:design_pattern] synonym: "EIEE42" EXACT [OMIM:617106] synonym: "epileptic encephalopathy, early infantile, 42" EXACT [OMIM:617106] synonym: "epileptic encephalopathy, early infantile, type 42" EXACT [MONDORULE:2, OMIM:617106] @@ -289932,9 +295045,11 @@ subset: ordo_disease {source="Orphanet:466718"} synonym: "macular dystrophy, patterned, 3" EXACT [OMIM:617111] synonym: "macular dystrophy, patterned, 3; MDPT3" RELATED [OMIM:617111] synonym: "macular dystrophy, patterned, type 3" EXACT [MONDORULE:1, OMIM:617111] +synonym: "MAPKAPK3 patterned macular dystrophy" EXACT [MONDO:design_pattern] synonym: "Martinique crinkled retinal pigment epitheliopathy" EXACT [DOID:0060865] synonym: "MCRPE" EXACT [Orphanet:466718] synonym: "MDPT3" EXACT [DOID:0060865, OMIM:617111] +synonym: "patterned macular dystrophy caused by mutation in MAPKAPK3" EXACT [MONDO:design_pattern] synonym: "patterned macular dystrophy type 3" EXACT [DOID:0060865, MONDORULE:1] xref: DOID:0060865 {source="MONDO:equivalentTo"} xref: ICD10:H35.5 {source="Orphanet:466718", source="MONDO:relatedTo", source="ORDO:466718/attributed", source="ORDO:466718/ntbt"} @@ -289951,9 +295066,11 @@ property_value: confidence "0.9166666666666667" xsd:double id: MONDO:0014921 name: epileptic encephalopathy, early infantile, 43; EIEE43 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in GABRB3" EXACT [MONDO:design_pattern] synonym: "EIEE43" EXACT [OMIM:617113] synonym: "epileptic encephalopathy, early infantile, 43" EXACT [OMIM:617113] synonym: "epileptic encephalopathy, early infantile, type 43" EXACT [MONDORULE:2, OMIM:617113] +synonym: "GABRB3 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:617113 {source="MONDO:equivalentTo"} xref: UMLS:C4310712 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:617113", source="OMIM:617113"} ! early infantile epileptic encephalopathy @@ -289967,6 +295084,7 @@ property_value: confidence "6.200000000000001" xsd:double id: MONDO:0014922 name: myofibrillar myopathy 7 def: "Any myofibrillar myopathy in which the cause of the disease is a mutation in the KY gene." [MONDO:patterns/disease_series_by_gene] +synonym: "alpha-b crystalin-related fatal infantile hypertonic myofibrillar myopathy" EXACT [DOID:0080098] synonym: "MFM7" RELATED [OMIM:617114] synonym: "Myopathy, myofibrillar, 7" EXACT [OMIM:617114] synonym: "MYOPATHY, myofibrillar, 7; MFM7" RELATED [OMIM:617114] @@ -289984,8 +295102,10 @@ id: MONDO:0014923 name: peeling skin syndrome 5; PSS5 def: "Any peeling skin syndrome in which the cause of the disease is a mutation in the SERPINB8 gene." [MONDO:patterns/disease_series_by_gene] synonym: "peeling skin syndrome 5" EXACT [OMIM:617115] +synonym: "peeling skin syndrome caused by mutation in SERPINB8" EXACT [MONDO:design_pattern] synonym: "peeling skin syndrome type 5" EXACT [MONDORULE:1, OMIM:617115] synonym: "PSS5" RELATED [OMIM:617115] +synonym: "SERPINB8 peeling skin syndrome" EXACT [MONDO:design_pattern] xref: OMIM:617115 {source="MONDO:equivalentTo"} xref: UMLS:C4310710 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0017339 {source="ORDO:289586/btnt"} ! exfoliative ichthyosis @@ -290000,8 +295120,10 @@ id: MONDO:0014924 name: epilepsy, familial focal, with variable foci 2; FFEVF2 def: "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "epilepsy, familial focal, with variable foci 2" EXACT [OMIM:617116] +synonym: "epilepsy, familial focal, with variable foci caused by mutation in NPRL2" EXACT [MONDO:design_pattern] synonym: "epilepsy, familial focal, with variable foci type 2" EXACT [MONDORULE:1, OMIM:617116] synonym: "FFEVF2" EXACT [OMIM:617116] +synonym: "NPRL2 epilepsy, familial focal, with variable foci" EXACT [MONDO:design_pattern] xref: OMIM:617116 {source="MONDO:equivalentTo"} xref: UMLS:C4310709 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000215 {source="DC-OMIM:617116", source="MONDOLEX:0014924", source="OMIM:617116"} ! epilepsy, familial focal, with variable foci @@ -290015,8 +295137,10 @@ id: MONDO:0014925 name: epilepsy, familial focal, with variable foci 3; FFEVF3 def: "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the NPRL3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "epilepsy, familial focal, with variable foci 3" EXACT [OMIM:617118] +synonym: "epilepsy, familial focal, with variable foci caused by mutation in NPRL3" EXACT [MONDO:design_pattern] synonym: "epilepsy, familial focal, with variable foci type 3" EXACT [MONDORULE:1, OMIM:617118] synonym: "FFEVF3" EXACT [OMIM:617118] +synonym: "NPRL3 epilepsy, familial focal, with variable foci" EXACT [MONDO:design_pattern] xref: OMIM:617118 {source="MONDO:equivalentTo"} xref: UMLS:C4310708 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0000215 {source="DC-OMIM:617118", source="MONDOLEX:0014925", source="OMIM:617118"} ! epilepsy, familial focal, with variable foci @@ -290030,8 +295154,10 @@ id: MONDO:0014926 name: Bardet-Biedl syndrome 20; BBS20 def: "Any Bardet-Biedl syndrome in which the cause of the disease is a mutation in the IFT74 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Bardet-Biedl syndrome 20" EXACT [OMIM:617119] +synonym: "Bardet-Biedl syndrome caused by mutation in IFT74" EXACT [MONDO:design_pattern] synonym: "Bardet-Biedl syndrome type 20" EXACT [MONDORULE:2, OMIM:617119] synonym: "BBS20" EXACT [OMIM:617119] +synonym: "IFT74 Bardet-Biedl syndrome" EXACT [MONDO:design_pattern] xref: OMIM:617119 {source="MONDO:equivalentTo"} xref: UMLS:C4310707 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015229 {source="DC-OMIM:617119", source="OMIM:617119"} ! Bardet-Biedl syndrome @@ -290043,9 +295169,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/21 id: MONDO:0014927 name: Joubert syndrome 27 def: "Any Joubert syndrome in which the cause of the disease is a mutation in the B9D1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "B9D1 Joubert syndrome" EXACT [MONDO:design_pattern] synonym: "JBTS27" EXACT [DOID:0110996, OMIM:617120] synonym: "Joubert syndrome 27" EXACT [OMIM:617120] synonym: "Joubert syndrome 27; JBTS27" RELATED [OMIM:617120] +synonym: "Joubert syndrome caused by mutation in B9D1" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 27" EXACT [DOID:0110996, MONDORULE:2, OMIM:617120] xref: DOID:0110996 {source="MONDO:equivalentTo"} xref: OMIM:617120 {source="DOID:0110996", source="MONDO:equivalentTo"} @@ -290062,7 +295190,9 @@ def: "Any Joubert syndrome in which the cause of the disease is a mutation in th synonym: "JBTS28" EXACT [DOID:0110997, OMIM:617121] synonym: "Joubert syndrome 28" EXACT [OMIM:617121] synonym: "Joubert syndrome 28; JBTS28" RELATED [OMIM:617121] +synonym: "Joubert syndrome caused by mutation in MKS1" EXACT [MONDO:design_pattern] synonym: "Joubert syndrome type 28" EXACT [DOID:0110997, MONDORULE:2, OMIM:617121] +synonym: "MKS1 Joubert syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110997 {source="MONDO:equivalentTo"} xref: OMIM:617121 {source="DOID:0110997", source="MONDO:equivalentTo"} xref: UMLS:C4310705 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -290077,7 +295207,9 @@ property_value: confidence "0.7367352941176466" xsd:double id: MONDO:0014929 name: retinitis pigmentosa 76; RP76 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the POMGNT1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "POMGNT1 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 76" EXACT [OMIM:617123] +synonym: "retinitis pigmentosa caused by mutation in POMGNT1" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 76" EXACT [MONDORULE:2, OMIM:617123] synonym: "RP76" RELATED [OMIM:617123] xref: OMIM:617123 {source="MONDO:equivalentTo"} @@ -290091,10 +295223,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19 id: MONDO:0014930 name: intellectual disability, autosomal recessive 56; MRT56 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ZC3H14 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in ZC3H14" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 56" EXACT [OMIM:617125] synonym: "mental retardation, autosomal recessive 56; MRT56" RELATED [OMIM:617125] synonym: "mental retardation, autosomal recessive type 56" EXACT [MONDORULE:2, OMIM:617125] synonym: "MRT56" EXACT [OMIM:617125] +synonym: "ZC3H14 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] xref: OMIM:617125 {source="MONDO:equivalentTo"} xref: UMLS:C4310703 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019502 {source="DC-OMIM:617125", source="OMIM:617125"} ! autosomal recessive non-syndromic intellectual disability @@ -290133,9 +295267,11 @@ property_value: confidence "0.5677052714089748" xsd:double id: MONDO:0014933 name: epileptic encephalopathy, early infantile, 44; EIEE44 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the UBA5 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in UBA5" EXACT [MONDO:design_pattern] synonym: "EIEE44" EXACT [OMIM:617132] synonym: "epileptic encephalopathy, early infantile, 44" EXACT [OMIM:617132] synonym: "epileptic encephalopathy, early infantile, type 44" EXACT [MONDORULE:2, OMIM:617132] +synonym: "UBA5 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:617132 {source="MONDO:equivalentTo"} xref: UMLS:C4310700 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:617132", source="OMIM:617132"} ! early infantile epileptic encephalopathy @@ -290149,9 +295285,11 @@ property_value: confidence "6.200000000000001" xsd:double id: MONDO:0014934 name: spinocerebellar ataxia, autosomal recessive 24; SCAR24 def: "Any autosomal dominant cerebellar ataxia in which the cause of the disease is a mutation in the UBA5 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant cerebellar ataxia caused by mutation in UBA5" EXACT [MONDO:design_pattern] synonym: "SCAR24" EXACT [OMIM:617133] synonym: "spinocerebellar ataxia, autosomal recessive 24" EXACT [OMIM:617133] synonym: "spinocerebellar ataxia, autosomal recessive type 24" EXACT [MONDORULE:2, OMIM:617133] +synonym: "UBA5 autosomal dominant cerebellar ataxia" EXACT [MONDO:design_pattern] xref: OMIM:617133 {source="MONDO:equivalentTo"} xref: UMLS:C4310699 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0020380 {source="DC-OMIM:617133"} ! autosomal dominant cerebellar ataxia @@ -290165,7 +295303,9 @@ name: frontometaphyseal dysplasia 2; FMD2 def: "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the MAP3K7 gene." [MONDO:patterns/disease_series_by_gene] synonym: "FMD2" RELATED [OMIM:617137] synonym: "Frontometaphyseal dysplasia 2" EXACT [OMIM:617137] +synonym: "frontometaphyseal dysplasia caused by mutation in MAP3K7" EXACT [MONDO:design_pattern] synonym: "Frontometaphyseal dysplasia type 2" EXACT [MONDORULE:1, OMIM:617137] +synonym: "MAP3K7 frontometaphyseal dysplasia" EXACT [MONDO:design_pattern] xref: OMIM:617137 {source="MONDO:equivalentTo"} xref: UMLS:C4310697 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0015942 {source="DC-OMIM:617137", source="OMIM:617137"} ! frontometaphyseal dysplasia @@ -290216,6 +295356,8 @@ def: "Any isolated aniridia in which the cause of the disease is a mutation in t synonym: "AN3" RELATED [OMIM:617142] synonym: "aniridia 3" EXACT [OMIM:617142] synonym: "aniridia type 3" EXACT [MONDORULE:1, OMIM:617142] +synonym: "isolated aniridia caused by mutation in TRIM44" EXACT [MONDO:design_pattern] +synonym: "TRIM44 isolated aniridia" EXACT [MONDO:design_pattern] xref: OMIM:617142 {source="MONDO:equivalentTo"} xref: UMLS:C4310695 {source="NCBI:mim2gene_medline"} is_a: MONDO:0007119 {source="OMIM:617142", source="ORDO:250923/btnt"} ! isolated aniridia @@ -290230,13 +295372,15 @@ name: congenital myasthenic syndrome 20 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC5A7 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CMS20" EXACT [DOID:0110661, OMIM:617143] synonym: "congenital myasthenic syndrome 20 presynaptic" EXACT [DOID:0110661] +synonym: "congenital myasthenic syndrome caused by mutation in SLC5A7" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 20" EXACT [DOID:0110661, MONDORULE:2] synonym: "myasthenic syndrome, congenital, 20, presynaptic" EXACT [OMIM:617143] synonym: "myasthenic syndrome, congenital, 20, presynaptic; CMS20" RELATED [OMIM:617143] +synonym: "SLC5A7 congenital myasthenic syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110661 {source="MONDO:equivalentTo"} xref: OMIM:617143 {source="DOID:0110661", source="MONDO:equivalentTo"} xref: UMLS:C4310694 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:617143"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110661", source="MONDO:Redundant", source="OMIM:617143"} ! congenital myasthenic syndrome is_a: MONDO:0020345 {source="ORDO:98914/btnt"} ! presynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14025 ! SLC5A7 @@ -290267,9 +295411,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26 id: MONDO:0014942 name: epileptic encephalopathy, early infantile, 45; EIEE45 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GABRB1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in GABRB1" EXACT [MONDO:design_pattern] synonym: "EIEE45" EXACT [OMIM:617153] synonym: "epileptic encephalopathy, early infantile, 45" EXACT [OMIM:617153] synonym: "epileptic encephalopathy, early infantile, type 45" EXACT [MONDORULE:2, OMIM:617153] +synonym: "GABRB1 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:617153 {source="MONDO:equivalentTo"} xref: UMLS:C4310691 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:617153", source="OMIM:617153"} ! early infantile epileptic encephalopathy @@ -290285,7 +295431,9 @@ name: mitochondrial DNA depletion syndrome 15 (hepatocerebral type); def: "Any mitochondrial DNA depletion syndrome in which the cause of the disease is a mutation in the TFAM gene." [MONDO:patterns/disease_series_by_gene] synonym: "mitochondrial DNA depletion syndrome 15 (hepatocerebral type)" RELATED [OMIM:617156] synonym: "mitochondrial DNA depletion syndrome 15 (hepatocerebral type); MTDPS15" RELATED [OMIM:617156] +synonym: "mitochondrial DNA depletion syndrome caused by mutation in TFAM" EXACT [MONDO:design_pattern] synonym: "MTDPS15" RELATED [OMIM:617156] +synonym: "TFAM mitochondrial DNA depletion syndrome" EXACT [MONDO:design_pattern] xref: OMIM:617156 {source="MONDO:equivalentTo"} xref: UMLS:C4310690 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018158 {source="DC-OMIM:617156", source="OMIM:617156"} ! mitochondrial DNA depletion syndrome @@ -290337,9 +295485,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19 id: MONDO:0014947 name: epileptic encephalopathy, early infantile, 46; EIEE46 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the GRIN2D gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in GRIN2D" EXACT [MONDO:design_pattern] synonym: "EIEE46" EXACT [OMIM:617162] synonym: "epileptic encephalopathy, early infantile, 46" EXACT [OMIM:617162] synonym: "epileptic encephalopathy, early infantile, type 46" EXACT [MONDORULE:2, OMIM:617162] +synonym: "GRIN2D early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:617162 {source="MONDO:equivalentTo"} xref: UMLS:C4310687 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:617162", source="OMIM:617162"} ! early infantile epileptic encephalopathy @@ -290363,9 +295513,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/64 id: MONDO:0014949 name: epileptic encephalopathy, early infantile, 47; EIEE47 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the FGF12 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in FGF12" EXACT [MONDO:design_pattern] synonym: "EIEE47" EXACT [OMIM:617166] synonym: "epileptic encephalopathy, early infantile, 47" EXACT [OMIM:617166] synonym: "epileptic encephalopathy, early infantile, type 47" EXACT [MONDORULE:2, OMIM:617166] +synonym: "FGF12 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:617166 {source="MONDO:equivalentTo"} xref: UMLS:C4310685 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0016021 {source="DC-OMIM:617166", source="OMIM:617166"} ! early infantile epileptic encephalopathy @@ -290383,6 +295535,8 @@ synonym: "AAT10" EXACT [OMIM:617168] synonym: "aortic aneurysm, familial thoracic 10" EXACT [OMIM:617168] synonym: "aortic aneurysm, familial thoracic 10; AAT10" RELATED [OMIM:617168] synonym: "aortic aneurysm, familial thoracic type 10" EXACT [MONDORULE:2, OMIM:617168] +synonym: "familial thoracic aortic aneurysm and aortic dissection caused by mutation in LOX" EXACT [MONDO:design_pattern] +synonym: "LOX familial thoracic aortic aneurysm and aortic dissection" EXACT [MONDO:design_pattern] xref: OMIM:617168 {source="MONDO:equivalentTo"} xref: UMLS:C4284414 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0011769 {source="OMIM:617168"} ! familial aortic dissection @@ -290396,8 +295550,10 @@ property_value: confidence "0.014130103558823048" xsd:double id: MONDO:0014951 name: Sotos syndrome 3 def: "Any Sotos syndrome in which the cause of the disease is a mutation in the APC2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "APC2 Sotos syndrome" EXACT [MONDO:design_pattern] synonym: "Sotos syndrome 3" EXACT [OMIM:617169] synonym: "Sotos syndrome 3; SOTOS3" RELATED [OMIM:617169] +synonym: "Sotos syndrome caused by mutation in APC2" EXACT [MONDO:design_pattern] synonym: "Sotos syndrome type 3" EXACT [MONDORULE:1, OMIM:617169] synonym: "SOTOS3" EXACT [OMIM:617169] xref: OMIM:617169 {source="MONDO:equivalentTo"} @@ -290503,7 +295659,7 @@ synonym: "PEBEL" EXACT [OMIM:617186] xref: EFO:0009158 {source="MONDO:equivalentTo"} xref: OMIM:617186 {source="MONDO:equivalentTo"} xref: UMLS:C4310675 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0003847 {source="EFO:0009158"} ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18453 {source="mim2gene_medgen"} ! NAXE [Term] @@ -290511,9 +295667,11 @@ id: MONDO:0014961 name: spermatogenic failure 16; SPGF16 def: "Any azoospermia in which the cause of the disease is a mutation in the SUN5 gene." [MONDO:patterns/disease_series_by_gene] synonym: "acephalic spermatozoa syndrome" RELATED [OMIM:617187] +synonym: "azoospermia caused by mutation in SUN5" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 16" EXACT [OMIM:617187] synonym: "spermatogenic failure type 16" EXACT [MONDORULE:2, OMIM:617187] synonym: "SPGF16" EXACT [OMIM:617187] +synonym: "SUN5 azoospermia" EXACT [MONDO:design_pattern] xref: OMIM:617187 {source="MONDO:equivalentTo"} xref: UMLS:C4310674 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0004983 {source="DC-OMIM:617187", source="OMIM:617187"} ! azoospermia @@ -290526,6 +295684,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16 id: MONDO:0014962 name: intellectual disability, autosomal recessive 57; MRT57 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the MBOAT7 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in MBOAT7" EXACT [MONDO:design_pattern] +synonym: "MBOAT7 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 57" EXACT [OMIM:617188] synonym: "mental retardation, autosomal recessive 57; MRT57" RELATED [OMIM:617188] synonym: "mental retardation, autosomal recessive type 57" EXACT [MONDORULE:2, OMIM:617188] @@ -290561,9 +295721,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11 [Term] id: MONDO:0014965 name: lethal congenital contracture syndrome 11; LCCS11 +def: "Any lethal congenital contracture syndrome in which the cause of the disease is a mutation in the GLDN gene." [MONDO:design_pattern] +synonym: "GLDN lethal congenital contracture syndrome" EXACT [MONDO:design_pattern] synonym: "LCCS11" EXACT [OMIM:617194] synonym: "lethal congenital contracture arthrogryposis-11" RELATED [GARD:0013220] synonym: "lethal congenital contracture syndrome 11" EXACT [OMIM:617194] +synonym: "lethal congenital contracture syndrome caused by mutation in GLDN" EXACT [MONDO:design_pattern] synonym: "lethal congenital contracture syndrome type 11" EXACT [MONDORULE:2, OMIM:617194] xref: GARD:0013220 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: OMIM:617194 {source="MONDO:equivalentTo"} @@ -290577,7 +295740,9 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/29 id: MONDO:0014966 name: periventricular nodular heterotopia 7; PVNH7 def: "Any periventricular nodular heterotopia in which the cause of the disease is a mutation in the NEDD4L gene." [MONDO:patterns/disease_series_by_gene] +synonym: "NEDD4L periventricular nodular heterotopia" EXACT [MONDO:design_pattern] synonym: "periventricular nodular heterotopia 7" EXACT [OMIM:617201] +synonym: "periventricular nodular heterotopia caused by mutation in NEDD4L" EXACT [MONDO:design_pattern] synonym: "periventricular nodular heterotopia type 7" EXACT [MONDORULE:1, OMIM:617201] synonym: "PVNH7" EXACT [OMIM:617201] xref: OMIM:617201 {source="MONDO:equivalentTo"} @@ -290594,6 +295759,8 @@ name: heterotaxy, visceral, 8, autosomal; HTX8 def: "Any visceral heterotaxy in which the cause of the disease is a mutation in the PKD1L1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "heterotaxy, visceral, 8, autosomal" EXACT [OMIM:617205] synonym: "HTX8" RELATED [OMIM:617205] +synonym: "PKD1L1 visceral heterotaxy" EXACT [MONDO:design_pattern] +synonym: "visceral heterotaxy caused by mutation in PKD1L1" EXACT [MONDO:design_pattern] xref: OMIM:617205 {source="MONDO:equivalentTo"} xref: UMLS:C4310668 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease @@ -290634,7 +295801,9 @@ property_value: confidence "0.9166666666666667" xsd:double id: MONDO:0014970 name: spermatogenic failure 17; SPGF17 def: "Any azoospermia in which the cause of the disease is a mutation in the PLCZ1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "azoospermia caused by mutation in PLCZ1" EXACT [MONDO:design_pattern] synonym: "Male infertility due to oocyte Activation failure" RELATED [OMIM:617214] +synonym: "PLCZ1 azoospermia" EXACT [MONDO:design_pattern] synonym: "spermatogenic failure 17" EXACT [OMIM:617214] synonym: "spermatogenic failure type 17" EXACT [MONDORULE:2, OMIM:617214] synonym: "SPGF17" EXACT [OMIM:617214] @@ -290648,9 +295817,9 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/19 [Term] id: MONDO:0014971 -name: amelogenesis imperfecta, hypomaturation type, Iia6; AI2A6 +name: amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6 synonym: "AI2A6" EXACT [OMIM:617217] -synonym: "amelogenesis imperfecta, hypomaturation type, Iia6" EXACT [OMIM:617217] +synonym: "amelogenesis imperfecta, hypomaturation type, IIa6" EXACT [OMIM:617217] xref: OMIM:617217 {source="MONDO:equivalentTo"} xref: UMLS:C4310665 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003847 ! inherited genetic disease @@ -290690,6 +295859,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/28 id: MONDO:0014975 name: spastic paraplegia 78, autosomal recessive; SPG78 def: "Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the ATP13A2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ATP13A2 hereditary spastic paraplegia" EXACT [MONDO:design_pattern] +synonym: "hereditary spastic paraplegia caused by mutation in ATP13A2" EXACT [MONDO:design_pattern] synonym: "spastic paraplegia 78, autosomal recessive" EXACT [OMIM:617225] synonym: "SPG78" EXACT [OMIM:617225] xref: OMIM:617225 {source="MONDO:equivalentTo"} @@ -290706,8 +295877,10 @@ def: "Lethal left ventricular non-compaction-seizures-hypotonia-cataract-develop subset: ordo_disease {source="Orphanet:478049"} synonym: "combined oxidative phosphorylation deficiency 31" EXACT [OMIM:617228] synonym: "combined oxidative phosphorylation deficiency 31; COXPD31" RELATED [OMIM:617228] +synonym: "combined oxidative phosphorylation deficiency caused by mutation in MIPEP" EXACT [MONDO:design_pattern] synonym: "combined oxidative phosphorylation deficiency type 31" EXACT [MONDORULE:2, OMIM:617228] synonym: "COXPD31" EXACT [OMIM:617228] +synonym: "MIPEP combined oxidative phosphorylation deficiency" EXACT [MONDO:design_pattern] xref: OMIM:617228 {source="Orphanet:478049", source="MONDO:equivalentTo"} xref: Orphanet:478049 {source="MONDO:equivalentTo"} xref: UMLS:C4310661 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -290717,6 +295890,8 @@ is_a: MONDO:0016578 {source="Orphanet:478049"} ! mitochondrial oxidative phospho is_a: MONDO:0019058 {source="Orphanet:478049"} ! neurometabolic disease is_a: MONDO:0020029 {source="MONDO:Redundant", source="Orphanet:478049"} ! rare genetic cardiac disease is_a: MONDO:0020225 {source="Orphanet:478049"} ! syndromic cataract +intersection_of: MONDO:0000732 {source="mim2gene_medgen"} ! combined oxidative phosphorylation deficiency +intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7104 {source="mim2gene_medgen"} ! MIPEP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/7104 {source="mim2gene_medgen"} ! MIPEP property_value: confidence "0.9166666666666667" xsd:double @@ -290726,9 +295901,11 @@ name: autosomal recessive limb-girdle muscular dystrophy type 2Z alt_id: MONDO:0018817 def: "An autosomal recessive condition caused by mutation(s) in the POGLUT1 gene, encoding protein O-glucosyltransferase 1. It is characterized by progressive muscular dystrophy, primarily affecting the proximal muscles, resulting in difficulty walking." [NCIT:C142082] subset: ordo_disease {source="Orphanet:480682"} +synonym: "autosomal recessive limb-girdle muscular dystrophy caused by mutation in POGLUT1" EXACT [MONDO:design_pattern] synonym: "LGMD2Z" EXACT [OMIM:617232, Orphanet:480682] synonym: "limb-girdle muscular dystrophy type 2Z" EXACT [NCIT:C142082] synonym: "muscular dystrophy, limb-girdle, type 2Z" EXACT [OMIM:617232] +synonym: "POGLUT1 autosomal recessive limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] xref: NCIT:C142082 {source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo"} xref: OMIM:617232 {source="MONDO:equivalentTo"} xref: Orphanet:480682 {source="MONDO:equivalentTo"} @@ -290745,7 +295922,9 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/22 id: MONDO:0014978 name: preimplantation embryonic lethality 2; PREMBL2 def: "Any preimplantation embryonic lethality in which the cause of the disease is a mutation in the PADI6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "PADI6 preimplantation embryonic lethality" EXACT [MONDO:design_pattern] synonym: "preimplantation embryonic lethality 2" EXACT [OMIM:617234] +synonym: "preimplantation embryonic lethality caused by mutation in PADI6" EXACT [MONDO:design_pattern] synonym: "preimplantation embryonic lethality type 2" EXACT [MONDORULE:1, OMIM:617234] synonym: "PREMBL2" EXACT [OMIM:617234] xref: OMIM:617234 {source="MONDO:equivalentTo"} @@ -290774,16 +295953,18 @@ synonym: "CRDHL" EXACT [OMIM:617236] xref: EFO:0009151 {source="MONDO:equivalentTo"} xref: OMIM:617236 {source="MONDO:equivalentTo"} xref: UMLS:C4310657 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0003847 {source="EFO:0009151"} ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/25740 {source="mim2gene_medgen"} ! CEP78 [Term] id: MONDO:0014981 name: immunodeficiency 49; IMD49 def: "Any primary immunodeficiency disease in which the cause of the disease is a mutation in the BCL11B gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BCL11B primary immunodeficiency disease" EXACT [MONDO:design_pattern] synonym: "IMD49" EXACT [OMIM:617237] synonym: "immunodeficiency 49" EXACT [OMIM:617237] synonym: "immunodeficiency type 49" EXACT [MONDORULE:2, OMIM:617237] +synonym: "primary immunodeficiency disease caused by mutation in BCL11B" EXACT [MONDO:design_pattern] synonym: "SCID, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities" RELATED [OMIM:617237] synonym: "Severe combined immunodeficiency, T cell-Negative, B cell-Positive, Nk cell-Positive, with intellectual disability, spasticity, and craniofacial abnormalities" RELATED [OMIM:617237] xref: OMIM:617237 {source="MONDO:equivalentTo"} @@ -290814,13 +295995,15 @@ name: congenital myasthenic syndrome 21 def: "Any congenital myasthenic syndrome in which the cause of the disease is a mutation in the SLC18A3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "CMS21" EXACT [DOID:0110672, OMIM:617239] synonym: "congenital myasthenic syndrome 21, presynaptic" EXACT [DOID:0110672] +synonym: "congenital myasthenic syndrome caused by mutation in SLC18A3" EXACT [MONDO:design_pattern] synonym: "congenital myasthenic syndrome type 21" EXACT [DOID:0110672, MONDORULE:2] synonym: "myasthenic syndrome, congenital, 21, presynaptic" EXACT [OMIM:617239] synonym: "myasthenic syndrome, congenital, 21, presynaptic; CMS21" RELATED [OMIM:617239] +synonym: "SLC18A3 congenital myasthenic syndrome" EXACT [MONDO:design_pattern] xref: DOID:0110672 {source="MONDO:equivalentTo"} xref: OMIM:617239 {source="DOID:0110672", source="MONDO:equivalentTo"} xref: UMLS:C4310654 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0018940 {source="MONDO:Redundant", source="OMIM:617239"} ! congenital myasthenic syndrome +is_a: MONDO:0018940 {source="DOID:0110672", source="MONDO:Redundant", source="OMIM:617239"} ! congenital myasthenic syndrome is_a: MONDO:0020345 ! presynaptic congenital myasthenic syndrome intersection_of: MONDO:0018940 ! congenital myasthenic syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/10936 ! SLC18A3 @@ -290842,12 +296025,14 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/76 id: MONDO:0014985 name: Fanconi anemia complementation group v def: "Any Fanconi anemia in which the cause of the disease is a mutation in the MAD2L2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi anemia caused by mutation in MAD2L2" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type V" EXACT [DOID:0111080, MONDORULE:1] synonym: "Fanconi Anemia, complementation Group 5" RELATED [OMIM:617243] synonym: "Fanconi Anemia, complementation group type V" EXACT [MONDORULE:1, OMIM:617243] synonym: "Fanconi Anemia, complementation group V" EXACT [OMIM:617243] synonym: "FANCONI ANEMIA, complementation GROUP V; FANCV" RELATED [OMIM:617243] synonym: "FANCV" EXACT [DOID:0111080, OMIM:617243] +synonym: "MAD2L2 Fanconi anemia" EXACT [MONDO:design_pattern] xref: DOID:0111080 {source="MONDO:equivalentTo"} xref: OMIM:617243 {source="DOID:0111080", source="MONDO:equivalentTo"} xref: UMLS:C4310652 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -290861,11 +296046,13 @@ property_value: confidence "2.5000000000000036" xsd:double id: MONDO:0014986 name: Fanconi anemia complementation group r def: "Any Fanconi anemia in which the cause of the disease is a mutation in the RAD51 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi anemia caused by mutation in RAD51" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type R" EXACT [DOID:0111090, MONDORULE:1] synonym: "Fanconi Anemia, complementation group R" EXACT [OMIM:617244] synonym: "FANCONI ANEMIA, complementation GROUP R; FANCR" RELATED [OMIM:617244] synonym: "Fanconi Anemia, complementation group type R" EXACT [MONDORULE:1, OMIM:617244] synonym: "FANCR" EXACT [DOID:0111090, OMIM:617244] +synonym: "RAD51 Fanconi anemia" EXACT [MONDO:design_pattern] xref: DOID:0111090 {source="MONDO:equivalentTo"} xref: OMIM:617244 {source="DOID:0111090", source="MONDO:equivalentTo"} xref: UMLS:C4284093 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -290879,11 +296066,13 @@ property_value: confidence "2.5000000000000036" xsd:double id: MONDO:0014987 name: Fanconi anemia complementation group U def: "Any Fanconi anemia in which the cause of the disease is a mutation in the XRCC2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "Fanconi anemia caused by mutation in XRCC2" EXACT [MONDO:design_pattern] synonym: "Fanconi anemia complementation group type U" EXACT [DOID:0111085, MONDORULE:1] synonym: "Fanconi Anemia, complementation group type U" EXACT [MONDORULE:1, OMIM:617247] synonym: "Fanconi Anemia, complementation group U" EXACT [OMIM:617247] synonym: "FANCONI ANEMIA, complementation GROUP U; FANCU" RELATED [OMIM:617247] synonym: "FANCU" EXACT [DOID:0111085, OMIM:617247] +synonym: "XRCC2 Fanconi anemia" EXACT [MONDO:design_pattern] xref: DOID:0111085 {source="MONDO:equivalentTo"} xref: OMIM:617247 {source="DOID:0111085", source="MONDO:equivalentTo"} xref: UMLS:C4310651 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -290908,8 +296097,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14 id: MONDO:0014989 name: uncombable hair syndrome 2; UHS2 def: "Any uncombable hair syndrome in which the cause of the disease is a mutation in the TGM3 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "TGM3 uncombable hair syndrome" EXACT [MONDO:design_pattern] synonym: "UHS2" RELATED [OMIM:617251] synonym: "uncombable hair syndrome 2" EXACT [OMIM:617251] +synonym: "uncombable hair syndrome caused by mutation in TGM3" EXACT [MONDO:design_pattern] synonym: "uncombable hair syndrome type 2" EXACT [MONDORULE:1, OMIM:617251] xref: OMIM:617251 {source="MONDO:equivalentTo"} xref: UMLS:C4310649 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -290923,8 +296114,10 @@ property_value: confidence "0.26984126984126977" xsd:double id: MONDO:0014990 name: uncombable hair syndrome 3; UHS3 def: "Any uncombable hair syndrome in which the cause of the disease is a mutation in the TCHH gene." [MONDO:patterns/disease_series_by_gene] +synonym: "TCHH uncombable hair syndrome" EXACT [MONDO:design_pattern] synonym: "UHS3" RELATED [OMIM:617252] synonym: "uncombable hair syndrome 3" EXACT [OMIM:617252] +synonym: "uncombable hair syndrome caused by mutation in TCHH" EXACT [MONDO:design_pattern] synonym: "uncombable hair syndrome type 3" EXACT [MONDORULE:1, OMIM:617252] xref: OMIM:617252 {source="MONDO:equivalentTo"} xref: UMLS:C4310648 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -290938,9 +296131,11 @@ property_value: confidence "0.26984126984126977" xsd:double id: MONDO:0014991 name: Seckel syndrome 10 def: "Any Seckel syndrome in which the cause of the disease is a mutation in the NSMCE2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "NSMCE2 Seckel syndrome" EXACT [MONDO:design_pattern] synonym: "SCKL10" EXACT [DOID:0070008, OMIM:617253] synonym: "Seckel syndrome 10" EXACT [OMIM:617253] synonym: "Seckel syndrome 10; SCKL10" RELATED [OMIM:617253] +synonym: "Seckel syndrome caused by mutation in NSMCE2" EXACT [MONDO:design_pattern] synonym: "Seckel syndrome type 10" EXACT [MONDORULE:2, OMIM:617253] xref: DOID:0070008 {source="MONDO:equivalentTo"} xref: OMIM:617253 {source="DOID:0070008", source="MONDO:equivalentTo"} @@ -291007,6 +296202,8 @@ id: MONDO:0014996 name: intellectual disability, autosomal recessive 58; MRT58 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the ELP2 gene." [MONDO:patterns/disease_series_by_gene] synonym: "autosomal recessive intellectual disability 58" RELATED [GARD:0013361] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in ELP2" EXACT [MONDO:design_pattern] +synonym: "ELP2 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "ELP2-related disorder" RELATED [GARD:0013361] synonym: "mental retardation, autosomal recessive 58" EXACT [OMIM:617270] synonym: "mental retardation, autosomal recessive 58; MRT58" RELATED [OMIM:617270] @@ -291052,7 +296249,9 @@ property_value: confidence "0.6519518666964457" xsd:double id: MONDO:0014999 name: tooth agenesis, selective, 9; STHAG9 def: "Any tooth agenesis in which the cause of the disease is a mutation in the GREM2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "GREM2 tooth agenesis" EXACT [MONDO:design_pattern] synonym: "STHAG9" EXACT [OMIM:617275] +synonym: "tooth agenesis caused by mutation in GREM2" EXACT [MONDO:design_pattern] synonym: "Tooth agenesis, selective, 9" EXACT [OMIM:617275] synonym: "Tooth agenesis, selective, type 9" EXACT [MONDORULE:1, OMIM:617275] xref: OMIM:617275 {source="MONDO:equivalentTo"} @@ -291067,6 +296266,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/17 id: MONDO:0015000 name: epileptic encephalopathy, early infantile, 48; EIEE48 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the AP3B2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "AP3B2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] +synonym: "early infantile epileptic encephalopathy caused by mutation in AP3B2" EXACT [MONDO:design_pattern] synonym: "EIEE48" EXACT [OMIM:617276] synonym: "epileptic encephalopathy, early infantile, 48" EXACT [OMIM:617276] synonym: "epileptic encephalopathy, early infantile, type 48" EXACT [MONDORULE:2, OMIM:617276] @@ -291085,6 +296286,8 @@ def: "Any familial atrial fibrillation in which the cause of the disease is a mu synonym: "ATFB18" EXACT [OMIM:617280] synonym: "atrial fibrillation, familial, 18" EXACT [OMIM:617280] synonym: "atrial fibrillation, familial, type 18" EXACT [MONDORULE:2, OMIM:617280] +synonym: "familial atrial fibrillation caused by mutation in MYL4" EXACT [MONDO:design_pattern] +synonym: "MYL4 familial atrial fibrillation" EXACT [MONDO:design_pattern] xref: OMIM:617280 {source="MONDO:equivalentTo"} xref: UMLS:C4310636 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0018054 {source="DC-OMIM:617280", source="MONDOLEX:0015001", source="OMIM:617280"} ! familial atrial fibrillation @@ -291096,6 +296299,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/75 id: MONDO:0015002 name: epileptic encephalopathy, early infantile, 49; EIEE49 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the DENND5A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DENND5A early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] +synonym: "early infantile epileptic encephalopathy caused by mutation in DENND5A" EXACT [MONDO:design_pattern] synonym: "EIEE49" EXACT [OMIM:617281] synonym: "epileptic encephalopathy, early infantile, 49" EXACT [OMIM:617281] synonym: "epileptic encephalopathy, early infantile, type 49" EXACT [MONDORULE:2, OMIM:617281] @@ -291124,7 +296329,9 @@ id: MONDO:0015004 name: dystonia 28, childhood-onset; DYT28 def: "Any dystonic disorder in which the cause of the disease is a mutation in the KMT2B gene." [MONDO:patterns/disease_series_by_gene] synonym: "Dystonia 28, childhood-onset" EXACT [OMIM:617284] +synonym: "dystonic disorder caused by mutation in KMT2B" EXACT [MONDO:design_pattern] synonym: "DYT28" EXACT [OMIM:617284] +synonym: "KMT2B dystonic disorder" EXACT [MONDO:design_pattern] xref: OMIM:617284 {source="MONDO:equivalentTo"} xref: UMLS:C4310633 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0003441 {source="DC-OMIM:617284", source="OMIM:617284"} ! dystonic disorder @@ -291210,9 +296417,11 @@ property_value: confidence "0.5" xsd:double id: MONDO:0015011 name: optic atrophy 11; OPA11 def: "Any autosomal recessive isolated optic atrophy in which the cause of the disease is a mutation in the YME1L1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive isolated optic atrophy caused by mutation in YME1L1" EXACT [MONDO:design_pattern] synonym: "OPA11" EXACT [OMIM:617302] synonym: "optic atrophy 11" EXACT [OMIM:617302] synonym: "optic atrophy type 11" EXACT [MONDORULE:2, OMIM:617302] +synonym: "YME1L1 autosomal recessive isolated optic atrophy" EXACT [MONDO:design_pattern] xref: OMIM:617302 {source="MONDO:equivalentTo"} xref: UMLS:C4310628 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} xref: UMLS:CN230145 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -291247,7 +296456,9 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18 id: MONDO:0015013 name: retinitis pigmentosa 77; RP77 def: "Any retinitis pigmentosa in which the cause of the disease is a mutation in the REEP6 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "REEP6 retinitis pigmentosa" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa 77" EXACT [OMIM:617304] +synonym: "retinitis pigmentosa caused by mutation in REEP6" EXACT [MONDO:design_pattern] synonym: "retinitis pigmentosa type 77" EXACT [MONDORULE:2, OMIM:617304] synonym: "RP77" RELATED [OMIM:617304] xref: OMIM:617304 {source="MONDO:equivalentTo"} @@ -291271,10 +296482,12 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/71 id: MONDO:0015015 name: congenital bile acid synthesis defect 6 def: "Any congenital bile acid synthesis defect in which the cause of the disease is a mutation in the ACOX2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "ACOX2 congenital bile acid synthesis defect" EXACT [MONDO:design_pattern] synonym: "bile acid synthesis defect, congenital, 6" EXACT [OMIM:617308] synonym: "bile acid synthesis defect, congenital, 6; CBAS6" RELATED [OMIM:617308] synonym: "bile acid synthesis defect, congenital, type 6" EXACT [MONDORULE:1, OMIM:617308] synonym: "CBAS6" EXACT [DOID:0111067, OMIM:617308] +synonym: "congenital bile acid synthesis defect caused by mutation in ACOX2" EXACT [MONDO:design_pattern] synonym: "congenital bile acid synthesis defect type 6" EXACT [DOID:0111067, MONDORULE:1] xref: DOID:0111067 {source="MONDO:equivalentTo"} xref: OMIM:617308 {source="DOID:0111067", source="MONDO:equivalentTo"} @@ -291303,8 +296516,10 @@ name: anterior segment dysgenesis 8 def: "Any anterior segment dysgenesis in which the cause of the disease is a mutation in the CPAMD8 gene." [MONDO:patterns/disease_series_by_gene] synonym: "anterior segment dysgenesis 8" EXACT [OMIM:617319] synonym: "anterior segment dysgenesis 8; ASGD8" RELATED [OMIM:617319] +synonym: "anterior segment dysgenesis caused by mutation in CPAMD8" EXACT [MONDO:design_pattern] synonym: "anterior segment dysgenesis type 8" EXACT [MONDORULE:1, OMIM:617319] synonym: "ASGD8" EXACT [OMIM:617319] +synonym: "CPAMD8 anterior segment dysgenesis" EXACT [MONDO:design_pattern] xref: OMIM:617319 {source="MONDO:equivalentTo"} xref: UMLS:C4310622 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019503 {source="DC-OMIM:617319", source="OMIM:617319"} ! anterior segment dysgenesis @@ -291342,6 +296557,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/53 id: MONDO:0015020 name: intellectual disability, autosomal recessive 59; MRT59 def: "Any autosomal recessive non-syndromic intellectual disability in which the cause of the disease is a mutation in the IMPA1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal recessive non-syndromic intellectual disability caused by mutation in IMPA1" EXACT [MONDO:design_pattern] +synonym: "IMPA1 autosomal recessive non-syndromic intellectual disability" EXACT [MONDO:design_pattern] synonym: "mental retardation, autosomal recessive 59" EXACT [OMIM:617323] synonym: "mental retardation, autosomal recessive 59; MRT59" RELATED [OMIM:617323] synonym: "mental retardation, autosomal recessive type 59" EXACT [MONDORULE:2, OMIM:617323] @@ -291371,17 +296588,19 @@ synonym: "intellectual developmental disorder with dysmorphic facies and ptosis" xref: EFO:0009070 {source="MONDO:equivalentTo"} xref: OMIM:617333 {source="MONDO:equivalentTo"} xref: UMLS:C4310617 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 ! inherited genetic disease +is_a: MONDO:0003847 {source="EFO:0009070"} ! inherited genetic disease relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14255 {source="mim2gene_medgen"} ! BRPF1 [Term] id: MONDO:0015023 name: nemaline myopathy 11 def: "Any nemaline myopathy in which the cause of the disease is a mutation in the MYPN gene." [MONDO:patterns/disease_series_by_gene] +synonym: "MYPN nemaline myopathy" EXACT [MONDO:design_pattern] synonym: "NEM11" EXACT [DOID:0110933, OMIM:617336] synonym: "nemaline Myopathy 11, autosomal recessive" EXACT [OMIM:617336] synonym: "nemaline myopathy 11, autosomal recessive" EXACT [DOID:0110933] synonym: "nemaline MYOPATHY 11, autosomal recessive; NEM11" RELATED [OMIM:617336] +synonym: "nemaline myopathy caused by mutation in MYPN" EXACT [MONDO:design_pattern] synonym: "nemaline myopathy type 11" EXACT [DOID:0110933, MONDORULE:2] xref: DOID:0110933 {source="MONDO:equivalentTo"} xref: OMIM:617336 {source="DOID:0110933", source="MONDO:equivalentTo"} @@ -291399,6 +296618,8 @@ name: ectodermal dysplasia 12, hypohidrotic/hair/tooth/nail type; ECTD12 def: "Any ectodermal dysplasia syndrome in which the cause of the disease is a mutation in the KDF1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ECTD12" EXACT [OMIM:617337] synonym: "ectodermal dysplasia 12, hypohidrotic/hair/Tooth/nail type" EXACT [OMIM:617337] +synonym: "ectodermal dysplasia syndrome caused by mutation in KDF1" EXACT [MONDO:design_pattern] +synonym: "KDF1 ectodermal dysplasia syndrome" EXACT [MONDO:design_pattern] xref: OMIM:617337 {source="MONDO:equivalentTo"} xref: UMLS:C4310616 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0019287 {source="DC-OMIM:617337", source="MONDOLEX:0015024", source="OMIM:617337"} ! ectodermal dysplasia syndrome @@ -291410,9 +296631,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26 id: MONDO:0015025 name: epileptic encephalopathy, early infantile, 51; EIEE51 def: "Any early infantile epileptic encephalopathy in which the cause of the disease is a mutation in the MDH2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "early infantile epileptic encephalopathy caused by mutation in MDH2" EXACT [MONDO:design_pattern] synonym: "EIEE51" EXACT [OMIM:617339] synonym: "epileptic encephalopathy, early infantile, 51" EXACT [OMIM:617339] synonym: "epileptic encephalopathy, early infantile, type 51" EXACT [MONDORULE:2, OMIM:617339] +synonym: "MDH2 early infantile epileptic encephalopathy" EXACT [MONDO:design_pattern] xref: OMIM:617339 {source="MONDO:equivalentTo"} xref: UMLS:C4479208 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:CN240510 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -291429,7 +296652,9 @@ def: "Any Coats plus syndrome in which the cause of the disease is a mutation in synonym: "cerebroretinal microangiopathy with calcifications and cysts 2" RELATED [OMIM:617341] synonym: "cerebroretinal microangiopathy with calcifications and cysts 2; CRMCC2" RELATED [OMIM:617341] synonym: "cerebroretinal microangiopathy with calcifications and cysts type 2;" EXACT [MONDORULE:4, OMIM:617341] +synonym: "Coats plus syndrome caused by mutation in STN1" EXACT [MONDO:design_pattern] synonym: "CRMCC2" RELATED [OMIM:617341] +synonym: "STN1 Coats plus syndrome" EXACT [MONDO:design_pattern] xref: OMIM:617341 {source="MONDO:equivalentTo"} xref: UMLS:CN240513 {source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} is_a: MONDO:0012815 {source="OMIM:617341"} ! Coats plus syndrome @@ -291491,7 +296716,7 @@ name: reticular perineurioma subset: ordo_clinical_subtype {source="Orphanet:100000"} xref: Orphanet:100000 {source="MONDO:equivalentTo"} xref: UMLS:CN197319 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015031 {source="Orphanet:100000"} ! Extraneural perineurioma +is_a: MONDO:0015031 {source="Orphanet:100000"} ! extraneural perineurioma [Term] id: MONDO:0015030 @@ -291499,11 +296724,11 @@ name: sclerosing perineurioma subset: ordo_clinical_subtype {source="Orphanet:100001"} xref: Orphanet:100001 {source="MONDO:equivalentTo"} xref: UMLS:CN197320 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015031 {source="Orphanet:100001"} ! Extraneural perineurioma +is_a: MONDO:0015031 {source="Orphanet:100001"} ! extraneural perineurioma [Term] id: MONDO:0015031 -name: Extraneural perineurioma +name: extraneural perineurioma def: "Extraneural perineurioma is a rare tumor of cranial and spinal nerves arising from peripheral nerve sheet and composed exclusively or predominantly of cells showing perineurial differentiation. It presents as a well-circumscribed, rarely encapsulated mass, not associated with a recognizable nerve, most commonly arising in the dermis and subcutis of the extremities or trunk, or, rarely, in deep soft tissue or skin (e.g., in the stomach, kidney, pancreas, maxillary sinus, mandible, bronchial tree and the face). The clinical presentation depends on the localization." [Orphanet:100002] subset: ordo_disease {source="Orphanet:100002"} synonym: "soft tissue perineurioma" EXACT [Orphanet:100002] @@ -291524,7 +296749,7 @@ xref: NCIT:C6911 {source="DOID:4696", source="MONDO:kboom-pr-1.00/0.87/15.87", s xref: Orphanet:100003 {source="MONDO:equivalentTo"} xref: SCTID:128795001 {source="DOID:4696"} xref: UMLS:C1370658 {source="DOID:4696", source="NCIT:C6911", source="ORDO:100003/e", source="Orphanet:100003", source="MONDO:equivalentTo"} -is_a: MONDO:0001406 {source="MONDO:Redundant", source="NCIT:C6911"} ! peripheral nervous system neoplasm +is_a: MONDO:0001406 {source="DOID:4696/inferred", source="MONDO:Redundant", source="NCIT:C6911"} ! peripheral nervous system neoplasm is_a: MONDO:0019404 {source="DOID:4696", source="NCIT:C6911", source="Orphanet:100003"} ! perineurioma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10921/intraneural-perineurioma xsd:anyURI {source="GARD:0010921"} @@ -291708,7 +296933,7 @@ xref: MESH:D007161 {source="MONDO:equivalentTo"} xref: NCIT:C3132 {source="MONDO:equivalentTo"} xref: Orphanet:100025 {source="MONDO:equivalentTo"} xref: UMLS:C0021071 {source="NCIT:C3132", source="Orphanet:100025", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0019464 {source="DOID:0060126", source="NCIT:C3132", source="Orphanet:100025"} ! heavy chain disease +is_a: MONDO:0019464 {source="DOID:0060126", source="MESH:D007161", source="NCIT:C3132", source="Orphanet:100025"} ! heavy chain disease [Term] id: MONDO:0015046 @@ -291768,7 +296993,7 @@ xref: OMIM:617217 {source="Orphanet:100033", source="ORDO:100033/btnt", source=" xref: Orphanet:100033 {source="MONDO:equivalentTo"} xref: SCTID:109475005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.73"} xref: UMLS:C0399372 {source="ORDO:100033/e", source="Orphanet:100033"} -is_a: MONDO:0019507 {source="Orphanet:100033", source="linkedlifedata"} ! amelogenesis imperfecta +is_a: MONDO:0019507 {source="MESH:C536606", source="Orphanet:100033", source="linkedlifedata"} ! amelogenesis imperfecta [Term] id: MONDO:0015049 @@ -291918,7 +297143,7 @@ xref: SCTID:716281000 {source="MONDO:equivalentTo"} xref: UMLS:C0751706 {source="Orphanet:100070", source="ORDO:100070/e"} is_a: MONDO:0011842 ! Grn-related frontotemporal lobar degeneration with Tdp43 inclusions is_a: MONDO:0017643 {source="Orphanet:100070"} ! frontotemporal neurodegeneration with movement disorder -is_a: MONDO:0019806 {source="NCIT:C85025", source="Orphanet:100070"} ! primary progressive aphasia +is_a: MONDO:0019806 {source="MESH:D057178", source="NCIT:C85025", source="Orphanet:100070"} ! primary progressive aphasia property_value: confidence "0.028571428571429136" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10793/progressive-non-fluent-aphasia xsd:anyURI {source="GARD:0010793"} @@ -292135,9 +297360,9 @@ xref: Orphanet:100083 {source="MONDO:equivalentTo"} xref: SCTID:707625001 {source="DOID:5457", source="MONDO:equivalentTo"} xref: UMLS:C1334374 {source="DOID:5457", source="MONDO:equivalentTo", source="NCIT:C6023"} is_a: MONDO:0015081 {source="Orphanet:100083"} ! neuroendocrine tumor with other location -is_a: MONDO:0019496 {source="MONDO:Redundant", source="NCIT:C6023", source="Orphanet:100083/inferred"} ! neuroendocrine neoplasm +is_a: MONDO:0019496 {source="DOID:5457", source="MONDO:Redundant", source="NCIT:C6023", source="Orphanet:100083/inferred", source="linkedlifedata"} ! neuroendocrine neoplasm is_a: MONDO:0020035 {source="Orphanet:100083"} ! rare otorhinolaryngologic tumor -is_a: MONDO:0021071 {source="MONDO:Entailed", source="MONDOLEX:0015070", source="NCIT:C6023"} ! laryngeal neoplasm +is_a: MONDO:0021071 {source="MONDO:Entailed", source="MONDOLEX:0015070", source="NCIT:C6023", source="linkedlifedata"} ! laryngeal neoplasm intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0001737 ! larynx @@ -292147,6 +297372,7 @@ name: middle ear neuroendocrine tumor def: "A neuroendocrine neoplasm that involves the middle ear." [MONDO:patterns/location] subset: ordo_disease {source="Orphanet:100084"} synonym: "middle ear neuroendocrine neoplasm" EXACT [MONDO:patterns/location] +synonym: "neuroendocrine neoplasm of middle ear" EXACT [MONDO:design_pattern] synonym: "neuroendocrine tumor of middle ear" EXACT [] xref: Orphanet:100084 {source="MONDO:equivalentTo"} xref: SCTID:717918002 {source="MONDO:kboom-pr-0.74/0.37/0.55", source="MONDO:equivalentTo"} @@ -292166,6 +297392,7 @@ synonym: "hepatic neuroendocrine carcinoma" EXACT [NCIT:C96787] synonym: "HNEC" EXACT [NCIT:C96787] synonym: "liver neuroendocrine cancer" EXACT [NCIT:C96787] synonym: "liver neuroendocrine carcinoma" EXACT [MONDO:patterns/location, NCIT:C96787] +synonym: "neuroendocrine carcinoma of liver" EXACT [MONDO:design_pattern] synonym: "PHNEC" EXACT [MONDO:cjm] synonym: "primary hepatic neuroendocrine carcinoma" EXACT [NCIT:C96787] synonym: "primary liver neuroendocrine carcinoma" EXACT [NCIT:C96787] @@ -292236,7 +297463,7 @@ xref: SCTID:127018007 {source="MONDO:kboom-pr-0.79/0.46/0.62", source="MONDO:equ xref: UMLS:C0040132 {source="ONCOTREE:THYROID"} xref: UMLS:C0040136 {source="NCIT:C3414", source="Orphanet:100087"} is_a: MONDO:0003240 {source="MONDO:Entailed", source="NCIT:C3414", source="linkedlifedata"} ! thyroid gland disease -is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3414/inferred", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3414/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0002046 ! thyroid gland @@ -292272,7 +297499,7 @@ xref: SCTID:448216007 {source="MONDO:kboom-pr-0.76/0.38/0.62", source="MONDO:equ xref: UMLS:C0549473 {source="DOID:3963", source="ORDO:100088/e", source="NCIT:C4815", source="Orphanet:100088", source="MONDO:equivalentTo"} is_a: MONDO:0002108 {source="DOID:3963", source="MONDO:Entailed", source="MONDOLEX:0015075", source="NCIT:C4815", source="linkedlifedata"} ! thyroid cancer is_a: MONDO:0004993 {source="DOID:3963", source="EFO:1000586", source="MONDO:Entailed", source="MONDOLEX:0015075", source="NCIT:C4815/inferred"} ! carcinoma -is_a: MONDO:0015074 {source="MONDO:Redundant", source="NCIT:C4815/inferred", source="Orphanet:100088", source="linkedlifedata"} ! thyroid tumor +is_a: MONDO:0015074 {source="MONDO:Redundant", source="NCIT:C4815/inferred", source="Orphanet:100088", source="linkedlifedata", source="linkedlifedata/inferred"} ! thyroid tumor intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0002046 ! thyroid gland @@ -292315,6 +297542,7 @@ synonym: "gastroenteropancreatic endocrine tumor" EXACT [Orphanet:100092] synonym: "GEP tumors" RELATED [GARD:0002437] synonym: "GEP-NEN" EXACT [Orphanet:100092] synonym: "GEP-NET" EXACT [Orphanet:100092] +synonym: "neuroendocrine neoplasm of digestive system" EXACT [MONDO:design_pattern] xref: GARD:0002437 {source="MONDO:equivalentTo"} xref: MESH:C535650 {source="MONDO:equivalentTo"} xref: Orphanet:100092 {source="MONDO:equivalentTo"} @@ -292413,6 +297641,7 @@ id: MONDO:0015087 name: autosomal dominant complex spastic paraplegia def: "Autosomal dominant form of complex hereditary spastic paraplegia." [MONDO:patterns/autosomal_dominant] subset: ordo_group_of_disorders {source="Orphanet:100979"} +synonym: "autosomal dominant complex hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "autosomal dominant complex HSP" EXACT [Orphanet:100979] synonym: "autosomal dominant complex SPG" EXACT [Orphanet:100979] synonym: "autosomal dominant complicated HSP" EXACT [Orphanet:100979] @@ -292431,6 +297660,7 @@ id: MONDO:0015088 name: autosomal dominant pure spastic paraplegia def: "Autosomal dominant form of pure hereditary spastic paraplegia." [MONDO:patterns/autosomal_dominant] subset: ordo_group_of_disorders {source="Orphanet:100980"} +synonym: "autosomal dominant pure hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "autosomal dominant pure HSP" EXACT [Orphanet:100980] synonym: "autosomal dominant pure SPG" EXACT [Orphanet:100980] synonym: "autosomal dominant uncomplicated HSP" EXACT [Orphanet:100980] @@ -292449,6 +297679,7 @@ id: MONDO:0015089 name: autosomal recessive complex spastic paraplegia def: "Autosomal recessive form of complex hereditary spastic paraplegia." [MONDO:patterns/autosomal_recessive] subset: ordo_group_of_disorders {source="Orphanet:100981"} +synonym: "autosomal recessive complex hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "autosomal recessive complex HSP" EXACT [Orphanet:100981] synonym: "autosomal recessive complex SPG" EXACT [Orphanet:100981] synonym: "autosomal recessive complicated HSP" EXACT [Orphanet:100981] @@ -292467,6 +297698,7 @@ id: MONDO:0015090 name: autosomal recessive pure spastic paraplegia def: "Autosomal recessive form of pure hereditary spastic paraplegia." [MONDO:patterns/autosomal_recessive] subset: ordo_group_of_disorders {source="Orphanet:100982"} +synonym: "autosomal recessive pure hereditary spastic paraplegia" EXACT [MONDO:design_pattern] synonym: "autosomal recessive pure HSP" EXACT [Orphanet:100982] synonym: "autosomal recessive pure SPG" EXACT [Orphanet:100982] synonym: "autosomal recessive uncomplicated HSP" EXACT [Orphanet:100982] @@ -292485,6 +297717,8 @@ id: MONDO:0015091 name: autosomal dominant spastic paraplegia type 9 def: "Any autosomal dominant complex spastic paraplegia in which the cause of the disease is a mutation in the ALDH18A1 gene." [MONDO:patterns/disease_series_by_gene] subset: ordo_disease {source="Orphanet:100990"} +synonym: "ALDH18A1 autosomal dominant complex spastic paraplegia" EXACT [MONDO:design_pattern] +synonym: "autosomal dominant complex spastic paraplegia caused by mutation in ALDH18A1" EXACT [MONDO:design_pattern] synonym: "autosomal dominant spastic paraparesis" RELATED [GARD:0009583] synonym: "bilateral cataracts, gastroesophageal reflux, and spastic paraparesis with amyotrophy" RELATED [GARD:0009583] synonym: "cataracts, motor neuronopathy, short stature and skeletal abnormalities" RELATED [GARD:0009583] @@ -292531,7 +297765,7 @@ xref: MedDRA:10071150 {source="ORDO:101030/e", source="Orphanet:101030"} xref: Orphanet:101030 {source="MONDO:equivalentTo"} xref: SCTID:699812002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C3160906 {source="ORDO:101030/e", source="Orphanet:101030", source="MONDO:equivalentTo"} -is_a: MONDO:0016292 {source="Orphanet:101030"} ! nodular neuronal heterotopia +is_a: MONDO:0016292 {source="Orphanet:101030", source="linkedlifedata"} ! nodular neuronal heterotopia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5050/subependymal-nodular-heterotopia xsd:anyURI {source="GARD:0005050"} [Term] @@ -292651,7 +297885,7 @@ xref: Orphanet:101330 {source="DOID:3132", source="MONDO:equivalentTo"} xref: SCTID:61860000 {source="DOID:3132", source="MONDO:kboom-pr-0.88/0.75/0.07", source="MONDO:equivalentTo"} xref: UMLS:C0162566 {source="ORDO:101330/e", source="Orphanet:101330", source="DOID:3132", source="NCIT:C27725", source="MONDO:equivalentTo"} is_a: MONDO:0002406 {source="DOID:3132", source="NCIT:C27725"} ! dermatitis -is_a: MONDO:0002520 {source="DOID:3132", source="linkedlifedata"} ! acute hepatic porphyria +is_a: MONDO:0002520 {source="DOID:3132", source="MESH:D017119", source="linkedlifedata"} ! acute hepatic porphyria is_a: MONDO:0019800 {source="Orphanet:101330"} ! chronic hepatic porphyria relationship: excluded_subClassOf MONDO:0019142 {source="MESH:D017119/inferred", source="MONDO:Redundant", source="NCIT:C27725", source="Orphanet:101330/inferred"} ! inherited porphyria relationship: excluded_subClassOf MONDO:0020266 {source="Orphanet:101330"} ! genodermatosis with ocular features @@ -292938,8 +298172,8 @@ xref: MedDRA:10052381 {source="Orphanet:101958", source="ORDO:101958/e"} xref: NCIT:C113172 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equivalentTo"} xref: Orphanet:101958 {source="MONDO:equivalentTo"} xref: UMLS:C3887896 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C113172"} -is_a: MONDO:0000004 {source="NCIT:C113172"} ! adrenocortical insufficiency is_a: MONDO:0015124 {source="Orphanet:101958"} ! rare adrenal disease +relationship: excluded_subClassOf MONDO:0000004 {source="NCIT:C113172"} ! adrenocortical insufficiency [Term] id: MONDO:0015129 @@ -293162,6 +298396,9 @@ id: MONDO:0015141 name: disorder of medulla oblongata def: "A disease that involves the medulla oblongata." [MONDO:patterns/location] subset: ordo_group_of_disorders {source="Orphanet:102000"} +synonym: "disease of medulla oblongata" EXACT [MONDO:design_pattern] +synonym: "medulla oblongata disease" EXACT [MONDO:design_pattern] +synonym: "medulla oblongata disease or disorder" EXACT [MONDO:design_pattern] synonym: "medullar disease" RELATED [Orphanet:102000] xref: Orphanet:102000 {source="MONDO:equivalentTo"} xref: UMLS:CN197487 {source="MONDO:equivalentTo"} @@ -293599,7 +298836,7 @@ xref: SCTID:2898300013 {source="DOID:0040091"} xref: SCTID:448542008 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C2609129 {source="Orphanet:103919", source="ORDO:103919/e", source="DOID:0040091", source="MONDO:equivalentTo"} is_a: MONDO:0000569 {source="DOID:0040091"} ! autoimmune disease of endocrine system -is_a: MONDO:0002356 {source="DOID:0040091"} ! pancreas disease +is_a: MONDO:0002356 {source="DOID:0040091", source="linkedlifedata/inferred"} ! pancreas disease is_a: MONDO:0015112 {source="Orphanet:103919"} ! rare pancreatic disease is_a: MONDO:0017287 {source="Orphanet:103919"} ! IgG4-related disease intersection_of: MONDO:0004982 ! pancreatitis @@ -293766,6 +299003,7 @@ name: metabolic disease with intestinal involvement def: "A metabolic disease that involves the intestine." [MONDO:patterns/location] subset: ordo_group_of_disorders {source="Orphanet:104013"} synonym: "intestine metabolic disease" EXACT [MONDO:patterns/location] +synonym: "metabolic disease of intestine" EXACT [MONDO:design_pattern] xref: Orphanet:104013 {source="MONDO:equivalentTo"} xref: UMLS:CN197528 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015616 {source="Orphanet:104013"} ! rare genetic intestinal disease @@ -293859,7 +299097,7 @@ xref: SCTID:154810008 {source="DOID:8955"} xref: SCTID:191263002 {source="DOID:8955"} xref: SCTID:41841004 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:8955", source="MONDO:equivalentTo"} xref: UMLS:C0002896 {source="DOID:8955", source="ORDO:1047/e", source="NCIT:C36078", source="Orphanet:1047", source="MONDO:equivalentTo"} -is_a: MONDO:0002280 {source="MESH:D000756", source="MONDO:Redundant", source="NCIT:C36078", source="linkedlifedata"} ! anemia (disease) +is_a: MONDO:0002280 {source="DOID:8955/inferred", source="MESH:D000756", source="MONDO:Redundant", source="NCIT:C36078", source="linkedlifedata"} ! anemia (disease) relationship: excluded_subClassOf MONDO:0012197 {source="DOID:8955"} ! idiopathic aplastic anemia [Term] @@ -293914,7 +299152,7 @@ xref: ICD10:Q25.4 {source="Orphanet:1054", source="ORDO:1054/ntbt"} xref: ICD9:747.29 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:1054 {source="MONDO:equivalentTo"} xref: SCTID:54160000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.79/8.56"} -is_a: MONDO:0005561 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! aortic disease +is_a: MONDO:0005561 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! aortic disease is_a: MONDO:0020293 {source="Orphanet:1054"} ! ascending aorta anomaly relationship: disease_has_location UBERON:0003707 ! sinus of Valsalva property_value: seeAlso https://rarediseases.info.nih.gov/diseases/670/aneurysm-of-sinus-of-valsalva xsd:anyURI {source="GARD:0000670"} @@ -293973,8 +299211,8 @@ xref: SCTID:442652006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0162576 {source="ORDO:1070/e", source="Orphanet:1070", source="DOID:7033", source="MONDO:equivalentTo"} xref: UMLS:C2711266 {source="NCIT:C128393"} xref: UMLS:C2711591 {source="ORDO:1070/e", source="Orphanet:1070"} -is_a: MONDO:0004664 {source="DOID:7033", source="ICD10:B81.0/inferred", source="MESH:D017129/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! helminthiasis -is_a: MONDO:0005135 {source="EFO:0007146", source="MESH:D017129/inferred", source="MONDO:Redundant", source="NCIT:C128393", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0004664 {source="DOID:7033", source="ICD10:B81.0/inferred", source="MESH:D017129/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis +is_a: MONDO:0005135 {source="DOID:7033/inferred", source="EFO:0007146", source="MESH:D017129/inferred", source="MONDO:Redundant", source="NCIT:C128393", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection is_a: MONDO:0015577 {source="Orphanet:1070"} ! rare parasitic disease is_a: MONDO:0024270 {source="MESH:D017129", source="MONDO:Redundant"} ! parasitic intestinal disease intersection_of: MONDO:0005550 ! infectious disease @@ -294642,7 +299880,7 @@ xref: Orphanet:1164 {source="OMIM:103920", source="MONDO:equivalentTo"} xref: SCTID:37981002 {source="MONDO:kboom-pr-0.92/0.83/0.10", source="DOID:13166", source="MONDO:equivalentTo"} xref: UMLS:C0004031 {source="Orphanet:1164", source="NCBI:mim2gene_medline", source="DOID:13166", source="NCIT:C84547", source="ORDO:1164/e", source="MONDO:equivalentTo"} xref: UMLS:C3278302 {source="OMIM:103920"} -is_a: MONDO:0005657 {source="DOID:13166", source="EFO:0007140", source="ICD10:B44.81", source="ICD10:B44.81/inferred", source="MESH:D001229", source="MONDO:Entailed", source="NCIT:C84547", source="linkedlifedata"} ! aspergillosis +is_a: MONDO:0005657 {source="DOID:13166", source="EFO:0007140", source="ICD10:B44.81", source="ICD10:B44.81/inferred", source="MESH:D001229", source="MONDO:Entailed", source="NCIT:C84547", source="linkedlifedata", source="linkedlifedata/inferred"} ! aspergillosis is_a: MONDO:0015118 {source="Orphanet:1164"} ! rare pulmonary disease is_a: MONDO:0020028 {source="MONDO:Entailed", source="Orphanet:1164"} ! rare allergic respiratory disease intersection_of: MONDO:0005657 ! aspergillosis @@ -294661,7 +299899,7 @@ synonym: "cerebellar ataxia, autosomal recessive" EXACT [MONDO:patterns/autosoma xref: DOID:0050950 {source="MONDO:equivalentTo"} xref: Orphanet:1172 {source="MONDO:equivalentTo"} xref: UMLS:CN226644 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000557 {source="Orphanet:1172"} ! hereditary ataxia +is_a: MONDO:0000557 {source="DOID:0050950", source="Orphanet:1172"} ! hereditary ataxia is_a: MONDO:0020139 {source="Orphanet:1172"} ! early-onset ataxia with dementia is_a: MONDO:0020263 {source="Orphanet:1172"} ! spinocerebellar ataxia with oculomotor anomaly intersection_of: MONDO:0000437 ! cerebellar ataxia @@ -294724,7 +299962,7 @@ is_a: MONDO:0015120 {source="Orphanet:1183"} ! rare acquired eye disease is_a: MONDO:0015144 {source="Orphanet:1183"} ! brain inflammatory disease is_a: MONDO:0017652 {source="Orphanet:1183"} ! rare disease with myoclonus as a major feature is_a: MONDO:0018215 {source="MONDO:Entailed", source="Orphanet:1183"} ! paraneoplastic neurologic syndrome -is_a: MONDO:0021073 {source="MONDO:Redundant", source="NCIT:C4686"} ! paraneoplastic syndrome +is_a: MONDO:0021073 {source="MESH:D053578/inferred", source="MONDO:Redundant", source="NCIT:C4686"} ! paraneoplastic syndrome [Term] id: MONDO:0015248 @@ -294750,8 +299988,8 @@ xref: NCIT:C98992 {source="MONDO:equivalentTo"} xref: Orphanet:1205 {source="MONDO:equivalentTo"} xref: SCTID:23063005 {source="MONDO:kboom-pr-1.00/0.80/8.72", source="MONDO:equivalentTo"} xref: UMLS:C0344760 {source="Orphanet:1205"} -is_a: MONDO:0003767 {source="NCIT:C98992"} ! mitral valve disease -is_a: MONDO:0005453 {source="NCIT:C98992"} ! congenital heart disease +is_a: MONDO:0003767 {source="NCIT:C98992", source="linkedlifedata/inferred"} ! mitral valve disease +is_a: MONDO:0005453 {source="NCIT:C98992", source="linkedlifedata/inferred"} ! congenital heart disease is_a: MONDO:0019817 {source="Orphanet:1205"} ! congenital mitral valve insufficiency and/or stenosis [Term] @@ -294882,8 +300120,8 @@ xref: SCTID:187116001 {source="DOID:1395"} xref: SCTID:187121003 {source="DOID:1395"} xref: UMLS:C0029827 {source="DOID:1395"} xref: UMLS:C0036323 {source="NCIT:C35000", source="ORDO:1247/e", source="Orphanet:1247", source="MONDO:equivalentTo"} -is_a: MONDO:0004664 {source="DOID:1395", source="MESH:D012552/inferred", source="linkedlifedata"} ! helminthiasis -is_a: MONDO:0005135 {source="EFO:1001475", source="MESH:D012552/inferred", source="MONDO:Redundant", source="NCIT:C35000", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0004664 {source="DOID:1395", source="MESH:D012552/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis +is_a: MONDO:0005135 {source="DOID:1395/inferred", source="EFO:1001475", source="MESH:D012552/inferred", source="MONDO:Redundant", source="NCIT:C35000", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection is_a: MONDO:0015577 {source="Orphanet:1247"} ! rare parasitic disease relationship: disease_has_feature HP:0000790 ! Hematuria relationship: realized_in_response_to_stimulus NCBITaxon:6181 {source="Wikidata"} ! Schistosoma @@ -294969,8 +300207,8 @@ xref: SCTID:359799003 {source="DOID:10075"} xref: SCTID:49047003 {source="DOID:10075"} xref: UMLS:C0012561 {source="NCIT:C128391", source="DOID:10075", source="Orphanet:128", source="MONDO:equivalentTo"} xref: UMLS:C0277032 {source="ORDO:128/e", source="Orphanet:128"} -is_a: MONDO:0004664 {source="DOID:10075", source="ICD10:B70.0/inferred", source="MESH:D004169/inferred", source="linkedlifedata"} ! helminthiasis -is_a: MONDO:0005135 {source="EFO:0007238", source="MESH:D004169/inferred", source="MONDO:Redundant", source="NCIT:C128391", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0004664 {source="DOID:10075", source="ICD10:B70.0/inferred", source="MESH:D004169/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis +is_a: MONDO:0005135 {source="DOID:10075/inferred", source="EFO:0007238", source="MESH:D004169/inferred", source="MONDO:Redundant", source="NCIT:C128391", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection is_a: MONDO:0015577 {source="Orphanet:128"} ! rare parasitic disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:28844 ! Diphyllobothrium @@ -294997,7 +300235,7 @@ xref: MESH:C531609 {source="ORDO:129/e", source="Orphanet:129", source="MONDO:re xref: Orphanet:129 {source="MONDO:equivalentTo"} xref: SCTID:238731001 {source="MONDO:kboom-pr-1.00/0.79/7.95", source="MONDO:equivalentTo"} xref: UMLS:C0086873 {source="ORDO:129/e", source="Orphanet:129"} -is_a: MONDO:0004907 {source="Orphanet:129", source="linkedlifedata"} ! alopecia +is_a: MONDO:0004907 {source="Orphanet:129", source="linkedlifedata", source="linkedlifedata/inferred"} ! alopecia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4536/pseudopelade-of-brocq xsd:anyURI {source="GARD:0004536"} [Term] @@ -295090,7 +300328,7 @@ xref: SCTID:129458007 {source="DOID:0050157"} xref: SCTID:719218000 {source="MONDO:kboom-pr-0.85/0.68/0.11", source="MONDO:equivalentTo"} xref: UMLS:C0242770 {source="NCIT:C62586", source="DOID:0050157", source="MEDGEN:kboom-pr98-c99", source="Orphanet:1302", source="MONDO:equivalentTo"} is_a: MONDO:0002429 {source="DOID:0050157", source="MESH:D018549", source="Orphanet:1302", source="linkedlifedata"} ! idiopathic interstitial pneumonia -is_a: MONDO:0043905 {source="NCIT:C62586"} ! pneumonitis +is_a: MONDO:0043905 {source="NCIT:C62586", source="linkedlifedata/inferred"} ! pneumonitis relationship: disease_has_feature HP:0001824 ! Weight loss relationship: disease_has_feature HP:0003674 ! Onset relationship: disease_has_feature HP:0100699 ! Scarring @@ -295182,7 +300420,7 @@ xref: OMIM:174000 {source="MONDO:directSiblingOf", source="GARD:0000232"} xref: Orphanet:1309 {source="MONDO:equivalentTo"} xref: SCTID:236443009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.90/0.76/0.43"} xref: UMLS:C0022681 {source="Orphanet:1309", source="NCIT:C34751", source="ORDO:1309/e", source="MONDO:equivalentTo"} -is_a: MONDO:0002473 {source="MESH:D007691", source="NCIT:C34751", source="linkedlifedata"} ! cystic kidney disease +is_a: MONDO:0002473 {source="MESH:D007691", source="NCIT:C34751", source="linkedlifedata", source="linkedlifedata/inferred"} ! cystic kidney disease is_a: MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:1309", source="Orphanet:1309/inferred"} ! rare genetic developmental defect during embryogenesis is_a: MONDO:0019720 {source="Orphanet:1309"} ! non-syndromic renal or urinary tract malformation is_a: MONDO:0020030 {source="MONDO:Entailed", source="Orphanet:1309", source="Orphanet:1309/inferred"} ! rare genetic renal disease @@ -295307,7 +300545,7 @@ xref: SCTID:18121009 {source="MONDO:kboom-pr-0.90/0.75/0.60", source="MONDO:equi xref: SCTID:8247009 {source="DOID:10322"} xref: UMLS:C0005138 {source="Orphanet:133", source="DOID:10322"} xref: UMLS:C0221052 {source="Orphanet:133", source="ORDO:133/e"} -is_a: MONDO:0015926 {source="DOID:10322", source="EFO:0007168", source="MONDO:Entailed", source="Orphanet:133"} ! pneumoconiosis +is_a: MONDO:0015926 {source="DOID:10322", source="EFO:0007168", source="MESH:D001607", source="MONDO:Entailed", source="Orphanet:133"} ! pneumoconiosis intersection_of: MONDO:0015926 ! pneumoconiosis intersection_of: realized_in_response_to_stimulus CHEBI:33780 ! beryllium molecular entity @@ -295386,7 +300624,7 @@ xref: UMLS:C0206693 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo" xref: UMLS:C0238462 {source="DOID:3973", source="ORDO:1332/e", source="NCIT:C3879", source="Orphanet:1332", source="MONDO:equivalentTo"} is_a: MONDO:0002120 {source="MONDOLEX:0015277", source="NCIT:C3879"} ! neuroendocrine carcinoma is_a: MONDO:0005034 {source="DOID:3973"} ! thyroid gland follicular carcinoma -is_a: MONDO:0015075 {source="MONDO:Entailed", source="NCIT:C3879", source="Orphanet:1332"} ! thyroid gland carcinoma +is_a: MONDO:0015075 {source="DOID:3973/inferred", source="MONDO:Entailed", source="NCIT:C3879", source="Orphanet:1332"} ! thyroid gland carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location CL:0000570 ! parafollicular cell relationship: disease_arises_from_structure CL:0000570 ! parafollicular cell @@ -295454,7 +300692,7 @@ xref: OMIM:616445 {source="ORDO:1334/btnt", source="DOID:2058", source="Orphanet xref: Orphanet:1334 {source="DOID:2058", source="MONDO:equivalentTo"} xref: SCTID:234568006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2058", source="MONDO:equivalentTo"} xref: UMLS:C0006845 {source="ORDO:1334/e", source="DOID:2058", source="Orphanet:1334", source="NCIT:C34444", source="MONDO:equivalentTo"} -is_a: MONDO:0002026 {source="DOID:2058", source="MESH:D002178", source="MONDO:Redundant", source="NCIT:C34444/inferred", source="linkedlifedata"} ! candidiasis +is_a: MONDO:0002026 {source="DOID:2058", source="MESH:D002178", source="MONDO:Redundant", source="NCIT:C34444/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! candidiasis is_a: MONDO:0015578 {source="MONDO:Entailed"} ! rare mycosis is_a: MONDO:0015979 {source="Orphanet:1334"} ! genetic susceptibility to infections due to particular pathogens is_a: MONDO:0019305 {source="Orphanet:1334"} ! immune deficiency with skin involvement @@ -295484,7 +300722,7 @@ xref: OMIM:615280 {source="Orphanet:1340", source="DOID:0060233", source="ORDO:1 xref: OMIMPS:115150 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1340 {source="DOID:0060233", source="MONDO:equivalentTo"} xref: UMLS:C1275081 {source="Orphanet:1340", source="NCIT:C84617", source="ORDO:1340/e", source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84617"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060233", source="MONDO:Redundant", source="NCIT:C84617"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:1340"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:1340"} ! rare syndromic intellectual disability is_a: MONDO:0015983 {source="Orphanet:1340"} ! rare genetic syndromic intellectual disability @@ -295626,7 +300864,7 @@ xref: OMIMPS:212065 {source="DOID:5212", source="MONDO:equivalentTo"} xref: Orphanet:137 {source="DOID:5212", source="MONDO:equivalentTo"} xref: SCTID:238049009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:5212", source="MONDO:equivalentTo"} xref: UMLS:C0282577 {source="DOID:5212", source="ORDO:137/e", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:137"} -is_a: MONDO:0019214 {source="DOID:5212", source="MESH:D018981", source="MONDO:Entailed"} ! inborn carbohydrate metabolic disorder +is_a: MONDO:0019214 {source="DOID:5212", source="MESH:D018981", source="MONDO:Entailed", source="NCIT:C84615"} ! inborn carbohydrate metabolic disorder intersection_of: MONDO:0019214 ! inborn carbohydrate metabolic disorder intersection_of: disease_has_basis_in_disruption_of GO:0070085 ! glycosylation relationship: disease_has_basis_in_disruption_of GO:0070085 ! glycosylation @@ -295657,7 +300895,7 @@ xref: Orphanet:137586 {source="MONDO:equivalentTo"} xref: SCTID:9389005 {source="MONDO:kboom-pr-1.00/0.75/6.52", source="MONDO:equivalentTo"} xref: UMLS:C0019357 {source="MEDGEN:kboom-pr96-c98", source="Orphanet:137586", source="MONDO:equivalentTo"} xref: UMLS:C0022570 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"} -is_a: MONDO:0003085 {source="DOID:0080158", source="MONDO:Entailed", source="linkedlifedata"} ! keratitis +is_a: MONDO:0003085 {source="DOID:0080158", source="MONDO:Entailed", source="NCIT:C34743/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! keratitis is_a: MONDO:0015937 {source="MONDO:Redundant", source="Orphanet:137586"} ! rare inflammatory eye disease intersection_of: MONDO:0003085 ! keratitis intersection_of: realized_in_response_to_stimulus NCBITaxon:10294 ! Simplexvirus @@ -295858,7 +301096,7 @@ xref: OMIMPS:105250 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:137807 {source="DOID:0050639", source="MONDO:equivalentTo"} xref: SCTID:282834007 {source="MONDO:kboom-pr-1.00/0.80/9.44", source="MONDO:equivalentTo"} xref: UMLS:C0268397 {source="ORDO:137807/e", source="MONDO:equivalentTo", source="Orphanet:137807"} -is_a: MONDO:0019065 {source="DOID:0050639", source="MESH:C562642/inferred", source="linkedlifedata"} ! amyloidosis (disease) +is_a: MONDO:0019065 {source="DOID:0050639", source="MESH:C562642/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! amyloidosis (disease) is_a: MONDO:0019295 {source="Orphanet:137807"} ! other dermis disorder [Term] @@ -295875,7 +301113,7 @@ xref: Orphanet:137810 {source="MONDO:equivalentTo"} xref: SCTID:716704007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0546394 {source="MEDGEN:kboom-pr87-c94", source="Orphanet:137810", source="ORDO:137810/e", source="MONDO:equivalentTo"} xref: UMLS:C4274331 {source="MEDGEN:kboom-pr92-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0015301 {source="Orphanet:137810", source="linkedlifedata"} ! primary cutaneous amyloidosis +is_a: MONDO:0015301 {source="Orphanet:137810", source="linkedlifedata", source="linkedlifedata/inferred"} ! primary cutaneous amyloidosis [Term] id: MONDO:0015303 @@ -295939,7 +301177,7 @@ xref: Orphanet:137820 {source="MONDO:equivalentTo"} xref: SCTID:237117005 {source="MONDO:equivalentTo"} xref: UMLS:C0014175 {source="Orphanet:137820"} xref: UMLS:C0404545 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0005133 {source="MONDO:Entailed", source="Orphanet:137820"} ! endometriosis (disease) +is_a: MONDO:0005133 {source="MONDO:Entailed", source="Orphanet:137820", source="linkedlifedata"} ! endometriosis (disease) is_a: MONDO:0015857 {source="Orphanet:137820"} ! rare non-malformative gynecologic or obstetric disease intersection_of: MONDO:0005133 ! endometriosis (disease) intersection_of: has_modifier MONDO:0021136 ! rare @@ -296390,7 +301628,7 @@ xref: NCIT:C128378 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equiv xref: Orphanet:139417 {source="MONDO:equivalentTo"} xref: SCTID:47000000 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0270627 {source="Orphanet:139417", source="ORDO:139417/e", source="NCIT:C128378", source="MONDO:equivalentTo"} -is_a: MONDO:0002565 {source="MESH:D009188", source="NCIT:C128378", source="linkedlifedata"} ! myelitis +is_a: MONDO:0002565 {source="MESH:D009188", source="NCIT:C128378", source="linkedlifedata", source="linkedlifedata/inferred"} ! myelitis is_a: MONDO:0015141 {source="Orphanet:139417"} ! disorder of medulla oblongata [Term] @@ -296732,7 +301970,7 @@ xref: SCTID:11442006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0 xref: UMLS:C0020075 {source="NCIT:C125386"} xref: UMLS:C0027889 {source="Orphanet:140471", source="ORDO:140471/e", source="MONDO:equivalentTo"} is_a: MONDO:0002321 {source="MONDO:Entailed", source="MONDOLEX:0015364", source="OWLReasoner:2017", source="linkedlifedata"} ! sensory peripheral neuropathy -is_a: MONDO:0003847 {source="MESH:D009477/inferred", source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:140471/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:D009477/inferred", source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:140471/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0020127 {source="MONDO:Entailed", source="Orphanet:140471"} ! genetic peripheral neuropathy intersection_of: MONDO:0002321 ! sensory peripheral neuropathy intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -296975,7 +302213,10 @@ intersection_of: disease_has_location UBERON:0001456 ! face [Term] id: MONDO:0015381 name: commissural lip fistula +def: "A cysts and fistulae of the face and oral cavity that involves the labial commissure." [MONDO:design_pattern] subset: ordo_morphological_anomaly {source="Orphanet:141061"} +synonym: "cysts and fistulae of the face and oral cavity of labial commissure" EXACT [MONDO:design_pattern] +synonym: "labial commissure cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern] xref: ICD10:Q38.0 {source="ORDO:141061/ntbt", source="Orphanet:141061"} xref: Orphanet:141061 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="Orphanet:141061"} ! cysts and fistulae of the face and oral cavity @@ -296985,7 +302226,10 @@ intersection_of: disease_has_location UBERON:1000011 ! labial commissure [Term] id: MONDO:0015382 name: lower lip fistula +def: "A cysts and fistulae of the face and oral cavity that involves the lower lip." [MONDO:design_pattern] subset: ordo_morphological_anomaly {source="Orphanet:141064"} +synonym: "cysts and fistulae of the face and oral cavity of lower lip" EXACT [MONDO:design_pattern] +synonym: "lower lip cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern] xref: ICD10:Q38.0 {source="Orphanet:141064", source="ORDO:141064/ntbt"} xref: Orphanet:141064 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="Orphanet:141064"} ! cysts and fistulae of the face and oral cavity @@ -297005,9 +302249,11 @@ id: MONDO:0015384 name: digestive duplication cyst of the tongue def: "Digestive duplication cyst of the tongue is an extremely rare otorhinolaryngological malformation which occurs during early embryogenesis and is characterized by a single, and on occasion multiple, cystic lesion that is most frequently located in the anterior portion of the tongue, either deeply embedded within it or superficially on it. Depending mostly on size and location of the cyst, patients could be asymptomatic or could present a wide array of symptoms, such as varying degrees of respiratory and feeding difficulties, lingual swelling and protrusion, dysphagia, and more rarely, recurrent bleeding or brownish discharge from a lingual sinus." [Orphanet:141071] subset: ordo_morphological_anomaly {source="Orphanet:141071"} +synonym: "cysts and fistulae of the face and oral cavity of tongue" EXACT [MONDO:design_pattern] synonym: "enteric duplication cyst of the tongue" EXACT [Orphanet:141071] synonym: "foregut duplication cyst of the tongue" EXACT [Orphanet:141071] synonym: "gastric duplication cyst of the tongue" EXACT [Orphanet:141071] +synonym: "tongue cysts and fistulae of the face and oral cavity" EXACT [MONDO:design_pattern] xref: ICD10:Q38.3 {source="ORDO:141071/ntbt", source="Orphanet:141071"} xref: Orphanet:141071 {source="MONDO:equivalentTo"} is_a: MONDO:0015476 {source="Orphanet:141071"} ! cysts and fistulae of the face and oral cavity @@ -297484,7 +302730,7 @@ xref: ICD10:Q87.0 {source="ORDO:141327/ntbt", source="Orphanet:141327", source=" xref: MESH:C548034 {source="ORDO:141327/e", source="Orphanet:141327", source="MONDO:equivalentTo"} xref: Orphanet:141327 {source="MONDO:equivalentTo"} xref: UMLS:C2932679 {source="ORDO:141327/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:141327", source="MONDO:equivalentTo"} -is_a: MONDO:0015375 {source="Orphanet:141327"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="MESH:C548034", source="Orphanet:141327"} ! orofaciodigital syndrome [Term] id: MONDO:0015422 @@ -297507,7 +302753,7 @@ xref: ICD10:Q87.0 {source="Orphanet:141330", source="ORDO:141330/ntbt", source=" xref: MESH:C548035 {source="ORDO:141330/e", source="Orphanet:141330", source="MONDO:equivalentTo"} xref: Orphanet:141330 {source="MONDO:equivalentTo"} xref: UMLS:C2932680 {source="ORDO:141330/e", source="Orphanet:141330", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015375 {source="Orphanet:141330"} ! orofaciodigital syndrome +is_a: MONDO:0015375 {source="MESH:C548035", source="Orphanet:141330"} ! orofaciodigital syndrome [Term] id: MONDO:0015423 @@ -297632,7 +302878,7 @@ xref: SCTID:47017007 {source="MONDO:equivalentTo"} xref: UMLS:C0265395 {source="Orphanet:1437", source="ORDO:1437/e"} xref: UMLS:C1519099 {source="Orphanet:1437", source="ORDO:1437/e"} xref: UMLS:CN036412 {source="MONDO:equivalentTo"} -is_a: MONDO:0018186 {source="MESH:C535361", source="Orphanet:1437"} ! ring chromosome +is_a: MONDO:0018186 {source="MESH:C535361", source="NCIT:C36474", source="Orphanet:1437"} ! ring chromosome [Term] id: MONDO:0015431 @@ -297913,6 +303159,7 @@ name: autosomal dominant coarctation of aorta def: "Autosomal dominant form of aorta coarctation." [MONDO:patterns/autosomal_dominant] subset: ordo_clinical_subtype {source="Orphanet:1455"} synonym: "aorta coarctation, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] +synonym: "autosomal dominant aorta coarctation" EXACT [MONDO:design_pattern] xref: ICD10:Q25.1 {source="ORDO:1455/ntbt", source="Orphanet:1455", source="MONDO:subClassOf"} xref: MESH:C531623 {source="ORDO:1455/e", source="Orphanet:1455"} xref: Orphanet:1455 {source="MONDO:equivalentTo"} @@ -298067,7 +303314,7 @@ xref: OMIMPS:135900 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:1465 {source="MONDO:equivalentTo"} xref: SCTID:10007009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1925", source="MONDO:equivalentTo"} xref: UMLS:C0265338 {source="ORDO:1465/e", source="NCIT:C35321", source="Orphanet:1465", source="DOID:1925", source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35321"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:1925", source="MONDO:Redundant", source="NCIT:C35321"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:1465"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:1465"} ! rare syndromic intellectual disability is_a: MONDO:0015983 {source="Orphanet:1465"} ! rare genetic syndromic intellectual disability @@ -298136,8 +303383,8 @@ xref: NCIT:C116816 {source="MONDO:kboom-pr-0.93/0.83/0.55", source="MONDO:equiva xref: Orphanet:1482 {source="MONDO:equivalentTo"} xref: SCTID:231858009 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0339166 {source="Orphanet:1482", source="ORDO:1482/e"} -is_a: MONDO:0003799 {source="MONDO:Redundant", source="NCIT:C116816/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! conjunctivitis (disease) -is_a: MONDO:0004277 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! gonorrhea +is_a: MONDO:0003799 {source="MONDO:Redundant", source="NCIT:C116816/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! conjunctivitis (disease) +is_a: MONDO:0004277 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonorrhea is_a: MONDO:0006668 {source="MONDO:Entailed", source="NCIT:C116816"} ! bacterial conjunctivitis is_a: MONDO:0015937 {source="Orphanet:1482"} ! rare inflammatory eye disease intersection_of: MONDO:0005550 ! infectious disease @@ -298268,13 +303515,13 @@ xref: UMLS:C3647449 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo" xref: UMLS:C3665551 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:CN199582 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C3871/inferred", source="OWLReasoner:Elk-2018-03-06"} ! head and neck carcinoma -is_a: MONDO:0004821 {source="MESH:C538339/inferred", source="MONDO:Redundant", source="OWLReasoner:2017"} ! nasopharyngeal disease +is_a: MONDO:0004821 {source="DOID:9261", source="MESH:C538339/inferred", source="MONDO:Redundant", source="NCIT:C3871/inferred", source="OWLReasoner:2017", source="linkedlifedata/inferred"} ! nasopharyngeal disease is_a: MONDO:0005517 {source="DOID:9261", source="MESH:C538339/inferred", source="MONDO:0015459/inferred", source="MONDO:Redundant", source="MONDOLEX:0015459/inferred", source="NCIT:C3871/inferred"} ! pharynx cancer is_a: MONDO:0005627 {source="MONDO:Redundant", source="NCIT:C3871/inferred", source="OWLReasoner:Elk-2018-01-05"} ! head and neck cancer is_a: MONDO:0017344 {source="Orphanet:150"} ! Epstein-Barr virus-associated carcinoma is_a: MONDO:0020034 {source="Orphanet:150"} ! rare respiratory tumor is_a: MONDO:0020035 {source="Orphanet:150"} ! rare otorhinolaryngologic tumor -is_a: MONDO:0021315 {source="MONDO:Entailed", source="MONDOLEX:0015459", source="NCIT:C3871", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! malignant tumor of nasopharynx +is_a: MONDO:0021315 {source="MONDO:Entailed", source="MONDOLEX:0015459", source="NCIT:C3871", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant tumor of nasopharynx is_a: MONDO:0021345 {source="MONDO:Entailed", source="NCIT:C3871", source="OWLReasoner:Elk-2018-01-09"} ! carcinoma of pharynx intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001728 ! nasopharynx @@ -298563,8 +303810,8 @@ xref: SCTID:58777003 {source="DOID:1733"} xref: SCTID:66160001 {source="MONDO:kboom-pr-0.92/0.77/0.82", source="MONDO:equivalentTo"} xref: UMLS:C0010418 {source="NCIT:C128408", source="Orphanet:1549", source="ORDO:1549/e", source="DOID:1733", source="MONDO:equivalentTo"} xref: UMLS:C0520796 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0002428 {source="NCIT:C128408"} ! protozoa infectious disease -is_a: MONDO:0005707 {source="DOID:1733", source="MESH:D003457", source="linkedlifedata"} ! coccidiosis +is_a: MONDO:0002428 {source="DOID:1733/inferred", source="MESH:D003457/inferred", source="NCIT:C128408"} ! protozoa infectious disease +is_a: MONDO:0005707 {source="DOID:1733", source="MESH:D003457", source="linkedlifedata", source="linkedlifedata/inferred"} ! coccidiosis is_a: MONDO:0015577 {source="MONDO:Entailed", source="Orphanet:1549"} ! rare parasitic disease is_a: MONDO:0024270 {source="MESH:D003457", source="MONDO:Entailed"} ! parasitic intestinal disease intersection_of: MONDO:0000001 ! disease or disorder @@ -298692,7 +303939,7 @@ xref: SCTID:59051007 {source="MONDO:kboom-pr-0.94/0.77/1.53", source="DOID:10079 xref: UMLS:C0010678 {source="ORDO:1560/e", source="Orphanet:1560", source="NCIT:C34520", source="DOID:10079", source="MONDO:equivalentTo"} xref: UMLS:C0338437 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0000367 {source="DOID:10079", source="MESH:D003551"} ! taeniasis -is_a: MONDO:0005135 {source="EFO:0007231", source="MESH:D003551/inferred", source="MONDO:Redundant", source="NCIT:C34520", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0005135 {source="DOID:10079/inferred", source="EFO:0007231", source="MESH:D003551/inferred", source="MONDO:Redundant", source="NCIT:C34520", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection is_a: MONDO:0015577 {source="Orphanet:1560"} ! rare parasitic disease [Term] @@ -298739,7 +303986,7 @@ xref: SCTID:193846003 {source="DOID:10126"} xref: SCTID:267733008 {source="DOID:10126"} xref: SCTID:65636009 {source="DOID:10126", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0022578 {source="DOID:10126", source="ORDO:156071/e", source="Orphanet:156071", source="NCIT:C26806", source="MONDO:equivalentTo"} -is_a: MONDO:0000942 {source="DOID:10126", source="MESH:D007640", source="NCIT:C26806/inferred", source="linkedlife/inferred"} ! corneal disease +is_a: MONDO:0000942 {source="DOID:10126", source="MESH:D007640", source="NCIT:C26806/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! corneal disease is_a: MONDO:0015107 {source="Orphanet:156071"} ! rare genetic eye disease [Term] @@ -299259,7 +304506,7 @@ xref: UMLS:C0206732 {source="NCIT:C3800", source="ORDO:157791/e", source="MONDO: is_a: MONDO:0002095 {source="MESH:D018323/inferred", source="NCIT:C3800"} ! vascular cancer is_a: MONDO:0016228 {source="Orphanet:157791"} ! rare vascular tumor is_a: MONDO:0018729 {source="Orphanet:157791"} ! rare genetic vascular tumor -is_a: MONDO:0021121 {source="NCIT:C3800", source="linkedlifedata"} ! hemangioendothelioma +is_a: MONDO:0021121 {source="MESH:D018323", source="NCIT:C3800", source="linkedlifedata"} ! hemangioendothelioma [Term] id: MONDO:0015524 @@ -299524,6 +304771,7 @@ synonym: "hemophagocytic lymphohistiocytosis" EXACT [MONDO:0000247, Orphanet:158 synonym: "hemophagocytic lymphohistiocytosis" RELATED [NCIT:C34792] synonym: "hemophagocytic syndrome" EXACT [MONDO:0021051, NCIT:C35439] synonym: "HLH" EXACT [GARD:0006589, Orphanet:158032] +synonym: "HPS" EXACT [DOID:0050120] xref: COHD:439789 {source="MONDO:equivalentTo"} xref: DOID:0050120 {source="MONDO:equivalentTo"} xref: GARD:0006589 {source="MONDO:equivalentTo"} @@ -299686,6 +304934,7 @@ name: suprabasal epidermolysis bullosa simplex def: "A form of epidermolysis bullosa simplex in which blistering occurs above the basal keratinocytes." [https://www.ncbi.nlm.nih.gov/books/NBK1369/, MONDO:cjm] subset: ordo_group_of_disorders {source="Orphanet:158661"} synonym: "epidermis suprabasal layer epidermolysis bullosa simplex" EXACT [MONDO:patterns/location] +synonym: "epidermolysis bullosa simplex of epidermis suprabasal layer" EXACT [MONDO:design_pattern] xref: ICD10:Q81.0 {source="ORDO:158661/attributed", source="ORDO:158661/ntbt", source="MONDO:subClassOf", source="Orphanet:158661"} xref: Orphanet:158661 {source="MONDO:equivalentTo"} xref: UMLS:C4511300 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -299698,6 +304947,7 @@ id: MONDO:0015551 name: basal epidermolysis bullosa simplex def: "A form of epidermolysis bullosa simplex in which blistering occurs within the basal keratinocytes." [https://www.ncbi.nlm.nih.gov/books/NBK1369/, MONDO:cjm] subset: ordo_group_of_disorders {source="Orphanet:158665"} +synonym: "epidermolysis bullosa simplex of stratum basale of epidermis" EXACT [MONDO:design_pattern] synonym: "stratum basale of epidermis epidermolysis bullosa simplex" EXACT [MONDO:patterns/location] xref: ICD10:Q81.0 {source="Orphanet:158665", source="ORDO:158665/ntbt", source="MONDO:subClassOf", source="ORDO:158665/attributed"} xref: Orphanet:158665 {source="MONDO:equivalentTo"} @@ -299870,7 +305120,7 @@ xref: UMLS:C2931179 {source="DOID:0111157", source="ORDO:160/e", source="MEDGEN: xref: UMLS:CN199886 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015157 {source="Orphanet:160"} ! human herpesvirus 8-related disorder is_a: MONDO:0015757 {source="Orphanet:160"} ! lymphoid hemopathy -is_a: MONDO:0016537 {source="DOID:0111157"} ! lymphoproliferative syndrome +is_a: MONDO:0016537 {source="DOID:0111157", source="NCIT:C3056/inferred"} ! lymphoproliferative syndrome [Term] id: MONDO:0015565 @@ -300222,7 +305472,7 @@ xref: SCTID:445014002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0338430 {source="Orphanet:163895", source="NCIT:C4350"} is_a: MONDO:0015588 {source="MONDO:Entailed", source="MONDOLEX:0015589", source="Orphanet:163895", source="linkedlifedata"} ! limbic encephalitis is_a: MONDO:0018215 {source="MONDO:Entailed", source="Orphanet:163895"} ! paraneoplastic neurologic syndrome -is_a: MONDO:0021073 {source="MONDO:Redundant", source="NCIT:C4350", source="linkedlifedata"} ! paraneoplastic syndrome +is_a: MONDO:0021073 {source="MONDO:Redundant", source="NCIT:C4350", source="linkedlifedata", source="linkedlifedata/inferred"} ! paraneoplastic syndrome intersection_of: MONDO:0015588 ! limbic encephalitis intersection_of: MONDO:0018215 ! paraneoplastic neurologic syndrome @@ -300484,7 +305734,7 @@ xref: ICD10:D61.2 {source="Orphanet:164823", source="ORDO:164823/btnt"} xref: Orphanet:164823 {source="MONDO:equivalentTo"} xref: SCTID:55907008 {source="MONDO:equivalentTo"} xref: UMLS:C0271907 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015909 {source="Orphanet:164823"} ! aplastic anemia +is_a: MONDO:0015909 {source="Orphanet:164823", source="linkedlifedata"} ! aplastic anemia intersection_of: MONDO:0015909 ! aplastic anemia intersection_of: has_modifier MONDO:0021141 ! acquired @@ -300494,6 +305744,7 @@ name: neutral lipid storage disease def: "Neutral lipid storage disease (NLSD) refers to a group of diseases characterized by a deficit in the degradation of cytoplasmic triglycerides and their accumulation in cytoplasmic lipid vacuoles in most tissues of the body. The group is heterogeneous: currently cases of NLSD with icthyosis (NLSDI/Dorfman-Chanarin disease; see this term) and NLSD with myopathy (NLSDM/neutral lipid storage myopathy; see this term) can be distinguished." [Orphanet:165] comment: Editor note: DOID:0050729 and wikipedia treat CD-syndrome and NLSD as one, but we follow orphanet is placing CD as a subtype. subset: ordo_group_of_disorders {source="Orphanet:165"} +synonym: "Chanarin-Dorfman syndrome" EXACT [DOID:0050729] synonym: "lipidosis with triglycerid storage disease" RELATED [GARD:0003262] synonym: "lipidosis with triglyceride storage disease" EXACT [Orphanet:165] xref: DOID:0050729 {source="MONDO:equivalentTo"} @@ -300505,7 +305756,7 @@ xref: UMLS:C0268238 {source="Orphanet:165", source="ORDO:165/e"} xref: UMLS:CN199983 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0016117 {source="Orphanet:165"} ! muscular lipidosis is_a: MONDO:0018120 {source="Orphanet:165"} ! disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement -is_a: MONDO:0019245 {source="MONDO:cjm"} ! lysosomal lipid storage disorder +is_a: MONDO:0019245 {source="DOID:0050729", source="MONDO:cjm"} ! lysosomal lipid storage disorder [Term] id: MONDO:0015612 @@ -300545,7 +305796,7 @@ xref: UMLS:C1845167 {source="DOID:0050699", source="MONDO:superClassOf"} xref: UMLS:C1845168 {source="NCIT:C123260"} xref: UMLS:C1848336 {source="DOID:0050699"} xref: UMLS:CN239269 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MESH:D057973/inferred", source="MONDO:Redundant", source="NCIT:C123260", source="Orphanet:1652/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:D057973/inferred", source="MONDO:Redundant", source="NCIT:C123260", source="Orphanet:1652/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0006510 {source="DOID:0050699", source="MESH:D057973"} ! renal tubular transport disease is_a: MONDO:0015958 {source="OWLReasoner:Elk-2018-01-20", source="Orphanet:1652/inferred"} ! rare genetic bone disease is_a: MONDO:0015962 {source="Orphanet:1652", source="Orphanet:1652/inferred"} ! inherited renal tubular disease @@ -300570,7 +305821,7 @@ xref: Orphanet:1653 {source="MONDO:equivalentTo"} xref: SCTID:109492001 {source="DOID:701", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: SCTID:45742009 {source="DOID:701"} xref: UMLS:C0011430 {source="DOID:701", source="Orphanet:1653", source="ORDO:1653/e"} -is_a: MONDO:0002220 {source="DOID:701"} ! teeth hard tissue disease +is_a: MONDO:0002220 {source="DOID:701", source="linkedlifedata"} ! tooth hard tissue disease is_a: MONDO:0015668 {source="Orphanet:1653"} ! hereditary dentin defect [Term] @@ -300599,7 +305850,7 @@ xref: SCTID:156354007 {source="DOID:8505"} xref: SCTID:200899006 {source="DOID:8505"} xref: UMLS:C0011608 {source="NCIT:C26742", source="DOID:8505", source="Orphanet:1656", source="ORDO:1656/e", source="MONDO:equivalentTo"} xref: Wikipedia:Dermatitis_herpetiformis {source="EFO:1000684"} -is_a: MONDO:0002406 {source="MESH:D003874", source="MONDO:Redundant", source="NCIT:C26742"} ! dermatitis +is_a: MONDO:0002406 {source="DOID:8505/inferred", source="MESH:D003874", source="MONDO:Redundant", source="NCIT:C26742"} ! dermatitis is_a: MONDO:0019337 {source="DOID:8505", source="EFO:1000684", source="Orphanet:1656"} ! autoimmune bullous skin disease [Term] @@ -300751,7 +306002,7 @@ xref: SCTID:193158000 {source="DOID:10595"} xref: SCTID:193162006 {source="DOID:10595"} xref: SCTID:50548001 {source="DOID:10595"} xref: UMLS:C0007959 {source="NCIT:C75467", source="Orphanet:166", source="DOID:10595", source="MONDO:equivalentTo", source="ORDO:166/e"} -is_a: MONDO:0005244 {source="MONDO:Redundant", source="NCIT:C75467"} ! peripheral neuropathy +is_a: MONDO:0005244 {source="DOID:10595/inferred", source="MONDO:Redundant", source="NCIT:C75467"} ! peripheral neuropathy is_a: MONDO:0019056 {source="DOID:10595", source="MESH:D002607/inferred"} ! neuromuscular disease is_a: MONDO:0020127 {source="Orphanet:166"} ! genetic peripheral neuropathy @@ -300782,7 +306033,7 @@ xref: SCTID:359714009 {source="MONDO:kboom-pr-0.88/0.76/0.12", source="MONDO:equ xref: UMLS:C1282968 {source="Orphanet:166084", source="ORDO:166084/e", source="NCIT:C131686", source="MONDO:equivalentTo"} is_a: MONDO:0013304 {source="MONDOLEX:0015628", source="Orphanet:166084"} ! von Willebrand disease 2 is_a: MONDO:0019565 {source="MONDO:0015628/inferred", source="MONDO:Redundant", source="MONDOLEX:0015628/inferred", source="NCIT:C131686", source="Orphanet:166084/inferred", source="linkedlifedata"} ! hereditary von Willebrand disease -is_a: MONDO:0024574 {source="NCIT:C131686"} ! von Willebrand disease (hereditary or acquired) +is_a: MONDO:0024574 {source="NCIT:C131686", source="linkedlifedata/inferred"} ! von Willebrand disease (hereditary or acquired) property_value: confidence "3.801097393689986" xsd:double [Term] @@ -300799,7 +306050,7 @@ xref: SCTID:359721009 {source="MONDO:kboom-pr-0.88/0.76/0.12", source="MONDO:equ xref: UMLS:C1282971 {source="Orphanet:166087", source="ORDO:166087/e", source="NCIT:C131687", source="MONDO:equivalentTo"} is_a: MONDO:0013304 {source="MONDOLEX:0015629", source="Orphanet:166087"} ! von Willebrand disease 2 is_a: MONDO:0019565 {source="MONDO:0015629/inferred", source="MONDO:Redundant", source="MONDOLEX:0015629/inferred", source="NCIT:C131687", source="Orphanet:166087/inferred", source="linkedlifedata"} ! hereditary von Willebrand disease -is_a: MONDO:0024574 {source="NCIT:C131687"} ! von Willebrand disease (hereditary or acquired) +is_a: MONDO:0024574 {source="NCIT:C131687", source="linkedlifedata", source="linkedlifedata/inferred"} ! von Willebrand disease (hereditary or acquired) property_value: confidence "3.801097393689986" xsd:double [Term] @@ -300817,7 +306068,7 @@ xref: SCTID:359729006 {source="MONDO:kboom-pr-0.88/0.75/0.12", source="MONDO:equ xref: UMLS:C1282974 {source="NCIT:C131688", source="Orphanet:166090", source="ORDO:166090/e", source="MONDO:equivalentTo"} is_a: MONDO:0013304 {source="MONDOLEX:0015630", source="Orphanet:166090"} ! von Willebrand disease 2 is_a: MONDO:0019565 {source="MONDO:0015630/inferred", source="MONDO:Redundant", source="MONDOLEX:0015630/inferred", source="NCIT:C131688", source="Orphanet:166090/inferred", source="linkedlifedata"} ! hereditary von Willebrand disease -is_a: MONDO:0024574 {source="NCIT:C131688"} ! von Willebrand disease (hereditary or acquired) +is_a: MONDO:0024574 {source="NCIT:C131688", source="linkedlifedata"} ! von Willebrand disease (hereditary or acquired) property_value: confidence "3.801097393689986" xsd:double [Term] @@ -300834,7 +306085,7 @@ xref: SCTID:359732009 {source="MONDO:kboom-pr-0.88/0.75/0.12", source="MONDO:equ xref: UMLS:C1282975 {source="NCIT:C131689", source="Orphanet:166093", source="ORDO:166093/e", source="MONDO:equivalentTo"} is_a: MONDO:0013304 {source="MONDOLEX:0015631", source="Orphanet:166093"} ! von Willebrand disease 2 is_a: MONDO:0019565 {source="MONDO:0015631/inferred", source="MONDO:Redundant", source="MONDOLEX:0015631/inferred", source="NCIT:C131689", source="Orphanet:166093/inferred", source="linkedlifedata"} ! hereditary von Willebrand disease -is_a: MONDO:0024574 {source="NCIT:C131689"} ! von Willebrand disease (hereditary or acquired) +is_a: MONDO:0024574 {source="NCIT:C131689", source="linkedlifedata"} ! von Willebrand disease (hereditary or acquired) property_value: confidence "3.801097393689986" xsd:double [Term] @@ -301023,7 +306274,7 @@ xref: ICD10:G40.8 {source="ORDO:166418/ntbt", source="Orphanet:166418"} xref: Orphanet:166418 {source="MONDO:equivalentTo"} xref: SCTID:230450001 {source="MONDO:equivalentTo"} xref: UMLS:C0393725 {source="Orphanet:166418", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo", source="ORDO:166418/e"} -is_a: MONDO:0017768 {source="MONDO:Entailed", source="Orphanet:166418"} ! reflex epilepsy +is_a: MONDO:0017768 {source="MONDO:Entailed", source="Orphanet:166418", source="linkedlifedata"} ! reflex epilepsy intersection_of: MONDO:0017768 ! reflex epilepsy intersection_of: realized_in_response_to GO:0042755 ! eating behavior @@ -301266,7 +306517,7 @@ xref: Orphanet:167635 {source="MONDO:equivalentTo"} xref: SCTID:402468007 {source="MONDO:kboom-pr-0.87/0.68/0.63", source="MONDO:equivalentTo"} xref: UMLS:C0263390 {source="ORDO:167635/e", source="Orphanet:167635", source="NCIT:C85061", source="MONDO:equivalentTo"} xref: UMLS:CN200092 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0002523 {source="MESH:D053718", source="MONDO:Redundant", source="linkedlifedata"} ! cutaneous mucinosis +is_a: MONDO:0002523 {source="MESH:D053718", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! cutaneous mucinosis is_a: MONDO:0018432 {source="MONDO:Entailed", source="MONDOLEX:0015665", source="Orphanet:167635", source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/", source="linkedlifedata"} ! lichen myxedematosus intersection_of: MONDO:0018432 ! lichen myxedematosus intersection_of: has_modifier PATO:0001566 ! distributed @@ -301379,11 +306630,11 @@ xref: OMIM:610951 {source="ORDO:168491/btnt", source="Orphanet:168491", source=" xref: Orphanet:168491 {source="MONDO:equivalentTo"} xref: SCTID:14637005 {source="MONDO:equivalentTo"} xref: UMLS:C0022340 {source="ORDO:168491/e", source="Orphanet:168491"} -is_a: MONDO:0002561 {source="PMID:21723623"} ! lysosomal storage disease -is_a: MONDO:0016295 {source="Orphanet:168491"} ! neuronal ceroid lipofuscinosis +is_a: MONDO:0002561 {source="Orphanet:168491/inferred", source="PMID:21723623", source="linkedlifedata/inferred"} ! lysosomal storage disease +is_a: MONDO:0016295 {source="Orphanet:168491", source="linkedlifedata/inferred"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0020074 {source="Orphanet:168491"} ! progressive myoclonic epilepsy relationship: disease_has_basis_in_disruption_of GO:0008240 {source="PMID:21723623"} ! tripeptidyl-peptidase activity -relationship: excluded_subClassOf MONDO:0019261 {source="linkedlife"} ! infantile neuronal ceroid lipofuscinosis +relationship: excluded_subClassOf MONDO:0019261 {source="linkedlifedata"} ! infantile neuronal ceroid lipofuscinosis [Term] id: MONDO:0015675 @@ -301404,18 +306655,9 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1891/distomat [Term] id: MONDO:0015676 -name: hyperandrogenism due to cortisone reductase deficiency -subset: ordo_malformation_syndrome {source="Orphanet:168588"} -synonym: "11-beta-hydroxysteroid dehydrogenase deficiency type 1" EXACT [Orphanet:168588] -xref: ICD10:E25.8 {source="ORDO:168588/ntbt", source="ORDO:168588/attributed", source="Orphanet:168588"} -xref: OMIM:604931 {source="Orphanet:168588", source="ORDO:168588/btnt", source="MONDO:superClassOf"} -xref: OMIM:614662 {source="Orphanet:168588", source="ORDO:168588/btnt", source="MONDO:superClassOf"} -xref: Orphanet:168588 {source="MONDO:equivalentTo"} -xref: UMLS:C1291245 {source="Orphanet:168588"} -xref: UMLS:CN200166 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015860 {source="MONDO:Redundant", source="Orphanet:168588"} ! anomaly of puberty or/and menstrual cycle -is_a: MONDO:0015898 {source="Orphanet:168588"} ! adrenogenital syndrome -is_a: MONDO:0016072 {source="MONDO:Entailed", source="Orphanet:168588"} ! anomaly of puberty or/and menstrual cycle of genetic origin +name: obsolete hyperandrogenism due to cortisone reductase deficiency +is_obsolete: true +replaced_by: MONDO:0000193 [Term] id: MONDO:0015677 @@ -301624,10 +306866,10 @@ xref: SCTID:419455006 {source="MONDO:equivalentTo"} xref: UMLS:C0014457 {source="DOID:999"} xref: UMLS:C1540912 {source="ORDO:168956/e", source="NCIT:C27038", source="Orphanet:168956", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0015691", source="NCIT:C27038"} ! syndromic disease -is_a: MONDO:0004805 {source="DOID:999", source="MESH:D017681/inferred"} ! leukocyte disease +is_a: MONDO:0004805 {source="DOID:999", source="MESH:D017681/inferred", source="linkedlifedata/inferred"} ! leukocyte disease is_a: MONDO:0016345 {source="Orphanet:168956"} ! non-familial restrictive cardiomyopathy is_a: MONDO:0020076 {source="Orphanet:168956"} ! myeloproliferative neoplasm -is_a: MONDO:0044972 {source="linkedlife"} ! eosinophil disease +is_a: MONDO:0044972 {source="linkedlifedata"} ! eosinophil disease intersection_of: MONDO:0002254 ! syndromic disease intersection_of: disease_has_major_feature HP:0001880 ! Eosinophilia @@ -301910,7 +307152,7 @@ synonym: "non-telomeric trisomy 10q" EXACT [Orphanet:1695] xref: ICD10:Q92.3 {source="ORDO:1695/attributed", source="Orphanet:1695", source="ORDO:1695/ntbt"} xref: Orphanet:1695 {source="MONDO:equivalentTo"} xref: UMLS:C2936831 {source="Orphanet:1695", source="ORDO:1695/e"} -is_a: MONDO:0016961 ! partial duplication of the long arm of chromosome 10 +is_a: MONDO:0016961 {source="Orphanet:1695"} ! partial duplication of the long arm of chromosome 10 is_a: MONDO:0020226 {source="Orphanet:1695"} ! chromosomal anomaly with cataract [Term] @@ -301997,7 +307239,7 @@ xref: ICD10:D66 {source="ORDO:169802/attributed", source="Orphanet:169802", sour xref: Orphanet:169802 {source="MONDO:equivalentTo"} xref: SCTID:16872008 {source="MONDO:kboom-pr-1.00/0.81/10.53", source="MONDO:equivalentTo"} xref: UMLS:C0272322 {source="Orphanet:169802", source="ORDO:169802/e", source="MONDO:equivalentTo"} -is_a: MONDO:0010602 {source="MONDOLEX:0015719", source="Orphanet:169802", source="linkedlifedata"} ! hemophilia A +is_a: MONDO:0010602 {source="MONDOLEX:0015719", source="Orphanet:169802", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemophilia A [Term] id: MONDO:0015720 @@ -302022,7 +307264,7 @@ xref: ICD10:D66 {source="ORDO:169808/ntbt", source="ORDO:169808/attributed", sou xref: Orphanet:169808 {source="MONDO:equivalentTo"} xref: SCTID:26029002 {source="MONDO:kboom-pr-1.00/0.81/10.53", source="MONDO:equivalentTo"} xref: UMLS:C0272324 {source="ORDO:169808/e", source="Orphanet:169808", source="MONDO:equivalentTo"} -is_a: MONDO:0010602 {source="MONDOLEX:0015721", source="Orphanet:169808", source="linkedlifedata"} ! hemophilia A +is_a: MONDO:0010602 {source="MONDOLEX:0015721", source="Orphanet:169808", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemophilia A [Term] id: MONDO:0015722 @@ -302406,6 +307648,7 @@ id: MONDO:0015746 name: male infertility due to globozoospermia def: "Male infertility due to globozoospermia is a male infertility due to sperm disorder characterized by the presence, in sperm, of a large majority of round-headed spermatozoa that lack the acrosome and have an aberrant nuclear membrane and midpiece defects. The acrosomeless spermatozoa is not able to penetrate the zona pellucida and thus fertilization failures, even with intracytoplasmic spem injection, are frequent." [Orphanet:171709] subset: ordo_clinical_subtype {source="Orphanet:171709"} +synonym: "globozoospermia" RELATED [DOID:0111156] synonym: "male infertility due to globozoospermia" EXACT [DOID:0111156] synonym: "Male infertility due to round-headed spermatozoa" EXACT [Orphanet:171709] synonym: "male infertility due to round-headed spermatozoa" EXACT [DOID:0111156] @@ -302606,7 +307849,7 @@ xref: NCIT:C3466 {source="exact-label-match", source="MONDO:equivalentTo"} xref: Orphanet:171918 {source="MONDO:equivalentTo"} xref: SCTID:109978004 {source="MONDO:kboom-pr-1.00/0.80/9.19", source="MONDO:equivalentTo"} xref: UMLS:C0079772 {source="NCIT:C3466", source="ORDO:171918/e", source="Orphanet:171918", source="MONDO:equivalentTo"} -is_a: MONDO:0018908 {source="MONDOLEX:0015760", source="NCIT:C3466", source="Orphanet:171918"} ! non-Hodgkin lymphoma +is_a: MONDO:0018908 {source="MESH:D016399", source="MONDOLEX:0015760", source="NCIT:C3466", source="Orphanet:171918"} ! non-Hodgkin lymphoma relationship: disease_arises_from_structure CL:0000084 ! T cell [Term] @@ -303176,7 +308419,7 @@ xref: MESH:D055371 {source="MONDO:ontobio", source="ORDO:178320/e", source="MOND xref: Orphanet:178320 {source="MONDO:equivalentTo"} xref: SCTID:315345002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="EFO:0004610"} xref: UMLS:C0242488 {source="ORDO:178320/e", source="Orphanet:178320"} -is_a: MONDO:0005275 {source="EFO:0004610", source="MESH:D055371/inferred", source="linkedlife/inferred"} ! lung disease +is_a: MONDO:0005275 {source="EFO:0004610", source="MESH:D055371/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! lung disease is_a: MONDO:0015118 {source="Orphanet:178320"} ! rare pulmonary disease [Term] @@ -303248,7 +308491,7 @@ xref: OMIMPS:607326 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:178355 {source="DOID:0060247", source="MONDO:equivalentTo"} xref: SCTID:715862006 {source="MONDO:equivalentTo"} xref: UMLS:C1846431 {source="DOID:0060247", source="Orphanet:178355"} -is_a: MONDO:0005516 {source="DOID:0060247", source="MESH:C564589"} ! osteochondrodysplasia +is_a: MONDO:0005516 {source="DOID:0060247", source="DOID:0060247/inferred", source="MESH:C564589"} ! osteochondrodysplasia is_a: MONDO:0016761 {source="Orphanet:178355"} ! spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10620/smith-mccort-dysplasia xsd:anyURI {source="GARD:0010620"} @@ -303323,7 +308566,7 @@ xref: NCIT:C128342 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equiv xref: Orphanet:178475 {source="MONDO:equivalentTo"} xref: SCTID:398530003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1306794 {source="ORDO:178475/e", source="MONDO:equivalentTo", source="NCIT:C128342", source="Orphanet:178475"} -is_a: MONDO:0005498 {source="MONDO:Redundant", source="NCIT:C128342", source="Orphanet:178475/inferred", source="linkedlifedata"} ! botulism +is_a: MONDO:0005498 {source="DOID:0050353", source="MONDO:Redundant", source="NCIT:C128342", source="Orphanet:178475/inferred", source="linkedlifedata"} ! botulism is_a: MONDO:0016468 {source="Orphanet:178475"} ! toxin-mediated infectious botulism relationship: realized_in_response_to_stimulus NCBITaxon:1491 {source="Wikidata"} ! Clostridium botulinum relationship: realized_in_response_to_stimulus NCBITaxon:36826 ! Clostridium botulinum A @@ -303347,7 +308590,7 @@ xref: NCIT:C128343 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equiv xref: Orphanet:178478 {source="MONDO:equivalentTo"} xref: SCTID:414488002 {source="MONDO:kboom-pr-1.00/0.91/29.31", source="MONDO:equivalentTo"} xref: UMLS:C0238027 {source="ORDO:178478/e", source="Orphanet:178478", source="NCIT:C128343", source="MONDO:equivalentTo"} -is_a: MONDO:0005498 {source="MONDO:Redundant", source="NCIT:C128343", source="Orphanet:178478/inferred"} ! botulism +is_a: MONDO:0005498 {source="DOID:0050354", source="MONDO:Redundant", source="NCIT:C128343", source="Orphanet:178478/inferred"} ! botulism is_a: MONDO:0015805 {source="Orphanet:178478"} ! intestinal botulism relationship: disease_has_feature HP:0001254 ! Lethargy relationship: disease_has_feature HP:0001324 ! Muscle weakness @@ -303385,6 +308628,7 @@ synonym: "adult intestinal colonization botulism" EXACT [Orphanet:178487] synonym: "adult intestinal toxemia botulism" EXACT [Orphanet:178487] synonym: "adult intestinal toxin-mediated botulism" EXACT [Orphanet:178487] synonym: "infant-like botulism" EXACT [Orphanet:178487] +synonym: "intestinal botulism of adults" EXACT [MONDO:design_pattern] xref: ICD10:A05.1 {source="ORDO:178487/ntbt", source="Orphanet:178487"} xref: NCIT:C128344 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equivalentTo"} xref: Orphanet:178487 {source="MONDO:equivalentTo"} @@ -303404,7 +308648,7 @@ xref: ICD10:H35.3 {source="Orphanet:178493", source="ORDO:178493/ntbt", source=" xref: Orphanet:178493 {source="MONDO:equivalentTo"} xref: SCTID:312898002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0730271 {source="Orphanet:178493", source="ORDO:178493/e", source="MONDO:equivalentTo"} -is_a: MONDO:0020238 {source="Orphanet:178493"} ! genetic vitreous-retinal disease +is_a: MONDO:0020238 {source="Orphanet:178493"} ! inherited vitreous-retinal disease [Term] id: MONDO:0015808 @@ -303422,9 +308666,9 @@ xref: NCIT:C35685 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equiva xref: Orphanet:178512 {source="MONDO:equivalentTo"} xref: SCTID:404109006 {source="MONDO:kboom-pr-1.00/0.79/8.46", source="MONDO:equivalentTo"} xref: UMLS:C1627767 {source="NCIT:C35685", source="ORDO:178512/e", source="Orphanet:178512", source="MONDO:equivalentTo"} -is_a: MONDO:0009691 {source="MONDOLEX:0015808", source="SCTID:404109006", source="linkedlifedata"} ! mycosis fungoides +is_a: MONDO:0009691 {source="MONDOLEX:0015808", source="linkedlifedata"} ! mycosis fungoides is_a: MONDO:0015821 {source="MONDO:Redundant", source="Orphanet:178512"} ! mycosis fungoides and variants -is_a: MONDO:0021655 {source="SCTID:404109006", source="linkedlifedata"} ! secondary catabolic mucinosis of skin +is_a: MONDO:0021655 {source="linkedlifedata"} ! secondary catabolic mucinosis of skin [Term] id: MONDO:0015809 @@ -303588,7 +308832,7 @@ def: "Oculomaxillofacial dysostosis is a rare, genetic bone developmental disord subset: gard_rare subset: ordo_malformation_syndrome {source="Orphanet:1794"} synonym: "oblique facial clefts" RELATED [GARD:0004046] -synonym: "Oculomaxillofacial dysplasia with oblique facial clefts" RELATED [GARD:0004046] +synonym: "oculomaxillofacial dysplasia with oblique facial clefts" RELATED [GARD:0004046] synonym: "Richieri Costa Gorlin syndrome" RELATED [GARD:0004046] synonym: "Richieri-Costa-Gorlin syndrome" EXACT [Orphanet:1794] xref: GARD:0004046 {source="MONDO:equivalentTo"} @@ -304031,6 +309275,8 @@ synonym: "mixed germ cell cancer" EXACT [MONDO:0002600] synonym: "mixed germ cell neoplasm" EXACT [NCIT:C4290] synonym: "mixed germ cell tumor" EXACT [NCIT:C4290] synonym: "mixed germ cell tumour" EXACT [DOID:3306] +synonym: "mixed teratoma and Seminoma" EXACT [DOID:3306] +synonym: "mixed teratoma and seminoma" EXACT [DOID:3306] xref: DOID:3306 {source="MONDO:equivalentTo"} xref: ICDO:9085/3 {source="NCIT:C4290"} xref: NCIT:C4290 {source="MONDO:kboom-pr-0.95/0.86/1.09", source="MONDO:subClassOf", source="DOID:3306", source="MONDO:equivalentTo"} @@ -304039,7 +309285,7 @@ xref: Orphanet:180234 {source="MONDO:equivalentTo"} xref: SCTID:189853002 {source="DOID:3306"} xref: SCTID:32844007 {source="DOID:3306"} xref: UMLS:C0334524 {source="NCIT:C4290", source="ORDO:180234/e", source="Orphanet:180234", source="DOID:3306", source="MONDO:equivalentTo"} -is_a: MONDO:0005040 {source="DOID:3306", source="MONDO:0015864/inferred", source="MONDOLEX:0015864/inferred"} ! germ cell tumor +is_a: MONDO:0005040 {source="DOID:3306", source="MONDO:0015864/inferred", source="MONDOLEX:0015864/inferred", source="NCIT:C4290/inferred"} ! germ cell tumor is_a: MONDO:0006290 {source="MONDOLEX:0015864", source="NCIT:C4290"} ! malignant germ cell tumor relationship: excluded_subClassOf MONDO:0020539 {source="Orphanet:180234"} ! extragonadal non-dysgerminomatous germ cell tumor @@ -304306,7 +309552,7 @@ xref: MESH:C535621 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: Orphanet:1809 {source="MONDO:equivalentTo"} xref: SCTID:721147000 {source="MONDO:kboom-pr-0.78/0.38/0.83", source="MONDO:equivalentTo"} xref: UMLS:C2930953 {source="MONDO:equivalentTo", source="Orphanet:1809"} -is_a: MONDO:0019287 {source="MESH:C535621", source="MONDOLEX:0015883", source="Orphanet:1809", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MESH:C535621", source="MONDOLEX:0015883", source="Orphanet:1809", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome [Term] id: MONDO:0015884 @@ -304504,7 +309750,7 @@ synonym: "adrenogenital disorder" EXACT [] synonym: "adrenogenital syndrome" EXACT [] synonym: "androgenital syndrome" EXACT [] synonym: "congenital adrenal hyperplasia" RELATED [https://en.wikipedia.org/wiki/Congenital_adrenal_hyperplasia] -xref: ICD9:255.2 {source="SCTID:267395000"} +xref: ICD9:255.2 {source="linkedlifedata"} xref: MedDRA:10061630 {source="ORDO:181412/e", source="Orphanet:181412"} xref: MESH:D047808 {source="ORDO:181412/e", source="MONDO:ontobio", source="Orphanet:181412", source="MONDO:equivalentTo"} xref: Orphanet:181412 {source="MONDO:equivalentTo"} @@ -304512,7 +309758,7 @@ xref: SCTID:267395000 {source="MONDO:equivalentTo"} xref: UMLS:C0302280 {source="ORDO:181412/e", source="Orphanet:181412", source="MONDO:equivalentTo"} xref: UMLS:C0701163 {source="ORDO:181412/e", source="Orphanet:181412", source="MONDO:superClassOf"} xref: UMLS:CN200506 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005495 {source="SCTID:267395000"} ! adrenal gland disease +is_a: MONDO:0005495 {source="linkedlifedata"} ! adrenal gland disease is_a: MONDO:0015124 {source="Orphanet:181412"} ! rare adrenal disease is_a: MONDO:0015971 {source="Orphanet:181412"} ! rare genetic adrenal disease relationship: disease_has_basis_in_disruption_of GO:0006694 ! steroid biosynthetic process @@ -304646,6 +309892,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2176/epimetap id: MONDO:0015908 name: chromomycosis def: "Chromomycosis is a chronic cutaneous and subcutaneous fungal infection, found mainly in subtropical and tropical areas (in soil and plant debris and transmitted by traumatic inoculation), and characterized clinically by slow growing, verrucous nodules, squamous plaques, or chronic limited lesions which are most commonly found on the lower limbs and which are characterized histologically by the presence of muriform cells. It is caused by dematiaceous fungi, with the main etiological agents being Fonsecaea pedrosoi, Phialophora verrucosa and Cladophialophora carrionii. Rarely, it can be caused by Rhinocladiella aquaspersa." [Orphanet:182] +comment: Editor note: check cutaneous vs subcutaneous subset: ordo_disease {source="Orphanet:182"} synonym: "Chromoblastomycoses" RELATED [MESH:D002862] synonym: "chromoblastomycosis" EXACT [MONDO:0005702, Orphanet:182] @@ -304675,7 +309922,7 @@ xref: SCTID:238441002 {source="DOID:1562"} xref: SCTID:7255004 {source="DOID:1562"} xref: UMLS:C0008582 {source="DOID:1562", source="ORDO:182/e", source="Orphanet:182", source="MEDGEN:kboom-pr93-c94", source="MONDO:equivalentTo"} xref: UMLS:C3245522 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0000255 {source="DOID:1562"} ! subcutaneous mycosis +is_a: MONDO:0000255 {source="DOID:1562", source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! subcutaneous mycosis is_a: MONDO:0002040 {source="MESH:D002862"} ! dermatomycosis is_a: MONDO:0015578 {source="Orphanet:182"} ! rare mycosis @@ -304775,7 +310022,7 @@ xref: OMIM:605249 {source="DOID:0060651", source="MONDO:superClassOf"} xref: Orphanet:182050 {source="DOID:0060651", source="MONDO:equivalentTo"} xref: SCTID:712922002 {source="MONDO:kboom-pr-1.00/0.79/7.86", source="MONDO:equivalentTo"} xref: UMLS:C1854520 {source="Orphanet:182050"} -is_a: MONDO:0002245 {source="DOID:0060651", source="MONDO:Redundant", source="linkedlifedata"} ! blood platelet disease +is_a: MONDO:0002245 {source="DOID:0060651", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! blood platelet disease is_a: MONDO:0015163 {source="Orphanet:182050"} ! primary glomerular disease is_a: MONDO:0018795 {source="Orphanet:182050"} ! syndromic constitutional thrombocytopenia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/180/myh9-related-thrombocytopenia xsd:anyURI {source="GARD:0000180"} @@ -304965,7 +310212,7 @@ xref: Orphanet:182095 {source="MONDO:equivalentTo"} xref: SCTID:233703007 {source="MONDO:kboom-pr-1.00/0.91/28.91", source="EFO:0004244", source="DOID:3082", source="MONDO:equivalentTo"} xref: SCTID:64667001 {source="DOID:3082"} xref: UMLS:C0206062 {source="ORDO:182095/e", source="Orphanet:182095", source="DOID:3082", source="MONDO:equivalentTo"} -is_a: MONDO:0005275 {source="DOID:3082", source="EFO:0004244", source="MESH:D017563", source="MONDO:Entailed", source="linkedlife"} ! lung disease +is_a: MONDO:0005275 {source="DOID:3082", source="EFO:0004244", source="MESH:D017563", source="MONDO:Entailed", source="linkedlifedata"} ! lung disease is_a: MONDO:0015118 {source="Orphanet:182095"} ! rare pulmonary disease relationship: disease_has_location UBERON:0002048 {source="EFO:0000784"} ! lung @@ -305043,8 +310290,11 @@ intersection_of: has_modifier MONDO:0021136 ! rare [Term] id: MONDO:0015932 name: non-syndromic urogenital tract malformation of female +def: "A non-syndromic urogenital tract malformation that involves the female organism." [MONDO:design_pattern] subset: ordo_group_of_disorders {source="Orphanet:182117"} +synonym: "female organism non-syndromic urogenital tract malformation" EXACT [MONDO:design_pattern] synonym: "isolated urogenital tract malformation of female" RELATED [MONDO:DesignPattern] +synonym: "non-syndromic urogenital tract malformation of female organism" EXACT [MONDO:design_pattern] synonym: "nonsyndromic urogenital tract malformation of female" EXACT [MONDO:DesignPattern] xref: Orphanet:182117 {source="MONDO:equivalentTo"} is_a: MONDO:0015619 {source="MONDOLEX:0015932", source="Orphanet:182117"} ! non-syndromic urogenital tract malformation @@ -305055,8 +310305,11 @@ relationship: disease_has_location UBERON:0000474 ! female reproductive system [Term] id: MONDO:0015933 name: non-syndromic urogenital tract malformation of male +def: "A non-syndromic urogenital tract malformation that involves the male organism." [MONDO:design_pattern] subset: ordo_group_of_disorders {source="Orphanet:182121"} synonym: "isolated urogenital tract malformation of male" RELATED [MONDO:DesignPattern] +synonym: "male organism non-syndromic urogenital tract malformation" EXACT [MONDO:design_pattern] +synonym: "non-syndromic urogenital tract malformation of male organism" EXACT [MONDO:design_pattern] synonym: "nonsyndromic urogenital tract malformation of male" EXACT [MONDO:DesignPattern] xref: Orphanet:182121 {source="MONDO:equivalentTo"} is_a: MONDO:0015619 {source="MONDOLEX:0015933", source="Orphanet:182121"} ! non-syndromic urogenital tract malformation @@ -305115,10 +310368,14 @@ id: MONDO:0015938 name: systemic disease def: "A systemic disease is one that affects a number of organs and tissues, or affects the body as a whole." [https://en.wikipedia.org/wiki/Systemic_disease] subset: ordo_group_of_disorders {source="Orphanet:182222"} +synonym: "multi-system disorder" EXACT [] +synonym: "multisystem disorder" EXACT [] synonym: "rare systemic disease" RELATED [Orphanet:182222] synonym: "systemic disorder" EXACT [MONDO:cjm] +xref: ICD9:799.89 {source="linkedlifedata"} xref: NCIT:C9229 {source="MONDO:equivalentTo"} xref: Orphanet:182222 {source="MONDO:equivalentTo"} +xref: SCTID:281867008 {source="MONDO:equivalentTo"} xref: UMLS:C0442893 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0020012 {source="Orphanet:182222"} ! systemic or rheumatic disease @@ -305313,7 +310570,7 @@ xref: MedDRA:10021202 {source="Orphanet:183435", source="ORDO:183435/e"} xref: Orphanet:183435 {source="MONDO:equivalentTo"} xref: SCTID:13059002 {source="MONDO:equivalentTo"} xref: UMLS:C0856562 {source="Orphanet:183435", source="ORDO:183435/e"} -is_a: MONDO:0003847 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:183435/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:183435/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0015946 {source="Orphanet:183435"} ! rare genetic epidermal disorder is_a: MONDO:0019269 {source="MONDO:Entailed", source="Orphanet:183435"} ! ichthyosis (disease) intersection_of: MONDO:0019269 ! ichthyosis (disease) @@ -305921,7 +311178,7 @@ xref: SCTID:15489004 {source="DOID:9273"} xref: SCTID:398630005 {source="DOID:9273"} xref: SCTID:398680004 {source="DOID:9273", source="MONDO:superClassOf"} xref: UMLS:C0175683 {source="DOID:9273", source="ORDO:187/e", source="Orphanet:187", source="NCIT:C84639", source="MONDO:equivalentTo"} -is_a: MONDO:0004739 {source="MESH:D020159", source="MONDO:Redundant", source="NCIT:C84639"} ! urea cycle disorder +is_a: MONDO:0004739 {source="DOID:9273", source="MESH:D020159", source="MONDO:Redundant", source="NCIT:C84639"} ! urea cycle disorder is_a: MONDO:0019217 {source="Orphanet:187"} ! inborn disorder of urea cycle metabolism and ammonia detoxification [Term] @@ -306025,7 +311282,7 @@ xref: MESH:C536124 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: Orphanet:1884 {source="MONDO:equivalentTo"} xref: SCTID:722437006 {source="MONDO:kboom-pr-0.76/0.38/0.70", source="MONDO:equivalentTo"} xref: UMLS:C2931115 {source="Orphanet:1884"} -is_a: MONDO:0019118 {source="Orphanet:1884"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:1884"} ! inherited retinal dystrophy is_a: MONDO:0020236 {source="Orphanet:1884"} ! lens position anomaly [Term] @@ -306058,7 +311315,7 @@ xref: UMLS:C0013581 {source="DOID:0111148", source="Orphanet:1885", source="ORDO xref: UMLS:C1851286 {source="Orphanet:1885"} xref: UMLS:C2746069 {source="DOID:0111148", source="Orphanet:1885"} xref: url:https\://www.ncbi.nlm.nih.gov/pubmed/20141359 {source="DOID:0111148"} -is_a: MONDO:0001176 {source="DOID:0111148", source="MESH:C536184/inferred"} ! lens disease +is_a: MONDO:0001176 {source="DOID:0111148", source="MESH:C536184/inferred", source="NCIT:C34566/inferred", source="linkedlifedata/inferred"} ! lens disease is_a: MONDO:0017310 {source="Orphanet:1885"} ! Marfan and Marfan-related disorder is_a: MONDO:0020236 {source="Orphanet:1885"} ! lens position anomaly property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12251/isolated-ectopia-lentis xsd:anyURI {source="GARD:0012251"} @@ -306126,7 +311383,7 @@ xref: Orphanet:19 {source="MONDO:equivalentTo"} xref: SCTID:698870008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C2746066 {source="Orphanet:19", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C128187"} is_a: MONDO:0016399 {source="Orphanet:19"} ! amino acid or protein metabolism disease with epilepsy -is_a: MONDO:0019052 {source="MONDO:Redundant", source="NCIT:C128187", source="Orphanet:19/inferred"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:0050573/inferred", source="MESH:C535306/inferred", source="MONDO:Redundant", source="NCIT:C128187", source="Orphanet:19/inferred"} ! inborn errors of metabolism is_a: MONDO:0019058 {source="Orphanet:19"} ! neurometabolic disease is_a: MONDO:0019213 {source="Orphanet:19"} ! cerebral organic aciduria property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10761/2-hydroxyglutaric-aciduria xsd:anyURI {source="GARD:0010761"} @@ -306180,8 +311437,8 @@ xref: SCTID:718211004 {source="MONDO:equivalentTo"} xref: UMLS:C0268342 {source="NCBI:mim2gene_medline", source="NCIT:C125700", source="Orphanet:1900", source="MEDGEN:kboom-pr94-c94", source="OMIM:225400", source="MONDO:equivalentTo"} xref: UMLS:CN202461 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:0016002/inferred", source="MONDO:Redundant", source="MONDO:cjm", source="MONDOLEX:0016002/inferred", source="NCIT:C125700/inferred"} ! syndromic disease -is_a: MONDO:0006025 {source="SCTID:718211004", source="linkedlifedata"} ! autosomal recessive disease -is_a: MONDO:0020066 {source="DC-OMIM:225400", source="MESH:C536198", source="MONDOLEX:0016002", source="NCIT:C125700", source="OMIM:225400", source="Orphanet:1900", source="SCTID:718211004", source="linkedlifedata"} ! Ehlers-Danlos syndrome +is_a: MONDO:0006025 {source="linkedlifedata"} ! autosomal recessive disease +is_a: MONDO:0020066 {source="DC-OMIM:225400", source="MESH:C536198", source="MONDOLEX:0016002", source="NCIT:C125700", source="OMIM:225400", source="Orphanet:1900", source="linkedlifedata"} ! Ehlers-Danlos syndrome is_a: MONDO:0020272 {source="Orphanet:1900"} ! connective tissue disease with eye involvement relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9081 {source="mim2gene_medgen"} ! PLOD1 property_value: confidence "0.6428571428571428" xsd:double @@ -306283,7 +311540,7 @@ xref: SCTID:205832003 {source="DOID:2962"} xref: SCTID:21086008 {source="DOID:2962", source="MONDO:kboom-pr-0.86/0.67/0.42", source="MONDO:equivalentTo"} xref: UMLS:C0009207 {source="DOID:2962", source="NCIT:C9460", source="ORDO:191/e", source="Orphanet:191", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C9460"} ! syndromic disease -is_a: MONDO:0003847 {source="MESH:D003057/inferred", source="MONDO:Redundant", source="NCIT:C9460", source="Orphanet:191/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="DOID:2962/inferred", source="MESH:D003057/inferred", source="MONDO:Redundant", source="NCIT:C9460", source="Orphanet:191/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0006025 {source="DOID:2962"} ! autosomal recessive disease is_a: MONDO:0015331 {source="Orphanet:191"} ! malformation syndrome with skin/mucosae involvement is_a: MONDO:0015333 {source="Orphanet:191"} ! progeroid syndrome @@ -306581,7 +311838,7 @@ xref: SCTID:230191005 {source="MONDO:kboom-pr-0.89/0.76/0.17", source="MONDO:equ xref: UMLS:C0393484 {source="Orphanet:1929"} xref: UMLS:C2930868 {source="ORDO:1929/e", source="MONDO:equivalentTo", source="Orphanet:1929", source="NCIT:C125384"} is_a: MONDO:0015657 {source="Orphanet:1929"} ! inflammatory and autoimmune disease with epilepsy -is_a: MONDO:0019956 {source="MESH:C535291", source="MONDO:Redundant", source="NCIT:C125384", source="Orphanet:1929/inferred", source="linkedlifedata"} ! encephalitis +is_a: MONDO:0019956 {source="MESH:C535291", source="MONDO:Redundant", source="NCIT:C125384", source="Orphanet:1929/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! encephalitis is_a: MONDO:0020068 {source="Orphanet:1929"} ! postinfectious encephalitis is_a: MONDO:0100028 {source="http://orcid.org/0000-0001-8486-0558"} ! immune epilepsy @@ -306607,6 +311864,7 @@ synonym: "early infantile epileptic encephalopathy with burst-suppression" EXACT synonym: "early infantile epileptic encephalopathy with suppression-bursts" EXACT [Orphanet:1934] synonym: "EIEE" EXACT [Orphanet:1934] synonym: "epileptic encephalopathy, early infantile" EXACT [DOID:2481] +synonym: "EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 15" EXACT [DOID:0050709] synonym: "epileptic encephalopathy, infantile" EXACT [DOID:2481] synonym: "infantile epileptic encephalopathy" EXACT [MONDO:0006508] synonym: "infantile spasm" EXACT [DOID:2481] @@ -306647,7 +311905,7 @@ xref: SCTID:28055006 {source="MONDO:directSiblingOf", source="DOID:2481"} xref: SCTID:288197007 {source="DOID:2481"} xref: UMLS:C0037769 {source="MONDO:directSiblingOf", source="DOID:2481"} xref: UMLS:C0393706 {source="Orphanet:1934", source="ORDO:1934/e"} -is_a: MONDO:0005579 {source="DOID:2481"} ! generalised epilepsy +is_a: MONDO:0005579 {source="DOID:2481", source="linkedlifedata/inferred"} ! generalised epilepsy is_a: MONDO:0015921 {source="Orphanet:1934"} ! arx-related epileptic encephalopathy is_a: MONDO:0015922 {source="Orphanet:1934"} ! channelopathy with epilepsy is_a: MONDO:0100022 {source="Orphanet:1934", source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome @@ -306684,7 +311942,7 @@ xref: SCTID:44423001 {source="MONDO:kboom-pr-0.92/0.84/0.09", source="MONDO:equi xref: UMLS:C0014550 {source="DOID:308", source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:C0270855 {source="NCIT:C116593", source="Orphanet:1935", source="ORDO:1935/e", source="MONDO:equivalentTo"} is_a: MONDO:0000412 {source="DOID:308"} ! neonatal period electroclinical syndrome -is_a: MONDO:0005560 {source="EFO:1001900/inferred", source="NCIT:C116593"} ! brain disease +is_a: MONDO:0005560 {source="DOID:308/inferred", source="EFO:1001900/inferred", source="NCIT:C116593", source="linkedlifedata"} ! brain disease is_a: MONDO:0016801 {source="Orphanet:1935"} ! mitochondrial substrate carrier disorder is_a: MONDO:0100022 {source="Orphanet:1935", source="http://orcid.org/0000-0001-8486-0558"} ! neonatal/infantile epilepsy syndrome @@ -306787,7 +312045,7 @@ xref: UMLS:C0270851 {source="DOID:14264"} xref: UMLS:C1852581 {source="NCIT:C117307", source="MONDO:superClassOf"} xref: UMLS:C2930911 {source="Orphanet:1949", source="ORDO:1949/e"} is_a: MONDO:0000412 {source="DOID:14264"} ! neonatal period electroclinical syndrome -is_a: MONDO:0005027 {source="MONDO:Redundant", source="NCIT:C117307", source="linkedlifedata"} ! epilepsy +is_a: MONDO:0005027 {source="DOID:14264/inferred", source="MONDO:Redundant", source="NCIT:C117307", source="linkedlifedata"} ! epilepsy is_a: MONDO:0020070 {source="Orphanet:1949"} ! neonatal epilepsy syndrome [Term] @@ -306850,9 +312108,9 @@ xref: SCTID:75331009 {source="DOID:8931", source="MONDO:kboom-pr-1.00/0.85/15.45 xref: UMLS:C0272126 {source="Orphanet:1959", source="NCIT:C61284", source="DOID:8931", source="ORDO:1959/e", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0016030", source="NCIT:C61284"} ! syndromic disease is_a: MONDO:0004680 {source="DOID:8931"} ! primary thrombocytopenia -is_a: MONDO:0007179 {source="MESH:C536380/inferred", source="MONDO:Redundant", source="NCIT:C61284", source="linkedlifedata"} ! autoimmune disease -is_a: MONDO:0019098 {source="MONDOLEX:0016030", source="Orphanet:1959"} ! autoimmune thrombocytopenia -is_a: MONDO:0020108 {source="MESH:C536380", source="MONDOLEX:0016030", source="Orphanet:1959", source="linkedlifedata"} ! autoimmune hemolytic anemia +is_a: MONDO:0007179 {source="DOID:8931/inferred", source="MESH:C536380/inferred", source="MONDO:Redundant", source="NCIT:C61284", source="linkedlifedata", source="linkedlifedata/inferred"} ! autoimmune disease +is_a: MONDO:0019098 {source="MONDOLEX:0016030", source="Orphanet:1959", source="linkedlifedata"} ! autoimmune thrombocytopenia +is_a: MONDO:0020108 {source="MESH:C536380", source="MONDOLEX:0016030", source="Orphanet:1959", source="linkedlifedata", source="linkedlifedata/inferred"} ! autoimmune hemolytic anemia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6389/evans-syndrome xsd:anyURI {source="GARD:0006389"} [Term] @@ -307190,7 +312448,7 @@ xref: SCTID:82255004 {source="DOID:4692"} xref: UMLS:C0014236 {source="NCIT:C34586", source="DOID:4692", source="ORDO:199323/e", source="MONDO:equivalentTo", source="Orphanet:199323"} is_a: MONDO:0001524 {source="DOID:4692"} ! globe disease is_a: MONDO:0015937 {source="Orphanet:199323"} ! rare inflammatory eye disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C34586/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C34586/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_inflammation_site UBERON:0010230 ! eyeball of camera-type eye @@ -307399,6 +312657,7 @@ synonym: "Cowden disease" EXACT [NCIT:C3076, Orphanet:201] synonym: "Cowden syndrome" EXACT [NCIT:C3076] synonym: "Cowden's disease" EXACT [NCIT:C3076] synonym: "dysplastic gangliocytoma of cerebellum" EXACT [DOID:6457, NCIT:C8419] +synonym: "Lhermitte-Duclos disease" EXACT [DOID:6457] synonym: "Lhermitte-Duclos disease (disorder)" EXACT [DOID:6457, SCTID:67944007] synonym: "MHAM" RELATED [GARD:0006202] synonym: "multiple hamartoma syndrome" EXACT [NCIT:C3076, Orphanet:201] @@ -307465,7 +312724,7 @@ xref: SCTID:268196005 {source="DOID:674"} xref: SCTID:63567004 {source="MONDO:kboom-pr-0.90/0.77/0.32", source="MONDO:equivalentTo"} xref: SCTID:87979003 {source="DOID:674"} xref: UMLS:C0008925 {source="NCIT:C87069", source="DOID:674", source="ORDO:2014/e", source="Orphanet:2014", source="MONDO:equivalentTo"} -is_a: MONDO:0000358 {source="DOID:674", source="linkedlifedata"} ! orofacial cleft +is_a: MONDO:0000358 {source="DOID:674", source="linkedlifedata", source="linkedlifedata/inferred"} ! orofacial cleft is_a: MONDO:0015475 {source="Orphanet:2014"} ! rare head and neck malformation is_a: MONDO:0019038 {source="Orphanet:2014"} ! rare maxillo-facial surgical disease @@ -307541,7 +312800,7 @@ xref: OMIMPS:228520 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:2021 {source="DOID:0060465", source="MONDO:equivalentTo"} xref: SCTID:17144009 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:0060465", source="MONDO:equivalentTo"} xref: UMLS:C0265282 {source="Orphanet:2021", source="ORDO:2021/e", source="DOID:0060465"} -is_a: MONDO:0005516 {source="DOID:0060465", source="linkedlifedata"} ! osteochondrodysplasia +is_a: MONDO:0005516 {source="DOID:0060465", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0019687 {source="Orphanet:2021"} ! type 11 collagen-related bone disorder is_a: MONDO:0019697 {source="Orphanet:2021"} ! mesomelic and rhizo-mesomelic dysplasia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2321/fibrochondrogenesis xsd:anyURI {source="GARD:0002321"} @@ -307657,8 +312916,8 @@ xref: SCTID:187161002 {source="DOID:1080"} xref: SCTID:187532008 {source="DOID:1080"} xref: SCTID:50342004 {source="DOID:1080"} xref: UMLS:C0016085 {source="ORDO:2034/e", source="NCIT:C34611", source="DOID:1080", source="MONDO:equivalentTo", source="Orphanet:2034"} -is_a: MONDO:0004664 {source="DOID:1080", source="ICD10:B74", source="MESH:D005368/inferred", source="linkedlifedata"} ! helminthiasis -is_a: MONDO:0005135 {source="MESH:D005368/inferred", source="MONDO:Redundant", source="NCIT:C34611", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0004664 {source="DOID:1080", source="ICD10:B74", source="MESH:D005368/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis +is_a: MONDO:0005135 {source="DOID:1080/inferred", source="MESH:D005368/inferred", source="MONDO:Redundant", source="NCIT:C34611", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection is_a: MONDO:0015577 {source="Orphanet:2034"} ! rare parasitic disease [Term] @@ -307819,13 +313078,34 @@ is_a: MONDO:0043008 {source="Orphanet:2050"} ! genetic multiple congenital anoma id: MONDO:0016086 name: osteochondritis of tarsal/metatarsal bone def: "Osteochondritis of tarsal/metatarsal bone is a very rare form of osteochondritis dissecans characterized by generally self-limiting bone lesions that may cause pain and swelling often localized at the tarsal navicular bone" [Orphanet:2054] +subset: gard_rare subset: ordo_disease {source="Orphanet:2054"} synonym: "aseptic necrosis of the tarsal bone" EXACT [Orphanet:2054] +synonym: "aseptic necrosis of the tarsal bone" RELATED [GARD:0006842] +synonym: "juvenile osteochondrosis of foot" EXACT [DOID:11760, ICD9CM_2006:732.5] +synonym: "Kohler disease" EXACT [DOID:11760] +synonym: "Kohler's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, GARD:0006842, MONDO:LexicalVariant] +synonym: "Kohler's disease of the tarsal navicular" RELATED [GARD:0006842] +synonym: "Kohler's Osteochondrosis of the tarsal navicular" RELATED [GARD:0006842] +synonym: "navicular Osteochondrosis" RELATED [GARD:0006842] +synonym: "osteochondritis of tarsal/metatarsal bone" RELATED [GARD:0006842] synonym: "Osteochondrosis of the tarsal bone" EXACT [Orphanet:2054] +synonym: "Osteochondrosis of the tarsal bone" RELATED [GARD:0006842] +xref: COHD:435903 {source="MONDO:equivalentTo"} +xref: DOID:11760 {source="MONDO:equivalentTo"} +xref: GARD:0006842 {source="MONDO:equivalentTo"} xref: ICD10:M93.2 {source="Orphanet:2054", source="ORDO:2054/ntbt"} -xref: Orphanet:2054 {source="MONDO:equivalentTo"} +xref: ICD9:732.5 {source="DOID:11760", source="i2s", source="MONDO:equivalentTo"} +xref: Orphanet:2054 {source="GARD:0006842", source="MONDO:directSiblingOf", source="MONDO:equivalentTo"} +xref: SCTID:203392007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:11760", source="MONDO:equivalentTo"} +xref: SCTID:203393002 {source="DOID:11760"} +xref: SCTID:203397001 {source="DOID:11760"} +xref: SCTID:32491009 {source="DOID:11760"} +xref: UMLS:C0158444 {source="DOID:11760", source="MONDO:equivalentTo"} xref: UMLS:CN200840 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0018381 {source="Orphanet:2054"} ! osteochondrosis +is_a: MONDO:0018381 {source="DOID:11760", source="Orphanet:2054"} ! osteochondrosis +relationship: disease_has_feature HP:0010885 ! Aseptic necrosis +property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6842/kohler-disease xsd:anyURI {source="GARD:0006842"} [Term] id: MONDO:0016087 @@ -307887,7 +313167,9 @@ is_a: MONDO:0009499 {source="MONDOLEX:0016090", source="Orphanet:206443"} ! Krab [Term] id: MONDO:0016091 name: adult Krabbe disease +def: "A Krabbe disease that occurs in an adult." [MONDO:design_pattern] subset: ordo_clinical_subtype {source="Orphanet:206448"} +synonym: "Krabbe disease of adults" EXACT [MONDO:design_pattern] xref: ICD10:E75.2 {source="Orphanet:206448", source="ORDO:206448/ntbt", source="ORDO:206448/attributed"} xref: Orphanet:206448 {source="MONDO:equivalentTo"} xref: UMLS:C0268252 {source="ORDO:206448/e", source="Orphanet:206448"} @@ -308099,7 +313381,7 @@ xref: NCIT:C27589 {source="MONDO:equivalentTo"} xref: Orphanet:206613 {source="MONDO:equivalentTo"} xref: UMLS:C1278821 {source="Orphanet:206613", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015923 {source="Orphanet:206613"} ! acquired peripheral neuropathy -is_a: MONDO:0020010 {source="OWLReasoner:Elk-2018-01-21"} ! infectious disease of the nervous system +is_a: MONDO:0020010 {source="NCIT:C27589", source="OWLReasoner:Elk-2018-01-21"} ! infectious disease of the nervous system [Term] id: MONDO:0016105 @@ -308154,7 +313436,7 @@ xref: UMLS:C0410226 {source="Orphanet:206647"} xref: UMLS:C0553604 {source="DOID:450"} is_a: MONDO:0016106 {source="Orphanet:206647"} ! progressive muscular dystrophy is_a: MONDO:0016120 {source="Orphanet:206647"} ! myotonic syndrome -is_a: MONDO:0020121 {source="MESH:D009223", source="MONDO:Redundant", source="NCIT:C84914", source="Orphanet:206647", source="Orphanet:206647/inferred"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:450", source="MESH:D009223", source="MONDO:Redundant", source="NCIT:C84914", source="Orphanet:206647", source="Orphanet:206647/inferred"} ! muscular dystrophy relationship: disease_disrupts GO:0043484 {source="PMID:19909263"} ! regulation of RNA splicing relationship: disease_has_basis_in_disruption_of GO:0003723 {source="PMID:19909263"} ! RNA binding @@ -308225,13 +313507,16 @@ xref: ICD10:G12.2 {source="Orphanet:206701", source="MONDO:subClassOf", source=" xref: Orphanet:206701 {source="MONDO:equivalentTo"} xref: SCTID:230253001 {source="MONDO:kboom-pr-1.00/0.79/7.73", source="MONDO:equivalentTo"} xref: UMLS:C0393547 {source="Orphanet:206701"} -is_a: MONDO:0001516 {source="linkedlife"} ! spinal muscular atrophy +is_a: MONDO:0001516 {source="linkedlifedata"} ! spinal muscular atrophy is_a: MONDO:0020128 {source="Orphanet:206701", source="Orphanet:206701/inferred"} ! motor neuron disease [Term] id: MONDO:0016114 name: bulbospinal muscular atrophy of childhood +def: "A bulbospinal muscular atrophy that occurs during childhood." [MONDO:design_pattern] subset: ordo_group_of_disorders {source="Orphanet:206704"} +synonym: "childhood bulbospinal muscular atrophy" EXACT [MONDO:design_pattern] +synonym: "pediatric bulbospinal muscular atrophy" EXACT [MONDO:design_pattern] xref: ICD10:G12.2 {source="ORDO:206704/ntbt", source="Orphanet:206704", source="MONDO:subClassOf", source="ORDO:206704/attributed"} xref: Orphanet:206704 {source="MONDO:equivalentTo"} is_a: MONDO:0016113 {source="MONDOLEX:0016114", source="Orphanet:206704"} ! bulbospinal muscular atrophy @@ -308241,8 +313526,11 @@ intersection_of: has_modifier HP:0011463 ! Childhood onset [Term] id: MONDO:0016115 name: bulbospinal muscular atrophy of adulthood +def: "A bulbospinal muscular atrophy that occurs in an adult." [MONDO:design_pattern] subset: ordo_group_of_disorders {source="Orphanet:206707"} +synonym: "adult bulbospinal muscular atrophy" EXACT [MONDO:design_pattern] synonym: "bulbospinal muscular atrophy of adult" RELATED [Orphanet:206707] +synonym: "bulbospinal muscular atrophy of adults" EXACT [MONDO:design_pattern] xref: ICD10:G12.2 {source="ORDO:206707/ntbt", source="Orphanet:206707", source="MONDO:subClassOf", source="ORDO:206707/attributed"} xref: Orphanet:206707 {source="MONDO:equivalentTo"} is_a: MONDO:0016113 {source="MONDOLEX:0016115", source="Orphanet:206707"} ! bulbospinal muscular atrophy @@ -308708,7 +313996,7 @@ xref: SCTID:155059003 {source="DOID:8986"} xref: SCTID:267702006 {source="DOID:8986"} xref: SCTID:60380001 {source="EFO:0000614", source="DOID:8986", source="MONDO:subClassOf"} xref: UMLS:C0751362 {source="ORDO:2073/e", source="Orphanet:2073"} -is_a: MONDO:0003406 {source="ICD10:G47.4", source="MONDO:Redundant"} ! sleep-wake disorder +is_a: MONDO:0003406 {source="EFO:0000614", source="ICD10:G47.4", source="MONDO:Redundant"} ! sleep-wake disorder is_a: MONDO:0005560 {source="EFO:0000614/inferred", source="OWLReasoner:2017"} ! brain disease is_a: MONDO:0019045 {source="Orphanet:2073"} ! rare sleep disorder is_a: MONDO:0021107 {source="MONDO:cjm"} ! narcolepsy @@ -308862,7 +314150,7 @@ xref: UMLS:C2316212 {source="NCIT:C84657", source="Orphanet:208650", source="MON is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C84657"} ! syndromic disease is_a: MONDO:0017369 {source="Orphanet:208650"} ! autoinflammatory syndrome with immune deficiency is_a: MONDO:0017370 {source="Orphanet:208650"} ! autoinflammatory syndrome with skin involvement -is_a: MONDO:0017953 {source="Orphanet:208650"} ! hereditary periodic fever syndrome +is_a: MONDO:0017953 {source="MESH:D056587", source="Orphanet:208650"} ! hereditary periodic fever syndrome is_a: MONDO:0019751 {source="Orphanet:208650/inferred", source="PMID:23827249"} ! autoinflammatory syndrome [Term] @@ -308870,7 +314158,9 @@ id: MONDO:0016169 name: chronic acquired demyelinating polyneuropathy def: "Chronic form of acquired peripheral neuropathy." [MONDO:patterns/chronic] subset: ordo_group_of_disorders {source="Orphanet:208974"} +synonym: "acquired peripheral neuropathy, chronic" EXACT [MONDO:design_pattern] synonym: "CADP" EXACT [Orphanet:208974] +synonym: "chronic acquired peripheral neuropathy" EXACT [MONDO:design_pattern] xref: Orphanet:208974 {source="MONDO:equivalentTo"} is_a: MONDO:0015923 {source="Orphanet:208974"} ! acquired peripheral neuropathy intersection_of: MONDO:0015923 ! acquired peripheral neuropathy @@ -309316,7 +314606,7 @@ xref: ICD10:A07.3 {source="Orphanet:210", source="MONDO:directSiblingOf", source xref: Orphanet:210 {source="MONDO:equivalentTo"} xref: SCTID:716860005 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C4274225 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005725 {source="MONDO:Entailed", source="linkedlife"} ! cyclosporiasis +is_a: MONDO:0005725 {source="MONDO:Entailed", source="linkedlifedata"} ! cyclosporiasis is_a: MONDO:0015577 {source="Orphanet:210"} ! rare parasitic disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:88456 ! Cyclospora cayetanensis @@ -309369,7 +314659,7 @@ xref: SCTID:275468009 {source="DOID:10970"} xref: UMLS:C0154697 {source="DOID:10970", source="MONDO:equivalentTo"} xref: UMLS:C0426970 {source="NCIT:C116904"} is_a: MONDO:0000396 {source="DOID:10970"} ! spastic cerebral palsy -is_a: MONDO:0006497 {source="MONDO:Redundant", source="NCIT:C116904"} ! cerebral palsy +is_a: MONDO:0006497 {source="DOID:10970/inferred", source="MONDO:Redundant", source="NCIT:C116904"} ! cerebral palsy is_a: MONDO:0019117 {source="MONDO:Redundant", source="Orphanet:210141"} ! genetic nervous system disorder [Term] @@ -309386,6 +314676,7 @@ synonym: "adult primary hepatocellular carcinoma" EXACT [NCIT:C7956] synonym: "adult primary hepatoma" EXACT [NCIT:C7956] synonym: "adult primary liver cell carcinoma" EXACT [NCIT:C7956] synonym: "hepatocellular cancer" EXACT [NCIT:C7956] +synonym: "hepatocellular carcinoma of adults" EXACT [MONDO:design_pattern] xref: ICD10:C22.0 {source="ORDO:210159/ntbt", source="Orphanet:210159"} xref: NCIT:C7956 {source="kboom:pr0.79-conf5.41", source="MONDO:equivalentTo"} xref: Orphanet:210159 {source="MONDO:equivalentTo"} @@ -309447,7 +314738,7 @@ xref: SCTID:40956001 {source="MONDO:equivalentTo"} xref: UMLS:C0018378 {source="NCIT:C116345", source="OMIM:139393", source="ORDO:2103/e", source="Orphanet:2103", source="DOID:12842", source="MONDO:equivalentTo"} is_a: MONDO:0000590 {source="DOID:12842", source="MONDO:Entailed"} ! autoimmune disease of peripheral nervous system is_a: MONDO:0002254 {source="MONDOLEX:0016218", source="NCIT:C116345"} ! syndromic disease -is_a: MONDO:0002977 {source="MESH:D020275/inferred", source="MONDO:Redundant", source="NCIT:C116345"} ! autoimmune disease of the nervous system +is_a: MONDO:0002977 {source="DOID:12842/inferred", source="MESH:D020275/inferred", source="MONDO:Redundant", source="NCIT:C116345"} ! autoimmune disease of the nervous system is_a: MONDO:0015916 {source="Orphanet:2103"} ! rare neuroinflammatory or neuroimmunological disease is_a: MONDO:0016137 {source="Orphanet:2103"} ! acute and subacute inflammatory demyelinating polyneuropathy @@ -309572,7 +314863,7 @@ xref: OMIMPS:160120 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:211062 {source="DOID:963", source="MONDO:equivalentTo", source="MONDO:superClassOf"} xref: SCTID:421455009 {source="DOID:963", source="MONDO:kboom-pr-0.92/0.83/0.06", source="MONDO:equivalentTo"} xref: UMLS:C1720189 {source="DOID:963", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000557 {source="Orphanet:211062"} ! hereditary ataxia +is_a: MONDO:0000557 {source="DOID:963", source="Orphanet:211062"} ! hereditary ataxia property_value: confidence "3.0" xsd:double [Term] @@ -309685,7 +314976,7 @@ xref: SCTID:403983000 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:eq xref: UMLS:C1367420 {source="NCIT:C27510", source="ORDO:2122/e", source="MONDO:equivalentTo", source="Orphanet:2122"} is_a: MONDO:0016228 {source="Orphanet:2122"} ! rare vascular tumor is_a: MONDO:0019099 {source="Orphanet:2122"} ! rare soft tissue tumor -is_a: MONDO:0021121 {source="NCIT:C27510", source="linkedlifedata"} ! hemangioendothelioma +is_a: MONDO:0021121 {source="MESH:C537007", source="NCIT:C27510", source="linkedlifedata"} ! hemangioendothelioma disjoint_from: MONDO:0018736 ! kaposiform lymphangiomatosis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3077/kaposiform-hemangioendothelioma xsd:anyURI {source="GARD:0003077"} @@ -309762,7 +315053,7 @@ xref: SCTID:62332007 {source="DOID:1064"} xref: UMLS:C0010690 {source="Orphanet:213", source="NCIT:C2976", source="MONDO:equivalentTo", source="ORDO:213/e"} xref: UMLS:C2931187 {source="DOID:1064"} xref: UMLS:CN035091 {source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MESH:D003554/inferred", source="MONDO:Redundant", source="NCIT:C2976", source="Orphanet:213/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:D003554/inferred", source="MONDO:Redundant", source="NCIT:C2976", source="Orphanet:213/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0019246 {source="Orphanet:213"} ! inborn disorder of lysosomal amino acid transport relationship: disease_disrupts GO:0080145 ! cysteine homeostasis relationship: disease_has_location GO:0005764 ! lysosome @@ -309795,7 +315086,9 @@ synonym: "AHC" EXACT [DOID:0050635, Orphanet:2131] synonym: "AHC" RELATED [GARD:0000011] synonym: "alternating hemiplegia" RELATED [GARD:0000011] synonym: "alternating hemiplegia syndrome" RELATED [GARD:0000011] +synonym: "childhood alternating hemiplegia" EXACT [MONDO:design_pattern] synonym: "congenital adrenal gland hypoplasia" EXACT [NCIT:C35261] +synonym: "pediatric alternating hemiplegia" EXACT [MONDO:design_pattern] xref: DOID:0050635 {source="MONDO:equivalentTo"} xref: GARD:0000011 {source="MONDO:equivalentTo"} xref: ICD10:G98 {source="Orphanet:2131", source="ORDO:2131/ntbt", source="DOID:0050635", source="ORDO:2131/attributed"} @@ -309834,7 +315127,7 @@ xref: Orphanet:2132 {source="MONDO:equivalentTo"} xref: SCTID:51053007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2859", source="MONDO:equivalentTo"} xref: UMLS:C0019021 {source="Orphanet:2132", source="ORDO:2132/e", source="DOID:2859", source="NCIT:C34675", source="MONDO:equivalentTo"} is_a: MONDO:0015972 {source="Orphanet:2132", source="Orphanet:2132/inferred"} ! rare constitutional anemia -is_a: MONDO:0019050 {source="DOID:2859", source="MESH:D006445", source="NCIT:C34675", source="Orphanet:2132", source="linkedlifedata"} ! inherited hemoglobinopathy +is_a: MONDO:0019050 {source="DOID:2859", source="MESH:C531699/inferred", source="MESH:D006445", source="NCIT:C34675", source="Orphanet:2132", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2640/hemoglobin-c-disease xsd:anyURI {source="GARD:0002640"} [Term] @@ -309856,7 +315149,7 @@ xref: Orphanet:2133 {source="MONDO:equivalentTo"} xref: SCTID:25065001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:5379", source="MONDO:equivalentTo"} xref: UMLS:C0238159 {source="ORDO:2133/e", source="DOID:5379", source="NCIT:C35287", source="MONDO:equivalentTo", source="Orphanet:2133"} is_a: MONDO:0015972 {source="Orphanet:2133", source="Orphanet:2133/inferred"} ! rare constitutional anemia -is_a: MONDO:0019050 {source="DOID:5379", source="NCIT:C35287", source="Orphanet:2133", source="linkedlifedata"} ! inherited hemoglobinopathy +is_a: MONDO:0019050 {source="DOID:5379", source="NCIT:C35287", source="Orphanet:2133", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2641/hemoglobin-e-disease xsd:anyURI {source="GARD:0002641"} [Term] @@ -310212,6 +315505,7 @@ synonym: "leiomyosarcoma of uterus" EXACT [NCIT:C6340] synonym: "uterine body leiomyosarcoma" EXACT [NCIT:C6340] synonym: "uterine corpus leiomyosarcoma" EXACT [NCIT:C6340] synonym: "uterine leiomyosarcoma" RELATED [ONCOTREE:ULMS] +synonym: "uterus leiomyosarcoma" RELATED [DOID:5289] xref: DOID:5289 {source="MONDO:equivalentTo"} xref: ICD10:C54.2 {source="ORDO:213625/ntbt", source="Orphanet:213625"} xref: NCIT:C6340 {source="DOID:5289", source="DesignPattern", source="kboom:pr0.84-conf11.09", source="MONDO:equivalentTo"} @@ -310562,6 +315856,7 @@ def: "Leiomyosarcoma of the cervix uteri is a rare, malignant mesenchymal tumor subset: ordo_disease {source="Orphanet:213807"} synonym: "CELI" RELATED [ONCOTREE:CELI] synonym: "cervical leiomyosarcoma" EXACT [NCIT:C128047, Orphanet:213807] +synonym: "leiomyosarcoma of uterine cervix" EXACT [MONDO:design_pattern] synonym: "uterine cervix leiomyosarcoma" EXACT [MONDO:patterns/location] xref: ICD10:C53.0 {source="Orphanet:213807", source="ORDO:213807/btnt", source="MONDO:relatedTo"} xref: ICD10:C53.1 {source="Orphanet:213807", source="ORDO:213807/btnt"} @@ -310630,6 +315925,7 @@ name: adenoid basal carcinoma of the cervix uteri def: "A skin adenoid basal cell carcinoma that involves the uterine cervix." [MONDO:patterns/location] subset: ordo_disease {source="Orphanet:213828"} synonym: "cervical adenoid basal carcinoma" EXACT [Orphanet:213828] +synonym: "skin adenoid basal cell carcinoma of uterine cervix" EXACT [MONDO:design_pattern] synonym: "uterine cervix skin adenoid basal cell carcinoma" EXACT [MONDO:patterns/location] xref: ICD10:C53.0 {source="ORDO:213828/btnt", source="Orphanet:213828", source="MONDO:relatedTo"} xref: ICD10:C53.1 {source="ORDO:213828/btnt", source="Orphanet:213828"} @@ -310794,7 +316090,7 @@ xref: SCTID:42012007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1450 xref: UMLS:C0027877 {source="NCIT:C61257", source="DOID:14503", source="ORDO:216/e", source="Orphanet:216", source="MONDO:equivalentTo"} is_a: MONDO:0015952 {source="MONDO:Redundant", source="Orphanet:216"} ! genetic neurodegenerative disease is_a: MONDO:0016397 {source="Orphanet:216"} ! lysosomal disease with epilepsy -is_a: MONDO:0019052 {source="MONDO:Redundant", source="NCIT:C61257", source="Orphanet:216/inferred", source="linkedlifedata"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:14503/inferred", source="MONDO:Redundant", source="NCIT:C61257", source="Orphanet:216/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inborn errors of metabolism is_a: MONDO:0019058 {source="Orphanet:216"} ! neurometabolic disease is_a: MONDO:0019245 {source="DOID:14503"} ! lysosomal lipid storage disorder is_a: MONDO:0020244 {source="Orphanet:216"} ! unclassified primitive or secondary maculopathy @@ -310833,7 +316129,7 @@ xref: SCTID:44519006 {source="DOID:4621"} xref: UMLS:C0079541 {source="ORDO:2162/e", source="Orphanet:2162", source="DOID:4621", source="NCIT:C74988", source="MONDO:equivalentTo"} xref: UMLS:C3711749 {source="Orphanet:2162"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C74988"} ! syndromic disease -is_a: MONDO:0002320 {source="DOID:4621"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="DOID:4621"} ! congenital nervous system disorder is_a: MONDO:0015159 {source="Orphanet:2162"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:2162"} ! rare syndromic intellectual disability is_a: MONDO:0015655 {source="Orphanet:2162"} ! cerebral malformation with epilepsy @@ -311425,7 +316721,7 @@ xref: Orphanet:2177 {source="MONDO:equivalentTo"} xref: SCTID:30023002 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="DOID:4626", source="MONDO:equivalentTo"} xref: UMLS:C0020225 {source="ORDO:2177/e", source="DOID:4626", source="NCIT:C98949", source="MONDO:equivalentTo", source="Orphanet:2177"} is_a: MONDO:0000819 {source="DOID:4626"} ! anencephaly -is_a: MONDO:0002320 {source="MONDO:Redundant", source="NCIT:C98949"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="MONDO:Redundant", source="NCIT:C98949"} ! congenital nervous system disorder is_a: MONDO:0017103 {source="Orphanet:2177"} ! Encephaloclastic disorder [Term] @@ -311490,7 +316786,7 @@ xref: Orphanet:2185 {source="MONDO:equivalentTo"} xref: SCTID:47032000 {source="MONDO:equivalentTo"} xref: UMLS:C0020256 {source="ORDO:2185/e", source="Orphanet:2185", source="NCIT:C98876", source="MONDO:equivalentTo"} is_a: MONDO:0001150 {source="MONDO:cjm", source="NCIT:C98876"} ! hydrocephalus -is_a: MONDO:0002320 {source="NCIT:C98876"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="NCIT:C98876"} ! congenital nervous system disorder is_a: MONDO:0015219 {source="Orphanet:2185"} ! non-syndromic central nervous system malformation is_a: MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:2185", source="Orphanet:2185/inferred"} ! rare genetic developmental defect during embryogenesis property_value: confidence "0.5277777777777779" xsd:double @@ -311631,7 +316927,7 @@ xref: GARD:0001053 {source="Orphanet-shared", source="MONDO:equivalentTo"} xref: ICD10:M34.1 {source="ORDO:220402/ntbt", source="Orphanet:220402"} xref: Orphanet:220402 {source="MONDO:equivalentTo"} xref: SCTID:298285004 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.73/0.45/0.09"} -is_a: MONDO:0005100 {source="MONDOLEX:0016358", source="Orphanet:220402", source="linkedlifedata"} ! systemic sclerosis +is_a: MONDO:0005100 {source="MONDOLEX:0016358", source="Orphanet:220402", source="linkedlifedata", source="linkedlifedata/inferred"} ! systemic sclerosis [Term] id: MONDO:0016359 @@ -311698,7 +316994,7 @@ xref: OMIM:616415 {source="Orphanet:220460", source="ORDO:220460/btnt", source=" xref: Orphanet:220460 {source="MONDO:equivalentTo"} xref: SCTID:715866009 {source="MONDO:kboom-pr-0.93/0.83/0.34", source="MONDO:equivalentTo"} xref: UMLS:C2674616 {source="NCIT:C6729", source="Orphanet:220460", source="ORDO:220460/e", source="MONDO:equivalentTo"} -is_a: MONDO:0015356 {source="MESH:C538265/inferred", source="MONDO:Redundant", source="NCIT:C6729", source="Orphanet:220460", source="Orphanet:220460/inferred", source="linkedlifedata"} ! hereditary neoplastic syndrome +is_a: MONDO:0015356 {source="MESH:C538265/inferred", source="MONDO:Redundant", source="NCIT:C6729", source="Orphanet:220460", source="Orphanet:220460/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0021057 {source="MONDO:cjm"} ! classic or attenuated familial adenomatous polyposis [Term] @@ -311899,6 +317195,7 @@ synonym: "glossopharyngeal nerve neuralgia" EXACT [MONDO:patterns/location] synonym: "glossopharyngeal neuralgia" EXACT [DOID:14423, ICD9CM_2006:352.1] synonym: "glossopharyngeal neuralgia (disorder)" EXACT [DOID:14423, SCTID:43763009] synonym: "Glossovasopharyngeal neuralgia" EXACT [Orphanet:221098] +synonym: "neuralgia of glossopharyngeal nerve" EXACT [MONDO:design_pattern] xref: COHD:380100 {source="MONDO:equivalentTo"} xref: DOID:14423 {source="MONDO:equivalentTo"} xref: GARD:0006519 {source="MONDO:equivalentTo"} @@ -311909,7 +317206,7 @@ xref: MESH:D020435 {source="DOID:14423"} xref: Orphanet:221098 {source="MONDO:equivalentTo"} xref: SCTID:43763009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14423", source="MONDO:equivalentTo"} xref: UMLS:C0154731 {source="ORDO:221098/e", source="Orphanet:221098", source="DOID:14423", source="MONDO:equivalentTo"} -is_a: MONDO:0002639 {source="DOID:14423", source="MONDO:Entailed", source="linkedlife"} ! glossopharyngeal nerve disease +is_a: MONDO:0002639 {source="DOID:14423", source="MONDO:Entailed", source="linkedlifedata"} ! glossopharyngeal nerve disease is_a: MONDO:0016374 {source="MONDO:Entailed", source="Orphanet:221098"} ! cranial neuralgia intersection_of: MONDO:0021667 ! neuralgia intersection_of: disease_has_location UBERON:0001649 ! glossopharyngeal nerve @@ -311933,6 +317230,7 @@ def: "A neuralgia that involves the cranial neuron projection bundle." [MONDO:pa subset: ordo_group_of_disorders {source="Orphanet:221109"} synonym: "cranial neuron projection bundle neuralgia" EXACT [MONDO:patterns/location] synonym: "Facial neuralgia" EXACT [Orphanet:221109] +synonym: "neuralgia of cranial neuron projection bundle" EXACT [MONDO:design_pattern] xref: Orphanet:221109 {source="MONDO:equivalentTo"} xref: SCTID:23096007 {source="MONDO:kboom-pr-0.90/0.77/0.38", source="MONDO:equivalentTo"} xref: UMLS:C0010269 {source="ORDO:221109/e", source="Orphanet:221109", source="MONDO:equivalentTo"} @@ -312235,7 +317533,7 @@ xref: MESH:C537858 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIM:136520 {source="Orphanet:2253", source="MONDO:subClassOf", source="MONDO:relatedTo", source="ORDO:2253/ntbt"} xref: Orphanet:2253 {source="MONDO:equivalentTo"} xref: UMLS:C2931644 {source="Orphanet:2253", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} -is_a: MONDO:0004589 {source="OWLReasoner:2017"} ! hereditary retinal dystrophy +is_a: MONDO:0019118 {source="OWLReasoner:2017"} ! inherited retinal dystrophy is_a: MONDO:0020244 {source="Orphanet:2253"} ! unclassified primitive or secondary maculopathy property_value: confidence "5.6923076923076925" xsd:double @@ -312256,7 +317554,7 @@ xref: Orphanet:2254 {source="MONDO:equivalentTo"} xref: SCTID:718610008 {source="MONDO:kboom-pr-1.00/0.79/8.20", source="MONDO:equivalentTo"} xref: UMLS:C1843504 {source="ORDO:2254/e", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:2254"} is_a: MONDO:0016131 {source="Orphanet:2254"} ! spinal muscular atrophy associated with central nervous system anomaly -is_a: MONDO:0020135 {source="Orphanet:2254"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="Orphanet:2254", source="linkedlifedata"} ! non-syndromic pontocerebellar hypoplasia [Term] id: MONDO:0016397 @@ -312519,7 +317817,7 @@ xref: OMIM:613399 {source="ORDO:227535/ntbt", source="MONDO:subClassOf", source= xref: Orphanet:227535 {source="MONDO:equivalentTo"} xref: SCTID:254843006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.77/0.38/0.74"} xref: UMLS:C0346153 {source="NCBI:mim2gene_medline", source="NCIT:C4503", source="MEDGEN:kboom-pr98-c99", source="Orphanet:227535", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:227535/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:227535/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease intersection_of: MONDO:0004989 ! breast carcinoma intersection_of: has_modifier MONDO:0021152 ! genetic and inherited relationship: disease_has_feature MONDO:0004989 {source="MONDO:cjm", source="NCIT:C4503"} ! breast carcinoma @@ -313350,7 +318648,7 @@ xref: Orphanet:231 {source="MONDO:equivalentTo"} xref: SCTID:396334002 {source="DOID:14418", source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: SCTID:48874008 {source="DOID:14418"} xref: UMLS:C0013100 {source="DOID:14418", source="Orphanet:231", source="NCIT:C84677", source="ORDO:231/e", source="MONDO:equivalentTo"} -is_a: MONDO:0005135 {source="EFO:0007241", source="MESH:D004320/inferred", source="MONDO:Redundant", source="NCIT:C84677", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0005135 {source="DOID:14418/inferred", source="EFO:0007241", source="MESH:D004320/inferred", source="MONDO:Redundant", source="NCIT:C84677", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection is_a: MONDO:0016075 {source="Orphanet:231"} ! filariasis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:318479 ! Dracunculus medinensis @@ -313917,7 +319215,7 @@ xref: Orphanet:2322 {source="DOID:0060473", source="MONDO:equivalentTo"} xref: SCTID:205805008 {source="DOID:0060473"} xref: SCTID:313426007 {source="DOID:0060473", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.74/1.38"} xref: UMLS:C0796004 {source="ORDO:2322/e", source="DOID:0060473", source="NCIT:C124837", source="Orphanet:2322", source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C124837"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:0060473", source="MONDO:Redundant", source="NCIT:C124837"} ! syndromic disease is_a: MONDO:0015159 {source="Orphanet:2322"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:2322"} ! rare syndromic intellectual disability is_a: MONDO:0015216 {source="Orphanet:2322"} ! syndromic diaphragmatic or abdominal wall malformation @@ -314310,7 +319608,7 @@ xref: SCTID:7731005 {source="MONDO:directSiblingOf", source="DOID:14793"} xref: UMLS:C0162359 {source="DOID:14793", source="Orphanet:238468"} xref: UMLS:C0406702 {source="Orphanet:238468", source="MONDO:superClassOf"} xref: UMLS:C1706004 {source="Orphanet:238468"} -is_a: MONDO:0019287 {source="MONDOLEX:0016535", source="Orphanet:238468", source="linkedlifedata"} ! ectodermal dysplasia syndrome +is_a: MONDO:0019287 {source="MONDOLEX:0016535", source="Orphanet:238468", source="linkedlifedata", source="linkedlifedata/inferred"} ! ectodermal dysplasia syndrome is_a: MONDO:0020014 {source="Orphanet:238468"} ! rare disease with odontological manifestation is_a: MONDO:0020194 {source="Orphanet:238468"} ! congenital alacrima relationship: disease_has_basis_in_disruption_of GO:0007499 {source="https://ghr.nlm.nih.gov/condition/hypohidrotic-ectodermal-dysplasia#genes"} ! ectoderm and mesoderm interaction @@ -314743,7 +320041,7 @@ xref: NCIT:C34784 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equiva xref: Orphanet:2404 {source="MONDO:equivalentTo"} xref: SCTID:44250009 {source="MONDO:kboom-pr-1.00/0.75/6.80", source="MONDO:equivalentTo", source="DOID:13523"} xref: UMLS:C0023968 {source="NCIT:C34784", source="ORDO:2404/e", source="Orphanet:2404", source="MONDO:equivalentTo", source="DOID:13523"} -is_a: MONDO:0005135 {source="MESH:D008118/inferred", source="MONDO:Redundant", source="NCIT:C34784", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0005135 {source="DOID:13523/inferred", source="MESH:D008118/inferred", source="MONDO:Redundant", source="NCIT:C34784", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection is_a: MONDO:0016075 {source="DOID:13523", source="ICD10:B74.3", source="MESH:D008118", source="Orphanet:2404", source="linkedlifedata"} ! filariasis is_a: MONDO:0019519 {source="OWLReasoner:2017"} ! rare skin disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3283/loiasis xsd:anyURI {source="GARD:0003283"} @@ -314884,7 +320182,7 @@ xref: OMIM:154000 {source="GARD:0003347"} xref: Orphanet:2435 {source="GARD:0003347", source="MONDO:equivalentTo"} xref: UMLS:C1835172 {source="Orphanet:2435", source="GARD:0003347", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} is_a: MONDO:0006600 {source="MESH:C537836", source="MONDO:Redundant"} ! pigmentation disease -is_a: MONDO:0019288 {source="Orphanet:2435"} ! skin pigmentation disease +is_a: MONDO:0019288 {source="MESH:C537836", source="Orphanet:2435"} ! skin pigmentation disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3347/macules-hereditary-congenital-hypopigmented-and-hyperpigmented xsd:anyURI {source="GARD:0003347"} [Term] @@ -314959,7 +320257,7 @@ xref: SCTID:9057007 {source="DOID:9562"} xref: UMLS:C0008780 {source="DOID:9562", source="MONDO:equivalentTo"} xref: UMLS:C0022521 {source="NCIT:C84797", source="DOID:0050144"} is_a: MONDO:0002254 {source="MONDOLEX:0016575", source="NCIT:C84797"} ! syndromic disease -is_a: MONDO:0005308 {source="DOID:9562", source="Wikipedia:Ciliopathy"} ! ciliopathy +is_a: MONDO:0005308 {source="DOID:0050144/inferred", source="DOID:9562", source="Wikipedia:Ciliopathy"} ! ciliopathy is_a: MONDO:0015118 {source="Orphanet:244"} ! rare pulmonary disease is_a: MONDO:0015510 {source="MONDO:Entailed", source="Orphanet:244"} ! rare genetic respiratory disease is_a: MONDO:0018395 {source="Orphanet:244"} ! male infertility due to sperm motility disorder @@ -315306,7 +320604,7 @@ xref: MESH:C571912 {source="MONDO:equivalentTo"} xref: Orphanet:247257 {source="MONDO:equivalentTo"} xref: SCTID:11389007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0155866 {source="Orphanet:247257", source="ORDO:247257/e", source="MONDO:equivalentTo"} -is_a: MONDO:0005119 {source="DOID:0050160"} ! anthrax infection +is_a: MONDO:0005119 {source="DOID:0050160", source="MESH:C571912", source="linkedlifedata"} ! anthrax infection is_a: MONDO:0015575 {source="MONDO:Entailed", source="Orphanet:247257"} ! rare bacterial infectious disease [Term] @@ -315432,7 +320730,7 @@ xref: OMIM:603471 {source="ORDO:247585/e", source="Orphanet:247585", source="MON xref: Orphanet:247585 {source="MONDO:equivalentTo"} xref: SCTID:716863007 {source="MONDO:kboom-pr-0.89/0.75/0.42", source="MONDO:equivalentTo"} xref: UMLS:C1863844 {source="Orphanet:247585"} -is_a: MONDO:0015991 {source="NCIT:C150603"} ! citrullinemia +is_a: MONDO:0015991 {source="NCIT:C150603", source="Orphanet:247585/inferred"} ! citrullinemia is_a: MONDO:0016602 {source="Orphanet:247585", source="linkedlifedata"} ! citrin deficiency [Term] @@ -315706,7 +321004,7 @@ xref: OMIM:143100 {source="Orphanet:248111", source="ORDO:248111/ntbt", source=" xref: Orphanet:248111 {source="MONDO:equivalentTo"} xref: SCTID:230299004 {source="MONDO:kboom-pr-0.76/0.38/0.66", source="MONDO:equivalentTo"} xref: UMLS:C0751208 {source="ORDO:248111/e", source="Orphanet:248111", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0007739 {source="linkedlifedata"} ! Huntington disease +is_a: MONDO:0007739 {source="NCIT:C147072", source="linkedlifedata"} ! Huntington disease property_value: confidence "3.75" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10510/juvenile-huntington-disease xsd:anyURI {source="GARD:0010510"} @@ -315942,6 +321240,7 @@ synonym: "meningeal neoplasm" RELATED [DOID:3565] synonym: "meningioma" EXACT [MONDO:ambiguous, NCIT:C3230] synonym: "meningioma, NOS" RELATED EXCLUDE [NCIT:C3230] synonym: "meningothelial cell tumor" RELATED [DOID:3565] +synonym: "neoplasm of the meninges" EXACT [DOID:3565] synonym: "primary meningeal tumor" RELATED [DOID:3565] synonym: "supratentorial meningioma" RELATED [DOID:3565] xref: DOID:3565 {source="MONDO:equivalentTo"} @@ -316089,7 +321388,7 @@ xref: Orphanet:251 {source="DOID:12721", source="MONDO:equivalentTo"} xref: SCTID:205504001 {source="DOID:12721"} xref: SCTID:59708000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12721", source="MONDO:equivalentTo"} xref: UMLS:C0026760 {source="ORDO:251/e", source="Orphanet:251", source="DOID:12721"} -is_a: MONDO:0005516 {source="DOID:12721", source="linkedlifedata"} ! osteochondrodysplasia +is_a: MONDO:0005516 {source="DOID:12721", source="linkedlifedata", source="linkedlifedata/inferred"} ! osteochondrodysplasia is_a: MONDO:0019692 {source="Orphanet:251"} ! multiple epiphyseal dysplasia and pseudoachondroplasia relationship: disease_has_feature HP:0002829 ! Arthralgia @@ -316596,7 +321895,7 @@ xref: SCTID:189918008 {source="DOID:3071"} xref: SCTID:35262004 {source="DOID:3071"} xref: UMLS:C0206726 {source="Orphanet:251576", source="NCIT:C3796", source="DOID:3071", source="MONDO:equivalentTo", source="ORDO:251576/e"} is_a: MONDO:0002501 ! brain glioblastoma -is_a: MONDO:0018177 {source="MONDO:Redundant", source="NCIT:C3796/inferred", source="ONCOTREE:GSARC", source="Orphanet:251576"} ! glioblastoma (disease) +is_a: MONDO:0018177 {source="DOID:3071", source="MONDO:Redundant", source="NCIT:C3796/inferred", source="ONCOTREE:GSARC", source="Orphanet:251576"} ! glioblastoma (disease) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5653/gliosarcoma xsd:anyURI {source="GARD:0005653"} [Term] @@ -316616,7 +321915,7 @@ xref: SCTID:44529004 {source="DOID:3074"} xref: UMLS:C0334588 {source="ORDO:251579/e", source="NCIT:C4325", source="DOID:3074", source="MONDO:equivalentTo", source="Orphanet:251579"} xref: UMLS:C0334593 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002501 ! brain glioblastoma -is_a: MONDO:0018177 {source="MONDO:Redundant", source="NCIT:C4325/inferred", source="Orphanet:251579"} ! glioblastoma (disease) +is_a: MONDO:0018177 {source="DOID:3074", source="MONDO:Redundant", source="NCIT:C4325/inferred", source="Orphanet:251579"} ! glioblastoma (disease) [Term] id: MONDO:0016683 @@ -316638,7 +321937,7 @@ xref: NCIT:C4318 {source="DOID:6128", source="exact-label-match", source="MONDO: xref: Orphanet:251582 {source="MONDO:equivalentTo"} xref: SCTID:26138003 {source="DOID:6128"} xref: UMLS:C0334576 {source="NCIT:C4318", source="DOID:6128", source="Orphanet:251582", source="ORDO:251582/e", source="MONDO:equivalentTo"} -is_a: MONDO:0001657 {source="MONDO:Redundant", source="NCIT:C4318"} ! brain cancer +is_a: MONDO:0001657 {source="DOID:6128", source="MONDO:Redundant", source="NCIT:C4318"} ! brain cancer is_a: MONDO:0016680 {source="Orphanet:251582"} ! high grade astrocytic tumor property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6514/gliomatosis-cerebri xsd:anyURI {source="GARD:0006514"} @@ -317101,7 +322400,8 @@ name: glial tumor of neuroepithelial tissue with unknown origin subset: ordo_group_of_disorders {source="Orphanet:251668"} xref: Orphanet:251668 {source="MONDO:equivalentTo"} xref: UMLS:CN201948 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015917 {source="Orphanet:251668"} ! malignant glioma +is_a: MONDO:0021042 ! glioma +relationship: excluded_subClassOf MONDO:0015917 {source="Orphanet:251668"} ! malignant glioma [Term] id: MONDO:0016705 @@ -317123,19 +322423,38 @@ is_a: MONDO:0021637 {source="NCIT:C92552"} ! low grade glioma [Term] id: MONDO:0016706 -name: chordoid glioma -def: "Chordoid glioma is an extremely rare glial neoplasm occurring in the region of the anterior third ventricle or hypothalamus, which is non-infiltrative and well-circumscribed and presents most frequently in middle-aged women with symptoms of memory loss and headaches and, because of its location, has a poor prognosis due to surgical morbidity." [Orphanet:251674] +name: chordoid glioma of the third ventricle +alt_id: MONDO:0002773 +def: "A rare, slow-growing neuroepithelial neoplasm of uncertain origin affecting adults. It is located in the third ventricle. It is characterized by the presence of epithelioid cells which express GFAP, and mucinous stroma which contains lymphoplasmacytic infiltrates." [NCIT:C5592] +subset: gard_rare {source="GARD:0010636"} subset: ordo_disease {source="Orphanet:251674"} synonym: "chordoid glioma" EXACT [DOID:3774, NCIT:C5592] synonym: "chordoid glioma (morphologic abnormality)" EXACT [DOID:3774, SCTID:128789002] +synonym: "chordoid glioma of 3rd ventricle" EXACT [DOID:3773, NCIT:C6961] +synonym: "chordoid glioma of the 3rd ventricle" EXACT [NCIT:C5592] +synonym: "chordoid glioma of the third ventricle" RELATED [GARD:0010636] +synonym: "chordoid glioma of the third ventricle (who grade II)" EXACT [NCIT:C5592] +synonym: "chordoid glioma of third ventricle" EXACT [DOID:3773, SCTID:128789002] +synonym: "third ventricle chordoid glioma" EXACT [MONDO:patterns/location] +xref: DOID:3773 {source="MONDO:equivalentTo"} xref: DOID:3774 {source="MONDO:equivalentTo"} +xref: GARD:0010636 {source="MONDO:equivalentTo"} xref: ICD10:C71.9 {source="Orphanet:251674", source="ORDO:251674/ntbt"} -xref: NCIT:C5592 {source="DOID:3774", source="MONDO:superClassOf"} +xref: ICDO:9444/1 {source="NCIT:C5592"} +xref: NCIT:C5592 {source="MONDO:kboom-pr-0.90/0.76/0.60", source="DOID:3773", source="DOID:3774", source="MONDO:equivalentTo", source="MONDO:superClassOf"} +xref: ONCOTREE:CHGL {source="MONDO:equivalentTo"} xref: Orphanet:251674 {source="MONDO:equivalentTo"} -xref: SCTID:128789002 {source="DOID:3774"} +xref: SCTID:128789002 {source="DOID:3773", source="DOID:3774"} xref: SCTID:715900001 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} -xref: UMLS:C1322252 {source="DOID:3774"} +xref: UMLS:C1322252 {source="DOID:3773", source="DOID:3774", source="NCIT:C5592"} +is_a: MONDO:0002682 {source="DOID:3773", source="MONDO:Entailed", source="NCIT:C5592"} ! cerebral ventricle cancer +is_a: MONDO:0005499 {source="DOID:3773", source="MONDO:Entailed"} ! brain glioma is_a: MONDO:0016704 {source="Orphanet:251674"} ! glial tumor of neuroepithelial tissue with unknown origin +is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C5592"} ! glioma +relationship: disease_has_location UBERON:0002286 ! third ventricle +relationship: excluded_subClassOf MONDO:0016706 {source="DOID:3773"} ! chordoid glioma of the third ventricle +relationship: has_modifier MONDO:0024492 {source="NCIT:C5592"} ! tumor grade 2, general grading system +property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10636/chordoid-glioma-of-the-third-ventricle xsd:anyURI {source="GARD:0010636"} [Term] id: MONDO:0016707 @@ -317158,8 +322477,8 @@ xref: Orphanet:251679 {source="MONDO:equivalentTo"} xref: SCTID:48952003 {source="DOID:7305"} xref: UMLS:C0334587 {source="NCIT:C4324", source="DOID:7305", source="ORDO:251679/e", source="MONDO:equivalentTo", source="Orphanet:251679"} is_a: MONDO:0016704 {source="Orphanet:251679"} ! glial tumor of neuroepithelial tissue with unknown origin -is_a: MONDO:0019781 {source="DOID:7305"} ! astrocytoma (excluding glioblastoma) is_a: MONDO:0021042 {source="MONDO:Redundant", source="NCIT:C4324"} ! glioma +relationship: excluded_subClassOf MONDO:0019781 {source="DOID:7305"} ! astrocytoma (excluding glioblastoma) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10635/astroblastoma xsd:anyURI {source="GARD:0010635"} [Term] @@ -317322,7 +322641,7 @@ xref: ONCOTREE:CPT {source="MONDO:equivalentTo"} xref: Orphanet:251896 {source="MONDO:equivalentTo"} xref: SCTID:254942002 {source="MONDO:kboom-pr-0.94/0.83/0.97", source="MONDO:equivalentTo"} xref: UMLS:C0085138 {source="ORDO:251896/e", source="NCIT:C3473", source="Orphanet:251896", source="MONDO:equivalentTo"} -is_a: MONDO:0005560 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-05", source="linkedlife", source="linkedlifedata"} ! brain disease +is_a: MONDO:0005560 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C3473/inferred", source="OWLReasoner:Elk-2018-01-05"} ! central nervous system neoplasm is_a: MONDO:0021211 {source="MONDO:Entailed", source="NCIT:C3473/inferred", source="OWLReasoner:Elk-2018-01-09"} ! brain neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) @@ -317363,8 +322682,8 @@ xref: SCTID:188292007 {source="MONDO:kboom-pr-0.92/0.76/0.97", source="DOID:5648 xref: SCTID:88252006 {source="DOID:5648"} xref: UMLS:C0346289 {source="DOID:5648"} xref: UMLS:C0431109 {source="DOID:5648", source="NCIT:C4715", source="ORDO:251899/e", source="Orphanet:251899"} -is_a: MONDO:0002681 {source="MONDOLEX:0016718", source="NCIT:C4715"} ! choroid plexus cancer -is_a: MONDO:0004993 {source="MESH:C562943", source="MONDO:Entailed", source="MONDOLEX:0016718", source="NCIT:C4715/inferred", source="OWLReasoner:Elk-2018"} ! carcinoma +is_a: MONDO:0002681 {source="DOID:5648", source="MONDOLEX:0016718", source="NCIT:C4715"} ! choroid plexus cancer +is_a: MONDO:0004993 {source="DOID:5648", source="MESH:C562943", source="MONDO:Entailed", source="MONDOLEX:0016718", source="NCIT:C4715/inferred", source="OWLReasoner:Elk-2018"} ! carcinoma is_a: MONDO:0016717 {source="MONDO:Redundant", source="NCIT:C4715/inferred", source="ONCOTREE:CPC", source="OWLReasoner:2017", source="Orphanet:251899", source="linkedlifedata"} ! choroid plexus neoplasm intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_arises_from_structure UBERON:0003911 ! choroid plexus epithelium @@ -317460,9 +322779,9 @@ xref: ONCOTREE:PINC {source="MONDO:equivalentTo"} xref: Orphanet:251912 {source="MONDO:equivalentTo"} xref: SCTID:255045009 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0917890 {source="ORDO:251912/e", source="NCIT:C6966", source="Orphanet:251912", source="MONDO:equivalentTo"} -is_a: MONDO:0000627 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! benign endocrine neoplasm +is_a: MONDO:0000627 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign endocrine neoplasm is_a: MONDO:0016721 {source="Orphanet:251912"} ! pineal tumor of neuroepithelial tissue -is_a: MONDO:0021451 {source="MONDO:Entailed", source="NCIT:C6966/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of brain +is_a: MONDO:0021451 {source="MONDO:Entailed", source="NCIT:C6966/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of brain is_a: MONDO:0024890 {source="NCIT:C6966"} ! pineal parenchymal cell neoplasm relationship: has_modifier PATO:0002096 {source="NCIT:C6966"} ! neoplastic, non-malignant @@ -317973,7 +323292,7 @@ xref: SCTID:189947001 {source="DOID:962"} xref: SCTID:404029005 {source="DOID:962", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: SCTID:89084002 {source="DOID:962"} xref: UMLS:C0027830 {source="DOID:962", source="ORDO:252183/e", source="Orphanet:252183", source="NCIT:C3272", source="MONDO:equivalentTo"} -is_a: MONDO:0001406 {source="MESH:D009455/inferred", source="MONDO:Redundant", source="NCIT:C3272", source="ONCOTREE:NFIB/inferred"} ! peripheral nervous system neoplasm +is_a: MONDO:0001406 {source="DOID:962/inferred", source="MESH:D009455/inferred", source="MONDO:Redundant", source="NCIT:C3272", source="ONCOTREE:NFIB/inferred"} ! peripheral nervous system neoplasm is_a: MONDO:0002547 {source="DOID:962", source="MESH:D009455", source="NCIT:C3272", source="ONCOTREE:NFIB"} ! nerve sheath neoplasm is_a: MONDO:0016752 {source="Orphanet:252183"} ! benign peripheral nerve sheath tumor property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7191/neurofibroma xsd:anyURI {source="GARD:0007191"} @@ -318053,7 +323372,7 @@ xref: Orphanet:2524 {source="MONDO:equivalentTo"} xref: SCTID:715463008 {source="MONDO:kboom-pr-1.00/0.79/8.20", source="MONDO:equivalentTo"} xref: UMLS:C2932714 {source="ORDO:2524/e", source="Orphanet:2524", source="NCIT:C124057", source="MONDO:equivalentTo"} is_a: MONDO:0016131 {source="Orphanet:2524"} ! spinal muscular atrophy associated with central nervous system anomaly -is_a: MONDO:0020135 {source="Orphanet:2524"} ! non-syndromic pontocerebellar hypoplasia +is_a: MONDO:0020135 {source="Orphanet:2524", source="linkedlifedata"} ! non-syndromic pontocerebellar hypoplasia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10705/pontocerebellar-hypoplasia-type-2 xsd:anyURI {source="GARD:0010705"} [Term] @@ -318355,7 +323674,7 @@ xref: Orphanet:254492 {source="MONDO:equivalentTo"} xref: SCTID:717055000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1274700 {source="ORDO:254492/e", source="Orphanet:254492"} xref: UMLS:C4255374 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004907 {source="Orphanet:254492", source="linkedlifedata"} ! alopecia +is_a: MONDO:0004907 {source="Orphanet:254492", source="linkedlifedata", source="linkedlifedata/inferred"} ! alopecia is_a: MONDO:0016767 {source="Orphanet:254492"} ! rare cutaneous lichen planus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10886/frontal-fibrosing-alopecia xsd:anyURI {source="GARD:0010886"} @@ -318449,7 +323768,7 @@ xref: SCTID:416402001 {source="MONDO:kboom-pr-0.90/0.75/0.51", source="MONDO:equ xref: UMLS:C1135868 {source="Orphanet:254685", source="MONDO:superClassOf"} xref: UMLS:C2931618 {source="Orphanet:254685", source="ORDO:254685/e"} is_a: MONDO:0020037 {source="Orphanet:254685"} ! rare gynecological tumor -is_a: MONDO:0024575 {source="MONDO:cjm", source="linkedlife/inferred"} ! pregnancy disorder +is_a: MONDO:0024575 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! pregnancy disorder union_of: MONDO:0006248 ! hydatidiform mole union_of: MONDO:0018944 ! gestational trophoblastic neoplasm @@ -318986,9 +324305,10 @@ xref: NCIT:C85505 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equiva xref: Orphanet:2583 {source="MONDO:equivalentTo"} xref: SCTID:410039003 {source="MONDO:kboom-pr-0.85/0.67/0.26", source="MONDO:equivalentTo"} xref: UMLS:C0024449 {source="Orphanet:2583", source="NCIT:C85505", source="ORDO:2583/e", source="MONDO:equivalentTo"} -is_a: MONDO:0005550 {source="MONDO:Redundant", source="NCIT:C85505", source="linkedlifedata"} ! infectious disease +is_a: MONDO:0005550 {source="MONDO:Redundant", source="NCIT:C85505", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease is_a: MONDO:0015575 {source="Orphanet:2583"} ! rare bacterial infectious disease is_a: MONDO:0015578 {source="Orphanet:2583"} ! rare mycosis +relationship: disease_has_location UBERON:0002072 {source="disease_has_location UBERON:0002072 ! hypodermis"} ! hypodermis [Term] id: MONDO:0016824 @@ -319015,7 +324335,7 @@ xref: Orphanet:2591 {source="DOID:0080109", source="MONDO:equivalentTo"} xref: SCTID:254146000 {source="GARD:0002998", source="MONDO:superClassOf"} xref: UMLS:C0206648 {source="NCIT:C3742", source="MONDO:equivalentTo"} xref: UMLS:C0432284 {source="Orphanet:2591", source="ORDO:2591/e"} -is_a: MONDO:0000654 {source="DOID:0080109"} ! benign connective and soft tissue neoplasm +is_a: MONDO:0000654 {source="DOID:0080109", source="NCIT:C3742/inferred"} ! benign connective and soft tissue neoplasm is_a: MONDO:0003342 {source="NCIT:C3742"} ! benign perivascular tumor is_a: MONDO:0015950 {source="Orphanet:2591"} ! inherited skin tumor is_a: MONDO:0016123 {source="Orphanet:2591"} ! muscular tumor @@ -319149,7 +324469,7 @@ xref: SCTID:193233004 {source="DOID:11726"} xref: UMLS:C0410189 {source="ORDO:261/e", source="DOID:11726", source="NCIT:C84685", source="Orphanet:261", source="MONDO:equivalentTo"} is_a: MONDO:0016106 {source="Orphanet:261"} ! progressive muscular dystrophy is_a: MONDO:0016334 {source="Orphanet:261"} ! neuromuscular disease with dilated cardiomyopathy -is_a: MONDO:0020121 {source="MESH:D020389", source="MONDO:Redundant", source="NCIT:C84685", source="Orphanet:261/inferred", source="linkedlifedata"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:11726", source="MESH:D020389", source="MONDO:Redundant", source="NCIT:C84685", source="Orphanet:261/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy [Term] id: MONDO:0016831 @@ -321206,6 +326526,7 @@ def: "Limb-girdle muscular dystrophy (LGMD) is a heterogeneous group of muscular subset: gard_rare {source="GARD:0006907"} subset: ordo_group_of_disorders {source="Orphanet:263"} synonym: "erb's muscular dystrophy" EXACT [DOID:11724] +synonym: "Leyden-Mbius muscular dystrophy" EXACT [DOID:11724] synonym: "Leyden-Mobius muscular dystrophy" EXACT [DOID:11724, SCTID:93153005] synonym: "LGMD" EXACT [Orphanet:263] synonym: "limb girdle muscular dystrophy" EXACT [CSP2005:1849-6662, DOID:11724] @@ -321221,7 +326542,7 @@ xref: SCTID:93153005 {source="DOID:11724"} xref: UMLS:C0270950 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} xref: UMLS:C0686353 {source="DOID:11724", source="ORDO:263/e", source="Orphanet:263", source="MONDO:equivalentTo", source="NCIT:C84828"} is_a: MONDO:0016106 {source="Orphanet:263"} ! progressive muscular dystrophy -is_a: MONDO:0020121 {source="MESH:D049288", source="MONDO:Redundant", source="NCIT:C84828", source="Orphanet:263/inferred", source="linkedlifedata"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:11724", source="MESH:D049288", source="MONDO:Redundant", source="NCIT:C84828", source="Orphanet:263/inferred", source="linkedlifedata"} ! muscular dystrophy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6907/limb-girdle-muscular-dystrophy xsd:anyURI {source="GARD:0006907"} [Term] @@ -321323,8 +326644,7 @@ synonym: "microcornea-rod-cone dystrophy-cataract-posterior staphyloma syndrome" xref: OMIM:193220 {source="ORDO:263347/ntbt", source="MONDO:subClassOf", source="Orphanet:263347"} xref: Orphanet:263347 {source="MONDO:equivalentTo"} xref: UMLS:C2674009 {source="Orphanet:263347"} -is_a: MONDO:0008662 ! autosomal dominant vitreoretinochoroidopathy -is_a: MONDO:0019118 {source="Orphanet:263347"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:263347"} ! inherited retinal dystrophy is_a: MONDO:0020225 {source="Orphanet:263347"} ! syndromic cataract property_value: confidence "2.461538461538462" xsd:double @@ -321376,7 +326696,7 @@ xref: SCTID:403977003 {source="DOID:0001816", source="EFO:0003968", source="MOND xref: UMLS:C0018923 {source="DOID:0001816", source="NCIT:C3088", source="MEDGEN:kboom-pr98-c99", source="Orphanet:263413", source="MONDO:equivalentTo"} xref: UMLS:C0854893 {source="DOID:0001816"} is_a: MONDO:0002095 {source="MESH:D006394", source="MONDO:Entailed", source="NCIT:C3088"} ! vascular cancer -is_a: MONDO:0005089 {source="EFO:0003967", source="EFO:0003968/inferred", source="MESH:D006394", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C3088", source="linkedlifedata"} ! sarcoma +is_a: MONDO:0005089 {source="DOID:0001816", source="EFO:0003967", source="EFO:0003968/inferred", source="MESH:D006394", source="MONDO:Entailed", source="MONDO:Redundant", source="NCIT:C3088", source="linkedlifedata"} ! sarcoma is_a: MONDO:0016228 {source="Orphanet:263413"} ! rare vascular tumor is_a: MONDO:0018078 {source="Orphanet:263413"} ! soft tissue sarcoma intersection_of: MONDO:0005089 ! sarcoma @@ -321404,7 +326724,7 @@ def: "Nevus of Ota is an oculodermal melanocytosis more commonly found in Asian subset: ordo_disease {source="Orphanet:263425"} synonym: "Nevus fusculoceruleus ophthalmomaxillaris" EXACT [Orphanet:263425] synonym: "oculocutaneous melanocytic Nevus" EXACT [NCIT:C7583] -synonym: "Oculodermal melanocytosis" EXACT [NCIT:C7583] +synonym: "oculodermal melanocytosis" EXACT [NCIT:C7583] synonym: "Ota's Nevus" EXACT [NCIT:C7583] xref: EFO:1000396 {source="MONDO:equivalentTo"} xref: ICD10:D22.3 {source="Orphanet:263425", source="ORDO:263425/ntbt"} @@ -321770,9 +327090,12 @@ is_a: MONDO:0016945 {source="MONDOLEX:0017013", source="Orphanet:264450"} ! part [Term] id: MONDO:0017014 name: interstitial lung disease specific to childhood +def: "A interstitial lung disease that occurs during childhood." [MONDO:design_pattern] subset: ordo_group_of_disorders {source="Orphanet:264656"} synonym: "childhood interstitial lung disease" EXACT [] synonym: "ILD specific to childhood" EXACT [Orphanet:264656] +synonym: "interstitial lung disease of childhood" EXACT [MONDO:design_pattern] +synonym: "pediatric interstitial lung disease" EXACT [MONDO:design_pattern] xref: Orphanet:264656 {source="MONDO:equivalentTo"} xref: UMLS:CN202324 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015925 {source="MONDOLEX:0017014", source="Orphanet:264656"} ! interstitial lung disease @@ -322352,7 +327675,10 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12452/autosom [Term] id: MONDO:0017059 name: neural tube closure defect +def: "A disease that has its basis in the disruption of neural tube closure." [MONDO:design_pattern] subset: ordo_group_of_disorders {source="Orphanet:268357"} +synonym: "disorder of neural tube closure" EXACT [MONDO:design_pattern] +synonym: "neural tube closure disease" EXACT [MONDO:design_pattern] xref: OMIM:182940 {source="ORDO:268357/btnt", source="Orphanet:268357", source="MONDO:superClassOf"} xref: OMIM:301410 {source="ORDO:268357/btnt", source="Orphanet:268357", source="MONDO:superClassOf"} xref: OMIM:601634 {source="ORDO:268357/btnt", source="Orphanet:268357", source="MONDO:superClassOf"} @@ -322572,7 +327898,7 @@ xref: NCIT:C84687 {source="MONDO:equivalentTo"} xref: Orphanet:268817 {source="MONDO:equivalentTo"} xref: SCTID:55999004 {source="MONDO:kboom-pr-1.00/0.74/5.75", source="MONDO:equivalentTo"} xref: UMLS:C0014065 {source="Orphanet:268817"} -is_a: MONDO:0002320 {source="NCIT:C84687"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="NCIT:C84687"} ! congenital nervous system disorder is_a: MONDO:0017059 {source="Orphanet:268817"} ! neural tube closure defect [Term] @@ -322596,7 +327922,7 @@ xref: SCTID:52330001 {source="MONDO:equivalentTo"} xref: UMLS:C0009694 {source="NCIT:C124517", source="Orphanet:268820", source="ORDO:268820/e", source="MONDO:equivalentTo"} xref: UMLS:C0266456 {source="GARD:0003473"} is_a: MONDO:0001147 {source="NCIT:C124517"} ! meningocele (disease) -is_a: MONDO:0017078 {source="Orphanet:268820"} ! cephalocele (disease) +is_a: MONDO:0017078 {source="Orphanet:268820", source="linkedlifedata"} ! cephalocele (disease) intersection_of: MONDO:0017078 ! cephalocele (disease) intersection_of: disease_has_location UBERON:0003547 ! brain meninx @@ -322734,7 +328060,7 @@ xref: ICD10:Q04.3 {source="Orphanet:268943", source="ORDO:268943/attributed", so xref: Orphanet:268943 {source="MONDO:equivalentTo"} xref: SCTID:715905006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C4024960 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000087 {source="Orphanet:268943"} ! polymicrogyria +is_a: MONDO:0000087 {source="Orphanet:268943", source="linkedlifedata"} ! polymicrogyria [Term] id: MONDO:0017093 @@ -323042,7 +328368,7 @@ xref: Orphanet:2697 {source="MONDO:equivalentTo"} xref: SCTID:720513002 {source="MONDO:equivalentTo"} xref: UMLS:C1859722 {source="ORDO:2697/e", source="Orphanet:2697"} is_a: MONDO:0002254 {source="DOID:0050763", source="MONDO:Redundant"} ! syndromic disease -is_a: MONDO:0008823 {source="linkedlife"} ! neurogenic arthrogryposis multiplex congenita +is_a: MONDO:0008823 {source="linkedlifedata"} ! neurogenic arthrogryposis multiplex congenita is_a: MONDO:0015168 {source="Orphanet:2697"} ! arthrogryposis multiplex congenita is_a: MONDO:0017273 {source="Orphanet:2697"} ! autosomal ichthyosis syndrome with fatal disease course is_a: MONDO:0017755 {source="Orphanet:2697"} ! inborn disorder of bilirubin metabolism @@ -323235,8 +328561,8 @@ xref: Orphanet:2733 {source="DOID:0060288", source="MONDO:equivalentTo"} xref: UMLS:C1850318 {source="DOID:0060288", source="MONDO:superClassOf"} xref: UMLS:C2750355 {source="DOID:0060288"} xref: UMLS:C4510897 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0005516 {source="DOID:0060288"} ! osteochondrodysplasia is_a: MONDO:0019697 {source="Orphanet:2733"} ! mesomelic and rhizo-mesomelic dysplasia +relationship: excluded_subClassOf MONDO:0005516 {source="DOID:0060288"} ! osteochondrodysplasia [Term] id: MONDO:0017137 @@ -323267,8 +328593,8 @@ xref: Orphanet:2737 {source="MONDO:equivalentTo"} xref: SCTID:38539003 {source="DOID:11678", source="MONDO:equivalentTo"} xref: UMLS:C0029001 {source="DOID:11678", source="NCIT:C34861", source="Orphanet:2737", source="ORDO:2737/e", source="MONDO:equivalentTo"} xref: UMLS:C0029002 {source="Orphanet:2737", source="ORDO:2737/e", source="MONDO:superClassOf"} -is_a: MONDO:0005135 {source="MESH:D009855/inferred", source="MONDO:Redundant", source="NCIT:C34861"} ! parasitic infection -is_a: MONDO:0016075 {source="DOID:11678", source="MESH:D009855", source="Orphanet:2737", source="linkedlife"} ! filariasis +is_a: MONDO:0005135 {source="DOID:11678/inferred", source="MESH:D009855/inferred", source="MONDO:Redundant", source="NCIT:C34861", source="linkedlifedata/inferred"} ! parasitic infection +is_a: MONDO:0016075 {source="DOID:11678", source="MESH:D009855", source="Orphanet:2737", source="linkedlifedata"} ! filariasis is_a: MONDO:0019519 {source="OWLReasoner:2017"} ! rare skin disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:6282 ! Onchocerca volvulus @@ -323510,7 +328836,7 @@ xref: Orphanet:275798 {source="MONDO:equivalentTo"} xref: SCTID:697903007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C3697982 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} xref: UMLS:CN202578 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0017150 {source="Orphanet:275798"} ! pulmonary arterial hypertension associated with another disease +is_a: MONDO:0017150 {source="EFO:0009196", source="Orphanet:275798"} ! pulmonary arterial hypertension associated with another disease [Term] id: MONDO:0017152 @@ -323525,7 +328851,7 @@ xref: Orphanet:275803 {source="MONDO:equivalentTo"} xref: SCTID:697905000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C3697119 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} xref: UMLS:CN243982 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0017150 {source="Orphanet:275803"} ! pulmonary arterial hypertension associated with another disease +is_a: MONDO:0017150 {source="EFO:0009054", source="Orphanet:275803"} ! pulmonary arterial hypertension associated with another disease [Term] id: MONDO:0017153 @@ -323539,7 +328865,7 @@ xref: ICD9:416.8 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:275808 {source="MONDO:equivalentTo"} xref: SCTID:697904001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C3697673 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0017150 {source="Orphanet:275808"} ! pulmonary arterial hypertension associated with another disease +is_a: MONDO:0017150 {source="EFO:0009194", source="Orphanet:275808"} ! pulmonary arterial hypertension associated with another disease [Term] id: MONDO:0017154 @@ -323554,7 +328880,7 @@ xref: ICD10:I27.2 {source="Orphanet:275813", source="ORDO:275813/ntbt"} xref: Orphanet:275813 {source="MONDO:equivalentTo"} xref: SCTID:445237003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1868851 {source="Orphanet:275813", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0017150 {source="Orphanet:275813"} ! pulmonary arterial hypertension associated with another disease +is_a: MONDO:0017150 {source="EFO:0009197", source="Orphanet:275813"} ! pulmonary arterial hypertension associated with another disease [Term] id: MONDO:0017155 @@ -323568,7 +328894,7 @@ xref: ICD9:416.8 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:275823 {source="MONDO:equivalentTo"} xref: SCTID:697907008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C3697477 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0017150 {source="Orphanet:275823"} ! pulmonary arterial hypertension associated with another disease +is_a: MONDO:0017150 {source="EFO:0009198", source="Orphanet:275823"} ! pulmonary arterial hypertension associated with another disease [Term] id: MONDO:0017156 @@ -323582,7 +328908,7 @@ xref: ICD9:416.8 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:275828 {source="MONDO:equivalentTo"} xref: SCTID:697908003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C3698315 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0017150 {source="Orphanet:275828"} ! pulmonary arterial hypertension associated with another disease +is_a: MONDO:0017150 {source="EFO:0009195", source="Orphanet:275828"} ! pulmonary arterial hypertension associated with another disease [Term] id: MONDO:0017157 @@ -323761,7 +329087,7 @@ xref: OMIMPS:131100 {source="DC:0000291", source="MONDO:equivalentTo"} xref: Orphanet:276161 {source="MONDO:equivalentTo"} xref: SCTID:46724008 {source="MONDO:kboom-pr-1.00/0.81/10.37", source="MONDO:equivalentTo"} xref: UMLS:C0027662 {source="ORDO:276161/e", source="NCIT:C6432", source="MONDO:equivalentTo", source="Orphanet:276161"} -is_a: MONDO:0002082 {source="MONDO:Redundant", source="NCIT:C6432", source="Orphanet:276161/inferred", source="linkedlife/inferred"} ! endocrine gland neoplasm +is_a: MONDO:0002082 {source="MONDO:Redundant", source="NCIT:C6432", source="Orphanet:276161/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! endocrine gland neoplasm is_a: MONDO:0015079 {source="Orphanet:276161"} ! multiple polyglandular tumor is_a: MONDO:0021058 {source="NCIT:C6432"} ! neoplastic syndrome is_a: MONDO:0021635 {source="https://en.wikipedia.org/wiki/Neurocristopathy"} ! neurocristopathy @@ -323832,7 +329158,7 @@ xref: ICD10:G11.8 {source="ORDO:276238/attributed", source="ORDO:276238/ntbt", s xref: Orphanet:276238 {source="MONDO:equivalentTo"} xref: SCTID:91953003 {source="MONDO:equivalentTo"} xref: UMLS:C0751668 {source="Orphanet:276238", source="ORDO:276238/e"} -is_a: MONDO:0007182 {source="Orphanet:276238", source="linkedlife"} ! Machado-Joseph disease +is_a: MONDO:0007182 {source="Orphanet:276238", source="linkedlifedata"} ! Machado-Joseph disease [Term] id: MONDO:0017175 @@ -323846,7 +329172,7 @@ xref: ICD10:G11.8 {source="ORDO:276241/ntbt", source="ORDO:276241/attributed", s xref: Orphanet:276241 {source="MONDO:equivalentTo"} xref: SCTID:91954009 {source="MONDO:equivalentTo"} xref: UMLS:C0751669 {source="Orphanet:276241", source="ORDO:276241/e"} -is_a: MONDO:0007182 {source="Orphanet:276241", source="linkedlife"} ! Machado-Joseph disease +is_a: MONDO:0007182 {source="Orphanet:276241", source="linkedlifedata"} ! Machado-Joseph disease [Term] id: MONDO:0017176 @@ -323860,7 +329186,7 @@ xref: ICD10:G11.8 {source="Orphanet:276244", source="ORDO:276244/ntbt", source=" xref: Orphanet:276244 {source="MONDO:equivalentTo"} xref: SCTID:91955005 {source="MONDO:equivalentTo"} xref: UMLS:C0751670 {source="ORDO:276244/e", source="Orphanet:276244"} -is_a: MONDO:0007182 {source="Orphanet:276244", source="linkedlife"} ! Machado-Joseph disease +is_a: MONDO:0007182 {source="Orphanet:276244", source="linkedlifedata"} ! Machado-Joseph disease [Term] id: MONDO:0017177 @@ -323921,7 +329247,7 @@ xref: SCTID:82562007 {source="DOID:84", source="MONDO:kboom-pr-0.89/0.77/0.18", xref: UMLS:C0029420 {source="DOID:84"} xref: UMLS:C0029421 {source="NCBI:mim2gene_medline", source="ORDO:2764/e", source="DOID:84", source="Orphanet:2764", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} xref: UMLS:C3665488 {source="Orphanet:251262", source="OMIM:165800"} -is_a: MONDO:0005380 {source="MONDO:Redundant", source="Orphanet:251262", source="Orphanet:2764"} ! osteonecrosis +is_a: MONDO:0005380 {source="DOID:84", source="MONDO:Redundant", source="Orphanet:251262", source="Orphanet:2764"} ! osteonecrosis is_a: MONDO:0018239 {source="Orphanet:251262"} ! aggrecan-related bone disorder is_a: MONDO:0018383 {source="MONDO:Entailed", source="Orphanet:251262"} ! osteonecrosis of genetic origin relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/319 {source="mim2gene_medgen"} ! ACAN @@ -323945,7 +329271,7 @@ synonym: "trisomy 10q22.3q23.3" EXACT [Orphanet:276422] xref: ICD10:Q92.3 {source="ORDO:276422/ntbt", source="Orphanet:276422", source="ORDO:276422/attributed"} xref: Orphanet:276422 {source="MONDO:equivalentTo"} xref: UMLS:CN202619 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0016961 ! partial duplication of the long arm of chromosome 10 +is_a: MONDO:0016961 {source="Orphanet:276422"} ! partial duplication of the long arm of chromosome 10 [Term] id: MONDO:0017181 @@ -324419,8 +329745,8 @@ xref: Orphanet:279922 {source="MONDO:equivalentTo"} xref: SCTID:193487008 {source="DOID:9389", source="MONDO:kboom-pr-0.90/0.77/0.29", source="MONDO:equivalentTo"} xref: SCTID:89114005 {source="DOID:9389"} xref: UMLS:C0154911 {source="DOID:9389", source="MONDO:equivalentTo"} -is_a: MONDO:0004773 {source="DOID:9389", source="MONDOLEX:0017210", source="linkedlifedata"} ! iridocyclitis (disease) -is_a: MONDO:0005550 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata"} ! infectious disease +is_a: MONDO:0004773 {source="DOID:9389", source="MONDOLEX:0017210", source="linkedlifedata", source="linkedlifedata/inferred"} ! iridocyclitis (disease) +is_a: MONDO:0005550 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_inflammation_site UBERON:0011892 ! anterior uvea @@ -324867,7 +330193,7 @@ xref: GARD:0012428 {source="Orphanet-shared", source="MONDO:equivalentTo"} xref: Orphanet:280779 {source="MONDO:equivalentTo"} xref: SCTID:718634003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C4305323 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0019293 {source="Orphanet:280779"} ! skin vascular disease +is_a: MONDO:0019293 {source="Orphanet:280779", source="linkedlifedata/inferred"} ! skin vascular disease [Term] id: MONDO:0017243 @@ -325169,6 +330495,7 @@ def: "X-linked form of inherited ichthyosis syndromic form." [MONDO:patterns/x_l comment: Editor note: check relationship to syndromic recessive X-linked ichthyosis subset: ordo_group_of_disorders {source="Orphanet:281210"} synonym: "inherited ichthyosis syndromic form, X-linked" EXACT [MONDO:patterns/x_linked] +synonym: "X-linked inherited ichthyosis syndromic form" EXACT [MONDO:design_pattern] xref: MedDRA:10048063 {source="Orphanet:281210", source="ORDO:281210/e"} xref: Orphanet:281210 {source="MONDO:equivalentTo"} xref: UMLS:C0079588 {source="Orphanet:281210", source="ORDO:281210/e", source="MONDO:relatedTo"} @@ -325259,7 +330586,7 @@ xref: Orphanet:282 {source="DOID:9255", source="MONDO:equivalentTo"} xref: SCTID:42369001 {source="DOID:9255"} xref: UMLS:C0338451 {source="NCIT:C84719", source="ORDO:282/e", source="Orphanet:282", source="MONDO:equivalentTo"} xref: UMLS:C0520716 {source="MEDGEN:kboom-pr87-c94", source="DOID:9255", source="MONDO:equivalentTo"} -is_a: MONDO:0001627 {source="MESH:D057180/inferred", source="MONDO:Redundant", source="NCIT:C84719"} ! dementia +is_a: MONDO:0001627 {source="DOID:9255", source="MESH:D057180/inferred", source="MONDO:Redundant", source="NCIT:C84719"} ! dementia is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:282", source="Orphanet:282/inferred"} ! genetic dementia is_a: MONDO:0015952 {source="MONDO:Redundant", source="Orphanet:282", source="Orphanet:282/inferred"} ! genetic neurodegenerative disease is_a: MONDO:0020137 {source="Orphanet:282"} ! frontotemporal degeneration with dementia @@ -325303,7 +330630,7 @@ xref: SCTID:190568004 {source="DOID:14040"} xref: SCTID:41864002 {source="DOID:14040", source="MONDO:kboom-pr-0.89/0.77/0.21", source="MONDO:equivalentTo"} xref: UMLS:C0085409 {source="DOID:14040", source="NCIT:C84576", source="MEDGEN:kboom-pr98-c98", source="ORDO:282196/e", source="Orphanet:282196", source="MONDO:equivalentTo"} xref: UMLS:C4316913 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"} -is_a: MONDO:0000569 {source="DOID:14040", source="linkedlife"} ! autoimmune disease of endocrine system +is_a: MONDO:0000569 {source="DOID:14040", source="linkedlifedata"} ! autoimmune disease of endocrine system is_a: MONDO:0002254 {source="MONDOLEX:0017278", source="NCIT:C129726"} ! syndromic disease is_a: MONDO:0015126 {source="Orphanet:282196"} ! polyendocrinopathy intersection_of: MONDO:0015126 ! polyendocrinopathy @@ -325764,7 +331091,7 @@ xref: OMIM:610168 {source="ORDO:284973/ntbt", source="Orphanet:284973", source=" xref: Orphanet:284973 {source="MONDO:equivalentTo"} xref: UMLS:C2698016 {source="NCIT:C75007", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C2931058 {source="ORDO:284973/e", source="Orphanet:284973", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0007947 {source="NCIT:C75007", source="Orphanet:284973"} ! Marfan syndrome +is_a: MONDO:0007947 {source="MESH:C535911", source="NCIT:C75007", source="Orphanet:284973"} ! Marfan syndrome is_a: MONDO:0012427 ! Loeys-Dietz syndrome 2 property_value: confidence "0.014130103558823048" xsd:double @@ -325988,7 +331315,7 @@ xref: OMIM:261680 {source="Orphanet:2880", source="ORDO:2880/btnt", source="MOND xref: Orphanet:2880 {source="MONDO:equivalentTo"} xref: SCTID:5335002 {source="MONDO:kboom-pr-1.00/0.81/11.46", source="MONDO:equivalentTo"} xref: UMLS:C0268194 {source="NCIT:C99015", source="Orphanet:2880", source="ORDO:2880/e", source="MONDO:equivalentTo"} -is_a: MONDO:0019214 {source="NCIT:C99015", source="Orphanet:2880/inferred"} ! inborn carbohydrate metabolic disorder +is_a: MONDO:0019214 {source="MESH:C536654", source="NCIT:C99015", source="Orphanet:2880/inferred"} ! inborn carbohydrate metabolic disorder is_a: MONDO:0019225 {source="Orphanet:2880"} ! gluconeogenesis disorder [Term] @@ -326033,6 +331360,7 @@ name: autosomal recessive hypophosphatemic rickets def: "Autosomal recessive hypophosphatemic rickets (ARHR) is a hereditary renal phosphate-wasting disorder characterized by hypophosphatemia, rickets and/or osteomalacia and slow growth." [Orphanet:289176] subset: ordo_disease {source="Orphanet:289176"} synonym: "ARHR" EXACT [Orphanet:289176] +synonym: "autosomal recessive hereditary hypophosphatemic rickets" EXACT [MONDO:design_pattern] synonym: "hereditary hypophosphatemic rickets, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] synonym: "hypophosphatemic rickets, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] xref: DOID:0050949 {source="MONDO:equivalentTo"} @@ -326044,7 +331372,7 @@ xref: SCTID:90505000 {source="MONDO:kboom-pr-1.00/0.79/7.51", source="MONDO:equi xref: UMLS:CN202957 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000044 {source="MONDO:Entailed", source="MONDOLEX:0017324", source="Orphanet:289176"} ! hereditary hypophosphatemic rickets is_a: MONDO:0005520 {source="DOID:0050949", source="MONDO:Redundant", source="linkedlifedata"} ! rickets (disease) -is_a: MONDO:0006025 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal recessive disease +is_a: MONDO:0006025 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! autosomal recessive disease intersection_of: MONDO:0000044 ! hereditary hypophosphatemic rickets intersection_of: has_modifier HP:0000007 ! Autosomal recessive inheritance @@ -326086,7 +331414,7 @@ xref: Orphanet:289356 {source="MONDO:equivalentTo"} xref: SCTID:716588005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C4274424 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} xref: UMLS:CN202967 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0018171 {source="Orphanet:289356", source="linkedlifedata"} ! malignant germ cell tumor of ovary +is_a: MONDO:0018171 {source="Orphanet:289356", source="linkedlifedata", source="linkedlifedata/inferred"} ! malignant germ cell tumor of ovary [Term] id: MONDO:0017328 @@ -326391,7 +331719,7 @@ xref: ICD9:270.2 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:289829 {source="MONDO:equivalentTo"} xref: SCTID:5181007 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:CN203012 {source="MONDO:equivalentTo"} -is_a: MONDO:0019189 {source="Orphanet:289829", source="linkedlife"} ! inborn disorder of amino acid and other organic acid metabolism +is_a: MONDO:0019189 {source="Orphanet:289829", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0006568 ! tryptophan metabolic process @@ -326405,7 +331733,7 @@ xref: ICD9:270.7 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:270.8 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:289832 {source="MONDO:equivalentTo"} xref: SCTID:237929000 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} -is_a: MONDO:0019189 {source="Orphanet:289832", source="linkedlife"} ! inborn disorder of amino acid and other organic acid metabolism +is_a: MONDO:0019189 {source="Orphanet:289832", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism is_a: MONDO:0037938 {source="MONDO:cjm"} ! inborn disorder of aspartate family metabolism [Term] @@ -326417,7 +331745,7 @@ xref: ICD9:270.7 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:289841 {source="MONDO:equivalentTo"} xref: SCTID:190724004 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0342669 {source="Orphanet:289841", source="ORDO:289841/e", source="MONDO:equivalentTo"} -is_a: MONDO:0019189 {source="MONDO:Entailed", source="Orphanet:289841", source="linkedlife"} ! inborn disorder of amino acid and other organic acid metabolism +is_a: MONDO:0019189 {source="MONDO:Entailed", source="Orphanet:289841", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism intersection_of: MONDO:0019189 ! inborn disorder of amino acid and other organic acid metabolism intersection_of: disease_disrupts GO:0006541 ! glutamine metabolic process @@ -326440,8 +331768,10 @@ id: MONDO:0017354 name: infantile glycine encephalopathy def: "Infantile glycine encephalopathy is a mild to severe form of glycine encephalopathy (GE; see this term), characterized by early hypotonia, developmental delay and seizures." [Orphanet:289860] subset: ordo_clinical_subtype {source="Orphanet:289860"} +synonym: "glycine encephalopathy of infancy" EXACT [MONDO:design_pattern] synonym: "infantile NKH" EXACT [Orphanet:289860] synonym: "infantile non-ketotic hyperglycinemia" EXACT [Orphanet:289860] +synonym: "infantile onset glycine encephalopathy" EXACT [MONDO:design_pattern] xref: ICD10:E72.5 {source="Orphanet:289860", source="ORDO:289860/attributed", source="ORDO:289860/ntbt"} xref: Orphanet:289860 {source="MONDO:equivalentTo"} is_a: MONDO:0011612 {source="Orphanet:289860"} ! glycine encephalopathy @@ -326502,7 +331832,7 @@ xref: OMIMPS:250950 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:289902 {source="MONDO:equivalentTo", source="DOID:0060336"} xref: SCTID:237950009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C3696376 {source="NCIT:C98678", source="Orphanet:289902", source="MONDO:equivalentTo"} -is_a: MONDO:0000688 {source="MONDO:Redundant", source="NCIT:C98678", source="Orphanet:289902/inferred", source="linkedlifedata"} ! inherited organic acidemia +is_a: MONDO:0000688 {source="DOID:0060336", source="MONDO:Redundant", source="NCIT:C98678", source="Orphanet:289902/inferred", source="linkedlifedata"} ! inherited organic acidemia is_a: MONDO:0019215 {source="Orphanet:289902"} ! classic organic aciduria [Term] @@ -326769,14 +332099,14 @@ xref: SCTID:54839009 {source="DOID:4953"} xref: UMLS:C0032371 {source="DOID:4953", source="NCIT:C35550", source="ORDO:2912/e", source="Orphanet:2912", source="MONDO:equivalentTo"} is_a: MONDO:0002565 {source="MESH:D011051"} ! myelitis is_a: MONDO:0003182 {source="https://en.wikipedia.org/wiki/Anterior_horn_disease"} ! anterior horn disease -is_a: MONDO:0005108 {source="DOID:4953", source="EFO:0007450", source="MESH:D011051/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:4953", source="EFO:0007450", source="MESH:D011051/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease is_a: MONDO:0019056 {source="MESH:D011051"} ! neuromuscular disease -is_a: MONDO:0020010 {source="MONDO:Redundant", source="NCIT:C35550/inferred", source="Orphanet:2912", source="linkedlifedata"} ! infectious disease of the nervous system +is_a: MONDO:0020010 {source="MONDO:Redundant", source="NCIT:C35550/inferred", source="Orphanet:2912", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease of the nervous system is_a: MONDO:0020129 {source="Orphanet:2912"} ! acquired motor neuron disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C35550/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease -is_a: MONDO:0024318 {source="linkedlife"} ! viral infection of central nervous system -is_a: MONDO:0024618 {source="linkedlife"} ! poliovirus infection -is_a: MONDO:0024619 {source="NCIT:C35550"} ! central nervous system infectious disorder +is_a: MONDO:0021166 {source="MONDO:Entailed", source="NCIT:C35550/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease +is_a: MONDO:0024318 {source="linkedlifedata"} ! viral infection of central nervous system +is_a: MONDO:0024618 {source="linkedlifedata"} ! poliovirus infection +is_a: MONDO:0024619 {source="MESH:D011051/inferred", source="NCIT:C35550", source="linkedlifedata/inferred"} ! central nervous system infectious disorder relationship: disease_has_inflammation_site UBERON:0001017 ! central nervous system relationship: has_modifier PATO:0000389 ! acute relationship: realized_in_response_to_stimulus NCBITaxon:12083 ! Human poliovirus 2 @@ -326795,6 +332125,7 @@ def: "Congenital viral infections with enteroviruses (EV) including coxsackie vi subset: ordo_disease {source="Orphanet:292"} synonym: "antenatal enterovirus infection" EXACT [Orphanet:292] synonym: "congenital enterovirus infection" EXACT [] +synonym: "congenital enterovirus infectious disease" EXACT [MONDO:design_pattern] synonym: "congenital infection caused by enterovirus" EXACT [] synonym: "mother-to-child transmission of enterovirus infection" EXACT [Orphanet:292] xref: ICD10:P35.8 {source="Orphanet:292", source="ORDO:292/ntbt"} @@ -327353,7 +332684,7 @@ xref: SCTID:276701009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0158945 {source="GARD:0001480"} xref: UMLS:C0349499 {source="ORDO:294/e", source="Orphanet:294", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0017409"} ! syndromic disease -is_a: MONDO:0005132 {source="MONDO:cjm", source="linkedlifedata"} ! cytomegalovirus infection +is_a: MONDO:0005132 {source="MONDO:cjm", source="NCIT:C122427", source="linkedlifedata"} ! cytomegalovirus infection is_a: MONDO:0015659 {source="Orphanet:294"} ! infectious disease with epilepsy is_a: MONDO:0016511 {source="Orphanet:294"} ! infectious embryofetopathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1409/cmv-antenatal-infection xsd:anyURI {source="GARD:0001409"} @@ -327508,7 +332839,7 @@ xref: OMIM:615415 {source="Orphanet:294415", source="ORDO:294415/btnt", source=" xref: OMIMPS:208540 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:294415 {source="MONDO:equivalentTo", source="DOID:0060259"} xref: UMLS:C2673883 {source="Orphanet:294415", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000839 {source="DOID:0060259"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:0060259"} ! congenital abnormality is_a: MONDO:0015214 {source="Orphanet:294415"} ! syndromic visceral malformation is_a: MONDO:0019741 {source="Orphanet:294415"} ! familial cystic renal disease @@ -327734,6 +333065,8 @@ id: MONDO:0017437 name: amelia of upper limb def: "A non-syndromic amelia that involves the forelimb." [MONDO:patterns/location] subset: ordo_morphological_anomaly {source="Orphanet:294967"} +synonym: "forelimb non-syndromic amelia" EXACT [MONDO:design_pattern] +synonym: "non-syndromic amelia of forelimb" EXACT [MONDO:design_pattern] xref: HP:0009812 {source="MONDO:otherHierarchy"} xref: ICD10:Q71.0 {source="Orphanet:294967", source="ORDO:294967/e", source="ORDO:294967/specific"} xref: Orphanet:294967 {source="MONDO:equivalentTo"} @@ -327747,6 +333080,8 @@ id: MONDO:0017438 name: amelia of lower limb def: "A non-syndromic amelia that involves the hindlimb." [MONDO:patterns/location] subset: ordo_morphological_anomaly {source="Orphanet:294969"} +synonym: "hindlimb non-syndromic amelia" EXACT [MONDO:design_pattern] +synonym: "non-syndromic amelia of hindlimb" EXACT [MONDO:design_pattern] xref: HP:0009818 {source="MONDO:otherHierarchy"} xref: ICD10:Q72.0 {source="ORDO:294969/e", source="Orphanet:294969", source="ORDO:294969/specific"} xref: Orphanet:294969 {source="MONDO:equivalentTo"} @@ -327901,6 +333236,8 @@ id: MONDO:0017451 name: non-syndromic brachydactyly of fingers def: "A non-syndromic brachydactyly that involves the manus." [MONDO:patterns/location] subset: ordo_morphological_anomaly {source="Orphanet:294996"} +synonym: "manus non-syndromic brachydactyly" EXACT [MONDO:design_pattern] +synonym: "non-syndromic brachydactyly of manus" EXACT [MONDO:design_pattern] synonym: "short fingers" EXACT [Orphanet:294996] xref: ICD10:Q71.8 {source="Orphanet:294996", source="ORDO:294996/ntbt", source="ORDO:294996/attributed"} xref: Orphanet:294996 {source="MONDO:equivalentTo"} @@ -327913,13 +333250,15 @@ id: MONDO:0017452 name: non-syndromic brachydactyly of toes def: "A non-syndromic brachydactyly that involves the pes." [MONDO:patterns/location] subset: ordo_morphological_anomaly {source="Orphanet:294998"} +synonym: "non-syndromic brachydactyly of pes" EXACT [MONDO:design_pattern] +synonym: "pes non-syndromic brachydactyly" EXACT [MONDO:design_pattern] synonym: "short toes" EXACT [Orphanet:294998] xref: ICD10:Q72.8 {source="ORDO:294998/ntbt", source="Orphanet:294998", source="ORDO:294998/attributed"} xref: ICD9:755.66 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:294998 {source="MONDO:equivalentTo"} xref: SCTID:205346006 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0432029 {source="Orphanet:294998", source="ORDO:294998/e"} -is_a: MONDO:0017424 {source="Orphanet:294998"} ! non-syndromic brachydactyly +is_a: MONDO:0017424 {source="Orphanet:294998", source="linkedlifedata"} ! non-syndromic brachydactyly intersection_of: MONDO:0017424 ! non-syndromic brachydactyly intersection_of: disease_has_location UBERON:0002387 ! pes @@ -329213,9 +334552,9 @@ xref: Orphanet:297 {source="MONDO:equivalentTo"} xref: SCTID:16901001 {source="DOID:0050175"} xref: UMLS:C0014054 {source="DOID:0050175"} xref: UMLS:C0014061 {source="Orphanet:297", source="MONDO:equivalentTo", source="ORDO:297/e"} -is_a: MONDO:0006009 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-21", source="Orphanet:297"} ! viral encephalitis +is_a: MONDO:0006009 {source="MONDO:Entailed", source="NCIT:C34579", source="OWLReasoner:Elk-2018-01-21", source="Orphanet:297"} ! viral encephalitis is_a: MONDO:0015659 {source="Orphanet:297"} ! infectious disease with epilepsy -is_a: MONDO:0020067 {source="MESH:D004675/inferred", source="MONDO:Redundant", source="Orphanet:297"} ! infectious encephalitis +is_a: MONDO:0020067 {source="MESH:D004675/inferred", source="MONDO:Redundant", source="NCIT:C34579/inferred", source="Orphanet:297"} ! infectious encephalitis relationship: disease_has_feature HP:0001289 ! Confusion relationship: disease_has_feature HP:0002013 {source="Wikidata"} ! Vomiting relationship: disease_has_feature HP:0002315 {source="Wikidata"} ! Headache @@ -329244,6 +334583,7 @@ name: chronic intestinal pseudoobstruction def: "Chronic intestinal pseudo-obstruction (CIPO) is a rare gastrointestinal motility disorder characterized by recurring episodes resembling mechanical obstruction in the absence of organic, systemic, or metabolic disorders, and without any physical obstruction being detected by X-ray or during surgery. CIPO develops predominantly in children and may be present at birth." [Orphanet:2978] subset: gard_rare {source="GARD:0012744"} subset: ordo_clinical_syndrome {source="Orphanet:2978"} +synonym: "chronic intestinal pseudo-obstruction" EXACT [MONDO:design_pattern] synonym: "cipo" EXACT [Orphanet:2978] synonym: "intestinal pseudo-obstruction, chronic" EXACT [MONDO:patterns/chronic] xref: GARD:0012744 {source="MONDO:equivalentTo"} @@ -329270,7 +334610,7 @@ synonym: "mitochondrial Neurogastrointestingal encephalopathy" EXACT [NCIT:C1196 synonym: "MNGIE" EXACT [GARD:0009920, Orphanet:298] synonym: "MNGIE syndrome" RELATED [GARD:0009920] synonym: "Myoneurogastrointestinal encephalopathy syndrome" RELATED [GARD:0009920] -synonym: "Oculogastrointestinal muscular dystrophy" RELATED [GARD:0009920] +synonym: "oculogastrointestinal muscular dystrophy" RELATED [GARD:0009920] synonym: "OGIMD" RELATED [GARD:0009920] synonym: "POLIP" RELATED [GARD:0009920] synonym: "polyneuropathy, ophthalmoplegia, leukoencephalopathy, and intestinal pseudo-obstruction" RELATED [GARD:0009920] @@ -329430,10 +334770,10 @@ xref: Orphanet:300385 {source="MONDO:equivalentTo"} xref: SCTID:128665000 {source="DOID:4916"} xref: SCTID:254955001 {source="DOID:4916", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.96/0.92/0.20"} xref: UMLS:C0346300 {source="ORDO:300385/e", source="NCIT:C4536", source="DOID:4916", source="MEDGEN:kboom-pr98-c99", source="Orphanet:300385", source="MONDO:equivalentTo"} -is_a: MONDO:0002109 {source="MONDO:Entailed", source="MONDOLEX:0017582", source="NCIT:C4536", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! pituitary cancer +is_a: MONDO:0002109 {source="DOID:4916", source="MONDO:Entailed", source="MONDOLEX:0017582", source="NCIT:C4536", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata", source="linkedlifedata/inferred"} ! pituitary cancer is_a: MONDO:0004970 {source="MONDOLEX:0017582", source="NCIT:C4536"} ! adenocarcinoma -is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C4536/inferred", source="Orphanet:300385", source="linkedlife/inferred"} ! pituitary tumor -is_a: MONDO:0021069 {source="NCIT:C4536"} ! malignant endocrine neoplasm +is_a: MONDO:0017611 {source="MONDO:Redundant", source="NCIT:C4536/inferred", source="Orphanet:300385", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! pituitary tumor +is_a: MONDO:0021069 {source="DOID:4916/inferred", source="NCIT:C4536"} ! malignant endocrine neoplasm intersection_of: MONDO:0004970 ! adenocarcinoma intersection_of: disease_has_location UBERON:0000007 ! pituitary gland @@ -329539,7 +334879,7 @@ xref: ONCOTREE:AMPCA {source="MONDO:equivalentTo"} xref: Orphanet:300557 {source="MONDO:equivalentTo"} xref: SCTID:254609000 {source="MONDO:kboom-pr-0.90/0.74/0.72", source="DOID:4932", source="MONDO:equivalentTo"} xref: UMLS:C0262401 {source="ORDO:300557/e", source="DOID:4932", source="Orphanet:300557", source="MEDGEN:kboom-pr98-c99", source="NCIT:C3908", source="MONDO:equivalentTo"} -is_a: MONDO:0000919 {source="DOID:4932", source="MONDO:Entailed", source="MONDOLEX:0017590", source="NCIT:C3908"} ! ampulla of vater cancer +is_a: MONDO:0000919 {source="DOID:4932", source="MONDO:Entailed", source="MONDOLEX:0017590", source="NCIT:C3908", source="linkedlifedata/inferred"} ! ampulla of vater cancer is_a: MONDO:0006181 {source="MONDO:Redundant", source="NCIT:C3908"} ! digestive system carcinoma is_a: MONDO:0021335 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! carcinoma of duodenum intersection_of: MONDO:0004993 ! carcinoma @@ -329616,6 +334956,7 @@ def: "A diffuse large B-cell lymphoma arising from the central nervous system." subset: ordo_disease {source="Orphanet:300849"} synonym: "central nervous system diffuse large B-cell lymphoma" EXACT [MONDO:patterns/location, NCIT:C71720] synonym: "CNS DLBCL" EXACT [NCIT:C71720] +synonym: "diffuse large B-cell lymphoma of central nervous system" EXACT [MONDO:design_pattern] synonym: "DLBCL of the CNS" EXACT [Orphanet:300849] synonym: "primary diffuse large B-cell lymphoma of the central nervous system" EXACT [NCIT:C71720] synonym: "primary DLBCL of the CNS" EXACT [NCIT:C71720] @@ -329674,7 +335015,7 @@ xref: ONCOTREE:PCALCL {source="MONDO:equivalentTo"} xref: Orphanet:300865 {source="MONDO:equivalentTo"} xref: UMLS:C1301362 {source="Orphanet:300865", source="ORDO:300865/e", source="MONDO:equivalentTo", source="NCIT:C6860"} xref: UMLS:C1698767 {source="Orphanet:300865", source="ORDO:300865/e"} -is_a: MONDO:0000607 {source="NCIT:C6860"} ! primary cutaneous T-cell non-Hodgkin lymphoma +is_a: MONDO:0000607 {source="MESH:D054446", source="NCIT:C6860"} ! primary cutaneous T-cell non-Hodgkin lymphoma is_a: MONDO:0018897 {source="Orphanet:300865"} ! primary cutaneous CD30+ T-cell lymphoproliferative disease is_a: MONDO:0020325 {source="NCIT:C6860"} ! anaplastic large cell lymphoma @@ -329716,7 +335057,7 @@ xref: Orphanet:300878 {source="MONDO:equivalentTo"} xref: SCTID:277568007 {source="DOID:713", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.08"} xref: SCTID:54087003 {source="DOID:713"} xref: UMLS:C0349633 {source="DOID:713", source="Orphanet:300878", source="ORDO:300878/e", source="NCIT:C7401", source="MONDO:equivalentTo"} -is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C7401", source="linkedlifedata"} ! chronic leukemia +is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C7401", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic leukemia is_a: MONDO:0005402 {source="MONDO:Redundant", source="NCIT:C7401"} ! lymphoid leukemia (disease) is_a: MONDO:0017594 {source="MONDO:Redundant", source="Orphanet:300878"} ! indolent B-cell non-Hodgkin lymphoma is_a: MONDO:0018935 {source="DOID:713", source="linkedlifedata"} ! hairy cell leukemia @@ -329773,6 +335114,7 @@ id: MONDO:0017604 name: marginal zone lymphoma def: "A usually indolent mature B-cell lymphoma, arising from the marginal zone of lymphoid tissues. It is characterized by the presence of small to medium sized atypical lymphocytes. It comprises three entities, according to the anatomic sites involved: extranodal marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue, which affects extranodal sites (most often stomach, lung, skin, and ocular adnexa); nodal marginal zone B-cell lymphoma, which affects lymph nodes without evidence of extranodal disease; and splenic marginal zone B-cell lymphoma, which affects the spleen and splenic hilar lymph nodes, bone marrow, and often the peripheral blood." [NCIT:C4341] subset: ordo_group_of_disorders {source="Orphanet:300912"} +synonym: "lymphoma of marginal zone B cell" EXACT [MONDO:design_pattern] synonym: "marginal zone B cell lymphoma" EXACT [MONDO:patterns/location] synonym: "marginal zone B-cell lymphoma" EXACT [MONDO:0006495, NCIT:C4341] synonym: "marginal zone lymphoma" EXACT [DOID:0050748, NCIT:C4341] @@ -329928,10 +335270,10 @@ xref: Orphanet:304055 {source="MONDO:equivalentTo"} xref: SCTID:127024001 {source="MONDO:equivalentTo"} xref: UMLS:C0032019 {source="NCIT:C3330", source="MEDGEN:kboom-pr98-c99", source="Orphanet:304055", source="MONDO:equivalentTo"} is_a: MONDO:0002720 {source="MONDO:Entailed", source="NCIT:C3330"} ! sella turcica neoplasm -is_a: MONDO:0003381 {source="MONDO:Entailed", source="NCIT:C3330", source="linkedlife"} ! pituitary gland disease -is_a: MONDO:0005070 {source="linkedlife", source="linkedlife/inferred"} ! neoplasm (disease) +is_a: MONDO:0003381 {source="MONDO:Entailed", source="NCIT:C3330", source="linkedlifedata"} ! pituitary gland disease +is_a: MONDO:0005070 {source="NCIT:C3330/inferred", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) is_a: MONDO:0006130 {source="MONDO:Redundant", source="NCIT:C3330/inferred", source="OWLReasoner:Elk-2018-01-05"} ! central nervous system neoplasm -is_a: MONDO:0006799 {source="linkedlife"} ! hypothalamic neoplasm +is_a: MONDO:0006799 {source="linkedlifedata"} ! hypothalamic neoplasm is_a: MONDO:0015936 {source="MONDO:Entailed", source="Orphanet:304055"} ! rare tumor of endocrine glands is_a: MONDO:0021211 {source="MONDO:Entailed", source="NCIT:C3330/inferred", source="OWLReasoner:Elk-2018-01-09"} ! brain neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) @@ -329960,7 +335302,7 @@ xref: SCTID:399971009 {source="DOID:3209"} xref: SCTID:76905008 {source="DOID:3209"} xref: SCTID:79855003 {source="DOID:3209", source="MONDO:equivalentTo"} xref: UMLS:C0079301 {source="ORDO:305/e", source="NCIT:C90598", source="Orphanet:305", source="DOID:3209", source="MONDO:equivalentTo"} -is_a: MONDO:0006541 {source="DOID:3209", source="MESH:D016109", source="MONDO:Redundant", source="NCIT:C90598", source="Orphanet:305"} ! epidermolysis bullosa +is_a: MONDO:0006541 {source="DOID:3209", source="MESH:D016109", source="MONDO:Redundant", source="NCIT:C90598", source="Orphanet:305", source="linkedlifedata/inferred"} ! epidermolysis bullosa is_a: MONDO:0015331 {source="Orphanet:305"} ! malformation syndrome with skin/mucosae involvement is_a: MONDO:0019276 {source="MONDOLEX:0017612", source="Orphanet:305"} ! inherited epidermolysis bullosa is_a: MONDO:0020014 {source="Orphanet:305"} ! rare disease with odontological manifestation @@ -330246,7 +335588,7 @@ synonym: "non-infectious iridocyclitis" EXACT [Orphanet:306648] xref: Orphanet:306648 {source="MONDO:equivalentTo"} xref: SCTID:267619000 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0339317 {source="Orphanet:306648", source="MONDO:equivalentTo", source="ORDO:306648/e"} -is_a: MONDO:0006651 {source="MONDOLEX:0017634", source="Orphanet:306648", source="linkedlifedata"} ! anterior uveitis (disease) +is_a: MONDO:0006651 {source="MONDOLEX:0017634", source="Orphanet:306648", source="linkedlifedata", source="linkedlifedata/inferred"} ! anterior uveitis (disease) [Term] id: MONDO:0017635 @@ -330787,7 +336129,7 @@ xref: ICD9:270.8 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:308407 {source="MONDO:equivalentTo"} xref: SCTID:237940008 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0342707 {source="Orphanet:308407", source="ORDO:308407/e", source="MONDO:equivalentTo"} -is_a: MONDO:0019189 {source="Orphanet:308407", source="linkedlife"} ! inborn disorder of amino acid and other organic acid metabolism +is_a: MONDO:0019189 {source="Orphanet:308407", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism [Term] id: MONDO:0017685 @@ -330893,12 +336235,16 @@ is_a: MONDO:0009257 {source="MONDOLEX:0017692", source="Orphanet:308487", source id: MONDO:0017693 name: glycogen storage disease due to glycogen synthase deficiency subset: ordo_group_of_disorders {source="Orphanet:308520"} +synonym: "glycogen storage disease type 0" EXACT [https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_0] synonym: "glycogenosis due to glycogen synthase deficiency" EXACT [Orphanet:308520] synonym: "GSD due to glycogen synthase deficiency" EXACT [Orphanet:308520] +synonym: "GSD0" EXACT [https://en.wikipedia.org/wiki/Glycogen_storage_disease_type_0] xref: ICD10:E74.0 {source="ORDO:308520/ntbt", source="MONDO:subClassOf", source="ORDO:308520/attributed", source="Orphanet:308520"} xref: Orphanet:308520 {source="MONDO:equivalentTo"} xref: UMLS:CN203589 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0002412 {source="Orphanet:308520"} ! glycogen storage disease +intersection_of: MONDO:0002412 ! glycogen storage disease +intersection_of: disease_has_basis_in_disruption_of GO:0061547 ! glycogen synthase activity, transferring glucose-1-phosphate [Term] id: MONDO:0017694 @@ -331319,9 +336665,12 @@ property_value: confidence "4.277777777777779" xsd:double [Term] id: MONDO:0017723 name: Sandhoff disease, adult form +def: "A Sandhoff disease that occurs in an adult." [MONDO:design_pattern] subset: ordo_clinical_subtype {source="Orphanet:309169"} synonym: "adult GM2 gangliosidosis 0 variant" EXACT [Orphanet:309169] +synonym: "adult Sandhoff disease" EXACT [MONDO:design_pattern] synonym: "Hexosaminidases A and B deficiency, adult form" EXACT [Orphanet:309169] +synonym: "Sandhoff disease of adults" EXACT [MONDO:design_pattern] xref: ICD10:E75.0 {source="MONDO:subClassOf", source="ORDO:309169/ntbt", source="ORDO:309169/attributed", source="Orphanet:309169"} xref: OMIM:268800 {source="MONDO:subClassOf", source="ORDO:309169/ntbt", source="Orphanet:309169"} xref: Orphanet:309169 {source="MONDO:equivalentTo"} @@ -331462,7 +336811,7 @@ xref: ICD10:E77.1 {source="ORDO:309294/ntbt", source="Orphanet:309294", source=" xref: MedDRA:10058800 {source="Orphanet:309294", source="ORDO:309294/e"} xref: Orphanet:309294 {source="MONDO:equivalentTo"} xref: SCTID:38795005 {source="MONDO:kboom-pr-0.79/0.56/0.09", source="MONDO:equivalentTo"} -is_a: MONDO:0002561 {source="MONDO:cjm", source="Orphanet:309294/inferred"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="MONDO:cjm", source="Orphanet:309294/inferred", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0019251 {source="Orphanet:309294"} ! oligosaccharidosis [Term] @@ -331478,7 +336827,7 @@ xref: SCTID:18546004 {source="MONDO:kboom-pr-0.66/0.31/0.09", source="MONDO:equi xref: UMLS:C0152417 {source="ORDO:3093/e", source="Orphanet:3093"} is_a: MONDO:0020286 {source="Orphanet:3093"} ! aortic malformation is_a: MONDO:0020293 {source="Orphanet:3093"} ! ascending aorta anomaly -is_a: MONDO:0042981 ! aortic valve stenosis +is_a: MONDO:0042981 {source="linkedlifedata"} ! aortic valve stenosis [Term] id: MONDO:0017736 @@ -331527,6 +336876,7 @@ name: disorder of protein N-glycosylation def: "A disease that has its basis in the disruption of protein N-linked glycosylation." [MONDO:patterns/basis_in_disruption_of_process] subset: ordo_group_of_disorders {source="Orphanet:309347"} synonym: "disorder of protein N-linked glycosylation" RELATED [MONDO:patterns/basis_in_disruption_of_process] +synonym: "protein N-linked glycosylation disease" EXACT [MONDO:design_pattern] xref: ICD10:E77.8 {source="ORDO:309347/attributed", source="ORDO:309347/ntbt", source="Orphanet:309347"} xref: Orphanet:309347 {source="MONDO:equivalentTo"} xref: UMLS:CN227187 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} @@ -331541,6 +336891,7 @@ name: disorder of protein O-glycosylation def: "A disease that has its basis in the disruption of protein O-linked glycosylation." [MONDO:patterns/basis_in_disruption_of_process] subset: ordo_group_of_disorders {source="Orphanet:309447"} synonym: "disorder of protein O-linked glycosylation" RELATED [MONDO:patterns/basis_in_disruption_of_process] +synonym: "protein O-linked glycosylation disease" EXACT [MONDO:design_pattern] xref: ICD10:E77.8 {source="ORDO:309447/attributed", source="ORDO:309447/ntbt", source="Orphanet:309447"} xref: Orphanet:309447 {source="MONDO:equivalentTo"} xref: UMLS:CN227188 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} @@ -331697,7 +337048,7 @@ xref: Orphanet:309813 {source="MONDO:equivalentTo"} xref: SCTID:403832004 {source="MONDO:equivalentTo"} xref: UMLS:C1275125 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} is_a: MONDO:0019052 {source="MONDO:Entailed", source="Orphanet:309813"} ! inborn errors of metabolism -is_a: MONDO:0037821 {source="linkedlife"} ! porphyrin metabolism disease +is_a: MONDO:0037821 {source="linkedlifedata"} ! porphyrin metabolism disease intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0006778 ! porphyrin-containing compound metabolic process @@ -331906,7 +337257,7 @@ xref: Orphanet:310 {source="MONDO:equivalentTo"} xref: SCTID:79745005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="EFO:1001146", source="DOID:2548", source="MONDO:equivalentTo"} xref: UMLS:C0270857 {source="Orphanet:310", source="ORDO:310/e", source="DOID:2548", source="MONDO:equivalentTo", source="NCIT:C85041"} is_a: MONDO:0000416 {source="DOID:2548"} ! variable age at onset electroclinical syndrome -is_a: MONDO:0005027 {source="EFO:1001146", source="MESH:D020195", source="MONDO:Redundant", source="NCIT:C85041", source="linkedlifedata"} ! epilepsy +is_a: MONDO:0005027 {source="DOID:2548/inferred", source="EFO:1001146", source="MESH:D020195", source="MONDO:Redundant", source="NCIT:C85041", source="linkedlifedata"} ! epilepsy is_a: MONDO:0020072 {source="Orphanet:310"} ! childhood-onset epilepsy syndrome is_a: MONDO:0020073 {source="Orphanet:310"} ! adolescent-onset epilepsy syndrome is_a: MONDO:0100036 {source="http://orcid.org/0000-0001-8486-0558"} ! variable age onset epilepsy @@ -331977,7 +337328,7 @@ xref: NCIT:C84774 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equiva xref: Orphanet:31153 {source="MONDO:equivalentTo"} xref: SCTID:190785000 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0473527 {source="Orphanet:31153", source="NCIT:C84774", source="ORDO:31153/e", source="MONDO:equivalentTo"} -is_a: MONDO:0005066 {source="MESH:D052456/inferred", source="MONDO:Redundant", source="NCIT:C84774", source="Orphanet:31153/inferred", source="linkedlifedata"} ! metabolic disease +is_a: MONDO:0005066 {source="MESH:D052456/inferred", source="MONDO:Redundant", source="NCIT:C84774", source="Orphanet:31153/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease is_a: MONDO:0015904 {source="Orphanet:31153"} ! rare hypolipidemia [Term] @@ -332031,7 +337382,7 @@ xref: UMLS:C0025229 {source="ORDO:31202/e", source="NCIT:C128336", source="MONDO xref: UMLS:C0348970 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:C0348971 {source="MEDGEN:kboom-pr92-c94", source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:5052"} ! primary bacterial infectious disease -is_a: MONDO:0005113 {source="MESH:D008554/inferred", source="MONDO:Redundant", source="NCIT:C128336", source="linkedlifedata"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="DOID:5052/inferred", source="MESH:D008554/inferred", source="MONDO:Redundant", source="NCIT:C128336", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0015575 {source="Orphanet:31202"} ! rare bacterial infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:28450 ! Burkholderia pseudomallei @@ -332111,6 +337462,8 @@ id: MONDO:0017779 name: alpha-N-acetylgalactosaminidase deficiency def: "Alpha-N-acetylgalactosaminidase (NAGA) deficiency is a very rare lysosomal storage disease that is clinically and pathologically heterogeneous and is characterized by deficient NAGA activity." [Orphanet:3137] subset: ordo_disease {source="Orphanet:3137"} +synonym: "alpha-N-acetylgalactosaminidase activity disease" EXACT [MONDO:design_pattern] +synonym: "disorder of alpha-N-acetylgalactosaminidase activity" EXACT [MONDO:design_pattern] synonym: "NAGA deficiency" EXACT [Orphanet:3137] synonym: "Schindler disease" EXACT [Orphanet:3137] xref: ICD10:E77.1 {source="ORDO:3137/attributed", source="ORDO:3137/ntbt", source="Orphanet:3137"} @@ -332337,9 +337690,9 @@ xref: Orphanet:314419 {source="MONDO:equivalentTo"} xref: SCTID:285311001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0002448 {source="NCIT:C4313", source="Orphanet:314419", source="ORDO:314419/e", source="MONDO:equivalentTo"} xref: UMLS:C0563212 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005165 {source="DOID:0050894", source="MONDO:Redundant"} ! benign neoplasm +is_a: MONDO:0005165 {source="DOID:0050894", source="DOID:0050894/inferred", source="MONDO:Redundant"} ! benign neoplasm is_a: MONDO:0017797 {source="Orphanet:314419"} ! rare odontologic tumor -is_a: MONDO:0021192 {source="MONDO:Redundant", source="NCIT:C4313"} ! odontogenic neoplasm +is_a: MONDO:0021192 {source="MESH:D000564", source="MONDO:Redundant", source="NCIT:C4313"} ! odontogenic neoplasm relationship: disease_arises_from_structure CL:0000059 ! ameloblast [Term] @@ -332571,7 +337924,9 @@ alt_id: MONDO:0003986 def: "A rare non-Hodgkin lymphoma or even more rarely, a Hodgkin lymphoma that arises from the bone, without lymph node or other extranodal involvement. The femur, spine, and pelvic bones are the most commonly affected sites. The majority of patients present with bone pain in the affected area. A single bone or multiple skeletal sites may be involved. The prognosis is related to the cell type and the stage of the disease." [NCIT:C6620] subset: ordo_disease {source="Orphanet:314684"} synonym: "bone lymphoma" RELATED [DOID:6759] +synonym: "bone tissue lymphoma" EXACT [MONDO:design_pattern] synonym: "lymphoma of bone" EXACT [DOID:6759] +synonym: "lymphoma of bone tissue" EXACT [MONDO:design_pattern] synonym: "lymphoma of the bone" EXACT [DOID:6759] synonym: "primary lymphoma of bone" EXACT [NCIT:C6620] synonym: "primary lymphoma of the bone" EXACT [NCIT:C6620] @@ -332681,7 +338036,7 @@ is_a: MONDO:0003429 {source="MONDOLEX:0017822", source="Orphanet:314759"} ! func [Term] id: MONDO:0017823 -name: Somatomammotropinoma +name: somatomammotropinoma subset: ordo_disease {source="Orphanet:314769"} synonym: "GH and PRL cosecreting pituitary adenoma" EXACT [Orphanet:314769] synonym: "Growth hormone and prolactin cosecreting pituitary adenoma" EXACT [Orphanet:314769] @@ -332703,7 +338058,7 @@ xref: OMIM:600634 {source="Orphanet:314777", source="ORDO:314777/btnt", source=" xref: Orphanet:314777 {source="MONDO:equivalentTo"} xref: SCTID:702375004 {source="MONDO:kboom-pr-0.88/0.76/0.11", source="MONDO:equivalentTo"} xref: UMLS:C1863340 {source="Orphanet:314777"} -is_a: MONDO:0007052 ! growth hormone secreting pituitary adenoma +is_a: MONDO:0007052 ! growth hormone secreting pituitary adenoma 1 property_value: confidence "0.3500000000000001" xsd:double [Term] @@ -332960,7 +338315,7 @@ synonym: "skin of body hypersensitivity reaction type II disease" EXACT [MONDO:p xref: DOID:0060039 {source="MONDO:equivalentTo"} xref: Orphanet:315350 {source="MONDO:equivalentTo"} xref: UMLS:CN203818 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0007179 {source="DOID:0060039", source="MONDO:Entailed"} ! autoimmune disease +is_a: MONDO:0007179 {source="DOID:0060039", source="DOID:0060039/inferred", source="MONDO:Entailed"} ! autoimmune disease is_a: MONDO:0019519 {source="Orphanet:315350"} ! rare skin disease intersection_of: MONDO:0007179 ! autoimmune disease intersection_of: disease_has_location UBERON:0002097 ! skin of body @@ -332998,7 +338353,7 @@ is_a: MONDO:0005308 {source="Wikipedia:Ciliopathy"} ! ciliopathy is_a: MONDO:0006025 {source="DOID:0050576"} ! autosomal recessive disease is_a: MONDO:0015962 {source="Orphanet:3156"} ! inherited renal tubular disease is_a: MONDO:0019744 {source="Orphanet:3156"} ! rare renal tubular disease -is_a: MONDO:0020238 {source="Orphanet:3156"} ! genetic vitreous-retinal disease +is_a: MONDO:0020238 {source="Orphanet:3156"} ! inherited vitreous-retinal disease relationship: disease_has_feature HP:0000090 ! Nephronophthisis [Term] @@ -333070,7 +338425,7 @@ xref: MESH:C564815 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIMPS:108600 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:316226 {source="MONDO:equivalentTo"} xref: UMLS:C1849156 {source="MEDGEN:kboom-pr98-c99", source="Orphanet:316226", source="MONDO:equivalentTo"} -is_a: MONDO:0000557 {source="Orphanet:316226"} ! hereditary ataxia +is_a: MONDO:0000557 {source="DOID:0050952", source="Orphanet:316226"} ! hereditary ataxia [Term] id: MONDO:0017846 @@ -333525,7 +338880,7 @@ xref: Orphanet:319213 {source="MONDO:equivalentTo"} xref: SCTID:716585008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C4274433 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} xref: UMLS:CN203921 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319213", source="linkedlifedata"} ! viral hemorrhagic fever +is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319213", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever intersection_of: MONDO:0018087 ! viral hemorrhagic fever intersection_of: realized_in_response_to_stimulus NCBITaxon:649188 ! Lujo mammarenavirus @@ -333547,7 +338902,7 @@ xref: ICD10:A96.0 {source="ORDO:319223/e", source="Orphanet:319223"} xref: Orphanet:319223 {source="MONDO:equivalentTo"} xref: SCTID:58868000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0019097 {source="MEDGEN:kboom-pr97-c98", source="Orphanet:319223", source="MONDO:equivalentTo"} -is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319223", source="linkedlifedata"} ! viral hemorrhagic fever +is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319223", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever intersection_of: MONDO:0018087 ! viral hemorrhagic fever intersection_of: realized_in_response_to_stimulus NCBITaxon:11619 ! Junin mammarenavirus relationship: disease_has_feature HP:0001873 ! Thrombocytopenia @@ -333568,7 +338923,7 @@ xref: MedDRA:10005932 {source="ORDO:319229/e", source="Orphanet:319229"} xref: Orphanet:319229 {source="MONDO:equivalentTo"} xref: SCTID:67247008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0282192 {source="ORDO:319229/e", source="Orphanet:319229", source="MONDO:equivalentTo"} -is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319229", source="linkedlifedata"} ! viral hemorrhagic fever +is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319229", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever intersection_of: MONDO:0018087 ! viral hemorrhagic fever intersection_of: realized_in_response_to_stimulus NCBITaxon:11628 ! Machupo mammarenavirus relationship: realized_in_response_to_stimulus NCBITaxon:11628 ! Machupo mammarenavirus @@ -333585,7 +338940,7 @@ xref: ICD10:A96.8 {source="ORDO:319234/ntbt", source="Orphanet:319234"} xref: Orphanet:319234 {source="MONDO:equivalentTo"} xref: SCTID:359673001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0042470 {source="ORDO:319234/e", source="Orphanet:319234", source="MONDO:equivalentTo"} -is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319234", source="linkedlifedata"} ! viral hemorrhagic fever +is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319234", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever intersection_of: MONDO:0018087 ! viral hemorrhagic fever intersection_of: realized_in_response_to_stimulus NCBITaxon:45219 ! Guanarito mammarenavirus relationship: disease_has_feature HP:0000132 ! Menorrhagia @@ -333608,7 +338963,7 @@ xref: ICD10:A96.8 {source="ORDO:319239/ntbt", source="Orphanet:319239"} xref: Orphanet:319239 {source="MONDO:equivalentTo"} xref: SCTID:240524001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0343633 {source="ORDO:319239/e", source="Orphanet:319239", source="MONDO:equivalentTo"} -is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319239", source="linkedlifedata"} ! viral hemorrhagic fever +is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319239", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever intersection_of: MONDO:0018087 ! viral hemorrhagic fever intersection_of: realized_in_response_to_stimulus NCBITaxon:45709 ! Sabia mammarenavirus relationship: realized_in_response_to_stimulus NCBITaxon:45709 ! Sabia mammarenavirus @@ -333624,7 +338979,7 @@ xref: Orphanet:319244 {source="MONDO:equivalentTo"} xref: SCTID:716584007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C4274434 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} xref: UMLS:CN203927 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319244", source="linkedlifedata"} ! viral hemorrhagic fever +is_a: MONDO:0018087 {source="MONDO:Redundant", source="Orphanet:319244", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever intersection_of: MONDO:0018087 ! viral hemorrhagic fever intersection_of: realized_in_response_to_stimulus NCBITaxon:499556 ! Chapare mammarenavirus relationship: disease_has_feature HP:0002829 ! Arthralgia @@ -333653,7 +339008,7 @@ xref: Orphanet:319247 {source="MONDO:equivalentTo"} xref: SCTID:120639003 {source="DOID:14472", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0243025 {source="ORDO:319247/e", source="DOID:14472", source="NCIT:C84747", source="GARD:0000069", source="MONDO:equivalentTo", source="Orphanet:319247"} is_a: MONDO:0002254 {source="MONDOLEX:0017879", source="NCIT:C84747"} ! syndromic disease -is_a: MONDO:0005780 {source="NCIT:C84747"} ! Hantavirus infectious disease +is_a: MONDO:0005780 {source="MESH:D018804", source="NCIT:C84747", source="linkedlifedata"} ! Hantavirus infectious disease is_a: MONDO:0018087 {source="Orphanet:319247"} ! viral hemorrhagic fever intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002048 ! lung @@ -334129,7 +339484,9 @@ id: MONDO:0017907 name: primary lymphoma of the conjunctiva def: "Primary lymphoma of the conjunctiva is an extremely rare clonal lymphoid proliferation of the ocular surface, with an indolent course. Clinically it presents with treatment-resistant conjunctivitis, ptosis, excessive tear production or as a painless, salmon-pink, ''fleshy'' patch, with a smooth or multinodular surface, on the bulbar conjunctiva. Histologically it is usually B-cell Non-Hodgkin lymphoma (most often extranodal marginal zone B-cell lymphoma, followed by follicular and diffuse large B-cell lymphoma), with conjunctival T-cell Non-Hodgkin lymphoma being very rare." [Orphanet:319667] subset: ordo_disease {source="Orphanet:319667"} +synonym: "conjunctiva primary organ-specific lymphoma" EXACT [MONDO:design_pattern] synonym: "primary lymphoid conjunctival tumor" EXACT [Orphanet:319667] +synonym: "primary organ-specific lymphoma of conjunctiva" EXACT [MONDO:design_pattern] xref: ICD10:C85.7 {source="Orphanet:319667", source="ORDO:319667/ntbt"} xref: Orphanet:319667 {source="MONDO:equivalentTo"} xref: UMLS:CN203974 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -334163,7 +339520,7 @@ xref: UMLS:C1291643 {source="ORDO:32/e", source="Orphanet:32"} is_a: MONDO:0019052 {source="MESH:C536835/inferred", source="MONDO:Redundant", source="NCIT:C128193", source="Orphanet:32/inferred"} ! inborn errors of metabolism is_a: MONDO:0019241 {source="Orphanet:32"} ! inborn disorder of the gamma-glutamyl cycle is_a: MONDO:0020105 {source="Orphanet:32"} ! hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies -is_a: MONDO:0024626 {source="linkedlife"} ! defective phagocytic cell engulfment +is_a: MONDO:0024626 {source="linkedlifedata"} ! defective phagocytic cell engulfment intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0004363 ! glutathione synthase activity @@ -334285,7 +339642,7 @@ xref: OMIM:258040 {source="Orphanet:322", source="ORDO:322/btnt", source="DOID:0 xref: OMIM:600057 {source="Orphanet:322", source="ORDO:322/e", source="MONDO:superClassOf"} xref: Orphanet:322 {source="DOID:0080173", source="MONDO:equivalentTo"} xref: UMLS:C1838703 {source="Orphanet:322", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000839 {source="DOID:0080173"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:0080173"} ! congenital abnormality is_a: MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:322", source="Orphanet:322/inferred"} ! rare genetic developmental defect during embryogenesis is_a: MONDO:0019356 {source="MONDO:cjm", source="Orphanet:322/inferred"} ! urogenital tract malformation is_a: MONDO:0019719 {source="MONDO:cjm", source="Orphanet:322/inferred"} ! congenital anomaly of kidney and urinary tract @@ -334574,7 +339931,7 @@ xref: NCIT:C128422 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equiv xref: Orphanet:324625 {source="MONDO:equivalentTo"} xref: SCTID:111864006 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0008055 {source="Orphanet:324625", source="MEDGEN:kboom-pr98-c99", source="NCIT:C128422", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="MESH:D065632/inferred", source="MONDO:Redundant", source="NCIT:C128422", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:0050012", source="MESH:D065632/inferred", source="MONDO:Redundant", source="NCIT:C128422", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease is_a: MONDO:0018093 {source="Orphanet:324625"} ! arbovirus fever intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:37124 ! Chikungunya virus @@ -335141,7 +340498,7 @@ xref: SCTID:33313004 {source="DOID:9827", source="MONDO:kboom-pr-1.00/0.85/15.45 xref: UMLS:C0158761 {source="DOID:9827", source="NCBI:mim2gene_medline", source="OMIM:179300", source="Orphanet:3269"} xref: UMLS:C0431795 {source="ORDO:3269/e", source="Orphanet:3269"} xref: UMLS:C2931147 {source="GARD:0004630"} -is_a: MONDO:0000839 {source="DOID:9827"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:9827"} ! congenital abnormality is_a: MONDO:0017429 {source="Orphanet:3269"} ! joint formation defects [Term] @@ -335177,7 +340534,7 @@ xref: SCTID:267695005 {source="DOID:327"} xref: UMLS:C0039144 {source="NCIT:C85179", source="DOID:327", source="Orphanet:3280", source="ORDO:3280/e", source="MONDO:equivalentTo"} xref: UMLS:C0152444 {source="Orphanet:3280"} xref: UMLS:C1861301 {source="Orphanet:3280"} -is_a: MONDO:0002545 {source="DOID:327", source="MESH:D013595", source="linkedlifedata"} ! spinal cord disease +is_a: MONDO:0002545 {source="DOID:327", source="MESH:D013595", source="NCIT:C85179", source="linkedlifedata"} ! spinal cord disease is_a: MONDO:0015141 {source="Orphanet:3280"} ! disorder of medulla oblongata property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7725/syringomyelia xsd:anyURI {source="GARD:0007725"} @@ -335295,11 +340652,11 @@ xref: SCTID:42153001 {source="DOID:2508"} xref: UMLS:C0003490 {source="OMIM:207600", source="DOID:2508"} xref: UMLS:C0035615 {source="NCIT:C34391"} xref: UMLS:C0039263 {source="Orphanet:3287", source="OMIM:207600", source="ORDO:3287/e", source="NCBI:mim2gene_medline", source="DOID:2508", source="NCIT:C35062", source="MONDO:equivalentTo"} -is_a: MONDO:0000473 {source="DOID:2508"} ! arterial disorder -is_a: MONDO:0002254 {source="MONDOLEX:0017991", source="NCIT:C34391"} ! syndromic disease +is_a: MONDO:0000473 {source="DOID:2508", source="NCIT:C34391", source="NCIT:C35062/inferred", source="linkedlifedata/inferred"} ! arterial disorder +is_a: MONDO:0002254 {source="DOID:2508", source="MONDOLEX:0017991", source="NCIT:C34391"} ! syndromic disease is_a: MONDO:0015488 {source="Orphanet:3287"} ! predominantly large-vessel vasculitis is_a: MONDO:0019724 {source="Orphanet:3287"} ! secondary glomerular disease -is_a: MONDO:0043494 {source="NCIT:C35062"} ! arteritis +is_a: MONDO:0043494 {source="EFO:1001857", source="MESH:D013625", source="NCIT:C35062", source="linkedlifedata/inferred"} ! arteritis property_value: confidence "0.0" xsd:double [Term] @@ -335613,7 +340970,7 @@ xref: SCTID:237877004 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:eq xref: UMLS:C0342623 {source="MEDGEN:kboom-pr92-c94", source="MONDO:equivalentTo"} xref: UMLS:CN204235 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0016345 {source="Orphanet:330001"} ! non-familial restrictive cardiomyopathy -is_a: MONDO:0019065 {source="Orphanet:330001", source="linkedlifedata"} ! amyloidosis (disease) +is_a: MONDO:0019065 {source="Orphanet:330001", source="linkedlifedata", source="linkedlifedata/inferred"} ! amyloidosis (disease) [Term] id: MONDO:0018019 @@ -335695,7 +341052,7 @@ xref: SCTID:74912001 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equ xref: UMLS:C3665425 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} xref: UMLS:CN204238 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0015972 {source="Orphanet:330041", source="Orphanet:330041/inferred"} ! rare constitutional anemia -is_a: MONDO:0019050 {source="Orphanet:330041", source="Orphanet:330041/inferred", source="linkedlifedata"} ! inherited hemoglobinopathy +is_a: MONDO:0019050 {source="Orphanet:330041", source="Orphanet:330041/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy [Term] id: MONDO:0018024 @@ -335799,6 +341156,7 @@ name: congenital factor XIII deficiency def: "Congenital factor XIII deficiency is an inherited bleeding disorder due to reduced levels and activity of factor XIII (FXIII) and characterized by hemorrhagic diathesis frequently associated with spontaneous abortions and defective wound healing. Factor XIII deficiency is one of the most rare coagulation factor deficiencies." [Orphanet:331] subset: ordo_disease {source="Orphanet:331"} synonym: "deficiency, Laki-Lorand factor" EXACT [DOID:2211, MTHICD9_2006:286.3] +synonym: "factor XIII deficiency" RELATED [DOID:2211] synonym: "Factor XIII deficiency disease" EXACT [DOID:2211] synonym: "Factor XIII deficiency disease (disorder)" BROAD [DOID:2211, SCTID:18604004] synonym: "fibrin stabilizing factor deficiency" RELATED [GARD:0010766] @@ -336008,7 +341366,7 @@ xref: Orphanet:33208 {source="MONDO:equivalentTo"} xref: SCTID:3731000119107 {source="MONDO:kboom-pr-0.88/0.75/0.10", source="MONDO:equivalentTo"} xref: UMLS:C0033138 {source="NCIT:C116343"} xref: UMLS:C0751757 {source="Orphanet:33208", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005466 {source="NCIT:C116343", source="linkedlifedata"} ! hypersomnia (disease) +is_a: MONDO:0005466 {source="NCIT:C116343", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypersomnia (disease) is_a: MONDO:0019045 {source="Orphanet:33208"} ! rare sleep disorder property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8737/idiopathic-hypersomnia xsd:anyURI {source="GARD:0008737"} @@ -336221,7 +341579,7 @@ xref: OMIMPS:608583 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:334 {source="DOID:0050650", source="MONDO:equivalentTo"} xref: SCTID:715395008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:CN204347 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004981 {source="DOID", source="MONDO:Entailed", source="linkedlifedata"} ! atrial fibrillation (disease) +is_a: MONDO:0004981 {source="DOID", source="DOID:0050650", source="MONDO:Entailed", source="linkedlifedata"} ! atrial fibrillation (disease) is_a: MONDO:0015110 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:334"} ! genetic cardiac rhythm disease intersection_of: MONDO:0004981 ! atrial fibrillation (disease) intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -336247,7 +341605,7 @@ xref: ICD10:C22.0 {source="Orphanet:33402", source="ORDO:33402/ntbt"} xref: NCIT:C7955 {source="MONDO:equivalentTo"} xref: Orphanet:33402 {source="MONDO:equivalentTo"} xref: UMLS:CN204349 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0007256 {source="Orphanet:33402"} ! hepatocellular carcinoma +is_a: MONDO:0007256 {source="NCIT:C7955", source="Orphanet:33402"} ! hepatocellular carcinoma [Term] id: MONDO:0018056 @@ -336309,9 +341667,9 @@ xref: MESH:D008585 {source="MONDO:ontobio", source="DOID:0080176", source="ORDO: xref: Orphanet:33475 {source="MONDO:equivalentTo"} xref: SCTID:192644005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo", source="EFO:1001040"} xref: UMLS:C0025294 {source="ORDO:33475/e", source="Orphanet:33475", source="MONDO:equivalentTo"} -is_a: MONDO:0006670 {source="DOID:0080176", source="MESH:D008585", source="linkedlifedata"} ! bacterial meningitis +is_a: MONDO:0006670 {source="DOID:0080176", source="MESH:D008585", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial meningitis is_a: MONDO:0015659 {source="Orphanet:33475"} ! infectious disease with epilepsy -is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:33475", source="linkedlifedata"} ! infectious disease of the nervous system +is_a: MONDO:0020010 {source="MONDO:Redundant", source="Orphanet:33475", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease of the nervous system [Term] id: MONDO:0018060 @@ -336389,7 +341747,7 @@ xref: SCTID:203120002 {source="DOID:1525"} xref: SCTID:203121003 {source="DOID:1525"} xref: SCTID:33760009 {source="DOID:1525", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.08"} xref: UMLS:C0030328 {source="Orphanet:33577", source="DOID:1525", source="MEDGEN:kboom-pr97-c99", source="ORDO:33577/e", source="MONDO:equivalentTo"} -is_a: MONDO:0006591 {source="DOID:1525", source="EFO:1000742", source="linkedlifedata"} ! panniculitis +is_a: MONDO:0006591 {source="DOID:1525", source="EFO:1000742", source="MESH:D010201", source="linkedlifedata", source="linkedlifedata/inferred"} ! panniculitis is_a: MONDO:0019296 {source="Orphanet:33577"} ! subcutaneous tissue disease [Term] @@ -336569,7 +341927,7 @@ xref: SCTID:51500006 {source="MONDO:kboom-pr-0.88/0.74/0.18", source="DOID:1085" xref: UMLS:C0152096 {source="ORDO:3380/e", source="Orphanet:3380", source="DOID:1085", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} is_a: MONDO:0015216 {source="Orphanet:3380"} ! syndromic diaphragmatic or abdominal wall malformation is_a: MONDO:0015246 {source="Orphanet:3380"} ! syndromic anorectal malformation -is_a: MONDO:0019040 {source="DOID:1085", source="Orphanet:3380/inferred", source="linkedlife/inferred"} ! chromosomal anomaly +is_a: MONDO:0019040 {source="DOID:1085", source="Orphanet:3380/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! chromosomal anomaly is_a: MONDO:0019721 {source="Orphanet:3380"} ! syndromic renal or urinary tract malformation is_a: MONDO:0020051 {source="Orphanet:3380"} ! total autosomal trisomy is_a: MONDO:0020186 {source="Orphanet:3380"} ! eyebrow hypertrophy @@ -336637,10 +341995,10 @@ xref: OMIM:601634 {source="DOID:0080074", source="MONDO:superClassOf"} xref: Orphanet:3388 {source="MONDO:equivalentTo"} xref: SCTID:253098009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0027794 {source="NCIT:C84923"} -is_a: MONDO:0000839 {source="DOID:0080074"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:0080074"} ! congenital abnormality is_a: MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:3388", source="Orphanet:3388/inferred"} ! rare genetic developmental defect during embryogenesis is_a: MONDO:0019117 {source="MONDO:Entailed", source="Orphanet:3388", source="Orphanet:3388/inferred"} ! genetic nervous system disorder -is_a: MONDO:0020022 {source="Orphanet:3388/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! central nervous system malformation +is_a: MONDO:0020022 {source="MESH:D009436", source="Orphanet:3388/inferred", source="https://github.com/monarch-initiative/mondo-build/issues/58"} ! central nervous system malformation relationship: excluded_subClassOf MONDO:0015219 {source="Orphanet:3388"} ! non-syndromic central nervous system malformation [Term] @@ -336717,7 +342075,7 @@ xref: SCTID:19265001 {source="MONDO:kboom-pr-1.00/0.81/11.67", source="MONDO:equ xref: UMLS:C0029835 {source="DOID:2123"} xref: UMLS:C0041351 {source="Orphanet:3392", source="ORDO:3392/e", source="NCIT:C85208", source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:2123"} ! primary bacterial infectious disease -is_a: MONDO:0005113 {source="EFO:1001444", source="MESH:D014406/inferred", source="MONDO:Redundant", source="NCIT:C85208", source="linkedlifedata"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="DOID:2123/inferred", source="EFO:1001444", source="MESH:D014406/inferred", source="MONDO:Redundant", source="NCIT:C85208", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0015575 {source="Orphanet:3392"} ! rare bacterial infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:263 ! Francisella tularensis @@ -336749,9 +342107,9 @@ xref: SCTID:424952003 {source="MONDO:equivalentTo"} xref: UMLS:C0334492 {source="Orphanet:3394"} xref: UMLS:C1261473 {source="Orphanet:3394", source="GARD:0004898"} xref: UMLS:C2211494 {source="NCIT:C9306"} -is_a: MONDO:0005089 {source="EFO:1001968", source="NCIT:C9306"} ! sarcoma +is_a: MONDO:0005089 {source="EFO:1001968", source="NCIT:C9306", source="linkedlifedata"} ! sarcoma is_a: MONDO:0019099 {source="Orphanet:3394"} ! rare soft tissue tumor -is_a: MONDO:0024637 {source="MONDOLEX:0018078", source="NCIT:C9306"} ! malignant soft tissue neoplasm +is_a: MONDO:0024637 {source="MONDOLEX:0018078", source="NCIT:C9306", source="linkedlifedata"} ! malignant soft tissue neoplasm [Term] id: MONDO:0018079 @@ -336908,7 +342266,7 @@ xref: SCTID:240523007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0019104 {source="Orphanet:341", source="NCIT:C36170", source="MONDO:equivalentTo"} xref: UMLS:C0282687 {source="Orphanet:341", source="MONDO:superClassOf"} xref: UMLS:CN204409 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="MESH:D006482/inferred", source="MONDO:Redundant", source="NCIT:C36170", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="MESH:D006482/inferred", source="MONDO:Redundant", source="NCIT:C36170", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease is_a: MONDO:0015576 {source="Orphanet:341"} ! rare viral disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5494/viral-hemorrhagic-fever xsd:anyURI {source="GARD:0005494"} @@ -336936,7 +342294,7 @@ xref: SCTID:12579009 {source="MONDO:kboom-pr-0.88/0.74/0.21", source="DOID:2987" xref: UMLS:C0031069 {source="Orphanet:342", source="ORDO:342/e", source="DOID:2987", source="MONDO:equivalentTo", source="NCIT:C84707"} xref: UMLS:C0585274 {source="Orphanet:342", source="ORDO:342/e"} is_a: MONDO:0017369 {source="Orphanet:342"} ! autoinflammatory syndrome with immune deficiency -is_a: MONDO:0017953 {source="Orphanet:342"} ! hereditary periodic fever syndrome +is_a: MONDO:0017953 {source="MESH:D010505", source="Orphanet:342"} ! hereditary periodic fever syndrome is_a: MONDO:0019724 {source="Orphanet:342"} ! secondary glomerular disease is_a: MONDO:0019751 {source="Orphanet:342/inferred", source="PMID:23827249"} ! autoinflammatory syndrome relationship: excluded_subClassOf MONDO:0007179 {source="DOID:2987"} ! autoimmune disease @@ -336955,6 +342313,7 @@ synonym: "Double outlet right ventricle (disorder)" EXACT [DOID:6406, SCTID:7484 synonym: "Double outlet right ventricle NOS (disorder)" EXACT [DOID:6406, SCTID:204302009] synonym: "Double outlet right ventricle with subpulmonary ventricular septal defect" EXACT [DOID:6406, SCTID:204301002] synonym: "Double outlet right ventricle, unspecified (disorder)" EXACT [DOID:6406, SCTID:204298001] +synonym: "Taussig-Bing syndrome or defect" EXACT [DOID:6406] xref: COHD:313867 {source="MONDO:equivalentTo"} xref: DOID:6406 {source="MONDO:equivalentTo"} xref: GARD:0001908 {source="MONDO:equivalentTo"} @@ -336972,7 +342331,7 @@ xref: UMLS:C0013069 {source="DOID:6406", source="Orphanet:3426", source="OMIM:21 is_a: MONDO:0002070 {source="DOID:6406", source="MONDOLEX:0018089"} ! ventricular septal defect (disease) is_a: MONDO:0016581 {source="Orphanet:3426"} ! conotruncal heart malformations is_a: MONDO:0017131 {source="Orphanet:3426"} ! genetic cardiac anomaly -is_a: MONDO:0024239 {source="NCIT:C98916"} ! congenital anomaly of cardiovascular system +is_a: MONDO:0024239 {source="NCIT:C98916", source="linkedlifedata/inferred"} ! congenital anomaly of cardiovascular system property_value: confidence "0.6726012650301525" xsd:double [Term] @@ -337291,7 +342650,7 @@ xref: SCTID:5587004 {source="DOID:2566", source="MONDO:kboom-pr-1.00/0.86/15.45" xref: SCTID:77797009 {source="DOID:2566"} xref: UMLS:C0010035 {source="DOID:2566", source="Orphanet:34533"} xref: UMLS:C0010036 {source="DOID:2566", source="NCIT:C34513", source="ORDO:34533/e", source="MONDO:equivalentTo", source="Orphanet:34533"} -is_a: MONDO:0000942 {source="DOID:2566", source="MESH:D003317", source="NCIT:C34513/inferred", source="linkedlife", source="linkedlife/inferred"} ! corneal disease +is_a: MONDO:0000942 {source="DOID:2566", source="MESH:D003317", source="NCIT:C34513/inferred", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! corneal disease is_a: MONDO:0015107 {source="Orphanet:34533"} ! rare genetic eye disease [Term] @@ -337350,7 +342709,7 @@ xref: Orphanet:3463 {source="DOID:10632", source="MONDO:equivalentTo"} xref: SCTID:70694009 {source="DOID:10632", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.74/0.37"} xref: UMLS:C0043207 {source="DOID:10632", source="Orphanet:3463", source="ORDO:3463/e", source="NCIT:C35133", source="MONDO:equivalentTo"} xref: UMLS:CN184630 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35133"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:10632", source="MONDO:Redundant", source="NCIT:C35133"} ! syndromic disease is_a: MONDO:0015886 {source="Orphanet:3463"} ! rare diabetes mellitus type 1 is_a: MONDO:0015967 {source="MONDO:Entailed", source="Orphanet:3463"} ! rare genetic diabetes mellitus is_a: MONDO:0015984 {source="MONDO:Entailed"} ! rare genetic immune disease @@ -337371,6 +342730,7 @@ synonym: "xanthic urolithiasis" EXACT [Orphanet:3467] synonym: "xanthine dehydrogenase deficiency" EXACT [DOID:0060236] synonym: "xanthine oxidase deficiency" EXACT [DOID:0060236] synonym: "xanthine stone disease" EXACT [Orphanet:3467] +synonym: "xanthinuria" RELATED [DOID:0060236] xref: DOID:0060236 {source="MONDO:equivalentTo"} xref: HP:0010934 {source="MONDO:otherHierarchy", source="DOID:0060236"} xref: ICD10:E79.8 {source="ORDO:3467/inclusion", source="ORDO:3467/ntbt", source="Orphanet:3467"} @@ -337529,8 +342889,8 @@ xref: SCTID:267498002 {source="DOID:9870"} xref: SCTID:38177000 {source="DOID:9870"} xref: UMLS:C0016952 {source="Orphanet:352", source="NCIT:C84723", source="ORDO:352/e", source="DOID:9870", source="MONDO:equivalentTo"} is_a: MONDO:0017690 {source="Orphanet:352", source="linkedlifedata"} ! disorder of galactose metabolism -is_a: MONDO:0019052 {source="MESH:D005693/inferred", source="MONDO:Redundant", source="NCIT:C84723", source="Orphanet:352/inferred"} ! inborn errors of metabolism -is_a: MONDO:0019214 {source="NCIT:C84723", source="Orphanet:352/inferred"} ! inborn carbohydrate metabolic disorder +is_a: MONDO:0019052 {source="DOID:9870/inferred", source="MESH:D005693/inferred", source="MONDO:Redundant", source="NCIT:C84723", source="Orphanet:352/inferred"} ! inborn errors of metabolism +is_a: MONDO:0019214 {source="DOID:9870", source="MESH:D005693", source="NCIT:C84723", source="Orphanet:352/inferred"} ! inborn carbohydrate metabolic disorder is_a: MONDO:0019743 {source="Orphanet:352"} ! nephropathy secondary to a storage or other metabolic disease is_a: MONDO:0020228 {source="Orphanet:352"} ! cataract associated with a metabolic disease is_a: MONDO:0020280 {source="Orphanet:352"} ! metabolic disease with cataract @@ -337975,7 +343335,7 @@ xref: SCTID:32917001 {source="DOID:3322"} xref: UMLS:C0085131 {source="Orphanet:354", source="DOID:3322", source="ORDO:354/e", source="MONDO:equivalentTo", source="NCIT:C84739"} xref: UMLS:C0268271 {source="Orphanet:354"} xref: UMLS:C2718068 {source="Orphanet:354"} -is_a: MONDO:0002561 {source="MESH:D016537/inferred", source="MONDO:Redundant", source="NCIT:C84739", source="Orphanet:354/inferred", source="PMID:21723623"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="DOID:3322/inferred", source="MESH:D016537/inferred", source="MONDO:Redundant", source="NCIT:C84739", source="Orphanet:354/inferred", source="PMID:21723623"} ! lysosomal storage disease is_a: MONDO:0017719 {source="DOID:3322", source="Orphanet:354"} ! gangliosidosis is_a: MONDO:0019058 {source="Orphanet:354"} ! neurometabolic disease is_a: MONDO:0019706 {source="Orphanet:354"} ! lysosomal storage disease with skeletal involvement @@ -338030,8 +343390,8 @@ xref: SCTID:190794006 {source="DOID:1926", source="MONDO:equivalentTo"} xref: SCTID:2859005 {source="DOID:1926"} xref: SCTID:62201009 {source="DOID:1926"} xref: UMLS:C0017205 {source="Orphanet:355", source="NCIT:C61268", source="ORDO:355/e", source="DOID:1926", source="MONDO:equivalentTo"} -is_a: MONDO:0002561 {source="MESH:D005776/inferred", source="MONDO:Redundant", source="NCIT:C61268", source="Orphanet:355/inferred"} ! lysosomal storage disease -is_a: MONDO:0019255 {source="DOID:1926", source="MESH:D005776", source="MONDOLEX:0018150", source="NCIT:C61268", source="Orphanet:355", source="linkedlife"} ! sphingolipidosis +is_a: MONDO:0002561 {source="DOID:1926/inferred", source="MESH:D005776/inferred", source="MONDO:Redundant", source="NCIT:C61268", source="Orphanet:355/inferred"} ! lysosomal storage disease +is_a: MONDO:0019255 {source="DOID:1926", source="MESH:D005776", source="MONDOLEX:0018150", source="NCIT:C61268", source="Orphanet:355", source="linkedlifedata"} ! sphingolipidosis is_a: MONDO:0020258 {source="Orphanet:355"} ! oculomotor apraxia or related oculomotor disease is_a: MONDO:0020279 {source="Orphanet:355"} ! metabolic disease with corneal opacity @@ -338184,6 +343544,8 @@ xref: ICD10:E88.8 {source="ORDO:35696/ntbt", source="ORDO:35696/attributed", sou xref: Orphanet:35696 {source="MONDO:equivalentTo"} xref: UMLS:CN227273 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0016578 {source="Orphanet:35696"} ! mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies +intersection_of: MONDO:0044970 ! mitochondrial disease +intersection_of: disease_has_basis_in_disruption_of GO:0032543 ! mitochondrial translation [Term] id: MONDO:0018158 @@ -338292,7 +343654,7 @@ xref: ICD10:G54.0 {source="ORDO:357107/ntbt", source="Orphanet:357107"} xref: Orphanet:357107 {source="MONDO:equivalentTo"} xref: SCTID:8051000119105 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1956395 {source="MONDO:equivalentTo", source="Orphanet:357107"} -is_a: MONDO:0005979 {source="MONDOLEX:0018164", source="Orphanet:357107", source="linkedlifedata"} ! thoracic outlet syndrome +is_a: MONDO:0005979 {source="MONDOLEX:0018164", source="Orphanet:357107", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic outlet syndrome [Term] id: MONDO:0018165 @@ -338312,7 +343674,7 @@ xref: ICD10:G54.0 {source="Orphanet:357131", source="ORDO:357131/ntbt"} xref: Orphanet:357131 {source="MONDO:equivalentTo"} xref: SCTID:25981000119102 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1956396 {source="Orphanet:357131", source="MONDO:equivalentTo"} -is_a: MONDO:0005979 {source="MONDOLEX:0018165", source="Orphanet:357131", source="linkedlifedata"} ! thoracic outlet syndrome +is_a: MONDO:0005979 {source="MONDOLEX:0018165", source="Orphanet:357131", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic outlet syndrome [Term] id: MONDO:0018166 @@ -338336,7 +343698,7 @@ xref: Orphanet:357154 {source="MONDO:equivalentTo"} xref: SCTID:32883009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:5773", source="MONDO:equivalentTo"} xref: UMLS:C0029171 {source="DOID:5773", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98", source="NCIT:C34866"} xref: UMLS:C0029172 {source="DOID:5773", source="Orphanet:357154", source="MONDO:equivalentTo"} -is_a: MONDO:0006858 {source="DOID:5773", source="MESH:D009914", source="linkedlifedata"} ! mouth disease +is_a: MONDO:0006858 {source="DOID:5773", source="MESH:D009914", source="NCIT:C34866/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease is_a: MONDO:0019038 {source="Orphanet:357154"} ! rare maxillo-facial surgical disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7264/oral-submucous-fibrosis xsd:anyURI {source="GARD:0007264"} @@ -338416,7 +343778,7 @@ xref: Orphanet:35807 {source="MONDO:equivalentTo"} xref: SCTID:254869000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:2155", source="MONDO:equivalentTo"} xref: UMLS:C0346180 {source="DOID:2155", source="NCIT:C4514", source="MEDGEN:kboom-pr98-c99", source="Orphanet:35807", source="MONDO:equivalentTo"} is_a: MONDO:0006290 {source="MONDO:Entailed", source="MONDOLEX:0018171", source="NCIT:C4514"} ! malignant germ cell tumor -is_a: MONDO:0008170 {source="MONDO:Redundant", source="NCIT:C4514", source="Orphanet:35807/inferred", source="linkedlifedata"} ! ovarian cancer +is_a: MONDO:0008170 {source="DOID:2155/inferred", source="MONDO:Redundant", source="NCIT:C4514", source="Orphanet:35807/inferred", source="linkedlifedata"} ! ovarian cancer is_a: MONDO:0011366 {source="DOID:2155", source="MONDO:Entailed", source="MONDOLEX:0018171", source="NCIT:C4514", source="linkedlifedata"} ! ovarian germ cell tumor is_a: MONDO:0018202 {source="Orphanet:35807"} ! gonadal germ cell tumor is_a: MONDO:0018365 {source="Orphanet:35807"} ! malignant non-epithelial tumor of ovary @@ -338634,6 +343996,7 @@ synonym: "linitis plastica of the stomach" EXACT [Orphanet:36273] xref: ICD10:C16.9 {source="ORDO:36273/ntbt", source="Orphanet:36273"} xref: Orphanet:36273 {source="MONDO:equivalentTo"} xref: SCTID:721629005 {source="MONDO:kboom-pr-0.76/0.38/0.67", source="MONDO:equivalentTo"} +is_a: MONDO:0005017 {source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/42"} ! diffuse gastric adenocarcinoma is_a: MONDO:0018501 {source="Orphanet:36273"} ! rare carcinoma of stomach [Term] @@ -339033,7 +344396,7 @@ xref: OMIMPS:604233 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:36387 {source="DOID:0060170", source="MONDO:equivalentTo"} xref: SCTID:699688008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C3502809 {source="NCIT:C122811", source="Orphanet:36387", source="MONDO:equivalentTo"} -is_a: MONDO:0005579 {source="MONDO:cjm"} ! generalised epilepsy +is_a: MONDO:0005579 {source="DOID:0060170", source="MESH:C565808", source="MONDO:cjm", source="NCIT:C122811", source="linkedlifedata"} ! generalised epilepsy is_a: MONDO:0020071 {source="Orphanet:36387"} ! infantile epilepsy syndrome relationship: disease_has_feature HP:0002069 ! Generalized tonic-clonic seizures relationship: disease_has_feature HP:0002373 ! Febrile seizures @@ -339046,6 +344409,7 @@ def: "A paraneoplastic syndrome that involves the nervous system." [MONDO:patter subset: ordo_group_of_disorders {source="Orphanet:36388"} synonym: "nervous system paraneoplastic syndrome" EXACT [MONDO:patterns/location] synonym: "paraneoplastic cerebellar degeneration" NARROW [Orphanet:36388] +synonym: "paraneoplastic syndrome of nervous system" EXACT [MONDO:design_pattern] synonym: "PCD" EXACT [Orphanet:36388] synonym: "PNS" EXACT [Orphanet:36388] xref: GARD:0007326 {source="shared-umls-xref", source="MONDO:equivalentTo"} @@ -339096,35 +344460,6 @@ is_a: MONDO:0015952 {source="Orphanet:363969"} ! genetic neurodegenerative disea relationship: disease_has_feature HP:0002059 ! Cerebral atrophy relationship: has_modifier HP:0000007 ! Autosomal recessive inheritance -[Term] -id: MONDO:0018220 -name: glycogen storage disease due to glucose-6-phosphatase deficiency -def: "Glycogenosis due to glucose-6-phosphatase (G6P) deficiency or glycogen storage disease, (GSD), type 1, is a group of inherited metabolic diseases, including types a and b (see these terms), and characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver." [Orphanet:364] -subset: ordo_disease {source="Orphanet:364"} -synonym: "G6P deficiency" EXACT [Orphanet:364] -synonym: "glycogen storage disease due to G6P deficiency" EXACT [Orphanet:364] -synonym: "glycogen storage disease type 1" EXACT [Orphanet:364] -synonym: "glycogen storage disease type I" EXACT [Orphanet:364] -synonym: "glycogenosis type 1" EXACT [Orphanet:364] -synonym: "glycogenosis type I" EXACT [Orphanet:364] -synonym: "GSD due to G6P deficiency" EXACT [Orphanet:364] -synonym: "GSD type 1" EXACT [Orphanet:364] -synonym: "GSD type I" EXACT [Orphanet:364] -synonym: "hepatorenal glycogenosis" EXACT [Orphanet:364] -synonym: "Von Gierke disease" EXACT [Orphanet:364] -xref: ICD10:E74.0 {source="ORDO:364/inclusion", source="ORDO:364/ntbt", source="Orphanet:364", source="MONDO:subClassOf"} -xref: MedDRA:10018464 {source="Orphanet:364", source="ORDO:364/e"} -xref: MESH:D005953 {source="MONDO:equivalentTo"} -xref: OMIM:232200 {source="Orphanet:364", source="MONDO:superClassOf", source="ORDO:364/btnt"} -xref: OMIM:232220 {source="Orphanet:364", source="MONDO:superClassOf", source="ORDO:364/btnt"} -xref: OMIM:232240 {source="Orphanet:364", source="MONDO:superClassOf", source="ORDO:364/btnt"} -xref: Orphanet:364 {source="MONDO:equivalentTo"} -xref: UMLS:C0017920 {source="Orphanet:364", source="ORDO:364/e"} -xref: UMLS:C2919796 {source="Orphanet:364", source="MONDO:superClassOf"} -is_a: MONDO:0002412 {source="MESH:D005953", source="Orphanet:364"} ! glycogen storage disease -is_a: MONDO:0015115 {source="Orphanet:364"} ! rare metabolic liver disease -is_a: MONDO:0019743 {source="Orphanet:364"} ! nephropathy secondary to a storage or other metabolic disease - [Term] id: MONDO:0018221 name: immune hydrops fetalis @@ -339360,7 +344695,7 @@ xref: NCIT:C34560 {source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:1934", xref: Orphanet:364559 {source="MONDO:equivalentTo"} xref: SCTID:109420003 {source="DOID:1934", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0013393 {source="NCIT:C34560", source="Orphanet:364559", source="DOID:1934", source="MONDO:equivalentTo"} -is_a: MONDO:0005497 {source="DOID:1934", source="MONDO:Redundant"} ! bone development disease +is_a: MONDO:0005497 {source="DOID:1934", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! bone development disease is_a: MONDO:0015328 {source="MONDO:Entailed", source="Orphanet:364559"} ! rare bone development disorder is_a: MONDO:0019684 {source="MONDO:Redundant", source="Orphanet:364559"} ! rare bone disease intersection_of: MONDO:0005497 ! bone development disease @@ -339393,7 +344728,7 @@ xref: DOID:0060379 {source="MONDO:equivalentTo"} xref: NCIT:C35795 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} xref: Orphanet:364574 {source="MONDO:equivalentTo"} xref: UMLS:C1332140 {source="NCIT:C35795", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0018234 {source="MONDO:Redundant", source="NCIT:C35795", source="Orphanet:364574/inferred"} ! dysostosis +is_a: MONDO:0018234 {source="DOID:0060379", source="MONDO:Redundant", source="NCIT:C35795", source="Orphanet:364574/inferred"} ! dysostosis is_a: MONDO:0018236 {source="Orphanet:364574"} ! dysostosis with limb and face anomalies as a major feature is_a: MONDO:0019066 {source="Orphanet:364574"} ! syndrome with brachydactyly @@ -339560,7 +344895,7 @@ xref: ICD10:E74.0 {source="ORDO:370/ntbt", source="Orphanet:370", source="ORDO:3 xref: Orphanet:370 {source="MONDO:equivalentTo"} xref: SCTID:40191005 {source="MONDO:kboom-pr-0.73/0.44/0.09", source="MONDO:equivalentTo"} xref: UMLS:C0268147 {source="ORDO:370/e", source="Orphanet:370"} -is_a: MONDO:0002412 {source="Orphanet:370", source="linkedlifedata"} ! glycogen storage disease +is_a: MONDO:0002412 {source="Orphanet:370", source="linkedlifedata", source="linkedlifedata/inferred"} ! glycogen storage disease [Term] id: MONDO:0018252 @@ -339839,6 +345174,8 @@ id: MONDO:0018274 name: GM3 synthase deficiency def: "GM3 synthase deficiency is characterized by recurrent seizures (epilepsy) and problems with brain development. Within the first few weeks after birth, affected infants become irritable and develop feeding difficulties and vomiting that prevent them from growing and gaining weight at the usual rate. Seizures begin within the first year of life and worsen over time. Multiple types of seizures are possible, including generalized tonic-clonic seizures (also known as grand mal seizures), which cause muscle rigidity, convulsions, and loss of consciousness. Some affected children also experience prolonged episodes of seizure activity called nonconvulsive status epilepticus. The seizures associated with GM3 synthase deficiency tend to be resistant (refractory) to treatment with antiseizure medications." [https://ghr.nlm.nih.gov/condition/gm3-synthase-deficiency] subset: ordo_group_of_disorders {source="Orphanet:370933"} +synonym: "disorder of lactosylceramide alpha-2,3-sialyltransferase activity" EXACT [MONDO:design_pattern] +synonym: "lactosylceramide alpha-2,3-sialyltransferase activity disease" EXACT [MONDO:design_pattern] synonym: "ST3GAL5-CDG" EXACT [Orphanet:370933] xref: ICD10:E77.8 {source="ORDO:370933/attributed", source="Orphanet:370933", source="ORDO:370933/ntbt"} xref: Orphanet:370933 {source="MONDO:equivalentTo"} @@ -340230,7 +345567,7 @@ xref: UMLS:C3160917 {source="Orphanet:37202"} xref: UMLS:CN204884 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0003900 {source="DOID:1678", source="linkedlifedata"} ! connective tissue disease is_a: MONDO:0006030 {source="DOID:1678", source="EFO:1000869", source="MONDOLEX:0018301", source="NCIT:C27189", source="linkedlifedata"} ! chronic cystitis -is_a: MONDO:0006032 {source="DOID:13949", source="EFO:1000869/inferred", source="MESH:D018856", source="MONDO:Redundant", source="NCIT:C27189/inferred", source="linkedlife", source="linkedlifedata"} ! cystitis +is_a: MONDO:0006032 {source="DOID:13949", source="DOID:1678/inferred", source="EFO:1000869/inferred", source="MESH:D018856", source="MONDO:Redundant", source="NCIT:C27189/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! cystitis is_a: MONDO:0015106 {source="Orphanet:37202"} ! rare urogenital disease [Term] @@ -340320,8 +345657,8 @@ is_a: MONDO:0017259 {source="Orphanet:379"} ! systemic diseases with anterior uv is_a: MONDO:0017260 {source="Orphanet:379"} ! systemic diseases with posterior uveitis is_a: MONDO:0017261 {source="Orphanet:379"} ! systemic diseases with panuveitis is_a: MONDO:0019305 {source="Orphanet:379"} ! immune deficiency with skin involvement -is_a: MONDO:0021166 {source="linkedlife"} ! inflammatory disease -is_a: MONDO:0024626 {source="linkedlife"} ! defective phagocytic cell engulfment +is_a: MONDO:0021166 {source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0024626 {source="linkedlifedata"} ! defective phagocytic cell engulfment relationship: disease_disrupts GO:0002376 ! immune system process relationship: disease_disrupts GO:0006909 {source="Wikipedia:Chronic_granulomatous_disease"} ! phagocytosis relationship: disease_has_basis_in_disruption_of GO:0016175 ! superoxide-generating NADPH oxidase activity @@ -340472,6 +345809,7 @@ synonym: "Langerhans cell histiocytosis" EXACT [MONDO:0006263, NCIT:C3107, OMIM: synonym: "Langerhans-cell histiocytosis" RELATED [DOID:2571] synonym: "LCH" EXACT [NCIT:C3107] synonym: "Lch" RELATED [OMIM:604856] +synonym: "Letterer-Siwe disease" EXACT [DOID:2571] synonym: "letterer-Siwe disease involving intra-abdominal lymph nodes" EXACT [DOID:2571] synonym: "letterer-Siwe disease involving intrapelvic lymph nodes" EXACT [DOID:2571] synonym: "letterer-Siwe disease involving intrathoracic lymph nodes" EXACT [DOID:2571] @@ -340569,7 +345907,7 @@ xref: ICD9:709.09 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:39 {source="MONDO:equivalentTo"} xref: SCTID:239089006 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0406779 {source="ORDO:39/e", source="Orphanet:39"} -is_a: MONDO:0019289 {source="Orphanet:39", source="linkedlifedata"} ! hyperpigmentation of the skin +is_a: MONDO:0019289 {source="Orphanet:39", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpigmentation of the skin property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4500/acromelanosis xsd:anyURI {source="GARD:0004500"} [Term] @@ -340611,7 +345949,7 @@ xref: UMLS:C0019655 {source="NCIT:C77201", source="DOID:1731", source="ORDO:390/ xref: UMLS:C0035288 {source="DOID:1731", source="MONDO:relatedTo"} xref: UMLS:C0153261 {source="ORDO:390/e", source="Orphanet:390"} is_a: MONDO:0000308 {source="DOID:1731"} ! primary systemic mycosis -is_a: MONDO:0002041 {source="ICD10:B39", source="MESH:D006660", source="MONDO:Redundant", source="NCIT:C77201", source="linkedlifedata"} ! fungal infectious disease +is_a: MONDO:0002041 {source="DOID:1731/inferred", source="ICD10:B39", source="MESH:D006660", source="MONDO:Redundant", source="NCIT:C77201", source="linkedlifedata", source="linkedlifedata/inferred"} ! fungal infectious disease is_a: MONDO:0015578 {source="Orphanet:390"} ! rare mycosis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:5036 ! Histoplasma @@ -340771,6 +346109,8 @@ subset: ordo_clinical_subtype {source="Orphanet:391497"} synonym: "childhood myasthenia gravis" EXACT [Orphanet:391497] synonym: "juvenile acquired myasthenia" EXACT [Orphanet:391497] synonym: "juvenile autoimmune myasthenia gravis" EXACT [Orphanet:391497] +synonym: "myasthenia gravis of childhood" EXACT [MONDO:design_pattern] +synonym: "pediatric myasthenia gravis" EXACT [MONDO:design_pattern] xref: ICD10:G70.0 {source="ORDO:391497/ntbt", source="Orphanet:391497", source="MONDO:subClassOf"} xref: Orphanet:391497 {source="MONDO:equivalentTo"} is_a: MONDO:0009688 {source="Orphanet:391497"} ! myasthenia gravis @@ -340815,9 +346155,9 @@ xref: SCTID:189193002 {source="DOID:2431"} xref: SCTID:393567008 {source="DOID:2431"} xref: SCTID:403969002 {source="DOID:2431", source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0017653 {source="NCIT:C3060", source="DOID:2431", source="Orphanet:391651", source="MONDO:equivalentTo"} -is_a: MONDO:0002604 {source="MONDO:Redundant", source="NCIT:C3060"} ! pericytic neoplasm -is_a: MONDO:0002789 {source="DOID:2431"} ! hemangiopericytic tumor +is_a: MONDO:0002604 {source="DOID:2431/inferred", source="MONDO:Redundant", source="NCIT:C3060"} ! pericytic neoplasm is_a: MONDO:0019099 {source="Orphanet:391651"} ! rare soft tissue tumor +relationship: excluded_subClassOf MONDO:0002789 {source="DOID:2431"} ! hemangiopericytic tumor [Term] id: MONDO:0018328 @@ -341160,8 +346500,8 @@ xref: Orphanet:398058 {source="MONDO:equivalentTo"} xref: SCTID:403468003 {source="DOID:5518", source="MONDO:equivalentTo"} xref: UMLS:C0238348 {source="NCIT:C7729", source="Orphanet:398058", source="MEDGEN:kboom-pr98-c99", source="DOID:5518", source="MONDO:equivalentTo"} xref: UMLS:C1336081 {source="DOID:5518"} -is_a: MONDO:0001325 {source="MONDO:0018352/inferred", source="MONDO:Redundant", source="MONDOLEX:0018352/inferred", source="NCIT:C7729/inferred", source="Orphanet:398058"} ! penile cancer -is_a: MONDO:0005096 {source="DOID:5518", source="MONDO:Entailed", source="MONDOLEX:0018352", source="NCIT:C7729"} ! squamous cell carcinoma +is_a: MONDO:0001325 {source="DOID:5518/inferred", source="MONDO:0018352/inferred", source="MONDO:Redundant", source="MONDOLEX:0018352/inferred", source="NCIT:C7729/inferred", source="Orphanet:398058", source="linkedlifedata/inferred"} ! penile cancer +is_a: MONDO:0005096 {source="DOID:5518", source="MONDO:Entailed", source="MONDOLEX:0018352", source="NCIT:C7729", source="linkedlifedata/inferred"} ! squamous cell carcinoma is_a: MONDO:0006360 {source="DOID:5518", source="MONDO:Entailed", source="MONDOLEX:0018352", source="NCIT:C7729"} ! penile carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0000989 ! penis @@ -341333,8 +346673,8 @@ xref: Orphanet:398934 {source="MONDO:equivalentTo"} xref: SCTID:254849005 {source="MONDO:kboom-pr-0.96/0.92/0.39", source="MONDO:equivalentTo"} xref: UMLS:C0677886 {source="Orphanet:398934"} xref: UMLS:C1518236 {source="NCIT:C40026", source="DOID:2151"} -is_a: MONDO:0002229 {source="MONDOLEX:0018364", source="NCIT:C40026", source="linkedlifedata"} ! ovarian epithelial tumor -is_a: MONDO:0008170 {source="MESH:C538090", source="MONDOLEX:0018364", source="NCIT:C40026", source="Orphanet:398934", source="linkedlife"} ! ovarian cancer +is_a: MONDO:0002229 {source="DOID:2151", source="MONDOLEX:0018364", source="NCIT:C40026", source="linkedlifedata"} ! ovarian epithelial tumor +is_a: MONDO:0008170 {source="DOID:2151/inferred", source="MESH:C538090", source="MONDOLEX:0018364", source="NCIT:C40026", source="Orphanet:398934", source="linkedlifedata"} ! ovarian cancer intersection_of: MONDO:0002229 ! ovarian epithelial tumor intersection_of: has_modifier PATO:0002097 ! neoplastic, malignant disjoint_from: MONDO:0018365 ! malignant non-epithelial tumor of ovary @@ -341410,7 +346750,7 @@ xref: UMLS:C0346182 {source="DOID:6331", source="MEDGEN:kboom-pr98-c99", source= xref: UMLS:CN205036 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} is_a: MONDO:0003514 {source="DOID:6331", source="MONDO:Entailed", source="MONDOLEX:0018369"} ! malignant teratoma is_a: MONDO:0003821 {source="NCIT:C8111"} ! ovarian biphasic or triphasic teratoma -is_a: MONDO:0018171 {source="DOID:6331"} ! malignant germ cell tumor of ovary +is_a: MONDO:0018171 {source="DOID:6331", source="NCIT:C8111"} ! malignant germ cell tumor of ovary intersection_of: MONDO:0003514 ! malignant teratoma intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -341455,7 +346795,7 @@ xref: NCIT:C34841 {source="MONDO:kboom-pr-0.94/0.68/2.17", source="MONDO:equival xref: Orphanet:399164 {source="MONDO:equivalentTo"} xref: SCTID:397758007 {source="MONDO:equivalentTo"} xref: UMLS:C0027543 {source="NCIT:C34841"} -is_a: MONDO:0005380 {source="NCIT:C34841", source="Orphanet:399164", source="linkedlife"} ! osteonecrosis +is_a: MONDO:0005380 {source="NCIT:C34841", source="Orphanet:399164", source="linkedlifedata"} ! osteonecrosis [Term] id: MONDO:0018374 @@ -341510,7 +346850,7 @@ xref: NCIT:C63924 {source="MONDO:kboom-pr-0.77/0.38/0.76", source="MONDO:equival xref: Orphanet:399293 {source="MONDO:equivalentTo"} xref: SCTID:441809006 {source="MONDO:kboom-pr-0.77/0.38/0.76", source="MONDO:equivalentTo"} xref: UMLS:C2711248 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C63924", source="Orphanet:399293"} -is_a: MONDO:0005380 {source="MONDO:Redundant", source="NCIT:C63924", source="Orphanet:399293/inferred"} ! osteonecrosis +is_a: MONDO:0005380 {source="MONDO:Redundant", source="NCIT:C63924", source="Orphanet:399293/inferred", source="linkedlifedata/inferred"} ! osteonecrosis is_a: MONDO:0018374 {source="Orphanet:399293"} ! secondary avascular necrosis [Term] @@ -341563,7 +346903,7 @@ xref: SCTID:268125000 {source="DOID:8125"} xref: SCTID:65477003 {source="DOID:8125"} xref: UMLS:C0029429 {source="DOID:8125", source="Orphanet:399319", source="NCIT:C34879", source="MONDO:equivalentTo"} xref: UMLS:C0158445 {source="DOID:8125"} -is_a: MONDO:0005380 {source="Orphanet:399319"} ! osteonecrosis +is_a: MONDO:0005380 {source="DOID:8125", source="Orphanet:399319"} ! osteonecrosis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12704/osteochondrosis xsd:anyURI {source="GARD:0012704"} [Term] @@ -341884,8 +347224,10 @@ name: cystic echinococcosis subset: gard_rare subset: ordo_disease {source="Orphanet:400"} synonym: "echinococcus granulosus" EXACT [DOID:1495] +synonym: "Echinococcus granulosus infection" EXACT [DOID:1495] synonym: "Echinococcus granulosus infection of lung" EXACT [DOID:1495] synonym: "Echinococcus granulosus infection of thyroid" EXACT [DOID:1495] +synonym: "echinococcus granulosus infectious disease" EXACT [DOID:1495] synonym: "Echinococcus granulosus infectious disease of liver" EXACT [DOID:1495] synonym: "echinococcus granulosus infectious disease of liver" EXACT [DOID:1495] synonym: "echinococcus granulosus infectious disease of thyroid" EXACT [DOID:1495] @@ -341925,7 +347267,7 @@ xref: UMLS:C0152068 {source="DOID:1495", source="MONDO:subClassOf"} xref: UMLS:C0153290 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} xref: UMLS:C0153291 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} xref: UMLS:C4303092 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005738 {source="DOID:1495", source="linkedlife"} ! echinococcosis +is_a: MONDO:0005738 {source="DOID:1495", source="linkedlifedata"} ! echinococcosis is_a: MONDO:0015577 {source="MONDO:Entailed", source="Orphanet:400"} ! rare parasitic disease is_a: MONDO:0044346 {source="https://en.wikipedia.org/wiki/Echinococcosis#Cystic"} ! echinococcus granulosus infectious disease relationship: disease_has_feature HP:0001025 ! Urticaria @@ -342199,7 +347541,7 @@ xref: ICD9:701.8 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:402007 {source="MONDO:equivalentTo"} xref: SCTID:111197009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.83/0.56/0.63"} xref: UMLS:C0263390 {source="Orphanet:402007", source="MONDO:superClassOf"} -is_a: MONDO:0002523 {source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/", source="linkedlifedata"} ! cutaneous mucinosis +is_a: MONDO:0002523 {source="https://www.dermnetnz.org/topics/lichen-myxoedematosus/", source="linkedlifedata", source="linkedlifedata/inferred"} ! cutaneous mucinosis is_a: MONDO:0019295 {source="Orphanet:402007"} ! other dermis disorder [Term] @@ -342484,7 +347826,7 @@ xref: UMLS:C0013403 {source="Orphanet:404560"} xref: UMLS:C0205747 {source="Orphanet:404560"} xref: UMLS:C1838547 {source="Orphanet:404560"} xref: UMLS:C2314896 {source="Orphanet:404560", source="MONDO:relatedTo"} -is_a: MONDO:0015356 {source="Orphanet:404560"} ! hereditary neoplastic syndrome +is_a: MONDO:0015356 {source="NCIT:C27264", source="Orphanet:404560"} ! hereditary neoplastic syndrome is_a: MONDO:0015950 {source="Orphanet:404560"} ! inherited skin tumor is_a: MONDO:0019300 {source="Orphanet:404560"} ! rare skin tumor or hamartoma @@ -342663,7 +348005,7 @@ xref: ICD9:279.49 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:411593 {source="MONDO:equivalentTo"} xref: SCTID:408539000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0854359 {source="DOID:0040100", source="Orphanet:411593", source="MONDO:equivalentTo"} -is_a: MONDO:0000569 {source="DOID:0040100", source="linkedlife"} ! autoimmune disease of endocrine system +is_a: MONDO:0000569 {source="DOID:0040100", source="linkedlifedata"} ! autoimmune disease of endocrine system is_a: MONDO:0018619 {source="Orphanet:411593"} ! hyperinsulinemic hypoglycaemia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10808/insulin-autoimmune-syndrome xsd:anyURI {source="GARD:0010808"} @@ -342766,7 +348108,7 @@ xref: SCTID:204942005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0158699 {source="NCIT:C99041"} xref: UMLS:C0542519 {source="Orphanet:411709"} xref: UMLS:C1609433 {source="OMIM:191830", source="Orphanet:411709"} -is_a: MONDO:0005240 {source="DOID:14766", source="MONDO:Redundant", source="linkedlifedata"} ! kidney disease +is_a: MONDO:0005240 {source="DOID:14766", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! kidney disease is_a: MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:411709", source="Orphanet:411709/inferred"} ! rare genetic developmental defect during embryogenesis is_a: MONDO:0019720 {source="Orphanet:411709"} ! non-syndromic renal or urinary tract malformation is_a: MONDO:0020030 {source="MONDO:Entailed", source="Orphanet:411709", source="Orphanet:411709/inferred"} ! rare genetic renal disease @@ -342930,11 +348272,11 @@ xref: SCTID:237751000 {source="MONDO:kboom-pr-0.89/0.76/0.27", source="MONDO:equ xref: SCTID:267395000 {source="DOID:0050811"} xref: UMLS:C0001627 {source="NCIT:C34360", source="Orphanet:418", source="ORDO:418/e", source="MONDO:equivalentTo"} xref: UMLS:C0701163 {source="MEDGEN:kboom-pr87-c94", source="DOID:0050811", source="MONDO:equivalentTo"} -is_a: MONDO:0005523 {source="DOID:0050811"} ! steroid inherited metabolic disorder +is_a: MONDO:0005523 {source="DOID:0050811", source="MESH:D000312"} ! steroid inherited metabolic disorder is_a: MONDO:0015123 {source="MONDO:Entailed"} ! rare inherited dyslipidemia is_a: MONDO:0015129 {source="Orphanet:418", source="Orphanet:418/inferred"} ! chronic primary adrenal insufficiency is_a: MONDO:0015514 {source="Orphanet:418"} ! genetic endocrine growth disease -is_a: MONDO:0015898 {source="MESH:D000312", source="Orphanet:418"} ! adrenogenital syndrome +is_a: MONDO:0015898 {source="MESH:D000312", source="Orphanet:418", source="linkedlifedata"} ! adrenogenital syndrome is_a: MONDO:0019590 {source="Orphanet:418"} ! rare endocrine growth disease [Term] @@ -343207,7 +348549,7 @@ xref: Orphanet:423479 {source="MONDO:equivalentTo"} xref: UMLS:CN237501 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015920 {source="Orphanet:423479"} ! syndromic neurometabolic disease with X-linked intellectual disability is_a: MONDO:0019058 {source="Orphanet:423479"} ! neurometabolic disease -is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:423479"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="MONDO:Redundant", source="Orphanet:423479"} ! inherited retinal dystrophy is_a: MONDO:0019236 {source="Orphanet:423479"} ! inborn disorder of purine metabolism [Term] @@ -343420,18 +348762,20 @@ name: small intestine neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the small intestine. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C5803] subset: ordo_group_of_disorders {source="Orphanet:423975"} synonym: "NET of the small intestine" EXACT [Orphanet:423975] +synonym: "neuroendocrine neoplasm of small intestine" EXACT [MONDO:design_pattern] synonym: "neuroendocrine neoplasm of the small intestine" EXACT [Orphanet:423975] synonym: "neuroendocrine tumor of small bowel" EXACT [Orphanet:423975] synonym: "neuroendocrine tumor of the small intestine" RELATED [Orphanet:423975] synonym: "small intestinal neuroendocrine neoplasm" EXACT [NCIT:C5803] synonym: "small intestine neuroendocrine neoplasm" EXACT [MONDO:patterns/location, NCIT:C5803] +synonym: "small Intestine neuroendocrine tumor" EXACT [DOID:4434] xref: DOID:4434 {source="MONDO:equivalentTo"} xref: NCIT:C5803 {source="DOID:4434", source="MONDO:equivalentTo"} xref: Orphanet:423975 {source="MONDO:equivalentTo"} xref: UMLS:C1336005 {source="NCIT:C5803", source="DOID:4434", source="MONDO:equivalentTo"} xref: UMLS:CN237515 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0002883 {source="MONDO:Entailed", source="NCIT:C5803"} ! intestinal neuroendocrine neoplasm -is_a: MONDO:0004251 {source="MONDO:Redundant", source="NCIT:C5803"} ! small intestine neoplasm +is_a: MONDO:0002883 {source="DOID:4434", source="MONDO:Entailed", source="NCIT:C5803"} ! intestinal neuroendocrine neoplasm +is_a: MONDO:0004251 {source="DOID:4434", source="MONDO:Redundant", source="NCIT:C5803"} ! small intestine neoplasm is_a: MONDO:0018539 {source="Orphanet:423975"} ! rare epithelial tumor of small intestine intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0002108 ! small intestine @@ -343950,7 +349294,7 @@ xref: OMIMPS:601198 {source="MONDO:cjm", source="DOID:0090109", source="MONDO:eq xref: Orphanet:428 {source="DOID:0090109", source="MONDO:equivalentTo"} xref: SCTID:711152006 {source="MONDO:kboom-pr-0.85/0.67/0.22", source="MONDO:equivalentTo"} xref: UMLS:C0342345 {source="GARD:0002877"} -is_a: MONDO:0005557 {source="DOID:0090109", source="Orphanet:428/inferred", source="linkedlifedata"} ! calcium metabolic disease +is_a: MONDO:0005557 {source="DOID:0090109", source="Orphanet:428/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! calcium metabolic disease is_a: MONDO:0016390 {source="Orphanet:428"} ! familial isolated hypoparathyroidism is_a: MONDO:0019052 {source="OWLReasoner:2017"} ! inborn errors of metabolism property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2877/hypocalcemia-autosomal-dominant xsd:anyURI {source="GARD:0002877"} @@ -343960,6 +349304,7 @@ id: MONDO:0018544 name: X-linked adrenoleukodystrophy def: "X-linked adrenoleukodystrophy (X-ALD) is a peroxisomal disorder resulting in cerebral demyelination, axonal dysfunction in the spinal cord leading to spastic paraplegia, adrenal insufficiency and in some cases testicular insufficiency." [Orphanet:43] subset: ordo_disease {source="Orphanet:43"} +synonym: "adrenoleukodystrophy" RELATED [DOID:10588] synonym: "adrenoleukodystrophy, X-linked" EXACT [MONDO:patterns/x_linked] synonym: "ALD" EXACT [CSP2005:4001-0003, DOID:10588, Orphanet:43] synonym: "bronze Schilder disease" EXACT [DOID:10588] @@ -344003,11 +349348,11 @@ is_a: MONDO:0015129 {source="Orphanet:43", source="Orphanet:43/inferred"} ! chro is_a: MONDO:0015906 {source="Orphanet:43"} ! rare disorder with hypergonadotropic hypogonadism is_a: MONDO:0015971 {source="MONDO:Entailed", source="Orphanet:43", source="Orphanet:43/inferred"} ! rare genetic adrenal disease is_a: MONDO:0016398 {source="Orphanet:43"} ! peroxisomal disease with epilepsy -is_a: MONDO:0019046 {source="DOID:10588", source="NCIT:C61252/inferred", source="Orphanet:43"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:10588", source="NCIT:C61252", source="NCIT:C61252/inferred", source="Orphanet:43"} ! leukodystrophy is_a: MONDO:0019058 {source="Orphanet:43"} ! neurometabolic disease is_a: MONDO:0019233 {source="Orphanet:43"} ! peroxisomal beta-oxidation disorder is_a: MONDO:0020142 {source="Orphanet:43"} ! metabolic disease with dementia -is_a: MONDO:0024237 {source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder +is_a: MONDO:0024237 {source="MESH:D000326/inferred", source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder disjoint_from: MONDO:0018598 {source="https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/24"} ! neonatal adrenoleukodystrophy [Term] @@ -344176,8 +349521,8 @@ xref: Orphanet:432 {source="DOID:0090070", source="MONDO:equivalentTo"} xref: Orphanet:478 {source="DOID:0090070", source="MONDO:superClassOf"} xref: SCTID:33927004 {source="MONDO:kboom-pr-0.97/0.83/2.33", source="MONDO:equivalentTo"} xref: UMLS:C0271623 {source="NCIT:C113347"} -is_a: MONDO:0002146 {source="MONDO:Entailed", source="NCIT:C113347", source="OWLReasoner:2017", source="linkedlifedata"} ! hypogonadism -is_a: MONDO:0002259 {source="DOID:7455", source="MONDO:Redundant"} ! gonadal disease +is_a: MONDO:0002146 {source="DOID:0090070", source="MONDO:Entailed", source="NCIT:C113347", source="OWLReasoner:2017", source="linkedlifedata"} ! hypogonadism +is_a: MONDO:0002259 {source="DOID:0090070/inferred", source="DOID:7455", source="MONDO:Redundant", source="NCIT:C113347/inferred"} ! gonadal disease intersection_of: MONDO:0002146 ! hypogonadism intersection_of: disease_has_basis_in_disruption_of GO:0005183 ! gonadotropin hormone-releasing hormone activity @@ -344209,7 +349554,7 @@ xref: SCTID:56989000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equ xref: UMLS:C0022972 {source="Orphanet:43393", source="NCIT:C3155", source="ORDO:43393/e", source="MONDO:equivalentTo", source="DOID:0050214"} is_a: MONDO:0018215 {source="MONDO:Entailed", source="Orphanet:43393"} ! paraneoplastic neurologic syndrome is_a: MONDO:0018743 {source="Orphanet:43393"} ! immune-mediated acquired neuromuscular junction disease -is_a: MONDO:0021073 {source="MONDO:Redundant", source="NCIT:C3155"} ! paraneoplastic syndrome +is_a: MONDO:0021073 {source="MESH:D015624/inferred", source="MONDO:Redundant", source="NCIT:C3155"} ! paraneoplastic syndrome property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6851/lambert-eaton-myasthenic-syndrome xsd:anyURI {source="GARD:0006851"} [Term] @@ -344363,6 +349708,7 @@ id: MONDO:0018570 name: hypophosphatasia def: "Hypophosphatasia (HPP) is a rare heritable metabolic disorder characterized by defective mineralization of bone and/or teeth in the presence of reduced activity of unfractionated serum alkaline phosphatase (ALP). The clinical spectrum is extremely wide, from stillbirth at one end to fractures of the lower extremities in adulthood, at the other, or even no bone manifestations (odontohypophosphatasia)." [Orphanet:436] subset: ordo_disease {source="Orphanet:436"} +synonym: "childhood hypophosphatasia" EXACT [DOID:14213] synonym: "childhood hypophosphatasia (disorder)" EXACT [DOID:14213, SCTID:30174008] synonym: "deficiency of alkaline phosphatase" EXACT [DOID:14213] synonym: "deficiency of alkaline phosphatase (disorder)" EXACT [DOID:14213, SCTID:360792001] @@ -344394,7 +349740,7 @@ xref: SCTID:70848009 {source="DOID:14213"} xref: UMLS:C0020630 {source="NCIT:C26798", source="DOID:14213", source="Orphanet:436", source="MONDO:equivalentTo", source="ORDO:436/e"} xref: UMLS:C0220743 {source="DOID:14213", source="MONDO:superClassOf"} is_a: MONDO:0000426 {source="DOID:14213"} ! autosomal dominant disease -is_a: MONDO:0005066 {source="MESH:D007014/inferred", source="MONDO:Redundant", source="NCIT:C26798", source="linkedlifedata"} ! metabolic disease +is_a: MONDO:0005066 {source="MESH:D007014/inferred", source="MONDO:Redundant", source="NCIT:C26798", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease is_a: MONDO:0015327 {source="MONDO:Entailed", source="Orphanet:436"} ! developmental anomaly of metabolic origin is_a: MONDO:0019052 {source="MESH:D007014/inferred", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05"} ! inborn errors of metabolism is_a: MONDO:0019705 {source="Orphanet:436"} ! primary bone dysplasia with defective bone mineralization @@ -344631,7 +349977,7 @@ xref: Orphanet:439254 {source="MONDO:equivalentTo"} xref: SCTID:45639009 {source="MONDO:kboom-pr-0.73/0.42/0.21", source="MONDO:equivalentTo"} is_a: MONDO:0015952 {source="MONDO:Redundant", source="Orphanet:439254", source="Orphanet:439254/inferred"} ! genetic neurodegenerative disease is_a: MONDO:0018634 {source="MONDO:Entailed", source="Orphanet:439254"} ! hereditary amyloidosis -is_a: MONDO:0019065 {source="MONDO:Redundant", source="Orphanet:439254", source="linkedlifedata"} ! amyloidosis (disease) +is_a: MONDO:0019065 {source="MONDO:Redundant", source="Orphanet:439254", source="linkedlifedata", source="linkedlifedata/inferred"} ! amyloidosis (disease) is_a: MONDO:0020136 {source="MONDO:Redundant", source="Orphanet:439254"} ! neurodegenerative disease with dementia is_a: MONDO:0021037 {source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:439254"} ! genetic neurodegenerative disease with dementia @@ -344652,7 +349998,7 @@ xref: SCTID:239926000 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:eq xref: UMLS:C0343190 {source="GARD:0007415", source="MONDO:equivalentTo", source="NCIT:C117295"} xref: UMLS:CN242143 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0018593 {source="Orphanet:439729"} ! primary polyarteritis nodosa -is_a: MONDO:0019170 {source="NCIT:C117295", source="Orphanet:439729/inferred"} ! polyarteritis nodosa +is_a: MONDO:0019170 {source="NCIT:C117295", source="Orphanet:439729/inferred", source="linkedlifedata"} ! polyarteritis nodosa property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7415/cutaneous-polyarteritis-nodosa xsd:anyURI {source="GARD:0007415"} [Term] @@ -344748,7 +350094,7 @@ xref: UMLS:C0282525 {source="Orphanet:44", source="NCIT:C99251", source="MONDO:e is_a: MONDO:0015129 {source="Orphanet:44", source="Orphanet:44/inferred"} ! chronic primary adrenal insufficiency is_a: MONDO:0015971 {source="MONDO:Entailed", source="Orphanet:44", source="Orphanet:44/inferred"} ! rare genetic adrenal disease is_a: MONDO:0016398 {source="Orphanet:44"} ! peroxisomal disease with epilepsy -is_a: MONDO:0019234 {source="Orphanet:44"} ! peroxisome biogenesis disorder +is_a: MONDO:0019234 {source="NCIT:C99251", source="Orphanet:44"} ! peroxisome biogenesis disorder is_a: MONDO:0020281 {source="Orphanet:44"} ! metabolic disease with pigmentary retinitis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/559/neonatal-adrenoleukodystrophy xsd:anyURI {source="GARD:0000559"} @@ -344934,9 +350280,9 @@ xref: ICD10:E00.2 {source="Orphanet:442", source="ORDO:442/btnt", source="ORDO:4 xref: ICD10:E00.9 {source="Orphanet:442", source="ORDO:442/btnt", source="ORDO:442/specific"} xref: ICD10:E03.0 {source="Orphanet:442", source="ORDO:442/btnt", source="ORDO:442/specific"} xref: ICD10:E03.1 {source="Orphanet:442", source="DOID:0050328", source="ORDO:442/btnt", source="ORDO:442/specific"} -xref: ICD9:243 {source="DOID:0050328", source="linkedlife"} -xref: ICD9:269.3 {source="linkedlife"} -xref: ICD9:759.89 {source="linkedlife"} +xref: ICD9:243 {source="DOID:0050328", source="linkedlifedata"} +xref: ICD9:269.3 {source="linkedlifedata"} +xref: ICD9:759.89 {source="linkedlifedata"} xref: MedDRA:10010510 {source="Orphanet:442", source="ORDO:442/e"} xref: MESH:D003409 {source="Orphanet:442", source="DOID:0050328", source="ORDO:442/e", source="MONDO:equivalentTo"} xref: NCIT:C26734 {source="MONDO:kboom-pr-1.00/0.86/15.87", source="DOID:0050328", source="MONDO:equivalentTo"} @@ -344964,7 +350310,7 @@ xref: SCTID:3614006 {source="DOID:0050328"} xref: SCTID:75065003 {source="DOID:0050328"} xref: UMLS:C0010308 {source="Orphanet:442", source="DOID:0050328", source="ORDO:442/e", source="MONDO:equivalentTo", source="NCIT:C26734"} xref: UMLS:C0342200 {source="DOID:0050328"} -is_a: MONDO:0005420 {source="MESH:D003409", source="MONDO:Redundant", source="NCIT:C26734", source="Orphanet:442/inferred", source="linkedlife"} ! hypothyroidism +is_a: MONDO:0005420 {source="DOID:0050328", source="MESH:D003409", source="MONDO:Redundant", source="NCIT:C26734", source="Orphanet:442/inferred", source="linkedlifedata"} ! hypothyroidism is_a: MONDO:0015893 {source="MONDO:Entailed", source="Orphanet:442"} ! rare hypothyroidism is_a: MONDO:0019590 {source="Orphanet:442"} ! rare endocrine growth disease @@ -345042,7 +350388,7 @@ xref: NCIT:C115124 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equiv xref: Orphanet:443079 {source="MONDO:equivalentTo"} xref: SCTID:312956001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0730328 {source="Orphanet:443079", source="NCIT:C115124", source="MONDO:equivalentTo"} -is_a: MONDO:0005283 {source="MESH:D056833", source="MONDOLEX:0018616", source="NCIT:C115124", source="linkedlifedata"} ! retinal disease +is_a: MONDO:0005283 {source="MESH:D056833", source="MONDOLEX:0018616", source="NCIT:C115124", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinal disease is_a: MONDO:0015120 {source="Orphanet:443079"} ! rare acquired eye disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/200/central-serous-chorioretinopathy xsd:anyURI {source="GARD:0000200"} @@ -345116,7 +350462,7 @@ xref: SCTID:18260003 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equ xref: UMLS:C0520678 {source="Orphanet:443173"} is_a: MONDO:0005485 {source="MONDOLEX:0018623", source="linkedlifedata"} ! psychotic disorder is_a: MONDO:0015582 {source="Orphanet:443173"} ! rare disorder related with pregnancy, childbirth and puerperium -is_a: MONDO:0044013 ! puerperal disorder +is_a: MONDO:0044013 {source="linkedlifedata/inferred"} ! puerperal disorder [Term] id: MONDO:0018624 @@ -345193,7 +350539,7 @@ xref: UMLS:C0343375 {source="MEDGEN:kboom-pr87-c94", source="DOID:3055", source= xref: UMLS:C0343376 {source="MEDGEN:kboom-pr87-c94", source="DOID:3055", source="MONDO:equivalentTo"} xref: UMLS:C0343377 {source="MEDGEN:kboom-pr92-c94", source="DOID:3055", source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:3055"} ! primary bacterial infectious disease -is_a: MONDO:0005113 {source="EFO:0007420", source="MESH:D010284/inferred", source="MONDO:Redundant", source="NCIT:C34897", source="linkedlifedata"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="DOID:3055/inferred", source="EFO:0007420", source="MESH:D010284/inferred", source="MONDO:Redundant", source="NCIT:C34897", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0019331 {source="Orphanet:443227"} ! rare form of salmonellosis relationship: disease_has_feature HP:0001433 ! Hepatosplenomegaly relationship: disease_has_feature HP:0001662 ! Bradycardia @@ -345205,7 +350551,8 @@ subset: ordo_group_of_disorders {source="Orphanet:443287"} xref: Orphanet:443287 {source="MONDO:equivalentTo"} xref: UMLS:CN237670 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0020529 {source="MONDOLEX:0018627", source="Orphanet:443287"} ! ACTH-independent Cushing syndrome -relationship: disease_arises_from_feature MONDO:0021227 ! adrenal gland neoplasm +intersection_of: MONDO:0020529 ! ACTH-independent Cushing syndrome +intersection_of: disease_arises_from_feature MONDO:0006174 ! cortisol-producing adrenal cortex adenoma [Term] id: MONDO:0018628 @@ -345317,7 +350664,7 @@ xref: Orphanet:444116 {source="MONDO:equivalentTo"} xref: UMLS:C0206246 {source="Orphanet:444116", source="MONDO:equivalentTo"} is_a: MONDO:0017133 {source="MONDO:Entailed", source="Orphanet:444116"} ! genetic systemic or rheumatologic disease is_a: MONDO:0019052 {source="MESH:D028226", source="MONDO:Entailed", source="OWLReasoner:2017"} ! inborn errors of metabolism -is_a: MONDO:0019065 {source="MESH:D028226", source="MONDO:Entailed", source="OWLReasoner:2017"} ! amyloidosis (disease) +is_a: MONDO:0019065 {source="MESH:D028226", source="MONDO:Entailed", source="NCIT:C84555", source="OWLReasoner:2017"} ! amyloidosis (disease) intersection_of: MONDO:0019065 ! amyloidosis (disease) intersection_of: has_modifier MONDO:0021152 ! genetic and inherited property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6611/hereditary-amyloidosis xsd:anyURI {source="GARD:0006611"} @@ -345438,6 +350785,8 @@ id: MONDO:0018642 name: NIK deficiency def: "A immunodeficiency disorder caused by loss of function mutation in NIK (MAP3K14)." [doi:10.1038/ncomms6360] subset: ordo_disease {source="Orphanet:447731"} +synonym: "MAP3K14 non-severe combined immunodeficiency" EXACT [MONDO:design_pattern] +synonym: "non-severe combined immunodeficiency caused by mutation in MAP3K14" EXACT [MONDO:design_pattern] synonym: "primary immunodeficiency with multifaceted aberrant lymphoid immunity" EXACT [Orphanet:447731] xref: ICD10:D81.8 {source="ORDO:447731/ntbt", source="ORDO:447731/attributed", source="Orphanet:447731"} xref: Orphanet:447731 {source="MONDO:equivalentTo"} @@ -345476,7 +350825,7 @@ xref: Orphanet:447764 {source="MONDO:equivalentTo"} xref: SCTID:722870008 {source="MONDO:equivalentTo"} xref: UMLS:C4302109 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0017287 {source="Orphanet:447764"} ! IgG4-related disease -is_a: MONDO:0018646 {source="MONDOLEX:0018645", source="Orphanet:447764"} ! sclerosing cholangitis (disease) +is_a: MONDO:0018646 {source="MONDOLEX:0018645", source="Orphanet:447764", source="linkedlifedata/inferred"} ! sclerosing cholangitis (disease) [Term] id: MONDO:0018646 @@ -345541,7 +350890,7 @@ xref: SCTID:413924001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0234398 {source="NCIT:C35275", source="MONDO:directSiblingOf"} is_a: MONDO:0015120 {source="Orphanet:447788"} ! rare acquired eye disease is_a: MONDO:0019110 {source="Orphanet:447788"} ! rare central nervous system and retinal vascular disease -is_a: MONDO:0021084 {source="MONDO:Redundant", source="NCIT:C35275", source="linkedlife/inferred"} ! vision disorder +is_a: MONDO:0021084 {source="MONDO:Redundant", source="NCIT:C35275", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! vision disorder [Term] id: MONDO:0018650 @@ -345685,7 +351034,7 @@ xref: Orphanet:448237 {source="MONDO:equivalentTo"} xref: SCTID:3928002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0276289 {source="NCIT:C128423", source="MEDGEN:kboom-pr94-c94", source="GARD:0012894", source="MONDO:equivalentTo"} xref: UMLS:CN237724 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="MESH:D000071243/inferred", source="MONDO:Redundant", source="NCIT:C128423", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:0060478", source="MESH:D000071243/inferred", source="MONDO:Redundant", source="NCIT:C128423", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease is_a: MONDO:0015576 {source="Orphanet:448237"} ! rare viral disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:64320 ! Zika virus @@ -345733,7 +351082,7 @@ xref: Orphanet:448270 {source="MONDO:equivalentTo"} xref: SCTID:78250005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0013580 {source="NCIT:C111643", source="Orphanet:448270"} is_a: MONDO:0019512 {source="Orphanet:448270"} ! congenital heart malformation -is_a: MONDO:0024239 {source="NCIT:C111643"} ! congenital anomaly of cardiovascular system +is_a: MONDO:0024239 {source="NCIT:C111643", source="linkedlifedata/inferred"} ! congenital anomaly of cardiovascular system [Term] id: MONDO:0018665 @@ -345849,7 +351198,7 @@ xref: Orphanet:449285 {source="MONDO:equivalentTo"} xref: SCTID:61288004 {source="MONDO:equivalentTo"} xref: UMLS:CN237735 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015224 {source="Orphanet:449285"} ! rare intoxication -is_a: MONDO:0029000 {source="linkedlife"} ! poisoning +is_a: MONDO:0029000 {source="linkedlifedata", source="linkedlifedata/inferred"} ! poisoning [Term] id: MONDO:0018670 @@ -345971,7 +351320,7 @@ xref: OMIM:617205 {source="Orphanet:450", source="MONDO:superClassOf"} xref: OMIMPS:306955 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:450 {source="DOID:0050545", source="MONDO:equivalentTo"} xref: UMLS:C3178805 {source="Orphanet:450", source="ORDO:450/e", source="MONDO:equivalentTo", source="NCIT:C117273"} -is_a: MONDO:0000839 {source="DOID:0050545"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:0050545"} ! congenital abnormality is_a: MONDO:0002254 {source="MONDOLEX:0018677", source="NCIT:C117273"} ! syndromic disease is_a: MONDO:0020284 {source="Orphanet:450"} ! heart position anomaly @@ -346165,7 +351514,7 @@ xref: SCTID:39193004 {source="DOID:9513"} xref: SCTID:95210003 {source="EFO:0006475", source="DOID:9513", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0023484 {source="NCIT:C3180", source="DOID:9513", source="Orphanet:454714", source="MONDO:equivalentTo"} is_a: MONDO:0001018 {source="DOID:9513", source="MONDO:Redundant"} ! lymphoblastic leukemia -is_a: MONDO:0004959 {source="EFO:0006475", source="MESH:D007952/inferred", source="NCIT:C3180", source="Orphanet:454714", source="linkedlifedata"} ! plasma cell neoplasm +is_a: MONDO:0004959 {source="EFO:0006475", source="MESH:D007952/inferred", source="NCIT:C3180", source="Orphanet:454714", source="linkedlifedata", source="linkedlifedata/inferred"} ! plasma cell neoplasm is_a: MONDO:0005402 {source="NCIT:C3180"} ! lymphoid leukemia (disease) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9373/plasma-cell-leukemia xsd:anyURI {source="GARD:0009373"} @@ -346878,7 +352227,7 @@ xref: SCTID:34250006 {source="DOID:11656", source="MONDO:relatedTo"} xref: SCTID:76092003 {source="DOID:11656", source="MONDO:kboom-pr-0.91/0.77/0.68", source="MONDO:equivalentTo"} xref: UMLS:C0030804 {source="DOID:11656", source="Orphanet:46486", source="NCIT:C34907"} xref: UMLS:C0157721 {source="DOID:11656"} -is_a: MONDO:0019337 {source="DOID:11656", source="EFO:1000680", source="EFO:1000680/inferred", source="Orphanet:46486", source="linkedlifedata"} ! autoimmune bullous skin disease +is_a: MONDO:0019337 {source="DOID:11656", source="EFO:1000680", source="EFO:1000680/inferred", source="Orphanet:46486", source="linkedlifedata", source="linkedlifedata/inferred"} ! autoimmune bullous skin disease property_value: confidence "5.6923076923076925" xsd:double [Term] @@ -346906,7 +352255,7 @@ xref: Orphanet:46487 {source="GARD:0006360", source="MONDO:equivalentTo"} xref: SCTID:200911009 {source="DOID:4313"} xref: SCTID:2772003 {source="DOID:4313", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0079293 {source="Orphanet:46487", source="DOID:4313", source="GARD:0006360", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C84690"} -is_a: MONDO:0006541 {source="DOID:4313", source="EFO:1000691", source="MONDO:Entailed", source="NCIT:C84690"} ! epidermolysis bullosa +is_a: MONDO:0006541 {source="DOID:4313", source="EFO:1000691", source="MESH:D016107", source="MONDO:Entailed", source="NCIT:C84690"} ! epidermolysis bullosa is_a: MONDO:0019337 {source="Orphanet:46487"} ! autoimmune bullous skin disease intersection_of: MONDO:0006541 ! epidermolysis bullosa intersection_of: has_modifier MONDO:0021141 ! acquired @@ -347008,7 +352357,7 @@ xref: Orphanet:466677 {source="MONDO:equivalentTo"} xref: SCTID:217670007 {source="MONDO:equivalentTo"} xref: UMLS:CN242103 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015224 {source="Orphanet:466677"} ! rare intoxication -is_a: MONDO:0029000 {source="linkedlife"} ! poisoning +is_a: MONDO:0029000 {source="linkedlifedata", source="linkedlifedata/inferred"} ! poisoning [Term] id: MONDO:0018756 @@ -347179,8 +352528,8 @@ xref: SCTID:360427001 {source="DOID:2112"} xref: SCTID:371423007 {source="DOID:2112", source="MONDO:kboom-pr-0.89/0.77/0.05", source="MONDO:equivalentTo"} xref: SCTID:73034009 {source="DOID:2112"} xref: UMLS:C0311386 {source="Orphanet:472", source="DOID:2112", source="ORDO:472/e", source="MONDO:equivalentTo", source="NCIT:C4076"} -is_a: MONDO:0005135 {source="EFO:0007232", source="MESH:D021865/inferred", source="MONDO:Redundant", source="NCIT:C4076", source="linkedlife/inferred"} ! parasitic infection -is_a: MONDO:0005707 {source="DOID:2112", source="MESH:D021865", source="linkedlifedata"} ! coccidiosis +is_a: MONDO:0005135 {source="DOID:2112/inferred", source="EFO:0007232", source="MESH:D021865/inferred", source="MONDO:Redundant", source="NCIT:C4076", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection +is_a: MONDO:0005707 {source="DOID:2112", source="MESH:D021865", source="linkedlifedata", source="linkedlifedata/inferred"} ! coccidiosis is_a: MONDO:0015577 {source="Orphanet:472"} ! rare parasitic disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:482538 ! Cystoisospora belli @@ -347232,7 +352581,9 @@ name: congenital anomaly of ventricular septum def: "A congenital heart malformation that involves the interventricular septum." [MONDO:patterns/location] subset: ordo_group_of_disorders {source="Orphanet:474347"} synonym: "congenital anomaly of interventricular communication" EXACT [Orphanet:474347] +synonym: "congenital heart malformation of interventricular septum" EXACT [MONDO:design_pattern] synonym: "congenital ventricular septal anomaly" EXACT [Orphanet:474347] +synonym: "interventricular septum congenital heart malformation" EXACT [MONDO:design_pattern] synonym: "rare congenital anomaly of ventricular septum" RELATED [Orphanet:474347] xref: Orphanet:474347 {source="MONDO:equivalentTo"} is_a: MONDO:0019512 {source="Orphanet:474347"} ! congenital heart malformation @@ -347603,7 +352954,7 @@ xref: SCTID:33927004 {source="MONDO:subClassOf", source="DOID:3614"} xref: SCTID:93559003 {source="DOID:3614", source="MONDO:kboom-pr-0.94/0.75/1.75", source="MONDO:equivalentTo"} xref: UMLS:C0162809 {source="NCIT:C75479", source="DOID:3614", source="ORDO:478/e", source="MONDO:equivalentTo", source="Orphanet:478"} is_a: MONDO:0002254 {source="MONDOLEX:0018800", source="NCIT:C75479"} ! syndromic disease -is_a: MONDO:0018555 {source="MONDOLEX:0018800", source="NCIT:C75479", source="linkedlifedata"} ! hypogonadotropic hypogonadism +is_a: MONDO:0018555 {source="DOID:3614", source="MONDOLEX:0018800", source="NCIT:C75479", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypogonadotropic hypogonadism relationship: disease_has_feature HP:0000789 {source="Wikidata"} ! Infertility relationship: disease_has_feature HP:0000939 {source="Wikidata"} ! Osteoporosis property_value: confidence "1.018928274356262" xsd:double @@ -347678,7 +353029,7 @@ xref: SCTID:397868007 {source="DOID:899", source="MONDO:relatedTo"} xref: SCTID:398197009 {source="DOID:899", source="MONDO:kboom-pr-0.92/0.77/0.82", source="MONDO:equivalentTo"} xref: SCTID:440471007 {source="DOID:899"} xref: UMLS:C0008340 {source="DOID:899"} -is_a: MONDO:0002887 {source="DOID:899", source="MESH:D015529", source="linkedlifedata"} ! bile duct disease +is_a: MONDO:0002887 {source="DOID:899", source="MESH:D015529", source="linkedlifedata", source="linkedlifedata/inferred"} ! bile duct disease is_a: MONDO:0015116 {source="Orphanet:480501"} ! rare biliary tract disease [Term] @@ -348097,7 +353448,7 @@ xref: SCTID:204036008 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:005 xref: SCTID:23024003 {source="DOID:0050453"} xref: UMLS:C0266463 {source="ORDO:48471/e", source="Orphanet:48471", source="DOID:0050453", source="NCIT:C103921", source="MONDO:equivalentTo"} xref: UMLS:C0266483 {source="DOID:0050453"} -is_a: MONDO:0002320 {source="DOID:0050453"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="DOID:0050453"} ! congenital nervous system disorder is_a: MONDO:0015220 {source="Orphanet:48471"} ! syndrome with a central nervous system malformation as major feature is_a: MONDO:0015655 {source="Orphanet:48471"} ! cerebral malformation with epilepsy is_a: MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:48471", source="Orphanet:48471/inferred"} ! rare genetic developmental defect during embryogenesis @@ -348143,7 +353494,7 @@ xref: OMIMPS:607765 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: Orphanet:485631 {source="MONDO:equivalentTo"} xref: UMLS:CN239183 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0005523 {source="DOID:0050674"} ! steroid inherited metabolic disorder -is_a: MONDO:0015581 {source="Orphanet:485631"} ! bile acid synthesis defect with cholestasis and malabsorption +is_a: MONDO:0015581 {source="EFO:0009039", source="Orphanet:485631"} ! bile acid synthesis defect with cholestasis and malabsorption [Term] id: MONDO:0018842 @@ -348190,7 +353541,7 @@ xref: NCIT:C7010 {source="DOID:7232", source="MONDO:equivalentTo"} xref: ONCOTREE:BEC {source="MONDO:equivalentTo"} xref: Orphanet:48736 {source="MONDO:equivalentTo"} xref: UMLS:C1333377 {source="NCIT:C7010", source="DOID:7232", source="MONDO:equivalentTo"} -is_a: MONDO:0002714 {source="MONDO:Entailed", source="NCIT:C7010/inferred", source="OWLReasoner:Elk-2018-01-05"} ! central nervous system cancer +is_a: MONDO:0002714 {source="DOID:7232/inferred", source="MONDO:Entailed", source="NCIT:C7010/inferred", source="OWLReasoner:Elk-2018-01-05"} ! central nervous system cancer is_a: MONDO:0003000 {source="DOID:7232", source="MONDO:Entailed", source="NCIT:C7010/inferred"} ! central nervous system germ cell tumor is_a: MONDO:0005440 {source="DOID:7232", source="MONDO:Entailed", source="NCIT:C7010/inferred", source="Orphanet:48736"} ! embryonal carcinoma is_a: MONDO:0016738 {source="Orphanet:48736"} ! primary germ cell tumor of central nervous system @@ -348317,7 +353668,7 @@ xref: SCTID:367461002 {source="DOID:4154"} xref: SCTID:45742009 {source="DOID:4154"} xref: UMLS:C0011436 {source="Orphanet:49042", source="NCIT:C84667", source="DOID:4154", source="ORDO:49042/e", source="MONDO:equivalentTo"} xref: UMLS:C2973527 {source="Orphanet:49042"} -is_a: MONDO:0006999 {source="DOID:4154", source="MESH:D003811/inferred", source="linkedlifedata"} ! tooth disease +is_a: MONDO:0006999 {source="DOID:4154", source="MESH:D003811/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! tooth disease is_a: MONDO:0015668 {source="Orphanet:49042"} ! hereditary dentin defect [Term] @@ -348359,7 +353710,7 @@ xref: Orphanet:493 {source="MONDO:equivalentTo"} xref: SCTID:716774008 {source="MONDO:kboom-pr-1.00/0.78/6.84", source="MONDO:equivalentTo"} xref: UMLS:C0546476 {source="Orphanet:493"} is_a: MONDO:0002527 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! keratoacanthoma -is_a: MONDO:0003847 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-14", source="Orphanet:493/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-14", source="Orphanet:493/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0015950 {source="Orphanet:493"} ! inherited skin tumor is_a: MONDO:0019300 {source="Orphanet:493"} ! rare skin tumor or hamartoma intersection_of: MONDO:0002527 ! keratoacanthoma @@ -348398,7 +353749,7 @@ xref: Orphanet:49382 {source="DOID:13911", source="MONDO:equivalentTo"} xref: SCTID:102450007 {source="MONDO:kboom-pr-0.97/0.77/2.51", source="MONDO:equivalentTo"} xref: SCTID:56852002 {source="DOID:13911"} xref: UMLS:C0152200 {source="DOID:13911", source="Orphanet:49382", source="ORDO:49382/e", source="NCIT:C84528", source="MONDO:equivalentTo"} -is_a: MONDO:0001703 {source="DOID:13911", source="MONDOLEX:0018852", source="Orphanet:49382", source="linkedlifedata"} ! color vision disorder +is_a: MONDO:0001703 {source="DOID:13911", source="MONDOLEX:0018852", source="Orphanet:49382", source="linkedlifedata", source="linkedlifedata/inferred"} ! color vision disorder is_a: MONDO:0020208 {source="Orphanet:49382"} ! syndromic myopia relationship: disease_has_feature HP:0000646 {source="Wikidata"} ! Amblyopia relationship: disease_has_feature MONDO:0001020 {source="Wikidata"} ! amblyopia (disease) @@ -348718,7 +354069,7 @@ xref: SCTID:44359008 {source="DOID:10581"} xref: SCTID:66521008 {source="MONDO:kboom-pr-0.89/0.77/0.11", source="MONDO:equivalentTo"} xref: UMLS:C0023522 {source="ORDO:512/e", source="NCIT:C61251", source="DOID:10581", source="MONDO:equivalentTo", source="Orphanet:512"} xref: UMLS:C2713319 {source="ORDO:512/e", source="Orphanet:512"} -is_a: MONDO:0002561 {source="MESH:D007966/inferred", source="MONDO:Redundant", source="NCIT:C61251", source="Orphanet:512/inferred", source="linkedlifedata"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="DOID:10581/inferred", source="MESH:D007966/inferred", source="MONDO:Redundant", source="NCIT:C61251", source="Orphanet:512/inferred", source="linkedlifedata"} ! lysosomal storage disease is_a: MONDO:0015955 {source="MONDO:Entailed"} ! rare genetic epilepsy is_a: MONDO:0016133 {source="Orphanet:512"} ! rare hereditary metabolic disease with peripheral neuropathy is_a: MONDO:0018299 {source="Orphanet:512"} ! sphingolipidosis with epilepsy @@ -349290,7 +354641,7 @@ xref: UMLS:C0265321 {source="Orphanet:53719", source="MONDO:equivalentTo", sourc is_a: MONDO:0015405 {source="Orphanet:53719", source="linkedlifedata"} ! cerebrofacial arteriovenous metameric syndrome is_a: MONDO:0019293 {source="Orphanet:53719"} ! skin vascular disease is_a: MONDO:0020182 {source="Orphanet:53719"} ! palpebral tumor with a vascular malformation -is_a: MONDO:0042983 {source="https://en.wikipedia.org/wiki/Phakomatosis"} ! neurocutaneous syndrome +is_a: MONDO:0042983 {source="MESH:C536752", source="https://en.wikipedia.org/wiki/Phakomatosis", source="linkedlifedata"} ! neurocutaneous syndrome [Term] id: MONDO:0018893 @@ -349313,7 +354664,7 @@ xref: UMLS:C0346068 {source="NCIT:C4485", source="ORDO:53721/e", source="MONDO:e is_a: MONDO:0015145 {source="Orphanet:53721"} ! neurovascular malformation is_a: MONDO:0015356 {source="NCIT:C4485"} ! hereditary neoplastic syndrome is_a: MONDO:0016234 {source="Orphanet:53721"} ! rare arteriovenous malformation -is_a: MONDO:0019293 {source="Orphanet:53721"} ! skin vascular disease +is_a: MONDO:0019293 {source="Orphanet:53721", source="linkedlifedata/inferred"} ! skin vascular disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/11892/cobb-syndrome xsd:anyURI {source="GARD:0011892"} [Term] @@ -349387,7 +354738,7 @@ xref: UMLS:C0034155 {source="ORDO:54057/e", source="Orphanet:54057", source="NCI is_a: MONDO:0002305 {source="DOID:10772", source="MESH:D011697"} ! thrombophilia is_a: MONDO:0016635 {source="Orphanet:54057"} ! rare thrombotic disorder due to a platelet anomaly is_a: MONDO:0019737 {source="MESH:D011697/inferred", source="NCIT:C78797", source="Orphanet:54057", source="linkedlifedata"} ! thrombotic microangiopathy -is_a: MONDO:0043768 {source="MONDOLEX:0018896", source="NCIT:C78797"} ! thrombocytopenic purpura +is_a: MONDO:0043768 {source="MESH:D011697", source="MONDOLEX:0018896", source="NCIT:C78797", source="linkedlifedata"} ! thrombocytopenic purpura [Term] id: MONDO:0018897 @@ -349416,7 +354767,7 @@ xref: Orphanet:542 {source="MONDO:equivalentTo"} xref: SCTID:400001003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1276146 {source="Orphanet:542", source="ORDO:542/e"} xref: UMLS:C1302772 {source="Orphanet:542", source="NCIT:C7162", source="ORDO:542/e", source="MONDO:equivalentTo"} -is_a: MONDO:0002898 {source="MONDO:Entailed", source="NCIT:C7162", source="linkedlifedata"} ! skin cancer +is_a: MONDO:0002898 {source="MONDO:Entailed", source="NCIT:C7162", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin cancer is_a: MONDO:0017207 {source="Orphanet:542"} ! primary organ-specific lymphoma is_a: MONDO:0019300 {source="Orphanet:542"} ! rare skin tumor or hamartoma @@ -349559,7 +354910,7 @@ xref: OMIM:615008 {source="Orphanet:54370", source="ORDO:54370/btnt", source="MO xref: Orphanet:54370 {source="MONDO:equivalentTo"} xref: SCTID:80321008 {source="MONDO:kboom-pr-0.92/0.83/0.21", source="MONDO:equivalentTo"} xref: UMLS:C0017662 {source="ORDO:54370/e", source="Orphanet:54370", source="NCIT:C34644", source="MONDO:equivalentTo"} -is_a: MONDO:0002462 {source="MONDOLEX:0018904", source="NCIT:C34644", source="linkedlifedata"} ! glomerulonephritis (disease) +is_a: MONDO:0002462 {source="MONDOLEX:0018904", source="NCIT:C34644", source="linkedlifedata", source="linkedlifedata/inferred"} ! glomerulonephritis (disease) is_a: MONDO:0015163 {source="Orphanet:54370"} ! primary glomerular disease [Term] @@ -349722,7 +355073,7 @@ xref: Orphanet:55 {source="MONDO:equivalentTo", source="DOID:0050632"} xref: SCTID:63844009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0078918 {source="NCIT:C84941", source="Orphanet:55", source="MONDO:equivalentTo", source="ORDO:55/e"} is_a: MONDO:0018134 {source="Orphanet:55"} ! disorder of melanin metabolism -is_a: MONDO:0019290 {source="Orphanet:55"} ! hypopigmentation of the skin (disease) +is_a: MONDO:0019290 {source="MESH:D016115/inferred", source="Orphanet:55"} ! hypopigmentation of the skin (disease) is_a: MONDO:0020275 {source="Orphanet:55"} ! oculocutaneous or ocular albinism relationship: excluded_subClassOf MONDO:0006025 {source="DOID:0050632"} ! autosomal recessive disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10958/oculocutaneous-albinism xsd:anyURI {source="GARD:0010958"} @@ -349764,7 +355115,7 @@ xref: OMIM:616511 {source="Orphanet:552", source="MONDO:superClassOf", source="O xref: Orphanet:552 {source="OMIM:606391", source="DOID:0050524", source="MONDO:equivalentTo"} xref: SCTID:609561005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0342276 {source="OMIM:606391", source="NCIT:C114769", source="Orphanet:552", source="NCBI:mim2gene_medline", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005015 {source="MESH:C562772/inferred", source="MONDO:Redundant", source="NCIT:C114769", source="Orphanet:552/inferred", source="linkedlifedata"} ! diabetes mellitus (disease) +is_a: MONDO:0005015 {source="MESH:C562772/inferred", source="MONDO:Redundant", source="NCIT:C114769", source="Orphanet:552/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! diabetes mellitus (disease) is_a: MONDO:0015887 {source="Orphanet:552"} ! rare diabetes mellitus type 2 is_a: MONDO:0015967 {source="Orphanet:552"} ! rare genetic diabetes mellitus property_value: confidence "3.0" xsd:double @@ -350272,7 +355623,7 @@ xref: SCTID:190066005 {source="DOID:285"} xref: SCTID:54087003 {source="EFO:1000956", source="DOID:285"} xref: SCTID:85228003 {source="DOID:285"} xref: UMLS:C0023443 {source="Orphanet:58017", source="ORDO:58017/e", source="NCIT:C7402", source="DOID:285", source="MONDO:equivalentTo"} -is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C7402", source="linkedlifedata"} ! chronic leukemia +is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C7402", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic leukemia is_a: MONDO:0004948 {source="DOID:285", source="EFO:1000956"} ! B-cell chronic lymphocytic leukemia is_a: MONDO:0004949 {source="EFO:1000956/inferred", source="MONDO:Redundant", source="NCIT:C7402", source="ONCOTREE:HCL"} ! neoplasm of mature B-cells is_a: MONDO:0005402 {source="MONDO:Redundant", source="NCIT:C7402"} ! lymphoid leukemia (disease) @@ -350362,7 +355713,7 @@ is_a: MONDO:0002254 {source="MONDOLEX:0018937", source="NCIT:C61262"} ! syndromi is_a: MONDO:0015955 {source="MONDO:Entailed"} ! rare genetic epilepsy is_a: MONDO:0016397 {source="Orphanet:581"} ! lysosomal disease with epilepsy is_a: MONDO:0019058 {source="Orphanet:581"} ! neurometabolic disease -is_a: MONDO:0019249 {source="DOID:12801", source="NCIT:C61262", source="Orphanet:581"} ! mucopolysaccharidosis +is_a: MONDO:0019249 {source="DOID:12801", source="NCIT:C61262", source="Orphanet:581", source="linkedlifedata"} ! mucopolysaccharidosis is_a: MONDO:0019706 {source="Orphanet:581"} ! lysosomal storage disease with skeletal involvement [Term] @@ -350414,7 +355765,7 @@ xref: SCTID:78856008 {source="DOID:12804"} xref: UMLS:C0026707 {source="DOID:12804", source="NCIT:C61263", source="Orphanet:582", source="ORDO:582/e", source="MONDO:equivalentTo"} xref: UMLS:C0086651 {source="DOID:12804", source="Orphanet:582", source="ORDO:582/e"} is_a: MONDO:0002254 {source="MONDOLEX:0018938", source="NCIT:C61263"} ! syndromic disease -is_a: MONDO:0002561 {source="PMID:21723623"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="DOID:12804/inferred", source="NCIT:C61263/inferred", source="Orphanet:582/inferred", source="PMID:21723623"} ! lysosomal storage disease is_a: MONDO:0019249 {source="DOID:12804", source="NCIT:C61263", source="Orphanet:582"} ! mucopolysaccharidosis is_a: MONDO:0019706 {source="Orphanet:582"} ! lysosomal storage disease with skeletal involvement is_a: MONDO:0020279 {source="Orphanet:582"} ! metabolic disease with corneal opacity @@ -350512,7 +355863,7 @@ xref: Orphanet:590 {source="DOID:3635", source="MONDO:equivalentTo"} xref: SCTID:230672006 {source="DOID:3635", source="MONDO:kboom-pr-0.99/0.73/5.42", source="MONDO:equivalentTo"} xref: UMLS:C0751882 {source="DOID:3635", source="ORDO:590/e", source="Orphanet:590", source="NCIT:C84647", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0018940", source="NCIT:C84647"} ! syndromic disease -is_a: MONDO:0020124 {source="DOID:3635", source="MESH:D020294", source="MONDO:Entailed", source="Orphanet:590", source="Orphanet:590/inferred"} ! neuromuscular junction disease +is_a: MONDO:0020124 {source="DOID:3635", source="MESH:D020294", source="MONDO:Entailed", source="Orphanet:590", source="Orphanet:590/inferred", source="linkedlifedata/inferred"} ! neuromuscular junction disease is_a: MONDO:0020169 {source="Orphanet:590"} ! rare disorder with ptosis relationship: disease_has_basis_in_dysfunction_of GO:0031594 ! neuromuscular junction relationship: disease_has_feature HP:0003473 ! Fatigable weakness @@ -350577,7 +355928,7 @@ xref: Orphanet:593 {source="MONDO:equivalentTo"} xref: SCTID:699269005 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C2678065 {source="Orphanet:593", source="MEDGEN:kboom-pr98-c99", source="NCIT:C83009", source="MONDO:equivalentTo"} is_a: MONDO:0002921 {source="MESH:C580316"} ! congenital structural myopathy -is_a: MONDO:0005336 {source="DOID:0080307", source="MONDO:Redundant", source="NCIT:C83009", source="linkedlifedata"} ! myopathy +is_a: MONDO:0005336 {source="DOID:0080307", source="MONDO:Redundant", source="NCIT:C83009", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopathy is_a: MONDO:0016110 {source="Orphanet:593"} ! non-dystrophic myopathy [Term] @@ -350762,8 +356113,8 @@ xref: Orphanet:599 {source="MONDO:equivalentTo"} xref: Orphanet:63273 {source="DOID:11720", source="MONDO:superClassOf"} xref: SCTID:58795000 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:11720", source="MONDO:equivalentTo"} xref: UMLS:C0751336 {source="NCIT:C84675", source="MEDGEN:kboom-pr98-c99", source="DOID:11720", source="MONDO:equivalentTo", source="Orphanet:599"} -is_a: MONDO:0020120 {source="MONDO:Redundant", source="Orphanet:599", source="Orphanet:599/inferred", source="linkedlifedata"} ! skeletal muscle disease -is_a: MONDO:0020121 {source="DOID:11720", source="NCIT:C84675", source="linkedlifedata"} ! muscular dystrophy +is_a: MONDO:0020120 {source="MONDO:Redundant", source="Orphanet:599", source="Orphanet:599/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skeletal muscle disease +is_a: MONDO:0020121 {source="DOID:11720", source="NCIT:C84675", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy [Term] id: MONDO:0018950 @@ -350921,7 +356272,7 @@ xref: OMIM:613071 {source="Orphanet:60033", source="MONDO:superClassOf", source= xref: Orphanet:60033 {source="MONDO:equivalentTo"} xref: SCTID:233629001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0339985 {source="ORDO:60033/e", source="Orphanet:60033", source="MONDO:equivalentTo"} -is_a: MONDO:0004822 {source="linkedlifedata"} ! bronchiectasis +is_a: MONDO:0004822 {source="linkedlifedata", source="linkedlifedata/inferred"} ! bronchiectasis is_a: MONDO:0015118 {source="Orphanet:60033"} ! rare pulmonary disease is_a: MONDO:0015510 {source="Orphanet:60033"} ! rare genetic respiratory disease property_value: confidence "19.99999999999998" xsd:double @@ -350933,6 +356284,7 @@ def: "Pudendal neuralgia (PN) is a chronic neuropathic pain, aggravated by sitti subset: gard_rare {source="GARD:0010713"} subset: ordo_disease {source="Orphanet:60039"} synonym: "Alcock syndrome" EXACT [Orphanet:60039] +synonym: "neuralgia of pudendal nerve" EXACT [MONDO:design_pattern] synonym: "pudendal algia" EXACT [Orphanet:60039] synonym: "pudendal nerve entrapment syndrome" EXACT [Orphanet:60039] synonym: "pudendal nerve neuralgia" EXACT [MONDO:patterns/location] @@ -351108,11 +356460,11 @@ xref: OMIM:277410 {source="ORDO:622/btnt", source="MONDO:relatedTo", source="MON xref: Orphanet:622 {source="MONDO:equivalentTo"} xref: SCTID:721225009 {source="MONDO:equivalentTo"} xref: UMLS:C4303479 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004737 {source="linkedlife"} ! homocystinuria (disease) -is_a: MONDO:0006025 {source="linkedlife"} ! autosomal recessive disease +is_a: MONDO:0004737 {source="linkedlifedata"} ! homocystinuria (disease) +is_a: MONDO:0006025 {source="linkedlifedata"} ! autosomal recessive disease is_a: MONDO:0019058 {source="Orphanet:622"} ! neurometabolic disease is_a: MONDO:0019220 {source="Orphanet:622"} ! inborn disorder of cobalamin metabolism and transport -is_a: MONDO:0019222 {source="Orphanet:622"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism +is_a: MONDO:0019222 {source="Orphanet:622", source="linkedlifedata/inferred"} ! inborn disorder of methionine cycle and sulfur amino acid metabolism is_a: MONDO:0020109 {source="Orphanet:622"} ! constitutional megaloblastic anemia due to vitamin B12 metabolism disorder [Term] @@ -351177,7 +356529,7 @@ xref: Orphanet:63259 {source="MONDO:equivalentTo"} xref: SCTID:2438005 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0152234 {source="NCIT:C124549", source="ORDO:63259/e", source="MONDO:equivalentTo", source="Orphanet:63259"} is_a: MONDO:0017059 {source="Orphanet:63259"} ! neural tube closure defect -is_a: MONDO:0018075 {source="MONDO:Redundant", source="NCIT:C124549", source="Orphanet:63259/inferred", source="linkedlifedata"} ! neural tube defect +is_a: MONDO:0018075 {source="MONDO:Redundant", source="NCIT:C124549", source="Orphanet:63259/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neural tube defect property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10506/iniencephaly xsd:anyURI {source="GARD:0010506"} [Term] @@ -351197,7 +356549,7 @@ xref: NCIT:C98907 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equiva xref: Orphanet:63260 {source="MONDO:equivalentTo"} xref: SCTID:32219008 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0152426 {source="Orphanet:63260", source="MONDO:equivalentTo", source="ORDO:63260/e", source="NCIT:C98907"} -is_a: MONDO:0002320 {source="NCIT:C98907"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="NCIT:C98907"} ! congenital nervous system disorder is_a: MONDO:0017059 {source="Orphanet:63260"} ! neural tube closure defect [Term] @@ -351410,12 +356762,12 @@ xref: OMIM:607625 {source="ORDO:646/btnt", source="Orphanet:646", source="MONDO: xref: Orphanet:646 {source="MONDO:equivalentTo"} xref: SCTID:66751000 {source="MONDO:equivalentTo"} xref: UMLS:C0220756 {source="ORDO:646/e", source="Orphanet:646"} -is_a: MONDO:0001982 {source="MESH:D052556", source="MONDO:cjm", source="Orphanet:646"} ! Niemann-Pick disease -is_a: MONDO:0002561 {source="PMID:21723623"} ! lysosomal storage disease +is_a: MONDO:0001982 {source="MESH:D052556", source="MONDO:cjm", source="Orphanet:646", source="linkedlifedata"} ! Niemann-Pick disease +is_a: MONDO:0002561 {source="MESH:D052556/inferred", source="Orphanet:646/inferred", source="PMID:21723623", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0017037 {source="Orphanet:646"} ! secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease is_a: MONDO:0018299 {source="Orphanet:646"} ! sphingolipidosis with epilepsy is_a: MONDO:0019058 {source="Orphanet:646"} ! neurometabolic disease -is_a: MONDO:0019245 {source="PMID:21502308"} ! lysosomal lipid storage disorder +is_a: MONDO:0019245 {source="MESH:D052556/inferred", source="Orphanet:646", source="PMID:21502308", source="linkedlifedata/inferred"} ! lysosomal lipid storage disorder is_a: MONDO:0020143 {source="Orphanet:646"} ! cerebral lipidosis with dementia is_a: MONDO:0020244 {source="Orphanet:646"} ! unclassified primitive or secondary maculopathy is_a: MONDO:0020257 {source="Orphanet:646"} ! supranuclear oculomotor palsy @@ -351445,7 +356797,7 @@ xref: SCTID:95794005 {source="MONDO:kboom-pr-0.88/0.76/0.10", source="DOID:1278" xref: UMLS:C0040381 {source="DOID:1278", source="NCIT:C85193", source="ORDO:64686/e", source="Orphanet:64686", source="MONDO:equivalentTo"} xref: UMLS:C0392060 {source="MEDGEN:kboom-pr98-c99", source="ORDO:64686/e", source="Orphanet:64686", source="MONDO:equivalentTo"} xref: UMLS:CN205421 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001584 {source="DOID:1278", source="linkedlifedata"} ! ocular motility disease +is_a: MONDO:0001584 {source="DOID:1278", source="linkedlifedata", source="linkedlifedata/inferred"} ! ocular motility disease is_a: MONDO:0002254 {source="MONDOLEX:0018983", source="NCIT:C85193"} ! syndromic disease is_a: MONDO:0015083 {source="Orphanet:64686"} ! nuclear oculomotor paralysis is_a: MONDO:0020127 {source="OWLReasoner:2017"} ! genetic peripheral neuropathy @@ -351707,7 +357059,7 @@ xref: SCTID:205794007 {source="DOID:3490"} xref: SCTID:205824006 {source="MONDO:kboom-pr-0.69/0.36/0.08", source="DOID:3490", source="MONDO:equivalentTo"} xref: SCTID:88327006 {source="DOID:3490"} xref: UMLS:C0028326 {source="NCIT:C34854", source="Orphanet:648", source="DOID:3490", source="MONDO:equivalentTo", source="ORDO:648/e"} -is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C34854"} ! syndromic disease +is_a: MONDO:0002254 {source="DOID:3490", source="MONDO:Redundant", source="NCIT:C34854"} ! syndromic disease is_a: MONDO:0015160 {source="Orphanet:648"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0015218 {source="Orphanet:648"} ! syndromic developmental defect of the eye is_a: MONDO:0015906 {source="Orphanet:648"} ! rare disorder with hypergonadotropic hypogonadism @@ -351765,8 +357117,8 @@ xref: OMIMPS:204000 {source="DOID:14791", source="MONDO:equivalentTo"} xref: Orphanet:65 {source="DOID:14791", source="MONDO:equivalentTo"} xref: SCTID:193413001 {source="DOID:14791", source="MONDO:kboom-pr-0.90/0.75/0.49", source="MONDO:equivalentTo"} xref: UMLS:C0339527 {source="NCIT:C129075", source="DOID:14791", source="Orphanet:65", source="MONDO:equivalentTo", source="ORDO:65/e"} -is_a: MONDO:0005283 {source="DOID:14791", source="MESH:D057130", source="MONDO:Redundant", source="linkedlifedata"} ! retinal disease -is_a: MONDO:0019118 {source="Orphanet:65", source="Orphanet:65/inferred", source="linkedlifedata"} ! genetic retinal dystrophy +is_a: MONDO:0005283 {source="DOID:14791", source="MESH:D057130", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! retinal disease +is_a: MONDO:0019118 {source="Orphanet:65", source="Orphanet:65/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy is_a: MONDO:0020210 {source="Orphanet:65"} ! syndromic hyperopia is_a: MONDO:0020211 {source="Orphanet:65"} ! syndromic keratoconus property_value: confidence "0.30809469528042244" xsd:double @@ -351868,12 +357220,16 @@ id: MONDO:0019004 name: kidney Wilms tumor def: "An embryonal pediatric tumor of the kidney which may also be seen rarely in adults. The peak incidence of Wilms tumor is between the second and fifth year of life. Microscopically, it is composed of a mixture of cellular elements (blastemal, stromal, and epithelial). The most common sites of metastasis include the regional lymph nodes, lungs, and liver." [NCIT:C40407] subset: ordo_disease {source="Orphanet:654"} +synonym: "adult nephroblastoma" EXACT [DOID:2154] +synonym: "adult renal Wilms' tumor" EXACT [DOID:2154] synonym: "childhood renal Wilms tumor" NARROW [DOID:2154] synonym: "childhood renal Wilms' cancer" NARROW [DOID:2154] synonym: "embryonal nephroma" EXACT [NCIT:C40407] synonym: "kidney Wilms tumor" EXACT [NCIT:C40407] synonym: "nephroblastoma" EXACT [NCIT:C40407] synonym: "nephroblastoma, malignant" EXACT [NCIT:C40407] +synonym: "Nonanaplastic renal Wilm's tumor" EXACT [DOID:5176] +synonym: "nonanaplastic renal wilms tumor" RELATED [DOID:5176] synonym: "renal embryonic tumor" EXACT [Orphanet:654] synonym: "renal Wilms tumor" EXACT [NCIT:C40407] synonym: "renal Wilms' tumor" EXACT [NCIT:C40407] @@ -351900,7 +357256,7 @@ xref: Orphanet:654 {source="MONDO:equivalentTo"} xref: UMLS:C0027708 {source="ORDO:654/e", source="NCIT:C40407", source="MONDO:equivalentTo", source="Orphanet:654"} xref: UMLS:CL343552 {source="ONCOTREE:WT"} is_a: MONDO:0006058 {source="NCIT:C40407"} ! Wilms tumor -is_a: MONDO:0006295 {source="MONDO:Redundant", source="NCIT:C40407/inferred", source="OWLReasoner:Elk-2018-01-05"} ! malignant urinary system neoplasm +is_a: MONDO:0006295 {source="DOID:2154/inferred", source="DOID:5176/inferred", source="MONDO:Redundant", source="NCIT:C40407/inferred", source="OWLReasoner:Elk-2018-01-05"} ! malignant urinary system neoplasm is_a: MONDO:0019749 {source="MONDO:Entailed", source="Orphanet:654"} ! rare renal tumor relationship: excluded_subClassOf MONDO:0015963 {source="Orphanet:654"} ! inherited renal tumor @@ -352095,10 +357451,10 @@ xref: SCTID:74263009 {source="DOID:0060234"} xref: SCTID:83728000 {source="DOID:0060234", source="MONDO:relatedTo"} xref: UMLS:C1275078 {source="DOID:0060234", source="MEDGEN:kboom-pr99-c99", source="Orphanet:65759", source="ORDO:65759/e", source="MONDO:equivalentTo"} xref: UMLS:CN229565 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000078 {source="https://en.wikipedia.org/wiki/Carpenter_syndrome"} ! acrocephalopolysyndactyly +is_a: MONDO:0000078 {source="https://en.wikipedia.org/wiki/Carpenter_syndrome", source="linkedlifedata"} ! acrocephalopolysyndactyly is_a: MONDO:0015160 {source="Orphanet:65759"} ! multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome is_a: MONDO:0016565 {source="Orphanet:65759"} ! syndromic obesity -is_a: MONDO:0019796 {source="DOID:0060234", source="NCIT:C98873", source="Orphanet:65759", source="linkedlifedata"} ! acrocephalosyndactyly +is_a: MONDO:0019796 {source="DOID:0060234", source="NCIT:C98873", source="Orphanet:65759", source="linkedlifedata", source="linkedlifedata/inferred"} ! acrocephalosyndactyly is_a: MONDO:0043007 {source="Orphanet:65759"} ! genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome [Term] @@ -352166,7 +357522,7 @@ xref: SCTID:49324006 {source="DOID:0060327"} xref: SCTID:5867007 {source="DOID:0060327"} xref: UMLS:C0795690 {source="DOID:0060327", source="NCIT:C98997", source="Orphanet:660", source="ORDO:660/e", source="MONDO:equivalentTo"} xref: UMLS:C1306503 {source="DOID:0060327"} -is_a: MONDO:0000839 {source="DOID:0060327"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:0060327", source="NCIT:C98997"} ! congenital abnormality is_a: MONDO:0015215 {source="Orphanet:660"} ! non-syndromic diaphragmatic or abdominal wall malformation [Term] @@ -352384,7 +357740,7 @@ xref: SCTID:307591004 {source="DOID:355"} xref: SCTID:397010005 {source="DOID:355"} xref: UMLS:C0036221 {source="Orphanet:66661", source="ORDO:66661/e", source="DOID:355", source="NCIT:C9348", source="MONDO:equivalentTo"} is_a: MONDO:0005089 {source="DOID:355", source="EFO:1000364", source="MONDO:Entailed", source="linkedlifedata"} ! sarcoma -is_a: MONDO:0007950 {source="NCIT:C9348/inferred", source="ONCOTREE:MCSL", source="Orphanet:66661"} ! mastocytosis +is_a: MONDO:0007950 {source="MESH:D012515", source="NCIT:C9348/inferred", source="ONCOTREE:MCSL", source="Orphanet:66661"} ! mastocytosis intersection_of: MONDO:0005089 ! sarcoma intersection_of: disease_has_location CL:0000097 ! mast cell @@ -352403,7 +357759,7 @@ xref: NCIT:C7136 {source="EFO:1000932", source="exact-label-match", source="DOID xref: Orphanet:66662 {source="MONDO:equivalentTo"} xref: SCTID:63175003 {source="MONDO:kboom-pr-1.00/0.74/5.82", source="EFO:1000932", source="DOID:4659", source="MONDO:equivalentTo"} xref: UMLS:C0272202 {source="Orphanet:66662", source="NCIT:C7136", source="ORDO:66662/e", source="DOID:4659", source="MONDO:equivalentTo"} -is_a: MONDO:0002724 {source="DOID:4659", source="MONDO:Redundant", source="NCIT:C7136/inferred", source="linkedlifedata"} ! mast cell neoplasm +is_a: MONDO:0002724 {source="DOID:4659", source="MONDO:Redundant", source="NCIT:C7136/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! mast cell neoplasm is_a: MONDO:0003079 {source="NCIT:C7136", source="linkedlifedata"} ! mastocytoma is_a: MONDO:0015958 {source="OWLReasoner:2017"} ! rare genetic bone disease is_a: MONDO:0016586 {source="DOID:4659"} ! systemic mastocytosis @@ -352615,7 +357971,7 @@ xref: UMLS:C0038868 {source="Orphanet:683", source="NCIT:C85028", source="DOID:6 xref: UMLS:CN205522 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0019037", source="NCIT:C85028"} ! syndromic disease is_a: MONDO:0004884 {source="MONDO:Entailed"} ! eye degenerative disease -is_a: MONDO:0005559 {source="MESH:D013494/inferred", source="MONDO:Redundant", source="NCIT:C85028", source="Orphanet:683/inferred", source="linkedlifedata"} ! neurodegenerative disease +is_a: MONDO:0005559 {source="MESH:D013494/inferred", source="MONDO:Redundant", source="NCIT:C85028", source="Orphanet:683/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease is_a: MONDO:0015547 {source="MONDO:Redundant", source="Orphanet:683", source="Orphanet:683/inferred"} ! genetic dementia is_a: MONDO:0015952 {source="MONDO:Redundant", source="Orphanet:683", source="Orphanet:683/inferred"} ! genetic neurodegenerative disease is_a: MONDO:0017643 {source="Orphanet:683"} ! frontotemporal neurodegeneration with movement disorder @@ -352678,7 +358034,7 @@ xref: Orphanet:68335 {source="MONDO:equivalentTo"} xref: SCTID:409709004 {source="MONDO:kboom-pr-1.00/0.81/11.58", source="MONDO:equivalentTo"} xref: UMLS:C0008625 {source="Orphanet:68335", source="ORDO:68335/e"} xref: UMLS:C0008626 {source="Orphanet:68335"} -is_a: MONDO:0003847 {source="DOID:0080014", source="MESH:D025063", source="Orphanet:68335"} ! inherited genetic disease +is_a: MONDO:0003847 {source="DOID:0080014", source="MESH:D025063", source="NCIT:C34470", source="Orphanet:68335"} ! inherited genetic disease is_a: MONDO:0019755 {source="Orphanet:68335"} ! developmental defect during embryogenesis is_a: MONDO:0021198 {source="Orphanet:68335"} ! rare genetic disease @@ -352825,6 +358181,7 @@ def: "An inherited disorder characterized by structural alterations of a globin subset: ordo_group_of_disorders {source="Orphanet:68364"} synonym: "hemoglobinopathies" EXACT [DOID:2860] synonym: "Hemoglobinopathies / iron metabolism" EXACT [NCIT:C3092] +synonym: "hemoglobinopathy" RELATED [DOID:2860] synonym: "hereditary hemoglobinopathy" EXACT [] xref: COHD:432868 {source="MONDO:equivalentTo"} xref: DOID:2860 {source="MONDO:equivalentTo"} @@ -352857,7 +358214,7 @@ xref: SCTID:427306008 {source="MONDO:equivalentTo"} xref: SCTID:80141007 {source="DOID:2860", source="MONDO:subClassOf"} xref: UMLS:C0019045 {source="NCIT:C3092", source="DOID:2860", source="Orphanet:68364", source="ORDO:68364/e", source="MONDO:equivalentTo"} xref: UMLS:C1960031 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0044348 {source="linkedlife"} ! hemoglobinopathy +is_a: MONDO:0044348 {source="linkedlifedata"} ! hemoglobinopathy intersection_of: MONDO:0044348 ! hemoglobinopathy intersection_of: has_modifier MONDO:0021152 ! genetic and inherited relationship: excluded_subClassOf MONDO:0003689 {source="DOID:2860"} ! familial hemolytic anemia @@ -352896,7 +358253,7 @@ xref: SCTID:86095007 {source="MONDO:kboom-pr-1.00/0.79/8.50", source="DOID:655", xref: UMLS:C0025517 {source="Orphanet:68367", source="ORDO:68367/e", source="MONDO:subClassOf"} xref: UMLS:C0025521 {source="Orphanet:68367", source="NCIT:C34816", source="DOID:655", source="ORDO:68367/e", source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="MESH:D008661", source="MONDO:Entailed", source="OWLReasoner:2017", source="Orphanet:68367", source="linkedlifedata"} ! inherited genetic disease -is_a: MONDO:0005066 {source="MESH:D008661", source="MONDO:Entailed", source="NCIT:C34816", source="OWLReasoner:2017", source="linkedlifedata"} ! metabolic disease +is_a: MONDO:0005066 {source="DOID:655", source="MESH:D008661", source="MONDO:Entailed", source="NCIT:C34816", source="OWLReasoner:2017", source="linkedlifedata"} ! metabolic disease intersection_of: MONDO:0005066 ! metabolic disease intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -352919,7 +358276,7 @@ xref: NCIT:C85005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:906", s xref: Orphanet:68373 {source="MONDO:equivalentTo"} xref: SCTID:238059005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:906", source="MONDO:equivalentTo"} xref: UMLS:C0282528 {source="Orphanet:68373", source="ORDO:68373/e", source="NCIT:C85005", source="DOID:906", source="MONDO:equivalentTo"} -is_a: MONDO:0019052 {source="MONDO:Entailed", source="NCIT:C85005", source="Orphanet:68373", source="linkedlifedata"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:906", source="MONDO:Entailed", source="NCIT:C85005", source="Orphanet:68373", source="linkedlifedata"} ! inborn errors of metabolism is_a: MONDO:0100033 {source="http://orcid.org/0000-0001-8486-0558"} ! metabolic epilepsy intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0005777 ! peroxisome @@ -353086,8 +358443,8 @@ xref: SCTID:39912006 {source="DOID:2476", source="MONDO:kboom-pr-0.94/0.75/1.80" xref: SCTID:76043009 {source="DOID:2476", source="MONDO:superClassOf"} xref: UMLS:C0037773 {source="Orphanet:685", source="ORDO:685/e", source="DOID:2476"} xref: UMLS:C2931355 {source="Orphanet:685", source="MONDO:superClassOf"} -is_a: MONDO:0003757 {source="DOID:2476", source="linkedlifedata"} ! paraplegia -is_a: MONDO:0005559 {source="MONDO:Redundant", source="NCIT:C140267", source="Orphanet:685/inferred", source="linkedlifedata"} ! neurodegenerative disease +is_a: MONDO:0003757 {source="DOID:2476", source="linkedlifedata", source="linkedlifedata/inferred"} ! paraplegia +is_a: MONDO:0005559 {source="MESH:D015419/inferred", source="MONDO:Redundant", source="NCIT:C140267", source="Orphanet:685/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neurodegenerative disease is_a: MONDO:0015952 {source="Orphanet:685"} ! genetic neurodegenerative disease relationship: disease_has_feature HP:0001257 ! Spasticity relationship: disease_has_feature HP:0010550 ! Paraplegia @@ -353236,7 +358593,7 @@ xref: SCTID:235888006 {source="MONDO:kboom-pr-1.00/0.79/7.83", source="MONDO:equ xref: SCTID:4637005 {source="DOID:1852"} xref: UMLS:C0008372 {source="DOID:1852", source="MONDO:equivalentTo"} is_a: MONDO:0001751 {source="DOID:1852", source="MESH:D002780"} ! cholestasis -is_a: MONDO:0015115 {source="Orphanet:69665"} ! rare metabolic liver disease +is_a: MONDO:0015115 {source="EFO:0009048", source="Orphanet:69665"} ! rare metabolic liver disease is_a: MONDO:0015509 {source="MONDO:Entailed"} ! genetic biliary tract disease is_a: MONDO:0015582 {source="Orphanet:69665"} ! rare disorder related with pregnancy, childbirth and puerperium @@ -353384,7 +358741,7 @@ xref: OMIM:610753 {source="ORDO:700/btnt", source="Orphanet:700", source="MONDO: xref: Orphanet:700 {source="MONDO:equivalentTo"} xref: SCTID:19754005 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0263504 {source="ORDO:700/e", source="Orphanet:700", source="MONDO:equivalentTo"} -is_a: MONDO:0004907 {source="Orphanet:700", source="linkedlife"} ! alopecia +is_a: MONDO:0004907 {source="Orphanet:700", source="linkedlifedata"} ! alopecia property_value: confidence "1.1064814814814814" xsd:double [Term] @@ -353422,7 +358779,7 @@ xref: SCTID:200912002 {source="DOID:8506"} xref: SCTID:77090002 {source="DOID:8506", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.93/0.84/0.20"} xref: SCTID:86142006 {source="DOID:8506"} xref: UMLS:C0030805 {source="DOID:8506", source="NCIT:C84389", source="ORDO:703/e", source="Orphanet:703", source="MONDO:equivalentTo"} -is_a: MONDO:0019337 {source="EFO:0007187", source="Orphanet:703", source="linkedlifedata"} ! autoimmune bullous skin disease +is_a: MONDO:0019337 {source="EFO:0007187", source="Orphanet:703", source="linkedlifedata", source="linkedlifedata/inferred"} ! autoimmune bullous skin disease relationship: disease_has_feature HP:0008066 ! Abnormal blistering of the skin [Term] @@ -353502,7 +358859,7 @@ xref: UMLS:C0014859 {source="Orphanet:70482", source="MONDO:subClassOf"} xref: UMLS:C0152018 {source="ORDO:70482/e", source="NCIT:C3513", source="Orphanet:70482", source="DOID:1107", source="MONDO:equivalentTo"} xref: UMLS:C0546837 {source="Orphanet:70482", source="MONDO:subClassOf"} is_a: MONDO:0006181 {source="MONDO:Entailed", source="NCIT:C3513", source="OWLReasoner:2017"} ! digestive system carcinoma -is_a: MONDO:0007576 {source="DOID:1107", source="MONDO:Entailed", source="MONDOLEX:0019086", source="NCIT:C3513", source="linkedlife"} ! esophageal cancer +is_a: MONDO:0007576 {source="DOID:1107", source="MONDO:Entailed", source="MONDOLEX:0019086", source="NCIT:C3513", source="linkedlifedata"} ! esophageal cancer is_a: MONDO:0015881 {source="Orphanet:70482"} ! rare gastroesophageal tumor is_a: MONDO:0019041 {source="OWLReasoner:2017"} ! rare genetic inherited tumor intersection_of: MONDO:0004993 ! carcinoma @@ -353681,7 +359038,7 @@ xref: SCTID:58750007 {source="DOID:3482", source="MONDO:equivalentTo"} xref: UMLS:C0032064 {source="NCIT:C85015", source="Orphanet:707", source="DOID:3482", source="MONDO:equivalentTo", source="ORDO:707/e"} xref: UMLS:C0043407 {source="Orphanet:707", source="ORDO:707/e"} is_a: MONDO:0000314 {source="DOID:3482"} ! primary bacterial infectious disease -is_a: MONDO:0005113 {source="MESH:D010930/inferred", source="MONDO:Redundant", source="NCIT:C85015", source="linkedlifedata"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="DOID:3482/inferred", source="MESH:D010930/inferred", source="MONDO:Redundant", source="NCIT:C85015", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0015575 {source="Orphanet:707"} ! rare bacterial infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:632 ! Yersinia pestis @@ -353729,7 +359086,7 @@ xref: MedDRA:10050245 {source="ORDO:71203/e", source="Orphanet:71203"} xref: Orphanet:71203 {source="MONDO:equivalentTo"} xref: SCTID:128091003 {source="MONDO:equivalentTo"} xref: UMLS:C0242584 {source="ORDO:71203/e", source="Orphanet:71203", source="MONDO:equivalentTo"} -is_a: MONDO:0007179 {source="MONDO:cjm"} ! autoimmune disease +is_a: MONDO:0007179 {source="MONDO:cjm", source="linkedlifedata"} ! autoimmune disease is_a: MONDO:0016631 {source="Orphanet:71203"} ! rare hemorrhagic disorder due to an acquired platelet anomaly intersection_of: MONDO:0002049 ! thrombocytopenia intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity @@ -354029,33 +359386,50 @@ relationship: has_modifier MONDO:0021136 {source="Orphanet:71859"} ! rare [Term] id: MONDO:0019118 -name: genetic retinal dystrophy -def: "An instance of retinal degeneration that is caused by a modification of the individual's genome." [MONDO:patterns/genetic] +name: inherited retinal dystrophy +comment: Editor note: This class deliberately merges distinct concepts of RD and inherited RD in other ontologies, as we believe these the same subset: ordo_group_of_disorders {source="Orphanet:71862"} -synonym: "fundus dystrophy" EXACT [MONDO:0004590] +synonym: "familial retinal dystrophy" EXACT [] +synonym: "fundus dystrophy" BROAD [MONDO:0004590] +synonym: "genetic retinal dystrophy" EXACT [] +synonym: "hereditary retinal dystrophy" EXACT [MONDO:0004589] synonym: "retinal dystrophy" EXACT [DOID:8501, NCIT:C35625] +xref: COHD:377270 {source="MONDO:equivalentTo"} xref: COHD:380395 {source="MONDO:equivalentTo"} +xref: DOID:8500 {source="MONDO:equivalentTo"} xref: DOID:8501 {source="MONDO:equivalentTo"} xref: HP:0000556 {source="MONDO:otherHierarchy", source="ontobio"} +xref: ICD10:H35.5 {source="DOID:8500", source="MONDO:equivalentTo"} +xref: ICD10:H35.50 {source="DOID:8500"} +xref: ICD9:362.7 {source="DOID:8500"} +xref: ICD9:362.70 {source="DOID:8500", source="i2s", source="MONDO:equivalentTo"} xref: ICD9:362.72 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:362.75 {source="i2s", source="MONDO:relatedTo"} xref: MedDRA:10038857 {source="Orphanet:71862", source="ORDO:71862/e"} xref: MESH:D058499 {source="Orphanet:71862", source="DOID:8501", source="ORDO:71862/e", source="MONDO:equivalentTo"} +xref: NCIT:C35194 {source="DOID:8500", source="MONDO:equivalentTo"} xref: NCIT:C35625 {source="DOID:8501", source="MONDO:equivalentTo"} xref: Orphanet:71862 {source="MONDO:equivalentTo"} +xref: SCTID:193399000 {source="DOID:8500"} +xref: SCTID:193417000 {source="DOID:8500"} +xref: SCTID:267615006 {source="DOID:8500"} xref: SCTID:314407005 {source="DOID:8501", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} +xref: SCTID:41799005 {source="MONDO:kboom-pr-1.00/0.91/29.27", source="DOID:8500", source="MONDO:equivalentTo"} +xref: UMLS:C0154860 {source="DOID:8500", source="NCIT:C35194", source="MONDO:equivalentTo"} xref: UMLS:C0854723 {source="Orphanet:71862", source="DOID:8501", source="ORDO:71862/e", source="MONDO:equivalentTo", source="NCIT:C35625"} -is_a: MONDO:0020238 {source="Orphanet:71862"} ! genetic vitreous-retinal disease +is_a: MONDO:0020238 {source="Orphanet:71862"} ! inherited vitreous-retinal disease intersection_of: MONDO:0004580 ! retinal degeneration -intersection_of: has_modifier MONDO:0021150 ! genetic +intersection_of: has_modifier MONDO:0021152 ! genetic and inherited relationship: disease_causes_dysfunction_of UBERON:0000966 ! retina relationship: disease_has_feature HP:0000556 ! Retinal dystrophy +relationship: excluded_subClassOf MONDO:0019118 {source="DOID:8500", source="NCIT:C35194", source="linkedlifedata"} ! inherited retinal dystrophy [Term] id: MONDO:0019119 name: muscular channelopathy def: "A channelopathy that involves the muscle tissue." [MONDO:patterns/location] subset: ordo_group_of_disorders {source="Orphanet:71864"} +synonym: "channelopathy of muscle tissue" EXACT [MONDO:design_pattern] synonym: "muscle tissue channelopathy" EXACT [MONDO:patterns/location] xref: EFO:1001899 {source="MONDO:equivalentTo"} xref: Orphanet:71864 {source="MONDO:equivalentTo"} @@ -354107,7 +359481,7 @@ xref: SCTID:88860002 {source="DOID:11339"} xref: UMLS:C0032305 {source="GARD:0004386"} xref: UMLS:C1535939 {source="DOID:11339", source="NCIT:C3334", source="MEDGEN:kboom-pr98-c99", source="Orphanet:723", source="MONDO:equivalentTo"} is_a: MONDO:0002312 {source="DOID:11339"} ! opportunistic mycosis -is_a: MONDO:0005249 {source="MESH:D011020", source="NCIT:C3334", source="linkedlifedata"} ! pneumonia +is_a: MONDO:0005249 {source="MESH:D011020", source="NCIT:C3334", source="linkedlifedata", source="linkedlifedata/inferred"} ! pneumonia is_a: MONDO:0015578 {source="MONDO:Entailed", source="Orphanet:723"} ! rare mycosis is_a: MONDO:0020008 {source="OWLReasoner:2017"} ! rare immune disease relationship: realized_in_response_to_stimulus NCBITaxon:42068 ! Pneumocystis jirovecii @@ -354139,7 +359513,7 @@ xref: UMLS:C0242459 {source="NCIT:C35301", source="DOID:9503", source="MONDO:equ xref: UMLS:C4518469 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} xref: UMLS:CN227574 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:Redundant", source="NCIT:C35301"} ! syndromic disease -is_a: MONDO:0004802 {source="DOID:9503", source="SCTID:64936001", source="linkedlifedata"} ! pulmonary eosinophilia +is_a: MONDO:0004802 {source="DOID:9503", source="linkedlifedata"} ! pulmonary eosinophilia is_a: MONDO:0005749 {source="DOID:9503", source="MONDOLEX:0019122", source="NCIT:C35301"} ! eosinophilic pneumonia is_a: MONDO:0015927 {source="Orphanet:724"} ! idiopathic eosinophilic pneumonia @@ -354184,7 +359558,7 @@ xref: UMLS:C2347126 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo" is_a: MONDO:0015492 {source="MESH:D055953", source="Orphanet:727"} ! Anti-neutrophil cytoplasmic antibody-associated vasculitis is_a: MONDO:0016177 {source="Orphanet:727"} ! systemic inflammatory disease associated with an acquired peripheral neuropathy is_a: MONDO:0019724 {source="Orphanet:727"} ! secondary glomerular disease -is_a: MONDO:0043494 {source="NCIT:C70549"} ! arteritis +is_a: MONDO:0043494 {source="NCIT:C70549", source="linkedlifedata/inferred"} ! arteritis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3652/microscopic-polyangiitis xsd:anyURI {source="GARD:0003652"} [Term] @@ -354243,7 +359617,7 @@ xref: UMLS:C0085655 {source="ORDO:732/e", source="NCIT:C26925", source="MONDO:eq xref: Wikipedia:Polymyositis {source="EFO:0003063"} is_a: MONDO:0019724 {source="Orphanet:732"} ! secondary glomerular disease is_a: MONDO:0020122 {source="Orphanet:732"} ! idiopathic inflammatory myopathy -is_a: MONDO:0021167 {source="EFO:0003063", source="MESH:D017285", source="MONDOLEX:0019127", source="NCIT:C26925", source="linkedlifedata"} ! myositis +is_a: MONDO:0021167 {source="EFO:0003063", source="MESH:D017285", source="MONDOLEX:0019127", source="NCIT:C26925", source="linkedlifedata", source="linkedlifedata/inferred"} ! myositis [Term] id: MONDO:0019128 @@ -354339,7 +359713,7 @@ xref: Orphanet:73256 {source="MONDO:equivalentTo"} xref: SCTID:128858006 {source="DOID:14174"} xref: SCTID:302832007 {source="DOID:14174"} xref: UMLS:C0206719 {source="ORDO:73256/e", source="DOID:14174", source="Orphanet:73256", source="MONDO:equivalentTo", source="NCIT:C3791"} -is_a: MONDO:0002682 {source="EFO:1000856", source="NCIT:C3791"} ! cerebral ventricle cancer +is_a: MONDO:0002682 {source="DOID:14174", source="EFO:1000856", source="NCIT:C3791"} ! cerebral ventricle cancer is_a: MONDO:0016726 {source="Orphanet:73256"} ! neuronal tumor is_a: MONDO:0016729 {source="NCIT:C3791"} ! mixed neuronal-glial tumor relationship: excluded_subClassOf MONDO:0002682 {source="DOID:14174"} ! cerebral ventricle cancer @@ -354354,12 +359728,12 @@ replaced_by: MONDO:0005894 [Term] id: MONDO:0019136 -name: zygomycosis +name: Zygomycosis def: "Any infection due to a fungus of the Zygomycota phylum. The disease typically involves the rhino-facial-cranial area, lungs, gastrointestinal tract, skin, or less commonly other organ systems. The infecting fungi have a predilection for invading vessels of the arterial system, causing embolization and subsequent necrosis of surrounding tissue." [NCIT:C77212] -comment: Editor note: todo find appropriate class in NCBITaxon subset: gard_rare {source="GARD:0010224"} subset: ordo_disease {source="Orphanet:73263"} synonym: "mucormycosis" EXACT [Orphanet:73263] +synonym: "Zygomycota infectious disease" EXACT [] xref: COHD:432830 {source="MONDO:equivalentTo"} xref: GARD:0010224 {source="MONDO:equivalentTo"} xref: ICD10:B46 {source="MONDO:equivalentTo"} @@ -354383,6 +359757,9 @@ xref: UMLS:C0026718 {source="Orphanet:73263", source="ORDO:73263/e"} xref: UMLS:C0043541 {source="NCIT:C77212", source="Orphanet:73263", source="ORDO:73263/e", source="MONDO:equivalentTo"} is_a: MONDO:0002041 {source="ICD10:B46", source="MESH:D020096", source="MONDO:Redundant", source="NCIT:C77212", source="linkedlifedata"} ! fungal infectious disease is_a: MONDO:0015578 {source="Orphanet:73263"} ! rare mycosis +intersection_of: MONDO:0005550 ! infectious disease +intersection_of: realized_in_response_to_stimulus NCBITaxon:451507 ! Mucoromycotina +relationship: has_modifier MONDO:0045035 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! opportunistic infectious property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10224/zygomycosis xsd:anyURI {source="GARD:0010224"} [Term] @@ -354401,7 +359778,7 @@ xref: ICD10:G47.24 {source="MONDO:equivalentTo"} xref: Orphanet:73267 {source="MONDO:equivalentTo"} xref: SCTID:230496009 {source="MONDO:equivalentTo"} xref: UMLS:C0751759 {source="Orphanet:73267"} -is_a: MONDO:0003406 {source="ICD10:G47.24", source="MONDO:Redundant"} ! sleep-wake disorder +is_a: MONDO:0003406 {source="ICD10:G47.24", source="ICD10:G47.24/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! sleep-wake disorder is_a: MONDO:0019045 {source="Orphanet:73267"} ! rare sleep disorder is_a: MONDO:0024361 {source="ICD10:G47.24", source="MONDO:Entailed", source="MONDOLEX:0019137"} ! circadian rhythm sleep disorder relationship: disease_has_basis_in_disruption_of GO:0007623 ! circadian rhythm @@ -354508,7 +359885,7 @@ xref: SCTID:418470004 {source="DOID:13268", source="MONDO:relatedTo"} xref: SCTID:86292002 {source="DOID:13268"} xref: UMLS:C0032708 {source="Orphanet:738", source="DOID:13268", source="NCIT:C97096", source="MONDO:equivalentTo", source="ORDO:738/e"} xref: UMLS:C0235387 {source="Orphanet:738"} -is_a: MONDO:0005066 {source="MESH:D011164", source="MONDO:Redundant", source="NCIT:C97096", source="Orphanet:738/inferred", source="linkedlifedata"} ! metabolic disease +is_a: MONDO:0005066 {source="DOID:13268/inferred", source="MESH:D011164", source="MONDO:Redundant", source="NCIT:C97096", source="Orphanet:738/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! metabolic disease is_a: MONDO:0015951 {source="Orphanet:738"} ! genetic photodermatosis is_a: MONDO:0017754 {source="Orphanet:738"} ! inborn disorder of porphyrin metabolism is_a: MONDO:0019301 {source="Orphanet:738"} ! metabolic disease with skin involvement @@ -354535,8 +359912,8 @@ xref: NCIT:C128394 {source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equiv xref: Orphanet:74 {source="MONDO:equivalentTo"} xref: SCTID:61750000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.75/7.55"} xref: UMLS:C0392662 {source="NCIT:C128394", source="Orphanet:74", source="ORDO:74/e", source="MONDO:equivalentTo"} -is_a: MONDO:0004664 {source="DOID:0050256", source="MESH:C536369/inferred", source="linkedlifedata"} ! helminthiasis -is_a: MONDO:0005135 {source="MESH:C536369/inferred", source="MONDO:Redundant", source="NCIT:C128394", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0004664 {source="DOID:0050256", source="MESH:C536369/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! helminthiasis +is_a: MONDO:0005135 {source="DOID:0050256/inferred", source="MESH:C536369/inferred", source="MONDO:Redundant", source="NCIT:C128394", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection is_a: MONDO:0015577 {source="Orphanet:74"} ! rare parasitic disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/683/angiostrongyliasis xsd:anyURI {source="GARD:0000683"} @@ -354632,7 +360009,7 @@ xref: SCTID:266225001 {source="DOID:11080"} xref: SCTID:60412004 {source="DOID:11080", source="MONDO:kboom-pr-1.00/0.80/9.79", source="MONDO:equivalentTo"} xref: UMLS:C0027030 {source="DOID:11080", source="ORDO:75110/e", source="Orphanet:75110", source="NCIT:C128400", source="MONDO:equivalentTo"} is_a: MONDO:0002875 {source="DOID:11080", source="MESH:D009198"} ! parasitic ectoparasitic infectious disease -is_a: MONDO:0005135 {source="EFO:0007389", source="MESH:D009198/inferred", source="MONDO:Redundant", source="NCIT:C128400"} ! parasitic infection +is_a: MONDO:0005135 {source="DOID:11080/inferred", source="EFO:0007389", source="MESH:D009198/inferred", source="MONDO:Redundant", source="NCIT:C128400"} ! parasitic infection is_a: MONDO:0015577 {source="Orphanet:75110"} ! rare parasitic disease relationship: realized_in_response_to_stimulus NCBITaxon:7147 ! Diptera @@ -354671,9 +360048,9 @@ xref: SCTID:37896002 {source="DOID:14497"} xref: SCTID:82500001 {source="DOID:14497", source="MONDO:equivalentTo"} xref: UMLS:C0043208 {source="ORDO:75233/e", source="Orphanet:75233", source="NCIT:C61271", source="DOID:14497", source="MONDO:equivalentTo"} xref: UMLS:CN438428 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002561 {source="MESH:D015223/inferred", source="MONDO:Redundant", source="NCIT:C61271", source="Orphanet:75233/inferred", source="linkedlifedata"} ! lysosomal storage disease -is_a: MONDO:0010204 {source="Orphanet:75233", source="linkedlife"} ! lysosomal acid lipase deficiency -is_a: MONDO:0019245 {source="PMID:21502308"} ! lysosomal lipid storage disorder +is_a: MONDO:0002561 {source="DOID:14497/inferred", source="MESH:D015223/inferred", source="MONDO:Redundant", source="NCIT:C61271", source="Orphanet:75233/inferred", source="linkedlifedata"} ! lysosomal storage disease +is_a: MONDO:0010204 {source="DOID:14497", source="Orphanet:75233", source="linkedlifedata"} ! lysosomal acid lipase deficiency +is_a: MONDO:0019245 {source="DOID:14497/inferred", source="MESH:D015223/inferred", source="Orphanet:75233/inferred", source="PMID:21502308"} ! lysosomal lipid storage disorder property_value: confidence "3.6875" xsd:double [Term] @@ -354691,7 +360068,7 @@ xref: OMIM:278000 {source="Orphanet:75234", source="MONDO:subClassOf", source="O xref: Orphanet:75234 {source="MONDO:equivalentTo"} xref: SCTID:57218003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:14502", source="MONDO:equivalentTo"} xref: UMLS:C0008384 {source="Orphanet:75234", source="DOID:14502", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0010204 {source="Orphanet:75234", source="linkedlifedata"} ! lysosomal acid lipase deficiency +is_a: MONDO:0010204 {source="DOID:14502", source="Orphanet:75234", source="linkedlifedata"} ! lysosomal acid lipase deficiency property_value: confidence "3.6875" xsd:double [Term] @@ -354721,7 +360098,7 @@ xref: Orphanet:75378 {source="MONDO:equivalentTo"} xref: SCTID:722066001 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C4302876 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} xref: UMLS:CN205696 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0019118 {source="Orphanet:75378", source="linkedlifedata"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:75378", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy [Term] id: MONDO:0019152 @@ -354740,7 +360117,7 @@ xref: OMIM:613411 {source="ORDO:75382/btnt", source="Orphanet:75382", source="MO xref: Orphanet:75382 {source="MONDO:equivalentTo"} xref: UMLS:C1306122 {source="Orphanet:75382", source="ORDO:75382/e"} is_a: MONDO:0016293 ! congenital stationary night blindness -is_a: MONDO:0019118 {source="Orphanet:75382"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:75382"} ! inherited retinal dystrophy relationship: disease_has_feature HP:0030824 ! Mizuo phenomenon property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10118/oguchi-disease xsd:anyURI {source="GARD:0010118"} @@ -354807,7 +360184,7 @@ xref: SCTID:368851000119102 {source="DOID:4674", source="MONDO:superClassOf"} xref: SCTID:52832001 {source="DOID:4674"} xref: UMLS:C0039585 {source="NCIT:C27226", source="OMIM:300068", source="NCBI:mim2gene_medline", source="DOID:4674", source="ORDO:754/e", source="MONDO:equivalentTo", source="Orphanet:754"} xref: UMLS:C0936016 {source="DOID:4674", source="ORDO:754/e", source="Orphanet:754"} -is_a: MONDO:0002145 {source="DOID:4674", source="Orphanet:754/inferred"} ! sex differentiation disease +is_a: MONDO:0002145 {source="DOID:4674", source="MESH:D013734/inferred", source="Orphanet:754/inferred"} ! sex differentiation disease is_a: MONDO:0015511 {source="Orphanet:754", source="Orphanet:754/inferred"} ! rare genetic urogenital disease is_a: MONDO:0015513 {source="MONDO:Entailed", source="Orphanet:754", source="Orphanet:754/inferred"} ! rare genetic endocrine disease is_a: MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:754", source="Orphanet:754/inferred"} ! rare genetic developmental defect during embryogenesis @@ -355074,7 +360451,7 @@ xref: SCTID:65110003 {source="DOID:876", source="MONDO:kboom-pr-0.90/0.76/0.53", xref: UMLS:C0041188 {source="DOID:876", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:764"} xref: UMLS:C1704275 {source="NCIT:C128382", source="ORDO:764/e", source="MONDO:equivalentTo", source="Orphanet:764"} is_a: MONDO:0015575 {source="Orphanet:764"} ! rare bacterial infectious disease -is_a: MONDO:0021167 {source="DOID:876", source="MESH:D052880", source="MONDOLEX:0019168", source="NCIT:C128382", source="linkedlifedata"} ! myositis +is_a: MONDO:0021167 {source="DOID:876", source="MESH:D052880", source="MONDOLEX:0019168", source="NCIT:C128382", source="linkedlifedata", source="linkedlifedata/inferred"} ! myositis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/4614/pyomyositis xsd:anyURI {source="GARD:0004614"} [Term] @@ -355154,7 +360531,7 @@ xref: SCTID:66121003 {source="DOID:9810"} xref: UMLS:C0031036 {source="DOID:9810", source="NCIT:C26847", source="ORDO:767/e", source="Orphanet:767", source="MONDO:equivalentTo"} is_a: MONDO:0016177 {source="Orphanet:767"} ! systemic inflammatory disease associated with an acquired peripheral neuropathy is_a: MONDO:0019724 {source="Orphanet:767"} ! secondary glomerular disease -is_a: MONDO:0043494 {source="NCIT:C26847"} ! arteritis +is_a: MONDO:0043494 {source="MESH:D010488", source="NCIT:C26847", source="linkedlifedata/inferred"} ! arteritis [Term] id: MONDO:0019171 @@ -355213,7 +360590,7 @@ xref: SCTID:204161008 {source="DOID:12271"} xref: SCTID:69278003 {source="MONDO:kboom-pr-1.00/0.80/9.55", source="DOID:12271", source="MONDO:equivalentTo"} xref: UMLS:C0003076 {source="ORDO:77/e", source="NCIT:C84563", source="DOID:12271", source="Orphanet:77", source="MONDO:equivalentTo"} xref: UMLS:C2931795 {source="ORDO:77/e", source="Orphanet:77"} -is_a: MONDO:0002289 {source="DOID:12271", source="MESH:D015783"} ! iris disease +is_a: MONDO:0002289 {source="DOID:12271", source="MESH:D015783", source="linkedlifedata/inferred"} ! iris disease is_a: MONDO:0020146 {source="Orphanet:77"} ! major induction processes eye anomaly property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5816/aniridia xsd:anyURI {source="GARD:0005816"} @@ -355241,7 +360618,7 @@ xref: SCTID:186644005 {source="DOID:11260"} xref: SCTID:187393002 {source="DOID:11260"} xref: SCTID:275370001 {source="DOID:11260"} xref: UMLS:C0034494 {source="ORDO:770/e", source="Orphanet:770", source="DOID:11260", source="NCIT:C28182", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="MESH:D011818/inferred", source="MONDO:Redundant", source="NCIT:C28182", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:11260", source="MESH:D011818/inferred", source="MONDO:Redundant", source="NCIT:C28182", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease is_a: MONDO:0015576 {source="MONDO:Entailed", source="Orphanet:770"} ! rare viral disease is_a: MONDO:0020010 {source="Orphanet:770"} ! infectious disease of the nervous system relationship: disease_has_feature HP:0000713 ! Agitation @@ -355278,7 +360655,7 @@ xref: Orphanet:772 {source="MONDO:equivalentTo"} xref: UMLS:C0282527 {source="Orphanet:772", source="ORDO:772/e", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015327 {source="MONDO:Entailed", source="Orphanet:772"} ! developmental anomaly of metabolic origin is_a: MONDO:0016398 {source="Orphanet:772"} ! peroxisomal disease with epilepsy -is_a: MONDO:0019234 {source="Orphanet:772"} ! peroxisome biogenesis disorder +is_a: MONDO:0019234 {source="NCIT:C84789", source="Orphanet:772"} ! peroxisome biogenesis disorder is_a: MONDO:0020044 {source="Orphanet:772"} ! autosomal recessive metabolic cerebellar ataxia is_a: MONDO:0020244 {source="Orphanet:772"} ! unclassified primitive or secondary maculopathy is_a: MONDO:0020281 {source="Orphanet:772"} ! metabolic disease with pigmentary retinitis @@ -355384,7 +360761,7 @@ xref: SCTID:266324004 {source="DOID:1270"} xref: UMLS:C0039445 {source="ORDO:774/e", source="Orphanet:774", source="NCIT:C35064", source="MONDO:equivalentTo", source="DOID:1270"} is_a: MONDO:0000426 {source="DOID:1270"} ! autosomal dominant disease is_a: MONDO:0001576 {source="MESH:D013683", source="NCIT:C35064"} ! telangiectasis -is_a: MONDO:0003847 {source="MONDO:Redundant", source="NCIT:C35064", source="Orphanet:774/inferred", source="linkedlifedata"} ! inherited genetic disease +is_a: MONDO:0003847 {source="DOID:1270/inferred", source="MONDO:Redundant", source="NCIT:C35064", source="Orphanet:774/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0015113 {source="Orphanet:774"} ! rare vascular liver disease is_a: MONDO:0015145 {source="Orphanet:774"} ! neurovascular malformation is_a: MONDO:0015331 {source="Orphanet:774"} ! malformation syndrome with skin/mucosae involvement @@ -355408,6 +360785,7 @@ synonym: "isolated X-linked intellectual disability" RELATED [MONDO:DesignPatter synonym: "mental retardation, nonsyndromic, X-linked" RELATED [OMIMPS:309530] synonym: "mental retardation, X-linked, nonsyndromic" EXACT [MONDO:0000168] synonym: "non-specific X-linked mental retardation" EXACT [DOID:0050776] +synonym: "non-syndromic intellectual disability, X-linked" EXACT [MONDO:design_pattern] synonym: "nonsyndromic X-linked intellectual disability" EXACT [MONDO:DesignPattern] synonym: "X-linked non-specific intellectual disability" EXACT [Orphanet:777] synonym: "X-linked non-syndromic intellectual disability" RELATED [Orphanet:777] @@ -355548,7 +360926,7 @@ xref: SCTID:86012006 {source="DOID:11100"} xref: UMLS:C0034362 {source="ORDO:781/e", source="Orphanet:781", source="NCIT:C34970", source="DOID:11100", source="MONDO:equivalentTo"} xref: UMLS:C2973787 {source="Orphanet:781"} is_a: MONDO:0000314 {source="DOID:11100"} ! primary bacterial infectious disease -is_a: MONDO:0005113 {source="EFO:0005224", source="MESH:D011778/inferred", source="MONDO:Redundant", source="NCIT:C34970", source="linkedlifedata"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="DOID:11100/inferred", source="EFO:0005224", source="MESH:D011778/inferred", source="MONDO:Redundant", source="NCIT:C34970", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0015575 {source="Orphanet:781"} ! rare bacterial infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:777 ! Coxiella burnetii @@ -355633,7 +361011,7 @@ is_a: MONDO:0000426 {source="DOID:1933"} ! autosomal dominant disease is_a: MONDO:0015159 {source="Orphanet:783"} ! multiple congenital anomalies/dysmorphic syndrome-intellectual disability is_a: MONDO:0015162 {source="Orphanet:783"} ! rare syndromic intellectual disability is_a: MONDO:0015218 {source="Orphanet:783"} ! syndromic developmental defect of the eye -is_a: MONDO:0015329 {source="Orphanet:783"} ! malformation syndrome with short stature +is_a: MONDO:0015329 {source="Orphanet:783", source="linkedlifedata/inferred"} ! malformation syndrome with short stature is_a: MONDO:0015945 {source="Orphanet:783"} ! polymalformative genetic syndrome with increased risk of developing cancer is_a: MONDO:0015983 {source="Orphanet:783"} ! rare genetic syndromic intellectual disability is_a: MONDO:0016565 {source="Orphanet:783"} ! syndromic obesity @@ -355664,6 +361042,8 @@ name: juvenile polyposis of infancy def: "Juvenile polyposis of infancy (JPI) is the most severe form of juvenile gastrointestinal polyposis (see this term) and is characterized by pancolonic hamartomatous polyposis from stomach to rectum, diagnosed in the first two years of life." [Orphanet:79076] subset: ordo_clinical_subtype {source="Orphanet:79076"} synonym: "infantile juvenile polyposis syndrome" EXACT [Orphanet:79076] +synonym: "infantile onset juvenile polyposis syndrome" EXACT [MONDO:design_pattern] +synonym: "juvenile polyposis syndrome of infancy" EXACT [MONDO:design_pattern] xref: ICD10:D12.6 {source="ORDO:79076/ntbt", source="Orphanet:79076", source="ORDO:79076/attributed"} xref: OMIM:612242 {source="ORDO:79076/ntbt", source="Orphanet:79076", source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: Orphanet:79076 {source="MONDO:equivalentTo"} @@ -355697,7 +361077,7 @@ xref: SCTID:196478007 {source="DOID:12900"} xref: SCTID:7826003 {source="DOID:12900", source="MONDO:equivalentTo"} xref: UMLS:C0026103 {source="Orphanet:79078", source="DOID:12900", source="ORDO:79078/e", source="NCIT:C34819", source="MONDO:equivalentTo"} is_a: MONDO:0001854 {source="DOID:12900", source="MONDO:Redundant", source="linkedlifedata"} ! lacrimal apparatus disease -is_a: MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C34819"} ! autoimmune disease +is_a: MONDO:0007179 {source="DOID:12900", source="MONDO:Redundant", source="NCIT:C34819"} ! autoimmune disease is_a: MONDO:0017287 {source="Orphanet:79078"} ! IgG4-related disease is_a: MONDO:0020017 {source="Orphanet:79078"} ! rare otorhinolaryngologic disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7043/igg4-related-dacryoadenitis-and-sialadenitis xsd:anyURI {source="GARD:0007043"} @@ -355732,7 +361112,7 @@ xref: Orphanet:79086 {source="MONDO:equivalentTo"} xref: SCTID:86907008 {source="MONDO:kboom-pr-0.88/0.75/0.09", source="MONDO:equivalentTo"} xref: UMLS:C0271693 {source="NCIT:C131089", source="ORDO:79086/e", source="Orphanet:79086", source="MONDO:equivalentTo"} xref: UMLS:C3665770 {source="Orphanet:79086"} -is_a: MONDO:0006573 {source="MONDO:Redundant", source="NCIT:C131089", source="linkedlifedata"} ! lipodystrophy (disease) +is_a: MONDO:0006573 {source="DOID:0080300/inferred", source="MONDO:Redundant", source="NCIT:C131089", source="linkedlifedata"} ! lipodystrophy (disease) is_a: MONDO:0015885 {source="Orphanet:79086"} ! rare insulin-resistance syndrome is_a: MONDO:0020089 {source="MONDO:Entailed", source="Orphanet:79086"} ! acquired lipodystrophy intersection_of: MONDO:0027766 ! generalized lipodystrophy @@ -355829,7 +361209,7 @@ xref: Orphanet:79098 {source="MONDO:equivalentTo"} xref: SCTID:75315001 {source="DOID:12029", source="MONDO:kboom-pr-0.75/0.46/0.17", source="EFO:1001205", source="MONDO:equivalentTo"} xref: UMLS:C0029077 {source="DOID:12029", source="Orphanet:79098", source="ORDO:79098/e", source="MONDO:equivalentTo"} is_a: MONDO:0002977 {source="OWLReasoner:2017"} ! autoimmune disease of the nervous system -is_a: MONDO:0006885 {source="DOID:12029", source="EFO:1001205"} ! panuveitis +is_a: MONDO:0006885 {source="DOID:12029", source="EFO:1001205", source="MESH:D009879"} ! panuveitis is_a: MONDO:0017634 {source="Orphanet:79098"} ! non-infectious anterior uveitis [Term] @@ -355949,7 +361329,7 @@ xref: UMLS:C0035334 {source="NCBI:mim2gene_medline", source="NCIT:C85045", sourc xref: UMLS:C0220701 {source="DOID:10584", source="MONDO:superClassOf"} xref: UMLS:C4072872 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0004580 {source="DOID:10584", source="MESH:D012174/inferred", source="MONDO:Redundant"} ! retinal degeneration -is_a: MONDO:0019118 {source="MESH:D012174", source="Orphanet:791", source="linkedlifedata"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="MESH:D012174", source="Orphanet:791", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy [Term] id: MONDO:0019201 @@ -356023,7 +361403,7 @@ xref: SCTID:35037009 {source="DOID:2800"} xref: SCTID:45157009 {source="DOID:2800"} xref: UMLS:C0085786 {source="Orphanet:79126", source="ORDO:79126/e"} xref: UMLS:C1279945 {source="NCIT:C35806", source="Orphanet:79126", source="ORDO:79126/e", source="DOID:2800", source="MONDO:equivalentTo"} -is_a: MONDO:0002429 {source="MONDO:0019203/inferred", source="MONDO:Redundant", source="MONDOLEX:0019203/inferred", source="NCIT:C35806", source="Orphanet:79126"} ! idiopathic interstitial pneumonia +is_a: MONDO:0002429 {source="DOID:2800", source="MONDO:0019203/inferred", source="MONDO:Redundant", source="MONDOLEX:0019203/inferred", source="NCIT:C35806", source="Orphanet:79126"} ! idiopathic interstitial pneumonia is_a: MONDO:0008345 {source="MONDOLEX:0019203"} ! idiopathic pulmonary fibrosis property_value: confidence "0.5823588235294124" xsd:double @@ -356113,9 +361493,9 @@ xref: SCTID:266194002 {source="DOID:10844"} xref: SCTID:52947006 {source="DOID:10844", source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.74/6.36"} xref: UMLS:C0014057 {source="ORDO:79139/e", source="DOID:10844", source="Orphanet:79139", source="MONDO:equivalentTo"} is_a: MONDO:0005156 {source="EFO:0007332", source="MONDO:Redundant"} ! encephalomyelitis -is_a: MONDO:0006009 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-21", source="Orphanet:79139", source="linkedlifedata"} ! viral encephalitis +is_a: MONDO:0006009 {source="MONDO:Entailed", source="NCIT:C34577/inferred", source="OWLReasoner:Elk-2018-01-21", source="Orphanet:79139", source="linkedlifedata"} ! viral encephalitis is_a: MONDO:0015659 {source="Orphanet:79139"} ! infectious disease with epilepsy -is_a: MONDO:0020067 {source="MESH:D004672/inferred", source="MONDO:Redundant", source="Orphanet:79139", source="linkedlifedata"} ! infectious encephalitis +is_a: MONDO:0020067 {source="MESH:D004672/inferred", source="MONDO:Redundant", source="NCIT:C34577/inferred", source="Orphanet:79139", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious encephalitis relationship: disease_has_feature HP:0001259 ! Coma relationship: disease_has_feature HP:0001289 ! Confusion relationship: disease_has_feature HP:0002013 {source="Wikidata"} ! Vomiting @@ -356158,7 +361538,7 @@ xref: ONCOTREE:MCC {source="MONDO:equivalentTo"} xref: Orphanet:79140 {source="MONDO:equivalentTo"} xref: SCTID:253001006 {source="MONDO:kboom-pr-1.00/0.91/28.68", source="MONDO:equivalentTo"} xref: UMLS:C0007129 {source="NCIT:C9231", source="MEDGEN:kboom-pr98-c99", source="Orphanet:79140", source="MONDO:equivalentTo"} -is_a: MONDO:0002120 {source="MONDO:Entailed", source="MONDOLEX:0019210", source="NCIT:C9231", source="OWLReasoner:2017"} ! neuroendocrine carcinoma +is_a: MONDO:0002120 {source="MESH:D015266", source="MONDO:Entailed", source="MONDOLEX:0019210", source="NCIT:C9231", source="OWLReasoner:2017"} ! neuroendocrine carcinoma is_a: MONDO:0002656 {source="MONDO:Entailed", source="MONDOLEX:0019210", source="NCIT:C9231"} ! skin carcinoma is_a: MONDO:0003363 {source="MONDO:Entailed", source="NCIT:C9231"} ! malignant dermis tumor is_a: MONDO:0015081 {source="Orphanet:79140"} ! neuroendocrine tumor with other location @@ -356213,6 +361593,8 @@ id: MONDO:0019213 name: cerebral organic aciduria def: "A inherited organic acidemia that involves the brain." [MONDO:patterns/location] subset: ordo_group_of_disorders {source="Orphanet:79158"} +synonym: "brain inherited organic acidemia" EXACT [MONDO:design_pattern] +synonym: "inherited organic acidemia of brain" EXACT [MONDO:design_pattern] xref: Orphanet:79158 {source="MONDO:equivalentTo"} is_a: MONDO:0000688 {source="Orphanet:79158"} ! inherited organic acidemia intersection_of: MONDO:0000688 ! inherited organic acidemia @@ -356240,7 +361622,7 @@ xref: Orphanet:79161 {source="MONDO:equivalentTo"} xref: UMLS:C0007001 {source="DOID:2978"} xref: UMLS:C0029777 {source="DOID:2978"} xref: UMLS:C0149670 {source="ORDO:79161/e", source="Orphanet:79161"} -is_a: MONDO:0019052 {source="MESH:D002239", source="MONDO:Entailed", source="Orphanet:79161"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:2978", source="MESH:D002239", source="MONDO:Entailed", source="Orphanet:79161"} ! inborn errors of metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0005975 ! carbohydrate metabolic process @@ -356263,7 +361645,7 @@ xref: ICD9:270.0 {source="i2s", source="MONDO:equivalentTo"} xref: Orphanet:79166 {source="MONDO:equivalentTo"} xref: SCTID:16784003 {source="MONDO:equivalentTo"} xref: UMLS:C0268641 {source="Orphanet:79166", source="ORDO:79166/e", source="MONDO:equivalentTo"} -is_a: MONDO:0019189 {source="Orphanet:79166", source="linkedlife"} ! inborn disorder of amino acid and other organic acid metabolism +is_a: MONDO:0019189 {source="Orphanet:79166", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism [Term] id: MONDO:0019217 @@ -356333,7 +361715,7 @@ xref: ICD10:E72.1 {source="ORDO:79173/ntbt", source="ORDO:79173/attributed", sou xref: ICD9:270.4 {source="i2s"} xref: Orphanet:79173 {source="MONDO:equivalentTo"} xref: SCTID:28882002 {source="MONDO:equivalentTo"} -is_a: MONDO:0019189 {source="Orphanet:79173", source="SCTID:28882002"} ! inborn disorder of amino acid and other organic acid metabolism +is_a: MONDO:0019189 {source="Orphanet:79173", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0000096 ! sulfur amino acid metabolic process @@ -356412,6 +361794,7 @@ def: "An acquired metabolic disease that is has its basis in the disruption of h subset: ordo_group_of_disorders {source="Orphanet:79181"} synonym: "disorder of histidine metabolism" BROAD [Orphanet:79181] synonym: "disturbances of histidine metabolism" EXACT [DOID:9265] +synonym: "histidine metabolism disease" RELATED [DOID:9265] synonym: "inborn error of histidine metabolic process" EXACT [MONDO:patterns/inborn_metabolic] synonym: "inborn error of histidine metabolism" EXACT [MONDO:patterns/inborn_metabolic] xref: DOID:9265 {source="MONDO:equivalentTo"} @@ -356515,7 +361898,7 @@ xref: UMLS:C1832200 {source="Orphanet:79189", source="ORDO:79189/e"} is_a: MONDO:0002254 {source="MONDOLEX:0019234", source="NCIT:C85239"} ! syndromic disease is_a: MONDO:0015115 {source="Orphanet:79189"} ! rare metabolic liver disease is_a: MONDO:0016133 {source="Orphanet:79189"} ! rare hereditary metabolic disease with peripheral neuropathy -is_a: MONDO:0019046 {source="Orphanet:79189", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy +is_a: MONDO:0019046 {source="NCIT:C146639", source="Orphanet:79189", source="https://rarediseases.org/rare-diseases/leukodystrophy/"} ! leukodystrophy is_a: MONDO:0019053 {source="Orphanet:79189"} ! peroxisomal disease is_a: MONDO:0019058 {source="Orphanet:79189"} ! neurometabolic disease is_a: MONDO:0024237 {source="OWLReasoner:Elk-2018-03-06"} ! inherited neurodegenerative disorder @@ -356614,7 +361997,7 @@ xref: ICD10:E72.8 {source="ORDO:79196/inclusion", source="ORDO:79196/ntbt", sour xref: Orphanet:79196 {source="MONDO:equivalentTo"} xref: SCTID:9128006 {source="MONDO:equivalentTo"} xref: UMLS:C0268517 {source="ORDO:79196/e", source="Orphanet:79196", source="MONDO:equivalentTo"} -is_a: MONDO:0019189 {source="Orphanet:79196", source="linkedlife"} ! inborn disorder of amino acid and other organic acid metabolism +is_a: MONDO:0019189 {source="Orphanet:79196", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism [Term] id: MONDO:0019242 @@ -356633,7 +362016,7 @@ xref: ICD10:E71.2 {source="ORDO:79197/specific", source="Orphanet:79197", source xref: Orphanet:79197 {source="MONDO:equivalentTo"} xref: SCTID:116020001 {source="MONDO:equivalentTo"} xref: UMLS:C0342712 {source="Orphanet:79197", source="ORDO:79197/e", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0019189 {source="Orphanet:79197", source="linkedlife"} ! inborn disorder of amino acid and other organic acid metabolism +is_a: MONDO:0019189 {source="Orphanet:79197", source="linkedlifedata"} ! inborn disorder of amino acid and other organic acid metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0009081 ! branched-chain amino acid metabolic process @@ -356667,6 +362050,7 @@ synonym: "inborn lipid storage disorder" EXACT [CSP2005:1849-5707, DOID:9455] synonym: "lipid storage disease" EXACT [DOID:9455] synonym: "lipidoses" RELATED [] synonym: "lipidosis" RELATED [] +synonym: "Lipoid storage diseas" EXACT [DOID:9455] synonym: "lipoid storage disease" EXACT [] synonym: "lipoid storage disorder" EXACT [] synonym: "lipoidoses" RELATED [] @@ -356691,7 +362075,7 @@ xref: SCTID:267438000 {source="DOID:9455"} xref: UMLS:C0023794 {source="DOID:9455"} xref: UMLS:C0029591 {source="DOID:9455"} is_a: MONDO:0002525 ! inherited lipid metabolism disorder -is_a: MONDO:0002561 {source="DOID:9455", source="Orphanet:79204/inferred", source="linkedlife"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="DOID:9455", source="Orphanet:79204/inferred", source="linkedlifedata"} ! lysosomal storage disease intersection_of: MONDO:0019052 {source="PMID:21502308"} ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0019915 {source="PMID:21502308"} ! lipid storage relationship: disease_disrupts GO:0016042 {source="PMID:21502308"} ! lipid catabolic process @@ -356758,7 +362142,7 @@ xref: SCTID:267452003 {source="DOID:12798"} xref: UMLS:C0026703 {source="ORDO:79213/e", source="Orphanet:79213", source="NCIT:C61259", source="DOID:12798", source="MONDO:equivalentTo"} is_a: MONDO:0002561 {source="DOID:12798", source="MESH:D009083", source="NCIT:C61259", source="Orphanet:79213", source="linkedlifedata"} ! lysosomal storage disease is_a: MONDO:0015327 {source="Orphanet:79213"} ! developmental anomaly of metabolic origin -is_a: MONDO:0019214 {source="NCIT:C61259"} ! inborn carbohydrate metabolic disorder +is_a: MONDO:0019214 {source="MESH:D009083", source="NCIT:C61259"} ! inborn carbohydrate metabolic disorder is_a: MONDO:0020222 {source="Orphanet:79213"} ! rare disease with glaucoma as a major feature relationship: disease_has_basis_in_disruption_of GO:1903510 ! mucopolysaccharide metabolic process property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7065/mucopolysaccharidosis xsd:anyURI {source="GARD:0007065"} @@ -356823,7 +362207,7 @@ xref: SCTID:191109006 {source="DOID:653"} xref: SCTID:267450006 {source="DOID:653"} xref: UMLS:C0029595 {source="DOID:653"} xref: UMLS:C0034139 {source="ORDO:79224/e", source="Orphanet:79224", source="MONDO:equivalentTo"} -is_a: MONDO:0019052 {source="MESH:D011686", source="MONDO:Entailed", source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:79224"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="DOID:653", source="MESH:D011686", source="MONDO:Entailed", source="MONDO:Redundant", source="OWLReasoner:2017", source="Orphanet:79224"} ! inborn errors of metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_disrupts GO:0009117 ! nucleotide metabolic process relationship: disease_has_basis_in_disruption_of GO:0009117 ! nucleotide metabolic process @@ -356931,6 +362315,7 @@ synonym: "CLN4 disease, adult autosomal dominant" RELATED [GARD:0010973] synonym: "Kuf's disease" RELATED [GARD:0010973] synonym: "Kufs disease" EXACT [Orphanet:79262] synonym: "neuronal ceroid lipofuscinosis 4" RELATED [GARD:0010973] +synonym: "neuronal ceroid lipofuscinosis of adults" EXACT [MONDO:design_pattern] xref: GARD:0010973 {source="MONDO:equivalentTo"} xref: ICD10:E75.4 {source="ORDO:79262/attributed", source="ORDO:79262/ntbt", source="MONDO:subClassOf", source="Orphanet:79262"} xref: MESH:C537950 {source="ORDO:79262/e", source="Orphanet:79262"} @@ -356999,7 +362384,7 @@ xref: OMIM:610127 {source="ORDO:79264/btnt", source="Orphanet:79264", source="MO xref: Orphanet:79264 {source="MONDO:equivalentTo"} xref: SCTID:61663001 {source="MONDO:kboom-pr-0.89/0.75/0.42", source="MONDO:equivalentTo"} xref: UMLS:C0751383 {source="Orphanet:79264"} -is_a: MONDO:0002561 {source="PMID:21723623"} ! lysosomal storage disease +is_a: MONDO:0002561 {source="Orphanet:79264/inferred", source="PMID:21723623", source="linkedlifedata/inferred"} ! lysosomal storage disease is_a: MONDO:0016295 {source="DOID:0050756", source="Orphanet:79264", source="linkedlifedata"} ! neuronal ceroid lipofuscinosis is_a: MONDO:0020074 {source="Orphanet:79264"} ! progressive myoclonic epilepsy is_a: MONDO:0020143 {source="Orphanet:79264", source="linkedlifedata"} ! cerebral lipidosis with dementia @@ -357278,6 +362663,8 @@ id: MONDO:0019283 name: nail anomaly def: "A epidermal appendage anomaly that involves the nail." [MONDO:patterns/location] subset: ordo_group_of_disorders {source="Orphanet:79368"} +synonym: "epidermal appendage anomaly of nail" EXACT [MONDO:design_pattern] +synonym: "nail epidermal appendage anomaly" EXACT [MONDO:design_pattern] xref: MedDRA:10028684 {source="ORDO:79368/e", source="Orphanet:79368"} xref: Orphanet:79368 {source="MONDO:equivalentTo"} xref: UMLS:C0265997 {source="Orphanet:79368"} @@ -357320,6 +362707,7 @@ id: MONDO:0019286 name: sebaceous gland anomaly def: "A epidermal appendage anomaly that involves the sebaceous gland." [MONDO:patterns/location] subset: ordo_group_of_disorders {source="Orphanet:79372"} +synonym: "epidermal appendage anomaly of sebaceous gland" EXACT [MONDO:design_pattern] synonym: "sebaceous gland epidermal appendage anomaly" EXACT [MONDO:patterns/location] xref: Orphanet:79372 {source="MONDO:equivalentTo"} is_a: MONDO:0019277 {source="MONDO:Entailed", source="Orphanet:79372"} ! epidermal appendage anomaly @@ -357352,8 +362740,12 @@ relationship: disease_has_basis_in_development_of UBERON:0000924 ! ectoderm [Term] id: MONDO:0019288 name: skin pigmentation disease +def: "A pigmentation disease that involves the zone of skin." [MONDO:design_pattern] subset: ordo_group_of_disorders {source="Orphanet:79374"} synonym: "pigmentation anomaly of the skin" EXACT [] +synonym: "pigmentation disease" RELATED [DOID:10123] +synonym: "pigmentation disease of zone of skin" EXACT [MONDO:design_pattern] +synonym: "zone of skin pigmentation disease" EXACT [MONDO:design_pattern] xref: DOID:10123 {source="EFO:1000755", source="MONDO:equivalentTo"} xref: EFO:1000755 {source="MONDO:equivalentTo"} xref: ICD9:709.09 {source="DOID:10123"} @@ -357441,8 +362833,8 @@ xref: SCTID:11263005 {source="DOID:9540", source="MONDO:equivalentTo"} xref: SCTID:201306008 {source="DOID:9540"} xref: SCTID:267820009 {source="DOID:9540"} xref: UMLS:C0162819 {source="ORDO:79379/e", source="Orphanet:79379", source="MEDGEN:kboom-pr98-c99", source="DOID:9540", source="MONDO:equivalentTo"} -is_a: MONDO:0005093 {source="DOID:9540", source="MONDO:Redundant", source="linkedlife"} ! skin disease -is_a: MONDO:0005385 {source="linkedlife"} ! vascular disease +is_a: MONDO:0005093 {source="DOID:9540", source="MESH:D017445", source="MONDO:Redundant", source="NCIT:C35254", source="linkedlifedata"} ! skin disease +is_a: MONDO:0005385 {source="NCIT:C35254", source="linkedlifedata"} ! vascular disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: MONDO:0005093 ! skin disease intersection_of: disease_has_location UBERON:0002049 ! vasculature @@ -358194,13 +363586,21 @@ intersection_of: disease_has_feature HP:0008066 ! Abnormal blistering of the ski id: MONDO:0019338 name: sarcoidosis def: "Sarcoidosis is a multisystemic disorder of unknown cause characterized by the formation of immune granulomas in involved organs." [Orphanet:797] -comment: Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; TODO - check type of hypersensitivity disease +comment: Editor note: ORDO makes this a type of cardiomyopathy but this would render the subclass cardiac sarcoidosis equivalent; same with neurogenic sarcoidosis. TODO - check type of hypersensitivity disease subset: ordo_disease {source="Orphanet:797"} +synonym: "benign lymphogranulomatosis of Schaumann" RELATED [SCTID:31541009] synonym: "Besnier-Boeck-Schaumann disease" EXACT [Orphanet:797] +synonym: "besnier-boeck-Schaumann syndrome" RELATED [SCTID:31541009] synonym: "Boeck sarcoid" EXACT [DOID:11335, Orphanet:797] synonym: "Boeck's sarcoid" EXACT [Orphanet:797] +synonym: "boeck's sarcoid" RELATED [SCTID:31541009] +synonym: "boeck's sarcoidosis" RELATED [SCTID:31541009] +synonym: "darier-Roussy sarcoid" RELATED [SCTID:31541009] +synonym: "lupus pernio of besnier" RELATED [SCTID:31541009] synonym: "lymphogranulomatosis" EXACT [CSP2005:2024-3715, DOID:11335] +synonym: "miliary lupoid of boeck" RELATED [SCTID:31541009] synonym: "sarcoid" EXACT [NCIT:C34995] +synonym: "sarcoidosis" EXACT [SCTID:31541009] xref: COHD:438688 {source="MONDO:equivalentTo"} xref: DOID:11335 {source="MONDO:equivalentTo"} xref: ICD10:D80-D89 {source="DOID:11335"} @@ -358211,7 +363611,7 @@ xref: ICD10:D86.2 {source="ORDO:797/btnt", source="Orphanet:797"} xref: ICD10:D86.3 {source="ORDO:797/btnt", source="MONDO:superClassOf", source="Orphanet:797"} xref: ICD10:D86.8 {source="ORDO:797/btnt", source="Orphanet:797"} xref: ICD10:D86.9 {source="ORDO:797/btnt", source="DOID:11335", source="Orphanet:797"} -xref: ICD9:135 {source="MONDO:superClassOf", source="DOID:11335"} +xref: ICD9:135 {source="linkedlifedata", source="MONDO:superClassOf", source="DOID:11335"} xref: MedDRA:10039486 {source="ORDO:797/e", source="Orphanet:797"} xref: MESH:D012507 {source="ORDO:797/e", source="MONDO:equivalentTo", source="DOID:11335", source="Orphanet:797"} xref: NCIT:C34995 {source="MONDO:kboom-pr-0.89/0.70/0.88", source="MONDO:equivalentTo", source="DOID:11335"} @@ -358220,20 +363620,20 @@ xref: OMIM:612387 {source="ORDO:797/btnt", source="MONDO:superClassOf", source=" xref: OMIM:612388 {source="ORDO:797/btnt", source="MONDO:superClassOf", source="DOID:11335", source="Orphanet:797"} xref: Orphanet:797 {source="MONDO:equivalentTo", source="DOID:11335"} xref: SCTID:154425004 {source="DOID:11335"} -xref: SCTID:31541009 {source="MONDO:superClassOf", source="DOID:11335"} +xref: SCTID:31541009 {source="MONDO:equivalentTo", source="MONDO:superClassOf", source="DOID:11335"} xref: UMLS:C0036202 {source="ORDO:797/e", source="NCIT:C34995", source="MONDO:equivalentTo", source="DOID:11335", source="Orphanet:797"} -is_a: MONDO:0015657 {source="Orphanet:797"} ! inflammatory and autoimmune disease with epilepsy is_a: MONDO:0015938 {source="Orphanet:797"} ! systemic disease -is_a: MONDO:0016177 {source="Orphanet:797"} ! systemic inflammatory disease associated with an acquired peripheral neuropathy -is_a: MONDO:0017259 {source="Orphanet:797"} ! systemic diseases with anterior uveitis -is_a: MONDO:0017260 {source="Orphanet:797"} ! systemic diseases with posterior uveitis -is_a: MONDO:0017261 {source="Orphanet:797"} ! systemic diseases with panuveitis is_a: MONDO:0017955 {source="Orphanet:797"} ! granulomatous autoinflammatory syndrome -is_a: MONDO:0019724 {source="Orphanet:797"} ! secondary glomerular disease -is_a: MONDO:0019843 {source="Orphanet:797"} ! pituitary hormone deficiency secondary to a granulomatous disease relationship: excluded_subClassOf MONDO:0002459 {source="DOID:11335"} ! type IV hypersensitivity disease relationship: excluded_subClassOf MONDO:0007179 {source="NCIT:C34995"} ! autoimmune disease +relationship: excluded_subClassOf MONDO:0015657 {source="Orphanet:797"} ! inflammatory and autoimmune disease with epilepsy +relationship: excluded_subClassOf MONDO:0016177 {source="Orphanet:797"} ! systemic inflammatory disease associated with an acquired peripheral neuropathy relationship: excluded_subClassOf MONDO:0016345 {source="Orphanet:797"} ! non-familial restrictive cardiomyopathy +relationship: excluded_subClassOf MONDO:0017259 {source="Orphanet:797"} ! systemic diseases with anterior uveitis +relationship: excluded_subClassOf MONDO:0017260 {source="Orphanet:797"} ! systemic diseases with posterior uveitis +relationship: excluded_subClassOf MONDO:0017261 {source="Orphanet:797"} ! systemic diseases with panuveitis +relationship: excluded_subClassOf MONDO:0019724 {source="Orphanet:797"} ! secondary glomerular disease +relationship: excluded_subClassOf MONDO:0019843 {source="Orphanet:797"} ! pituitary hormone deficiency secondary to a granulomatous disease [Term] id: MONDO:0019339 @@ -358289,7 +363689,7 @@ xref: SCTID:89155008 {source="DOID:419", source="MONDO:superClassOf"} xref: UMLS:C0011644 {source="DOID:419", source="ORDO:801/e", source="Orphanet:801", source="NCIT:C26746"} xref: UMLS:C0852007 {source="Orphanet:801"} is_a: MONDO:0005554 {source="DOID:419", source="NCIT:C26746"} ! rheumatologic disorder -is_a: MONDO:0007179 {source="MONDO:Redundant", source="NCIT:C26746"} ! autoimmune disease +is_a: MONDO:0007179 {source="DOID:419/inferred", source="MONDO:Redundant", source="NCIT:C26746"} ! autoimmune disease is_a: MONDO:0017368 {source="Orphanet:801"} ! systemic disease with skin involvement relationship: disease_has_feature HP:0100324 ! Scleroderma @@ -358417,7 +363817,7 @@ xref: ICD9:004.0 {source="DOID:12385"} xref: ICD9:004.1 {source="DOID:12385"} xref: ICD9:004.2 {source="DOID:12385"} xref: ICD9:004.3 {source="DOID:12385"} -xref: ICD9:004.9 {source="linkedlife", source="DOID:12385"} +xref: ICD9:004.9 {source="linkedlifedata", source="DOID:12385"} xref: KEGG:05131 {source="DOID:12385", source="MONDO:equivalentTo"} xref: MedDRA:10017915 {source="ORDO:810/e", source="Orphanet:810"} xref: MedDRA:10054178 {source="ORDO:810/e", source="Orphanet:810"} @@ -358440,8 +363840,8 @@ xref: UMLS:C0302359 {source="DOID:12385"} xref: UMLS:C0302360 {source="DOID:12385"} xref: UMLS:C0302361 {source="DOID:12385"} is_a: MONDO:0000314 {source="DOID:12385"} ! primary bacterial infectious disease -is_a: MONDO:0001517 {source="EFO:0005585", source="linkedlife"} ! dysentery -is_a: MONDO:0005113 {source="EFO:0005585", source="MESH:D004405/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! bacterial infectious disease +is_a: MONDO:0001517 {source="EFO:0005585", source="MESH:D004405", source="linkedlifedata", source="linkedlifedata/inferred"} ! dysentery +is_a: MONDO:0005113 {source="DOID:12385/inferred", source="EFO:0005585", source="MESH:D004405/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0015575 {source="MONDO:Entailed", source="Orphanet:810"} ! rare bacterial infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:620 ! Shigella @@ -358474,7 +363874,7 @@ xref: UMLS:C0023806 {source="MEDGEN:kboom-pr87-c94", source="ORDO:812/e", source xref: UMLS:C0268226 {source="Orphanet:812"} xref: UMLS:C1850510 {source="Orphanet:812"} xref: UMLS:CN206021 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0017734 {source="Orphanet:812", source="linkedlife"} ! sialidosis +is_a: MONDO:0017734 {source="Orphanet:812", source="linkedlifedata"} ! sialidosis is_a: MONDO:0019058 {source="Orphanet:812"} ! neurometabolic disease is_a: MONDO:0020282 {source="Orphanet:812"} ! metabolic disease with macular cherry-red spot property_value: confidence "3.3578947368421064" xsd:double @@ -358656,7 +364056,7 @@ xref: Orphanet:827 {source="MONDO:equivalentTo"} xref: SCTID:47673003 {source="MONDO:kboom-pr-0.89/0.78/0.09", source="MONDO:equivalentTo"} xref: UMLS:C0271093 {source="ORDO:827/e", source="NCIT:C85078", source="Orphanet:827", source="MONDO:equivalentTo"} xref: UMLS:C1855465 {source="Orphanet:827", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003004 {source="MONDO:Redundant", source="NCIT:C85078"} ! macular degeneration +is_a: MONDO:0003004 {source="DOID:0050817/inferred", source="MONDO:Redundant", source="NCIT:C85078", source="linkedlifedata"} ! macular degeneration is_a: MONDO:0005150 {source="DOID:0050817"} ! age-related macular degeneration is_a: MONDO:0016420 {source="Orphanet:827"} ! familial flecked retinopathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/181/stargardt-disease xsd:anyURI {source="GARD:0000181"} @@ -358727,7 +364127,7 @@ xref: SCTID:68190001 {source="MONDO:kboom-pr-0.92/0.83/0.21", source="MONDO:equi xref: UMLS:C0043195 {source="ORDO:829/e", source="Orphanet:829", source="MONDO:relatedTo"} xref: UMLS:C0085253 {source="ORDO:829/e", source="Orphanet:829", source="DOID:14256", source="MEDGEN:kboom-pr95-c96", source="MONDO:equivalentTo"} xref: UMLS:CN206037 {source="MEDGEN:kboom-pr96-c96", source="MONDO:equivalentTo"} -is_a: MONDO:0005578 {source="DOID:14256", source="EFO:0007135", source="MESH:D016706/inferred", source="linkedlifedata"} ! arthritis +is_a: MONDO:0005578 {source="DOID:14256", source="EFO:0007135", source="MESH:D016706/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! arthritis is_a: MONDO:0015940 {source="Orphanet:829"} ! rare rheumatologic disease is_a: MONDO:0019724 {source="Orphanet:829"} ! secondary glomerular disease is_a: MONDO:0019751 {source="PMID:23827249"} ! autoinflammatory syndrome @@ -358802,7 +364202,7 @@ xref: Orphanet:83311 {source="MONDO:equivalentTo"} xref: SCTID:186772009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0035793 {source="ORDO:83311/e", source="Orphanet:83311", source="NCIT:C128410", source="MONDO:equivalentTo"} is_a: MONDO:0001195 {source="DOID:0050052", source="MONDOLEX:0019359", source="Orphanet:83311", source="linkedlifedata"} ! spotted fever -is_a: MONDO:0006956 {source="MESH:D012373", source="MONDO:Redundant", source="NCIT:C128410", source="Orphanet:83311/inferred", source="linkedlifedata"} ! rickettsiosis +is_a: MONDO:0006956 {source="MESH:D012373", source="MONDO:Redundant", source="NCIT:C128410", source="Orphanet:83311/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! rickettsiosis relationship: realized_in_response_to_stimulus NCBITaxon:783 ! Rickettsia rickettsii relationship: transmitted_by NCBITaxon:34620 ! Dermacentor andersoni relationship: transmitted_by NCBITaxon:34621 ! Dermacentor variabilis @@ -358851,7 +364251,7 @@ xref: NCIT:C84689 {source="MONDO:equivalentTo"} xref: Orphanet:83314 {source="MONDO:equivalentTo"} xref: UMLS:C0041473 {source="Orphanet:83314", source="ORDO:83314/e", source="NCIT:C84689"} is_a: MONDO:0001246 {source="DOID:0050480", source="MONDO:Entailed", source="MONDOLEX:0019362"} ! typhus -is_a: MONDO:0005113 {source="MONDO:Redundant", source="NCIT:C84689"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="DOID:0050480/inferred", source="MONDO:Redundant", source="NCIT:C84689"} ! bacterial infectious disease is_a: MONDO:0015156 {source="Orphanet:83314"} ! typhus-group rickettsiosis intersection_of: MONDO:0001246 ! typhus intersection_of: realized_in_response_to_stimulus NCBITaxon:782 ! Rickettsia prowazekii @@ -359018,7 +364418,7 @@ xref: Orphanet:83465 {source="MONDO:equivalentTo"} xref: SCTID:91521000119104 {source="EFO:0005855", source="MONDO:kboom-pr-0.89/0.75/0.29", source="MONDO:equivalentTo"} xref: UMLS:C1456240 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} xref: UMLS:CN206062 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003406 {source="ICD10:G47.419", source="MONDO:Redundant"} ! sleep-wake disorder +is_a: MONDO:0003406 {source="EFO:0005855", source="ICD10:G47.419", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! sleep-wake disorder is_a: MONDO:0019045 {source="Orphanet:83465"} ! rare sleep disorder is_a: MONDO:0021107 {source="linkedlifedata"} ! narcolepsy relationship: disease_has_location UBERON:0000955 {source="EFO:0000784"} ! brain @@ -359142,10 +364542,10 @@ xref: Orphanet:83476 {source="MONDO:equivalentTo"} xref: SCTID:392662004 {source="DOID:2365", source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.92/0.83/0.07"} xref: UMLS:C0043124 {source="Orphanet:83476"} xref: UMLS:C0751583 {source="Orphanet:83476", source="DOID:2365"} -is_a: MONDO:0005108 {source="DOID:2365", source="EFO:0007545", source="MONDO:Redundant", source="linkedlifedata"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:2365", source="EFO:0007545", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease is_a: MONDO:0006009 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-21", source="Orphanet:83476", source="linkedlifedata"} ! viral encephalitis is_a: MONDO:0015659 {source="Orphanet:83476"} ! infectious disease with epilepsy -is_a: MONDO:0020067 {source="MONDO:Redundant", source="Orphanet:83476", source="linkedlifedata"} ! infectious encephalitis +is_a: MONDO:0020067 {source="MONDO:Redundant", source="Orphanet:83476", source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious encephalitis intersection_of: MONDO:0020067 ! infectious encephalitis intersection_of: realized_in_response_to_stimulus NCBITaxon:11082 ! West Nile virus relationship: disease_has_feature HP:0001259 ! Coma @@ -359304,7 +364704,7 @@ xref: UMLS:C0014040 {source="Orphanet:83600", source="NCIT:C26761", source="DOID is_a: MONDO:0006009 {source="NCIT:C26761", source="linkedlifedata"} ! viral encephalitis is_a: MONDO:0015659 {source="Orphanet:83600"} ! infectious disease with epilepsy is_a: MONDO:0017635 {source="Orphanet:83600"} ! rare parkinsonian syndrome due to neurodegenerative disease -is_a: MONDO:0019956 {source="DOID:5225", source="MONDO:Redundant", source="NCIT:C26761/inferred", source="Orphanet:83600/inferred", source="linkedlife/inferred"} ! encephalitis +is_a: MONDO:0019956 {source="DOID:5225", source="MONDO:Redundant", source="NCIT:C26761/inferred", source="Orphanet:83600/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! encephalitis is_a: MONDO:0020068 {source="Orphanet:83600"} ! postinfectious encephalitis [Term] @@ -359324,9 +364724,9 @@ xref: MESH:C535841 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: NCIT:C122414 {source="MONDO:equivalentTo"} xref: Orphanet:83601 {source="MONDO:equivalentTo"} xref: UMLS:C0393639 {source="Orphanet:83601", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0007179 {source="NCIT:C122414"} ! autoimmune disease +is_a: MONDO:0007179 {source="MESH:C535841/inferred", source="NCIT:C122414"} ! autoimmune disease is_a: MONDO:0016593 {source="Orphanet:83601"} ! acquired ataxia -is_a: MONDO:0019956 {source="NCIT:C122414", source="Orphanet:83601/inferred"} ! encephalitis +is_a: MONDO:0019956 {source="MESH:C535841", source="NCIT:C122414", source="Orphanet:83601/inferred"} ! encephalitis is_a: MONDO:0020068 {source="Orphanet:83601"} ! postinfectious encephalitis is_a: MONDO:0100029 {source="http://orcid.org/0000-0001-8486-0558"} ! antibody mediated epilepsy @@ -359613,7 +365013,7 @@ xref: Orphanet:84271 {source="MONDO:equivalentTo"} xref: SCTID:717191005 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C4274017 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0018170 {source="Orphanet:84271"} ! idiopathic nephrotic syndrome -is_a: MONDO:0044765 ! steroid-resistant nephrotic syndrome +is_a: MONDO:0044765 {source="linkedlifedata/inferred"} ! steroid-resistant nephrotic syndrome [Term] id: MONDO:0019402 @@ -359773,7 +365173,7 @@ xref: Orphanet:85193 {source="OMIM:259750", source="MONDO:equivalentTo"} xref: SCTID:3345002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:12559", source="MONDO:equivalentTo"} xref: UMLS:C0158447 {source="DOID:12559"} xref: UMLS:C0264080 {source="NCBI:mim2gene_medline", source="OMIM:259750", source="Orphanet:85193"} -is_a: MONDO:0005298 {source="DC-OMIM:259750", source="DOID:12559", source="MESH:C537700", source="linkedlifedata"} ! osteoporosis +is_a: MONDO:0005298 {source="DC-OMIM:259750", source="DOID:12559", source="MESH:C537700", source="NCIT:C119996", source="linkedlifedata"} ! osteoporosis is_a: MONDO:0015940 {source="Orphanet:85193"} ! rare rheumatologic disease is_a: MONDO:0019704 {source="Orphanet:85193"} ! primary bone dysplasia with decreased bone density property_value: confidence "0.9375000000000002" xsd:double @@ -360073,7 +365473,7 @@ xref: NCIT:C119032 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equiv xref: Orphanet:85410 {source="MONDO:equivalentTo"} xref: UMLS:C2931171 {source="Orphanet:85410", source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} xref: UMLS:C3898105 {source="MEDGEN:kboom-pr99-c99", source="NCIT:C119032", source="MONDO:equivalentTo"} -is_a: MONDO:0011429 {source="MESH:C536312", source="Orphanet:85410"} ! juvenile idiopathic arthritis +is_a: MONDO:0011429 {source="MESH:C536312", source="NCIT:C119032", source="Orphanet:85410"} ! juvenile idiopathic arthritis is_a: MONDO:0017259 {source="Orphanet:85410"} ! systemic diseases with anterior uveitis [Term] @@ -360099,7 +365499,7 @@ xref: Orphanet:85414 {source="MONDO:equivalentTo"} xref: SCTID:201796004 {source="MONDO:kboom-pr-1.00/0.78/7.02", source="MONDO:equivalentTo"} xref: UMLS:C0087031 {source="Orphanet:85414"} xref: UMLS:C1384600 {source="Orphanet:85414"} -is_a: MONDO:0011429 {source="Orphanet:85414", source="linkedlifedata"} ! juvenile idiopathic arthritis +is_a: MONDO:0011429 {source="NCIT:C119031", source="Orphanet:85414", source="linkedlifedata"} ! juvenile idiopathic arthritis is_a: MONDO:0019751 {source="PMID:23827249"} ! autoinflammatory syndrome property_value: confidence "0.33333333333333326" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10966/systemic-onset-juvenile-idiopathic-arthritis xsd:anyURI {source="GARD:0010966"} @@ -360157,7 +365557,7 @@ xref: NCIT:C119024 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equiv xref: Orphanet:85438 {source="MONDO:equivalentTo"} xref: SCTID:410801005 {source="MONDO:kboom-pr-0.74/0.37/0.49", source="MONDO:equivalentTo"} xref: UMLS:C3495919 {source="Orphanet:85438", source="NCIT:C119024"} -is_a: MONDO:0005578 {source="MONDO:Redundant", source="MONDOLEX:0019437", source="NCIT:C119024", source="linkedlifedata"} ! arthritis +is_a: MONDO:0005578 {source="MONDO:Redundant", source="MONDOLEX:0019437", source="NCIT:C119024", source="linkedlifedata", source="linkedlifedata/inferred"} ! arthritis is_a: MONDO:0011429 {source="Orphanet:85438", source="linkedlifedata"} ! juvenile idiopathic arthritis is_a: MONDO:0017259 {source="Orphanet:85438"} ! systemic diseases with anterior uveitis relationship: disease_has_feature MONDO:0024419 ! enthesitis @@ -360215,7 +365615,7 @@ xref: UMLS:C0221014 {source="Orphanet:85445", source="ORDO:85445/e", source="MON xref: UMLS:C3536715 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0016179 {source="Orphanet:85445"} ! acquired amyloid peripheral neuropathy is_a: MONDO:0016345 {source="Orphanet:85445"} ! non-familial restrictive cardiomyopathy -is_a: MONDO:0019065 {source="NCIT:C3818", source="Orphanet:85445", source="linkedlifedata"} ! amyloidosis (disease) +is_a: MONDO:0019065 {source="NCIT:C3818", source="Orphanet:85445", source="linkedlifedata", source="linkedlifedata/inferred"} ! amyloidosis (disease) is_a: MONDO:0019724 {source="Orphanet:85445"} ! secondary glomerular disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10560/amyloidosis-aa xsd:anyURI {source="GARD:0010560"} @@ -360422,7 +365822,7 @@ xref: Orphanet:86829 {source="MONDO:equivalentTo"} xref: SCTID:188734009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0023481 {source="Orphanet:86829", source="NCIT:C3179", source="MONDO:equivalentTo", source="ORDO:86829/e"} xref: UMLS:C0474856 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001014 {source="DOID:0080187", source="NCIT:C3179", source="linkedlifedata"} ! chronic leukemia +is_a: MONDO:0001014 {source="DOID:0080187", source="NCIT:C3179", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic leukemia is_a: MONDO:0020076 {source="MONDO:Redundant", source="NCIT:C3179", source="ONCOTREE:CNL", source="OWLReasoner:2017", source="Orphanet:86829"} ! myeloproliferative neoplasm property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10585/chronic-neutrophilic-leukemia xsd:anyURI {source="GARD:0010585"} @@ -360557,7 +365957,7 @@ xref: OMIM:601626 {source="MONDO:subClassOf", source="MONDO:superClassOf", sourc xref: Orphanet:86846 {source="MONDO:equivalentTo"} xref: SCTID:721306009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C1292776 {source="ORDO:86846/e", source="Orphanet:86846"} -is_a: MONDO:0018874 {source="MONDOLEX:0019457", source="Orphanet:86846", source="linkedlifedata"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="MONDOLEX:0019457", source="NCIT:C25765", source="Orphanet:86846", source="linkedlifedata"} ! acute myeloid leukemia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12762/therapy-related-acute-myeloid-leukemia-and-myelodysplastic-syndrome xsd:anyURI {source="GARD:0012762"} [Term] @@ -360826,7 +366226,7 @@ xref: UMLS:C2363142 {source="ORDO:86871/e", source="Orphanet:86871", source="NCI is_a: MONDO:0001023 {source="MESH:D015461", source="MONDOLEX:0019468", source="NCIT:C4752", source="linkedlifedata"} ! prolymphocytic leukemia is_a: MONDO:0005169 {source="NCIT:C4752"} ! neoplasm of mature T-cells or NK-cells is_a: MONDO:0005525 {source="MESH:D015461", source="MONDO:Entailed", source="OWLReasoner:2017"} ! T-cell leukemia -is_a: MONDO:0015760 {source="Orphanet:86871", source="linkedlifedata"} ! T-cell non-Hodgkin lymphoma +is_a: MONDO:0015760 {source="Orphanet:86871", source="linkedlifedata", source="linkedlifedata/inferred"} ! T-cell non-Hodgkin lymphoma relationship: disease_has_location CL:0000084 {source="EFO:0000784"} ! T cell [Term] @@ -360870,12 +366270,12 @@ xref: SCTID:277569004 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:eq xref: UMLS:C1522378 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C1955861 {source="ORDO:86872/e", source="Orphanet:86872", source="NCIT:C4664", source="MONDO:equivalentTo"} xref: UMLS:C2930809 {source="Orphanet:86872"} -is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C4664", source="linkedlifedata"} ! chronic leukemia -is_a: MONDO:0004948 {source="DOID:0050751"} ! B-cell chronic lymphocytic leukemia +is_a: MONDO:0001014 {source="MONDO:Redundant", source="NCIT:C4664", source="linkedlifedata", source="linkedlifedata/inferred"} ! chronic leukemia is_a: MONDO:0005169 {source="NCIT:C4664"} ! neoplasm of mature T-cells or NK-cells is_a: MONDO:0005402 {source="MONDO:Redundant", source="NCIT:C4664"} ! lymphoid leukemia (disease) is_a: MONDO:0015760 {source="Orphanet:86872", source="Orphanet:86872/inferred"} ! T-cell non-Hodgkin lymphoma is_a: MONDO:0015822 {source="Orphanet:86872"} ! acquired neutropenia +relationship: excluded_subClassOf MONDO:0004948 {source="DOID:0050751"} ! B-cell chronic lymphocytic leukemia [Term] id: MONDO:0019470 @@ -360938,6 +366338,7 @@ synonym: "adult T-cell lymphoma/leukemia" RELATED [NCIT:C3184] synonym: "ATLL" EXACT [Orphanet:86875] synonym: "HTLV-1 associated adult T-cell lymphoma/leukemia" RELATED [NCIT:C3184] synonym: "HTLV-I associated adult T-cell leukemia/lymphoma" RELATED [NCIT:C3184] +synonym: "T-cell leukemia of adults" EXACT [MONDO:design_pattern] xref: DOID:0050523 {source="MONDO:equivalentTo"} xref: GARD:0013103 {source="Orphanet-shared", source="MONDO:equivalentTo"} xref: ICD10:C91.5 {source="Orphanet:86875", source="ORDO:86875/ntbt", source="DOID:0050523"} @@ -360954,7 +366355,7 @@ xref: SCTID:188729005 {source="DOID:0050523"} xref: SCTID:77430005 {source="DOID:0050523"} xref: UMLS:C0023493 {source="ORDO:86875/e", source="Orphanet:86875", source="NCIT:C3184", source="DOID:0050523", source="MONDO:equivalentTo"} is_a: MONDO:0005525 {source="DOID:0050523"} ! T-cell leukemia -is_a: MONDO:0015760 {source="MONDO:Redundant", source="NCIT:C3184/inferred", source="Orphanet:86875", source="Orphanet:86875/inferred", source="linkedlife/inferred"} ! T-cell non-Hodgkin lymphoma +is_a: MONDO:0015760 {source="MONDO:Redundant", source="NCIT:C3184/inferred", source="Orphanet:86875", source="Orphanet:86875/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! T-cell non-Hodgkin lymphoma is_a: MONDO:0015817 {source="Orphanet:86875"} ! aggressive primary cutaneous T-cell lymphoma is_a: MONDO:0017341 {source="Orphanet:86875"} ! rare virus associated tumor intersection_of: MONDO:0005525 ! T-cell leukemia @@ -361015,7 +366416,7 @@ xref: ONCOTREE:EATL {source="MONDO:equivalentTo"} xref: Orphanet:86880 {source="MONDO:equivalentTo"} xref: SCTID:277654008 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0456889 {source="ORDO:86880/e", source="NCIT:C4737", source="Orphanet:86880", source="MONDO:equivalentTo"} -is_a: MONDO:0015760 {source="MONDOLEX:0019473", source="NCIT:C4737/inferred", source="Orphanet:86880", source="linkedlifedata"} ! T-cell non-Hodgkin lymphoma +is_a: MONDO:0015760 {source="MESH:D058527", source="MONDOLEX:0019473", source="NCIT:C4737/inferred", source="Orphanet:86880", source="linkedlifedata", source="linkedlifedata/inferred"} ! T-cell non-Hodgkin lymphoma relationship: excluded_subClassOf MONDO:0018505 {source="MONDO:Redundant", source="Orphanet:86880"} ! rare tumor of small intestine property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9809/enteropathy-associated-t-cell-lymphoma xsd:anyURI {source="GARD:0009809"} @@ -361061,7 +366462,7 @@ xref: ONCOTREE:SPTCL {source="MONDO:equivalentTo"} xref: Orphanet:86884 {source="MONDO:equivalentTo"} xref: SCTID:404133000 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="MONDO:equivalentTo"} xref: UMLS:C0522624 {source="Orphanet:86884", source="NCIT:C6918", source="MONDO:equivalentTo"} -is_a: MONDO:0005062 {source="EFO:1000552", source="MESH:C537503/inferred", source="MONDO:Redundant", source="NCIT:C6918/inferred", source="Orphanet:86884/inferred", source="linkedlifedata"} ! lymphoma +is_a: MONDO:0005062 {source="EFO:1000552", source="MESH:C537503/inferred", source="MONDO:Redundant", source="NCIT:C6918/inferred", source="Orphanet:86884/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymphoma is_a: MONDO:0015816 {source="Orphanet:86884"} ! indolent primary cutaneous T-cell lymphoma relationship: disease_has_location CL:0000084 {source="EFO:0000784"} ! T cell @@ -361141,7 +366542,7 @@ xref: Orphanet:86897 {source="MONDO:equivalentTo"} xref: SCTID:128814006 {source="DOID:7146"} xref: UMLS:C1260327 {source="NCIT:C6921", source="DOID:7146", source="ORDO:86897/e", source="Orphanet:86897", source="MONDO:equivalentTo"} is_a: MONDO:0004380 {source="DOID:7146", source="MONDO:Entailed"} ! dendritic cell sarcoma -is_a: MONDO:0006247 {source="MONDO:Redundant", source="NCIT:C6921", source="Orphanet:86897/inferred"} ! histiocytic and dendritic cell neoplasm +is_a: MONDO:0006247 {source="DOID:7146/inferred", source="MONDO:Redundant", source="NCIT:C6921", source="Orphanet:86897/inferred"} ! histiocytic and dendritic cell neoplasm is_a: MONDO:0020082 {source="Orphanet:86897"} ! dendritic cell tumor intersection_of: MONDO:0005089 ! sarcoma intersection_of: disease_has_location CL:0000453 ! Langerhans cell @@ -361378,8 +366779,8 @@ xref: GARD:0006410 {source="MONDO:equivalentTo"} xref: ICD10:H90.5 {source="ORDO:87884/e", source="Orphanet:87884", source="ORDO:87884/specific"} xref: MESH:C580334 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: Orphanet:87884 {source="MONDO:equivalentTo"} -is_a: MONDO:0002409 {source="DOID:0050563", source="MONDO:Redundant", source="Orphanet:87884/inferred"} ! auditory system disease -is_a: MONDO:0005365 {source="MESH:C580334/inferred", source="MONDO:Redundant", source="OWLReasoner:2017"} ! hearing loss +is_a: MONDO:0002409 {source="DOID:0050563", source="EFO:0009076/inferred", source="MONDO:Redundant", source="Orphanet:87884/inferred"} ! auditory system disease +is_a: MONDO:0005365 {source="EFO:0009076/inferred", source="MESH:C580334/inferred", source="MONDO:Redundant", source="OWLReasoner:2017"} ! hearing loss is_a: MONDO:0019047 {source="MONDO:Entailed", source="Orphanet:87884"} ! rare deafness intersection_of: MONDO:0005365 ! hearing loss intersection_of: has_modifier MONDO:0021128 ! has an isolated presentation @@ -361805,6 +367206,7 @@ subset: ordo_group_of_disorders {source="Orphanet:88991"} synonym: "congenital heart malformation" EXACT [MONDO:0005472] synonym: "congenital non-syndromic heart malformation" RELATED [Orphanet:88991] synonym: "disorder of heart development" RELATED [MONDO:patterns/basis_in_disruption_of_process] +synonym: "heart development disease" EXACT [MONDO:design_pattern] synonym: "rare congenital non-syndromic heart malformation" RELATED [Orphanet:88991] xref: EFO:0005269 {source="MONDO:equivalentTo"} xref: OMIM:306955 {source="MONDO:superClassOf", source="EFO:0005269"} @@ -361847,7 +367249,7 @@ xref: NCIT:C26793 {source="MONDO:kboom-pr-0.89/0.76/0.10", source="MONDO:equival xref: Orphanet:890 {source="MONDO:equivalentTo"} xref: SCTID:65617004 {source="MONDO:kboom-pr-1.00/0.81/10.53", source="MONDO:equivalentTo"} xref: UMLS:C0019156 {source="NCIT:C26793", source="Orphanet:890", source="ORDO:890/e", source="MONDO:equivalentTo"} -is_a: MONDO:0002405 {source="DOID:0080177", source="NCIT:C26793", source="linkedlifedata"} ! hepatic vascular disease +is_a: MONDO:0002405 {source="DOID:0080177", source="NCIT:C26793", source="linkedlifedata", source="linkedlifedata/inferred"} ! hepatic vascular disease is_a: MONDO:0015113 {source="Orphanet:890"} ! rare vascular liver disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/13004/hepatic-veno-occlusive-disease xsd:anyURI {source="GARD:0013004"} @@ -362071,7 +367473,7 @@ is_a: MONDO:0018132 {source="Orphanet:899"} ! congenital muscular alpha-dystrogl is_a: MONDO:0018286 {source="Orphanet:899"} ! non-X-linked congenital disorder of glycosylation with intellectual disability as a major feature is_a: MONDO:0018287 {source="Orphanet:899"} ! congenital disorder of glycosylation with epilepsy as a major feature is_a: MONDO:0018296 {source="Orphanet:899"} ! congenital disorder of glycosylation with developmental anomaly -is_a: MONDO:0020121 {source="MESH:D058494", source="MONDO:Redundant", source="NCIT:C99109", source="Orphanet:899/inferred", source="linkedlifedata"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:0050560/inferred", source="MESH:D058494", source="MONDO:Redundant", source="NCIT:C99109", source="Orphanet:899/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy is_a: MONDO:0020247 {source="Orphanet:899"} ! congenital vitreoretinal dysplasia property_value: confidence "0.5294117647058822" xsd:double @@ -362091,7 +367493,7 @@ xref: Orphanet:89938 {source="MONDO:equivalentTo"} xref: SCTID:700112007 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C3838860 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:CN206343 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015231 {source="MONDOLEX:0019524", source="Orphanet:89938", source="linkedlifedata"} ! Bartter syndrome +is_a: MONDO:0015231 {source="MONDOLEX:0019524", source="Orphanet:89938", source="linkedlifedata", source="linkedlifedata/inferred"} ! Bartter syndrome is_a: MONDO:0019589 {source="Orphanet:89938"} ! syndromic genetic deafness [Term] @@ -362261,7 +367663,7 @@ xref: ICD10:D59.1 {source="ORDO:90036/ntbt", source="Orphanet:90036"} xref: Orphanet:90036 {source="MONDO:equivalentTo"} xref: SCTID:718716008 {source="MONDO:kboom-pr-0.77/0.38/0.76", source="MONDO:equivalentTo"} xref: UMLS:C4305257 {source="MONDO:equivalentTo"} -is_a: MONDO:0020108 {source="MONDOLEX:0019534", source="Orphanet:90036", source="linkedlifedata"} ! autoimmune hemolytic anemia +is_a: MONDO:0020108 {source="MONDOLEX:0019534", source="Orphanet:90036", source="linkedlifedata", source="linkedlifedata/inferred"} ! autoimmune hemolytic anemia [Term] id: MONDO:0019535 @@ -362317,7 +367719,7 @@ xref: Orphanet:90039 {source="MONDO:equivalentTo"} xref: SCTID:66729008 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:5378", source="MONDO:equivalentTo"} xref: UMLS:C0272080 {source="DOID:5378", source="NCIT:C35344", source="ORDO:90039/e", source="Orphanet:90039", source="MONDO:equivalentTo"} is_a: MONDO:0015972 {source="Orphanet:90039", source="Orphanet:90039/inferred"} ! rare constitutional anemia -is_a: MONDO:0019050 {source="DOID:5378", source="NCIT:C35344", source="Orphanet:90039", source="linkedlifedata"} ! inherited hemoglobinopathy +is_a: MONDO:0019050 {source="DOID:5378", source="NCIT:C35344", source="Orphanet:90039", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy [Term] id: MONDO:0019538 @@ -362720,10 +368122,10 @@ xref: SCTID:62382002 {source="DOID:0060218"} xref: UMLS:C0206138 {source="DOID:0060218", source="ORDO:90290/e", source="NCIT:C70646", source="MONDO:equivalentTo", source="Orphanet:90290"} xref: UMLS:C1527226 {source="DOID:0060218"} is_a: MONDO:0002254 {source="DOID:0060218", source="MONDOLEX:0019563", source="NCIT:C70646"} ! syndromic disease -is_a: MONDO:0005100 {source="MESH:D017675/inferred", source="Orphanet:90290", source="linkedlife/inferred"} ! systemic sclerosis -is_a: MONDO:0006832 {source="MESH:D017675", source="linkedlife/inferred"} ! limited scleroderma +is_a: MONDO:0005100 {source="MESH:D017675/inferred", source="Orphanet:90290", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! systemic sclerosis +is_a: MONDO:0006832 {source="MESH:D017675", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! limited scleroderma is_a: MONDO:0016177 {source="Orphanet:90290"} ! systemic inflammatory disease associated with an acquired peripheral neuropathy -is_a: MONDO:0016358 {source="Orphanet-textdef", source="linkedlife"} ! limited cutaneous systemic sclerosis +is_a: MONDO:0016358 {source="Orphanet-textdef", source="linkedlifedata"} ! limited cutaneous systemic sclerosis property_value: BOAD "lSSc" xsd:string {xref="NCIT:C70646"} [Term] @@ -362767,10 +368169,10 @@ xref: SCTID:154819009 {source="DOID:12531"} xref: SCTID:234446004 {source="MONDO:equivalentTo"} xref: UMLS:C0042974 {source="ORDO:903/e", source="NCIT:C68677", source="Orphanet:903", source="DOID:12531", source="MONDO:equivalentTo"} is_a: MONDO:0000009 {source="OWLReasoner:2017"} ! inherited bleeding disorder, platelet-type -is_a: MONDO:0001531 {source="NCIT:C68677", source="linkedlife/inferred"} ! blood coagulation disease -is_a: MONDO:0003847 {source="MONDO:Redundant", source="Orphanet:903/inferred", source="linkedlife"} ! inherited genetic disease +is_a: MONDO:0001531 {source="DOID:12531/inferred", source="MESH:C531844/inferred", source="NCIT:C68677", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! blood coagulation disease +is_a: MONDO:0003847 {source="MESH:C531844/inferred", source="MONDO:Redundant", source="Orphanet:903/inferred", source="linkedlifedata"} ! inherited genetic disease is_a: MONDO:0019039 {source="Orphanet:903"} ! rare hemorrhagic disorder due to a constitutional coagulation factors defect -is_a: MONDO:0024574 {source="MONDO:Entailed", source="linkedlife"} ! von Willebrand disease (hereditary or acquired) +is_a: MONDO:0024574 {source="MESH:C531844", source="MONDO:Entailed", source="linkedlifedata"} ! von Willebrand disease (hereditary or acquired) intersection_of: MONDO:0024574 ! von Willebrand disease (hereditary or acquired) intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -362801,8 +368203,8 @@ xref: NCIT:C125696 {source="MONDO:equivalentTo"} xref: Orphanet:90309 {source="MONDO:equivalentTo"} xref: SCTID:83470009 {source="DOID:14720", source="MONDO:equivalentTo"} xref: UMLS:C0268335 {source="Orphanet:90309", source="ORDO:90309/e", source="NCIT:C125696", source="DOID:14720", source="MONDO:equivalentTo"} -is_a: MONDO:0007522 {source="MONDOLEX:0019567", source="Orphanet:90309"} ! Ehlers-Danlos syndrome, classic type -is_a: MONDO:0020066 {source="MESH:C536194", source="MONDO:0019567/inferred", source="MONDO:Redundant", source="MONDOLEX:0019567/inferred", source="NCIT:C125696", source="Orphanet:90309/inferred"} ! Ehlers-Danlos syndrome +is_a: MONDO:0007522 {source="MONDOLEX:0019567", source="Orphanet:90309", source="linkedlifedata"} ! Ehlers-Danlos syndrome, classic type +is_a: MONDO:0020066 {source="DOID:14720", source="MESH:C536194", source="MONDO:0019567/inferred", source="MONDO:Redundant", source="MONDOLEX:0019567/inferred", source="NCIT:C125696", source="Orphanet:90309/inferred", source="linkedlifedata/inferred"} ! Ehlers-Danlos syndrome property_value: confidence "3.3306690738754696E-15" xsd:double [Term] @@ -362826,6 +368228,7 @@ def: "Cockayne syndrome caused by mutation(s) in the ERCC8 gene, encoding DNA ex subset: ordo_clinical_subtype {source="Orphanet:90321"} synonym: "Cockayne syndrome A" EXACT [MONDO:0008997, MONDO:Lexical, OMIM:216400] synonym: "Cockayne syndrome A; CSA" RELATED [OMIM:216400] +synonym: "Cockayne syndrome caused by mutation in ERCC8" EXACT [MONDO:design_pattern] synonym: "Cockayne syndrome classic form" RELATED [GARD:0001415] synonym: "Cockayne syndrome classical" RELATED [GARD:0001415] synonym: "Cockayne syndrome type A" RELATED [GARD:0001415] @@ -362833,6 +368236,7 @@ synonym: "Cockayne syndrome type a" EXACT [MONDORULE:1, OMIM:216400] synonym: "Cockayne syndrome type I" EXACT [Orphanet:90321] synonym: "Cockayne syndrome type I" RELATED [GARD:0001415] synonym: "CSA" RELATED [MONDO:Lexical, OMIM:216400] +synonym: "ERCC8 Cockayne syndrome" EXACT [MONDO:design_pattern] xref: GARD:0001415 {source="MONDO:equivalentTo"} xref: ICD10:Q87.8 {source="Orphanet:90321", source="ORDO:90321/attributed", source="ORDO:90321/ntbt"} xref: NCIT:C135725 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.89/0.75/0.22"} @@ -362894,7 +368298,7 @@ xref: Orphanet:90348 {source="DOID:0070142", source="MONDO:equivalentTo"} xref: SCTID:111388003 {source="MONDO:kboom-pr-0.75/0.38/0.62", source="MONDO:equivalentTo"} xref: UMLS:C0268350 {source="ORDO:90348/e", source="Orphanet:90348", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease -is_a: MONDO:0016175 {source="DOID:0070142", source="MESH:C562627", source="MONDO:Entailed", source="Orphanet:90348", source="linkedlifedata"} ! cutis laxa +is_a: MONDO:0016175 {source="DOID:0070142", source="MESH:C562627", source="MONDO:Entailed", source="Orphanet:90348", source="linkedlifedata", source="linkedlifedata/inferred"} ! cutis laxa intersection_of: MONDO:0016175 ! cutis laxa intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1639/cutis-laxa-autosomal-dominant xsd:anyURI {source="GARD:0001639"} @@ -362924,7 +368328,7 @@ xref: UMLS:C0268351 {source="DOID:0070144", source="Orphanet:90349"} xref: UMLS:C0432336 {source="ORDO:90349/e", source="DOID:0070144", source="Orphanet:90349"} xref: UMLS:CN206407 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: url:https\://www.ncbi.nlm.nih.gov/pubmed/19401719 {source="DOID:0070144"} -is_a: MONDO:0016175 {source="DOID:0070144", source="Orphanet:90349"} ! cutis laxa +is_a: MONDO:0016175 {source="DOID:0070144", source="Orphanet:90349", source="linkedlifedata/inferred"} ! cutis laxa is_a: MONDO:0016517 {source="MONDO:Redundant", source="Orphanet:90349", source="Orphanet:90349/inferred"} ! rare genetic vascular disease is_a: MONDO:0019293 {source="OWLReasoner:2017"} ! skin vascular disease relationship: has_modifier HP:0000007 ! Autosomal recessive inheritance @@ -363096,6 +368500,7 @@ synonym: "X-linked non-syndromic neurosensory deafness type DFN" EXACT [Orphanet synonym: "X-linked non-syndromic neurosensory hearing loss type DFN" EXACT [Orphanet:90625] synonym: "X-linked non-syndromic sensorineural deafness type DFN" RELATED [Orphanet:90625] synonym: "X-linked non-syndromic sensorineural hearing loss type DFN" EXACT [Orphanet:90625] +synonym: "X-linked nonsyndromic genetic deafness" EXACT [MONDO:design_pattern] xref: DOID:0050566 {source="MONDO:equivalentTo"} xref: GARD:0001715 {source="MONDO:equivalentTo"} xref: ICD10:H90.3 {source="ORDO:90625/attributed", source="ORDO:90625/ntbt", source="Orphanet:90625", source="DOID:0050566"} @@ -363130,6 +368535,7 @@ synonym: "autosomal dominant non-syndromic neurosensory hearing loss type DFNA" synonym: "autosomal dominant non-syndromic sensorineural deafness type DFNA" RELATED [Orphanet:90635] synonym: "autosomal dominant non-syndromic sensorineural hearing loss type DFNA" EXACT [Orphanet:90635] synonym: "autosomal dominant nonsyndromic deafness" EXACT [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss] +synonym: "autosomal dominant nonsyndromic genetic deafness" EXACT [MONDO:design_pattern] synonym: "autosomal dominant nonsyndromic hearing impairment" EXACT DEPRECATED [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss] synonym: "autosomal dominant nonsyndromic hearing loss and deafness" EXACT [https://ghr.nlm.nih.gov/condition/nonsyndromic-hearing-loss] synonym: "deafness, autosomal dominant" RELATED [OMIMPS:124900] @@ -363212,6 +368618,7 @@ synonym: "autosomal recessive isolated neurosensory deafness type DFNB" EXACT [O synonym: "autosomal recessive isolated sensorineural deafness type DFNB" EXACT [Orphanet:90636] synonym: "autosomal recessive non-syndromic neurosensory deafness type DFNB" EXACT [Orphanet:90636] synonym: "autosomal recessive non-syndromic sensorineural deafness type DFNB" RELATED [Orphanet:90636] +synonym: "autosomal recessive nonsyndromic genetic deafness" EXACT [MONDO:design_pattern] synonym: "deafness, autosomal recessive" EXACT [MONDO:0011791, OMIM:607197] synonym: "deafness, neurosensory nonsyndromic recessive, DFN" RELATED [GARD:0001710] synonym: "nonsyndromic deafness, autosomal recessive" EXACT [MONDO:patterns/autosomal_recessive] @@ -363626,7 +369033,7 @@ xref: UMLS:C0043459 {source="ORDO:912/e", source="NCIT:C85239", source="Orphanet is_a: MONDO:0002254 {source="MONDO:0019609/inferred", source="MONDO:Redundant", source="MONDOLEX:0019609/inferred", source="NCIT:C85239"} ! syndromic disease is_a: MONDO:0015327 {source="Orphanet:912"} ! developmental anomaly of metabolic origin is_a: MONDO:0016398 {source="Orphanet:912"} ! peroxisomal disease with epilepsy -is_a: MONDO:0019234 {source="MONDOLEX:0019609", source="Orphanet:912"} ! peroxisome biogenesis disorder +is_a: MONDO:0019234 {source="MONDOLEX:0019609", source="NCIT:C85239", source="Orphanet:912"} ! peroxisome biogenesis disorder is_a: MONDO:0019743 {source="Orphanet:912"} ! nephropathy secondary to a storage or other metabolic disease is_a: MONDO:0020234 {source="Orphanet:912"} ! craniofacial anomaly with cataract is_a: MONDO:0020244 {source="Orphanet:912"} ! unclassified primitive or secondary maculopathy @@ -363667,7 +369074,7 @@ xref: UMLS:C0043515 {source="ORDO:913/e", source="Orphanet:913", source="NCIT:C3 is_a: MONDO:0001126 {source="linkedlifedata"} ! gastric ulcer (disease) is_a: MONDO:0001770 {source="linkedlifedata"} ! gastrin secretion abnormality is_a: MONDO:0002254 {source="DOID:0050782", source="MONDO:0019610/inferred", source="MONDO:Redundant", source="MONDOLEX:0019610/inferred", source="NCIT:C3453/inferred"} ! syndromic disease -is_a: MONDO:0005070 {source="EFO:0007549", source="MESH:D015043/inferred", source="MONDO:Redundant", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="EFO:0007549", source="MESH:D015043/inferred", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) is_a: MONDO:0015063 {source="Orphanet:913"} ! duodenal neuroendocrine tumor, well differentiated, low or intermediate grade is_a: MONDO:0019954 {source="Orphanet:913", source="Orphanet:913/inferred"} ! pancreatic neuroendocrine tumor is_a: MONDO:0021058 {source="MONDOLEX:0019610", source="NCIT:C3453"} ! neoplastic syndrome @@ -363732,6 +369139,8 @@ xref: Orphanet:91348 {source="MONDO:equivalentTo"} xref: SCTID:254960002 {source="MONDO:equivalentTo"} xref: UMLS:C0346304 {source="ORDO:91348/e", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:91348"} is_a: MONDO:0003429 {source="Orphanet:91348"} ! functioning pituitary gland adenoma +intersection_of: MONDO:0003429 ! functioning pituitary gland adenoma +intersection_of: realized_in GO:0032274 ! gonadotropin secretion [Term] id: MONDO:0019613 @@ -363749,6 +369158,7 @@ synonym: "non-functioning adenoma of pituitary" EXACT [NCIT:C4348] synonym: "non-functioning adenoma of pituitary gland" EXACT [NCIT:C4348] synonym: "non-functioning adenoma of the pituitary" EXACT [NCIT:C4348] synonym: "non-functioning adenoma of the pituitary gland" EXACT [NCIT:C4348] +synonym: "Non-Functioning neoplasm of the Pituitary" EXACT [DOID:5715] synonym: "non-functioning pituitary adenoma" EXACT [NCIT:C4348] synonym: "non-functioning pituitary gland adenoma" EXACT [NCIT:C4348] synonym: "non-secretory adenoma of pituitary" EXACT [NCIT:C4348] @@ -363764,11 +369174,11 @@ xref: NCIT:C4348 {source="MONDO:kboom-pr-0.94/0.83/1.02", source="DOID:5715", so xref: Orphanet:91349 {source="MONDO:equivalentTo"} xref: SCTID:254962005 {source="MONDO:kboom-pr-1.00/0.80/9.22", source="DOID:5715", source="MONDO:equivalentTo"} xref: UMLS:C0338078 {source="NCIT:C4348", source="DOID:5715", source="Orphanet:91349"} -is_a: MONDO:0003603 {source="MONDO:Entailed", source="NCIT:C4348"} ! non-functioning pituitary gland neoplasm -is_a: MONDO:0006373 {source="EFO:0008516", source="MONDO:Entailed", source="MONDOLEX:0019613", source="NCIT:C4348", source="Orphanet:91349", source="linkedlifedata"} ! pituitary gland adenoma +is_a: MONDO:0003603 {source="MONDO:Entailed", source="NCIT:C4348", source="linkedlifedata"} ! non-functioning pituitary gland neoplasm +is_a: MONDO:0006373 {source="DOID:5715", source="EFO:0008516", source="MONDO:Entailed", source="MONDOLEX:0019613", source="NCIT:C4348", source="Orphanet:91349", source="linkedlifedata"} ! pituitary gland adenoma intersection_of: MONDO:0004972 ! adenoma -intersection_of: MONDO:0021119 ! non-functioning endocrine neoplasm intersection_of: disease_has_location UBERON:0000007 ! pituitary gland +intersection_of: has_modifier NCIT:C45980 [Term] id: MONDO:0019614 @@ -364102,7 +369512,7 @@ xref: SCTID:48982009 {source="MONDO:kboom-pr-0.90/0.75/0.43", source="DOID:11729 xref: UMLS:C0024198 {source="NCIT:C45161", source="DOID:11729", source="ORDO:91546/e", source="MONDO:equivalentTo", source="Orphanet:91546"} xref: UMLS:C0752235 {source="DOID:11729"} is_a: MONDO:0000314 {source="DOID:11729"} ! primary bacterial infectious disease -is_a: MONDO:0005113 {source="EFO:0008510/inferred", source="MESH:D008193/inferred", source="MONDO:Redundant", source="NCIT:C45161", source="linkedlifedata"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="DOID:11729/inferred", source="EFO:0008510/inferred", source="MESH:D008193/inferred", source="MONDO:Redundant", source="NCIT:C45161", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease is_a: MONDO:0015575 {source="MONDO:Entailed", source="Orphanet:91546"} ! rare bacterial infectious disease is_a: MONDO:0016104 {source="Orphanet:91546"} ! infectious disease with peripheral neuropathy is_a: MONDO:0019519 {source="OWLReasoner:2017"} ! rare skin disease @@ -364206,7 +369616,7 @@ xref: Orphanet:93101 {source="DOID:0080204", source="MONDO:equivalentTo"} xref: SCTID:32659003 {source="MONDO:kboom-pr-1.00/0.80/9.25", source="MONDO:equivalentTo"} xref: UMLS:C0266295 {source="Orphanet:93101"} xref: UMLS:C2608080 {source="Orphanet:93101"} -is_a: MONDO:0005240 {source="DOID:0080204", source="linkedlife/inferred"} ! kidney disease +is_a: MONDO:0005240 {source="DOID:0080204", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! kidney disease is_a: MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:93101", source="Orphanet:93101/inferred"} ! rare genetic developmental defect during embryogenesis is_a: MONDO:0019720 {source="Orphanet:93101"} ! non-syndromic renal or urinary tract malformation is_a: MONDO:0020030 {source="MONDO:Entailed", source="Orphanet:93101", source="Orphanet:93101/inferred"} ! rare genetic renal disease @@ -364292,7 +369702,7 @@ xref: OMIM:600785 {source="ORDO:93160/btnt", source="Orphanet:93160", source="MO xref: Orphanet:93160 {source="MONDO:equivalentTo"} xref: SCTID:72831007 {source="MONDO:kboom-pr-1.00/0.79/8.46", source="MONDO:equivalentTo"} xref: UMLS:C3536983 {source="Orphanet:93160"} -is_a: MONDO:0005520 {source="MONDO:Redundant", source="NCIT:C131077", source="linkedlifedata"} ! rickets (disease) +is_a: MONDO:0005520 {source="MONDO:Redundant", source="NCIT:C131077", source="linkedlifedata", source="linkedlifedata/inferred"} ! rickets (disease) is_a: MONDO:0017323 {source="Orphanet:93160"} ! hypocalcemic rickets is_a: MONDO:0024299 {source="MONDO:cjm", source="MONDOLEX:0019642", source="linkedlifedata"} ! vitamin D-dependent rickets @@ -364828,7 +370238,7 @@ xref: Orphanet:93399 {source="MONDO:equivalentTo"} xref: SCTID:111383007 {source="MONDO:equivalentTo"} xref: UMLS:C0268229 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:CN206605 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0009738 {source="MONDOLEX:0019681", source="Orphanet:93399"} ! sialidosis type 2 +is_a: MONDO:0009738 {source="MONDOLEX:0019681", source="Orphanet:93399", source="linkedlifedata"} ! sialidosis type 2 [Term] id: MONDO:0019682 @@ -365240,7 +370650,7 @@ xref: MESH:C566906 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: OMIMPS:610805 {source="MONDO:cjm", source="DOID:0080205", source="MONDO:equivalentTo"} xref: Orphanet:93545 {source="DOID:0080205", source="MONDO:equivalentTo"} xref: UMLS:C1968949 {source="Orphanet:93545", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002118 {source="DOID:0080205"} ! urinary system disease +is_a: MONDO:0002118 {source="DOID:0080205", source="MESH:C566906/inferred"} ! urinary system disease is_a: MONDO:0019750 {source="Orphanet:93545"} ! rare renal disease is_a: MONDO:0019755 {source="Orphanet:93545"} ! developmental defect during embryogenesis @@ -365280,6 +370690,7 @@ synonym: "disorder of renal glomerulus" RELATED [MONDO:patterns/location_top] synonym: "glomerulopathies" RELATED [GTR:AN0966176] synonym: "glomerulopathy" EXACT [MONDO:patterns/location] synonym: "renal glomerulus disease" EXACT [MONDO:patterns/location] +synonym: "renal glomerulus disease or disorder" EXACT [MONDO:design_pattern] xref: COHD:4059452 {source="MONDO:equivalentTo"} xref: GTR:AN0966176 {source="UMLS:CN580795"} xref: ICD10:N00.N08 {source="MONDO:equivalentTo"} @@ -365288,7 +370699,7 @@ xref: Orphanet:93548 {source="MONDO:equivalentTo"} xref: SCTID:197679002 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0268731 {source="Orphanet:93548"} xref: UMLS:CN580795 {source="MONDO:equivalentTo"} -is_a: MONDO:0005240 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! kidney disease +is_a: MONDO:0005240 {source="MONDO:Redundant", source="NCIT:C120887/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! kidney disease is_a: MONDO:0019750 {source="Orphanet:93548"} ! rare renal disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000074 ! renal glomerulus @@ -365626,7 +371037,7 @@ xref: MESH:C531664 {source="MONDO:equivalentTo"} xref: OMIM:220100 {source="MONDO:subClassOf", source="Orphanet:93612", source="ORDO:93612/ntbt"} xref: Orphanet:93612 {source="MONDO:equivalentTo"} xref: UMLS:C1857388 {source="Orphanet:93612"} -is_a: MONDO:0009067 {source="MONDOLEX:0019745", source="Orphanet:93612"} ! cystinuria (disease) +is_a: MONDO:0009067 {source="MESH:C531664", source="MONDOLEX:0019745", source="Orphanet:93612"} ! cystinuria (disease) property_value: confidence "4.277777777777779" xsd:double [Term] @@ -365750,22 +371161,28 @@ xref: Orphanet:93686 {source="MONDO:equivalentTo", source="DOID:0111152"} xref: UMLS:C1334815 {source="Orphanet:93686", source="ORDO:93686/e", source="MONDO:equivalentTo", source="NCIT:C27855", source="DOID:0111152"} xref: url:https\://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease {source="DOID:0111152"} is_a: MONDO:0015157 {source="MONDO:Redundant", source="MONDO:cjm", source="Orphanet:93686/inferred"} ! human herpesvirus 8-related disorder -is_a: MONDO:0015564 {source="NCIT:C27855", source="Orphanet:93686"} ! Castleman disease +is_a: MONDO:0015564 {source="DOID:0111152", source="NCIT:C27855", source="Orphanet:93686"} ! Castleman disease [Term] id: MONDO:0019755 name: developmental defect during embryogenesis +def: "A disease that has its basis in the disruption of embryonic morphogenesis." [MONDO:design_pattern] subset: ordo_group_of_disorders {source="Orphanet:93890"} synonym: "congenital malformation syndrome" EXACT [] +synonym: "developmental defect during embryogenesis" EXACT [] +synonym: "disorder of embryonic morphogenesis" EXACT [MONDO:design_pattern] +synonym: "embryonic morphogenesis disease" EXACT [MONDO:design_pattern] synonym: "malformation syndrome" EXACT [Orphanet:93890] -xref: ICD9:759.7 {source="linkedlife"} +synonym: "rare developmental defect during embryogenesis" EXACT [Orphanet:93890] +xref: ICD9:759.7 {source="linkedlifedata"} xref: NCIT:C99267 {source="MONDO:equivalentTo"} xref: Orphanet:93890 {source="MONDO:equivalentTo"} xref: SCTID:400038003 {source="MONDO:equivalentTo"} xref: UMLS:C1302790 {source="MEDGEN:kboom-pr92-c94", source="MONDO:equivalentTo"} xref: UMLS:CN206687 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} +is_a: MONDO:0000839 {source="linkedlifedata"} ! congenital abnormality intersection_of: MONDO:0000001 ! disease or disorder -intersection_of: disease_disrupts GO:0048598 ! embryonic morphogenesis +intersection_of: disease_has_basis_in_disruption_of GO:0048598 ! embryonic morphogenesis [Term] id: MONDO:0019756 @@ -366173,7 +371590,7 @@ xref: SCTID:193564003 {source="DOID:1687"} xref: SCTID:232086000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:1687", source="EFO:1001060", source="MONDO:equivalentTo"} xref: SCTID:314785001 {source="DOID:1687"} xref: UMLS:C0017609 {source="ORDO:94058/e", source="DOID:1687", source="Orphanet:94058", source="MONDO:equivalentTo"} -is_a: MONDO:0005041 {source="DOID:1687", source="EFO:1001060", source="MESH:D015355", source="linkedlifedata"} ! glaucoma (disease) +is_a: MONDO:0005041 {source="DOID:1687", source="EFO:1001060", source="MESH:D015355", source="linkedlifedata", source="linkedlifedata/inferred"} ! glaucoma (disease) is_a: MONDO:0015120 {source="Orphanet:94058"} ! rare acquired eye disease [Term] @@ -366253,7 +371670,7 @@ xref: ICD10:M35.8 {source="ORDO:94087/ntbt", source="Orphanet:94087"} xref: Orphanet:94087 {source="MONDO:equivalentTo"} xref: SCTID:238883003 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0406594 {source="ORDO:94087/e", source="Orphanet:94087", source="MONDO:equivalentTo"} -is_a: MONDO:0006591 {source="MONDO:cjm", source="linkedlifedata"} ! panniculitis +is_a: MONDO:0006591 {source="MONDO:cjm", source="linkedlifedata", source="linkedlifedata/inferred"} ! panniculitis is_a: MONDO:0019296 {source="Orphanet:94087"} ! subcutaneous tissue disease [Term] @@ -366364,6 +371781,7 @@ subset: ordo_group_of_disorders {source="Orphanet:946"} synonym: "acrocephalosyndactylia" EXACT [MONDO:0005331, Orphanet:946] synonym: "acrocephalosyndactyly" EXACT [NCIT:C34348] synonym: "ACS" EXACT [Orphanet:946] +synonym: "Apert syndrome" EXACT [DOID:12960] xref: COHD:439134 {source="MONDO:equivalentTo"} xref: DOID:12960 {source="EFO:0004123", source="MONDO:equivalentTo"} xref: EFO:0004123 {source="MONDO:equivalentTo"} @@ -366444,6 +371862,8 @@ id: MONDO:0019800 name: chronic hepatic porphyria def: "Chronic hepatic porphyrias represent a sub-group of porphyrias (see this term). They are characterized by bullous photodermatitis caused by a deficiency of uroporphyrinogen decarboxylase (URO-D; the fifth enzyme in the heme biosynthesis pathway). Chronic hepatic porphyria encompasses two diseases: porphyria cutanea tarda and hepatoerythropoietic porphyria (extremely rare) (see these terms)." [Orphanet:95161] subset: ordo_group_of_disorders {source="Orphanet:95161"} +synonym: "acute hepatic porphyria, chronic" EXACT [MONDO:design_pattern] +synonym: "chronic acute hepatic porphyria" EXACT [MONDO:design_pattern] xref: ICD10:E80.2 {source="ORDO:95161/attributed", source="ORDO:95161/ntbt", source="Orphanet:95161"} xref: Orphanet:95161 {source="MONDO:equivalentTo"} intersection_of: MONDO:0002520 ! acute hepatic porphyria @@ -366500,7 +371920,7 @@ is_a: MONDO:0002300 {source="MONDO:Entailed", source="NCIT:C3926/inferred", sour is_a: MONDO:0003110 {source="DOID:4028", source="NCIT:C3926"} ! skin hemangioma is_a: MONDO:0015948 {source="Orphanet:95429"} ! rare genetic skin vascular disorder is_a: MONDO:0016231 {source="Orphanet:95429"} ! capillary malformation -is_a: MONDO:0019293 {source="Orphanet:95429"} ! skin vascular disease +is_a: MONDO:0019293 {source="NCIT:C3926/inferred", source="Orphanet:95429", source="linkedlifedata/inferred"} ! skin vascular disease is_a: MONDO:0020031 {source="MONDO:Redundant"} ! rare tumor [Term] @@ -366525,7 +371945,7 @@ xref: Orphanet:95430 {source="DOID:0060313", source="MONDO:equivalentTo"} xref: SCTID:95467005 {source="DOID:0060313", source="MONDO:kboom-pr-0.85/0.68/0.11", source="MONDO:equivalentTo"} xref: UMLS:C0392109 {source="Orphanet:95430", source="DOID:0060313", source="ORDO:95430/e"} xref: UMLS:C0948187 {source="NCIT:C98634", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002567 {source="DOID:0060313", source="NCIT:C98634/inferred"} ! tracheal disease +is_a: MONDO:0002567 {source="DOID:0060313", source="NCIT:C98634/inferred", source="linkedlifedata/inferred"} ! tracheal disease is_a: MONDO:0015221 {source="Orphanet:95430"} ! non-syndromic respiratory or mediastinal malformation is_a: MONDO:0015505 {source="Orphanet:95430"} ! tracheal anomaly is_a: MONDO:0015930 {source="Orphanet:95430"} ! respiratory malformation @@ -366561,7 +371981,7 @@ xref: SCTID:13404009 {source="MONDO:kboom-pr-0.92/0.84/0.08", source="DOID:13576 xref: SCTID:237299001 {source="DOID:13576"} xref: UMLS:C2909036 {source="DOID:13576"} xref: UMLS:CN206761 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0001240 {source="DOID:13576"} ! neonatal anemia +is_a: MONDO:0001240 {source="DOID:13576", source="MESH:D005330"} ! neonatal anemia is_a: MONDO:0020006 {source="MONDO:Redundant", source="Orphanet:95431"} ! rare hematologic disease is_a: MONDO:0020008 {source="Orphanet:95431"} ! rare immune disease @@ -366612,7 +372032,7 @@ xref: Orphanet:95448 {source="MONDO:equivalentTo"} xref: SCTID:51442005 {source="MONDO:kboom-pr-1.00/0.79/7.92", source="MONDO:equivalentTo"} xref: UMLS:C0265843 {source="Orphanet:95448", source="NCIT:C98818"} is_a: MONDO:0003803 {source="NCIT:C98818"} ! aortic valve disease -is_a: MONDO:0005453 {source="NCIT:C98818", source="linkedlifedata"} ! congenital heart disease +is_a: MONDO:0005453 {source="NCIT:C98818", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital heart disease is_a: MONDO:0017735 {source="Orphanet:95448"} ! congenital aortic valve stenosis [Term] @@ -367530,7 +372950,7 @@ xref: Orphanet:96102 {source="MONDO:equivalentTo"} xref: SCTID:718689000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C2931728 {source="ORDO:96102/e", source="Orphanet:96102"} xref: UMLS:C2931731 {source="ORDO:96102/e", source="Orphanet:96102"} -is_a: MONDO:0016961 ! partial duplication of the long arm of chromosome 10 +is_a: MONDO:0016961 {source="Orphanet:96102"} ! partial duplication of the long arm of chromosome 10 is_a: MONDO:0020226 {source="Orphanet:96102"} ! chromosomal anomaly with cataract [Term] @@ -368103,52 +373523,47 @@ is_a: MONDO:0020062 {source="Orphanet:96201"} ! chromosome X structural anomaly id: MONDO:0019927 name: growth hormone-producing pituitary gland neoplasm def: "An adenoma or carcinoma of the anterior lobe of the pituitary gland that produces growth hormone." [NCIT:C7911] -subset: ordo_group_of_disorders {source="Orphanet:96256"} -synonym: "Growth hormone producing neoplasm of pituitary" EXACT [NCIT:C7911] -synonym: "Growth hormone producing neoplasm of pituitary gland" EXACT [NCIT:C7911] -synonym: "Growth hormone producing neoplasm of the pituitary" EXACT [NCIT:C7911] -synonym: "Growth hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C7911] -synonym: "Growth hormone producing pituitary gland neoplasm" EXACT [NCIT:C7911] -synonym: "Growth hormone producing pituitary gland tumor" EXACT [NCIT:C7911] -synonym: "Growth hormone producing pituitary neoplasm" EXACT [NCIT:C7911] -synonym: "Growth hormone producing pituitary tumor" EXACT [NCIT:C7911] -synonym: "Growth hormone producing tumor" EXACT [NCIT:C7911] -synonym: "Growth hormone producing tumor of pituitary" EXACT [NCIT:C7911] -synonym: "Growth hormone producing tumor of pituitary gland" EXACT [NCIT:C7911] -synonym: "Growth hormone producing tumor of the pituitary" EXACT [NCIT:C7911] -synonym: "Growth hormone producing tumor of the pituitary gland" EXACT [NCIT:C7911] -synonym: "Growth hormone secreting neoplasm of pituitary" EXACT [NCIT:C7911] -synonym: "Growth hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C7911] -synonym: "Growth hormone secreting neoplasm of the pituitary" EXACT [NCIT:C7911] -synonym: "Growth hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C7911] -synonym: "Growth hormone secreting pituitary gland neoplasm" EXACT [NCIT:C7911] -synonym: "Growth hormone secreting pituitary gland tumor" EXACT [NCIT:C7911] -synonym: "Growth hormone secreting pituitary neoplasm" EXACT [NCIT:C7911] -synonym: "Growth hormone secreting pituitary tumor" EXACT [NCIT:C7911] -synonym: "Growth hormone secreting tumor of pituitary" EXACT [NCIT:C7911] -synonym: "Growth hormone secreting tumor of pituitary gland" EXACT [NCIT:C7911] -synonym: "Growth hormone secreting tumor of the pituitary" EXACT [NCIT:C7911] -synonym: "Growth hormone secreting tumor of the pituitary gland" EXACT [NCIT:C7911] -synonym: "Growth hormone-producing pituitary gland neoplasm" EXACT [NCIT:C7911] +synonym: "growth hormone producing neoplasm of pituitary" EXACT [NCIT:C7911] +synonym: "growth hormone producing neoplasm of pituitary gland" EXACT [NCIT:C7911] +synonym: "growth hormone producing neoplasm of the pituitary" EXACT [NCIT:C7911] +synonym: "growth hormone producing neoplasm of the pituitary gland" EXACT [NCIT:C7911] +synonym: "growth hormone producing pituitary gland neoplasm" EXACT [NCIT:C7911] +synonym: "growth hormone producing pituitary gland tumor" EXACT [NCIT:C7911] +synonym: "growth hormone producing pituitary neoplasm" EXACT [NCIT:C7911] +synonym: "growth hormone producing pituitary tumor" EXACT [NCIT:C7911] +synonym: "growth hormone producing tumor" EXACT [NCIT:C7911] +synonym: "growth hormone producing tumor of pituitary" EXACT [NCIT:C7911] +synonym: "growth hormone producing tumor of pituitary gland" EXACT [NCIT:C7911] +synonym: "growth hormone producing tumor of the pituitary" EXACT [NCIT:C7911] +synonym: "growth hormone producing tumor of the pituitary gland" EXACT [NCIT:C7911] +synonym: "growth hormone secreting neoplasm of pituitary" EXACT [NCIT:C7911] +synonym: "growth hormone secreting neoplasm of pituitary gland" EXACT [NCIT:C7911] +synonym: "growth hormone secreting neoplasm of the pituitary" EXACT [NCIT:C7911] +synonym: "growth hormone secreting neoplasm of the pituitary gland" EXACT [NCIT:C7911] +synonym: "growth hormone secreting pituitary gland neoplasm" EXACT [NCIT:C7911] +synonym: "growth hormone secreting pituitary gland tumor" EXACT [NCIT:C7911] +synonym: "growth hormone secreting pituitary neoplasm" EXACT [NCIT:C7911] +synonym: "growth hormone secreting pituitary tumor" EXACT [NCIT:C7911] +synonym: "growth hormone secreting tumor of pituitary" EXACT [NCIT:C7911] +synonym: "growth hormone secreting tumor of pituitary gland" EXACT [NCIT:C7911] +synonym: "growth hormone secreting tumor of the pituitary" EXACT [NCIT:C7911] +synonym: "growth hormone secreting tumor of the pituitary gland" EXACT [NCIT:C7911] +synonym: "growth hormone-producing pituitary gland neoplasm" EXACT [NCIT:C7911] synonym: "pituitary gland somatotropinoma" EXACT [NCIT:C7911] synonym: "pituitary somatotropinoma" EXACT [NCIT:C7911] -synonym: "somatotropic adenoma" RELATED [Orphanet:96256] synonym: "somatotropinoma" EXACT [NCIT:C7911, Orphanet:96256] synonym: "somatotropinoma of pituitary" EXACT [NCIT:C7911] synonym: "somatotropinoma of pituitary gland" EXACT [NCIT:C7911] synonym: "somatotropinoma of the pituitary" EXACT [NCIT:C7911] synonym: "somatotropinoma of the pituitary gland" EXACT [NCIT:C7911] -xref: ICD10:D35.2 {source="ORDO:96256/nd", source="Orphanet:96256", source="MONDO:relatedTo"} -xref: ICD10:E22.0 {source="ORDO:96256/nd", source="Orphanet:96256"} xref: NCIT:C7911 {source="MONDO:equivalentTo"} -xref: OMIM:102200 {source="ORDO:96256/e", source="Orphanet:96256", source="MONDO:superClassOf"} -xref: Orphanet:96256 {source="MONDO:equivalentTo"} xref: UMLS:C0278864 {source="NCIT:C7911", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -xref: UMLS:C0346302 {source="Orphanet:96256"} -is_a: MONDO:0003429 {source="MONDO:Entailed", source="Orphanet:96256"} ! functioning pituitary gland adenoma -intersection_of: MONDO:0003429 {source="NCIT:C7911"} ! functioning pituitary gland adenoma -intersection_of: disease_arises_from_structure CL:0002312 {source="NCIT:C7911"} ! somatotroph -intersection_of: disease_has_location UBERON:0000007 {source="NCIT:C7911"} ! pituitary gland +is_a: MONDO:0002082 {source="NCIT:C7911/inferred"} ! endocrine gland neoplasm +intersection_of: MONDO:0005070 ! neoplasm (disease) +intersection_of: disease_has_location UBERON:0000007 ! pituitary gland +intersection_of: realized_in GO:0030252 ! growth hormone secretion +relationship: disease_arises_from_structure CL:0002312 {source="NCIT:C7911"} ! somatotroph +relationship: disease_has_location UBERON:0000007 {source="NCIT:C7911"} ! pituitary gland [Term] id: MONDO:0019928 @@ -368273,8 +373688,8 @@ xref: SCTID:154698000 {source="DOID:2449"} xref: SCTID:267480001 {source="DOID:2449"} xref: SCTID:74107003 {source="MONDO:kboom-pr-0.88/0.75/0.11", source="DOID:2449", source="MONDO:equivalentTo"} xref: UMLS:C0001206 {source="NCIT:C84533", source="ORDO:963/e", source="DOID:2449", source="MONDO:equivalentTo", source="Orphanet:963"} -is_a: MONDO:0006793 {source="DOID:2449", source="MESH:D000172", source="linkedlifedata"} ! hyperpituitarism -is_a: MONDO:0007052 ! growth hormone secreting pituitary adenoma +is_a: MONDO:0006793 {source="DOID:2449", source="MESH:D000172", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpituitarism +is_a: MONDO:0007052 ! growth hormone secreting pituitary adenoma 1 is_a: MONDO:0018397 {source="MONDO:Redundant", source="Orphanet:963"} ! rare female infertility due to hypothalamic-pituitary-gonadal axis disorder property_value: confidence "0.3500000000000001" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5725/acromegaly xsd:anyURI {source="GARD:0005725"} @@ -368289,7 +373704,7 @@ xref: MESH:D011123 {source="MONDO:ontobio", source="Orphanet:96321", source="ORD xref: Orphanet:96321 {source="MONDO:equivalentTo"} xref: SCTID:72991005 {source="MONDO:kboom-pr-1.00/0.76/7.65", source="MONDO:equivalentTo"} xref: UMLS:C0032578 {source="Orphanet:96321", source="ORDO:96321/e"} -is_a: MONDO:0019040 {source="Orphanet:96321", source="linkedlifedata"} ! chromosomal anomaly +is_a: MONDO:0019040 {source="Orphanet:96321", source="linkedlifedata", source="linkedlifedata/inferred"} ! chromosomal anomaly [Term] id: MONDO:0019935 @@ -368357,7 +373772,7 @@ xref: Orphanet:966 {source="MONDO:equivalentTo"} xref: SCTID:721837000 {source="MONDO:kboom-pr-0.78/0.38/0.81", source="MONDO:equivalentTo"} is_a: MONDO:0015161 {source="Orphanet:966"} ! multiple congenital anomalies/dysmorphic syndrome without intellectual disability is_a: MONDO:0015960 {source="MONDO:Entailed", source="Orphanet:966", source="Orphanet:966/inferred"} ! rare genetic developmental defect during embryogenesis -is_a: MONDO:0019280 {source="Orphanet:966", source="linkedlifedata"} ! hypertrichosis (disease) +is_a: MONDO:0019280 {source="Orphanet:966", source="linkedlifedata", source="linkedlifedata/inferred"} ! hypertrichosis (disease) is_a: MONDO:0043008 {source="Orphanet:966"} ! genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability property_value: seeAlso https://rarediseases.info.nih.gov/diseases/502/acromegaloid-hypertrichosis-syndrome xsd:anyURI {source="GARD:0000502"} @@ -368482,8 +373897,10 @@ id: MONDO:0019947 name: rippling muscle disease 2 def: "An autosomal dominant condition caused by mutation(s) in the CAV3 gene, encoding caveolin-3. It is characterized by mechanically triggered contractions of skeletal muscles. Limb-girdle muscular dystrophy type 1C is an allelic disorder with an overlapping phenotype." [NCIT:C148325] subset: ordo_disease {source="Orphanet:97238"} +synonym: "CAV3 rippling muscle disease" EXACT [MONDO:design_pattern] synonym: "rippling muscle disease 2" EXACT [NCIT:C148325] synonym: "rippling muscle disease 2; RMD2" RELATED [OMIM:606072] +synonym: "rippling muscle disease caused by mutation in CAV3" EXACT [MONDO:design_pattern] synonym: "rippling muscle disease type 2" EXACT [DOID:0060255, MONDORULE:1] synonym: "RMD2" EXACT [NCIT:C148325] synonym: "RMD2" RELATED [OMIM:606072] @@ -368551,7 +373968,7 @@ xref: SCTID:240059009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0026850 {source="MONDO:subClassOf", source="Orphanet:97242"} xref: UMLS:C0699743 {source="ORDO:97242/e", source="MEDGEN:kboom-pr98-c99", source="Orphanet:97242", source="MONDO:equivalentTo"} xref: UMLS:C2937300 {source="DOID:0050557"} -is_a: MONDO:0020121 {source="DOID:0050557", source="Orphanet:97242", source="linkedlifedata"} ! muscular dystrophy +is_a: MONDO:0020121 {source="DOID:0050557", source="Orphanet:97242", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy [Term] id: MONDO:0019951 @@ -368668,7 +374085,7 @@ xref: SCTID:45170000 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="DOID:9588 xref: UMLS:C0014038 {source="NCIT:C26760", source="DOID:9588", source="ORDO:97275/e", source="Orphanet:97275", source="MONDO:equivalentTo"} is_a: MONDO:0005560 {source="DOID:9588", source="MESH:D004660", source="MONDO:Entailed", source="linkedlifedata"} ! brain disease is_a: MONDO:0015144 {source="Orphanet:97275"} ! brain inflammatory disease -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000955 ! brain intersection_of: has_modifier PATO:0000389 ! acute @@ -368807,6 +374224,7 @@ subset: ordo_disease {source="Orphanet:97287"} synonym: "bronchial NET" EXACT [Orphanet:97287] synonym: "bronchial neuroendocrine tumor" RELATED [Orphanet:97287] synonym: "bronchus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] +synonym: "neuroendocrine neoplasm of bronchus" EXACT [MONDO:design_pattern] xref: ICD10:D38.1 {source="ORDO:97287/ntbt", source="Orphanet:97287"} xref: Orphanet:97287 {source="MONDO:equivalentTo"} xref: UMLS:CN206886 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -368820,6 +374238,7 @@ id: MONDO:0019964 name: thymic neuroendocrine tumor def: "Thymic endocrine tumor is a rare, malignant, primary thymic neoplasm originating from neuroendocrine cells, presenting as a mass within the anterior mediastinum. Patients typically present with nonspecific symptoms, such as chest pain, cough, shortness of breath, or in some cases, superior vena cava syndrome, although patients could be asymptomatic during the early stages or present with multiple endocrine neoplasia type I. Ectopic production of ACTH and serotonin can lead to Cushing syndrome and carcinoid sydrome, respectively." [Orphanet:97289] subset: ordo_disease {source="Orphanet:97289"} +synonym: "neuroendocrine neoplasm of thymus" EXACT [MONDO:design_pattern] synonym: "thymus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] xref: ICD10:D38.4 {source="Orphanet:97289", source="ORDO:97289/ntbt"} xref: ONCOTREE:TNET {source="MONDO:equivalentTo"} @@ -368961,7 +374380,7 @@ xref: SCTID:418279001 {source="MONDO:kboom-pr-0.88/0.74/0.14", source="DOID:8457 xref: SCTID:56550003 {source="DOID:8457"} xref: UMLS:C0030783 {source="DOID:8457", source="ORDO:97352/e", source="Orphanet:97352", source="MONDO:equivalentTo"} xref: UMLS:C4317126 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0006873 {source="DOID:8457", source="MESH:D010383/inferred", source="linkedlifedata"} ! nutritional deficiency disease +is_a: MONDO:0006873 {source="DOID:8457", source="MESH:D010383/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease is_a: MONDO:0019052 {source="OWLReasoner:2017"} ! inborn errors of metabolism is_a: MONDO:0019546 {source="Orphanet:97352"} ! other acquired skin disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10014/pellagra xsd:anyURI {source="GARD:0010014"} @@ -369179,7 +374598,7 @@ xref: Orphanet:97567 {source="MONDO:equivalentTo"} xref: SCTID:73305009 {source="MONDO:kboom-pr-1.00/0.80/9.98", source="MONDO:equivalentTo"} xref: UMLS:C0268749 {source="Orphanet:97567"} xref: UMLS:C2242534 {source="Orphanet:97567"} -is_a: MONDO:0002462 {source="MONDOLEX:0019991", source="NCIT:C96182"} ! glomerulonephritis (disease) +is_a: MONDO:0002462 {source="MONDOLEX:0019991", source="NCIT:C96182", source="linkedlifedata"} ! glomerulonephritis (disease) is_a: MONDO:0019605 {source="Orphanet:97567"} ! immunotactoid or fibrillary glomerulopathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12048/immunotactoid-glomerulopathy xsd:anyURI {source="GARD:0012048"} @@ -369850,6 +375269,8 @@ id: MONDO:0020049 name: autosomal anomaly def: "A chromosomal anomaly that involves the GO:0030849." [MONDO:patterns/location] subset: ordo_group_of_disorders {source="Orphanet:98127"} +synonym: "autosome chromosomal anomaly" EXACT [MONDO:design_pattern] +synonym: "chromosomal anomaly of autosome" EXACT [MONDO:design_pattern] xref: Orphanet:98127 {source="MONDO:equivalentTo"} xref: UMLS:CN227743 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0019040 {source="Orphanet:98127"} ! chromosomal anomaly @@ -369943,7 +375364,7 @@ xref: Orphanet:98155 {source="MONDO:equivalentTo"} xref: SCTID:95462004 {source="MONDO:kboom-pr-0.77/0.38/0.75", source="MONDO:equivalentTo"} xref: UMLS:C0036868 {source="Orphanet:98155"} xref: UMLS:C0949683 {source="Orphanet:98155"} -is_a: MONDO:0019040 {source="Orphanet:98155", source="linkedlifedata"} ! chromosomal anomaly +is_a: MONDO:0019040 {source="Orphanet:98155", source="linkedlifedata", source="linkedlifedata/inferred"} ! chromosomal anomaly [Term] id: MONDO:0020059 @@ -370066,7 +375487,7 @@ xref: NCIT:C79550 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equiva xref: SCTID:312215006 {source="MONDO:equivalentTo"} xref: UMLS:C0596773 {source="NCIT:C79550"} is_a: MONDO:0019956 {source="MESH:D000069544", source="MONDO:Entailed", source="NCIT:C79550", source="linkedlifedata"} ! encephalitis -is_a: MONDO:0024619 {source="MESH:D000069544", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-21", source="linkedlife/inferred"} ! central nervous system infectious disorder +is_a: MONDO:0024619 {source="MESH:D000069544", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-21", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! central nervous system infectious disorder intersection_of: MONDO:0005550 ! infectious disease intersection_of: MONDO:0019956 ! encephalitis @@ -370110,7 +375531,10 @@ intersection_of: has_modifier HP:0003623 ! Neonatal onset [Term] id: MONDO:0020071 name: infantile epilepsy syndrome +def: "A epilepsy syndrome that occurs between 28 days to one year of life.." [MONDO:design_pattern] subset: ordo_group_of_disorders {source="Orphanet:98258"} +synonym: "epilepsy syndrome of infancy" EXACT [MONDO:design_pattern] +synonym: "infantile onset epilepsy syndrome" EXACT [MONDO:design_pattern] xref: ICD10:G40.4 {source="ORDO:98258/attributed", source="Orphanet:98258", source="ORDO:98258/ntbt"} xref: Orphanet:98258 {source="MONDO:equivalentTo"} xref: UMLS:CN206975 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} @@ -370121,7 +375545,11 @@ intersection_of: has_modifier HP:0003593 ! Infantile onset [Term] id: MONDO:0020072 name: childhood-onset epilepsy syndrome +def: "A epilepsy syndrome that occurs during childhood." [MONDO:design_pattern] subset: ordo_group_of_disorders {source="Orphanet:98259"} +synonym: "childhood epilepsy syndrome" EXACT [MONDO:design_pattern] +synonym: "epilepsy syndrome of childhood" EXACT [MONDO:design_pattern] +synonym: "pediatric epilepsy syndrome" EXACT [MONDO:design_pattern] xref: ICD10:G40.4 {source="Orphanet:98259", source="ORDO:98259/attributed", source="ORDO:98259/ntbt"} xref: Orphanet:98259 {source="MONDO:equivalentTo"} xref: UMLS:CN206976 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} @@ -370166,7 +375594,7 @@ xref: SCTID:267581004 {source="MONDO:kboom-pr-0.81/0.62/0.09", source="DOID:891" xref: SCTID:89480000 {source="DOID:891"} xref: UMLS:C0751778 {source="ORDO:98261/e", source="NCIT:C7636", source="DOID:891", source="MONDO:equivalentTo", source="Orphanet:98261"} is_a: MONDO:0000416 {source="DOID:891"} ! variable age at onset electroclinical syndrome -is_a: MONDO:0005027 {source="MESH:D020191/inferred", source="MONDO:Redundant", source="NCIT:C7636", source="linkedlifedata"} ! epilepsy +is_a: MONDO:0005027 {source="DOID:891/inferred", source="MESH:D020191/inferred", source="MONDO:Redundant", source="NCIT:C7636", source="linkedlifedata", source="linkedlifedata/inferred"} ! epilepsy is_a: MONDO:0020072 {source="Orphanet:98261"} ! childhood-onset epilepsy syndrome is_a: MONDO:0020073 {source="Orphanet:98261"} ! adolescent-onset epilepsy syndrome @@ -370251,7 +375679,7 @@ xref: NCIT:C7175 {source="MONDO:equivalentTo"} xref: OMIM:601626 {source="Orphanet:98277", source="MONDO:subClassOf", source="MONDO:superClassOf"} xref: Orphanet:98277 {source="MONDO:equivalentTo"} xref: UMLS:C1275661 {source="Orphanet:98277", source="ORDO:98277/e"} -is_a: MONDO:0018874 {source="MONDOLEX:0020078", source="Orphanet:98277"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="MONDOLEX:0020078", source="NCIT:C7175", source="Orphanet:98277"} ! acute myeloid leukemia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/12758/acute-myeloid-leukemia-with-recurrent-genetic-anomaly xsd:anyURI {source="GARD:0012758"} [Term] @@ -370371,7 +375799,7 @@ xref: UMLS:C1720860 {source="DOID:0050440"} xref: UMLS:C1720861 {source="DOID:0050440"} is_a: MONDO:0020087 {source="Orphanet:98306"} ! genetic lipodystrophy is_a: MONDO:0021106 {source="https://en.wikipedia.org/wiki/Laminopathy"} ! laminopathy -is_a: MONDO:0027767 {source="MONDOLEX:0020088", source="NCIT:C84708"} ! partial lipodystrophy +is_a: MONDO:0027767 {source="DOID:0050440", source="MONDOLEX:0020088", source="NCIT:C84708"} ! partial lipodystrophy intersection_of: MONDO:0027767 ! partial lipodystrophy intersection_of: has_modifier MONDO:0021150 ! genetic @@ -370452,6 +375880,7 @@ name: autosomal dominant disease associated with focal palmoplantar keratoderma def: "Autosomal dominant form of disease with focal palmoplantar keratoderma as a major feature." [MONDO:patterns/autosomal_dominant] subset: ordo_group_of_disorders {source="Orphanet:98353"} synonym: "autosomal dominant disease associated with focal palmoplantar hyperkeratosis as a major feature" EXACT [Orphanet:98353] +synonym: "autosomal dominant disease with focal palmoplantar keratoderma as a major feature" EXACT [MONDO:design_pattern] synonym: "disease with focal palmoplantar keratoderma as a major feature, autosomal dominant" EXACT [MONDO:patterns/autosomal_dominant] xref: ICD10:Q82.8 {source="ORDO:98353/ntbt", source="ORDO:98353/attributed", source="Orphanet:98353"} xref: Orphanet:98353 {source="MONDO:equivalentTo"} @@ -370798,6 +376227,7 @@ subset: ordo_group_of_disorders {source="Orphanet:98472"} synonym: "disease of skeletal muscle tissue" EXACT [MONDO:patterns/location_top] synonym: "disorder of skeletal muscle tissue" RELATED [MONDO:patterns/location_top] synonym: "skeletal muscle tissue disease" EXACT [MONDO:patterns/location] +synonym: "skeletal muscle tissue disease or disorder" EXACT [MONDO:design_pattern] xref: MedDRA:10028641 {source="ORDO:98472/e", source="Orphanet:98472"} xref: MESH:D009135 {source="ORDO:98472/e", source="Orphanet:98472", source="MONDO:relatedTo"} xref: Orphanet:98472 {source="MONDO:equivalentTo"} @@ -370837,7 +376267,7 @@ xref: SCTID:267712004 {source="DOID:9884"} xref: SCTID:44292004 {source="DOID:9884"} xref: SCTID:73297009 {source="DOID:9884", source="MONDO:kboom-pr-0.95/0.75/1.92", source="MONDO:equivalentTo"} xref: UMLS:C0026850 {source="NCIT:C84910", source="ORDO:98473/e", source="DOID:9884", source="Orphanet:98473", source="MONDO:equivalentTo"} -is_a: MONDO:0005336 {source="DOID:9884", source="NCIT:C84910", source="linkedlifedata"} ! myopathy +is_a: MONDO:0005336 {source="DOID:9884", source="NCIT:C84910", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopathy is_a: MONDO:0020120 {source="Orphanet:98473", source="Orphanet:98473/inferred", source="linkedlifedata"} ! skeletal muscle disease is_a: MONDO:0020127 {source="OWLReasoner:2017"} ! genetic peripheral neuropathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/7922/muscular-dystrophy xsd:anyURI {source="GARD:0007922"} @@ -370872,7 +376302,7 @@ xref: NCIT:C98985 {source="MONDO:kboom-pr-1.00/0.86/15.87", source="MONDO:equiva xref: Orphanet:98486 {source="MONDO:equivalentTo"} xref: SCTID:26111005 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0270984 {source="NCIT:C98985", source="Orphanet:98486", source="ORDO:98486/e", source="MONDO:equivalentTo"} -is_a: MONDO:0005336 {source="NCIT:C98985", source="linkedlifedata"} ! myopathy +is_a: MONDO:0005336 {source="NCIT:C98985", source="linkedlifedata", source="linkedlifedata/inferred"} ! myopathy is_a: MONDO:0016110 {source="Orphanet:98486"} ! non-dystrophic myopathy [Term] @@ -370941,6 +376371,7 @@ synonym: "anterior horn cell disease" EXACT [Orphanet:98503] synonym: "disease of motor neuron" EXACT [MONDO:patterns/location_top] synonym: "disorder of motor neuron" RELATED [MONDO:patterns/location_top] synonym: "motor neuron disease" EXACT [MONDO:0005270, MONDO:patterns/location] +synonym: "motor neuron disease or disorder" EXACT [MONDO:design_pattern] xref: COHD:374631 {source="MONDO:equivalentTo"} xref: DOID:231 {source="EFO:0003782", source="MONDO:equivalentTo"} xref: EFO:0003782 {source="MONDO:equivalentTo"} @@ -371123,8 +376554,8 @@ xref: SCTID:16517004 {source="DOID:10742", source="MONDO:kboom-pr-1.00/0.85/15.4 xref: SCTID:192786008 {source="DOID:10742"} xref: SCTID:192789001 {source="DOID:10742"} xref: UMLS:C0007788 {source="DOID:10742", source="MONDO:equivalentTo"} -is_a: MONDO:0005560 {source="linkedlife"} ! brain disease -is_a: MONDO:0019245 {source="linkedlife"} ! lysosomal lipid storage disorder +is_a: MONDO:0005560 {source="DOID:10742/inferred", source="linkedlifedata"} ! brain disease +is_a: MONDO:0019245 {source="linkedlifedata"} ! lysosomal lipid storage disorder is_a: MONDO:0020142 {source="Orphanet:98544"} ! metabolic disease with dementia [Term] @@ -371285,7 +376716,7 @@ xref: MedDRA:10014923 {source="Orphanet:98568", source="ORDO:98568/e"} xref: Orphanet:98568 {source="MONDO:equivalentTo"} xref: SCTID:20392000 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.84/15.03"} xref: UMLS:C0266579 {source="Orphanet:98568", source="ORDO:98568/e"} -is_a: MONDO:0001519 {source="MONDO:cjm", source="linkedlife"} ! entropion (disease) +is_a: MONDO:0001519 {source="MONDO:cjm", source="linkedlifedata"} ! entropion (disease) is_a: MONDO:0020158 {source="Orphanet:98568"} ! eyelids malposition disorder [Term] @@ -371304,7 +376735,7 @@ xref: ICD10:Q10.1 {source="ORDO:98570/e", source="ORDO:98570/specific", source=" xref: Orphanet:98570 {source="MONDO:equivalentTo"} xref: SCTID:26590002 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0266578 {source="ORDO:98570/e", source="Orphanet:98570"} -is_a: MONDO:0002043 {source="MONDO:cjm", source="linkedlife"} ! ectropion (disease) +is_a: MONDO:0002043 {source="MONDO:cjm", source="linkedlifedata"} ! ectropion (disease) is_a: MONDO:0020158 {source="Orphanet:98570"} ! eyelids malposition disorder [Term] @@ -371403,7 +376834,7 @@ synonym: "skin of eyelid tumor" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of skin of eyelid" EXACT [MONDO:patterns/neoplasm] xref: Orphanet:98581 {source="MONDO:equivalentTo"} xref: SCTID:126499002 {source="MONDO:equivalentTo"} -is_a: MONDO:0002235 {source="MONDO:Entailed", source="Orphanet:98581"} ! eyelid neoplasm +is_a: MONDO:0002235 {source="MONDO:Entailed", source="Orphanet:98581", source="linkedlifedata"} ! eyelid neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001457 ! skin of eyelid @@ -371441,7 +376872,7 @@ synonym: "malignant skin of eyelid neoplasm" EXACT [MONDO:patterns/cancer] synonym: "skin of eyelid cancer" EXACT [MONDO:patterns/location] xref: Orphanet:98584 {source="MONDO:equivalentTo"} xref: SCTID:423425006 {source="MONDO:equivalentTo"} -is_a: MONDO:0020172 {source="MONDO:Entailed", source="MONDOLEX:0020175", source="Orphanet:98584"} ! palpebral epidermal tumor +is_a: MONDO:0020172 {source="MONDO:Entailed", source="MONDOLEX:0020175", source="Orphanet:98584", source="linkedlifedata"} ! palpebral epidermal tumor intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001457 ! skin of eyelid @@ -371486,6 +376917,7 @@ name: palpebral nevus def: "A melanocytic nevus that involves the skin of eyelid." [MONDO:patterns/location] subset: ordo_group_of_disorders {source="Orphanet:98588"} synonym: "eyelid Nevus" EXACT [NCIT:C3880] +synonym: "melanocytic nevus of skin of eyelid" EXACT [MONDO:design_pattern] synonym: "Nevus of eyelid" EXACT [NCIT:C3880] synonym: "Nevus of the eyelid" EXACT [NCIT:C3880] synonym: "skin of eyelid melanocytic nevus" EXACT [MONDO:patterns/location] @@ -371493,8 +376925,8 @@ xref: NCIT:C3880 {source="MONDO:equivalentTo"} xref: Orphanet:98588 {source="MONDO:equivalentTo"} xref: SCTID:231827008 {source="MONDO:equivalentTo"} xref: UMLS:C0239460 {source="Orphanet:98588", source="NCIT:C3880", source="MONDO:equivalentTo", source="ORDO:98588/e"} -is_a: MONDO:0002235 {source="MONDO:Redundant", source="NCIT:C3880", source="Orphanet:98588/inferred"} ! eyelid neoplasm -is_a: MONDO:0005073 {source="MONDO:Redundant", source="NCIT:C3880"} ! melanocytic nevus +is_a: MONDO:0002235 {source="MONDO:Redundant", source="NCIT:C3880", source="Orphanet:98588/inferred", source="linkedlifedata/inferred"} ! eyelid neoplasm +is_a: MONDO:0005073 {source="MONDO:Redundant", source="NCIT:C3880", source="linkedlifedata"} ! melanocytic nevus is_a: MONDO:0020177 {source="Orphanet:98588"} ! pigmented palpebral tumor is_a: MONDO:0021583 {source="MONDO:Redundant", source="NCIT:C3880"} ! melanocytic skin neoplasm intersection_of: MONDO:0005073 ! melanocytic nevus @@ -372064,12 +377496,16 @@ is_a: MONDO:0020223 {source="Orphanet:98655"} ! lens and zonula anomaly [Term] id: MONDO:0020238 -name: genetic vitreous-retinal disease +name: inherited vitreous-retinal disease subset: ordo_group_of_disorders {source="Orphanet:98657"} synonym: "genetic vitreoretinal disease" EXACT [MONDO:cjm] xref: Orphanet:98657 {source="MONDO:equivalentTo"} xref: UMLS:CN207063 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0015107 {source="Orphanet:98657"} ! rare genetic eye disease +intersection_of: MONDO:0000001 ! disease or disorder +intersection_of: disease_has_location UBERON:0000966 ! retina +intersection_of: disease_has_location UBERON:0001798 ! vitreous body +intersection_of: has_modifier MONDO:0021152 ! genetic and inherited [Term] id: MONDO:0020239 @@ -372094,7 +377530,7 @@ name: unclassified familial retinal dystrophy subset: ordo_group_of_disorders {source="Orphanet:98662"} xref: Orphanet:98662 {source="MONDO:equivalentTo"} xref: UMLS:CN227835 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0019118 {source="Orphanet:98662"} ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="Orphanet:98662"} ! inherited retinal dystrophy [Term] id: MONDO:0020242 @@ -372108,8 +377544,8 @@ xref: ICD10:H35.5 {source="MONDO:directSiblingOf", source="ORDO:98664/ntbt", sou xref: NCIT:C140264 {source="MONDO:kboom-pr-1.00/0.92/31.20", source="MONDO:equivalentTo"} xref: Orphanet:98664 {source="MONDO:equivalentTo"} xref: SCTID:276436007 {source="MONDO:kboom-pr-1.00/0.78/6.88", source="MONDO:equivalentTo"} -is_a: MONDO:0019118 {source="MONDO:Entailed", source="NCIT:C140264", source="Orphanet:98664", source="linkedlifedata"} ! genetic retinal dystrophy -intersection_of: MONDO:0019118 ! genetic retinal dystrophy +is_a: MONDO:0019118 {source="MONDO:Entailed", source="NCIT:C140264", source="Orphanet:98664", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited retinal dystrophy +intersection_of: MONDO:0019118 ! inherited retinal dystrophy intersection_of: disease_has_major_feature HP:0007754 ! Macular dystrophy [Term] @@ -372132,7 +377568,7 @@ name: disease predisposing to age-related macular degeneration subset: ordo_group_of_disorders {source="Orphanet:98667"} xref: Orphanet:98667 {source="MONDO:equivalentTo"} xref: UMLS:CN207066 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0020238 {source="Orphanet:98667"} ! genetic vitreous-retinal disease +is_a: MONDO:0020238 {source="Orphanet:98667"} ! inherited vitreous-retinal disease [Term] id: MONDO:0020246 @@ -372140,7 +377576,7 @@ name: vitreoretinopathy subset: ordo_group_of_disorders {source="Orphanet:98668"} xref: Orphanet:98668 {source="MONDO:equivalentTo"} xref: UMLS:C1850109 {source="MONDO:equivalentTo"} -is_a: MONDO:0020238 {source="Orphanet:98668"} ! genetic vitreous-retinal disease +is_a: MONDO:0020238 {source="Orphanet:98668"} ! inherited vitreous-retinal disease [Term] id: MONDO:0020247 @@ -372163,7 +377599,7 @@ xref: ICD10:H35.5 {source="ORDO:98670/inclusion", source="Orphanet:98670", sourc xref: Orphanet:98670 {source="MONDO:equivalentTo"} xref: SCTID:247182006 {source="MONDO:kboom-pr-1.00/0.91/29.33", source="MONDO:equivalentTo"} xref: UMLS:C0344290 {source="ORDO:98670/e", source="Orphanet:98670", source="MONDO:equivalentTo"} -is_a: MONDO:0001377 {source="linkedlife"} ! vitreous syneresis +is_a: MONDO:0001377 {source="linkedlifedata"} ! vitreous syneresis is_a: MONDO:0020246 {source="Orphanet:98670"} ! vitreoretinopathy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5506/vitreoretinal-degeneration xsd:anyURI {source="GARD:0005506"} @@ -372192,9 +377628,9 @@ xref: Orphanet:98672 {source="MONDO:equivalentTo"} xref: SCTID:2065009 {source="MONDO:kboom-pr-1.00/0.80/9.30", source="MONDO:equivalentTo"} xref: UMLS:C0338508 {source="NCIT:C84577", source="ORDO:98672/e", source="Orphanet:98672", source="MONDO:equivalentTo"} is_a: MONDO:0000426 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! autosomal dominant disease -is_a: MONDO:0003608 {source="MESH:D029241/inferred", source="MONDO:Entailed", source="NCIT:C84577/inferred", source="OWLReasoner:2017", source="linkedlife/inferred"} ! optic atrophy +is_a: MONDO:0003608 {source="MESH:D029241/inferred", source="MONDO:Entailed", source="NCIT:C84577/inferred", source="OWLReasoner:2017", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! optic atrophy is_a: MONDO:0020249 {source="Orphanet:98672", source="Orphanet:98672/inferred"} ! hereditary optic neuropathy -is_a: MONDO:0043878 {source="NCIT:C84577"} ! hereditary optic atrophy +is_a: MONDO:0043878 {source="MESH:D029241", source="NCIT:C84577", source="linkedlifedata"} ! hereditary optic atrophy intersection_of: MONDO:0003608 ! optic atrophy intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance @@ -372221,6 +377657,7 @@ subset: ordo_group_of_disorders {source="Orphanet:98683"} xref: Orphanet:98683 {source="MONDO:equivalentTo"} xref: UMLS:CN207072 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0020251 {source="Orphanet:98683"} ! rare strabismus and restriction syndrome +relationship: disease_has_feature HP:0000486 ! Strabismus [Term] id: MONDO:0020254 @@ -372490,9 +377927,9 @@ xref: SCTID:193499001 {source="DOID:13141"} xref: SCTID:267719008 {source="DOID:13141"} xref: SCTID:75614007 {source="DOID:13141", source="MONDO:superClassOf"} xref: UMLS:C0042164 {source="Orphanet:98715", source="NCIT:C26909", source="DOID:13141", source="ORDO:98715/e", source="MONDO:equivalentTo"} -is_a: MONDO:0002661 {source="DOID:13141", source="MESH:D014605", source="MONDO:Entailed", source="NCIT:C26909/inferred", source="linkedlife"} ! uveal disease +is_a: MONDO:0002661 {source="DOID:13141", source="MESH:D014605", source="MONDO:Entailed", source="NCIT:C26909/inferred", source="linkedlifedata"} ! uveal disease is_a: MONDO:0015937 {source="Orphanet:98715"} ! rare inflammatory eye disease -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001768 ! uvea @@ -372680,7 +378117,7 @@ xref: SCTID:234148007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C0003855 {source="Orphanet:98731", source="ORDO:98731/e"} xref: UMLS:C0332965 {source="NCIT:C35377"} is_a: MONDO:0016230 {source="Orphanet:98731"} ! simple vascular malformation -is_a: MONDO:0024239 {source="NCIT:C35377"} ! congenital anomaly of cardiovascular system +is_a: MONDO:0024239 {source="NCIT:C35377", source="linkedlifedata/inferred"} ! congenital anomaly of cardiovascular system [Term] id: MONDO:0020297 @@ -372954,7 +378391,7 @@ xref: Orphanet:98831 {source="MONDO:equivalentTo"} xref: SCTID:444911000 {source="MONDO:equivalentTo"} xref: UMLS:C1292775 {source="Orphanet:98831", source="ORDO:98831/e"} xref: UMLS:C2919692 {source="NCIT:C82403"} -is_a: MONDO:0020078 {source="Orphanet:98831"} ! acute myeloid leukemia with recurrent genetic anomaly +is_a: MONDO:0020078 {source="NCIT:C82403", source="Orphanet:98831"} ! acute myeloid leukemia with recurrent genetic anomaly [Term] id: MONDO:0020319 @@ -373139,7 +378576,7 @@ xref: Orphanet:98841 {source="MONDO:equivalentTo"} xref: SCTID:277637000 {source="MONDO:kboom-pr-0.76/0.38/0.65", source="MONDO:equivalentTo"} xref: UMLS:C0206180 {source="NCIT:C3720", source="Orphanet:98841", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0005169 {source="EFO:0003032", source="NCIT:C3720/inferred"} ! neoplasm of mature T-cells or NK-cells -is_a: MONDO:0015760 {source="NCIT:C3720/inferred", source="Orphanet:98841"} ! T-cell non-Hodgkin lymphoma +is_a: MONDO:0015760 {source="MESH:D017728", source="NCIT:C3720/inferred", source="Orphanet:98841"} ! T-cell non-Hodgkin lymphoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/3112/anaplastic-large-cell-lymphoma xsd:anyURI {source="GARD:0003112"} [Term] @@ -373285,7 +378722,7 @@ xref: SCTID:128924002 {source="DOID:9254"} xref: SCTID:188755006 {source="DOID:9254"} xref: SCTID:70798001 {source="DOID:9254"} xref: UMLS:C0023461 {source="NCIT:C3169", source="ORDO:98851/e", source="Orphanet:98851", source="DOID:9254", source="MONDO:equivalentTo"} -is_a: MONDO:0005059 {source="DOID:9254", source="EFO:0007359", source="NCIT:C3169"} ! leukemia (disease) +is_a: MONDO:0005059 {source="DOID:9254", source="EFO:0007359", source="MESH:D007946", source="MESH:D007946/inferred", source="NCIT:C3169", source="linkedlifedata"} ! leukemia (disease) is_a: MONDO:0016586 {source="NCIT:C3169/inferred", source="ONCOTREE:SMMCL", source="Orphanet:98851"} ! systemic mastocytosis [Term] @@ -373333,7 +378770,7 @@ xref: OMIM:615631 {source="Orphanet:98869", source="ORDO:98869/btnt", source="MO xref: Orphanet:98869 {source="MONDO:equivalentTo"} xref: SCTID:59548005 {source="MONDO:equivalentTo"} xref: UMLS:C0271933 {source="Orphanet:98869", source="ORDO:98869/e"} -is_a: MONDO:0019403 {source="Orphanet:98869"} ! congenital dyserythropoietic anemia +is_a: MONDO:0019403 {source="Orphanet:98869", source="linkedlifedata"} ! congenital dyserythropoietic anemia [Term] id: MONDO:0020338 @@ -373342,7 +378779,9 @@ def: "Adult pure red cell aplasia is a rare acquired aplastic anemia characteriz subset: ordo_disease {source="Orphanet:98872"} synonym: "acquired PRCA" RELATED [GARD:0010898] synonym: "acquired pure red cell aplasia" RELATED [GARD:0010898] +synonym: "adult pure red-cell aplasia" EXACT [MONDO:design_pattern] synonym: "idiopathic pure red cell aplasia" RELATED [GARD:0010898] +synonym: "pure red-cell aplasia of adults" EXACT [MONDO:design_pattern] xref: GARD:0010898 {source="Orphanet-shared", source="MONDO:equivalentTo"} xref: ICD10:D60.0 {source="ORDO:98872/ntbt", source="Orphanet:98872"} xref: NCIT:C70548 {source="MONDO:equivalentTo"} @@ -373397,7 +378836,7 @@ xref: Orphanet:98892 {source="DOID:0050454", source="MONDO:equivalentTo"} xref: SCTID:448227009 {source="DOID:0050454", source="MONDO:superClassOf"} xref: UMLS:C1848213 {source="DOID:0050454"} xref: UMLS:C1868720 {source="ORDO:98892/e", source="DOID:0050454", source="Orphanet:98892", source="MONDO:equivalentTo"} -is_a: MONDO:0002320 {source="DOID:0050454"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="DOID:0050454"} ! congenital nervous system disorder is_a: MONDO:0016292 {source="Orphanet:98892"} ! nodular neuronal heterotopia [Term] @@ -373521,7 +378960,7 @@ xref: Orphanet:98917 {source="MONDO:equivalentTo"} xref: SCTID:716722005 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.76/0.38/0.69"} xref: UMLS:C3900111 {source="NCIT:C116927"} is_a: MONDO:0007691 {source="NCIT:C116927"} ! chronic inflammatory demyelinating polyneuropathy -is_a: MONDO:0016218 {source="MONDOLEX:0020348", source="NCIT:C116927", source="Orphanet:98917", source="linkedlife"} ! Guillain-Barre syndrome +is_a: MONDO:0016218 {source="MONDOLEX:0020348", source="NCIT:C116927", source="Orphanet:98917", source="linkedlifedata"} ! Guillain-Barre syndrome [Term] id: MONDO:0020349 @@ -373539,7 +378978,7 @@ xref: SCTID:715770009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:eq xref: UMLS:C3890941 {source="NCIT:C116929", source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} xref: UMLS:CN207196 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} is_a: MONDO:0007691 {source="NCIT:C116929"} ! chronic inflammatory demyelinating polyneuropathy -is_a: MONDO:0016218 {source="MONDOLEX:0020349", source="NCIT:C116929", source="Orphanet:98918", source="linkedlife"} ! Guillain-Barre syndrome +is_a: MONDO:0016218 {source="MONDOLEX:0020349", source="NCIT:C116929", source="Orphanet:98918", source="linkedlifedata"} ! Guillain-Barre syndrome [Term] id: MONDO:0020350 @@ -373740,6 +379179,7 @@ is_a: MONDO:0020214 {source="Orphanet:98975"} ! posterior corneal dystrophy id: MONDO:0020366 name: congenital glaucoma def: "Congenital glaucoma (CG) is a developmental glaucoma that results from the abnormal development of the aqueous drainage structure, characterized by an elevated intra-ocular pressure, enlargement of globe (buphthalmos), corneal edema and optic nerve cupping, and presenting clinically with the characteristic triad of epiphora, photophobia and blepharospasm." [Orphanet:98976] +comment: Editor note: check placement of subclasses subset: ordo_disease {source="Orphanet:98976"} synonym: "buphthalmia" EXACT [Orphanet:98976] synonym: "buphthalmos" EXACT [Orphanet:98976] @@ -374008,7 +379448,7 @@ xref: SCTID:129609000 {source="DOID:1441", source="MONDO:kboom-pr-0.99/0.76/4.01 xref: UMLS:C0029534 {source="DOID:1441"} xref: UMLS:C0087012 {source="DOID:1441"} is_a: MONDO:0000437 {source="MONDO:Entailed", source="MONDO:cjm", source="Orphanet:99/inferred"} ! cerebellar ataxia -is_a: MONDO:0000557 {source="Orphanet:99"} ! hereditary ataxia +is_a: MONDO:0000557 {source="DOID:1441", source="Orphanet:99"} ! hereditary ataxia is_a: MONDO:0020140 {source="Orphanet:99"} ! late-onset ataxia with dementia is_a: MONDO:0020263 {source="Orphanet:99"} ! spinocerebellar ataxia with oculomotor anomaly is_a: MONDO:0022687 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-03-06", source="linkedlifedata"} ! cerebellar degeneration @@ -374070,7 +379510,7 @@ xref: OMIM:607616 {source="MONDO:directSiblingOf", source="ORDO:99022/ntbt", sou xref: Orphanet:99022 {source="MONDO:equivalentTo"} xref: SCTID:73399005 {source="MONDO:kboom-pr-0.68/0.30/0.22", source="MONDO:equivalentTo"} xref: UMLS:C0268248 {source="ORDO:99022/e", source="Orphanet:99022"} -is_a: MONDO:0001982 {source="MONDO:cjm", source="Orphanet:99022", source="linkedlife"} ! Niemann-Pick disease +is_a: MONDO:0001982 {source="MONDO:cjm", source="Orphanet:99022", source="linkedlifedata"} ! Niemann-Pick disease property_value: confidence "4.9333333333333345" xsd:double [Term] @@ -374226,7 +379666,7 @@ xref: ICD9:746.5 {source="i2s", source="MONDO:equivalentTo"} xref: Orphanet:99057 {source="MONDO:equivalentTo"} xref: SCTID:82458004 {source="MONDO:kboom-pr-1.00/0.74/6.21", source="MONDO:equivalentTo"} xref: UMLS:C0158618 {source="Orphanet:99057", source="GARD:0001496"} -is_a: MONDO:0019817 {source="Orphanet:99057"} ! congenital mitral valve insufficiency and/or stenosis +is_a: MONDO:0019817 {source="ICD10:Q23.2", source="Orphanet:99057"} ! congenital mitral valve insufficiency and/or stenosis intersection_of: MONDO:0005852 ! mitral valve stenosis intersection_of: disease_has_feature MONDO:0021152 ! genetic and inherited @@ -374292,7 +379732,7 @@ xref: SCTID:41371000119100 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MON xref: UMLS:C1868705 {source="ORDO:99063/e", source="MONDO:equivalentTo", source="Orphanet:99063"} is_a: MONDO:0002254 {source="NCIT:C99058"} ! syndromic disease is_a: MONDO:0019817 {source="Orphanet:99063"} ! congenital mitral valve insufficiency and/or stenosis -is_a: MONDO:0024239 {source="NCIT:C99058"} ! congenital anomaly of cardiovascular system +is_a: MONDO:0024239 {source="NCIT:C99058", source="linkedlifedata/inferred"} ! congenital anomaly of cardiovascular system [Term] id: MONDO:0020405 @@ -374650,7 +380090,7 @@ xref: ICD10:Q21.1 {source="Orphanet:99105", source="ORDO:99105/inclusion", sourc xref: MESH:C548009 {source="ORDO:99105/e", source="Orphanet:99105", source="MONDO:equivalentTo"} xref: Orphanet:99105 {source="MONDO:equivalentTo"} xref: UMLS:C0344730 {source="ORDO:99105/e", source="Orphanet:99105"} -is_a: MONDO:0006664 {source="MONDOLEX:0020436", source="Orphanet:99105"} ! atrial heart septal defect +is_a: MONDO:0006664 {source="MESH:C548009", source="MONDOLEX:0020436", source="Orphanet:99105"} ! atrial heart septal defect [Term] id: MONDO:0020437 @@ -374665,7 +380105,7 @@ xref: ICD10:Q21.2 {source="ORDO:99106/inclusion", source="Orphanet:99106", sourc xref: MESH:C548006 {source="Orphanet:99106", source="ORDO:99106/e", source="MONDO:equivalentTo"} xref: Orphanet:99106 {source="MONDO:equivalentTo"} xref: UMLS:C0741296 {source="Orphanet:99106", source="ORDO:99106/e"} -is_a: MONDO:0006664 {source="MONDOLEX:0020437", source="Orphanet:99106"} ! atrial heart septal defect +is_a: MONDO:0006664 {source="MESH:C548006", source="MONDOLEX:0020437", source="Orphanet:99106"} ! atrial heart septal defect [Term] id: MONDO:0020438 @@ -374700,7 +380140,7 @@ xref: SCTID:204317008 {source="DOID:13620"} xref: SCTID:268316001 {source="DOID:13620"} xref: SCTID:78902000 {source="DOID:13620"} xref: UMLS:C0016522 {source="NCIT:C34619", source="Orphanet:99108", source="ORDO:99108/e", source="DOID:13620", source="MONDO:equivalentTo"} -is_a: MONDO:0005453 {source="MESH:D054092/inferred", source="MONDO:Redundant", source="NCIT:C34619"} ! congenital heart disease +is_a: MONDO:0005453 {source="DOID:13620/inferred", source="MESH:D054092/inferred", source="MONDO:Redundant", source="NCIT:C34619"} ! congenital heart disease is_a: MONDO:0006664 {source="DOID:13620", source="MESH:D054092", source="MONDOLEX:0020439"} ! atrial heart septal defect [Term] @@ -374736,7 +380176,7 @@ xref: ICD10:Q26.1 {source="ORDO:99111/ntbt", source="Orphanet:99111"} xref: ICD9:747.49 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:99111 {source="MONDO:equivalentTo"} xref: SCTID:445436005 {source="MONDO:kboom-pr-0.77/0.38/0.77", source="MONDO:equivalentTo"} -is_a: MONDO:0019829 {source="Orphanet:99111", source="linkedlifedata"} ! congenital anomaly of superior vena cava +is_a: MONDO:0019829 {source="Orphanet:99111", source="linkedlifedata", source="linkedlifedata/inferred"} ! congenital anomaly of superior vena cava [Term] id: MONDO:0020443 @@ -374912,7 +380352,7 @@ xref: ICD9:282.7 {source="i2s", source="MONDO:relatedTo"} xref: Orphanet:99139 {source="MONDO:equivalentTo"} xref: SCTID:18273004 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0272006 {source="ORDO:99139/e", source="Orphanet:99139", source="MONDO:equivalentTo"} -is_a: MONDO:0019050 {source="Orphanet:99139", source="linkedlifedata"} ! inherited hemoglobinopathy +is_a: MONDO:0019050 {source="Orphanet:99139", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited hemoglobinopathy [Term] id: MONDO:0020460 @@ -374935,7 +380375,7 @@ xref: SCTID:234451005 {source="DOID:0111146", source="MONDO:kboom-pr-1.00/0.79/8 xref: SCTID:60078000 {source="DOID:0111146"} xref: UMLS:C0272362 {source="DOID:0111146", source="ORDO:99147/e", source="Orphanet:99147", source="MONDO:equivalentTo"} xref: url:https\://www.ncbi.nlm.nih.gov/pubmed/28028990 {source="DOID:0111146"} -is_a: MONDO:0001531 {source="DOID:0111146", source="linkedlife/inferred"} ! blood coagulation disease +is_a: MONDO:0001531 {source="DOID:0111146", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! blood coagulation disease is_a: MONDO:0015662 {source="Orphanet:99147"} ! rare hemorrhagic disorder due to an acquired coagulation factor defect intersection_of: MONDO:0024574 ! von Willebrand disease (hereditary or acquired) intersection_of: has_modifier MONDO:0021141 ! acquired @@ -375023,7 +380463,7 @@ xref: Orphanet:99228 {source="MONDO:equivalentTo"} xref: SCTID:710010005 {source="MONDO:equivalentTo"} xref: UMLS:C4040907 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} xref: UMLS:CN776903 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0019499 {source="MONDOLEX:0020467", source="Orphanet:99228"} ! Turner syndrome +is_a: MONDO:0019499 {source="MONDOLEX:0020467", source="Orphanet:99228", source="linkedlifedata"} ! Turner syndrome [Term] id: MONDO:0020468 @@ -375165,7 +380605,7 @@ xref: OMIM:102200 {source="Orphanet:99725", source="MONDO:directSiblingOf", sour xref: Orphanet:99725 {source="MONDO:equivalentTo"} xref: SCTID:86073008 {source="MONDO:kboom-pr-1.00/0.78/6.85", source="MONDO:equivalentTo"} xref: UMLS:C0017547 {source="Orphanet:99725", source="ORDO:99725/e"} -is_a: MONDO:0006793 {source="MESH:D005877", source="linkedlife/inferred"} ! hyperpituitarism +is_a: MONDO:0006793 {source="MESH:D005877", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! hyperpituitarism is_a: MONDO:0019927 {source="Orphanet:99725"} ! growth hormone-producing pituitary gland neoplasm [Term] @@ -375304,8 +380744,8 @@ xref: NCIT:C128335 {source="MONDO:kboom-pr-1.00/0.93/31.20", source="MONDO:equiv xref: Orphanet:99748 {source="MONDO:equivalentTo"} xref: SCTID:240447002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0343528 {source="Orphanet:99748", source="NCIT:C128335", source="ORDO:99748/e", source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="MONDO:Redundant", source="NCIT:C128335", source="linkedlifedata"} ! bacterial infectious disease -is_a: MONDO:0005823 {source="DOID:0050150", source="Orphanet:99748", source="linkedlifedata"} ! legionellosis +is_a: MONDO:0005113 {source="DOID:0050150/inferred", source="MONDO:Redundant", source="NCIT:C128335", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0005823 {source="DOID:0050150", source="Orphanet:99748", source="linkedlifedata", source="linkedlifedata/inferred"} ! legionellosis [Term] id: MONDO:0020488 @@ -375383,7 +380823,7 @@ xref: Orphanet:99796 {source="DOID:0111169", source="MONDO:equivalentTo"} xref: UMLS:C1848201 {source="DOID:0111169", source="Orphanet:99796", source="NCIT:C116933", source="ORDO:99796/e", source="MONDO:equivalentTo"} xref: UMLS:C4284594 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0020491", source="NCIT:C116933"} ! syndromic disease -is_a: MONDO:0002320 {source="DOID:0111169"} ! congenital nervous system abnormality +is_a: MONDO:0002320 {source="DOID:0111169"} ! congenital nervous system disorder is_a: MONDO:0015572 {source="Orphanet:99796"} ! cerebral malformation due to abnormal neuronal migration property_value: confidence "0.7645614035087713" xsd:double property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2250/familial-band-heterotopia xsd:anyURI {source="GARD:0002250"} @@ -375436,7 +380876,8 @@ xref: ICD10:K00.2 {source="ORDO:99806/ntbt", source="ORDO:99806/attributed", sou xref: OMIM:166750 {source="ORDO:99806/ntbt", source="MONDO:subClassOf", source="Orphanet:99806"} xref: Orphanet:99806 {source="MONDO:equivalentTo"} xref: UMLS:C2750325 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="Orphanet:99806"} -is_a: MONDO:0008161 ! Otodental syndrome +is_a: MONDO:0015336 {source="Orphanet:99806"} ! malformation syndrome with odontal and/or periodontal component +is_a: MONDO:0016910 {source="Orphanet:99806"} ! partial deletion of the long arm of chromosome 11 property_value: confidence "6.312500000000001" xsd:double [Term] @@ -375524,8 +380965,8 @@ xref: Orphanet:99826 {source="MONDO:equivalentTo"} xref: SCTID:123322008 {source="DOID:4327"} xref: SCTID:77503002 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DOID:4327", source="MONDO:equivalentTo"} xref: UMLS:C0024788 {source="Orphanet:99826", source="DOID:4327", source="NCIT:C84883", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="EFO:0007358", source="MESH:D008379/inferred", source="MONDO:Redundant", source="NCIT:C84883", source="linkedlifedata"} ! viral infectious disease -is_a: MONDO:0018087 {source="MESH:D008379", source="Orphanet:99826", source="linkedlifedata"} ! viral hemorrhagic fever +is_a: MONDO:0005108 {source="DOID:4327", source="EFO:0007358", source="MESH:D008379/inferred", source="MONDO:Redundant", source="NCIT:C84883", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral infectious disease +is_a: MONDO:0018087 {source="MESH:D008379", source="Orphanet:99826", source="linkedlifedata", source="linkedlifedata/inferred"} ! viral hemorrhagic fever relationship: realized_in_response_to_stimulus NCBITaxon:186537 ! Marburgvirus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9444/marburg-hemorrhagic-fever xsd:anyURI {source="GARD:0009444"} @@ -375594,7 +381035,7 @@ xref: SCTID:266194002 {source="DOID:9682"} xref: UMLS:C0043395 {source="NCIT:C35547", source="ORDO:99829/e", source="Orphanet:99829", source="DOID:9682", source="MONDO:equivalentTo"} xref: UMLS:C0043397 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} xref: UMLS:C0043398 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="MESH:D015004/inferred", source="MONDO:Redundant", source="NCIT:C35547"} ! viral infectious disease +is_a: MONDO:0005108 {source="DOID:9682", source="MESH:D015004/inferred", source="MONDO:Redundant", source="NCIT:C35547"} ! viral infectious disease is_a: MONDO:0018093 {source="Orphanet:99829"} ! arbovirus fever is_a: MONDO:0019519 {source="OWLReasoner:2017"} ! rare skin disease intersection_of: MONDO:0000001 ! disease or disorder @@ -375756,15 +381197,17 @@ def: "A rare variant of seminoma characterized by the presence of three cell typ subset: ordo_disease {source="Orphanet:99865"} synonym: "spermatocytic seminoma" EXACT [NCIT:C39921] synonym: "testicular spermatocytic seminoma" EXACT [MONDO:0004388, NCIT:C39921] +xref: DOID:5834 {source="MONDO:equivalentTo"} xref: DOID:7891 {source="MONDO:equivalentTo"} xref: ICD10:C62.9 {source="Orphanet:99865", source="ORDO:99865/ntbt"} xref: ICDO:9063/3 {source="NCIT:C39921"} -xref: NCIT:C39921 {source="MONDO:kboom-pr-0.88/0.76/0.07", source="MONDO:equivalentTo"} +xref: NCIT:C39921 {source="DOID:5834", source="MONDO:kboom-pr-0.88/0.76/0.07", source="MONDO:equivalentTo", source="MONDO:superClassOf"} xref: OMIM:273300 {source="Orphanet:99865", source="MONDO:subClassOf", source="ORDO:99865/ntbt"} xref: Orphanet:99865 {source="MONDO:equivalentTo"} -xref: UMLS:C0334517 {source="ORDO:99865/e", source="NCIT:C39921", source="Orphanet:99865", source="MONDO:equivalentTo"} -is_a: MONDO:0003667 {source="DOID:7891", source="MONDOLEX:0020513"} ! spermatocytoma +xref: SCTID:9294008 {source="DOID:5834"} +xref: UMLS:C0334517 {source="ORDO:99865/e", source="NCIT:C39921", source="DOID:5834", source="Orphanet:99865", source="MONDO:equivalentTo", source="MONDO:superClassOf"} is_a: MONDO:0003669 {source="DOID:7891", source="NCIT:C39921"} ! testicular seminoma +relationship: excluded_subClassOf MONDO:0003667 {source="DOID:7891", source="MONDOLEX:0020513"} ! obsolete spermatocytoma [Term] id: MONDO:0020514 @@ -375785,6 +381228,7 @@ def: "Thymic neuroendocrine carcinoma is a type of thymic epithelial neoplasm (s subset: ordo_disease {source="Orphanet:99869"} synonym: "neuroendocrine carcinoma of thymus" EXACT [] synonym: "thymic neuroendocrine carcinoma" EXACT [] +synonym: "thymus neuroendocrine carcinoma" EXACT [MONDO:design_pattern] xref: ICD10:C37 {source="Orphanet:99869", source="ORDO:99869/ntbt"} xref: Orphanet:99869 {source="MONDO:equivalentTo"} xref: SCTID:716653001 {source="MONDO:kboom-pr-1.00/0.78/7.08", source="MONDO:equivalentTo"} @@ -375878,7 +381322,7 @@ xref: SCTID:328611000119105 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MO xref: UMLS:C1455705 {source="Orphanet:99874", source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} xref: UMLS:C3161104 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} is_a: MONDO:0017029 {source="MONDOLEX:0020520", source="Orphanet:99874"} ! Langerhans cell histiocytosis specific to adulthood -is_a: MONDO:0018310 {source="MONDO:0020520/inferred", source="MONDOLEX:0020520/inferred", source="Orphanet:99874", source="linkedlifedata"} ! Langerhans cell histiocytosis +is_a: MONDO:0018310 {source="MONDO:0020520/inferred", source="MONDOLEX:0020520/inferred", source="NCIT:C142833/inferred", source="Orphanet:99874", source="linkedlifedata", source="linkedlifedata/inferred"} ! Langerhans cell histiocytosis is_a: MONDO:0020517 {source="NCIT:C142833"} ! eosinophilic granuloma is_a: MONDO:0021117 {source="NCIT:C142833"} ! lung neoplasm @@ -375999,17 +381443,35 @@ id: MONDO:0020528 name: ACTH-dependent Cushing syndrome def: "Adrenocorticotropic hormone dependent Cushing syndrome (ACTH-dependent CS) is a form of endogenous CS (see this term) caused by abnormal production of ACTH due, in 80% of cases, to ACTH oversecretion by a pituitary adenoma (Cushing disease, CD) and in 20% of cases to ectopic ACTH secretion (CS due to EAS; see these terms) by an extrapituitary tumor (in 50% of cases originating in the lungs or less commonly in the thymus, pancreas, adrenal gland or thyroid) or very rarely due to a tumor secreting both ACTH and corticotrophin-releasing hormone (CRH)." [Orphanet:99892] subset: ordo_group_of_disorders {source="Orphanet:99892"} +synonym: "ACTH hypersecretion, pituitary" RELATED [MESH:D047748] synonym: "ACTH-dependent CS" EXACT [Orphanet:99892] +synonym: "adrenocorticotropic hormone, inappropriate secretion" RELATED [MESH:D047748] synonym: "adrenocorticotropic hormone-dependent Cushing syndrome" EXACT [Orphanet:99892] synonym: "corticotropin-dependent Cushing syndrome" EXACT [Orphanet:99892] -xref: ICD10:E24.0 {source="MONDO:directSiblingOf", source="ORDO:99892/ntbt", source="Orphanet:99892"} +synonym: "overproduction of ACTH" EXACT [DOID:3946, MTHICD9_2006:255.3] +synonym: "pituitary Cushing disease" RELATED [MESH:D047748] +synonym: "pituitary Cushing diseases" RELATED [MESH:D047748] +synonym: "pituitary Cushing syndrome" RELATED [MESH:D047748] +synonym: "pituitary-dependent Cushing disease" EXACT [DOID:3946] +synonym: "pituitary-dependent Cushing's disease" EXACT [doi:10.1093/jama/9780195176339.003.0016, MONDO:LexicalVariant] +xref: DOID:3946 {source="EFO:1001110", source="MONDO:equivalentTo"} +xref: EFO:1001110 {source="MONDO:equivalentTo"} +xref: ICD10:E24.0 {source="EFO:1001110", source="MONDO:directSiblingOf", source="ORDO:99892/ntbt", source="Orphanet:99892", source="DOID:3946", source="MONDO:equivalentTo"} +xref: MedDRA:10035109 {source="EFO:1001110"} +xref: MESH:D047748 {source="EFO:1001110", source="DOID:3946", source="MONDO:equivalentTo"} +xref: NCIT:C113210 {source="MONDO:relatedTo", source="DOID:3946"} xref: Orphanet:99892 {source="MONDO:equivalentTo"} +xref: SCTID:190502001 {source="EFO:1001110", source="MONDO:kboom-pr-0.69/0.35/0.09", source="DOID:3946", source="MONDO:equivalentTo"} xref: SCTID:237734007 {source="MONDO:kboom-pr-1.00/0.79/8.26", source="MONDO:equivalentTo"} +xref: SCTID:9545009 {source="DOID:3946"} +xref: UMLS:C0221406 {source="MONDO:relatedTo", source="DOID:3946"} xref: UMLS:C0342442 {source="ORDO:99892/e", source="Orphanet:99892", source="MONDO:equivalentTo"} -is_a: MONDO:0018912 {source="MONDOLEX:0020528", source="Orphanet:99892"} ! Cushing syndrome +is_a: MONDO:0006793 {source="DOID:3946", source="MESH:D047748", source="linkedlifedata", source="linkedlifedata/inferred"} ! hyperpituitarism +is_a: MONDO:0018912 {source="EFO:1001110", source="ICD10:E24.0", source="MONDOLEX:0006910", source="MONDOLEX:0020528", source="Orphanet:99892"} ! Cushing syndrome intersection_of: MONDO:0018912 ! Cushing syndrome -intersection_of: disease_has_feature HP:0011043 ! Abnormality of circulating adrenocorticotropin level +intersection_of: disease_has_basis_in_disruption_of GO:0051458 ! corticotropin secretion disjoint_from: MONDO:0020529 ! ACTH-independent Cushing syndrome +relationship: disease_has_feature HP:0011043 ! Abnormality of circulating adrenocorticotropin level relationship: excluded_subClassOf MONDO:0018387 {source="Orphanet:99892"} ! rare male infertility due to adrenal disorder relationship: excluded_subClassOf MONDO:0018400 {source="Orphanet:99892"} ! rare female infertility due to an adrenal disorder @@ -376024,9 +381486,9 @@ synonym: "corticotropin-independent Cushing syndrome" EXACT [Orphanet:99893] xref: ICD10:E24.8 {source="ORDO:99893/ntbt", source="Orphanet:99893"} xref: Orphanet:99893 {source="MONDO:equivalentTo"} xref: UMLS:CN207429 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0018387 {source="Orphanet:99893"} ! rare male infertility due to adrenal disorder -is_a: MONDO:0018400 {source="Orphanet:99893"} ! rare female infertility due to an adrenal disorder is_a: MONDO:0018912 {source="MONDOLEX:0020529", source="Orphanet:99893"} ! Cushing syndrome +relationship: excluded_subClassOf MONDO:0018387 {source="Orphanet:99893"} ! rare male infertility due to adrenal disorder +relationship: excluded_subClassOf MONDO:0018400 {source="Orphanet:99893"} ! rare female infertility due to an adrenal disorder [Term] id: MONDO:0020530 @@ -376088,7 +381550,7 @@ xref: Orphanet:99903 {source="MONDO:equivalentTo"} xref: SCTID:19044004 {source="MONDO:kboom-pr-0.92/0.83/0.21", source="DOID:12096", source="MONDO:equivalentTo"} xref: UMLS:C0152062 {source="Orphanet:99903", source="DOID:12096"} is_a: MONDO:0000314 {source="DOID:12096", source="MONDO:Entailed"} ! primary bacterial infectious disease -is_a: MONDO:0006941 {source="MONDO:Entailed", source="Orphanet:99903", source="linkedlife"} ! rat-bite fever +is_a: MONDO:0006941 {source="MONDO:Entailed", source="Orphanet:99903", source="linkedlifedata"} ! rat-bite fever intersection_of: MONDO:0000314 ! primary bacterial infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:967 ! Spirillum relationship: disease_has_feature HP:0002829 ! Arthralgia @@ -376111,7 +381573,7 @@ xref: SCTID:52138004 {source="MONDO:kboom-pr-0.92/0.83/0.21", source="DOID:13238 xref: UMLS:C0152063 {source="DOID:13238", source="MONDO:equivalentTo"} xref: UMLS:CN207435 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000314 {source="DOID:13238", source="MONDO:Redundant"} ! primary bacterial infectious disease -is_a: MONDO:0006941 {source="MONDO:Entailed", source="Orphanet:99905", source="linkedlife"} ! rat-bite fever +is_a: MONDO:0006941 {source="MONDO:Entailed", source="Orphanet:99905", source="linkedlifedata"} ! rat-bite fever intersection_of: MONDO:0000314 ! primary bacterial infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:34105 ! Streptobacillus moniliformis relationship: disease_has_feature HP:0002829 ! Arthralgia @@ -376211,6 +381673,7 @@ def: "An aggressive granulosa cell tumor that arises from the ovary and metastas subset: gard_rare subset: ordo_disease {source="Orphanet:99915"} synonym: "adult granulosa cell tumor of the ovary" RELATED [GARD:0008642] +synonym: "adult ovarian granulosa cell tumor" EXACT [MONDO:design_pattern] synonym: "cancer of granulosa cell" EXACT [MONDO:patterns/cancer] synonym: "GCT of the ovary" RELATED [GARD:0008642] synonym: "granulosa cell cancer" EXACT [MONDO:patterns/location, Orphanet:99915] @@ -376226,6 +381689,7 @@ synonym: "malignant granulosa cell tumor of ovary" EXACT [NCIT:C8403] synonym: "malignant granulosa cell tumor of the ovary" EXACT [NCIT:C8403] synonym: "malignant ovarian granulosa cell neoplasm" EXACT [NCIT:C8403] synonym: "malignant ovarian granulosa cell tumor" EXACT [NCIT:C8403] +synonym: "ovarian granulosa cell tumor of adults" EXACT [MONDO:design_pattern] xref: GARD:0008642 {source="MONDO:equivalentTo"} xref: ICD10:C56 {source="ORDO:99915/ntbt", source="Orphanet:99915"} xref: MESH:D006106 {source="MONDO:subClassOf", source="ORDO:99915/e", source="Orphanet:99915"} @@ -376291,7 +381755,7 @@ xref: MedDRA:10044251 {source="ORDO:99918/e", source="Orphanet:99918"} xref: Orphanet:99918 {source="MONDO:equivalentTo"} xref: SCTID:240451000 {source="MONDO:kboom-pr-0.77/0.38/0.77", source="MONDO:equivalentTo"} xref: UMLS:C0343532 {source="ORDO:99918/e", source="Orphanet:99918", source="MONDO:equivalentTo"} -is_a: MONDO:0001881 {source="MONDO:Entailed", source="MONDOLEX:0020544", source="Orphanet:99918", source="linkedlife"} ! toxic shock syndrome +is_a: MONDO:0001881 {source="MONDO:Entailed", source="MONDOLEX:0020544", source="Orphanet:99918", source="linkedlifedata"} ! toxic shock syndrome intersection_of: MONDO:0001881 ! toxic shock syndrome intersection_of: realized_in_response_to_stimulus NCBITaxon:1301 ! Streptococcus @@ -376307,7 +381771,7 @@ xref: MedDRA:10044250 {source="ORDO:99919/e", source="Orphanet:99919"} xref: Orphanet:99919 {source="MONDO:equivalentTo"} xref: SCTID:240450004 {source="MONDO:kboom-pr-0.77/0.38/0.77", source="MONDO:equivalentTo"} xref: UMLS:C3714602 {source="Orphanet:99919"} -is_a: MONDO:0001881 {source="MONDO:Entailed", source="MONDOLEX:0020545", source="Orphanet:99919", source="linkedlife"} ! toxic shock syndrome +is_a: MONDO:0001881 {source="MONDO:Entailed", source="MONDOLEX:0020545", source="Orphanet:99919", source="linkedlifedata"} ! toxic shock syndrome is_a: MONDO:0017592 {source="Orphanet:99919"} ! staphylococcal toxemia intersection_of: MONDO:0001881 ! toxic shock syndrome intersection_of: realized_in_response_to_stimulus NCBITaxon:1279 ! Staphylococcus @@ -376422,7 +381886,7 @@ xref: SCTID:1884006 {source="DOID:2025"} xref: SCTID:417057000 {source="DOID:2025"} xref: SCTID:417570003 {source="DOID:2025", source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0349557 {source="DOID:2025", source="NCIT:C4646", source="MONDO:equivalentTo", source="ORDO:99926/e", source="Orphanet:99926"} -is_a: MONDO:0001416 {source="MONDO:Redundant", source="NCIT:C4646"} ! female reproductive organ cancer +is_a: MONDO:0001416 {source="DOID:2025/inferred", source="MONDO:Redundant", source="NCIT:C4646"} ! female reproductive organ cancer is_a: MONDO:0005207 {source="DOID:2025", source="NCIT:C4646", source="linkedlifedata"} ! choriocarcinoma (disease) is_a: MONDO:0018944 {source="MONDOLEX:0020550", source="NCIT:C4646", source="Orphanet:99926", source="linkedlifedata"} ! gestational trophoblastic neoplasm is_a: MONDO:0020539 {source="Orphanet:99926"} ! extragonadal non-dysgerminomatous germ cell tumor @@ -376457,7 +381921,7 @@ xref: Orphanet:99928 {source="MONDO:equivalentTo"} xref: SCTID:237252008 {source="EFO:1001111", source="DOID:3596", source="MONDO:kboom-pr-0.92/0.83/0.20", source="MONDO:equivalentTo"} xref: SCTID:75320001 {source="DOID:3596"} xref: UMLS:C0206666 {source="NCIT:C3757", source="DOID:3596", source="ORDO:99928/e", source="Orphanet:99928", source="MONDO:equivalentTo"} -is_a: MONDO:0005207 {source="DOID:3596", source="EFO:1001111"} ! choriocarcinoma (disease) +is_a: MONDO:0005207 {source="DOID:3596", source="EFO:1001111", source="MESH:D018245"} ! choriocarcinoma (disease) is_a: MONDO:0018944 {source="MONDOLEX:0020552", source="NCIT:C3757", source="Orphanet:99928", source="linkedlifedata"} ! gestational trophoblastic neoplasm [Term] @@ -376826,6 +382290,11 @@ relationship: has_modifier MONDO:0021137 ! not rare id: MONDO:0021002 name: syndactyly (disease) def: "A disease characterized by the presence of syndactyly, including syndromic and non-syndromic forms." [MONDO:DesignPattern] +synonym: "chromosome 2q35 duplication syndrome" EXACT [DOID:11193] +synonym: "symphalangism" EXACT [DOID:11193] +synonym: "symphalangy" EXACT [DOID:11193] +synonym: "syndactyly" RELATED [DOID:11193] +synonym: "webbing of digits" EXACT [DOID:11193] xref: DOID:11193 {source="MONDO:equivalentTo"} xref: HP:0001159 {source="MONDO:otherHierarchy", source="ontobio"} xref: ICD10:Q70 {source="DOID:11193"} @@ -376852,6 +382321,8 @@ xref: SCTID:373413006 {source="DOID:11193"} xref: SCTID:75352001 {source="DOID:11193"} xref: UMLS:C0039075 {source="Orphanet:90025", source="DOID:11193", source="MONDO:superClassOf"} is_a: MONDO:0005172 ! skeletal system disease +intersection_of: MONDO:0018454 ! dysostosis of genetic origin +intersection_of: disease_has_major_feature HP:0001159 ! Syndactyly relationship: disease_has_feature HP:0001159 ! Syndactyly [Term] @@ -376889,19 +382360,24 @@ xref: SCTID:367506006 {source="DOID:1148", source="MONDO:kboom-pr-1.00/0.79/8.49 xref: SCTID:403562000 {source="DOID:1148"} xref: SCTID:74537000 {source="DOID:1148"} xref: UMLS:C0152427 {source="NCBI:mim2gene_medline", source="DOID:1148", source="Orphanet:2913", source="OMIM:603596", source="NCIT:C87110"} -is_a: MONDO:0000839 {source="DOID:1148"} ! physical disorder +is_a: MONDO:0000839 {source="DOID:1148", source="NCIT:C87110/inferred"} ! congenital abnormality is_a: MONDO:0005172 ! skeletal system disease +intersection_of: MONDO:0018454 ! dysostosis of genetic origin +intersection_of: disease_has_major_feature HP:0010442 ! Polydactyly relationship: disease_has_feature HP:0010442 ! Polydactyly [Term] id: MONDO:0021004 name: brachydactyly (disease) def: "A disease characterized by the presence of brachydactyly, including syndromic and non-syndromic forms." [MONDO:DesignPattern] +synonym: "brachydactyly" RELATED [DOID:0050581] xref: DOID:0050581 {source="MONDO:equivalentTo"} xref: HP:0001156 {source="MONDO:otherHierarchy", source="ontobio"} xref: MESH:D059327 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: UMLS:C0221357 {source="Orphanet:294937"} is_a: MONDO:0005172 ! skeletal system disease +intersection_of: MONDO:0018454 ! dysostosis of genetic origin +intersection_of: disease_has_major_feature HP:0001156 ! Brachydactyly relationship: disease_has_feature HP:0001156 ! Brachydactyly [Term] @@ -377000,6 +382476,9 @@ def: "A subtype of trichothiodystrophy caused by mutation(s) in the MPLKIP gene, synonym: "Amish brittle hair brain syndrome" RELATED [OMIM:234050] synonym: "Bids syndrome" RELATED [OMIM:234050] synonym: "hair-brain syndrome" RELATED [OMIM:234050] +synonym: "MPLKIP nonphotosensitive trichothiodystrophy" EXACT [MONDO:design_pattern] +synonym: "nonphotosensitive trichothiodystrophy" RELATED [DOID:0050528] +synonym: "nonphotosensitive trichothiodystrophy caused by mutation in MPLKIP" EXACT [MONDO:design_pattern] synonym: "Pollitt syndrome" RELATED [OMIM:234050] synonym: "trichothiodystrophy 4, nonphotosensitive" EXACT [MONDO:Lexical, OMIM:234050] synonym: "trichothiodystrophy 4, nonphotosensitive; TTD4" RELATED [OMIM:234050] @@ -377016,7 +382495,7 @@ xref: UMLS:C1866504 {source="OMIM:234050"} xref: UMLS:C1961117 {source="NCBI:mim2gene_medline"} xref: UMLS:C3495483 {source="OMIM:234050"} is_a: MONDO:0009317 ! nonphotosensitive trichothiodystrophy -is_a: MONDO:0018053 {source="MONDO:Redundant", source="OMIM:234050"} ! trichothiodystrophy +is_a: MONDO:0018053 {source="MONDO:Redundant", source="NCIT:C146899", source="OMIM:234050"} ! trichothiodystrophy intersection_of: MONDO:0009317 ! nonphotosensitive trichothiodystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16002 ! MPLKIP relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/16002 {source="mim2gene_medgen"} ! MPLKIP @@ -377026,6 +382505,7 @@ id: MONDO:0021016 name: channelopathy def: "A disease caused by disturbed function of ion channel subunits or the proteins that regulate them." [https://en.wikipedia.org/wiki/Channelopathy] synonym: "disorder of ion channel activity" RELATED [MONDO:patterns/basis_in_disruption_of_process] +synonym: "ion channel activity disease" EXACT [MONDO:design_pattern] xref: MESH:D053447 {source="MONDO:ontobio", source="MONDO:equivalentTo"} xref: UMLS:C1720983 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0021196 {source="MONDO:metaclass"} ! disease by molecular activity disrupted @@ -377046,8 +382526,10 @@ name: autosomal dominant limb-girdle muscular dystrophy type 1D (DNAJB6) def: "Autosomal dominant limb-girdle muscular dystrophy type 1D (LGMD1D) is a subtype of autosomal dominant limb-girdle muscular dystrophy characterized by an adult-onset of slowly progressive, proximal pelvic girdle weakness, with none, or only minimal, shoulder girdle involvement, and absence of cardiac and respiratory symptoms. Mild to moderate elevated creatine kinase serum levels and gait abnormalities are frequently observed. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3." [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, Orphanet:34516] comment: Terminology note: Autosomal dominant LGMD mapped to 7q36 has been classified as LGMD1E in OMIM, but as LGMD1D in the Human Gene Nomenclature Committee Database. In the literature there is another LGMD1D/E erroneously mapped to 6q, but we will use the acronym LGMD1D for the 7q-disease and LGMD1E for the 6q-form. LGMD1D is caused by heterozygous missense mutations in the DNAJB6 gene at chr. 7q36.3 {source="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/"} subset: ordo_disease {source="Orphanet:34516"} +synonym: "autosomal dominant limb-girdle muscular dystrophy caused by mutation in DNAJB6" EXACT [MONDO:design_pattern] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1D" RELATED [Orphanet:34516] synonym: "autosomal dominant limb-girdle muscular dystrophy type 1E" RELATED DEPRECATED [DOID:0110305] +synonym: "DNAJB6 autosomal dominant limb-girdle muscular dystrophy" EXACT [MONDO:design_pattern] synonym: "LGMD1D" EXACT [Orphanet:34516] synonym: "LGMD1D (DNAJB6)" EXACT [MONDO:cjm] synonym: "LGMD1E" RELATED DEPRECATED [https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4021627/, MONDO:Lexical, OMIM:603511] @@ -377067,7 +382549,7 @@ xref: OMIM:603511 {source="Orphanet:34516", source="ORDO:34516/e", source="MONDO xref: Orphanet:34516 {source="DOID:0110305", source="MONDO:equivalentTo"} xref: UMLS:C3148763 {source="NCBI:mim2gene_medline", source="MONDO:directSiblingOf"} xref: UMLS:C3501858 {source="Orphanet:34516", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015151 {source="MONDOLEX:0021018", source="OMIM:603511", source="Orphanet:34516"} ! autosomal dominant limb-girdle muscular dystrophy +is_a: MONDO:0015151 {source="DOID:0110305", source="MONDOLEX:0021018", source="OMIM:603511", source="Orphanet:34516"} ! autosomal dominant limb-girdle muscular dystrophy intersection_of: MONDO:0015151 ! autosomal dominant limb-girdle muscular dystrophy intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14888 ! DNAJB6 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/14888 {source="mim2gene_medgen"} ! DNAJB6 @@ -377097,7 +382579,7 @@ xref: Orphanet:54 {source="OMIM:300500", source="MONDO:equivalentTo"} xref: SCTID:78642008 {source="MONDO:kboom-pr-1.00/0.81/10.50", source="MONDO:equivalentTo"} xref: UMLS:C0342684 {source="ORDO:54/e", source="NCIT:C118785", source="NCBI:mim2gene_medline", source="Orphanet:54", source="OMIM:300500", source="MONDO:equivalentTo"} is_a: MONDO:0017304 {source="MESH:C537863", source="Orphanet:54", source="linkedlifedata"} ! ocular albinism (disease) -is_a: MONDO:0043209 {source="NCIT:C118785"} ! albinism +is_a: MONDO:0043209 {source="MESH:C537863/inferred", source="NCIT:C118785", source="linkedlifedata/inferred"} ! albinism intersection_of: MONDO:0017304 ! ocular albinism (disease) intersection_of: has_modifier HP:0001419 ! X-linked recessive inheritance relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/20145 {source="mim2gene_medgen"} ! GPR143 @@ -377307,7 +382789,7 @@ synonym: "KP" EXACT [NCIT:C124070] xref: NCIT:C124070 {source="MONDO:kboom-pr-0.92/0.71/1.52", source="MONDO:equivalentTo"} xref: SCTID:5132005 {source="MONDO:kboom-pr-0.94/0.67/2.17", source="MONDO:equivalentTo"} xref: UMLS:C0263383 {source="NCIT:C124070"} -is_a: MONDO:0005093 {source="NCIT:C124070/inferred", source="linkedlifedata"} ! skin disease +is_a: MONDO:0005093 {source="NCIT:C124070/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease [Term] id: MONDO:0021037 @@ -377379,7 +382861,7 @@ xref: ONCOTREE:PANCREAS {source="MONDO:equivalentTo"} xref: SCTID:126859007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0030274 {source="ONCOTREE:PANCREAS"} xref: UMLS:C0030297 {source="NCIT:C3305"} -is_a: MONDO:0005070 {source="MESH:D010190/inferred", source="MONDO:Redundant", source="NCIT:C3305/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="MESH:D010190/inferred", source="MONDO:Redundant", source="NCIT:C3305/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001264 ! pancreas @@ -377403,7 +382885,7 @@ xref: NCIT:C4457 {source="DesignPattern", source="MONDO:equivalentTo"} xref: SCTID:254646001 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="DesignPattern", source="MONDO:equivalentTo"} xref: UMLS:C0334511 {source="NCIT:C4457", source="MONDO:relatedTo"} is_a: MONDO:0016238 {source="MONDO:Entailed", source="MONDOLEX:0021041", source="NCIT:C4457"} ! solitary fibrous tumor -is_a: MONDO:0021065 {source="MONDO:Entailed", source="MONDOLEX:0021041", source="NCIT:C4457", source="linkedlifedata"} ! pleural neoplasm +is_a: MONDO:0021065 {source="MONDO:Entailed", source="MONDOLEX:0021041", source="NCIT:C4457", source="linkedlifedata", source="linkedlifedata/inferred"} ! pleural neoplasm intersection_of: MONDO:0016238 ! solitary fibrous tumor intersection_of: disease_has_location UBERON:0000977 ! pleura @@ -377546,7 +383028,7 @@ xref: ICD9:239.5 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3443 {source="MONDO:equivalentTo"} xref: SCTID:126922007 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0042995 {source="NCIT:C3443"} -is_a: MONDO:0002187 {source="NCIT:C3443", source="linkedlife"} ! vulvar disease +is_a: MONDO:0002187 {source="NCIT:C3443", source="linkedlifedata"} ! vulvar disease is_a: MONDO:0021148 {source="MONDO:Entailed", source="NCIT:C3443", source="OWLReasoner:2017"} ! female reproductive system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva @@ -377569,7 +383051,7 @@ xref: ICD9:239.5 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3437 {source="MONDO:equivalentTo"} xref: SCTID:126921000 {source="MONDO:kboom-pr-0.98/0.75/3.46", source="MONDO:equivalentTo"} xref: UMLS:C0042258 {source="NCIT:C3437"} -is_a: MONDO:0001433 {source="MONDO:Entailed", source="NCIT:C3437", source="OWLReasoner:2017"} ! vaginal disease +is_a: MONDO:0001433 {source="MONDO:Entailed", source="NCIT:C3437", source="OWLReasoner:2017", source="linkedlifedata"} ! vaginal disease is_a: MONDO:0021148 {source="MONDO:Entailed", source="NCIT:C3437", source="OWLReasoner:2017"} ! female reproductive system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000996 ! vagina @@ -377584,6 +383066,7 @@ replaced_by: MONDO:0015540 id: MONDO:0021052 name: parasympathetic paraganglioma def: "A benign or malignant, usually non-functioning, extra-adrenal paraganglioma that arises from paraganglia located along the parasympathetic nerves. Representative examples include aorticopulmonary, carotid body, jugulotympanic, and mediastinal paragangliomas." [NCIT:C4217] +synonym: "paraganglioma of parasympathetic nervous system" EXACT [MONDO:design_pattern] synonym: "parasympathetic Extra-adrenal paraganglioma" EXACT [NCIT:C4217] synonym: "parasympathetic nervous system paraganglioma" EXACT [MONDO:patterns/location] synonym: "parasympathetic paraganglioma" EXACT [NCIT:C4217] @@ -377633,8 +383116,8 @@ xref: Orphanet:223727 {source="MONDO:equivalentTo"} xref: SCTID:448710000 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0029463 {source="Orphanet:223727"} xref: UMLS:C1704327 {source="ORDO:223727/e", source="Orphanet:223727", source="NCIT:C9312", source="MONDO:equivalentTo"} -is_a: MONDO:0002129 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! bone cancer -is_a: MONDO:0005089 {source="MONDO:Entailed", source="NCIT:C9312", source="linkedlife", source="linkedlifedata"} ! sarcoma +is_a: MONDO:0002129 {source="MONDO:Entailed", source="NCIT:C9312", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! bone cancer +is_a: MONDO:0005089 {source="MONDO:Entailed", source="NCIT:C9312", source="linkedlifedata", source="linkedlifedata/inferred"} ! sarcoma is_a: MONDO:0019060 {source="NCIT:C9312/inferred", source="Orphanet:223727"} ! bone neoplasm intersection_of: MONDO:0005089 {source="NCIT:C9312"} ! sarcoma intersection_of: disease_arises_from_structure UBERON:0002384 {source="NCIT:C9312"} ! connective tissue @@ -377693,6 +383176,8 @@ name: familial adenomatous polyposis 1 def: "Any attenuated familial adenomatous polyposis in which the cause of the disease is a mutation in the APC gene." [MONDO:patterns/disease_series_by_gene] synonym: "adenomatous polyposis coli, attenuated" RELATED [OMIM:175100] synonym: "adenomatous polyposis of the colon" RELATED [OMIM:175100] +synonym: "APC attenuated familial adenomatous polyposis" EXACT [MONDO:design_pattern] +synonym: "attenuated familial adenomatous polyposis caused by mutation in APC" EXACT [MONDO:design_pattern] synonym: "brain tumor-polyposis syndrome 2" RELATED [OMIM:175100] synonym: "familial adenomatous polyposis 1" EXACT [MONDO:Lexical, OMIM:175100] synonym: "familial adenomatous polyposis 1; FAP1" RELATED [OMIM:175100] @@ -377748,6 +383233,7 @@ id: MONDO:0021059 name: head or neck disease/disorder def: "Any disease or disorder affecting the head and/or neck region." [MONDO:cjm] synonym: "craniocervical region disease" EXACT [MONDO:patterns/location] +synonym: "craniocervical region disease or disorder" EXACT [MONDO:design_pattern] synonym: "disease of craniocervical region" EXACT [MONDO:patterns/location_top] synonym: "disorder of craniocervical region" RELATED [MONDO:patterns/location_top] synonym: "head and neck disorder" EXACT [NCIT:C27571] @@ -377763,6 +383249,7 @@ id: MONDO:0021060 name: RASopathy def: "The RASopathies are developmental syndromes caused by germline mutations (or in rare cases by somatic mosaicism) in genes that alter the Ras subfamily and mitogen-activated protein kinases that control signal transduction." [https://en.wikipedia.org/wiki/RASopathy] synonym: "disorder of Ras protein signal transduction" RELATED [MONDO:patterns/basis_in_disruption_of_process] +synonym: "Ras protein signal transduction disease" EXACT [MONDO:design_pattern] xref: EFO:1001502 {source="MONDO:equivalentTo"} is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted intersection_of: MONDO:0000001 ! disease or disorder @@ -377772,9 +383259,19 @@ intersection_of: disease_has_basis_in_disruption_of GO:0007265 ! Ras protein sig id: MONDO:0021061 name: neurofibromatosis def: "A hereditary neoplastic syndrome in which tumors grow in the nervous system. There are typically 3 main types recognized, but other forms with uncertain etiology exist." [https://en.wikipedia.org/wiki/Neurofibromatosis, MONDO:cjm, NCIT:C6727] +synonym: "Acoustic neurofibromatosis" EXACT [DOID:8712] +synonym: "central Neurofibromatosis" EXACT [DOID:8712] synonym: "neurofibromatosis" EXACT [NCIT:C6727] +synonym: "Neurofibromatosis 1" EXACT [DOID:8712] synonym: "neurofibromatosis syndrome" EXACT [NCIT:C6727] +synonym: "neurofibromatosis type 1" EXACT [DOID:8712] +synonym: "neurofibromatosis type 2" EXACT [DOID:8712] +synonym: "neurofibromatosis type 4" EXACT [DOID:8712] +synonym: "neurofibromatosis type IV" EXACT [DOID:8712] +synonym: "peripheral Neurofibromatosis" EXACT [DOID:8712] synonym: "Recklinghausen's neurofibromatosis" EXACT [DOID:8712] +synonym: "type IV neurofibromatosis of riccardi" EXACT [DOID:8712] +synonym: "von Reklinghausen disease" EXACT [DOID:8712] xref: COHD:376938 {source="MONDO:equivalentTo"} xref: DOID:8712 {source="MONDO:equivalentTo"} xref: GARD:0010420 {source="shared-umls-xref", source="MONDO:equivalentTo"} @@ -377799,9 +383296,9 @@ xref: UMLS:C0027832 {source="DOID:8712", source="MONDO:superClassOf"} xref: UMLS:C0162678 {source="NCIT:C6727", source="DOID:8712", source="MONDO:equivalentTo"} xref: UMLS:C0220695 {source="DOID:8712"} is_a: MONDO:0000426 {source="DOID:8712", source="https://en.wikipedia.org/wiki/Neurofibromatosis"} ! autosomal dominant disease -is_a: MONDO:0015356 {source="MESH:D017253", source="NCIT:C6727/inferred", source="NCIT:C84348", source="linkedlifedata"} ! hereditary neoplastic syndrome +is_a: MONDO:0015356 {source="MESH:D017253", source="NCIT:C6727/inferred", source="NCIT:C84348", source="linkedlifedata", source="linkedlifedata/inferred"} ! hereditary neoplastic syndrome is_a: MONDO:0016756 {source="https://en.wikipedia.org/wiki/Neurofibromatosis"} ! inherited nervous system cancer-predisposing syndrome -is_a: MONDO:0042983 {source="https://www.hopkinsmedicine.org"} ! neurocutaneous syndrome +is_a: MONDO:0042983 {source="MESH:D017253", source="NCIT:C6727", source="https://www.hopkinsmedicine.org", source="linkedlifedata"} ! neurocutaneous syndrome [Term] id: MONDO:0021062 @@ -377844,7 +383341,7 @@ xref: SCTID:363406005 {source="DOID:219", source="MONDO:kboom-pr-0.88/0.76/0.08" xref: SCTID:93761005 {source="DOID:219"} xref: UMLS:C0007102 {source="NCIT:C9242", source="DOID:219", source="MONDO:equivalentTo"} is_a: MONDO:0005401 {source="MONDO:Entailed", source="NCIT:C9242"} ! colonic neoplasm -is_a: MONDO:0005575 {source="MONDO:Entailed", source="MONDOLEX:0021063", source="NCIT:C9242", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! colorectal cancer +is_a: MONDO:0005575 {source="DOID:219", source="MONDO:Entailed", source="MONDOLEX:0021063", source="NCIT:C9242", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! colorectal cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001155 ! colon @@ -377859,6 +383356,7 @@ synonym: "jugular paraganglioma" EXACT [NCIT:C3061] synonym: "jugulotympanic paraganglioma" EXACT [NCIT:C3061] synonym: "neoplasm of glomus jugulare" EXACT [NCIT:C3061] synonym: "neoplasm of the glomus jugulare" EXACT [NCIT:C3061] +synonym: "parasympathetic paraganglioma of basicranium" EXACT [MONDO:design_pattern] synonym: "tumor of glomus jugulare" EXACT [NCIT:C3061] synonym: "tumor of the glomus jugulare" EXACT [NCIT:C3061] xref: ICD9:239.7 {source="i2s", source="MONDO:relatedTo"} @@ -377890,8 +383388,8 @@ synonym: "tumor of the pleura" EXACT [NCIT:C3332] xref: NCIT:C3332 {source="DesignPattern", source="MONDO:equivalentTo"} xref: SCTID:126719004 {source="MONDO:kboom-pr-0.98/0.75/3.46", source="DesignPattern", source="MONDO:equivalentTo"} xref: UMLS:C0032229 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3332", source="MONDO:equivalentTo"} -is_a: MONDO:0002037 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-13", source="linkedlifedata"} ! pleural disease -is_a: MONDO:0005070 {source="MONDO:Entailed", source="MONDOLEX:0021065", source="NCIT:C3332/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0002037 {source="MONDO:Entailed", source="NCIT:C3332", source="OWLReasoner:Elk-2018-01-13", source="linkedlifedata"} ! pleural disease +is_a: MONDO:0005070 {source="MONDO:Entailed", source="MONDOLEX:0021065", source="NCIT:C3332/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000977 ! pleura @@ -377919,7 +383417,7 @@ xref: ICD9:239.5 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3431 {source="MONDO:equivalentTo"} xref: SCTID:126879004 {source="MONDO:kboom-pr-0.87/0.73/0.06", source="MONDO:equivalentTo"} xref: UMLS:C0042076 {source="NCIT:C3431"} -is_a: MONDO:0005070 {source="MONDO:Entailed", source="MONDOLEX:0021066", source="NCIT:C3431/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="MONDO:Entailed", source="MONDOLEX:0021066", source="NCIT:C3431/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001008 ! renal system @@ -377958,7 +383456,7 @@ xref: ICD9:239.5 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4984 {source="MONDO:equivalentTo"} xref: SCTID:123843001 {source="MONDO:kboom-pr-0.89/0.75/0.39", source="MONDO:equivalentTo"} xref: UMLS:C0919267 {source="NCIT:C4984"} -is_a: MONDO:0005558 {source="MONDO:Entailed", source="NCIT:C4984", source="OWLReasoner:2017"} ! ovarian disease +is_a: MONDO:0005558 {source="MONDO:Entailed", source="NCIT:C4984", source="OWLReasoner:2017", source="linkedlifedata"} ! ovarian disease is_a: MONDO:0021148 {source="MONDO:Entailed", source="NCIT:C4984", source="OWLReasoner:2017"} ! female reproductive system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -377971,7 +383469,9 @@ synonym: "cancer of endocrine gland" EXACT [MONDO:patterns/cancer] synonym: "endocrine cancer" EXACT [NCIT:C3575] synonym: "endocrine cancer, NOS" RELATED EXCLUDE [NCIT:C3575] synonym: "endocrine gland cancer" EXACT [MONDO:patterns/location] +synonym: "endocrine neoplasm" EXACT [DOID:170] synonym: "endocrine neoplasm, malignant" EXACT [NCIT:C3575] +synonym: "Endocrine tumor" EXACT [DOID:170] synonym: "malignant endocrine gland neoplasm" EXACT [MONDO:patterns/cancer, NCIT:C3575] synonym: "malignant endocrine gland tumor" EXACT [NCIT:C3575] synonym: "malignant endocrine neoplasm" EXACT [NCIT:C3575] @@ -377981,6 +383481,7 @@ synonym: "malignant neoplasm of the endocrine gland" EXACT [NCIT:C3575] synonym: "malignant tumor of endocrine gland" EXACT [NCIT:C3575] synonym: "malignant tumor of the endocrine gland" EXACT [NCIT:C3575] synonym: "malignant tumour of endocrine gland" EXACT [DOID:170] +synonym: "neoplasm of endocrine gland" EXACT [DOID:170] synonym: "neoplasm of endocrine system" EXACT [DOID:170] xref: DOID:170 {source="MONDO:equivalentTo"} xref: ICD10:C75.9 {source="DOID:170"} @@ -378012,7 +383513,7 @@ synonym: "sublingual gland carcinoma" EXACT [MONDO:patterns/location, NCIT:C8397 xref: NCIT:C8397 {source="MONDO:equivalentTo"} xref: SCTID:254466003 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0345611 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C8397"} -is_a: MONDO:0004667 {source="MONDO:Entailed", source="MONDOLEX:0021070", source="NCIT:C8397", source="linkedlifedata"} ! sublingual gland cancer +is_a: MONDO:0004667 {source="MONDO:Entailed", source="MONDOLEX:0021070", source="NCIT:C8397", source="linkedlifedata", source="linkedlifedata/inferred"} ! sublingual gland cancer is_a: MONDO:0006284 {source="MONDO:Entailed", source="NCIT:C8397"} ! major salivary gland carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001832 ! sublingual gland @@ -378035,8 +383536,8 @@ xref: MESH:D007822 {source="MONDO:equivalentTo"} xref: NCIT:C3156 {source="MONDO:equivalentTo"} xref: SCTID:126692004 {source="MONDO:kboom-pr-0.98/0.75/3.46", source="MONDO:equivalentTo"} xref: UMLS:C0023055 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3156", source="MONDO:equivalentTo"} -is_a: MONDO:0004382 {source="MESH:D007822", source="MONDO:Entailed", source="NCIT:C3156", source="OWLReasoner:2017"} ! laryngeal disease -is_a: MONDO:0005070 {source="MESH:D007822/inferred", source="MONDO:Entailed", source="MONDOLEX:0021071", source="NCIT:C3156/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0004382 {source="MESH:D007822", source="MONDO:Entailed", source="NCIT:C3156", source="OWLReasoner:2017", source="linkedlifedata"} ! laryngeal disease +is_a: MONDO:0005070 {source="MESH:D007822/inferred", source="MONDO:Entailed", source="MONDOLEX:0021071", source="NCIT:C3156/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001737 ! larynx @@ -378047,6 +383548,7 @@ def: "A benign or malignant paraganglioma arising from the chromaffin cells of t synonym: "chromaffin neoplasm" EXACT [NCIT:C4216] synonym: "chromaffin tumor" EXACT [NCIT:C4216] synonym: "Chromaffinoma" EXACT [NCIT:C4216] +synonym: "paraganglioma of sympathetic nervous system" EXACT [MONDO:design_pattern] synonym: "sympathetic nervous system paraganglioma" EXACT [MONDO:patterns/location] synonym: "sympathetic paraganglioma" EXACT [NCIT:C4216] synonym: "sympathetic Paraganglionic neoplasm" EXACT [NCIT:C4216] @@ -378182,7 +383684,7 @@ xref: UMLS:C2986717 {source="NCIT:C94853"} is_a: MONDO:0000568 {source="OWLReasoner:2017"} ! autoimmune disease of central nervous system is_a: MONDO:0018215 {source="OWLReasoner:2017"} ! paraneoplastic neurologic syndrome is_a: MONDO:0019385 {source="NCIT:C94853"} ! steroid-responsive encephalopathy associated with autoimmune thyroiditis -is_a: MONDO:0019956 {source="NCIT:C94853", source="NCIT:C94853/inferred"} ! encephalitis +is_a: MONDO:0019956 {source="MESH:D060426", source="NCIT:C94853", source="NCIT:C94853/inferred"} ! encephalitis is_a: MONDO:0100029 {source="http://orcid.org/0000-0001-8486-0558"} ! antibody mediated epilepsy relationship: disease_has_basis_in_disruption_of GO:0004972 {source="MONDO:from-NCIT-text-def"} ! NMDA glutamate receptor activity @@ -378196,9 +383698,9 @@ synonym: "neoplasm of Meckel's diverticulum" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of Meckel's diverticulum" EXACT [MONDO:patterns/neoplasm] xref: SCTID:126836001 {source="MONDO:kboom-pr-0.77/0.38/0.78", source="MONDO:equivalentTo"} xref: UMLS:C0345839 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004251 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! small intestine neoplasm +is_a: MONDO:0004251 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata", source="linkedlifedata/inferred"} ! small intestine neoplasm is_a: MONDO:0006801 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! ileal neoplasm -is_a: MONDO:0021118 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! intestinal neoplasm +is_a: MONDO:0021118 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0003705 ! Meckel's diverticulum @@ -378208,10 +383710,12 @@ name: congenital fibrosis of extraocular muscles type 1 def: "Any congenital fibrosis of extraocular muscles in which the cause of the disease is a mutation in the KIF21A gene." [MONDO:patterns/disease_series_by_gene] synonym: "blepharoptosis with absent eye movements" RELATED [OMIM:135700] synonym: "CFEOM1" RELATED [MONDO:Lexical, OMIM:135700] +synonym: "congenital fibrosis of extraocular muscles caused by mutation in KIF21A" EXACT [MONDO:design_pattern] synonym: "Feom1 locus" RELATED [OMIM:135700] synonym: "fibrosis of extraocular muscles, congenital, 1" RELATED [MONDO:Lexical, OMIM:135700] synonym: "fibrosis of extraocular muscles, congenital, 1; CFEOM1" RELATED [OMIM:135700] synonym: "fibrosis of extraocular muscles, congenital, 3B" RELATED [OMIM:135700] +synonym: "KIF21A congenital fibrosis of extraocular muscles" EXACT [MONDO:design_pattern] synonym: "ophthalmoplegia, congenital" RELATED [OMIM:135700] xref: OMIM:135700 {source="MONDO:equivalentTo"} xref: Orphanet:45358 {source="MONDO:subClassOf", source="OMIM:135700"} @@ -378259,7 +383763,7 @@ xref: NCIT:C3387 {source="MONDO:equivalentTo"} xref: SCTID:126824007 {source="MONDO:kboom-pr-0.99/0.92/2.11", source="MONDO:equivalentTo"} xref: UMLS:C0038356 {source="NCIT:C3387", source="MONDO:equivalentTo"} is_a: MONDO:0004298 {source="MESH:D013274", source="MONDO:Entailed", source="NCIT:C3387", source="OWLReasoner:2017", source="linkedlifedata"} ! stomach disease -is_a: MONDO:0005070 {source="MESH:D013274/inferred", source="MONDO:Redundant", source="NCIT:C3387/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="MESH:D013274/inferred", source="MONDO:Redundant", source="NCIT:C3387/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) is_a: MONDO:0021223 {source="MESH:D013274", source="MONDO:Entailed", source="NCIT:C3387", source="OWLReasoner:Elk-2018-01-09"} ! digestive system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000945 ! stomach @@ -378286,7 +383790,7 @@ xref: NCIT:C3057 {source="MONDO:equivalentTo"} xref: SCTID:126792007 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-1.00/0.92/26.59"} xref: UMLS:C0017570 {source="NCIT:C3057", source="MONDO:equivalentTo"} is_a: MONDO:0002021 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! gingival disease -is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3057/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! head and neck neoplasm +is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C3057/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001828 ! gingiva @@ -378338,7 +383842,7 @@ xref: NCIT:C4961 {source="MONDO:equivalentTo"} xref: SCTID:254986007 {source="MONDO:kboom-pr-1.00/0.91/29.27", source="MONDO:equivalentTo"} xref: UMLS:C0751428 {source="NCIT:C4961", source="MONDO:equivalentTo"} is_a: MONDO:0001406 {source="MONDO:Entailed", source="MONDOLEX:0021089", source="NCIT:C4961", source="linkedlifedata"} ! peripheral nervous system neoplasm -is_a: MONDO:0005872 {source="MONDO:Entailed", source="MONDOLEX:0021089", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! nervous system cancer +is_a: MONDO:0005872 {source="MONDO:Entailed", source="MONDOLEX:0021089", source="NCIT:C4961", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! nervous system cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000010 ! peripheral nervous system @@ -378352,9 +383856,9 @@ synonym: "lipid-rich breast carcinoma" EXACT [MONDO:0004097, NCIT:C40365] xref: DOID:7076 {source="MONDO:equivalentTo"} xref: NCIT:C40365 {source="NCIT:C40365", source="DOID:7076", source="MONDO:equivalentTo"} xref: UMLS:C1517894 {source="NCIT:C40365", source="DOID:7076", source="MONDO:equivalentTo"} -is_a: MONDO:0003570 {source="MONDO:Entailed", source="MONDOLEX:0021090", source="NCIT:C40365"} ! lipid-rich carcinoma +is_a: MONDO:0003570 {source="DOID:7076", source="MONDO:Entailed", source="MONDOLEX:0021090", source="NCIT:C40365"} ! lipid-rich carcinoma is_a: MONDO:0003982 {source="DOID:7076"} ! bilateral breast carcinoma -is_a: MONDO:0004989 {source="MONDO:Redundant", source="NCIT:C40365/inferred", source="OWLReasoner:Elk-2018-01-05"} ! breast carcinoma +is_a: MONDO:0004989 {source="DOID:7076/inferred", source="MONDO:Redundant", source="NCIT:C40365/inferred", source="OWLReasoner:Elk-2018-01-05"} ! breast carcinoma intersection_of: MONDO:0003570 ! lipid-rich carcinoma intersection_of: disease_has_location UBERON:0000310 ! breast @@ -378368,7 +383872,7 @@ xref: ICDO:8450/0 {source="NCIT:C2974"} xref: MESH:D018292 {source="MONDO:equivalentTo"} xref: NCIT:C2974 {source="MONDO:equivalentTo"} xref: UMLS:C0010636 {source="NCIT:C2974", source="MONDO:equivalentTo"} -is_a: MONDO:0002369 {source="MONDO:Entailed", source="MONDOLEX:0021091", source="NCIT:C2974"} ! cystadenoma +is_a: MONDO:0002369 {source="MESH:D018292", source="MONDO:Entailed", source="MONDOLEX:0021091", source="NCIT:C2974"} ! cystadenoma is_a: MONDO:0006349 {source="MONDO:Entailed", source="NCIT:C2974"} ! papillary cystic neoplasm intersection_of: MONDO:0002369 {source="NCIT:C2974"} ! cystadenoma intersection_of: MONDO:0006349 {source="NCIT:C2974"} ! papillary cystic neoplasm @@ -378388,7 +383892,7 @@ xref: ICD9:239.5 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3032 {source="MONDO:equivalentTo"} xref: SCTID:126916003 {source="MONDO:kboom-pr-0.91/0.75/0.80", source="MONDO:equivalentTo"} xref: UMLS:C0015558 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo", source="NCIT:C3032"} -is_a: MONDO:0002156 {source="MONDO:Entailed", source="NCIT:C3032", source="OWLReasoner:2017", source="linkedlifedata"} ! fallopian tube disease +is_a: MONDO:0002156 {source="MONDO:Entailed", source="NCIT:C3032", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! fallopian tube disease is_a: MONDO:0021148 {source="MONDO:Entailed", source="NCIT:C3032", source="OWLReasoner:2017"} ! female reproductive system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0003889 ! fallopian tube @@ -378400,7 +383904,9 @@ def: "Any cranioectodermal dysplasia in which the cause of the disease is a muta synonym: "CED1" RELATED [MONDO:Lexical, OMIM:218330] synonym: "cranioectodermal dysplasia 1" EXACT [MONDO:Lexical, OMIM:218330] synonym: "CRANIOECTODERMAL dysplasia 1; CED1" RELATED [OMIM:218330] +synonym: "cranioectodermal dysplasia caused by mutation in IFT122" EXACT [MONDO:design_pattern] synonym: "Cranioectodermal dysplasia type 1" EXACT [MONDORULE:1, OMIM:218330] +synonym: "IFT122 cranioectodermal dysplasia" EXACT [MONDO:design_pattern] synonym: "Levin syndrome 1" RELATED [OMIM:218330] synonym: "Sensenbrenner syndrome" BROAD [OMIM:218330] xref: OMIM:218330 {source="MONDO:equivalentTo"} @@ -378448,7 +383954,8 @@ id: MONDO:0021097 name: intraductal breast papilloma def: "A benign papillary neoplasm that arises anywhere in the ductal system of the breast. It is characterized by fibrovascular structures lined by benign epithelial and myoepithelial proliferations. Intraductal breast papillomas are classified as central, when they arise in large ducts, or peripheral, when they arise in the terminal ductal lobular units." [NCIT:C3863] synonym: "breast papilloma" EXACT [NCIT:C3863] -synonym: "duct papilloma of breast" EXACT [NCIT:C3863] +synonym: "duct papilloma of breast" EXACT [DOID:1626, NCIT:C3863] +synonym: "duct papilloma of breast (disorder)" EXACT [DOID:1626, SCTID:254848002] synonym: "duct papilloma of the breast" EXACT [NCIT:C3863] synonym: "ductal breast papilloma" EXACT [NCIT:C3863] synonym: "intraductal breast papilloma" EXACT [NCIT:C3863] @@ -378456,14 +383963,16 @@ synonym: "intraductal papilloma of breast" EXACT [NCIT:C3863] synonym: "intraductal papilloma of the breast" EXACT [NCIT:C3863] synonym: "mammary duct papilloma" EXACT [MONDO:patterns/location] synonym: "papilloma of breast" EXACT [NCIT:C3863] -synonym: "papilloma of the breast" EXACT [NCIT:C3863] +synonym: "papilloma of the breast" EXACT [DOID:1626, NCIT:C3863] +xref: DOID:1626 {source="MONDO:equivalentTo"} xref: EFO:1000306 {source="MONDO:equivalentTo"} -xref: NCIT:C3863 {source="DesignPattern", source="MONDO:equivalentTo"} +xref: NCIT:C3863 {source="MONDO:directSiblingOf", source="DOID:1626", source="DesignPattern", source="MONDO:equivalentTo"} +xref: SCTID:254848002 {source="MONDO:kboom-pr-0.93/0.85/0.23", source="DOID:1626", source="MONDO:equivalentTo"} xref: SCTID:99571000119102 {source="MONDO:kboom-pr-0.93/0.85/0.23", source="DesignPattern", source="MONDO:equivalentTo"} -xref: UMLS:C0238034 {source="NCIT:C3863"} -is_a: MONDO:0000620 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! breast benign neoplasm +xref: UMLS:C0238034 {source="NCIT:C3863", source="DOID:1626"} +is_a: MONDO:0000620 {source="DOID:1626/inferred", source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-05", source="linkedlifedata"} ! breast benign neoplasm is_a: MONDO:0002060 {source="MONDO:Entailed", source="MONDOLEX:0021097", source="NCIT:C3863"} ! intraductal papilloma -is_a: MONDO:0002061 {source="NCIT:C3863"} ! intraductal papillary breast neoplasm +is_a: MONDO:0002061 {source="DOID:1626", source="NCIT:C3863"} ! intraductal papillary breast neoplasm intersection_of: MONDO:0002363 ! papilloma intersection_of: disease_has_location UBERON:0001765 ! mammary duct @@ -378513,7 +384022,7 @@ xref: SCTID:126926005 {source="MONDO:kboom-pr-0.90/0.75/0.66", source="MONDO:equ xref: UMLS:C0006141 {source="ONCOTREE:BREAST"} xref: UMLS:C1458155 {source="NCIT:C2910"} is_a: MONDO:0002657 {source="MESH:D001943", source="MONDO:Entailed", source="NCIT:C2910", source="OWLReasoner:2017", source="linkedlifedata"} ! breast disease -is_a: MONDO:0005070 {source="MESH:D001943/inferred", source="MONDO:Redundant", source="NCIT:C2910/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="MESH:D001943/inferred", source="MONDO:Redundant", source="NCIT:C2910/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) is_a: MONDO:0021350 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of thorax intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000310 ! breast @@ -378528,8 +384037,10 @@ synonym: "appendiceal L-cell glucagon-Like peptide-producing neuroendocrine tumo synonym: "appendix L-cell glucagon-Like peptide-producing NET" RELATED [NCIT:C27445] synonym: "appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [NCIT:C27445] synonym: "appendix L-cell NET" RELATED [NCIT:C27445] +synonym: "L-cell glucagon-like peptide-producing neuroendocrine tumor of vermiform appendix" EXACT [MONDO:design_pattern] synonym: "malignant appendiceal glucagonoma" EXACT [DOID:8151] synonym: "malignant appendiceal L-cell glucagon-like peptide producing tumor" EXACT [DOID:8151] +synonym: "vermiform appendix L-cell glucagon-like peptide-producing neuroendocrine tumor" EXACT [MONDO:design_pattern] xref: DOID:8151 {source="MONDO:equivalentTo"} xref: NCIT:C27445 {source="DOID:8151", source="MONDO:equivalentTo"} xref: UMLS:C3274138 {source="DOID:8151", source="NCIT:C27445", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -378586,7 +384097,7 @@ consider: MONDO:0005554 [Term] id: MONDO:0021104 name: alcoholic fatty liver disease -def: "Lipid infiltration of the hepatic parenchymal cells that is due to ALCOHOL ABUSE. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of TRIGLYCERIDES accumulated." [MESH:D005235] +def: "Lipid infiltration of the hepatic parenchymal cells that is due to alcohol abuse. The fatty changes in the alcoholic fatty liver may be reversible, depending on the amounts of triglycerides accumulated." [MESH:D005235] synonym: "alcoholic fatty liver" EXACT [MESH:D005235] synonym: "alcoholic Steatohepatitis" EXACT [MESH:D005235] xref: COHD:193256 {source="MONDO:equivalentTo"} @@ -378596,6 +384107,8 @@ xref: SCTID:50325005 {source="MONDO:kboom-pr-1.00/0.80/9.39", source="MONDO:equi xref: UMLS:C0015696 {source="MEDGEN:kboom-pr95-c96", source="MONDO:equivalentTo"} xref: UMLS:C2718067 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr92-c96"} is_a: MONDO:0004790 {source="MESH:D005235", source="MONDOLEX:0021104", source="linkedlifedata"} ! fatty liver disease +intersection_of: MONDO:0004790 ! fatty liver disease +intersection_of: realized_in_response_to ECTO:0001082 ! alcohol consumption related exposure [Term] id: MONDO:0021105 @@ -378634,7 +384147,7 @@ xref: NCIT:C84489 {source="MONDO:equivalentTo"} xref: OMIMPS:161400 {source="MONDO:cjm", source="MONDO:equivalentTo"} xref: SCTID:60380001 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.84/0.64/0.29"} xref: UMLS:C0027404 {source="ORDO:2073/e", source="Orphanet:2073", source="DOID:8986", source="NCIT:C84489", source="MONDO:equivalentTo"} -is_a: MONDO:0003406 {source="DOID:8986", source="MESH:D009290/inferred", source="NCIT:C84489"} ! sleep-wake disorder +is_a: MONDO:0003406 {source="DOID:8986", source="MESH:D009290/inferred", source="NCIT:C84489", source="linkedlifedata/inferred"} ! sleep-wake disorder [Term] id: MONDO:0021108 @@ -378648,8 +384161,8 @@ xref: ICD9:322.9 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C26828 {source="MONDO:equivalentTo"} xref: SCTID:7180009 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0025289 {source="NCIT:C26828"} -is_a: MONDO:0002602 {source="MONDO:Redundant", source="NCIT:C26828/inferred", source="OWLReasoner:2017", source="linkedlife/inferred"} ! central nervous system disease -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0002602 {source="MONDO:Redundant", source="NCIT:C26828/inferred", source="OWLReasoner:2017", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! central nervous system disease +is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0002360 ! meninx union_of: MONDO:0006662 ! aseptic meningitis @@ -378711,7 +384224,7 @@ xref: ICD9:239.5 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3427 {source="MONDO:equivalentTo"} xref: SCTID:126882009 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.88/0.75/0.06"} xref: UMLS:C0041955 {source="NCIT:C3427"} -is_a: MONDO:0021066 {source="MONDO:Entailed", source="NCIT:C3427/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! urinary system neoplasm +is_a: MONDO:0021066 {source="MONDO:Entailed", source="NCIT:C3427/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! urinary system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000056 ! ureter @@ -378758,7 +384271,7 @@ xref: SCTID:39871006 {source="MONDO:equivalentTo", source="MONDO:kboom-pr-0.98/0 xref: SCTID:65710008 {source="DOID:11162", source="MONDO:superClassOf"} xref: UMLS:C0264490 {source="DOID:11162", source="MONDO:superClassOf"} xref: UMLS:C1145670 {source="NCIT:C26872", source="MONDO:equivalentTo"} -is_a: MONDO:0005275 {source="DOID:11162", source="MONDO:Entailed"} ! lung disease +is_a: MONDO:0005275 {source="DOID:11162", source="MONDO:Entailed", source="NCIT:C26872/inferred"} ! lung disease relationship: disease_disrupts GO:0007585 ! respiratory gaseous exchange relationship: disease_has_location UBERON:0002048 ! lung @@ -378834,8 +384347,8 @@ xref: NCIT:C3200 {source="MONDO:equivalentTo"} xref: ONCOTREE:LUNG {source="MONDO:equivalentTo"} xref: UMLS:C0024109 {source="ONCOTREE:LUNG"} xref: UMLS:C0024121 {source="NCIT:C3200"} -is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3200/inferred", source="OWLReasoner:2017"} ! neoplasm (disease) -is_a: MONDO:0005275 {source="MESH:D008175"} ! lung disease +is_a: MONDO:0005070 {source="MESH:D008175/inferred", source="MONDO:Redundant", source="NCIT:C3200/inferred", source="OWLReasoner:2017"} ! neoplasm (disease) +is_a: MONDO:0005275 {source="MESH:D008175", source="NCIT:C3200"} ! lung disease is_a: MONDO:0021350 {source="MONDO:Entailed", source="NCIT:C3200", source="OWLReasoner:Elk-2018-01-09"} ! neoplasm of thorax intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0002048 ! lung @@ -378845,6 +384358,7 @@ id: MONDO:0021118 name: intestinal neoplasm def: "A benign or malignant neoplasm involving the small or large intestine." [NCIT:C3141] synonym: "bowel neoplasm" RELATED [ONCOTREE:BOWEL] +synonym: "intestinal benign neoplasm" RELATED [DOID:4610] synonym: "intestinal neoplasm" EXACT [NCIT:C3141] synonym: "intestinal neoplasms" EXACT [NCIT:C3141] synonym: "intestinal tumor" EXACT [NCIT:C3141] @@ -378867,8 +384381,8 @@ xref: ONCOTREE:BOWEL {source="MONDO:equivalentTo"} xref: SCTID:126769007 {source="DOID:4610", source="MONDO:kboom-pr-0.98/0.92/2.11", source="MONDO:equivalentTo"} xref: UMLS:C0021841 {source="DOID:4610", source="NCIT:C3141"} xref: UMLS:C0021853 {source="ONCOTREE:BOWEL"} -is_a: MONDO:0005020 {source="MONDO:Entailed", source="NCIT:C3141", source="linkedlifedata"} ! intestinal disease -is_a: MONDO:0005070 {source="MONDO:Redundant", source="NCIT:C3141/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005020 {source="DOID:4610", source="MONDO:Entailed", source="NCIT:C3141", source="linkedlifedata"} ! intestinal disease +is_a: MONDO:0005070 {source="DOID:4610/inferred", source="MONDO:Redundant", source="NCIT:C3141/inferred", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) is_a: MONDO:0021223 {source="MONDO:Entailed", source="NCIT:C3141", source="OWLReasoner:Elk-2018-01-09"} ! digestive system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000160 ! intestine @@ -378883,6 +384397,9 @@ synonym: "nonfunctioning tumor" EXACT [NCIT:C94760] xref: NCIT:C94760 {source="MONDO:equivalentTo"} xref: UMLS:C2986656 {source="NCIT:C94760", source="MONDO:equivalentTo"} is_a: MONDO:0002082 {source="MONDOLEX:0021119", source="NCIT:C94760"} ! endocrine gland neoplasm +intersection_of: MONDO:0002082 ! endocrine gland neoplasm +intersection_of: disease_has_feature NCIT:C45980 +intersection_of: realized_in GO:0046879 ! hormone secretion [Term] id: MONDO:0021120 @@ -378894,6 +384411,9 @@ xref: ICDO:8158/1 {source="NCIT:C94759"} xref: NCIT:C94759 {source="MONDO:equivalentTo"} xref: UMLS:C2986655 {source="NCIT:C94759", source="MONDO:equivalentTo"} is_a: MONDO:0002082 {source="MONDOLEX:0021120", source="NCIT:C94759"} ! endocrine gland neoplasm +intersection_of: MONDO:0002082 ! endocrine gland neoplasm +intersection_of: disease_has_feature NCIT:C45981 +intersection_of: realized_in GO:0046879 ! hormone secretion [Term] id: MONDO:0021121 @@ -378907,7 +384427,7 @@ xref: MESH:D006390 {source="MONDO:equivalentTo"} xref: NCIT:C3084 {source="MONDO:equivalentTo"} xref: SCTID:403980002 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0018915 {source="GARD:0006557", source="NCIT:C3084", source="MONDO:equivalentTo"} -is_a: MONDO:0021080 {source="NCIT:C3084"} ! blood vessel neoplasm +is_a: MONDO:0021080 {source="NCIT:C3084", source="linkedlifedata"} ! blood vessel neoplasm property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6557/hemangioendothelioma xsd:anyURI {source="GARD:0006557"} [Term] @@ -378936,9 +384456,11 @@ name: female infertility def: "Diminished or absent ability of a female to achieve conception." [MESH:D007247] synonym: "female infertility" EXACT [MESH:D007247] synonym: "female reproductive system infertility" EXACT [MONDO:patterns/location] +synonym: "female reproductive system infertility disorder" EXACT [MONDO:design_pattern] synonym: "female sterility" RELATED [MESH:D007247] synonym: "female sub-fertility" RELATED [MESH:D007247] synonym: "female subfertility" RELATED [MESH:D007247] +synonym: "infertility disorder of female reproductive system" EXACT [MONDO:design_pattern] synonym: "postpartum sterility" RELATED [MESH:D007247] synonym: "sterility, female" RELATED [MESH:D007247] synonym: "sterility, postpartum" RELATED [MESH:D007247] @@ -379032,7 +384554,7 @@ xref: SCTID:204110003 {source="DOID:10629"} xref: SCTID:268310007 {source="DOID:10629"} xref: SCTID:61142002 {source="DOID:10629", source="EFO:0005569"} xref: UMLS:C0026010 {source="DOID:10629", source="NCIT:C98989"} -is_a: MONDO:0005328 {source="DOID:10629", source="EFO:0005569", source="MESH:D008850/inferred", source="NCIT:C98989/inferred", source="linkedlifedata"} ! eye disease +is_a: MONDO:0005328 {source="DOID:10629", source="EFO:0005569", source="MESH:D008850/inferred", source="NCIT:C98989/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! eye disease [Term] id: MONDO:0021130 @@ -379048,6 +384570,7 @@ intersection_of: disease_has_basis_in_disruption_of GO:0030148 ! sphingolipid bi id: MONDO:0021131 name: frontal lobe ependymal tumor def: "An ependymal tumor affecting the frontal lobe of the brain." [NCIT:C131573] +synonym: "ependymal tumor of frontal lobe" EXACT [MONDO:design_pattern] synonym: "frontal lobe ependymal tumor" EXACT [MONDO:patterns/location, NCIT:C131573] xref: NCIT:C131573 {source="MONDO:equivalentTo"} xref: UMLS:C4330009 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -379164,7 +384687,7 @@ xref: MESH:D018326 {source="MONDO:equivalentTo"} xref: NCIT:C7058 {source="MONDO:equivalentTo"} xref: SCTID:399956005 {source="MONDO:kboom-pr-1.00/0.85/15.45", source="MONDO:equivalentTo"} xref: UMLS:C1302746 {source="NCIT:C7058", source="MONDO:equivalentTo"} -is_a: MONDO:0005070 {source="MONDO:Entailed", source="MONDOLEX:0021143", source="NCIT:C7058/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="MESH:D018326/inferred", source="MONDO:Entailed", source="MONDOLEX:0021143", source="NCIT:C7058/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! neoplasm (disease) is_a: MONDO:0021635 {source="MONDO:cjm"} ! neurocristopathy intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_arises_from_structure CL:0000148 ! melanocyte @@ -379189,13 +384712,14 @@ synonym: "disease of genitourinary system" EXACT [MONDO:patterns/location_top] synonym: "disorder of genitourinary system" RELATED [MONDO:patterns/location_top] synonym: "disorder of the genitourinary system" EXACT [] synonym: "genitourinary system disease" EXACT [MONDO:patterns/location] +synonym: "genitourinary system disease or disorder" EXACT [MONDO:design_pattern] synonym: "syndrome of the genitourinary system" RELATED [] synonym: "urogenital disease" RELATED [] synonym: "urogenital disorder" RELATED [] xref: ICD10:N00.N99 {source="MONDO:equivalentTo"} xref: SCTID:42030000 {source="MONDO:equivalentTo"} xref: UMLS:C0080276 {source="MONDO:equivalentTo"} -is_a: MONDO:0021199 {source="MONDO:metaclass"} ! disease by anatomical system +is_a: MONDO:0021199 {source="MONDO:metaclass", source="linkedlifedata"} ! disease by anatomical system intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0004122 ! genitourinary system @@ -379332,7 +384856,7 @@ xref: NCIT:C12399 {source="MONDO:equivalentTo"} xref: SCTID:237705001 {source="MONDO:kboom-pr-1.00/0.86/15.45", source="MONDO:equivalentTo"} xref: UMLS:C0342409 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0003381 {source="MESH:D000072659", source="MONDO:Entailed", source="linkedlifedata"} ! pituitary gland disease -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0000007 ! pituitary gland @@ -379344,8 +384868,8 @@ synonym: "gonorrhea of uterine cervix" EXACT [MONDO:cjm] xref: SCTID:237083000 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0812378 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002345 {source="linkedlifedata"} ! cervicitis (disease) -is_a: MONDO:0004277 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! gonorrhea -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0004277 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonorrhea +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_inflammation_site UBERON:0000002 ! uterine cervix intersection_of: realized_in_response_to_stimulus NCBITaxon:485 ! Neisseria gonorrhoeae @@ -379356,7 +384880,7 @@ name: gonococcal epididymo-orchitis xref: SCTID:236772009 {source="MONDO:kboom-pr-1.00/0.92/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0341782 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0004277 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! gonorrhea -is_a: MONDO:0004778 {source="MONDO:Entailed", source="MONDOLEX:0021158", source="OWLReasoner:2017", source="linkedlifedata"} ! epididymo-orchitis +is_a: MONDO:0004778 {source="MONDO:Entailed", source="MONDOLEX:0021158", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! epididymo-orchitis intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_inflammation_site UBERON:0000473 ! testis intersection_of: disease_has_inflammation_site UBERON:0001301 ! epididymis @@ -379369,7 +384893,7 @@ def: "An salpingitis caused by infection with Neisseria gonorrhoeae." [MONDO:pat xref: SCTID:237038001 {source="MONDO:kboom-pr-0.95/0.76/1.83", source="MONDO:equivalentTo"} xref: UMLS:C0341811 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0003619 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! salpingitis -is_a: MONDO:0004277 {source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata"} ! gonorrhea +is_a: MONDO:0004277 {source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata", source="linkedlifedata/inferred"} ! gonorrhea intersection_of: MONDO:0003619 ! salpingitis intersection_of: realized_in_response_to_stimulus NCBITaxon:485 ! Neisseria gonorrhoeae @@ -379380,7 +384904,7 @@ def: "An cystitis caused by infection with Neisseria gonorrhoeae." [MONDO:patter xref: SCTID:197848003 {source="MONDO:kboom-pr-1.00/0.91/29.66", source="MONDO:equivalentTo"} xref: UMLS:C0473230 {source="MONDO:equivalentTo"} is_a: MONDO:0004277 {source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata"} ! gonorrhea -is_a: MONDO:0006032 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! cystitis +is_a: MONDO:0006032 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! cystitis intersection_of: MONDO:0006032 ! cystitis intersection_of: realized_in_response_to_stimulus NCBITaxon:485 ! Neisseria gonorrhoeae @@ -379390,7 +384914,7 @@ name: gonococcal prostatitis xref: SCTID:197967000 {source="MONDO:kboom-pr-0.95/0.76/1.83", source="MONDO:equivalentTo"} xref: UMLS:C0341755 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0004277 {source="OWLReasoner:2017", source="linkedlifedata"} ! gonorrhea -is_a: MONDO:0005280 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! prostatitis (disease) +is_a: MONDO:0005280 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! prostatitis (disease) intersection_of: MONDO:0005280 ! prostatitis (disease) intersection_of: realized_in_response_to_stimulus NCBITaxon:485 ! Neisseria gonorrhoeae @@ -379427,7 +384951,7 @@ xref: ONCOTREE:KIDNEY {source="MONDO:equivalentTo"} xref: SCTID:126880001 {source="MONDO:kboom-pr-0.96/0.92/0.06", source="MONDO:equivalentTo"} xref: UMLS:C0022646 {source="ONCOTREE:KIDNEY"} xref: UMLS:C0022665 {source="NCIT:C3150"} -is_a: MONDO:0005240 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! kidney disease +is_a: MONDO:0005240 {source="MONDO:Entailed", source="NCIT:C3150", source="OWLReasoner:2017", source="linkedlifedata"} ! kidney disease is_a: MONDO:0021066 {source="MONDO:Entailed", source="NCIT:C3150/inferred", source="OWLReasoner:2017", source="linkedlifedata"} ! urinary system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0002113 ! kidney @@ -379440,7 +384964,7 @@ synonym: "prepuce of penis inflammation" EXACT [MONDO:patterns/inflammatory_dise synonym: "prepuce of penisitis" EXACT [MONDO:patterns/inflammatory_disease_by_site] xref: SCTID:44318002 {source="MONDO:kboom-pr-0.94/0.85/0.40", source="MONDO:equivalentTo"} xref: UMLS:C0235640 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001332 ! prepuce of penis @@ -379498,7 +385022,7 @@ xref: SCTID:26889001 {source="DOID:633", source="EFO:0000783"} xref: UMLS:C0027121 {source="NCIT:C27578"} xref: UMLS_CUI:C0027121 {source="DOID:633"} is_a: MONDO:0005336 {source="DOID:633", source="linkedlifedata"} ! myopathy -is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlife", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Entailed", source="OWLReasoner:2017", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0002385 ! muscle tissue relationship: disease_has_location UBERON:0000383 {source="EFO:0000784"} ! musculature of body @@ -379689,12 +385213,12 @@ xref: COHD:432867 {source="MONDO:equivalentTo"} xref: EFO:0003774 {source="MONDO:equivalentTo"} xref: HP:0003077 {source="MONDO:otherHierarchy"} xref: ICD10:E78.5 {source="MONDO:equivalentTo"} -xref: ICD9:272.4 {source="linkedlife"} +xref: ICD9:272.4 {source="linkedlifedata"} xref: MESH:D006949 {source="MONDO:equivalentTo"} xref: SCTID:55822004 {source="MONDO:equivalentTo"} xref: UMLS:C0020473 {source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} xref: UMLS:CN236649 {source="MEDGEN:kboom-pr87-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0005066 {source="NCIT:C34709"} ! metabolic disease +is_a: MONDO:0005066 {source="ICD10:E78.5/inferred", source="MESH:D006949/inferred", source="NCIT:C34709", source="linkedlifedata/inferred"} ! metabolic disease intersection_of: MONDO:0005066 ! metabolic disease intersection_of: disease_has_major_feature HP:0003077 ! Hyperlipidemia relationship: disease_disrupts GO:0006629 ! lipid metabolic process @@ -379751,6 +385275,7 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006281 ! DNA repair id: MONDO:0021191 name: malignant ependymoma def: "A malignant form of ependymoma." [MONDO:patterns/malignant] +synonym: "Ependymal neoplasm" EXACT [DOID:5074] synonym: "ependymal tumors" BROAD [DOID:5074] xref: DOID:5074 {source="MONDO:equivalentTo"} xref: NCIT:C6770 {source="MONDO:relatedTo", source="DOID:5074"} @@ -379856,7 +385381,7 @@ xref: DOID:7 {source="MONDO:equivalentTo"} xref: ICD9:796.4 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:362965005 {source="MONDO:equivalentTo"} xref: UMLS:C1285159 {source="MONDO:equivalentTo"} -is_a: MONDO:0000001 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018", source="linkedlife", source="linkedlifedata"} ! disease or disorder +is_a: MONDO:0000001 {source="DOID:7", source="MONDO:Entailed", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! disease or disorder [Term] id: MONDO:0021200 @@ -379881,7 +385406,7 @@ synonym: "skin infection" EXACT [NCIT:C35025] xref: NCIT:C35025 {source="MONDO:equivalentTo"} xref: SCTID:19824006 {source="MONDO:equivalentTo"} xref: UMLS:C0037278 {source="NCIT:C35025", source="MONDO:equivalentTo"} -is_a: MONDO:0005550 {source="MONDO:Redundant", source="NCIT:C35025/inferred", source="OWLReasoner:Elk-2018"} ! infectious disease +is_a: MONDO:0005550 {source="MONDO:Redundant", source="NCIT:C35025/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata/inferred"} ! infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_inflammation_site UBERON:0000014 ! zone of skin @@ -379905,7 +385430,7 @@ synonym: "secretory otitis media" EXACT [https://en.wikipedia.org/wiki/Otitis_me synonym: "SOM" EXACT ABBREVIATION [https://en.wikipedia.org/wiki/Otitis_media] xref: Orphanet:390766 {source="MONDO:equivalentTo"} xref: SCTID:80327007 {source="MONDO:equivalentTo"} -is_a: MONDO:0001212 {source="SCTID:80327007", source="linkedlifedata"} ! non-suppurative otitis media +is_a: MONDO:0001212 {source="linkedlifedata"} ! non-suppurative otitis media [Term] id: MONDO:0021204 @@ -379927,6 +385452,7 @@ synonym: "disease of ear" EXACT [MONDO:patterns/location_top] synonym: "disorder of ear" RELATED [MONDO:patterns/location_top] synonym: "Ear disease" EXACT [NCIT:C26757] synonym: "ear disease" EXACT [MONDO:patterns/location] +synonym: "ear disease or disorder" EXACT [MONDO:design_pattern] synonym: "Ear disorder" EXACT [NCIT:C26757] xref: COHD:378161 {source="MONDO:equivalentTo"} xref: ICD9:388.8 {source="i2s", source="MONDO:relatedTo"} @@ -379934,7 +385460,7 @@ xref: ICD9:388.9 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C26757 {source="MONDO:equivalentTo"} xref: SCTID:25906001 {source="MONDO:equivalentTo"} xref: UMLS:C0013447 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C26757", source="MONDO:equivalentTo"} -is_a: MONDO:0024623 {source="MONDO:cjm", source="linkedlife"} ! otorhinolaryngologic disease +is_a: MONDO:0024623 {source="MONDO:cjm", source="NCIT:C26757", source="linkedlifedata"} ! otorhinolaryngologic disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001690 ! ear @@ -379957,7 +385483,7 @@ name: Crohn jejunitis def: "An Crohn disease involving a pathogenic inflammatory response in the jejunum." [MONDO:patterns/specific_inflammatory_disease_by_site] xref: SCTID:91390005 {source="MONDO:equivalentTo"} xref: UMLS:C0267379 {source="MONDO:equivalentTo"} -is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! inflammatory disease +is_a: MONDO:0021166 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! inflammatory disease intersection_of: MONDO:0005011 ! Crohn disease intersection_of: disease_has_inflammation_site UBERON:0002115 ! jejunum @@ -380101,7 +385627,7 @@ synonym: "vestibulocochlear nerve tumor" EXACT [MONDO:patterns/neoplasm, NCIT:C5 xref: NCIT:C5120 {source="MONDO:equivalentTo"} xref: SCTID:387891008 {source="MONDO:equivalentTo"} xref: UMLS:C0346330 {source="NCIT:C5120", source="MONDO:equivalentTo"} -is_a: MONDO:0002633 {source="MONDO:Entailed", source="NCIT:C5120", source="OWLReasoner:Elk-2018-01-09"} ! cranial nerve neoplasm +is_a: MONDO:0002633 {source="MONDO:Entailed", source="NCIT:C5120", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! cranial nerve neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001648 ! vestibulocochlear nerve @@ -380451,7 +385977,7 @@ xref: EFO:0003871 {source="MONDO:equivalentTo"} xref: NCIT:C3416 {source="MONDO:equivalentTo"} xref: SCTID:126778001 {source="MONDO:equivalentTo"} xref: UMLS:C0040411 {source="NCIT:C3416"} -is_a: MONDO:0005586 {source="MONDO:Entailed", source="NCIT:C3416/inferred", source="OWLReasoner:Elk-2018-01-09"} ! head and neck neoplasm +is_a: MONDO:0005586 {source="MONDO:Entailed", source="NCIT:C3416/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata/inferred"} ! head and neck neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001723 ! tongue @@ -380468,7 +385994,7 @@ synonym: "tumor of the buccal mucosa" EXACT [NCIT:C4405] xref: NCIT:C4405 {source="MONDO:equivalentTo"} xref: SCTID:126802007 {source="MONDO:equivalentTo"} xref: UMLS:C0345563 {source="NCIT:C4405", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005586 {source="MONDO:Entailed", source="NCIT:C4405/inferred", source="OWLReasoner:Elk-2018-01-09"} ! head and neck neoplasm +is_a: MONDO:0005586 {source="MONDO:Entailed", source="NCIT:C4405/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata/inferred"} ! head and neck neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0006956 ! buccal mucosa @@ -380487,7 +386013,7 @@ xref: MESH:D013362 {source="MONDO:equivalentTo"} xref: NCIT:C3392 {source="MONDO:equivalentTo"} xref: SCTID:126790004 {source="MONDO:equivalentTo"} xref: UMLS:C0038554 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3392", source="MONDO:equivalentTo"} -is_a: MONDO:0021368 {source="MONDO:Entailed", source="NCIT:C3392", source="OWLReasoner:Elk-2018-01-09"} ! neoplasm of major salivary gland +is_a: MONDO:0021368 {source="MONDO:Entailed", source="NCIT:C3392", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of major salivary gland intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001832 ! sublingual gland @@ -380511,7 +386037,7 @@ xref: EFO:0003873 {source="MONDO:equivalentTo"} xref: NCIT:C3314 {source="MONDO:equivalentTo"} xref: SCTID:126788000 {source="MONDO:equivalentTo"} xref: UMLS:C0030581 {source="NCIT:C3314"} -is_a: MONDO:0021368 {source="MONDO:Entailed", source="NCIT:C3314", source="OWLReasoner:Elk-2018-01-09"} ! neoplasm of major salivary gland +is_a: MONDO:0021368 {source="MONDO:Entailed", source="NCIT:C3314", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of major salivary gland intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001831 ! parotid gland @@ -380530,7 +386056,7 @@ xref: MESH:D013365 {source="MONDO:equivalentTo"} xref: NCIT:C3393 {source="MONDO:equivalentTo"} xref: SCTID:254464000 {source="MONDO:equivalentTo"} xref: UMLS:C0038558 {source="NCIT:C3393", source="MONDO:equivalentTo"} -is_a: MONDO:0021368 {source="MONDO:Entailed", source="NCIT:C3393", source="OWLReasoner:Elk-2018-01-09"} ! neoplasm of major salivary gland +is_a: MONDO:0021368 {source="MONDO:Entailed", source="NCIT:C3393", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of major salivary gland intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001736 ! submandibular gland @@ -380549,7 +386075,7 @@ xref: EFO:0003868 {source="MONDO:equivalentTo"} xref: NCIT:C7606 {source="MONDO:equivalentTo"} xref: SCTID:235075007 {source="MONDO:equivalentTo"} xref: UMLS:C0026640 {source="NCIT:C7606", source="MONDO:equivalentTo"} -is_a: MONDO:0006858 {source="linkedlife", source="linkedlife/inferred"} ! mouth disease +is_a: MONDO:0006858 {source="NCIT:C7606/inferred", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000167 ! oral cavity @@ -380611,8 +386137,8 @@ synonym: "tumor of the Lip" EXACT [NCIT:C3191] xref: NCIT:C3191 {source="MONDO:equivalentTo"} xref: SCTID:126770008 {source="MONDO:equivalentTo"} xref: UMLS:C0023761 {source="NCIT:C3191"} -is_a: MONDO:0004748 {source="MONDO:Entailed", source="NCIT:C3191", source="OWLReasoner:Elk-2018-01-09"} ! lip disease -is_a: MONDO:0005586 {source="MONDO:Entailed", source="NCIT:C3191/inferred", source="OWLReasoner:Elk-2018-01-09"} ! head and neck neoplasm +is_a: MONDO:0004748 {source="MONDO:Entailed", source="NCIT:C3191", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! lip disease +is_a: MONDO:0005586 {source="MONDO:Entailed", source="NCIT:C3191/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata/inferred"} ! head and neck neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001833 ! lip @@ -380651,7 +386177,7 @@ xref: ICD9:239.5 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3012 {source="MONDO:equivalentTo"} xref: SCTID:123844007 {source="MONDO:equivalentTo"} xref: UMLS:C0014170 {source="NCIT:C3012"} -is_a: MONDO:0021353 {source="MONDO:Entailed", source="NCIT:C3012/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlife", source="linkedlife/inferred"} ! tumor of uterus +is_a: MONDO:0021353 {source="MONDO:Entailed", source="NCIT:C3012/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! tumor of uterus intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001295 ! endometrium @@ -380711,7 +386237,7 @@ synonym: "uterine corpus tumor" EXACT [NCIT:C6300] xref: NCIT:C6300 {source="MONDO:equivalentTo"} xref: SCTID:126909004 {source="MONDO:equivalentTo"} xref: UMLS:C1263777 {source="NCIT:C6300", source="MONDO:equivalentTo"} -is_a: MONDO:0021353 {source="MONDO:Entailed", source="NCIT:C6300", source="OWLReasoner:Elk-2018-01-09"} ! tumor of uterus +is_a: MONDO:0021353 {source="MONDO:Entailed", source="NCIT:C6300", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! tumor of uterus intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0009853 ! body of uterus @@ -380773,7 +386299,7 @@ xref: ONCOTREE:PROSTATE {source="MONDO:equivalentTo"} xref: UMLS:C0033572 {source="ONCOTREE:PROSTATE"} xref: UMLS:C0033578 {source="NCIT:C3343"} xref: UMLS:C0748012 {source="DOID:13206"} -is_a: MONDO:0003105 {source="MONDO:Entailed", source="NCIT:C3343", source="OWLReasoner:Elk-2018-01-09"} ! prostate disease +is_a: MONDO:0003105 {source="DOID:13206/inferred", source="MONDO:Entailed", source="NCIT:C3343", source="OWLReasoner:Elk-2018-01-09"} ! prostate disease is_a: MONDO:0006054 {source="MONDO:Entailed", source="NCIT:C3343/inferred", source="OWLReasoner:Elk-2018-01-10"} ! reproductive system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0002367 ! prostate gland @@ -380825,9 +386351,9 @@ synonym: "papilloma of the eyelid" EXACT [NCIT:C4061] xref: NCIT:C4061 {source="MONDO:equivalentTo"} xref: SCTID:314515006 {source="MONDO:equivalentTo"} xref: UMLS:C1142491 {source="NCIT:C4061", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002235 {source="MONDO:Redundant", source="NCIT:C4061/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! eyelid neoplasm +is_a: MONDO:0002235 {source="MONDO:Redundant", source="NCIT:C4061/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! eyelid neoplasm is_a: MONDO:0021454 {source="MONDO:Redundant", source="NCIT:C4061/inferred", source="OWLReasoner:Elk-2018-01-09"} ! benign neoplasm of eye -is_a: MONDO:0021605 {source="MONDO:Entailed", source="NCIT:C4061", source="OWLReasoner:Elk-2018-01-14"} ! benign eyelid neoplasm +is_a: MONDO:0021605 {source="MONDO:Entailed", source="NCIT:C4061", source="OWLReasoner:Elk-2018-01-14", source="linkedlifedata"} ! benign eyelid neoplasm intersection_of: MONDO:0002363 ! papilloma intersection_of: disease_has_location UBERON:0001711 ! eyelid @@ -380855,7 +386381,7 @@ synonym: "submandibular gland mucoepidermoid carcinoma" EXACT [MONDO:patterns/lo xref: NCIT:C5939 {source="MONDO:equivalentTo"} xref: SCTID:423424005 {source="MONDO:equivalentTo"} xref: UMLS:C1336524 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5939", source="MONDO:equivalentTo"} -is_a: MONDO:0004724 {source="MONDO:Entailed", source="MONDOLEX:0021279", source="NCIT:C5939", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! submandibular gland cancer +is_a: MONDO:0004724 {source="MONDO:Entailed", source="MONDOLEX:0021279", source="NCIT:C5939", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! submandibular gland cancer is_a: MONDO:0006286 {source="MONDO:Entailed", source="NCIT:C5939", source="OWLReasoner:Elk-2018-01-09"} ! major salivary gland mucoepidermoid carcinoma intersection_of: MONDO:0003036 ! mucoepidermoid carcinoma intersection_of: disease_has_location UBERON:0001736 ! submandibular gland @@ -380911,8 +386437,8 @@ xref: ICD9:186.9 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C6353 {source="MONDO:equivalentTo"} xref: SCTID:416769008 {source="MONDO:equivalentTo"} xref: UMLS:C1334154 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C6353"} -is_a: MONDO:0005447 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! testicular cancer -is_a: MONDO:0010108 {source="MONDO:Entailed", source="NCIT:C6353/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! testicular germ cell tumor +is_a: MONDO:0005447 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! testicular cancer +is_a: MONDO:0010108 {source="MONDO:Entailed", source="NCIT:C6353/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! testicular germ cell tumor intersection_of: MONDO:0003514 ! malignant teratoma intersection_of: disease_has_location UBERON:0000473 ! testis @@ -380956,7 +386482,7 @@ xref: ICD9:233.9 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4529 {source="MONDO:equivalentTo"} xref: SCTID:92782006 {source="MONDO:equivalentTo"} xref: UMLS:C0346267 {source="NCIT:C4529", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004647 {source="MONDO:Entailed", source="MONDOLEX:0021284", source="NCIT:C4529/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! in situ carcinoma +is_a: MONDO:0004647 {source="MONDO:Entailed", source="MONDOLEX:0021284", source="NCIT:C4529/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma is_a: MONDO:0006481 {source="MONDO:Entailed", source="MONDOLEX:0021284", source="NCIT:C4529/inferred", source="OWLReasoner:Elk-2018-01-09"} ! ureter carcinoma intersection_of: MONDO:0004647 ! in situ carcinoma intersection_of: disease_has_location UBERON:0000056 ! ureter @@ -380981,7 +386507,7 @@ xref: ICD9:233.9 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4531 {source="MONDO:equivalentTo"} xref: SCTID:92784007 {source="MONDO:equivalentTo"} xref: UMLS:C0346280 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4531", source="MONDO:equivalentTo"} -is_a: MONDO:0004647 {source="MONDO:Entailed", source="MONDOLEX:0021285", source="NCIT:C4531", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! in situ carcinoma +is_a: MONDO:0004647 {source="MONDO:Entailed", source="MONDOLEX:0021285", source="NCIT:C4531", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! in situ carcinoma is_a: MONDO:0021327 {source="MONDO:Entailed", source="MONDOLEX:0021285", source="NCIT:C4531/inferred", source="OWLReasoner:Elk-2018-01-09"} ! carcinoma of urethra intersection_of: MONDO:0004647 ! in situ carcinoma intersection_of: disease_has_location UBERON:0000057 ! urethra @@ -381006,7 +386532,7 @@ xref: NCIT:C4592 {source="MONDO:equivalentTo"} xref: SCTID:92584005 {source="MONDO:equivalentTo"} xref: UMLS:C0347103 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4592", source="MONDO:equivalentTo"} is_a: MONDO:0004357 {source="MONDO:Entailed", source="NCIT:C4592/inferred", source="OWLReasoner:Elk-2018-01-13"} ! carcinoma of supraglottis -is_a: MONDO:0004696 {source="MONDO:Entailed", source="NCIT:C4592/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlife", source="linkedlifedata"} ! larynx carcinoma in situ +is_a: MONDO:0004696 {source="MONDO:Entailed", source="NCIT:C4592/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! larynx carcinoma in situ is_a: MONDO:0021288 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! carcinoma in situ of hypopharynx intersection_of: MONDO:0004647 ! in situ carcinoma intersection_of: disease_has_location UBERON:0000388 ! epiglottis @@ -381292,7 +386818,7 @@ synonym: "small intestine adenoma" EXACT [MONDO:patterns/location] xref: NCIT:C5340 {source="MONDO:equivalentTo"} xref: SCTID:399422005 {source="MONDO:equivalentTo"} xref: UMLS:C1302392 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C5340", source="MONDO:equivalentTo"} -is_a: MONDO:0004251 {source="MONDO:Entailed", source="NCIT:C5340", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! small intestine neoplasm +is_a: MONDO:0004251 {source="MONDO:Entailed", source="NCIT:C5340", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! small intestine neoplasm is_a: MONDO:0006180 {source="MONDO:Entailed", source="NCIT:C5340", source="OWLReasoner:Elk-2018-01-09"} ! digestive system adenoma intersection_of: MONDO:0004972 ! adenoma intersection_of: disease_has_location UBERON:0002108 ! small intestine @@ -381322,7 +386848,7 @@ xref: ICD9:180.0 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C3553 {source="MONDO:equivalentTo"} xref: SCTID:372097009 {source="MONDO:equivalentTo"} xref: UMLS:C0153569 {source="NCIT:C3553"} -is_a: MONDO:0002974 {source="MONDO:Entailed", source="MONDOLEX:0021309", source="NCIT:C3553", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! cervical cancer +is_a: MONDO:0002974 {source="MONDO:Entailed", source="MONDOLEX:0021309", source="NCIT:C3553", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! cervical cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0000458 ! endocervix @@ -381387,7 +386913,7 @@ synonym: "malignant tumor of the adrenal cortex" EXACT [NCIT:C9327] xref: NCIT:C9327 {source="MONDO:equivalentTo"} xref: SCTID:371964008 {source="MONDO:equivalentTo"} xref: UMLS:C0346402 {source="NCIT:C9327"} -is_a: MONDO:0002817 {source="MONDO:Entailed", source="NCIT:C9327", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! adrenal gland cancer +is_a: MONDO:0002817 {source="MONDO:Entailed", source="NCIT:C9327", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! adrenal gland cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001235 ! adrenal cortex @@ -381540,7 +387066,7 @@ synonym: "meningeal tumors, malignant" EXACT [NCIT:C4628] xref: NCIT:C4628 {source="MONDO:equivalentTo"} xref: SCTID:363497007 {source="MONDO:equivalentTo"} xref: UMLS:C0348375 {source="NCIT:C4628", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002714 {source="MONDO:Entailed", source="NCIT:C4628", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! central nervous system cancer +is_a: MONDO:0002714 {source="MONDO:Entailed", source="NCIT:C4628", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! central nervous system cancer is_a: MONDO:0016743 {source="MONDO:Entailed", source="MONDOLEX:0021322", source="NCIT:C4628", source="OWLReasoner:Elk-2018-01-14", source="linkedlifedata"} ! tumor of meninges intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0010743 ! meningeal cluster @@ -381643,7 +387169,7 @@ xref: NCIT:C8395 {source="MONDO:equivalentTo"} xref: SCTID:254435009 {source="MONDO:equivalentTo"} xref: UMLS:C0345555 {source="NCIT:C8395", source="MONDO:equivalentTo"} is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C8395/inferred", source="OWLReasoner:Elk-2018-03-06"} ! head and neck carcinoma -is_a: MONDO:0004611 {source="MONDO:Entailed", source="MONDOLEX:0021329", source="NCIT:C8395", source="linkedlifedata"} ! soft palate cancer +is_a: MONDO:0004611 {source="MONDO:Entailed", source="MONDOLEX:0021329", source="NCIT:C8395", source="linkedlifedata", source="linkedlifedata/inferred"} ! soft palate cancer is_a: MONDO:0021345 {source="MONDO:Entailed", source="NCIT:C8395/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! carcinoma of pharynx intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001733 ! soft palate @@ -381662,7 +387188,7 @@ xref: EFO:1000460 {source="MONDO:equivalentTo"} xref: NCIT:C6791 {source="MONDO:equivalentTo"} xref: SCTID:254462001 {source="MONDO:equivalentTo"} xref: UMLS:C0345602 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C6791", source="MONDO:equivalentTo"} -is_a: MONDO:0004700 {source="MONDO:Entailed", source="NCIT:C6791", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! parotid gland cancer +is_a: MONDO:0004700 {source="MONDO:Entailed", source="NCIT:C6791", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! parotid gland cancer is_a: MONDO:0006284 {source="MONDO:Entailed", source="NCIT:C6791", source="OWLReasoner:Elk-2018-01-09"} ! major salivary gland carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0001831 ! parotid gland @@ -381695,7 +387221,7 @@ synonym: "duodenum carcinoma" EXACT [MONDO:patterns/location] xref: NCIT:C4803 {source="MONDO:equivalentTo"} xref: SCTID:254570009 {source="MONDO:equivalentTo"} xref: UMLS:C0541912 {source="NCIT:C4803"} -is_a: MONDO:0000920 {source="MONDO:Entailed", source="NCIT:C4803", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! duodenum cancer +is_a: MONDO:0000920 {source="MONDO:Entailed", source="NCIT:C4803", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! duodenum cancer is_a: MONDO:0005522 {source="MONDO:Entailed", source="NCIT:C4803", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! small intestine carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0002114 ! duodenum @@ -381713,7 +387239,7 @@ synonym: "tonsillar carcinoma" EXACT [NCIT:C4825] xref: NCIT:C4825 {source="MONDO:equivalentTo"} xref: SCTID:274085008 {source="MONDO:equivalentTo"} xref: UMLS:C0558355 {source="NCIT:C4825", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006998 {source="MONDO:Entailed", source="NCIT:C4825", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! tonsil cancer +is_a: MONDO:0006998 {source="MONDO:Entailed", source="NCIT:C4825", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! tonsil cancer is_a: MONDO:0021345 {source="MONDO:Entailed", source="NCIT:C4825/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! carcinoma of pharynx intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0002372 ! tonsil @@ -381729,7 +387255,7 @@ xref: NCIT:C8394 {source="MONDO:equivalentTo"} xref: SCTID:254434008 {source="MONDO:equivalentTo"} xref: UMLS:C0345550 {source="NCIT:C8394", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002038 {source="MONDO:Entailed", source="NCIT:C8394/inferred", source="OWLReasoner:Elk-2018-03-06"} ! head and neck carcinoma -is_a: MONDO:0004719 {source="MONDO:Entailed", source="MONDOLEX:0021339", source="NCIT:C8394", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! hard palate cancer +is_a: MONDO:0004719 {source="MONDO:Entailed", source="MONDOLEX:0021339", source="NCIT:C8394", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! hard palate cancer intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0003216 ! hard palate @@ -381807,8 +387333,8 @@ xref: ICD9:239.89 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3406 {source="MONDO:equivalentTo"} xref: SCTID:255058005 {source="MONDO:equivalentTo"} xref: UMLS:C0039981 {source="NCIT:C3406", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000651 {source="MONDO:Entailed", source="NCIT:C3406", source="OWLReasoner:Elk-2018-01-09"} ! thoracic disease -is_a: MONDO:0005070 {source="MONDO:Entailed", source="MONDOLEX:0021350", source="NCIT:C3406/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0000651 {source="MONDO:Entailed", source="NCIT:C3406", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic disease +is_a: MONDO:0005070 {source="MONDO:Entailed", source="MONDOLEX:0021350", source="NCIT:C3406/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000915 ! thoracic segment of trunk @@ -381919,7 +387445,7 @@ xref: NCIT:C3361 {source="MONDO:equivalentTo"} xref: SCTID:235132004 {source="MONDO:equivalentTo"} xref: UMLS:C0036095 {source="NCIT:C3361"} is_a: MONDO:0001142 {source="EFO:0003826", source="MONDO:Entailed", source="NCIT:C3361", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! salivary gland disease -is_a: MONDO:0005586 {source="EFO:0003826/inferred", source="MONDO:Entailed", source="NCIT:C3361", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! head and neck neoplasm +is_a: MONDO:0005586 {source="EFO:0003826/inferred", source="MONDO:Entailed", source="NCIT:C3361", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001044 ! saliva-secreting gland @@ -381939,7 +387465,7 @@ synonym: "tumor of the hypopharynx" EXACT [NCIT:C3127] xref: NCIT:C3127 {source="MONDO:equivalentTo"} xref: SCTID:126686005 {source="MONDO:equivalentTo"} xref: UMLS:C0020627 {source="NCIT:C3127"} -is_a: MONDO:0005087 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! respiratory system disease +is_a: MONDO:0005087 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system disease is_a: MONDO:0021246 {source="MONDO:Entailed", source="NCIT:C3127", source="OWLReasoner:Elk-2018-01-09"} ! pharynx neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001051 ! hypopharynx @@ -381983,8 +387509,8 @@ synonym: "tumor of the oropharynx" EXACT [NCIT:C3291] xref: NCIT:C3291 {source="MONDO:equivalentTo"} xref: SCTID:126809003 {source="MONDO:equivalentTo"} xref: UMLS:C0029295 {source="NCIT:C3291", source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004335 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! digestive system disease -is_a: MONDO:0005087 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! respiratory system disease +is_a: MONDO:0004335 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! digestive system disease +is_a: MONDO:0005087 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system disease is_a: MONDO:0021246 {source="MONDO:Entailed", source="NCIT:C3291", source="OWLReasoner:Elk-2018-01-09"} ! pharynx neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001729 ! oropharynx @@ -382005,7 +387531,7 @@ xref: ICD9:239.89 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4412 {source="MONDO:equivalentTo"} xref: SCTID:127006003 {source="MONDO:equivalentTo"} xref: UMLS:C0345617 {source="NCIT:C4412"} -is_a: MONDO:0003276 {source="MONDO:Entailed", source="NCIT:C4412", source="OWLReasoner:Elk-2018-01-09", source="linkedlife"} ! middle ear disease +is_a: MONDO:0003276 {source="MONDO:Entailed", source="NCIT:C4412", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! middle ear disease is_a: MONDO:0021233 {source="MONDO:Entailed", source="NCIT:C4412", source="OWLReasoner:Elk-2018-01-09"} ! ear neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001756 ! middle ear @@ -382203,7 +387729,7 @@ xref: ICD9:239.89 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4651 {source="MONDO:equivalentTo"} xref: SCTID:126734005 {source="MONDO:equivalentTo"} xref: UMLS:C0349574 {source="NCIT:C4651"} -is_a: MONDO:0021350 {source="MONDO:Entailed", source="NCIT:C4651/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of thorax +is_a: MONDO:0021350 {source="MONDO:Entailed", source="NCIT:C4651/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm of thorax intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0002407 ! pericardium @@ -382225,8 +387751,8 @@ synonym: "tumor of the floor of the mouth" EXACT [NCIT:C4401] xref: NCIT:C4401 {source="MONDO:equivalentTo"} xref: SCTID:126799003 {source="MONDO:equivalentTo"} xref: UMLS:C0345538 {source="NCIT:C4401", source="MONDO:equivalentTo"} -is_a: MONDO:0005586 {source="MONDO:Entailed", source="NCIT:C4401/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! head and neck neoplasm -is_a: MONDO:0006858 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! mouth disease +is_a: MONDO:0005586 {source="MONDO:Entailed", source="NCIT:C4401/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck neoplasm +is_a: MONDO:0006858 {source="MONDO:Entailed", source="NCIT:C4401/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0003679 ! mouth floor @@ -382324,7 +387850,7 @@ xref: NCIT:C4530 {source="MONDO:equivalentTo"} xref: SCTID:197821004 {source="MONDO:equivalentTo"} xref: UMLS:C0346269 {source="NCIT:C4530", source="MONDO:equivalentTo"} is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C4530", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! polyp -is_a: MONDO:0021111 {source="MONDO:Entailed", source="NCIT:C4530/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! ureter neoplasm +is_a: MONDO:0021111 {source="MONDO:Entailed", source="NCIT:C4530/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! ureter neoplasm intersection_of: MONDO:0005079 ! polyp intersection_of: disease_has_location UBERON:0000056 ! ureter @@ -382341,7 +387867,7 @@ synonym: "polyp of the large intestine" EXACT [NCIT:C5679] xref: NCIT:C5679 {source="MONDO:equivalentTo"} xref: SCTID:399505005 {source="MONDO:equivalentTo"} xref: UMLS:C0949059 {source="NCIT:C5679", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C5679/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! polyp +is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C5679/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp intersection_of: MONDO:0005079 ! polyp intersection_of: disease_has_location UBERON:0000059 ! large intestine @@ -382421,7 +387947,7 @@ xref: NCIT:C4366 {source="MONDO:equivalentTo"} xref: SCTID:95211004 {source="MONDO:equivalentTo"} xref: UMLS:C0339765 {source="NCIT:C4366", source="MONDO:equivalentTo"} is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C4366/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! polyp -is_a: MONDO:0021235 {source="MONDO:Entailed", source="NCIT:C4366/inferred", source="OWLReasoner:Elk-2018-01-09"} ! external ear neoplasm +is_a: MONDO:0021235 {source="MONDO:Entailed", source="NCIT:C4366/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata/inferred"} ! external ear neoplasm intersection_of: MONDO:0005079 ! polyp intersection_of: disease_has_location UBERON:0001352 ! external acoustic meatus @@ -382438,7 +387964,7 @@ xref: ICD9:471.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3933 {source="MONDO:equivalentTo"} xref: SCTID:90685008 {source="MONDO:equivalentTo"} xref: UMLS:C0264255 {source="NCIT:C3933", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C3933/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! polyp +is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C3933/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp intersection_of: MONDO:0005079 ! polyp intersection_of: disease_has_location UBERON:0001724 ! sphenoidal sinus @@ -382452,7 +387978,7 @@ xref: ICD9:471.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4367 {source="MONDO:equivalentTo"} xref: SCTID:195759002 {source="MONDO:equivalentTo"} xref: UMLS:C0339814 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4367", source="MONDO:equivalentTo"} -is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C4367/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! polyp +is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C4367/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp intersection_of: MONDO:0005079 ! polyp intersection_of: disease_has_location UBERON:0001760 ! frontal sinus @@ -382467,7 +387993,7 @@ xref: ICD9:471.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3931 {source="MONDO:equivalentTo"} xref: SCTID:29074008 {source="MONDO:equivalentTo"} xref: UMLS:C0264239 {source="NCIT:C3931", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C3931/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! polyp +is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C3931/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp intersection_of: MONDO:0005079 ! polyp intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus @@ -382499,7 +388025,7 @@ xref: ICD9:471.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3932 {source="MONDO:equivalentTo"} xref: SCTID:23966000 {source="MONDO:equivalentTo"} xref: UMLS:C0264248 {source="NCIT:C3932", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C3932/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! polyp +is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C3932/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp intersection_of: MONDO:0005079 ! polyp intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus @@ -382513,7 +388039,7 @@ synonym: "vocal cord polyp" EXACT [NCIT:C3440] xref: NCIT:C3440 {source="MONDO:equivalentTo"} xref: SCTID:9078005 {source="MONDO:equivalentTo"} xref: UMLS:C0042929 {source="NCIT:C3440", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C3440", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! polyp +is_a: MONDO:0005079 {source="MONDO:Entailed", source="NCIT:C3440", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! polyp intersection_of: MONDO:0005079 ! polyp intersection_of: disease_has_location UBERON:0003706 ! laryngeal vocal fold @@ -382566,7 +388092,7 @@ synonym: "squamous cell carcinoma of the floor of mouth" EXACT [NCIT:C4041] xref: NCIT:C4041 {source="MONDO:equivalentTo"} xref: SCTID:276954004 {source="MONDO:equivalentTo"} xref: UMLS:C0280300 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4041", source="MONDO:equivalentTo"} -is_a: MONDO:0004958 {source="MONDO:Entailed", source="NCIT:C4041", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! oral cavity squamous cell carcinoma +is_a: MONDO:0004958 {source="MONDO:Entailed", source="NCIT:C4041", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! oral cavity squamous cell carcinoma is_a: MONDO:0021343 {source="MONDO:Entailed", source="MONDOLEX:0021429", source="NCIT:C4041", source="OWLReasoner:Elk-2018-01-09"} ! carcinoma of floor of mouth intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0003679 ! mouth floor @@ -382583,7 +388109,7 @@ xref: NCIT:C4040 {source="MONDO:equivalentTo"} xref: SCTID:254437001 {source="MONDO:equivalentTo"} xref: UMLS:C0280299 {source="NCIT:C4040", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0004645 {source="MONDO:Entailed", source="NCIT:C4040", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! cheek mucosa cancer -is_a: MONDO:0004958 {source="MONDO:Entailed", source="NCIT:C4040", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! oral cavity squamous cell carcinoma +is_a: MONDO:0004958 {source="MONDO:Entailed", source="NCIT:C4040", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! oral cavity squamous cell carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0006956 ! buccal mucosa @@ -382625,8 +388151,8 @@ xref: NCIT:C4782 {source="MONDO:equivalentTo"} xref: SCTID:92296004 {source="MONDO:equivalentTo"} xref: UMLS:C0496901 {source="NCIT:C4782", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000627 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign endocrine neoplasm -is_a: MONDO:0003381 {source="MONDO:Entailed", source="NCIT:C4782/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! pituitary gland disease -is_a: MONDO:0021451 {source="MONDO:Entailed", source="NCIT:C4782/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of brain +is_a: MONDO:0003381 {source="MONDO:Entailed", source="NCIT:C4782/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! pituitary gland disease +is_a: MONDO:0021451 {source="MONDO:Entailed", source="NCIT:C4782/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of brain intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000007 ! pituitary gland @@ -382686,7 +388212,7 @@ xref: ICD9:229.0 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C3636 {source="MONDO:equivalentTo"} xref: SCTID:92197001 {source="MONDO:equivalentTo"} xref: UMLS:C0154054 {source="NCIT:C3636", source="MONDO:equivalentTo"} -is_a: MONDO:0004928 {source="MONDO:Redundant", source="NCIT:C3636/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlife", source="linkedlifedata"} ! lymph node disease +is_a: MONDO:0004928 {source="MONDO:Redundant", source="NCIT:C3636/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! lymph node disease intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000029 ! lymph node @@ -382717,7 +388243,7 @@ synonym: "tumors, colorectal, benign" EXACT [NCIT:C4610] xref: NCIT:C4610 {source="MONDO:equivalentTo"} xref: SCTID:92170008 {source="MONDO:equivalentTo"} xref: UMLS:C0347272 {source="NCIT:C4610", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003062 {source="MONDO:Entailed", source="MONDOLEX:0021444", source="NCIT:C4610", source="OWLReasoner:Elk-2018-01-09"} ! intestinal benign neoplasm +is_a: MONDO:0003062 {source="MONDO:Entailed", source="MONDOLEX:0021444", source="NCIT:C4610", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! intestinal benign neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000059 ! large intestine @@ -382741,7 +388267,7 @@ xref: ICD9:210.4 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C7607 {source="MONDO:equivalentTo"} xref: SCTID:419645003 {source="MONDO:equivalentTo"} xref: UMLS:C0347197 {source="NCIT:C7607", source="MONDO:equivalentTo"} -is_a: MONDO:0021245 {source="MONDO:Entailed", source="NCIT:C7607", source="OWLReasoner:Elk-2018-01-09", source="linkedlife"} ! oral cavity neoplasm +is_a: MONDO:0021245 {source="MONDO:Entailed", source="NCIT:C7607", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! oral cavity neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000167 ! oral cavity @@ -382760,7 +388286,7 @@ synonym: "epiglottis benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4606 {source="MONDO:equivalentTo"} xref: SCTID:92089006 {source="MONDO:equivalentTo"} xref: UMLS:C0347236 {source="NCIT:C4606", source="MONDO:equivalentTo"} -is_a: MONDO:0002354 {source="MONDO:Entailed", source="NCIT:C4606/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlife", source="linkedlifedata"} ! benign laryngeal neoplasm +is_a: MONDO:0002354 {source="MONDO:Entailed", source="NCIT:C4606/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign laryngeal neoplasm is_a: MONDO:0004109 {source="MONDO:Entailed", source="NCIT:C4606", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! epiglottis neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000388 ! epiglottis @@ -382829,7 +388355,7 @@ xref: ICD9:212.7 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C3605 {source="MONDO:equivalentTo"} xref: SCTID:92132009 {source="MONDO:equivalentTo"} xref: UMLS:C0153957 {source="NCIT:C3605", source="MONDO:equivalentTo"} -is_a: MONDO:0000634 {source="MONDO:Entailed", source="NCIT:C3605", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! thoracic benign neoplasm +is_a: MONDO:0000634 {source="MONDO:Entailed", source="NCIT:C3605", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic benign neoplasm is_a: MONDO:0021209 {source="MONDO:Entailed", source="NCIT:C3605", source="OWLReasoner:Elk-2018-01-09"} ! heart neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000948 ! heart @@ -382949,7 +388475,7 @@ synonym: "sternum benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C8416 {source="MONDO:equivalentTo"} xref: SCTID:92410006 {source="MONDO:equivalentTo"} xref: UMLS:C0347312 {source="NCIT:C8416", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000634 {source="MONDO:Entailed", source="NCIT:C8416", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! thoracic benign neoplasm +is_a: MONDO:0000634 {source="MONDO:Entailed", source="NCIT:C8416", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic benign neoplasm is_a: MONDO:0021578 {source="MONDO:Entailed", source="NCIT:C8416", source="OWLReasoner:Elk-2018-01-13", source="linkedlifedata"} ! sternal neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000975 ! sternum @@ -382969,7 +388495,7 @@ xref: NCIT:C3603 {source="MONDO:equivalentTo"} xref: SCTID:92298003 {source="MONDO:equivalentTo"} xref: UMLS:C0153955 {source="NCIT:C3603", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! respiratory system benign neoplasm -is_a: MONDO:0002037 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! pleural disease +is_a: MONDO:0002037 {source="MONDO:Redundant", source="NCIT:C3603/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! pleural disease is_a: MONDO:0021065 {source="MONDO:Entailed", source="MONDOLEX:0021457", source="NCIT:C3603", source="OWLReasoner:Elk-2018-01-13", source="linkedlifedata"} ! pleural neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000977 ! pleura @@ -382989,7 +388515,7 @@ xref: ICD9:222.1 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C3489 {source="MONDO:equivalentTo"} xref: SCTID:92286008 {source="MONDO:equivalentTo"} xref: UMLS:C0149627 {source="NCIT:C3489", source="MONDO:equivalentTo"} -is_a: MONDO:0002036 {source="MONDO:Redundant", source="NCIT:C3489/inferred", source="OWLReasoner:Elk-2018-01-09"} ! penile disease +is_a: MONDO:0002036 {source="MONDO:Redundant", source="NCIT:C3489/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata/inferred"} ! penile disease is_a: MONDO:0006895 {source="MONDO:Entailed", source="NCIT:C3489", source="OWLReasoner:Elk-2018-01-10", source="linkedlifedata"} ! penile neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0000989 ! penis @@ -383050,7 +388576,7 @@ xref: ICD9:210.8 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C3596 {source="MONDO:equivalentTo"} xref: SCTID:92139000 {source="MONDO:equivalentTo"} xref: UMLS:C0153939 {source="NCIT:C3596", source="MONDO:equivalentTo"} -is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! respiratory system benign neoplasm +is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm is_a: MONDO:0021358 {source="MONDO:Entailed", source="MONDOLEX:0021461", source="NCIT:C3596", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of hypopharynx is_a: MONDO:0021523 {source="MONDO:Entailed", source="MONDOLEX:0021461", source="NCIT:C3596", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of pharynx intersection_of: MONDO:0005165 ! benign neoplasm @@ -383240,8 +388766,8 @@ xref: NCIT:C4894 {source="MONDO:equivalentTo"} xref: SCTID:92086004 {source="MONDO:equivalentTo"} xref: UMLS:C0686239 {source="NCIT:C4894", source="MONDO:equivalentTo"} is_a: MONDO:0000383 {source="MONDO:Redundant", source="NCIT:C4894/inferred", source="OWLReasoner:Elk-2018-01-09"} ! benign reproductive system neoplasm -is_a: MONDO:0000632 {source="MONDO:Entailed", source="NCIT:C4894/inferred", source="OWLReasoner:Elk-2018-01-14", source="linkedlifedata"} ! uterine benign neoplasm -is_a: MONDO:0021251 {source="MONDO:Entailed", source="NCIT:C4894", source="OWLReasoner:Elk-2018-01-09", source="linkedlife"} ! endometrium neoplasm +is_a: MONDO:0000632 {source="MONDO:Entailed", source="NCIT:C4894/inferred", source="OWLReasoner:Elk-2018-01-14", source="linkedlifedata", source="linkedlifedata/inferred"} ! uterine benign neoplasm +is_a: MONDO:0021251 {source="MONDO:Entailed", source="NCIT:C4894", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! endometrium neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001295 ! endometrium @@ -383314,7 +388840,7 @@ xref: ICD9:212.0 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4603 {source="MONDO:equivalentTo"} xref: SCTID:92241005 {source="MONDO:equivalentTo"} xref: UMLS:C0347215 {source="NCIT:C4603", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! respiratory system benign neoplasm +is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm is_a: MONDO:0004756 {source="MONDO:Entailed", source="NCIT:C4603", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! nasal cavity neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001707 ! nasal cavity @@ -383335,7 +388861,7 @@ xref: ICD9:210.1 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C3592 {source="MONDO:equivalentTo"} xref: SCTID:92443005 {source="MONDO:equivalentTo"} xref: UMLS:C0153933 {source="MONDO:equivalentTo", source="NCIT:C3592"} -is_a: MONDO:0021240 {source="MONDO:Entailed", source="NCIT:C3592", source="OWLReasoner:Elk-2018-01-09"} ! tongue neoplasm +is_a: MONDO:0021240 {source="MONDO:Entailed", source="NCIT:C3592", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! tongue neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001723 ! tongue @@ -383359,7 +388885,7 @@ xref: ICD9:212.0 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4422 {source="MONDO:equivalentTo"} xref: SCTID:92404006 {source="MONDO:equivalentTo"} xref: UMLS:C0345678 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4422", source="MONDO:equivalentTo"} -is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! respiratory system benign neoplasm +is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm is_a: MONDO:0004047 {source="MONDO:Entailed", source="NCIT:C4422", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! sphenoidal sinus neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001724 ! sphenoidal sinus @@ -383380,7 +388906,7 @@ xref: ICD9:210.7 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C3595 {source="MONDO:equivalentTo"} xref: SCTID:188800003 {source="MONDO:equivalentTo"} xref: UMLS:C0153938 {source="NCIT:C3595", source="MEDGEN:kboom-pr94-c94", source="MONDO:equivalentTo"} -is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! respiratory system benign neoplasm +is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm is_a: MONDO:0005375 {source="MONDO:Entailed", source="MONDOLEX:0021478", source="NCIT:C3595", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! nasopharyngeal neoplasm is_a: MONDO:0021523 {source="MONDO:Entailed", source="MONDOLEX:0021478", source="NCIT:C3595", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of pharynx intersection_of: MONDO:0005165 ! benign neoplasm @@ -383402,7 +388928,7 @@ xref: NCIT:C4604 {source="MONDO:equivalentTo"} xref: SCTID:92259008 {source="MONDO:equivalentTo"} xref: UMLS:C0347228 {source="NCIT:C4604"} xref: UMLS:C0347229 {source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! respiratory system benign neoplasm +is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm is_a: MONDO:0021364 {source="MONDO:Entailed", source="MONDOLEX:0021479", source="NCIT:C4604", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of oropharynx is_a: MONDO:0021523 {source="MONDO:Entailed", source="MONDOLEX:0021479", source="NCIT:C4604", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of pharynx intersection_of: MONDO:0005165 ! benign neoplasm @@ -383422,8 +388948,8 @@ xref: ICD9:210.4 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4404 {source="MONDO:equivalentTo"} xref: SCTID:92386006 {source="MONDO:equivalentTo"} xref: UMLS:C0345557 {source="NCIT:C4404", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4404/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! head and neck neoplasm -is_a: MONDO:0006858 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! mouth disease +is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4404/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck neoplasm +is_a: MONDO:0006858 {source="MONDO:Redundant", source="NCIT:C4404/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001733 ! soft palate @@ -383440,7 +388966,7 @@ synonym: "submandibular gland benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4891 {source="MONDO:equivalentTo"} xref: SCTID:92415001 {source="MONDO:equivalentTo"} xref: UMLS:C0685988 {source="MONDO:equivalentTo", source="NCIT:C4891"} -is_a: MONDO:0021244 {source="MONDO:Entailed", source="NCIT:C4891", source="OWLReasoner:Elk-2018-01-09"} ! submandibular gland neoplasm +is_a: MONDO:0021244 {source="MONDO:Entailed", source="NCIT:C4891", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! submandibular gland neoplasm is_a: MONDO:0021492 {source="MONDO:Entailed", source="NCIT:C4891", source="OWLReasoner:Elk-2018-01-09"} ! benign neoplasm of major salivary gland intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001736 ! submandibular gland @@ -383478,7 +389004,7 @@ xref: ICD9:212.0 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4420 {source="MONDO:equivalentTo"} xref: SCTID:92115005 {source="MONDO:equivalentTo"} xref: UMLS:C0345674 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4420", source="MONDO:equivalentTo"} -is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! respiratory system benign neoplasm +is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm is_a: MONDO:0001757 {source="MONDO:Entailed", source="NCIT:C4420", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! frontal sinus neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001760 ! frontal sinus @@ -383509,7 +389035,7 @@ xref: ICD9:212.0 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4414 {source="MONDO:equivalentTo"} xref: SCTID:92211008 {source="MONDO:equivalentTo"} xref: UMLS:C0345666 {source="NCIT:C4414", source="MONDO:equivalentTo"} -is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! respiratory system benign neoplasm +is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm is_a: MONDO:0006850 {source="MONDO:Entailed", source="NCIT:C4414", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! maxillary sinus neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001764 ! maxillary sinus @@ -383529,7 +389055,7 @@ xref: NCIT:C4555 {source="MONDO:equivalentTo"} xref: SCTID:189151003 {source="MONDO:equivalentTo"} xref: UMLS:C0346374 {source="NCIT:C4555", source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} is_a: MONDO:0021224 {source="MONDO:Entailed", source="NCIT:C4555", source="OWLReasoner:Elk-2018-01-09"} ! iris neoplasm -is_a: MONDO:0021454 {source="MONDO:Entailed", source="NCIT:C4555/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlife", source="linkedlifedata"} ! benign neoplasm of eye +is_a: MONDO:0021454 {source="MONDO:Entailed", source="NCIT:C4555/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of eye intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001769 ! iris @@ -383566,7 +389092,7 @@ xref: NCIT:C3625 {source="MONDO:equivalentTo"} xref: SCTID:92059004 {source="MONDO:equivalentTo"} xref: UMLS:C0154028 {source="NCIT:C3625", source="MONDO:equivalentTo"} is_a: MONDO:0021258 {source="MONDO:Entailed", source="NCIT:C3625", source="OWLReasoner:Elk-2018-01-09"} ! choroid neoplasm -is_a: MONDO:0021454 {source="MONDO:Entailed", source="NCIT:C3625/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlife", source="linkedlifedata"} ! benign neoplasm of eye +is_a: MONDO:0021454 {source="MONDO:Entailed", source="NCIT:C3625/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of eye intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001776 ! optic choroid @@ -383712,7 +389238,7 @@ xref: ICD10:D11.0 {source="MONDO:equivalentTo"} xref: NCIT:C4770 {source="MONDO:equivalentTo"} xref: SCTID:92279000 {source="MONDO:equivalentTo"} xref: UMLS:C0496857 {source="MONDO:equivalentTo", source="NCIT:C4770"} -is_a: MONDO:0021243 {source="MONDO:Entailed", source="NCIT:C4770", source="OWLReasoner:Elk-2018-01-09"} ! parotid gland neoplasm +is_a: MONDO:0021243 {source="MONDO:Entailed", source="NCIT:C4770", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! parotid gland neoplasm is_a: MONDO:0021492 {source="MONDO:Entailed", source="NCIT:C4770", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of major salivary gland intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001831 ! parotid gland @@ -383730,7 +389256,7 @@ synonym: "sublingual gland benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4601 {source="MONDO:equivalentTo"} xref: SCTID:92413008 {source="MONDO:equivalentTo"} xref: UMLS:C0347208 {source="NCIT:C4601", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0021242 {source="MONDO:Entailed", source="NCIT:C4601", source="OWLReasoner:Elk-2018-01-09"} ! sublingual gland neoplasm +is_a: MONDO:0021242 {source="MONDO:Entailed", source="NCIT:C4601", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! sublingual gland neoplasm is_a: MONDO:0021492 {source="MONDO:Entailed", source="NCIT:C4601", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of major salivary gland intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001832 ! sublingual gland @@ -383751,7 +389277,7 @@ xref: ICD9:210.0 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C3591 {source="MONDO:equivalentTo"} xref: SCTID:92185002 {source="MONDO:equivalentTo"} xref: UMLS:C0153932 {source="NCIT:C3591", source="MONDO:equivalentTo"} -is_a: MONDO:0021249 {source="MONDO:Entailed", source="NCIT:C3591", source="OWLReasoner:Elk-2018-01-09"} ! lip neoplasm +is_a: MONDO:0021249 {source="MONDO:Entailed", source="NCIT:C3591", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! lip neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001833 ! lip @@ -383774,7 +389300,7 @@ synonym: "telencephalon benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C8548 {source="MONDO:equivalentTo"} xref: SCTID:275269004 {source="MONDO:equivalentTo"} xref: UMLS:C0686378 {source="NCIT:C8548", source="MONDO:equivalentTo"} -is_a: MONDO:0021374 {source="MONDO:Entailed", source="NCIT:C8548", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of cerebral hemisphere +is_a: MONDO:0021374 {source="MONDO:Entailed", source="NCIT:C8548", source="NCIT:C8548/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of cerebral hemisphere is_a: MONDO:0021451 {source="MONDO:Entailed", source="NCIT:C8548/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of brain intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001893 ! telencephalon @@ -383853,7 +389379,7 @@ xref: ICD9:211.2 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C3600 {source="MONDO:equivalentTo"} xref: SCTID:92385005 {source="MONDO:equivalentTo"} xref: UMLS:C0153944 {source="NCIT:C3600", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003062 {source="MONDO:Entailed", source="MONDOLEX:0021501", source="NCIT:C3600", source="OWLReasoner:Elk-2018-01-09"} ! intestinal benign neoplasm +is_a: MONDO:0003062 {source="MONDO:Entailed", source="MONDOLEX:0021501", source="NCIT:C3600", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! intestinal benign neoplasm is_a: MONDO:0004251 {source="MONDO:Entailed", source="MONDOLEX:0021501", source="NCIT:C3600", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! small intestine neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002108 ! small intestine @@ -383892,7 +389418,7 @@ xref: NCIT:C4608 {source="MONDO:equivalentTo"} xref: SCTID:92083007 {source="MONDO:equivalentTo"} xref: UMLS:C0347254 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4608", source="MONDO:equivalentTo"} is_a: MONDO:0021378 {source="MONDO:Entailed", source="NCIT:C4608", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of endocardium -is_a: MONDO:0021450 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of heart +is_a: MONDO:0021450 {source="MONDO:Entailed", source="NCIT:C4608", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of heart intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002165 ! endocardium @@ -383961,7 +389487,7 @@ xref: NCIT:C8535 {source="MONDO:equivalentTo"} xref: SCTID:92087008 {source="MONDO:equivalentTo"} xref: UMLS:C0685115 {source="NCIT:C8535", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0021379 {source="MONDO:Entailed", source="NCIT:C8535", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of epicardium -is_a: MONDO:0021450 {source="MONDO:Entailed", source="NCIT:C8535", source="OWLReasoner:Elk-2018-01-09", source="linkedlife", source="linkedlifedata"} ! benign neoplasm of heart +is_a: MONDO:0021450 {source="MONDO:Entailed", source="NCIT:C8535", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of heart is_a: MONDO:0021514 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of pericardium intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002348 ! epicardium @@ -384064,9 +389590,9 @@ xref: ICD9:210.5 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C3594 {source="MONDO:equivalentTo"} xref: SCTID:92263001 {source="MONDO:equivalentTo"} xref: UMLS:C0153936 {source="NCIT:C3594", source="MONDO:equivalentTo"} -is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! respiratory system benign neoplasm -is_a: MONDO:0021250 {source="MONDO:Entailed", source="NCIT:C3594", source="OWLReasoner:Elk-2018-01-09"} ! tonsil neoplasm -is_a: MONDO:0021523 {source="MONDO:Entailed", source="NCIT:C3594/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! benign neoplasm of pharynx +is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm +is_a: MONDO:0021250 {source="MONDO:Entailed", source="NCIT:C3594", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! tonsil neoplasm +is_a: MONDO:0021523 {source="MONDO:Entailed", source="NCIT:C3594/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! benign neoplasm of pharynx intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002372 ! tonsil @@ -384083,7 +389609,7 @@ synonym: "pericardium benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C8536 {source="MONDO:equivalentTo"} xref: SCTID:92289001 {source="MONDO:equivalentTo"} xref: UMLS:C0685118 {source="NCIT:C8536", source="MONDO:equivalentTo"} -is_a: MONDO:0000634 {source="MONDO:Entailed", source="NCIT:C8536/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! thoracic benign neoplasm +is_a: MONDO:0000634 {source="MONDO:Entailed", source="NCIT:C8536", source="NCIT:C8536/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic benign neoplasm is_a: MONDO:0021381 {source="MONDO:Entailed", source="NCIT:C8536", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! neoplasm of pericardium intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002407 ! pericardium @@ -384108,7 +389634,7 @@ xref: ICD9:212.0 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4417 {source="MONDO:equivalentTo"} xref: SCTID:92093000 {source="MONDO:equivalentTo"} xref: UMLS:C0345670 {source="NCIT:C4417", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! respiratory system benign neoplasm +is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm is_a: MONDO:0001764 {source="MONDO:Entailed", source="NCIT:C4417", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! ethmoidal sinus neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0002453 ! ethmoid sinus @@ -384148,7 +389674,7 @@ xref: ICD9:212.2 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C3602 {source="MONDO:equivalentTo"} xref: SCTID:92446002 {source="MONDO:equivalentTo"} xref: UMLS:C0153953 {source="NCIT:C3602", source="MONDO:equivalentTo"} -is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! respiratory system benign neoplasm +is_a: MONDO:0000382 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! respiratory system benign neoplasm is_a: MONDO:0021210 {source="MONDO:Entailed", source="MONDOLEX:0021517", source="NCIT:C3602", source="OWLReasoner:Elk-2018-01-09"} ! trachea neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0003126 ! trachea @@ -384167,8 +389693,8 @@ xref: ICD9:210.4 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4403 {source="MONDO:equivalentTo"} xref: SCTID:92129006 {source="MONDO:equivalentTo"} xref: UMLS:C0345552 {source="NCIT:C4403", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4403/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! head and neck neoplasm -is_a: MONDO:0006858 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! mouth disease +is_a: MONDO:0005586 {source="MONDO:Redundant", source="NCIT:C4403/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck neoplasm +is_a: MONDO:0006858 {source="MONDO:Redundant", source="NCIT:C4403/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! mouth disease intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0003216 ! hard palate @@ -384224,9 +389750,9 @@ xref: ICD9:213.1 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C34417 {source="MONDO:equivalentTo"} xref: SCTID:92208007 {source="MONDO:equivalentTo"} xref: UMLS:C0004994 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C34417", source="MONDO:equivalentTo"} -is_a: MONDO:0005381 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! bone disease -is_a: MONDO:0005586 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! head and neck neoplasm -is_a: MONDO:0021580 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-13", source="linkedlifedata"} ! neoplasm of jaw +is_a: MONDO:0005381 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone disease +is_a: MONDO:0005586 {source="MONDO:Redundant", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck neoplasm +is_a: MONDO:0021580 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-13", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm of jaw intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0004768 ! bone of lower jaw @@ -384265,7 +389791,7 @@ xref: ICD9:210.4 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4406 {source="MONDO:equivalentTo"} xref: SCTID:92039003 {source="MONDO:equivalentTo"} xref: UMLS:C0345566 {source="NCIT:C4406", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0021241 {source="MONDO:Entailed", source="NCIT:C4406", source="OWLReasoner:Elk-2018-01-09"} ! buccal mucosa neoplasm +is_a: MONDO:0021241 {source="MONDO:Entailed", source="NCIT:C4406", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! buccal mucosa neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0006956 ! buccal mucosa @@ -384301,7 +389827,7 @@ xref: SCTID:92021007 {source="MONDO:equivalentTo"} xref: UMLS:C0153998 {source="MONDO:equivalentTo", source="NCIT:C3608"} is_a: MONDO:0000383 {source="MONDO:Redundant", source="NCIT:C3608/inferred", source="OWLReasoner:Elk-2018-01-09"} ! benign reproductive system neoplasm is_a: MONDO:0000632 {source="MONDO:Entailed", source="MONDOLEX:0021525", source="NCIT:C3608", source="OWLReasoner:Elk-2018-01-14", source="linkedlifedata"} ! uterine benign neoplasm -is_a: MONDO:0021254 {source="MONDO:Entailed", source="MONDOLEX:0021525", source="NCIT:C3608", source="OWLReasoner:Elk-2018-01-09"} ! corpus uteri neoplasm +is_a: MONDO:0021254 {source="MONDO:Entailed", source="MONDOLEX:0021525", source="NCIT:C3608", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! corpus uteri neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0009853 ! body of uterus @@ -384430,7 +389956,7 @@ xref: NCIT:C4637 {source="MONDO:equivalentTo"} xref: SCTID:276816003 {source="MONDO:equivalentTo"} xref: UMLS:C0349535 {source="NCIT:C4637"} is_a: MONDO:0002883 {source="MONDO:Entailed", source="NCIT:C4637/inferred", source="OWLReasoner:Elk-2018-01-09"} ! intestinal neuroendocrine neoplasm -is_a: MONDO:0005369 {source="MONDOLEX:0021533", source="NCIT:C4637/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! carcinoid tumor (disease) +is_a: MONDO:0005369 {source="MONDOLEX:0021533", source="NCIT:C4637/inferred", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! carcinoid tumor (disease) intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0000160 ! intestine intersection_of: has_modifier MONDO:0024491 ! tumor grade 1, general grading system @@ -384452,7 +389978,7 @@ xref: SCTID:713306000 {source="MONDO:equivalentTo"} xref: UMLS:C1335678 {source="NCIT:C5547", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0006162 {source="MONDO:Entailed", source="NCIT:C5547"} ! colorectal neuroendocrine tumor G1 is_a: MONDO:0015068 {source="MONDO:Entailed", source="MONDOLEX:0021534", source="NCIT:C5547"} ! neuroendocrine tumor of rectum, well differentiated, low or intermediate grade -is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C5547/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! intestinal neuroendocrine tumor G1 +is_a: MONDO:0021533 {source="MONDO:Redundant", source="NCIT:C5547/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! intestinal neuroendocrine tumor G1 intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0001052 ! rectum intersection_of: has_modifier MONDO:0024491 ! tumor grade 1, general grading system @@ -384469,7 +389995,7 @@ xref: UMLS:C0345933 {source="NCIT:C4446"} xref: UMLS:C2987241 {source="NCIT:C95584"} is_a: MONDO:0005369 {source="MONDOLEX:0021535", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! carcinoid tumor (disease) is_a: MONDO:0019954 {source="MONDOLEX:0021535", source="NCIT:C95584"} ! pancreatic neuroendocrine tumor -is_a: MONDO:0021040 {source="MONDO:Redundant", source="NCIT:C4446/inferred", source="NCIT:C95584/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata"} ! pancreatic neoplasm +is_a: MONDO:0021040 {source="MONDO:Redundant", source="NCIT:C4446/inferred", source="NCIT:C95584/inferred", source="OWLReasoner:Elk-2018-01-09", source="linkedlifedata", source="linkedlifedata/inferred"} ! pancreatic neoplasm intersection_of: MONDO:0019496 ! neuroendocrine neoplasm intersection_of: disease_has_location UBERON:0001264 ! pancreas intersection_of: has_modifier MONDO:0024491 ! tumor grade 1, general grading system @@ -384520,7 +390046,7 @@ xref: ICD9:759.6 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C5562 {source="MONDO:equivalentTo"} xref: SCTID:399906000 {source="MONDO:equivalentTo"} xref: UMLS:C1302712 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C5562"} -is_a: MONDO:0006499 {source="MONDO:Entailed", source="NCIT:C5562", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! hamartoma (disease) +is_a: MONDO:0006499 {source="MONDO:Entailed", source="NCIT:C5562", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! hamartoma (disease) intersection_of: MONDO:0006499 ! hamartoma (disease) intersection_of: disease_has_location UBERON:0000021 ! cutaneous appendage @@ -384576,6 +390102,7 @@ synonym: "benign hemangioma of choroid" EXACT [NCIT:C4562] synonym: "benign hemangioma of the choroid" EXACT [NCIT:C4562] synonym: "choroid angioma" EXACT [NCIT:C4562] synonym: "choroid hemangioma" EXACT [NCIT:C4562] +synonym: "hemangioma of optic choroid" EXACT [MONDO:design_pattern] synonym: "hemangioma of the choroid" EXACT [NCIT:C4562] synonym: "hemangioma, choroid, benign" EXACT [NCIT:C4562] synonym: "optic choroid hemangioma" EXACT [MONDO:patterns/location] @@ -384608,7 +390135,7 @@ xref: ICD9:228.09 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4831 {source="MONDO:equivalentTo"} xref: SCTID:304990002 {source="MONDO:equivalentTo"} xref: UMLS:C0582885 {source="NCIT:C4831", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006500 {source="MONDO:Entailed", source="NCIT:C4831", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! hemangioma +is_a: MONDO:0006500 {source="MONDO:Entailed", source="NCIT:C4831", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! hemangioma is_a: MONDO:0021491 {source="MONDO:Entailed", source="NCIT:C4831", source="OWLReasoner:Elk-2018-01-09"} ! benign neoplasm of gum intersection_of: MONDO:0006500 ! hemangioma intersection_of: disease_has_location UBERON:0001828 ! gingiva @@ -384692,6 +390219,7 @@ synonym: "disorder of renal tubule" RELATED [MONDO:patterns/location_top] synonym: "renal tubular disease" EXACT [MONDO:DesignPattern] synonym: "renal tubular disorder" EXACT [MONDO:DesignPattern] synonym: "renal tubule disease" EXACT [MONDO:patterns/location] +synonym: "renal tubule disease or disorder" EXACT [MONDO:design_pattern] xref: ICD9:588.89 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:95568003 {source="MONDO:equivalentTo"} xref: UMLS:C0151747 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} @@ -384729,7 +390257,7 @@ comment: May be obsoleted: see https://github.com/monarch-initiative/mondo-build synonym: "benign scapuloperoneal muscular dystrophy with cardiomyopathy" RELATED [PMID:12376891] xref: ICD9:425.4 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:240072005 {source="MONDO:equivalentTo"} -is_a: MONDO:0020121 {source="PMID:12376891", source="linkedlifedata"} ! muscular dystrophy +is_a: MONDO:0020121 {source="PMID:12376891", source="linkedlifedata", source="linkedlifedata/inferred"} ! muscular dystrophy relationship: disease_shares_features_of MONDO:0010680 {source="PMID:12376891"} ! X-linked Emery-Dreifuss muscular dystrophy [Term] @@ -384754,9 +390282,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/49 id: MONDO:0021573 name: oocyte maturation defect 2 def: "Any inherited oocyte maturation defect in which the cause of the disease is a mutation in the TUBB8 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "inherited oocyte maturation defect caused by mutation in TUBB8" EXACT [MONDO:design_pattern] synonym: "oocyte maturation defect 2" EXACT [MONDO:Lexical, OMIM:616780] synonym: "oocyte maturation defect 2; OOMD2" RELATED [OMIM:616780] synonym: "OOMD2" RELATED [MONDO:Lexical, OMIM:616780] +synonym: "TUBB8 inherited oocyte maturation defect" EXACT [MONDO:design_pattern] xref: OMIM:616780 {source="MONDO:equivalentTo"} xref: Orphanet:488191 {source="OMIM:616780", source="MONDO:relatedTo"} xref: UMLS:C4225210 {source="MEDGEN:kboom-pr98-c99", source="OMIM:616780", source="MONDO:equivalentTo"} @@ -384790,6 +390320,7 @@ is_a: MONDO:0014769 {source="OMIM:617743"} ! inherited oocyte maturation defect id: MONDO:0021576 name: fallopian tube endometrioid tumor def: "A benign, borderline, or malignant epithelial tumor of the fallopian tube that is characterized by the presence of glands and/or cysts lined by neoplastic cells that resemble endometrial cells." [NCIT:C40111] +synonym: "endometrium neoplasm of fallopian tube" EXACT [MONDO:design_pattern] synonym: "fallopian tube endometrioid neoplasm" EXACT [NCIT:C40111] synonym: "fallopian tube endometrioid tumor" EXACT [NCIT:C40111] synonym: "fallopian tube endometrium neoplasm" EXACT [MONDO:patterns/location] @@ -384806,7 +390337,7 @@ synonym: "malignant neuroma of mediastinum" EXACT [] xref: SCTID:278044006 {source="MONDO:equivalentTo"} xref: UMLS:C0349665 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0003098 {source="MONDOLEX:0021577"} ! mediastinal neural neoplasm -is_a: MONDO:0005843 {source="MONDO:Entailed", source="SCTID:278044006", source="linkedlifedata"} ! mediastinal cancer +is_a: MONDO:0005843 {source="MONDO:Entailed", source="linkedlifedata"} ! mediastinal cancer [Term] id: MONDO:0021578 @@ -384826,7 +390357,7 @@ xref: ICD9:239.2 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C6730 {source="DesignPattern", source="MONDO:equivalentTo"} xref: SCTID:126559003 {source="DesignPattern", source="MONDO:equivalentTo"} xref: UMLS:C1290244 {source="NCIT:C6730", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0021350 {source="MONDO:Entailed", source="NCIT:C6730", source="linkedlife", source="linkedlifedata"} ! neoplasm of thorax +is_a: MONDO:0021350 {source="MONDO:Entailed", source="NCIT:C6730", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm of thorax intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000975 ! sternum @@ -384840,7 +390371,7 @@ synonym: "neoplasm of femur" EXACT [MONDO:patterns/neoplasm, SCTID:126583006] synonym: "tumor of femur" EXACT [MONDO:patterns/neoplasm] xref: ICD9:239.2 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:126583006 {source="DesignPattern", source="MONDO:equivalentTo"} -is_a: MONDO:0005381 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-13", source="linkedlifedata"} ! bone disease +is_a: MONDO:0005381 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-13", source="linkedlifedata", source="linkedlifedata/inferred"} ! bone disease intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0000981 ! femur @@ -384854,7 +390385,7 @@ synonym: "neoplasm of jaw skeleton" EXACT [MONDO:patterns/neoplasm] synonym: "tumor of jaw skeleton" EXACT [MONDO:patterns/neoplasm] xref: ICD9:239.89 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:126634001 {source="DesignPattern", source="MONDO:equivalentTo"} -is_a: MONDO:0005586 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-13", source="linkedlifedata"} ! head and neck neoplasm +is_a: MONDO:0005586 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-13", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0001708 ! jaw skeleton @@ -384876,7 +390407,7 @@ xref: MESH:D009372 {source="MONDO:equivalentTo"} xref: SCTID:126598008 {source="MONDO:equivalentTo"} xref: UMLS:C0027656 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0003900 {source="MESH:D009372", source="MONDO:Entailed", source="linkedlifedata"} ! connective tissue disease -is_a: MONDO:0005070 {source="MESH:D009372/inferred", source="MONDO:Entailed", source="MONDOLEX:0021581", source="OWLReasoner:Elk-2018", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="MESH:D009372/inferred", source="MONDO:Entailed", source="MONDOLEX:0021581", source="OWLReasoner:Elk-2018", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0002384 ! connective tissue @@ -384899,6 +390430,7 @@ name: melanocytic skin neoplasm def: "A melanocytic neoplasm that involves the zone of skin." [MONDO:patterns/location] synonym: "cutaneous melanocytic neoplasm" EXACT [NCIT:C7161] synonym: "melanocytic neoplasm of skin" EXACT [NCIT:C7161] +synonym: "melanocytic neoplasm of zone of skin" EXACT [MONDO:design_pattern] synonym: "melanocytic skin neoplasm" EXACT [NCIT:C7161] synonym: "zone of skin melanocytic neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C7161 {source="MONDO:equivalentTo"} @@ -384937,7 +390469,7 @@ synonym: "eyelid benign neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C4354 {source="MONDO:equivalentTo"} xref: SCTID:231824001 {source="MONDO:equivalentTo"} xref: UMLS:C0339107 {source="NCIT:C4354", source="MONDO:equivalentTo"} -is_a: MONDO:0002235 {source="MONDO:Entailed", source="NCIT:C4354"} ! eyelid neoplasm +is_a: MONDO:0002235 {source="MONDO:Entailed", source="NCIT:C4354", source="linkedlifedata"} ! eyelid neoplasm is_a: MONDO:0021454 {source="MONDO:Entailed", source="MONDOLEX:0021605", source="NCIT:C4354"} ! benign neoplasm of eye intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001711 ! eyelid @@ -385011,7 +390543,7 @@ def: "A lipoma that involves the face." [MONDO:patterns/location] synonym: "face lipoma" EXACT [MONDO:patterns/location] xref: ICD9:214.0 {source="i2s", source="MONDO:equivalentTo"} xref: SCTID:93159009 {source="DesignPattern", source="MONDO:equivalentTo"} -is_a: MONDO:0005586 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-14", source="linkedlifedata"} ! head and neck neoplasm +is_a: MONDO:0005586 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-14", source="linkedlifedata", source="linkedlifedata/inferred"} ! head and neck neoplasm intersection_of: MONDO:0005106 ! lipoma intersection_of: disease_has_location UBERON:0001456 ! face @@ -385019,6 +390551,7 @@ intersection_of: disease_has_location UBERON:0001456 ! face id: MONDO:0021631 name: brain astrocytoma def: "A astrocytoma (excluding glioblastoma) that involves the brain." [MONDO:patterns/location] +synonym: "astrocytoma (excluding glioblastoma) of brain" EXACT [MONDO:design_pattern] synonym: "brain astrocytoma" EXACT [NCIT:C60780] synonym: "brain astrocytoma (excluding glioblastoma)" EXACT [MONDO:patterns/location] xref: NCIT:C60780 {source="MONDO:equivalentTo"} @@ -385043,6 +390576,7 @@ is_a: MONDO:0021211 {source="NCIT:C4952"} ! brain neoplasm id: MONDO:0021633 name: cerebral astrocytoma def: "An astrocytoma that arises from the cerebral hemispheres." [NCIT:C4951] +synonym: "astrocytoma (excluding glioblastoma) of cerebral hemisphere" EXACT [MONDO:design_pattern] synonym: "astrocytoma of cerebral hemispheres" EXACT [NCIT:C4951] synonym: "astrocytoma of cerebrum" EXACT [NCIT:C4951] synonym: "astrocytoma of the cerebral hemispheres" EXACT [NCIT:C4951] @@ -385053,7 +390587,7 @@ synonym: "cerebral hemispheric astrocytoma" EXACT [NCIT:C4951] xref: NCIT:C4951 {source="DesignPattern", source="MONDO:equivalentTo"} xref: SCTID:99131000119108 {source="DesignPattern", source="MONDO:equivalentTo"} xref: UMLS:C0750935 {source="NCIT:C4951"} -is_a: MONDO:0021374 {source="MONDO:Entailed", source="NCIT:C4951", source="linkedlifedata"} ! neoplasm of cerebral hemisphere +is_a: MONDO:0021374 {source="MONDO:Entailed", source="NCIT:C4951", source="NCIT:C4951/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm of cerebral hemisphere is_a: MONDO:0021631 {source="MONDO:Entailed", source="NCIT:C4951", source="linkedlifedata"} ! brain astrocytoma intersection_of: MONDO:0019781 ! astrocytoma (excluding glioblastoma) intersection_of: disease_has_location UBERON:0001869 ! cerebral hemisphere @@ -385094,9 +390628,11 @@ synonym: "astrocytic neoplasm" EXACT [NCIT:C6958] synonym: "astrocytic tumor" EXACT [DOID:3069, NCIT:C6958, Orphanet:94] synonym: "astrocytoma" NARROW AMBIGUOUS [https://github.com/NCI-Thesaurus/thesaurus-obo-edition/issues/23] synonym: "astrocytoma of brain" EXACT [DOID:3069] +synonym: "astrocytoma of Cerebrum" EXACT [DOID:3069] synonym: "astrocytoma, no ICD-O subtype" EXACT [DOID:3069] synonym: "Astroglioma" EXACT [NCIT:C6958] synonym: "astroglioma" EXACT [CSP2005:2012-6768, DOID:3069] +synonym: "cerebral astrocytoma" EXACT [DOID:3069] xref: DOID:3069 {source="MONDO:equivalentTo"} xref: EFO:0000272 {source="MONDO:equivalentTo"} xref: MedDRA:10003571 {source="Orphanet:94", source="ORDO:94/e"} @@ -385178,7 +390714,7 @@ xref: DOID:1332 {source="EFO:0007188", source="MONDO:obsolete"} xref: EFO:0007188 {source="MONDO:equivalentTo"} xref: MESH:D002044 {source="EFO:0007188", source="MONDO:equivalentTo"} xref: SCTID:105632002 {source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="EFO:0007188", source="MESH:D002044/inferred", source="MONDOLEX:0021641"} ! viral infectious disease +is_a: MONDO:0005108 {source="EFO:0007188", source="MESH:D002044/inferred", source="MONDOLEX:0021641", source="linkedlifedata"} ! viral infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:11571 ! Bunyaviridae @@ -385187,6 +390723,7 @@ id: MONDO:0021642 name: vulval varices def: "A varicose disease that involves the mammalian vulva." [MONDO:patterns/location] synonym: "mammalian vulva varicose disease" EXACT [MONDO:patterns/location] +synonym: "varicose disease of mammalian vulva" EXACT [MONDO:design_pattern] xref: HP:0100677 {source="MONDO:otherHierarchy"} xref: ICD10:I86.3 {source="MONDO:equivalentTo"} xref: ICD9:456.6 {source="i2s", source="MONDO:equivalentTo"} @@ -385202,6 +390739,7 @@ id: MONDO:0021643 name: mesenteric varices def: "A varicose disease that involves the mesentery." [MONDO:patterns/location] synonym: "mesentery varicose disease" EXACT [MONDO:patterns/location] +synonym: "varicose disease of mesentery" EXACT [MONDO:design_pattern] xref: HP:0002626 {source="MONDO:otherHierarchy"} xref: SCTID:22949006 {source="MONDO:equivalentTo"} xref: UMLS:C1857692 {source="HP:0002626"} @@ -385235,6 +390773,7 @@ name: uterine corpus neuroendocrine neoplasm def: "An epithelial neoplasm with neuroendocrine differentiation that arises from the uterine corpus. It includes carcinoid tumor, small cell carcinoma pulmonary type, and large cell neuroendocrine carcinoma." [NCIT:C126771] synonym: "body of uterus neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "body of uterus neuroendocrine tumor" EXACT [MONDO:patterns/location] +synonym: "neuroendocrine neoplasm of body of uterus" EXACT [MONDO:design_pattern] synonym: "uterine corpus neuroendocrine neoplasm" EXACT [NCIT:C126771] synonym: "uterine corpus neuroendocrine tumor" EXACT [NCIT:C126771] xref: NCIT:C126771 {source="MONDO:equivalentTo"} @@ -385362,7 +390901,7 @@ xref: ICDO:8245/3 {source="NCIT:C4139"} xref: MESH:C538230 {source="MONDO:equivalentTo"} xref: NCIT:C4139 {source="MONDO:equivalentTo"} xref: UMLS:C0334302 {source="GARD:0005741", source="NCIT:C4139", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004993 {source="MONDOLEX:0021659", source="NCIT:C4139"} ! carcinoma +is_a: MONDO:0004993 {source="MESH:C538230/inferred", source="MONDOLEX:0021659", source="NCIT:C4139"} ! carcinoma [Term] id: MONDO:0021660 @@ -385377,15 +390916,17 @@ is_a: MONDO:0021201 {source="NCIT:C35073"} ! skin infection id: MONDO:0021661 name: coronary atherosclerosis def: "Atherosclerosis of the coronary vasculature." [NCIT:C35505] +synonym: "arteriosclerosis disorder of coronary artery" EXACT [MONDO:design_pattern] synonym: "atherosclerosis of coronary artery" BROAD [] synonym: "coronary artery arteriosclerosis (disease)" EXACT [MONDO:patterns/location] +synonym: "coronary artery arteriosclerosis disorder" EXACT [MONDO:design_pattern] synonym: "coronary atherosclerosis" EXACT [NCIT:C35505] xref: ICD9:414.00 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C35505 {source="MONDO:equivalentTo"} xref: SCTID:443502000 {source="MONDO:equivalentTo"} xref: UMLS:C0010054 {source="NCIT:C35505"} -is_a: MONDO:0005010 {source="MONDO:Entailed", source="https://www.nhlbi.nih.gov/health-topics/coronary-heart-disease", source="linkedlifedata"} ! coronary artery disease -is_a: MONDO:0005311 {source="NCIT:C35505", source="linkedlife"} ! atherosclerosis +is_a: MONDO:0005010 {source="MONDO:Entailed", source="https://www.nhlbi.nih.gov/health-topics/coronary-heart-disease", source="linkedlifedata", source="linkedlifedata/inferred"} ! coronary artery disease +is_a: MONDO:0005311 {source="NCIT:C35505", source="linkedlifedata"} ! atherosclerosis intersection_of: MONDO:0002277 ! arteriosclerosis disorder intersection_of: disease_has_location UBERON:0001621 ! coronary artery @@ -385474,7 +391015,7 @@ synonym: "paroxysmal nerve pains" RELATED [MESH:D009437] xref: ICD9:729.2 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D009437 {source="MONDO:equivalentTo"} xref: SCTID:16269008 {source="MONDO:equivalentTo"} -is_a: MONDO:0003620 {source="MESH:D009437", source="MONDO:Redundant"} ! peripheral nervous system disease +is_a: MONDO:0003620 {source="MESH:D009437", source="MONDO:Redundant", source="linkedlifedata"} ! peripheral nervous system disease is_a: MONDO:0021668 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-01-21", source="linkedlifedata"} ! disorder involving pain intersection_of: MONDO:0005244 ! peripheral neuropathy intersection_of: disease_has_major_feature HP:0012531 ! Pain @@ -385487,7 +391028,7 @@ xref: DOID:0060164 {source="MONDO:equivalentTo"} xref: MESH:D010146 {source="MONDO:otherHierarchy"} xref: SCTID:373673007 {source="MONDO:equivalentTo"} xref: UMLS:C1300028 {source="MONDO:equivalentTo"} -is_a: MONDO:0000001 {source="MONDO:Entailed", source="linkedlifedata"} ! disease or disorder +is_a: MONDO:0000001 {source="DOID:0060164/inferred", source="MONDO:Entailed", source="linkedlifedata"} ! disease or disorder intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_major_feature HP:0012531 ! Pain relationship: excluded_subClassOf MONDO:0003117 {source="DOID:0060164", source="https://github.com/monarch-initiative/mondo/issues/130"} ! somatoform disorder @@ -385583,8 +391124,8 @@ xref: MESH:D013290 {source="MONDO:equivalentTo"} xref: NCIT:C87062 {source="MONDO:equivalentTo"} xref: SCTID:85769006 {source="MONDO:equivalentTo"} xref: UMLS:C0038395 {source="NCIT:C87062", source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1001476", source="MESH:D013290/inferred", source="MONDO:Redundant", source="NCIT:C87062", source="linkedlifedata"} ! bacterial infectious disease -is_a: MONDO:0021679 {source="MESH:D013290", source="linkedlifedata"} ! gram-positive bacterial infections +is_a: MONDO:0005113 {source="EFO:1001476", source="MESH:D013290/inferred", source="MONDO:Redundant", source="NCIT:C87062", source="linkedlifedata", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0021679 {source="MESH:D013290", source="linkedlifedata", source="linkedlifedata/inferred"} ! gram-positive bacterial infections intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:1301 ! Streptococcus @@ -385620,7 +391161,7 @@ xref: NCIT:C3365 {source="MONDO:equivalentTo"} xref: Orphanet:120579 {source="MONDO:equivalentTo"} xref: SCTID:8098009 {source="MONDO:equivalentTo"} xref: UMLS:C0036916 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005550 {source="ICD10:A50.A64", source="MONDO:Entailed", source="linkedlifedata"} ! infectious disease +is_a: MONDO:0005550 {source="ICD10:A50.A64", source="MONDO:Entailed", source="NCIT:C3365", source="linkedlifedata"} ! infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in NCIT:C19085 relationship: disease_has_location UBERON:0000990 ! reproductive system @@ -385679,8 +391220,9 @@ synonym: "alcohol-Related disorder" RELATED [MESH:D019973] synonym: "disorder, alcohol-Related" RELATED [MESH:D019973] synonym: "disorders, alcohol-Related" RELATED [MESH:D019973] xref: MESH:D019973 {source="MONDO:equivalentTo"} -xref: SCTID:29212009 {source="MONDO:equivalentTo"} is_a: MONDO:0002494 {source="MESH:D019973"} ! substance-related disorder +intersection_of: MONDO:0002494 ! substance-related disorder +intersection_of: realized_in_response_to ECTO:0001082 ! alcohol consumption related exposure [Term] id: MONDO:0021699 @@ -385753,8 +391295,10 @@ synonym: "syndromes, alcoholic Korsakoff" RELATED [MESH:D000425] xref: EFO:1001759 {source="MONDO:equivalentTo"} xref: MESH:D000425 {source="MONDO:equivalentTo"} xref: SCTID:73097000 {source="MONDO:equivalentTo"} -is_a: MONDO:0001152 {source="MONDO:cjm"} ! amnestic disorder +is_a: MONDO:0001152 {source="MONDO:cjm", source="linkedlifedata"} ! amnestic disorder is_a: MONDO:0021698 {source="MESH:D000425", source="MESH:D000425/inferred"} ! alcohol-related disorders +intersection_of: MONDO:0001152 ! amnestic disorder +intersection_of: realized_in_response_to ECTO:0001082 ! alcohol consumption related exposure [Term] id: MONDO:0021720 @@ -385850,7 +391394,7 @@ xref: GARD:0005706 {source="MONDO:equivalentTo"} xref: MESH:C535555 {source="MONDO:equivalentTo"} xref: SCTID:93353003 {source="MONDO:equivalentTo"} xref: UMLS:C2936828 {source="MONDO:equivalentTo"} -is_a: MONDO:0000001 {source="linkedlife", source="linkedlife/inferred"} ! disease or disorder +is_a: MONDO:0000001 {source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! disease or disorder relationship: disease_has_location UBERON:0001533 ! subclavian artery property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5706/aberrant-subclavian-artery xsd:anyURI {source="GARD:0005706"} @@ -386180,7 +391724,7 @@ xref: GARD:0009477 {source="MONDO:equivalentTo"} xref: MESH:C538255 {source="MONDO:equivalentTo"} xref: NCIT:C7208 {source="MONDO:equivalentTo"} xref: UMLS:C1335983 {source="NCIT:C7208", source="GARD:0009477", source="MONDO:equivalentTo"} -is_a: MONDO:0018908 {source="MESH:C538255"} ! non-Hodgkin lymphoma +is_a: MONDO:0018908 {source="MESH:C538255", source="NCIT:C7208/inferred"} ! non-Hodgkin lymphoma is_a: MONDO:0020325 {source="NCIT:C7208"} ! anaplastic large cell lymphoma property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9477/anaplastic-small-cell-lymphoma xsd:anyURI {source="GARD:0009477"} @@ -386214,7 +391758,7 @@ xref: MESH:D001028 {source="MONDO:equivalentTo"} xref: NCIT:C101050 {source="MONDO:equivalentTo"} xref: SCTID:17024001 {source="MONDO:equivalentTo"} xref: UMLS:C0003516 {source="NCIT:C101050"} -is_a: MONDO:0005267 {source="NCIT:C101050/inferred"} ! heart disease +is_a: MONDO:0005267 {source="MESH:D001028/inferred", source="NCIT:C101050/inferred"} ! heart disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/745/aortopulmonary-window xsd:anyURI {source="GARD:0000745"} [Term] @@ -386271,7 +391815,7 @@ xref: GARD:0010278 {source="MONDO:equivalentTo"} xref: ICD9:698.8 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:238695001 {source="MONDO:equivalentTo"} xref: UMLS:C0406409 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0010278"} -is_a: MONDO:0005093 {source="linkedlifedata"} ! skin disease +is_a: MONDO:0005093 {source="linkedlifedata", source="linkedlifedata/inferred"} ! skin disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10278/aquagenic-pruritus xsd:anyURI {source="GARD:0010278"} [Term] @@ -386292,7 +391836,7 @@ xref: SCTID:89579000 {source="MONDO:equivalentTo"} xref: UMLS:C0268611 {source="NCIT:C99081", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0021915", source="NCIT:C99081"} ! syndromic disease is_a: MONDO:0004736 {source="MESH:C537426"} ! inherited amino acid metabolic disorder -is_a: MONDO:0019052 {source="MESH:C537426/inferred", source="MONDO:Redundant", source="NCIT:C99081"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="MESH:C537426/inferred", source="MONDO:Redundant", source="NCIT:C99081", source="NCIT:C99081/inferred", source="linkedlifedata/inferred"} ! inborn errors of metabolism [Term] id: MONDO:0021918 @@ -386394,7 +391938,7 @@ xref: SCTID:443805006 {source="MONDO:equivalentTo"} xref: UMLS:C1852271 {source="NCIT:C116364", source="GARD:0009274", source="MEDGEN:kboom-pr99-c99", source="MONDO:equivalentTo"} xref: UMLS:C2732267 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0005365 {source="MESH:C538268/inferred"} ! hearing loss -is_a: MONDO:0021945 {source="MONDO:Redundant", source="NCIT:C116364"} ! hearing disorder +is_a: MONDO:0021945 {source="MESH:C538268/inferred", source="MONDO:Redundant", source="NCIT:C116364", source="linkedlifedata/inferred"} ! hearing disorder relationship: disease_disrupts GO:0007605 ! sensory perception of sound property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9274/auditory-neuropathy xsd:anyURI {source="GARD:0009274"} @@ -386443,7 +391987,7 @@ xref: MESH:C535299 {source="MONDO:equivalentTo"} xref: SCTID:400009001 {source="MONDO:equivalentTo"} xref: UMLS:C1260879 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0009139"} is_a: MONDO:0002406 ! dermatitis -is_a: MONDO:0007179 {source="MESH:C535299", source="MONDO:Redundant", source="linkedlifedata"} ! autoimmune disease +is_a: MONDO:0007179 {source="MESH:C535299", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! autoimmune disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9139/autoimmune-progesterone-dermatitis xsd:anyURI {source="GARD:0009139"} [Term] @@ -386548,7 +392092,7 @@ xref: ICD9:706.1 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4749 {source="MONDO:equivalentTo"} xref: SCTID:254705003 {source="MONDO:equivalentTo"} xref: UMLS:C0474964 {source="MEDGEN:kboom-pr98-c99", source="GARD:0002354", source="MONDO:equivalentTo"} -is_a: MONDO:0006499 {source="linkedlifedata"} ! hamartoma (disease) +is_a: MONDO:0006499 {source="NCIT:C4749/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! hamartoma (disease) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2354/basaloid-follicular-hamartoma xsd:anyURI {source="GARD:0002354"} [Term] @@ -386657,7 +392201,7 @@ xref: ICD9:447.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C8374 {source="MONDO:equivalentTo"} xref: SCTID:402913004 {source="MONDO:equivalentTo"} xref: UMLS:C0334106 {source="NCIT:C8374", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0005951"} -is_a: MONDO:0005070 {source="NCIT:C8374/inferred", source="linkedlifedata"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="NCIT:C8374/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! neoplasm (disease) relationship: disease_arises_from_feature MONDO:0005161 {source="NCIT:C8374"} ! human papilloma virus infection property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5951/bowenoid-papulosis xsd:anyURI {source="GARD:0005951"} @@ -386698,7 +392242,7 @@ xref: MESH:C537961 {source="MONDO:equivalentTo"} xref: NCIT:C54301 {source="MONDO:equivalentTo"} xref: UMLS:C0334574 {source="NCIT:C54301", source="MEDGEN:kboom-pr98-c99", source="GARD:0006256", source="MONDO:equivalentTo"} is_a: MONDO:0002531 {source="MESH:C537961"} ! skin neoplasm -is_a: MONDO:0021192 {source="NCIT:C54301"} ! odontogenic neoplasm +is_a: MONDO:0021192 {source="MESH:C537961", source="NCIT:C54301"} ! odontogenic neoplasm property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6256/calcifying-epithelial-odontogenic-tumor xsd:anyURI {source="GARD:0006256"} [Term] @@ -386782,7 +392326,7 @@ xref: MESH:C538279 {source="MONDO:equivalentTo"} xref: OMIM:131200 {source="GARD:0009858", source="MONDO:relatedTo"} xref: SCTID:233642001 {source="MONDO:equivalentTo"} xref: UMLS:C0340007 {source="GARD:0009858", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002076 {source="MESH:C538279", source="SCTID:233642001", source="linkedlifedata"} ! pneumothorax (disease) +is_a: MONDO:0002076 {source="MESH:C538279", source="linkedlifedata"} ! pneumothorax (disease) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9858/catamenial-pneumothorax xsd:anyURI {source="GARD:0009858"} [Term] @@ -386808,7 +392352,7 @@ xref: GARD:0010826 {source="MONDO:equivalentTo"} xref: ICD9:704.09 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:109441000119102 {source="MONDO:equivalentTo"} xref: UMLS:C1274708 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004907 {source="linkedlifedata"} ! alopecia +is_a: MONDO:0004907 {source="linkedlifedata", source="linkedlifedata/inferred"} ! alopecia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10826/central-centrifugal-cicatricial-alopecia xsd:anyURI {source="GARD:0010826"} [Term] @@ -386853,8 +392397,8 @@ xref: GARD:0010749 {source="MONDO:equivalentTo"} xref: ICD10:L75.1 {source="MONDO:equivalentTo"} xref: ICD9:705.89 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:26147006 {source="MONDO:equivalentTo"} -is_a: MONDO:0005093 {source="MONDO:Redundant", source="linkedlife"} ! skin disease -is_a: MONDO:0006615 {source="MONDO:Redundant", source="linkedlife"} ! sweat gland disease +is_a: MONDO:0005093 {source="MONDO:Redundant", source="linkedlifedata"} ! skin disease +is_a: MONDO:0006615 {source="MONDO:Redundant", source="linkedlifedata"} ! sweat gland disease is_a: MONDO:0024467 {source="ICD10:L75.1", source="MONDO:Entailed"} ! apocrine sweat gland disease relationship: disease_has_location UBERON:0000382 {notes="typical"} ! apocrine sweat gland property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10749/chromhidrosis xsd:anyURI {source="GARD:0010749"} @@ -386928,7 +392472,7 @@ xref: GARD:0006099 {source="MONDO:equivalentTo"} xref: ICD9:535.40 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:63137003 {source="MONDO:equivalentTo"} xref: UMLS:C0267145 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004966 {source="MONDOLEX:0022196", source="linkedlifedata"} ! gastritis (disease) +is_a: MONDO:0004966 {source="MONDOLEX:0022196", source="linkedlifedata", source="linkedlifedata/inferred"} ! gastritis (disease) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6099/chronic-erosive-gastritis xsd:anyURI {source="GARD:0006099"} [Term] @@ -386946,7 +392490,7 @@ is_a: MONDO:0022200 ! treatment for disease [Term] id: MONDO:0022202 name: disseminated -is_a: MONDO:0021125 ! disease characteristic +is_a: MONDO:0045040 ! locational disease characteristic [Term] id: MONDO:0022236 @@ -386958,7 +392502,7 @@ xref: GARD:0010008 {source="MONDO:equivalentTo"} xref: MESH:C535973 {source="MONDO:equivalentTo"} xref: SCTID:253160006 {source="MONDO:equivalentTo"} xref: UMLS:C0431384 {source="GARD:0010008"} -is_a: MONDO:0005560 {source="MESH:C535973", source="linkedlife/inferred"} ! brain disease +is_a: MONDO:0005560 {source="MESH:C535973", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! brain disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10008/colpocephaly xsd:anyURI {source="GARD:0010008"} [Term] @@ -386976,7 +392520,7 @@ xref: MESH:C562378 {source="MONDO:equivalentTo"} xref: NCIT:C97071 {source="MONDO:equivalentTo"} xref: SCTID:79607001 {source="MONDO:equivalentTo"} xref: UMLS:C0009714 {source="NCIT:C97071", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003847 {source="MESH:C562378", source="linkedlife"} ! inherited genetic disease +is_a: MONDO:0003847 {source="MESH:C562378", source="linkedlifedata"} ! inherited genetic disease is_a: MONDO:0005155 {source="MESH:C562378"} ! cirrhosis of liver property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6168/congenital-hepatic-fibrosis xsd:anyURI {source="GARD:0006168"} @@ -386992,7 +392536,7 @@ xref: GARD:0001486 {source="MONDO:equivalentTo"} xref: ICD9:771.2 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:91576008 {source="MONDO:equivalentTo"} xref: UMLS:C0276225 {source="MEDGEN:kboom-pr98-c99", source="GARD:0001486", source="MONDO:equivalentTo"} -is_a: MONDO:0005550 {source="linkedlifedata"} ! infectious disease +is_a: MONDO:0005550 {source="linkedlifedata", source="linkedlifedata/inferred"} ! infectious disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1486/congenital-herpes-simplex xsd:anyURI {source="GARD:0001486"} [Term] @@ -387043,7 +392587,7 @@ def: "Syndrome with the association of stubby, coarse, sparse and fragile hair, synonym: "hair defect with photosensitivity and intellectual disability syndrome" EXACT [SCTID:721007005] xref: SCTID:721007005 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0022316"} ! syndromic disease -is_a: MONDO:0006025 {source="SCTID:721007005", source="linkedlifedata"} ! autosomal recessive disease +is_a: MONDO:0006025 {source="linkedlifedata"} ! autosomal recessive disease [Term] id: MONDO:0022321 @@ -387313,7 +392857,7 @@ xref: SCTID:206597007 {source="MONDO:relatedTo"} xref: SCTID:233815004 {source="MONDO:equivalentTo"} xref: SCTID:35604006 {source="MONDO:relatedTo"} xref: UMLS:C0031190 {source="NCIT:C85006", source="MONDO:relatedTo"} -is_a: MONDO:0024239 {source="linkedlife"} ! congenital anomaly of cardiovascular system +is_a: MONDO:0024239 {source="linkedlifedata"} ! congenital anomaly of cardiovascular system [Term] id: MONDO:0022432 @@ -387997,7 +393541,7 @@ synonym: "type 3 burning mouth syndrome" RELATED [GARD:0008558] xref: GARD:0008558 {source="MONDO:equivalentTo"} xref: MESH:C537413 {source="MONDO:equivalentTo"} xref: UMLS:C2931487 {source="GARD:0008558", source="MONDO:equivalentTo"} -is_a: MONDO:0006687 {source="MONDOLEX:0022618"} ! burning mouth syndrome +is_a: MONDO:0006687 {source="MESH:C537413", source="MONDOLEX:0022618"} ! burning mouth syndrome property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8558/burning-mouth-syndrome-type-3 xsd:anyURI {source="GARD:0008558"} [Term] @@ -388292,9 +393836,12 @@ id: MONDO:0022687 name: cerebellar degeneration def: "Degeneration of the cerebellum. It may be an inherited condition, a paraneoplastic syndrome, or secondary to autoimmune disorders." [NCIT:C84624] subset: gard_rare +synonym: "Brain degeneration" EXACT [DOID:1443] synonym: "cerebellar Degeneration" EXACT [NCIT:C84624] synonym: "cerebellar degeneration" EXACT [SCTID:95646004] synonym: "cerebellum neurodegenerative disease" EXACT [MONDO:patterns/location] +synonym: "cerebral degeneration" RELATED [DOID:1443] +synonym: "neurodegenerative disease of cerebellum" EXACT [MONDO:design_pattern] xref: DOID:1443 {source="MONDO:equivalentTo"} xref: GARD:0006019 {source="MONDO:equivalentTo"} xref: ICD9:331.9 {source="MONDO:directSiblingOf", source="DOID:1443"} @@ -388311,7 +393858,7 @@ xref: SCTID:73768007 {source="DOID:1443"} xref: SCTID:95646004 {source="MONDO:equivalentTo"} xref: UMLS:C0154671 {source="MONDO:directSiblingOf", source="DOID:1443"} xref: UMLS:C0262404 {source="GARD:0006019", source="NCIT:C84624", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005560 {source="DOID:1443", source="MONDO:Redundant", source="linkedlifedata"} ! brain disease +is_a: MONDO:0005560 {source="DOID:1443", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease intersection_of: MONDO:0005559 ! neurodegenerative disease intersection_of: disease_has_location UBERON:0002037 ! cerebellum property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6019/cerebellar-degeneration xsd:anyURI {source="GARD:0006019"} @@ -388354,7 +393901,7 @@ xref: NCIT:C97169 {source="MONDO:equivalentTo"} xref: SCTID:75019001 {source="MONDO:equivalentTo"} xref: UMLS:C0270742 {source="GARD:0010449"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease -is_a: MONDO:0006497 {source="MONDOLEX:0022697", source="NCIT:C97169"} ! cerebral palsy +is_a: MONDO:0006497 {source="ICD10:G80.3", source="MONDOLEX:0022697", source="NCIT:C97169", source="linkedlifedata/inferred"} ! cerebral palsy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10449/cerebral-palsy-athetoid xsd:anyURI {source="GARD:0010449"} [Term] @@ -388434,7 +393981,7 @@ xref: GARD:0009233 {source="MONDO:equivalentTo"} xref: OMIM:118420 {source="MONDO:directSiblingOf", source="GARD:0009233"} xref: SCTID:253186001 {source="MONDO:equivalentTo"} xref: UMLS:C0750931 {source="GARD:0009233"} -is_a: MONDO:0000115 {source="MONDO:cjm"} ! Chiari malformation +is_a: MONDO:0000115 {source="MONDO:cjm", source="linkedlifedata"} ! Chiari malformation property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9233/chiari-malformation-type-3 xsd:anyURI {source="GARD:0009233"} [Term] @@ -388447,7 +393994,7 @@ synonym: "Chiari type IV malformation" RELATED [GARD:0009234] xref: GARD:0009234 {source="MONDO:equivalentTo"} xref: OMIM:118420 {source="MONDO:directSiblingOf", source="GARD:0009234"} xref: SCTID:253187005 {source="MONDO:equivalentTo"} -is_a: MONDO:0000115 {source="MONDO:cjm"} ! Chiari malformation +is_a: MONDO:0000115 {source="MONDO:cjm", source="linkedlifedata"} ! Chiari malformation property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9234/chiari-malformation-type-4 xsd:anyURI {source="GARD:0009234"} [Term] @@ -388520,8 +394067,8 @@ xref: GARD:0001309 {source="MONDO:equivalentTo"} xref: SCTID:230790004 {source="MONDO:equivalentTo"} xref: UMLS:C0338597 {source="GARD:0001309"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease -is_a: MONDO:0005262 {source="SCTID:230790004", source="linkedlife", source="linkedlifedata"} ! central nervous system cyst (disease) -is_a: MONDO:0005560 {source="MONDO:Redundant", source="SCTID:230790004", source="linkedlife", source="linkedlifedata"} ! brain disease +is_a: MONDO:0005262 {source="linkedlifedata", source="linkedlifedata/inferred"} ! central nervous system cyst (disease) +is_a: MONDO:0005560 {source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1309/choroid-plexus-cyst xsd:anyURI {source="GARD:0001309"} [Term] @@ -388536,9 +394083,9 @@ synonym: "choroideremia hypopituitarism" EXACT [SCTID:715417002] xref: GARD:0001312 {source="MONDO:equivalentTo"} xref: SCTID:715417002 {source="MONDO:equivalentTo"} xref: UMLS:C4275146 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000425 {source="MONDO:Redundant", source="SCTID:715417002", source="linkedlifedata"} ! X-linked disease +is_a: MONDO:0000425 {source="MONDO:Redundant", source="linkedlifedata"} ! X-linked disease is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease -is_a: MONDO:0010557 {source="SCTID:715417002", source="linkedlifedata"} ! choroideremia +is_a: MONDO:0010557 {source="linkedlifedata"} ! choroideremia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/1312/choroideremia-hypopituitarism xsd:anyURI {source="GARD:0001312"} [Term] @@ -388662,7 +394209,7 @@ xref: GARD:0005335 {source="MONDO:equivalentTo"} xref: MESH:C536799 {source="MONDO:equivalentTo"} xref: SCTID:205655003 {source="MONDO:equivalentTo"} xref: UMLS:C0265490 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0005335"} -is_a: MONDO:0019040 ! chromosomal anomaly +is_a: MONDO:0019040 {source="linkedlifedata/inferred"} ! chromosomal anomaly property_value: seeAlso https://rarediseases.info.nih.gov/diseases/5335/trisomy-22 xsd:anyURI {source="GARD:0005335"} [Term] @@ -388904,7 +394451,7 @@ xref: EFO:1001881 {source="MONDO:equivalentTo"} xref: GARD:0006131 {source="MONDO:equivalentTo"} xref: SCTID:74774004 {source="MONDO:equivalentTo"} xref: UMLS:C0221207 {source="MONDO:equivalentTo"} -is_a: MONDO:0005492 {source="EFO:1001881"} ! urticaria (disease) +is_a: MONDO:0005492 {source="EFO:1001881", source="linkedlifedata"} ! urticaria (disease) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6131/cold-urticaria xsd:anyURI {source="GARD:0006131"} [Term] @@ -388914,6 +394461,7 @@ def: "Any disease or disorder in which the cause of the disease is a mutation in subset: gard_rare synonym: "cartilage collagen" RELATED [GARD:0009246] synonym: "COL2A1" RELATED [GARD:0009246] +synonym: "COL2A1 disease or disorder" EXACT [MONDO:design_pattern] synonym: "collagen II" RELATED [GARD:0009246] xref: GARD:0009246 {source="MONDO:equivalentTo"} xref: http://identifiers.org/hgnc/2200 {source="GARD:0009246"} @@ -389218,7 +394766,7 @@ xref: NCIT:C124591 {source="MONDO:equivalentTo"} xref: SCTID:81990004 {source="MONDO:equivalentTo"} xref: UMLS:C0152238 {source="GARD:0006193", source="MEDGEN:kboom-pr98-c99", source="NCIT:C124591", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease -is_a: MONDO:0005267 {source="MONDO:Entailed", source="NCIT:C124591/inferred", source="OWLReasoner:Elk-2018-03-06", source="linkedlifedata"} ! heart disease +is_a: MONDO:0005267 {source="MONDO:Entailed", source="NCIT:C124591/inferred", source="OWLReasoner:Elk-2018-03-06", source="linkedlifedata", source="linkedlifedata/inferred"} ! heart disease relationship: disease_has_location UBERON:0000948 ! heart property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6193/cor-biloculare xsd:anyURI {source="GARD:0006193"} @@ -389323,7 +394871,7 @@ synonym: "corticobasal degeneration" EXACT [SCTID:18842008] synonym: "corticodentatonigral degeneration with neuronal achromasia" RELATED [SCTID:18842008] xref: SCTID:18842008 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease -is_a: MONDO:0024238 {source="SCTID:18842008", source="linkedlifedata"} ! cerebral degeneration +is_a: MONDO:0024238 {source="linkedlifedata"} ! cerebral degeneration [Term] id: MONDO:0022883 @@ -389542,6 +395090,7 @@ name: cytokine deficiency def: "A disease that has its basis in the disruption of cytokine activity." [MONDO:patterns/basis_in_disruption_of_process] comment: Editor note: todo, align subset: gard_rare +synonym: "cytokine activity disease" EXACT [MONDO:design_pattern] synonym: "disorder of cytokine activity" RELATED [MONDO:patterns/basis_in_disruption_of_process] xref: GARD:0009529 {source="MONDO:equivalentTo"} is_a: MONDO:0021196 {source="MONDO:metaclass"} ! disease by molecular activity disrupted @@ -389554,6 +395103,7 @@ name: cytokine receptor deficiency def: "A disease that has its basis in the disruption of cytokine receptor activity." [MONDO:patterns/basis_in_disruption_of_process] comment: Editor note: todo, align subset: gard_rare +synonym: "cytokine receptor activity disease" EXACT [MONDO:design_pattern] synonym: "disorder of cytokine receptor activity" RELATED [MONDO:patterns/basis_in_disruption_of_process] xref: GARD:0009530 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease @@ -389734,6 +395284,7 @@ id: MONDO:0022953 name: delta-1-pyrroline-5-carboxylate dehydrogenase deficiency def: "A disease that has its basis in the disruption of 1-pyrroline-5-carboxylate dehydrogenase activity." [MONDO:patterns/basis_in_disruption_of_process] subset: gard_rare +synonym: "1-pyrroline-5-carboxylate dehydrogenase activity disease" EXACT [MONDO:design_pattern] synonym: "disorder of 1-pyrroline-5-carboxylate dehydrogenase activity" RELATED [MONDO:patterns/basis_in_disruption_of_process] xref: GARD:0001798 {source="MONDO:equivalentTo"} is_a: MONDO:0019052 ! inborn errors of metabolism @@ -389931,7 +395482,7 @@ xref: MESH:C548012 {source="MONDO:equivalentTo"} xref: SCTID:10177005 {source="MONDO:equivalentTo"} xref: UMLS:C0265505 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease -is_a: MONDO:0019040 {source="linkedlife/inferred"} ! chromosomal anomaly +is_a: MONDO:0019040 {source="linkedlife/inferred", source="linkedlifedata/inferred"} ! chromosomal anomaly is_a: MONDO:0019934 {source="MESH:C548012"} ! polyploidy property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10715/diploid-triploid-mosaicism xsd:anyURI {source="GARD:0010715"} @@ -390328,6 +395879,7 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2124/engelhar id: MONDO:0023069 name: enlarged vestibular aqueduct syndrome subset: gard_rare +synonym: "enlarged vestibular aqueduct" RELATED [DOID:0050332] synonym: "large vestibular aqueduct syndrome" RELATED [GARD:0008651] xref: DOID:0050332 {source="MONDO:equivalentTo"} xref: GARD:0008651 {source="MONDO:equivalentTo"} @@ -390395,7 +395947,7 @@ xref: ICD9:704.8 {source="i2s", source="MONDO:relatedTo"} xref: MESH:C535953 {source="MONDO:equivalentTo"} xref: SCTID:95333004 {source="MONDO:equivalentTo"} xref: UMLS:C0406305 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="GARD:0008534"} -is_a: MONDO:0006552 {source="MESH:C535953", source="MONDOLEX:0023076", source="linkedlifedata"} ! folliculitis +is_a: MONDO:0006552 {source="MESH:C535953", source="MONDOLEX:0023076", source="linkedlifedata", source="linkedlifedata/inferred"} ! folliculitis is_a: MONDO:0006617 {source="MESH:C535953"} ! vesiculobullous skin disease property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8534/eosinophilic-pustular-folliculitis xsd:anyURI {source="GARD:0008534"} @@ -390433,7 +395985,7 @@ xref: EFO:1001786 {source="MONDO:equivalentTo"} xref: GARD:0006378 {source="MONDO:equivalentTo"} xref: NCIT:C3025 {source="MONDO:equivalentTo"} xref: UMLS:C0014818 {source="NCIT:C3025", source="GARD:0006378", source="MONDO:equivalentTo"} -is_a: MONDO:0005070 ! neoplasm (disease) +is_a: MONDO:0005070 {source="EFO:1001786"} ! neoplasm (disease) property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6378/erythroplakia xsd:anyURI {source="GARD:0006378"} [Term] @@ -390706,6 +396258,7 @@ subset: gard_rare xref: GARD:0002302 {source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023143"} ! syndromic disease intersection_of: MONDO:0016511 ! infectious embryofetopathy +intersection_of: has_modifier MONDO:0021127 ! has a syndromic presentation intersection_of: realized_in_response_to_stimulus NCBITaxon:12059 ! Enterovirus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2302/fetal-enterovirus-syndrome xsd:anyURI {source="GARD:0002302"} @@ -390844,7 +396397,7 @@ xref: MESH:C537069 {source="MONDO:equivalentTo"} xref: Orphanet:2048 {source="MONDO:equivalentTo"} xref: SCTID:720956003 {source="MONDO:equivalentTo"} xref: UMLS:C2931412 {source="GARD:0002351", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001819 {source="SCTID:720956003", source="linkedlifedata"} ! multiple cranial nerve palsy +is_a: MONDO:0001819 {source="linkedlifedata"} ! multiple cranial nerve palsy is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023171"} ! syndromic disease relationship: disease_has_feature MONDO:0001835 {source="MESH:C537069"} ! facial paralysis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2351/foix-chavany-marie-syndrome xsd:anyURI {source="GARD:0002351"} @@ -390942,8 +396495,9 @@ xref: GARD:0002380 {source="MONDO:equivalentTo"} xref: MESH:C535636 {source="MONDO:equivalentTo"} xref: SCTID:28466007 {source="MONDO:equivalentTo"} xref: UMLS:C0264099 {source="GARD:0002380", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001359 {source="SCTID:28466007", source="linkedlifedata"} ! Kohler disease +is_a: MONDO:0001359 {source="linkedlifedata"} ! obsolete Kohler disease is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023188"} ! syndromic disease +is_a: MONDO:0016086 {source="linkedlifedata"} ! osteochondritis of tarsal/metatarsal bone relationship: disease_has_location UBERON:0001448 ! metatarsal bone property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2380/freibergs-disease xsd:anyURI {source="GARD:0002380"} @@ -391188,7 +396742,7 @@ xref: MESH:C537803 {source="MONDO:equivalentTo"} xref: UMLS:C2974016 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDO:cjm", source="MONDOLEX:0023230"} ! syndromic disease relationship: disease_has_feature MONDO:0005041 {source="MESH:C537803"} ! glaucoma (disease) -relationship: disease_has_feature MONDO:0019118 {source="MESH:C537803"} ! genetic retinal dystrophy +relationship: disease_has_feature MONDO:0019118 {source="MESH:C537803"} ! inherited retinal dystrophy relationship: disease_has_feature MONDO:0021129 {source="MESH:C537803"} ! microphthalmia property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2467/ghose-sachdev-kumar-syndrome xsd:anyURI {source="GARD:0002467"} @@ -391233,7 +396787,7 @@ xref: Orphanet:626 {source="GARD:0002469", source="MONDO:relatedTo"} xref: SCTID:254815002 {source="MONDO:equivalentTo"} xref: UMLS:C1842036 {source="NCIT:C4234"} is_a: MONDO:0002254 {source="MONDO:cjm"} ! syndromic disease -is_a: MONDO:0005073 {source="MONDO:cjm", source="NCIT:C4234/inferred"} ! melanocytic nevus +is_a: MONDO:0005073 {source="MONDO:cjm", source="NCIT:C4234/inferred", source="linkedlifedata/inferred"} ! melanocytic nevus property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2469/giant-congenital-nevus xsd:anyURI {source="GARD:0002469"} [Term] @@ -391292,16 +396846,20 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2495/glossopa [Term] id: MONDO:0023258 -name: glucose-6-phosphate translocase deficiency +name: glycogen storage disease type 1 due to SLC37A4 mutation def: "Any glycogen storage disease due to glucose-6-phosphatase deficiency in which the cause of the disease is a mutation in the SLC37A4 gene." [MONDO:patterns/disease_series_by_gene] +comment: This class may be deprecated in future. There are two types of GSDI: glycogen storage disease type Ia (GSDIa) and glycogen storage disease type Ib (GSDIb). Two other forms of GSDI have been described, and they were originally named types Ic and Id. However, these types are now known to be variations of GSDIb; for this reason, GSDIb is sometimes called GSD type I non-a. https://ghr.nlm.nih.gov/condition/glycogen-storage-disease-type-i subset: gard_rare -synonym: "G6P translocase deficiency" RELATED [GARD:0002501] +synonym: "G6P translocase deficiency" EXACT [GARD:0002501] +synonym: "glucose-6-phosphate translocase deficiency" EXACT [GARD:0002501] +synonym: "glycogen storage disease I caused by mutation in SLC37A4" EXACT [MONDO:design_pattern] +synonym: "SLC37A4 glycogen storage disease I" EXACT [MONDO:design_pattern] xref: GARD:0002501 {source="MONDO:equivalentTo"} xref: http://identifiers.org/hgnc/4061 {source="GARD:0002501"} xref: MESH:C536831 {source="MONDO:equivalentTo"} xref: UMLS:C2931345 {source="MEDGEN:kboom-pr98-c99", source="GARD:0002501", source="MONDO:equivalentTo"} -is_a: MONDO:0018220 {source="MESH:C536831", source="MONDO:Entailed"} ! glycogen storage disease due to glucose-6-phosphatase deficiency -intersection_of: MONDO:0018220 ! glycogen storage disease due to glucose-6-phosphatase deficiency +is_a: MONDO:0002413 {source="MESH:C536831", source="MONDO:Entailed"} ! glycogen storage disease I +intersection_of: MONDO:0002413 ! glycogen storage disease I intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/4061 ! SLC37A4 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2501/glucose-6-phosphate-translocase-deficiency xsd:anyURI {source="GARD:0002501"} @@ -391356,7 +396914,7 @@ xref: UMLS:C2931468 {source="GARD:0002557", source="MEDGEN:kboom-pr97-c99", sour is_a: MONDO:0002367 {source="MESH:C537292"} ! kidney cancer is_a: MONDO:0019721 {source="Orphanet:2111"} ! syndromic renal or urinary tract malformation is_a: MONDO:0019749 {source="Orphanet:2111"} ! rare renal tumor -is_a: MONDO:0021540 {source="MONDOLEX:0023275", source="SCTID:707530009", source="linkedlifedata"} ! hamartoma of lung +is_a: MONDO:0021540 {source="MONDOLEX:0023275", source="linkedlifedata"} ! hamartoma of lung property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2557/graham-boyle-troxell-syndrome xsd:anyURI {source="GARD:0002557"} [Term] @@ -391409,7 +396967,7 @@ xref: GARD:0008359 {source="MONDO:equivalentTo"} xref: ICD9:503 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:17385007 {source="MONDO:equivalentTo"} xref: UMLS:C0264439 {source="MEDGEN:kboom-pr98-c99", source="GARD:0008359", source="MONDO:equivalentTo"} -is_a: MONDO:0002771 {source="SCTID:17385007", source="linkedlifedata"} ! pulmonary fibrosis +is_a: MONDO:0002771 {source="linkedlifedata"} ! pulmonary fibrosis is_a: MONDO:0015926 ! pneumoconiosis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/8359/graphite-pneumoconiosis xsd:anyURI {source="GARD:0008359"} @@ -391448,7 +397006,7 @@ xref: ICD10:L40.4 {source="MONDO:equivalentTo"} xref: ICD9:696.1 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:37042000 {source="MONDO:equivalentTo"} xref: UMLS:C0343052 {source="GARD:0010569", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005083 {source="ICD10:L40.4", source="SCTID:37042000", source="linkedlifedata"} ! psoriasis +is_a: MONDO:0005083 {source="ICD10:L40.4", source="linkedlifedata"} ! psoriasis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10569/guttate-psoriasis xsd:anyURI {source="GARD:0010569"} [Term] @@ -391489,7 +397047,7 @@ xref: OMIM:602481 {source="GARD:0010768", source="MONDO:relatedTo"} xref: OMIM:609634 {source="GARD:0010768", source="MONDO:relatedTo"} xref: Orphanet:569 {source="GARD:0010768", source="MONDO:relatedTo"} xref: SCTID:59292006 {source="MONDO:equivalentTo"} -is_a: MONDO:0005475 {source="SCTID:59292006", source="linkedlifedata"} ! migraine with aura +is_a: MONDO:0005475 {source="linkedlifedata"} ! migraine with aura property_value: seeAlso https://rarediseases.info.nih.gov/diseases/10768/hemiplegic-migraine xsd:anyURI {source="GARD:0010768"} [Term] @@ -391568,7 +397126,7 @@ xref: NCIT:C26984 {source="MONDO:equivalentTo"} xref: SCTID:29689003 {source="MONDO:equivalentTo"} xref: UMLS:C0158353 {source="NCIT:C26984", source="GARD:0009131"} is_a: MONDO:0005550 {source="MONDO:cjm", source="linkedlifedata"} ! infectious disease -is_a: MONDO:0021167 {source="MONDOLEX:0023483", source="NCIT:C26984", source="linkedlifedata"} ! myositis +is_a: MONDO:0021167 {source="MONDOLEX:0023483", source="NCIT:C26984", source="linkedlifedata", source="linkedlifedata/inferred"} ! myositis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9131/infective-myositis xsd:anyURI {source="GARD:0009131"} [Term] @@ -391972,7 +397530,7 @@ xref: NCIT:C113615 {source="MONDO:equivalentTo"} xref: SCTID:62647006 {source="MONDO:equivalentTo"} xref: UMLS:C0423738 {source="GARD:0006899"} is_a: MONDO:0002254 {source="MONDOLEX:0023628"} ! syndromic disease -is_a: MONDO:0002519 {source="MESH:C535890"} ! anus disease +is_a: MONDO:0002519 {source="MESH:C535890", source="NCIT:C113615/inferred", source="linkedlifedata/inferred"} ! anus disease relationship: disease_has_feature MONDO:0001274 ! anal spasm relationship: disease_has_location UBERON:0001326 ! levator ani muscle property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6899/levator-syndrome xsd:anyURI {source="GARD:0006899"} @@ -392227,7 +397785,7 @@ xref: GARD:0009824 {source="MONDO:equivalentTo"} xref: MESH:C537374 {source="MONDO:equivalentTo"} xref: SCTID:414783007 {source="MONDO:equivalentTo"} xref: UMLS:C1533060 {source="GARD:0009824", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001280 {source="MESH:C537374", source="MONDOLEX:0023833", source="linkedlifedata"} ! choroiditis +is_a: MONDO:0001280 {source="MESH:C537374", source="MONDOLEX:0023833", source="linkedlifedata", source="linkedlifedata/inferred"} ! choroiditis property_value: seeAlso https://rarediseases.info.nih.gov/diseases/9824/multifocal-choroiditis xsd:anyURI {source="GARD:0009824"} [Term] @@ -392272,8 +397830,8 @@ synonym: "hereditary neurodegenerative disorder" EXACT [NCIT:C97073] xref: MESH:D020271 {source="MONDO:equivalentTo"} xref: NCIT:C97073 {source="MONDO:equivalentTo"} xref: UMLS:C3273225 {source="NCIT:C97073", source="MONDO:equivalentTo"} -is_a: MONDO:0002320 {source="NCIT:C97073"} ! congenital nervous system abnormality -is_a: MONDO:0005559 {source="MONDO:Redundant", source="NCIT:C97073"} ! neurodegenerative disease +is_a: MONDO:0002320 {source="NCIT:C97073"} ! congenital nervous system disorder +is_a: MONDO:0005559 {source="MESH:D020271", source="MONDO:Redundant", source="NCIT:C97073"} ! neurodegenerative disease intersection_of: MONDO:0005559 ! neurodegenerative disease intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -392282,11 +397840,12 @@ id: MONDO:0024238 name: cerebral degeneration def: "A neurodegenerative disease that involves the telencephalon." [MONDO:patterns/location] synonym: "cerebral degeneration" EXACT [SCTID:418143002] +synonym: "neurodegenerative disease of telencephalon" EXACT [MONDO:design_pattern] synonym: "telencephalon neurodegenerative disease" EXACT [MONDO:patterns/location] xref: ICD9:331.9 {source="i2s", source="MONDO:equivalentTo"} xref: SCTID:418143002 {source="MONDO:equivalentTo"} xref: UMLS:C0154671 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005560 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-03-06", source="linkedlifedata"} ! brain disease +is_a: MONDO:0005560 {source="MONDO:Entailed", source="OWLReasoner:Elk-2018-03-06", source="linkedlifedata", source="linkedlifedata/inferred"} ! brain disease intersection_of: MONDO:0005559 ! neurodegenerative disease intersection_of: disease_has_location UBERON:0001893 ! telencephalon @@ -392294,6 +397853,7 @@ intersection_of: disease_has_location UBERON:0001893 ! telencephalon id: MONDO:0024239 name: congenital anomaly of cardiovascular system def: "A disease that has its basis in the disruption of cardiovascular system development." [MONDO:patterns/basis_in_disruption_of_process] +synonym: "cardiovascular system development disease" EXACT [MONDO:design_pattern] synonym: "congenital anomaly of cardiovascular system" EXACT [] synonym: "congenital cardiovascular disorder" RELATED [] synonym: "disorder of cardiovascular system development" RELATED [MONDO:patterns/basis_in_disruption_of_process] @@ -392301,7 +397861,7 @@ xref: ICD9:747.89 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:747.9 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C35729 {source="MONDO:equivalentTo"} xref: SCTID:9904008 {source="MONDO:equivalentTo"} -is_a: MONDO:0004995 {source="linkedlifedata"} ! cardiovascular disease +is_a: MONDO:0004995 {source="NCIT:C35729/inferred", source="linkedlifedata"} ! cardiovascular disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0072358 ! cardiovascular system development @@ -392349,7 +397909,7 @@ xref: NCIT:C43345 {source="DOID:5570", source="MONDO:equivalentTo"} xref: SCTID:400208002 {source="DOID:5570"} xref: SCTID:403939009 {source="DOID:5570", source="MONDO:equivalentTo"} xref: UMLS:C1260964 {source="NCIT:C43345", source="DOID:5570"} -is_a: MONDO:0002206 {source="DOID:5570"} ! sweat gland cancer +is_a: MONDO:0002206 {source="DOID:5570", source="NCIT:C43345/inferred"} ! sweat gland cancer is_a: MONDO:0024240 {source="MONDOLEX:0024245", source="NCIT:C43345"} ! eccrine carcinoma [Term] @@ -392383,8 +397943,10 @@ synonym: "benign eccrine skin tumor" EXACT [NCIT:C6797] synonym: "benign eccrine tumor" EXACT [NCIT:C6797] synonym: "benign eccrine tumor of skin" EXACT [NCIT:C6797] synonym: "benign eccrine tumor of the skin" EXACT [NCIT:C6797] +synonym: "benign skin tumor with eccrine differentiation" EXACT [] synonym: "eccrine sweat gland neoplasm, benign" EXACT [MONDO:patterns/benign] xref: NCIT:C6797 {source="MONDO:equivalentTo"} +xref: SCTID:254715009 {source="MONDO:equivalentTo"} xref: UMLS:C0346021 {source="NCIT:C6797"} xref: UMLS:C1332493 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002090 {source="MONDO:Entailed", source="MONDOLEX:0024247", source="NCIT:C6797"} ! eccrine sweat gland neoplasm @@ -392424,7 +397986,7 @@ xref: SCTID:200983001 {source="MONDO:equivalentTo"} xref: UMLS:C0162853 {source="NCIT:C85013", source="GARD:0010265"} is_a: MONDO:0006547 ! exanthem (disease) is_a: MONDO:0006592 {source="MESH:D017514", source="MONDOLEX:0024249"} ! parapsoriasis -is_a: MONDO:0019293 {source="linkedlife"} ! skin vascular disease +is_a: MONDO:0019293 {source="linkedlifedata"} ! skin vascular disease [Term] id: MONDO:0024250 @@ -392445,7 +398007,7 @@ synonym: "parapsoriasis varioliformis acuta" RELATED [] synonym: "PLEVA" RELATED [] xref: ICD9:696.5 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:86487001 {source="MONDO:equivalentTo"} -is_a: MONDO:0006547 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlife/inferred"} ! exanthem (disease) +is_a: MONDO:0006547 {source="MONDO:Redundant", source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease) is_a: MONDO:0024249 ! pityriasis lichenoides [Term] @@ -392487,7 +398049,7 @@ synonym: "skin disease, genetic" RELATED [MESH:D012873] xref: MESH:D012873 {source="MONDO:equivalentTo"} xref: SCTID:239001006 {source="MONDO:equivalentTo"} is_a: MONDO:0003847 {source="MESH:D012873", source="linkedlife/inferred"} ! inherited genetic disease -is_a: MONDO:0005093 {source="MESH:D012873", source="linkedlife/inferred"} ! skin disease +is_a: MONDO:0005093 {source="MESH:D012873", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! skin disease intersection_of: MONDO:0005093 ! skin disease intersection_of: has_modifier MONDO:0021150 ! genetic @@ -392578,7 +398140,9 @@ id: MONDO:0024266 name: patent ductus arteriosus 3 def: "Any patent ductus arteriosus in which the cause of the disease is a mutation in the PRDM6 gene." [MONDO:patterns/disease_series_by_gene] synonym: "patent ductus arteriosus 3; PDA3" RELATED [OMIM:617039] +synonym: "patent ductus arteriosus caused by mutation in PRDM6" EXACT [MONDO:design_pattern] synonym: "PDA3" RELATED [OMIM:617039] +synonym: "PRDM6 patent ductus arteriosus" EXACT [MONDO:design_pattern] xref: OMIM:617039 {source="MONDO:equivalentTo"} xref: Orphanet:466729 {source="OMIM:617039", source="MONDO:subClassOf"} xref: UMLS:C4310753 {source="NCBI:mim2gene_medline", source="OMIM:617039"} @@ -392603,8 +398167,9 @@ is_a: MONDO:0006009 {source="NCIT:C34576"} ! viral encephalitis [Term] id: MONDO:0024268 name: superficial mycosis -def: "A mycosis that is limited to the stratum corneum and essentially elicits no inflammation." [https://www.ncbi.nlm.nih.gov/books/NBK7902] +def: "A mycosis that is limited to the stratum corneum and essentially elicits no inflammation." [https://www.ncbi.nlm.nih.gov/books/NBK7902/] synonym: "piedra" NARROW [DOID:0050133] +synonym: "Steroid-modified tinea infection" EXACT [DOID:0050133] synonym: "stratum corneum of epidermis fungal infectious disease" EXACT [MONDO:patterns/location] xref: COHD:4077081 {source="MONDO:equivalentTo"} xref: DOID:0050133 {source="MONDO:equivalentTo"} @@ -392617,10 +398182,11 @@ xref: SCTID:276206000 {source="DOID:0050133", source="MONDO:equivalentTo"} xref: SCTID:402135006 {source="DOID:0050133", source="MONDO:superClassOf"} xref: UMLS:C0031898 {source="DOID:0050133", source="MONDO:superClassOf"} xref: UMLS:C2980104 {source="DOID:0050133", source="MONDO:equivalentTo"} -is_a: MONDO:0002041 {source="DOID:0050133", source="MONDO:Redundant", source="linkedlifedata"} ! fungal infectious disease +is_a: MONDO:0002041 {source="DOID:0050133", source="MONDO:Redundant", source="linkedlifedata", source="linkedlifedata/inferred"} ! fungal infectious disease intersection_of: MONDO:0002041 ! fungal infectious disease intersection_of: disease_has_location UBERON:0002027 ! stratum corneum of epidermis -relationship: realized_in_response_to_stimulus NCBITaxon:4751 ! Fungi +relationship: disease_has_location UBERON:0002027 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! stratum corneum of epidermis +relationship: has_modifier MONDO:0045042 ! localized [Term] id: MONDO:0024270 @@ -392647,7 +398213,7 @@ synonym: "intestine parasitic helminthiasis infectious disease" EXACT [MONDO:pat xref: MESH:C531698 {source="MONDO:equivalentTo"} xref: SCTID:26249004 {source="MONDO:equivalentTo"} xref: UMLS:C0348287 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004664 {source="MESH:C531698", source="MONDO:Entailed"} ! helminthiasis +is_a: MONDO:0004664 {source="MESH:C531698", source="MONDO:Entailed", source="linkedlifedata"} ! helminthiasis is_a: MONDO:0024270 {source="MESH:C531698", source="MONDO:Entailed"} ! parasitic intestinal disease intersection_of: MONDO:0004664 ! helminthiasis intersection_of: disease_has_location UBERON:0000160 ! intestine @@ -392715,7 +398281,7 @@ synonym: "neonatal thrombocytopenia" EXACT [] synonym: "purpura of newborn" RELATED [] xref: MESH:D054098 {source="MONDO:equivalentTo"} xref: SCTID:82835005 {source="MONDO:equivalentTo"} -is_a: MONDO:0002049 {source="linkedlifedata"} ! thrombocytopenia +is_a: MONDO:0002049 {source="MESH:D054098", source="linkedlifedata"} ! thrombocytopenia [Term] id: MONDO:0024278 @@ -392741,7 +398307,7 @@ synonym: "endometritis, chronic" EXACT [MONDO:patterns/chronic] xref: NCIT:C102820 {source="MONDO:equivalentTo"} xref: SCTID:63922003 {source="MONDO:equivalentTo"} xref: UMLS:C0238104 {source="NCIT:C102820", source="MONDO:equivalentTo"} -is_a: MONDO:0000918 {source="MONDO:Entailed", source="NCIT:C102820"} ! endometritis +is_a: MONDO:0000918 {source="MONDO:Entailed", source="NCIT:C102820", source="linkedlifedata"} ! endometritis intersection_of: MONDO:0000918 ! endometritis intersection_of: has_modifier PATO:0001863 ! chronic @@ -392754,7 +398320,7 @@ synonym: "polyarticular arthritis" EXACT [NCIT:C26996] xref: NCIT:C26996 {source="MONDO:equivalentTo"} xref: SCTID:416956002 {source="MONDO:equivalentTo"} xref: UMLS:C0162323 {source="NCIT:C26996"} -is_a: MONDO:0005578 {source="MONDOLEX:0024280", source="NCIT:C26996"} ! arthritis +is_a: MONDO:0005578 {source="MONDOLEX:0024280", source="NCIT:C26996", source="linkedlifedata/inferred"} ! arthritis [Term] id: MONDO:0024281 @@ -392777,7 +398343,7 @@ xref: NCIT:C5242 {source="ONCOTREE:MOV"} xref: ONCOTREE:MOV {source="MONDO:equivalentTo"} xref: UMLS:C1335168 {source="ONCOTREE:MOV"} xref: UMLS:C1518233 {source="NCIT:C40033", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002229 {source="ONCOTREE:MOV"} ! ovarian epithelial tumor +is_a: MONDO:0002229 {source="NCIT:C40033/inferred", source="ONCOTREE:MOV"} ! ovarian epithelial tumor is_a: MONDO:0003756 {source="MONDO:Entailed", source="NCIT:C40033"} ! ovarian mucinous neoplasm is_a: MONDO:0018364 {source="MONDO:Redundant", source="NCIT:C40033"} ! malignant epithelial tumor of ovary intersection_of: MONDO:0003756 ! ovarian mucinous neoplasm @@ -392986,8 +398552,8 @@ xref: NCIT:C35772 {source="MONDO:equivalentTo"} xref: SCTID:85670002 {source="MONDO:equivalentTo"} xref: UMLS:C0376286 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C1510471 {source="NCIT:C35772", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005137 {source="MESH:D001361/inferred", source="MONDO:Redundant", source="NCIT:C35772", source="linkedlifedata"} ! nutritional disorder -is_a: MONDO:0006873 {source="MESH:D001361", source="MONDO:cjm", source="linkedlifedata"} ! nutritional deficiency disease +is_a: MONDO:0005137 {source="MESH:D001361/inferred", source="MONDO:Redundant", source="NCIT:C35772", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional disorder +is_a: MONDO:0006873 {source="MESH:D001361", source="MONDO:cjm", source="linkedlifedata", source="linkedlifedata/inferred"} ! nutritional deficiency disease [Term] id: MONDO:0024299 @@ -393026,6 +398592,7 @@ relationship: disease_has_feature HP:0002748 {source="ORDO-def"} ! Rickets id: MONDO:0024301 name: acquired mineral metabolism disease def: "An instance of mineral metabolism disease that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] +synonym: "mineral metabolism disease" RELATED [DOID:0050032] xref: DOID:0050032 {source="MONDO:equivalentTo"} is_a: MONDO:0006504 {source="DOID:0050032", source="MONDO:Entailed"} ! acquired metabolic disease intersection_of: MONDO:0000226 ! mineral metabolism disease @@ -393069,6 +398636,9 @@ property_value: seeAlso https://rarediseases.info.nih.gov/diseases/6752/ichthyos id: MONDO:0024305 name: acquired hyperprolactinemia def: "An instance of hyperprolactinemia (disease) that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] +synonym: "Chiari-Frommel syndrome" EXACT [DOID:12700] +synonym: "hyperprolactinaemia" EXACT [DOID:12700] +synonym: "hyperprolactinemia" RELATED [DOID:12700] synonym: "pregnancy-related A-G syndrome" EXACT [DOID:12700] xref: DOID:12700 {source="MONDO:equivalentTo"} xref: ICD10:E22.1 {source="DOID:12700", source="MONDO:relatedTo"} @@ -393083,6 +398653,7 @@ intersection_of: has_modifier MONDO:0021141 ! acquired id: MONDO:0024306 name: acquired lactic acidosis def: "An instance of lactic acidosis that is acquired during the lifetime of the individual." [MONDO:patterns/acquired] +synonym: "lactic acidosis" RELATED [DOID:3650] xref: DOID:3650 {source="EFO:1000036", source="MONDO:equivalentTo"} xref: EFO:1000036 {source="MONDO:equivalentTo"} xref: ICD10:E87.2 {source="DOID:3650"} @@ -393090,7 +398661,7 @@ xref: MESH:D000140 {source="DOID:3650", source="MONDO:relatedTo"} xref: NCIT:C98969 {source="DOID:3650"} xref: SCTID:91273001 {source="DOID:3650", source="MONDO:relatedTo"} xref: UMLS_CUI:C0001125 {source="DOID:3650"} -is_a: MONDO:0006504 {source="DOID:3650"} ! acquired metabolic disease +is_a: MONDO:0006504 {source="DOID:3650", source="DOID:3650/inferred"} ! acquired metabolic disease intersection_of: MONDO:0006040 ! lactic acidosis intersection_of: has_modifier MONDO:0021141 ! acquired @@ -393131,7 +398702,7 @@ xref: OMIM:201300 {source="DOID:0070155", source="MONDO:equivalentTo"} xref: Orphanet:970 {source="OMIM:201300", source="MONDO:subClassOf"} xref: UMLS:C0751540 {source="MedGen:148334", source="MONDO:relatedTo"} xref: UMLS:C2752089 {source="NCBI:mim2gene_medline", source="OMIM:201300"} -is_a: MONDO:0019941 {source="ORDO:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2 +is_a: MONDO:0019941 {source="DOID:0070155", source="ORDO:970/btnt"} ! hereditary sensory and autonomic neuropathy type 2 relationship: disease_shares_features_of MONDO:0008718 {source="PMID:13235976"} ! Morvan syndrome [Term] @@ -393174,7 +398745,7 @@ xref: MESH:D013203 {source="MONDO:equivalentTo"} xref: NCIT:C35038 {source="MONDO:equivalentTo"} xref: SCTID:56038003 {source="MONDO:equivalentTo"} xref: UMLS:C0038160 {source="NCIT:C35038"} -is_a: MONDO:0005113 {source="MONDO:Entailed", source="NCIT:C35038"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="MESH:D013203/inferred", source="MONDO:Entailed", source="NCIT:C35038", source="linkedlifedata/inferred"} ! bacterial infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:1279 ! Staphylococcus @@ -393198,7 +398769,7 @@ xref: ICD9:360.13 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C34587 {source="MONDO:equivalentTo"} xref: SCTID:57100005 {source="MONDO:equivalentTo"} xref: UMLS:C0014238 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C34587", source="MONDO:equivalentTo"} -is_a: MONDO:0005135 {source="MONDO:Redundant", source="NCIT:C34587", source="linkedlife/inferred"} ! parasitic infection +is_a: MONDO:0005135 {source="MONDO:Redundant", source="NCIT:C34587", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! parasitic infection is_a: MONDO:0016047 {source="MONDO:Entailed", source="NCIT:C34587"} ! endophthalmitis intersection_of: MONDO:0005135 ! parasitic infection intersection_of: MONDO:0016047 ! endophthalmitis @@ -393235,7 +398806,7 @@ xref: ICD10:A80.A89 {source="MONDO:equivalentTo"} xref: MESH:D020805 {source="MONDO:equivalentTo"} xref: SCTID:302810003 {source="MONDO:equivalentTo"} xref: UMLS:C0348165 {source="MONDO:equivalentTo"} -is_a: MONDO:0005550 {source="ICD10:A80.A89", source="MONDO:Redundant", source="linkedlife/inferred"} ! infectious disease +is_a: MONDO:0005550 {source="ICD10:A80.A89", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_location UBERON:0001017 ! central nervous system intersection_of: realized_in_response_to_stimulus NCBITaxon:10239 ! Viruses @@ -393333,7 +398904,7 @@ xref: MESH:D051436 {source="MONDO:equivalentTo"} xref: NCIT:C9438 {source="MONDO:equivalentTo"} xref: SCTID:90688005 {source="MONDO:equivalentTo"} xref: UMLS:C0022661 {source="NCIT:C9438", source="MONDO:subClassOf"} -is_a: MONDO:0001106 {source="MESH:D051436", source="MONDO:Entailed", source="NCIT:C9438", source="linkedlife"} ! kidney failure +is_a: MONDO:0001106 {source="MESH:D051436", source="MONDO:Entailed", source="NCIT:C9438", source="linkedlifedata"} ! kidney failure is_a: MONDO:0005300 {source="MONDO:Entailed", source="NCIT:C9438"} ! chronic kidney disease intersection_of: MONDO:0001106 ! kidney failure intersection_of: has_modifier PATO:0001863 ! chronic @@ -393380,7 +398951,7 @@ xref: DOID:0080199 {source="MONDO:equivalentTo"} xref: EFO:1001951 {source="DOID:0080199"} xref: NCIT:C2955 {source="DOID:0080199", source="MONDO:equivalentTo"} xref: UMLS:C0009402 {source="NCIT:C2955"} -is_a: MONDO:0005575 {source="DOID:0080199", source="MONDO:Entailed", source="MONDOLEX:0024331", source="NCIT:C2955"} ! colorectal cancer +is_a: MONDO:0005575 {source="DOID:0080199", source="DOID:0080199/inferred", source="MONDO:Entailed", source="MONDOLEX:0024331", source="NCIT:C2955"} ! colorectal cancer is_a: MONDO:0006181 {source="MONDO:Entailed", source="NCIT:C2955"} ! digestive system carcinoma intersection_of: MONDO:0004993 ! carcinoma intersection_of: disease_has_location UBERON:0012652 ! colorectum @@ -393395,7 +398966,7 @@ synonym: "perennial allergic rhinitis" EXACT [NCIT:C92189] xref: NCIT:C92189 {source="MONDO:equivalentTo"} xref: SCTID:446096008 {source="MONDO:equivalentTo"} xref: UMLS:C0035457 {source="NCIT:C92189", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0011786 {source="MONDOLEX:0024332", source="NCIT:C92189", source="linkedlife"} ! allergic rhinitis +is_a: MONDO:0011786 {source="MONDOLEX:0024332", source="NCIT:C92189", source="linkedlifedata"} ! allergic rhinitis [Term] id: MONDO:0024333 @@ -393411,8 +398982,8 @@ synonym: "sciatica, bilateral" RELATED [MESH:D012585] xref: ICD9:724.3 {source="i2s", source="MONDO:equivalentTo"} xref: MESH:D012585 {source="MONDO:equivalentTo"} xref: SCTID:23056005 {source="MONDO:equivalentTo"} -is_a: MONDO:0006960 {source="MESH:D012585", source="linkedlife"} ! sciatic neuropathy -is_a: MONDO:0021667 {source="MESH:D012585", source="linkedlife/inferred"} ! neuralgia +is_a: MONDO:0006960 {source="MESH:D012585", source="linkedlifedata"} ! sciatic neuropathy +is_a: MONDO:0021667 {source="MESH:D012585", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! neuralgia [Term] id: MONDO:0024334 @@ -393423,7 +398994,7 @@ is_a: MONDO:0005244 ! peripheral neuropathy id: MONDO:0024335 name: retrobulbar neuritis xref: SCTID:230507009 {source="MONDO:equivalentTo"} -is_a: MONDO:0005885 {source="linkedlife"} ! optic neuritis +is_a: MONDO:0005885 {source="linkedlifedata"} ! optic neuritis [Term] id: MONDO:0024336 @@ -393516,7 +399087,7 @@ synonym: "furfuracea" RELATED [] synonym: "pityriasis simplex" EXACT [] xref: ICD9:690.18 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:200767005 {source="MONDO:equivalentTo"} -is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred"} ! exanthem (disease) +is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease) relationship: disease_has_feature HP:0001051 ! Seborrheic dermatitis [Term] @@ -393526,7 +399097,7 @@ synonym: "pityriasis folliculorum" EXACT [] xref: ICD9:696.5 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:200993008 {source="MONDO:equivalentTo"} xref: UMLS:C0406312 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred"} ! exanthem (disease) +is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease) [Term] id: MONDO:0024345 @@ -393534,7 +399105,7 @@ name: pityriasis streptogenes synonym: "pityriasis streptogenes" EXACT [] xref: ICD9:696.5 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:200994002 {source="MONDO:equivalentTo"} -is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred"} ! exanthem (disease) +is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease) [Term] id: MONDO:0024346 @@ -393544,14 +399115,14 @@ synonym: "tinea amiantacea" RELATED [] xref: ICD9:696.5 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:238924007 {source="MONDO:equivalentTo"} xref: UMLS:C0343100 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred"} ! exanthem (disease) +is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease) [Term] id: MONDO:0024348 name: pityriasis capitis synonym: "pityriasis capitis" EXACT [] xref: SCTID:400201008 {source="MONDO:equivalentTo"} -is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred"} ! exanthem (disease) +is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease) [Term] id: MONDO:0024349 @@ -393559,7 +399130,7 @@ name: pityriasis alba synonym: "pityriasis alba" EXACT [] xref: ICD9:696.5 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:402296004 {source="MONDO:equivalentTo"} -is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred"} ! exanthem (disease) +is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease) [Term] id: MONDO:0024350 @@ -393568,7 +399139,7 @@ synonym: "pityriasis steatoides" EXACT [] xref: ICD9:696.5 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:403426003 {source="MONDO:equivalentTo"} xref: UMLS:C1274781 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred"} ! exanthem (disease) +is_a: MONDO:0006547 {source="MONDO:cjm", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! exanthem (disease) [Term] id: MONDO:0024351 @@ -393592,7 +399163,7 @@ xref: ICD9:519.8 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C27219 {source="MONDO:equivalentTo"} xref: SCTID:312133006 {source="MONDO:equivalentTo"} xref: UMLS:C0877203 {source="NCIT:C27219"} -is_a: MONDO:0005108 {source="MONDO:Entailed", source="NCIT:C27219", source="linkedlife/inferred"} ! viral infectious disease +is_a: MONDO:0005108 {source="MONDO:Entailed", source="NCIT:C27219", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! viral infectious disease intersection_of: MONDO:0005108 ! viral infectious disease intersection_of: disease_has_location UBERON:0000065 ! respiratory tract @@ -393606,9 +399177,9 @@ synonym: "Cytomegalovirus pneumonia" EXACT [NCIT:C35360] xref: NCIT:C35360 {source="MONDO:equivalentTo"} xref: SCTID:7678002 {source="MONDO:equivalentTo"} xref: UMLS:C0276253 {source="NCIT:C35360", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005132 {source="NCIT:C35360"} ! cytomegalovirus infection -is_a: MONDO:0005249 {source="MONDO:Redundant", source="NCIT:C35360"} ! pneumonia -is_a: MONDO:0024352 {source="MONDO:Redundant", source="NCIT:C35360"} ! viral respiratory tract infection +is_a: MONDO:0005132 {source="NCIT:C35360", source="linkedlifedata"} ! cytomegalovirus infection +is_a: MONDO:0005249 {source="MONDO:Redundant", source="NCIT:C35360", source="linkedlifedata/inferred"} ! pneumonia +is_a: MONDO:0024352 {source="MONDO:Redundant", source="NCIT:C35360", source="linkedlifedata/inferred"} ! viral respiratory tract infection intersection_of: MONDO:0005249 ! pneumonia intersection_of: realized_in_response_to_stimulus NCBITaxon:10358 ! Cytomegalovirus @@ -393640,9 +399211,9 @@ xref: ICD10:G47.31 {source="MONDO:equivalentTo"} xref: ICD9:327.21 {source="i2s", source="MONDO:equivalentTo"} xref: SCTID:9741000119101 {source="MONDO:equivalentTo"} xref: UMLS:C0751762 {source="MONDO:equivalentTo"} -is_a: MONDO:0003406 {source="ICD10:G47.31", source="MONDO:Redundant"} ! sleep-wake disorder -is_a: MONDO:0004731 {source="MONDOLEX:0024356", source="linkedlife"} ! central sleep apnea syndrome -is_a: MONDO:0005296 {source="ICD10:G47.31", source="MONDO:0024356/inferred", source="MONDO:Redundant", source="MONDOLEX:0024356/inferred", source="linkedlife/inferred"} ! sleep apnea syndrome +is_a: MONDO:0003406 {source="ICD10:G47.31", source="ICD10:G47.31/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! sleep-wake disorder +is_a: MONDO:0004731 {source="MONDOLEX:0024356", source="linkedlifedata"} ! central sleep apnea syndrome +is_a: MONDO:0005296 {source="ICD10:G47.31", source="MONDO:0024356/inferred", source="MONDO:Redundant", source="MONDOLEX:0024356/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! sleep apnea syndrome [Term] id: MONDO:0024357 @@ -393663,11 +399234,11 @@ synonym: "mixed sleep apnea" EXACT [] xref: DOID:0080302 {source="MONDO:equivalentTo"} xref: SCTID:230493001 {source="DOID:0080302", source="MONDO:equivalentTo"} xref: UMLS:C0338495 {source="DOID:0080302"} -is_a: MONDO:0004731 {source="MONDO:Entailed", source="PMID:23861580", source="linkedlife"} ! central sleep apnea syndrome -is_a: MONDO:0005296 {source="DOID:0080302", source="linkedlife/inferred"} ! sleep apnea syndrome -is_a: MONDO:0007147 {source="MONDO:Entailed", source="PMID:23861580", source="linkedlife"} ! obstructive sleep apnea syndrome -intersection_of: MONDO:0004731 {source="linkedlife"} ! central sleep apnea syndrome -intersection_of: MONDO:0007147 {source="linkedlife"} ! obstructive sleep apnea syndrome +is_a: MONDO:0004731 {source="MONDO:Entailed", source="PMID:23861580", source="linkedlifedata"} ! central sleep apnea syndrome +is_a: MONDO:0005296 {source="DOID:0080302", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! sleep apnea syndrome +is_a: MONDO:0007147 {source="MONDO:Entailed", source="PMID:23861580", source="linkedlifedata"} ! obstructive sleep apnea syndrome +intersection_of: MONDO:0004731 {source="linkedlifedata"} ! central sleep apnea syndrome +intersection_of: MONDO:0007147 {source="linkedlifedata"} ! obstructive sleep apnea syndrome [Term] id: MONDO:0024359 @@ -393677,8 +399248,8 @@ xref: ICD9:327.27 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:786.09 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:85721000119105 {source="MONDO:equivalentTo"} xref: UMLS:C3662057 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004731 {source="MONDOLEX:0024359", source="linkedlife"} ! central sleep apnea syndrome -is_a: MONDO:0005087 {source="MONDO:Redundant", source="linkedlife"} ! respiratory system disease +is_a: MONDO:0004731 {source="MONDOLEX:0024359", source="linkedlifedata"} ! central sleep apnea syndrome +is_a: MONDO:0005087 {source="MONDO:Redundant", source="linkedlifedata"} ! respiratory system disease [Term] id: MONDO:0024360 @@ -393687,7 +399258,7 @@ synonym: "central sleep apnea caused by high altitude" EXACT [] synonym: "central sleep apnea due to high altitude" RELATED [] xref: SCTID:91441000119109 {source="MONDO:equivalentTo"} xref: UMLS:C4075997 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004731 {source="MONDOLEX:0024360", source="linkedlife"} ! central sleep apnea syndrome +is_a: MONDO:0004731 {source="MONDOLEX:0024360", source="linkedlifedata"} ! central sleep apnea syndrome [Term] id: MONDO:0024361 @@ -393700,7 +399271,7 @@ xref: ICD10:G47.2 {source="MONDO:equivalentTo"} xref: ICD9:327.30 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C95071 {source="MONDO:equivalentTo"} xref: SCTID:3745000 {source="MONDO:equivalentTo"} -is_a: MONDO:0003406 {source="ICD10:G47.2", source="MONDO:Entailed"} ! sleep-wake disorder +is_a: MONDO:0003406 {source="ICD10:G47.2", source="MONDO:Entailed", source="NCIT:C95071", source="linkedlifedata/inferred"} ! sleep-wake disorder intersection_of: MONDO:0003406 ! sleep-wake disorder intersection_of: disease_has_basis_in_disruption_of GO:0007623 ! circadian rhythm @@ -393710,7 +399281,7 @@ name: rapid eye movement sleep disorder synonym: "repeated rapid eye movement sleep interruptions" EXACT [] xref: ICD9:379.59 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:192004002 {source="MONDO:equivalentTo"} -is_a: MONDO:0024361 {source="MONDO:Entailed", source="linkedlife"} ! circadian rhythm sleep disorder +is_a: MONDO:0024361 {source="MONDO:Entailed", source="linkedlifedata"} ! circadian rhythm sleep disorder intersection_of: MONDO:0003406 ! sleep-wake disorder intersection_of: disease_has_basis_in_disruption_of GO:0042747 ! circadian sleep/wake cycle, REM sleep @@ -393719,7 +399290,7 @@ id: MONDO:0024376 name: sleep disorder, initiating and maintaining sleep synonym: "disorders of initiating and maintaining sleep" EXACT [] xref: SCTID:194437008 {source="MONDO:equivalentTo"} -is_a: MONDO:0003406 {source="linkedlife"} ! sleep-wake disorder +is_a: MONDO:0003406 {source="linkedlifedata"} ! sleep-wake disorder [Term] id: MONDO:0024377 @@ -393735,8 +399306,8 @@ xref: DOID:0111141 {source="MONDO:equivalentTo"} xref: ICD10:G47.21 {source="MONDO:equivalentTo"} xref: SCTID:28011000119104 {source="MONDO:equivalentTo"} xref: UMLS:C0393770 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0003406 {source="DOID:0111141", source="ICD10:G47.21", source="MONDO:Redundant"} ! sleep-wake disorder -is_a: MONDO:0024361 {source="ICD10:G47.21", source="MONDOLEX:0024377", source="linkedlife"} ! circadian rhythm sleep disorder +is_a: MONDO:0003406 {source="DOID:0111141", source="ICD10:G47.21", source="ICD10:G47.21/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! sleep-wake disorder +is_a: MONDO:0024361 {source="ICD10:G47.21", source="MONDOLEX:0024377", source="linkedlifedata"} ! circadian rhythm sleep disorder [Term] id: MONDO:0024378 @@ -393750,8 +399321,8 @@ synonym: "sleep-wake schedule disorder, advanced phase type" EXACT [] xref: ICD10:G47.22 {source="MONDO:equivalentTo"} xref: ICD9:327.32 {source="i2s", source="MONDO:equivalentTo"} xref: SCTID:31537005 {source="MONDO:equivalentTo"} -is_a: MONDO:0003406 {source="ICD10:G47.22", source="MONDO:Redundant"} ! sleep-wake disorder -is_a: MONDO:0024361 {source="ICD10:G47.22", source="MONDOLEX:0024378", source="linkedlife"} ! circadian rhythm sleep disorder +is_a: MONDO:0003406 {source="ICD10:G47.22", source="ICD10:G47.22/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! sleep-wake disorder +is_a: MONDO:0024361 {source="ICD10:G47.22", source="MONDOLEX:0024378", source="linkedlifedata"} ! circadian rhythm sleep disorder [Term] id: MONDO:0024379 @@ -393764,8 +399335,8 @@ xref: ICD10:G47.23 {source="MONDO:equivalentTo"} xref: ICD9:327.33 {source="i2s", source="MONDO:equivalentTo"} xref: SCTID:271793004 {source="MONDO:equivalentTo"} xref: UMLS:C0393771 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003406 {source="ICD10:G47.23", source="MONDO:Redundant"} ! sleep-wake disorder -is_a: MONDO:0024361 {source="ICD10:G47.23", source="MONDOLEX:0024379", source="linkedlife"} ! circadian rhythm sleep disorder +is_a: MONDO:0003406 {source="ICD10:G47.23", source="ICD10:G47.23/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! sleep-wake disorder +is_a: MONDO:0024361 {source="ICD10:G47.23", source="MONDOLEX:0024379", source="linkedlifedata"} ! circadian rhythm sleep disorder [Term] id: MONDO:0024381 @@ -393774,7 +399345,7 @@ def: "A circadian sleep disorder that results from travelling across time zones. synonym: "jet lag" EXACT [https://www.circadiansleepdisorders.org/defs.php#defJetLag] xref: ICD10:G47.25 {source="MONDO:equivalentTo"} xref: UMLS:C0231311 {source="MONDO:equivalentTo"} -is_a: MONDO:0003406 {source="ICD10:G47.25", source="MONDO:Redundant"} ! sleep-wake disorder +is_a: MONDO:0003406 {source="ICD10:G47.25", source="ICD10:G47.25/inferred", source="MONDO:Redundant"} ! sleep-wake disorder is_a: MONDO:0024361 {source="ICD10:G47.25", source="MONDOLEX:0024381"} ! circadian rhythm sleep disorder [Term] @@ -393785,8 +399356,8 @@ synonym: "circadian rhythm sleep disorder of shift work type" EXACT [] synonym: "shift work disorder" EXACT [https://www.circadiansleepdisorders.org/defs.php#SWD] xref: ICD10:G47.26 {source="MONDO:equivalentTo"} xref: SCTID:713498009 {source="MONDO:equivalentTo"} -is_a: MONDO:0003406 {source="ICD10:G47.26", source="MONDO:Redundant"} ! sleep-wake disorder -is_a: MONDO:0024361 {source="ICD10:G47.26", source="MONDOLEX:0024382", source="linkedlife"} ! circadian rhythm sleep disorder +is_a: MONDO:0003406 {source="ICD10:G47.26", source="ICD10:G47.26/inferred", source="MONDO:Redundant", source="linkedlifedata/inferred"} ! sleep-wake disorder +is_a: MONDO:0024361 {source="ICD10:G47.26", source="MONDOLEX:0024382", source="linkedlifedata"} ! circadian rhythm sleep disorder [Term] id: MONDO:0024385 @@ -393844,9 +399415,9 @@ xref: EFO:1000874 {source="MONDO:equivalentTo"} xref: ICD9:040.89 {source="i2s", source="MONDO:relatedTo"} xref: MESH:D003015 {source="EFO:1000874", source="MONDO:equivalentTo"} xref: SCTID:56688005 {source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="EFO:1000874", source="MESH:D003015/inferred", source="MONDO:Redundant", source="linkedlife/inferred"} ! bacterial infectious disease -is_a: MONDO:0021679 {source="MESH:D003015", source="linkedlife"} ! gram-positive bacterial infections -is_a: MONDO:0024389 {source="linkedlife"} ! anaerobic bacteria infectious disease +is_a: MONDO:0005113 {source="EFO:1000874", source="MESH:D003015/inferred", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0021679 {source="MESH:D003015", source="linkedlifedata"} ! gram-positive bacterial infections +is_a: MONDO:0024389 {source="linkedlifedata"} ! anaerobic bacteria infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:1485 ! Clostridium @@ -393860,7 +399431,7 @@ synonym: "infection due to anaerobic bacteria" EXACT [] xref: ICD9:041.84 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:423451008 {source="MONDO:equivalentTo"} xref: UMLS:C0854328 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005113 {source="MONDOLEX:0024389", source="linkedlife"} ! bacterial infectious disease +is_a: MONDO:0005113 {source="MONDOLEX:0024389", source="linkedlifedata"} ! bacterial infectious disease [Term] id: MONDO:0024390 @@ -393874,7 +399445,7 @@ name: anaerobic balanitis synonym: "anaerobic balanitis" EXACT [] xref: SCTID:236746000 {source="MONDO:equivalentTo"} xref: UMLS:C0403764 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0024389 {source="MONDO:Entailed", source="linkedlife"} ! anaerobic bacteria infectious disease +is_a: MONDO:0024389 {source="MONDO:Entailed", source="linkedlifedata"} ! anaerobic bacteria infectious disease intersection_of: MONDO:0006672 ! balanitis intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease @@ -393892,8 +399463,8 @@ synonym: "Bifidobacterium infection" RELATED [] synonym: "infection caused by Bifidobacterium" EXACT [] xref: SCTID:721759009 {source="MONDO:equivalentTo"} xref: UMLS:C1096283 {source="MONDO:equivalentTo"} -is_a: MONDO:0021679 {source="linkedlife"} ! gram-positive bacterial infections -is_a: MONDO:0024389 {source="linkedlife"} ! anaerobic bacteria infectious disease +is_a: MONDO:0021679 {source="linkedlifedata"} ! gram-positive bacterial infections +is_a: MONDO:0024389 {source="linkedlifedata"} ! anaerobic bacteria infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:1678 ! Bifidobacterium @@ -393905,7 +399476,7 @@ synonym: "Peptostreptococcus infection" EXACT [] xref: ICD9:041.84 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:135341000119101 {source="MONDO:equivalentTo"} xref: UMLS:C1096562 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0024389 {source="linkedlife"} ! anaerobic bacteria infectious disease +is_a: MONDO:0024389 {source="linkedlifedata"} ! anaerobic bacteria infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:1257 ! Peptostreptococcus @@ -393917,7 +399488,7 @@ xref: ICD9:041.84 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:682.9 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:238401006 {source="MONDO:equivalentTo"} xref: UMLS:C0241828 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0024389 {source="MONDO:Entailed", source="linkedlife"} ! anaerobic bacteria infectious disease +is_a: MONDO:0024389 {source="MONDO:Entailed", source="linkedlifedata"} ! anaerobic bacteria infectious disease intersection_of: MONDO:0005230 ! cellulitis (disease) intersection_of: MONDO:0024389 ! anaerobic bacteria infectious disease @@ -393970,7 +399541,7 @@ synonym: "inflammatory enthesopathy" EXACT [] xref: NCIT:C114470 {source="MONDO:equivalentTo"} xref: SCTID:359643005 {source="MONDO:equivalentTo"} xref: UMLS:C1282952 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C114470"} -is_a: MONDO:0002183 {source="MONDO:Entailed", source="linkedlife"} ! enthesopathy +is_a: MONDO:0002183 {source="MONDO:Entailed", source="linkedlifedata"} ! enthesopathy intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0035845 ! enthesis @@ -394008,6 +399579,7 @@ synonym: "processing disorder, auditory" NARROW [MESH:D001308] synonym: "processing disorders, auditory" NARROW [MESH:D001308] synonym: "Psychoacoustical disorder" NARROW [MESH:D001308] synonym: "Psychoacoustical disorders" NARROW [MESH:D001308] +synonym: "sensory perception of sound disease" EXACT [MONDO:design_pattern] xref: MESH:D001308 {source="MONDO:equivalentTo"} xref: NCIT:C84575 {source="MONDO:equivalentTo"} xref: SCTID:229752008 {source="MONDO:equivalentTo"} @@ -394048,27 +399620,37 @@ id: MONDO:0024431 name: bilirubin metabolism disease synonym: "disorder of bilirubin metabolism" EXACT [] xref: SCTID:80006005 {source="MONDO:equivalentTo"} -is_a: MONDO:0005066 {source="linkedlife/inferred"} ! metabolic disease +is_a: MONDO:0005066 {source="linkedlife/inferred", source="linkedlifedata/inferred"} ! metabolic disease relationship: disease_disrupts GO:0015723 ! bilirubin transport [Term] id: MONDO:0024432 name: nerve plexus disease +alt_id: MONDO:0002733 def: "A disease that involves the nerve plexus." [MONDO:patterns/location] synonym: "disease of nerve plexus" EXACT [MONDO:patterns/location_top] synonym: "disorder of nerve plexus" RELATED [MONDO:patterns/location_top] synonym: "nerve plexus disease" EXACT [MONDO:patterns/location] +synonym: "nerve plexus disease or disorder" EXACT [MONDO:design_pattern] synonym: "nerve plexus disorder" EXACT [] synonym: "plexopathy" EXACT [MONDO:cjm] +xref: DOID:3688 {source="MONDO:equivalentTo"} +xref: NCIT:C27744 {source="DOID:3688", source="MONDO:kboom-pr-1.00/0.87/15.87", source="MONDO:equivalentTo"} xref: SCTID:2231001 {source="MONDO:equivalentTo"} -is_a: MONDO:0005244 {source="linkedlife"} ! peripheral neuropathy +xref: UMLS:C1335437 {source="DOID:3688", source="NCIT:C27744", source="MONDO:equivalentTo"} +is_a: MONDO:0005244 {source="linkedlifedata"} ! peripheral neuropathy intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001810 ! nerve plexus +relationship: excluded_subClassOf MONDO:0005559 {source="DOID:3688"} ! neurodegenerative disease +relationship: excluded_subClassOf MONDO:0024236 {source="NCIT:C27744"} ! degenerative disorder [Term] id: MONDO:0024454 name: sacral nerve plexus disease def: "A disease that involves the sacral nerve plexus." [MONDO:patterns/location] +synonym: "disease of sacral nerve plexus" EXACT [MONDO:design_pattern] +synonym: "disorder of sacral nerve plexus" EXACT [MONDO:design_pattern] +synonym: "sacral nerve plexus disease or disorder" EXACT [MONDO:design_pattern] synonym: "sacral nerve plexus disorder" EXACT [] synonym: "sacral plexopathy" EXACT [] xref: GARD:0007597 {source="MONDO:equivalentTo"} @@ -394083,18 +399665,20 @@ id: MONDO:0024455 name: autosomal dominant Robinow syndrome 1 def: "Any autosomal dominant Robinow syndrome in which the cause of the disease is a mutation in the WNT5A gene." [MONDO:patterns/disease_series_by_gene] synonym: "acral dysostosis with Facial and genital abnormalities" RELATED [OMIM:180700] +synonym: "autosomal dominant Robinow syndrome caused by mutation in WNT5A" EXACT [MONDO:design_pattern] synonym: "DRS1" RELATED [OMIM:180700] synonym: "fetal face syndrome" RELATED [OMIM:180700] synonym: "Robinow dwarfism" RELATED [OMIM:180700] synonym: "Robinow syndrome, autosomal dominant 1" RELATED [OMIM:180700] synonym: "Robinow syndrome, autosomal dominant 1; DRS1" RELATED [OMIM:180700] +synonym: "WNT5A autosomal dominant Robinow syndrome" EXACT [MONDO:design_pattern] xref: DOID:0060766 {source="MONDO:equivalentTo"} xref: OMIM:180700 {source="MONDO:equivalentTo"} xref: Orphanet:3107 {source="MONDO:subClassOf", source="OMIM:180700"} xref: Orphanet:97360 {source="MONDO:subClassOf", source="OMIM:180700"} xref: UMLS:C0265205 {source="MONDO:subClassOf", source="OMIM:180700"} is_a: MONDO:0008389 {source="MONDO:Entailed", source="MONDOLEX:0024455", source="Orphanet:3107"} ! autosomal dominant Robinow syndrome -is_a: MONDO:0019978 {source="MONDO:Redundant", source="OMIM:180700"} ! Robinow syndrome +is_a: MONDO:0019978 {source="DOID:0060766", source="MONDO:Redundant", source="OMIM:180700"} ! Robinow syndrome intersection_of: MONDO:0008389 ! autosomal dominant Robinow syndrome intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12784 ! WNT5A relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/12784 {source="mim2gene_medgen"} ! WNT5A @@ -394108,6 +399692,7 @@ subset: gard_rare synonym: "anterior segment dysgenesis 3" EXACT [MESH:C535535] synonym: "anterior segment dysgenesis 3; ASGD3" RELATED [OMIM:601631] synonym: "ASGD3" RELATED [MESH:C535535, OMIM:601631] +synonym: "FOXC1 iridogoniodysgenesis" EXACT [MONDO:design_pattern] synonym: "glaucoma iridogoniodysgenesia" RELATED [GARD:0002482] synonym: "glaucoma iridogoniodysplasia, familial" RELATED [MESH:C535535, OMIM:601631] synonym: "IGDA" RELATED [MESH:C535535] @@ -394118,6 +399703,7 @@ synonym: "IRID1" NARROW [MESH:C535535, MONDO:Lexical, OMIM:601631] synonym: "IRID1" RELATED [MESH:C535535] synonym: "iridogoniodysgenesis Anomaly, autosomal dominant" RELATED [OMIM:601631] synonym: "iridogoniodysgenesis anomaly, autosomal dominant" RELATED [MESH:C535535] +synonym: "iridogoniodysgenesis caused by mutation in FOXC1" EXACT [MONDO:design_pattern] synonym: "iridogoniodysgenesis type 1" NARROW [DOID:0050786] synonym: "iridogoniodysgenesis type 2" NARROW [DOID:0050786] synonym: "iridogoniodysgenesis, type 1" NARROW [MESH:C535535, MONDO:Lexical, OMIM:601631] @@ -394168,7 +399754,7 @@ xref: GARD:0002751 {source="MONDO:equivalentTo"} xref: OMIM:256600 {source="DOID:0110735", source="Orphanet:35069", source="MONDO:equivalentTo", source="GARD:0002751"} xref: Orphanet:35069 {source="OMIM:256600", source="MONDO:relatedTo"} xref: UMLS:C0270724 {source="OMIM:256600", source="NCBI:mim2gene_medline", source="Orphanet:35069"} -is_a: MONDO:0018307 {source="MEDIC", source="MONDO:Redundant", source="OMIM:256600", source="Orphanet:35069"} ! neurodegeneration with brain iron accumulation +is_a: MONDO:0018307 {source="DOID:0110735", source="MEDIC", source="MONDO:Redundant", source="OMIM:256600", source="Orphanet:35069"} ! neurodegeneration with brain iron accumulation relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/9039 {source="mim2gene_medgen"} ! PLA2G6 property_value: seeAlso https://rarediseases.info.nih.gov/diseases/2751/hunter-carpenter-macdonald-syndrome xsd:anyURI {source="GARD:0002751"} @@ -394180,9 +399766,10 @@ synonym: "disease of visual system" EXACT [MONDO:patterns/location_top] synonym: "disorder of visual system" EXACT [MONDO:patterns/location_top] synonym: "disorder of visual system" RELATED [MONDO:patterns/location_top] synonym: "visual system disease" EXACT [MONDO:patterns/location] +synonym: "visual system disease or disorder" EXACT [MONDO:design_pattern] synonym: "visual system disorder" EXACT [] xref: SCTID:128127008 {source="MONDO:equivalentTo"} -is_a: MONDO:0021199 {source="MONDO:metaclass"} ! disease by anatomical system +is_a: MONDO:0021199 {source="MONDO:metaclass", source="linkedlifedata"} ! disease by anatomical system intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002104 ! visual system @@ -394248,9 +399835,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/39 id: MONDO:0024464 name: pituitary hormone deficiency, combined, 1 def: "Any combined pituitary hormone deficiencies, genetic form in which the cause of the disease is a mutation in the POU1F1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "combined pituitary hormone deficiencies, genetic form caused by mutation in POU1F1" EXACT [MONDO:design_pattern] synonym: "CPHD1" RELATED [OMIM:613038] synonym: "pituitary hormone deficiency, combined 1" RELATED [GARD:0010601] synonym: "pituitary hormone deficiency, combined, 1; CPHD1" RELATED [OMIM:613038] +synonym: "POU1F1 combined pituitary hormone deficiencies, genetic form" EXACT [MONDO:design_pattern] xref: GARD:0010601 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: MESH:C567803 {source="MONDO:equivalentTo"} xref: OMIM:613038 {source="MONDO:equivalentTo"} @@ -394306,6 +399895,7 @@ id: MONDO:0024468 name: anterior pituitary gland disease def: "A disease that involves the adenohypophysis." [MONDO:patterns/location] synonym: "adenohypophysis disease" EXACT [MONDO:patterns/location] +synonym: "adenohypophysis disease or disorder" EXACT [MONDO:design_pattern] synonym: "disease of adenohypophysis" EXACT [MONDO:patterns/location_top] synonym: "disorder of adenohypophysis" RELATED [MONDO:patterns/location_top] synonym: "disorder of anterior pituitary" EXACT [] @@ -394313,7 +399903,7 @@ synonym: "disorder of anterior pituitary gland" RELATED [] xref: ICD9:253.4 {source="i2s", source="MONDO:relatedTo"} xref: ICD9:253.9 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:51742006 {source="MONDO:equivalentTo"} -is_a: MONDO:0003381 {source="MONDO:Entailed", source="linkedlife"} ! pituitary gland disease +is_a: MONDO:0003381 {source="MONDO:Entailed", source="linkedlifedata"} ! pituitary gland disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002196 ! adenohypophysis relationship: disease_has_feature HP:0000830 ! Anterior hypopituitarism @@ -394381,6 +399971,7 @@ synonym: "marseilles fever" EXACT [DOID:14095, PMID:18760001] synonym: "Mediterranean spotted fever" EXACT [DOID:14095, Orphanet:83313, PMID:18760001] synonym: "Mediterranean tick fever" EXACT [DOID:14095, PMID:18760001] synonym: "Rickettsia conorii spotted fever" BROAD [DOID:14095, PMID:18760001] +synonym: "South African tick-bite fever" EXACT [DOID:14095] synonym: "South African tick-bite fever (disorder)" NARROW [DOID:14095, PMID:18760001, SCTID:415561000] synonym: "tick typhus due to rickettsia conorii" EXACT [PMID:18760001] xref: DOID:14095 {source="EFO:0007179", source="MONDO:equivalentTo"} @@ -394398,9 +399989,9 @@ xref: SCTID:186780002 {source="DOID:14095"} xref: SCTID:414658000 {source="DOID:14095"} xref: SCTID:59742009 {source="DOID:14095"} xref: UMLS:C0006060 {source="ORDO:83313/e", source="DOID:14095", source="Orphanet:83313", source="MONDO:equivalentTo"} -is_a: MONDO:0001195 {source="DOID:14095", source="MONDO:Redundant", source="Orphanet:101334", source="Orphanet:83313", source="linkedlife"} ! spotted fever -is_a: MONDO:0005113 {source="EFO:0007179", source="MESH:D001907/inferred", source="MONDO:Redundant", source="linkedlife/inferred"} ! bacterial infectious disease -is_a: MONDO:0006956 {source="MESH:D001907", source="MONDO:Redundant", source="Orphanet:101334/inferred", source="Orphanet:83313/inferred", source="linkedlife", source="linkedlife/inferred"} ! rickettsiosis +is_a: MONDO:0001195 {source="DOID:14095", source="MONDO:Redundant", source="Orphanet:101334", source="Orphanet:83313", source="linkedlifedata"} ! spotted fever +is_a: MONDO:0005113 {source="DOID:14095/inferred", source="EFO:0007179", source="MESH:D001907/inferred", source="MONDO:Redundant", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bacterial infectious disease +is_a: MONDO:0006956 {source="MESH:D001907", source="MONDO:Redundant", source="Orphanet:101334/inferred", source="Orphanet:83313/inferred", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! rickettsiosis intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:319546 ! Rickettsia conorii subsp. conorii @@ -394480,7 +400071,7 @@ name: dermatosis of eyelid synonym: "dermatosis of eyelid" EXACT [] xref: SCTID:402700001 {source="MONDO:equivalentTo"} xref: UMLS:C1274150 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003382 {source="linkedlife"} ! eyelid disease +is_a: MONDO:0003382 {source="linkedlifedata"} ! eyelid disease relationship: disease_has_location UBERON:0001711 ! eyelid [Term] @@ -394728,6 +400319,7 @@ id: MONDO:0024501 name: appendix neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the appendix. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C60709] synonym: "appendix neuroendocrine neoplasm" EXACT [NCIT:C60709] +synonym: "neuroendocrine neoplasm of vermiform appendix" EXACT [MONDO:design_pattern] synonym: "vermiform appendix neuroendocrine neoplasm" EXACT [MONDO:patterns/location] xref: NCIT:C60709 {source="MONDO:equivalentTo"} xref: UMLS:C1879718 {source="NCIT:C60709"} @@ -394741,6 +400333,7 @@ name: gallbladder neuroendocrine neoplasm def: "A neoplasm with neuroendocrine differentiation that arises from the gallbladder. It includes well differentiated neuroendocrine tumors (low and intermediate grade) and poorly differentiated neuroendocrine carcinomas (high grade)." [NCIT:C96917] synonym: "gall bladder neuroendocrine neoplasm" EXACT [MONDO:patterns/location] synonym: "gallbladder neuroendocrine neoplasm" EXACT [NCIT:C96917] +synonym: "neuroendocrine neoplasm of gall bladder" EXACT [MONDO:design_pattern] xref: NCIT:C96917 {source="MONDO:equivalentTo"} xref: UMLS:C3273115 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C96917"} is_a: MONDO:0021253 {source="MONDO:Entailed", source="NCIT:C96917"} ! gallbladder neoplasm @@ -394755,6 +400348,7 @@ synonym: "alimentary part of gastrointestinal system neuroendocrine neoplasm" EX synonym: "digestive system neuroendocrine neoplasm" EXACT [NCIT:C27721] synonym: "gastrointestinal neuroendocrine neoplasm" EXACT [NCIT:C27721] synonym: "gastrointestinal system neuroendocrine neoplasm" EXACT [NCIT:C27721] +synonym: "neuroendocrine neoplasm of alimentary part of gastrointestinal system" EXACT [MONDO:design_pattern] xref: NCIT:C27721 {source="MONDO:equivalentTo"} xref: UMLS:C1333799 {source="NCIT:C27721"} is_a: MONDO:0019496 {source="MONDO:Redundant", source="NCIT:C27721"} ! neuroendocrine neoplasm @@ -394800,7 +400394,7 @@ synonym: "disorder of anatomical" RELATED [] synonym: "disorder of organism subdivision" RELATED [MONDO:patterns/location_top] xref: SCTID:123946008 {source="MONDO:equivalentTo"} xref: UMLS:C1290853 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0000001 ! disease or disorder +is_a: MONDO:0000001 {source="linkedlifedata"} ! disease or disorder [Term] id: MONDO:0024506 @@ -394808,10 +400402,12 @@ name: Adams-Oliver syndrome 1 def: "Any Adams-Oliver syndrome in which the cause of the disease is a mutation in the ARHGAP31 gene." [MONDO:patterns/disease_series_by_gene] synonym: "absence defect of limbs, scalp, and skull" RELATED [OMIM:100300] synonym: "Adams-Oliver syndrome 1; AOS1" RELATED [OMIM:100300] +synonym: "Adams-Oliver syndrome caused by mutation in ARHGAP31" EXACT [MONDO:design_pattern] synonym: "AOS" RELATED [OMIM:100300] synonym: "AOS1" RELATED [OMIM:100300] synonym: "aplasia cutis congenita with terminal transverse limb defects" RELATED [OMIM:100300] synonym: "aplasia cutis congenita, congenital heart defect, and frontonasal cysts" RELATED [OMIM:100300] +synonym: "ARHGAP31 Adams-Oliver syndrome" EXACT [MONDO:design_pattern] synonym: "congenital scalp defects with distal limb reduction anomalies" RELATED [OMIM:100300] xref: OMIM:100300 {source="MONDO:equivalentTo"} xref: Orphanet:974 {source="OMIM:100300", source="MONDO:subClassOf"} @@ -394829,8 +400425,8 @@ name: aniridia 1 synonym: "an" RELATED [OMIM:106210] synonym: "AN1" RELATED [OMIM:106210] synonym: "aniridia 1; AN1" RELATED [OMIM:106210] -synonym: "aniridia Ii" RELATED [OMIM:106210] -synonym: "aniridia Ii, formerly" RELATED [OMIM:106210] +synonym: "aniridia II" RELATED [OMIM:106210] +synonym: "aniridia II, formerly" RELATED [OMIM:106210] synonym: "cataract, congenital, with late-onset corneal dystrophy" RELATED [OMIM:106210] xref: OMIM:106210 {source="MONDO:equivalentTo"} xref: Orphanet:250923 {source="MONDO:subClassOf", source="OMIM:106210"} @@ -394895,7 +400491,7 @@ synonym: "secondary thrombocytosis" EXACT [https://www.mayoclinic.org/diseases-c xref: ICD9:286.9 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:234500001 {source="MONDO:equivalentTo"} xref: UMLS:C0457506 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002249 {source="MONDO:cjm", source="linkedlife"} ! thrombocytosis disease +is_a: MONDO:0002249 {source="MONDO:cjm", source="linkedlifedata"} ! thrombocytosis disease [Term] id: MONDO:0024519 @@ -394946,8 +400542,10 @@ synonym: "amyloidosis, familial cutaneous lichen" RELATED [OMIM:105250] synonym: "amyloidosis, primary cutaneous, 1" RELATED [OMIM:105250] synonym: "amyloidosis, primary localized cutaneous, 1; PLCA1" RELATED [OMIM:105250] synonym: "lichen amyloidosis, familial" RELATED [OMIM:105250] +synonym: "OSMR primary cutaneous amyloidosis" EXACT [MONDO:design_pattern] synonym: "PCA" RELATED [OMIM:105250] synonym: "PLCA1" RELATED [OMIM:105250] +synonym: "primary cutaneous amyloidosis caused by mutation in OSMR" EXACT [MONDO:design_pattern] xref: OMIM:105250 {source="MONDO:equivalentTo"} xref: Orphanet:353220 {source="OMIM:105250", source="MONDO:subClassOf"} xref: UMLS:C0268398 {source="OMIM:105250", source="NCBI:mim2gene_medline", source="MONDO:equivalentTo"} @@ -394964,10 +400562,12 @@ def: "Any aortic valve disease in which the cause of the disease is a mutation i synonym: "aortic stenosis, calcific" RELATED [OMIM:109730] synonym: "aortic valve disease" RELATED [OMIM:109730] synonym: "aortic valve disease 1; AOVD1" RELATED [OMIM:109730] +synonym: "aortic valve disease caused by mutation in NOTCH1" EXACT [MONDO:design_pattern] synonym: "aortic valve, bicuspid" RELATED [OMIM:109730] synonym: "aortic valve, calcification of" RELATED [OMIM:109730] synonym: "AOVD1" RELATED [OMIM:109730] synonym: "bicuspid aortic valve" RELATED [OMIM:109730] +synonym: "NOTCH1 aortic valve disease" EXACT [MONDO:design_pattern] xref: OMIM:109730 {source="MONDO:equivalentTo"} xref: Orphanet:402075 {source="MONDO:subClassOf", source="OMIM:109730"} xref: UMLS:C0149630 {source="OMIM:109730"} @@ -395013,8 +400613,10 @@ id: MONDO:0024526 name: Zimmermann-Laband syndrome 1 def: "Any Zimmermann-Laband syndrome in which the cause of the disease is a mutation in the KCNH1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "fibromatosis, gingival, with abnormal fingers, fingernails, Nose, and ears, and splenomegaly" RELATED [OMIM:135500] +synonym: "KCNH1 Zimmermann-Laband syndrome" EXACT [MONDO:design_pattern] synonym: "Laband syndrome" RELATED [OMIM:135500] synonym: "Zimmermann-Laband syndrome 1; ZLS1" RELATED [OMIM:135500] +synonym: "Zimmermann-Laband syndrome caused by mutation in KCNH1" EXACT [MONDO:design_pattern] synonym: "ZLS1" RELATED [OMIM:135500] xref: OMIM:135500 {source="MONDO:equivalentTo"} xref: Orphanet:3473 {source="MONDO:subClassOf", source="OMIM:135500"} @@ -395041,7 +400643,9 @@ is_a: MONDO:0007671 {source="OMIM:137950"} ! fibronectin glomerulopathy id: MONDO:0024528 name: progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal dominant 1 def: "Any autosomal dominant progressive external ophthalmoplegia in which the cause of the disease is a mutation in the POLG gene." [MONDO:patterns/disease_series_by_gene] +synonym: "autosomal dominant progressive external ophthalmoplegia caused by mutation in POLG" EXACT [MONDO:design_pattern] synonym: "PEOA1" RELATED [OMIM:157640] +synonym: "POLG autosomal dominant progressive external ophthalmoplegia" EXACT [MONDO:design_pattern] synonym: "progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 1; PEOA1" RELATED [OMIM:157640] synonym: "progressive external ophthalmoplegia, autosomal dominant 1" RELATED [OMIM:157640] xref: OMIM:157640 {source="MONDO:equivalentTo"} @@ -395101,8 +400705,10 @@ name: myopathy, tubular aggregate, 1 def: "Any tubular aggregate myopathy in which the cause of the disease is a mutation in the STIM1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "Myopathy, tubular aggregate" RELATED [OMIM:160565] synonym: "MYOPATHY, tubular aggregate, 1; TAM1" RELATED [OMIM:160565] +synonym: "STIM1 tubular aggregate myopathy" EXACT [MONDO:design_pattern] synonym: "TAM1" RELATED [OMIM:160565] synonym: "tubular aggregate Myopathy" RELATED [OMIM:160565] +synonym: "tubular aggregate myopathy caused by mutation in STIM1" EXACT [MONDO:design_pattern] xref: OMIM:160565 {source="MONDO:equivalentTo"} xref: Orphanet:2593 {source="OMIM:160565", source="MONDO:subClassOf"} xref: UMLS:C0410207 {source="OMIM:160565", source="Orphanet:2593", source="NCBI:mim2gene_medline", source="ORDO:2593/e"} @@ -395115,10 +400721,13 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11 [Term] id: MONDO:0024532 name: otofaciocervical syndrome 1 +def: "Any otofaciocervical syndrome in which the cause of the disease is a mutation in the EYA1 gene." [MONDO:design_pattern] +synonym: "EYA1 otofaciocervical syndrome" EXACT [MONDO:design_pattern] synonym: "OFC" RELATED [OMIM:166780] synonym: "OFC1" RELATED [OMIM:166780] synonym: "OTFCS" RELATED [OMIM:166780] synonym: "OTOFACIOCERVICAL syndrome 1; OTFCS" RELATED [OMIM:166780] +synonym: "otofaciocervical syndrome caused by mutation in EYA1" EXACT [MONDO:design_pattern] xref: OMIM:166780 {source="MONDO:equivalentTo"} xref: Orphanet:2792 {source="OMIM:166780", source="MONDO:subClassOf"} xref: UMLS:C3714941 {source="OMIM:166780", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -395132,9 +400741,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/35 id: MONDO:0024533 name: pulmonary hypertension, primary, 1 def: "Any primary pulmonary hypertension in which the cause of the disease is a mutation in the BMPR2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "BMPR2 primary pulmonary hypertension" EXACT [MONDO:design_pattern] synonym: "PHT" RELATED [OMIM:178600] synonym: "PPH1" RELATED [OMIM:178600] synonym: "Pph1 with Hht" RELATED [OMIM:178600] +synonym: "primary pulmonary hypertension caused by mutation in BMPR2" EXACT [MONDO:design_pattern] synonym: "pulmonary arterial hypertension" RELATED [OMIM:178600] synonym: "pulmonary hypertension, primary, 1, with hereditary hemorrhagic telangiectasia" RELATED [OMIM:178600] synonym: "pulmonary hypertension, primary, 1; PPH1" RELATED [OMIM:178600] @@ -395160,6 +400771,8 @@ def: "Any Dowling-Degos disease in which the cause of the disease is a mutation synonym: "DDD" RELATED [OMIM:179850] synonym: "DDD1" RELATED [OMIM:179850] synonym: "Dowling-Degos disease 1; DDD1" RELATED [OMIM:179850] +synonym: "Dowling-Degos disease caused by mutation in KRT5" EXACT [MONDO:design_pattern] +synonym: "KRT5 Dowling-Degos disease" EXACT [MONDO:design_pattern] synonym: "reticular pigment Anomaly of flexures" RELATED [OMIM:179850] xref: OMIM:179850 {source="MONDO:equivalentTo"} xref: Orphanet:79145 {source="OMIM:179850", source="MONDO:subClassOf"} @@ -395174,12 +400787,14 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/64 id: MONDO:0024535 name: Singleton-Merten syndrome 1 def: "Any singleton-Merten dysplasia in which the cause of the disease is a mutation in the IFIH1 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "IFIH1 singleton-Merten dysplasia" EXACT [MONDO:design_pattern] synonym: "SGMRT1" RELATED [OMIM:182250] +synonym: "singleton-Merten dysplasia caused by mutation in IFIH1" EXACT [MONDO:design_pattern] synonym: "singleton-Merten syndrome 1; SGMRT1" RELATED [OMIM:182250] xref: OMIM:182250 {source="MONDO:equivalentTo"} xref: Orphanet:85191 {source="OMIM:182250", source="MONDO:subClassOf"} xref: UMLS:C4225427 {source="NCBI:mim2gene_medline", source="OMIM:182250", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0008429 ! singleton-Merten dysplasia +is_a: MONDO:0008429 {source="OMIM:182250"} ! singleton-Merten dysplasia intersection_of: MONDO:0008429 ! singleton-Merten dysplasia intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18873 ! IFIH1 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18873 {source="mim2gene_medgen"} ! IFIH1 @@ -395188,12 +400803,13 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/18 id: MONDO:0024536 name: glucocorticoid deficiency 1 def: "Any familial glucocorticoid deficiency in which the cause of the disease is a mutation in the MC2R gene." [MONDO:patterns/disease_series_by_gene] -comment: Editor note: TODO OMIMPS synonym: "ACTH resistance" RELATED [OMIM:202200] synonym: "adrenal unresponsiveness to ACTH" RELATED [OMIM:202200] synonym: "familial glucocorticoid deficiency 1" RELATED [OMIM:202200] +synonym: "familial glucocorticoid deficiency caused by mutation in MC2R" EXACT [MONDO:design_pattern] synonym: "GCCD1" RELATED [OMIM:202200] synonym: "glucocorticoid deficiency 1; GCCD1" RELATED [OMIM:202200] +synonym: "MC2R familial glucocorticoid deficiency" EXACT [MONDO:design_pattern] xref: OMIM:202200 {source="MONDO:equivalentTo"} xref: Orphanet:361 {source="OMIM:202200", source="MONDO:subClassOf"} xref: UMLS:C1859974 {source="NCBI:mim2gene_medline", source="OMIM:202200", source="MONDO:equivalentTo"} @@ -395208,9 +400824,11 @@ id: MONDO:0024537 name: Brown-Vialetto-van Laere syndrome 1 def: "Any Brown-Vialetto-van Laere syndrome in which the cause of the disease is a mutation in the SLC52A3 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BROWN-Vialetto-VAN Laere syndrome 1; BVVLS1" RELATED [OMIM:211530] +synonym: "Brown-Vialetto-van Laere syndrome caused by mutation in SLC52A3" EXACT [MONDO:design_pattern] synonym: "bulbar palsy, progressive, with sensorineural deafness" RELATED [OMIM:211530] synonym: "BVVLS1" RELATED [OMIM:211530] synonym: "pontobulbar palsy with deafness" RELATED [OMIM:211530] +synonym: "SLC52A3 Brown-Vialetto-van Laere syndrome" EXACT [MONDO:design_pattern] xref: NCIT:C133724 {source="MONDO:equivalentTo"} xref: OMIM:211530 {source="MONDO:equivalentTo"} xref: Orphanet:97229 {source="OMIM:211530", source="MONDO:subClassOf"} @@ -395248,9 +400866,11 @@ id: MONDO:0024539 name: choroidal dystrophy, central areolar, 1 def: "Any central areolar choroidal dystrophy in which the cause of the disease is a mutation in the GUCY2D gene." [MONDO:patterns/disease_series_by_gene] synonym: "CACD1" RELATED [OMIM:215500] +synonym: "central areolar choroidal dystrophy caused by mutation in GUCY2D" EXACT [MONDO:design_pattern] synonym: "choroidal dystrophy, central areolar" RELATED [OMIM:215500] synonym: "choroidal dystrophy, central areolar, 1; CACD1" RELATED [OMIM:215500] synonym: "choroidal sclerosis" RELATED [OMIM:215500] +synonym: "GUCY2D central areolar choroidal dystrophy" EXACT [MONDO:design_pattern] xref: OMIM:215500 {source="MONDO:equivalentTo"} xref: Orphanet:75377 {source="OMIM:215500", source="MONDO:subClassOf"} xref: UMLS:C0344297 {source="NCBI:mim2gene_medline"} @@ -395267,7 +400887,9 @@ def: "Any Jervell and Lange-Nielsen syndrome in which the cause of the disease i synonym: "Cardioauditory syndrome of Jervell and Lange-Nielsen" RELATED [OMIM:220400] synonym: "deafness, congenital, and functional heart disease" RELATED [OMIM:220400] synonym: "Jervell and Lange-Nielsen syndrome 1; JLNS1" RELATED [OMIM:220400] +synonym: "Jervell and Lange-Nielsen syndrome caused by mutation in KCNQ1" EXACT [MONDO:design_pattern] synonym: "JLNS1" RELATED [OMIM:220400] +synonym: "KCNQ1 Jervell and Lange-Nielsen syndrome" EXACT [MONDO:design_pattern] synonym: "prolonged QT interval 1N Ekg and sudden death" RELATED [OMIM:220400] synonym: "Surdo-Cardiac syndrome" RELATED [OMIM:220400] xref: OMIM:220400 {source="MONDO:equivalentTo"} @@ -395288,7 +400910,9 @@ synonym: "diarrhea, fatal infantile, with trichorrhexis nodosa" RELATED [OMIM:22 synonym: "diarrhea, syndromic" RELATED [OMIM:222470] synonym: "The syndrome" RELATED [OMIM:222470] synonym: "THES1" RELATED [OMIM:222470] +synonym: "tricho-hepato-enteric syndrome caused by mutation in TTC37" EXACT [MONDO:design_pattern] synonym: "TRICHOHEPATOENTERIC syndrome 1; THES1" RELATED [OMIM:222470] +synonym: "TTC37 tricho-hepato-enteric syndrome" EXACT [MONDO:design_pattern] xref: OMIM:222470 {source="MONDO:equivalentTo"} xref: Orphanet:84064 {source="MONDO:subClassOf", source="OMIM:222470"} xref: UMLS:C1857276 {source="MONDO:subClassOf", source="OMIM:222470"} @@ -395308,6 +400932,8 @@ synonym: "cerebellar ataxia, congenital, and mental retardation, autosomal reces synonym: "cerebellar ataxia, mental retardation, and dysequilibrium syndrome 1; CAMRQ1" RELATED [OMIM:224050] synonym: "cerebellar hypoplasia, VLDLR-associated" RELATED [OMIM:224050] synonym: "dysequilibrium syndrome" RELATED [OMIM:224050] +synonym: "dysequilibrium syndrome caused by mutation in VLDLR" EXACT [MONDO:design_pattern] +synonym: "VLDLR dysequilibrium syndrome" EXACT [MONDO:design_pattern] xref: OMIM:224050 {source="MONDO:equivalentTo"} xref: Orphanet:1766 {source="OMIM:224050", source="MONDO:subClassOf"} xref: UMLS:C0394006 {source="OMIM:224050"} @@ -395323,11 +400949,13 @@ name: brittle cornea syndrome 1 def: "Any brittle cornea syndrome in which the cause of the disease is a mutation in the ZNF469 gene." [MONDO:patterns/disease_series_by_gene] synonym: "BCS1" RELATED [OMIM:229200] synonym: "brittle cornea syndrome 1; BCS1" RELATED [OMIM:229200] +synonym: "brittle cornea syndrome caused by mutation in ZNF469" EXACT [MONDO:design_pattern] synonym: "corneal fragility, keratoglobus, blue sclerae, Joint hyperextensibility" RELATED [OMIM:229200] synonym: "dysgenesis Mesodermalis corneae Et sclerae" RELATED [OMIM:229200] synonym: "Ehlers-Danlos syndrome, type Vib" RELATED [OMIM:229200] synonym: "Ehlers-Danlos syndrome, type Vib, formerly" RELATED [OMIM:229200] synonym: "Fragilitas oculi with Joint hyperextensibility" RELATED [OMIM:229200] +synonym: "ZNF469 brittle cornea syndrome" EXACT [MONDO:design_pattern] xref: OMIM:229200 {source="MONDO:equivalentTo"} xref: Orphanet:90354 {source="OMIM:229200", source="MONDO:subClassOf"} xref: SCTID:31798004 {source="MONDO:equivalentTo"} @@ -395355,8 +400983,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/88 id: MONDO:0024545 name: Miyoshi muscular dystrophy 1 def: "Any Miyoshi myopathy in which the cause of the disease is a mutation in the DYSF gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DYSF Miyoshi myopathy" EXACT [MONDO:design_pattern] synonym: "MIYOSHI muscular dystrophy 1; MMD1" RELATED [OMIM:254130] synonym: "Miyoshi Myopathy" RELATED [OMIM:254130] +synonym: "Miyoshi myopathy caused by mutation in DYSF" EXACT [MONDO:design_pattern] synonym: "MMD1" RELATED [OMIM:254130] synonym: "muscular dystrophy, distal, late-onset, autosomal recessive" RELATED [OMIM:254130] xref: OMIM:254130 {source="MONDO:equivalentTo"} @@ -395375,11 +401005,13 @@ def: "Any primary hypertrophic osteoarthropathy in which the cause of the diseas synonym: "Cranioosteoarthropathy" RELATED [OMIM:259100] synonym: "Currarino idiopathic osteoarthropathy" RELATED [OMIM:259100] synonym: "familial idiopathic osteoarthropathy of childhood" RELATED [OMIM:259100] +synonym: "HPGD primary hypertrophic osteoarthropathy" EXACT [MONDO:design_pattern] synonym: "hypertrophic osteoarthropathy, primary, autosomal recessive, 1; PHOAR1" RELATED [OMIM:259100] synonym: "Pachydermoperiostosis, autosomal recessive" RELATED [OMIM:259100] synonym: "PDP, autosomal recessive" RELATED [OMIM:259100] synonym: "Pho, autosomal recessive" RELATED [OMIM:259100] synonym: "PHOAR1" RELATED [OMIM:259100] +synonym: "primary hypertrophic osteoarthropathy caused by mutation in HPGD" EXACT [MONDO:design_pattern] synonym: "Touraine-Solente-Gole syndrome" RELATED [OMIM:259100] xref: OMIM:259100 {source="MONDO:equivalentTo"} xref: Orphanet:1525 {source="MONDO:directSiblingOf", source="OMIM:259100"} @@ -395395,10 +401027,13 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/51 [Term] id: MONDO:0024547 name: pancreatic agenesis 1 +def: "Any pancreatic agenesis in which the cause of the disease is a mutation in the PDX1 gene." [MONDO:design_pattern] synonym: "Pagen" RELATED [OMIM:260370] synonym: "PAGEN1" RELATED [OMIM:260370] synonym: "pancreatic agenesis 1; PAGEN1" RELATED [OMIM:260370] +synonym: "pancreatic agenesis caused by mutation in PDX1" EXACT [MONDO:design_pattern] synonym: "pancreatic hypoplasia, congenital" RELATED [OMIM:260370] +synonym: "PDX1 pancreatic agenesis" EXACT [MONDO:design_pattern] xref: OMIM:260370 {source="MONDO:equivalentTo"} xref: Orphanet:2805 {source="OMIM:260370", source="MONDO:subClassOf"} xref: UMLS:C1850096 {source="OMIM:260370", source="NCBI:mim2gene_medline", source="Orphanet:2805", source="MONDO:subClassOf"} @@ -395412,9 +401047,11 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/61 id: MONDO:0024548 name: peeling skin syndrome 1 def: "Any peeling skin syndrome in which the cause of the disease is a mutation in the CDSN gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CDSN peeling skin syndrome" EXACT [MONDO:design_pattern] synonym: "deciduous skin" RELATED [OMIM:270300] synonym: "keratolysis exfoliativa congenita" RELATED [OMIM:270300] synonym: "peeling skin syndrome 1; PSS1" RELATED [OMIM:270300] +synonym: "peeling skin syndrome caused by mutation in CDSN" EXACT [MONDO:design_pattern] synonym: "PSS" RELATED [OMIM:270300] synonym: "PSS1" RELATED [OMIM:270300] synonym: "skin peeling, familial continuous generalized" RELATED [OMIM:270300] @@ -395445,9 +401082,11 @@ is_a: MONDO:0010303 {source="MONDOLEX:0024549"} ! colobomatous microphthalmia id: MONDO:0024550 name: frontometaphyseal dysplasia 1 def: "Any frontometaphyseal dysplasia in which the cause of the disease is a mutation in the FLNA gene." [MONDO:patterns/disease_series_by_gene] +synonym: "FLNA frontometaphyseal dysplasia" EXACT [MONDO:design_pattern] synonym: "Fmd" RELATED [OMIM:305620] synonym: "FMD1" RELATED [OMIM:305620] synonym: "FRONTOMETAPHYSEAL dysplasia 1; FMD1" RELATED [OMIM:305620] +synonym: "frontometaphyseal dysplasia caused by mutation in FLNA" EXACT [MONDO:design_pattern] xref: OMIM:305620 {source="MONDO:equivalentTo"} xref: Orphanet:1826 {source="OMIM:305620", source="MONDO:subClassOf"} xref: UMLS:C0265293 {source="Orphanet:1826", source="NCBI:mim2gene_medline", source="OMIM:305620", source="ORDO:1826/e"} @@ -395485,9 +401124,11 @@ id: MONDO:0024552 name: linear skin defects with multiple congenital anomalies 1 def: "Any microphthalmia with linear skin defects syndrome in which the cause of the disease is a mutation in the HCCS gene." [MONDO:patterns/disease_series_by_gene] comment: Editor note: this is in two OMIMPSs, see notes on parent +synonym: "HCCS microphthalmia with linear skin defects syndrome" EXACT [MONDO:design_pattern] synonym: "linear skin defects with multiple congenital anomalies 1; LSDMCA1" RELATED [OMIM:309801] synonym: "LSDMCA1" RELATED [OMIM:309801] synonym: "microphthalmia with linear skin defects" RELATED [OMIM:309801] +synonym: "microphthalmia with linear skin defects syndrome caused by mutation in HCCS" EXACT [MONDO:design_pattern] synonym: "microphthalmia, dermal aplasia, and sclerocornea" RELATED [OMIM:309801] synonym: "microphthalmia, syndromic 7" RELATED [OMIM:309801] synonym: "Midas syndrome" RELATED [OMIM:309801] @@ -395506,6 +401147,8 @@ def: "Any myopathy, lactic acidosis, and sideroblastic anemia in which the cause synonym: "mitochondrial Myopathy and sideroblastic Anemia" RELATED [OMIM:600462] synonym: "MLASA1" RELATED [OMIM:600462] synonym: "MYOPATHY, lactic acidosis, and sideroblastic ANEMIA 1; MLASA1" RELATED [OMIM:600462] +synonym: "myopathy, lactic acidosis, and sideroblastic anemia caused by mutation in PUS1" EXACT [MONDO:design_pattern] +synonym: "PUS1 myopathy, lactic acidosis, and sideroblastic anemia" EXACT [MONDO:design_pattern] xref: OMIM:600462 {source="MONDO:equivalentTo"} xref: Orphanet:2598 {source="OMIM:600462", source="MONDO:subClassOf"} xref: UMLS:C1838103 {source="OMIM:600462", source="NCBI:mim2gene_medline", source="ORDO:2598/e", source="Orphanet:2598", source="MONDO:equivalentTo"} @@ -395520,7 +401163,9 @@ id: MONDO:0024554 name: D-2-hydroxyglutaric aciduria 1 def: "Any D-2-hydroxyglutaric aciduria in which the cause of the disease is a mutation in the D2HGDH gene." [MONDO:patterns/disease_series_by_gene] synonym: "D-2-hydroxyglutaric aciduria 1; D2HGA1" RELATED [OMIM:600721] +synonym: "D-2-hydroxyglutaric aciduria caused by mutation in D2HGDH" EXACT [MONDO:design_pattern] synonym: "D2HGA1" RELATED [OMIM:600721] +synonym: "D2HGDH D-2-hydroxyglutaric aciduria" EXACT [MONDO:design_pattern] xref: OMIM:600721 {source="MONDO:equivalentTo"} xref: Orphanet:79315 {source="OMIM:600721", source="MONDO:subClassOf"} xref: UMLS:C3152055 {source="NCBI:mim2gene_medline", source="OMIM:600721", source="MONDO:equivalentTo"} @@ -395551,8 +401196,10 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/26 id: MONDO:0024556 name: epilepsy, familial focal, with variable foci 1 def: "Any epilepsy, familial focal, with variable foci in which the cause of the disease is a mutation in the DEPDC5 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "DEPDC5 epilepsy, familial focal, with variable foci" EXACT [MONDO:design_pattern] synonym: "epilepsy, familial focal, with variable foci" RELATED [OMIM:604364] synonym: "epilepsy, familial focal, with variable foci 1; FFEVF1" RELATED [OMIM:604364] +synonym: "epilepsy, familial focal, with variable foci caused by mutation in DEPDC5" EXACT [MONDO:design_pattern] synonym: "epilepsy, partial, with variable foci" RELATED [OMIM:604364] synonym: "FFEVF1" RELATED [OMIM:604364] xref: OMIM:604364 {source="MONDO:equivalentTo"} @@ -395568,8 +401215,10 @@ id: MONDO:0024557 name: ataxia-telangiectasia-like disorder 1 def: "Any ataxia-telangiectasia-like disorder in which the cause of the disease is a mutation in the MRE11 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ataxia-telangiectasia-LIKE disorder 1; ATLD1" RELATED [OMIM:604391] +synonym: "ataxia-telangiectasia-like disorder caused by mutation in MRE11" EXACT [MONDO:design_pattern] synonym: "Atld" RELATED [OMIM:604391] synonym: "ATLD1" RELATED [OMIM:604391] +synonym: "MRE11 ataxia-telangiectasia-like disorder" EXACT [MONDO:design_pattern] xref: OMIM:604391 {source="MONDO:equivalentTo"} xref: Orphanet:251347 {source="OMIM:604391", source="MONDO:subClassOf"} xref: UMLS:C1858391 {source="NCBI:mim2gene_medline", source="OMIM:604391", source="Orphanet:251347", source="MONDO:equivalentTo"} @@ -395583,6 +401232,8 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/72 id: MONDO:0024558 name: radioulnar synostosis with amegakaryocytic thrombocytopenia 1 def: "Any radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome in which the cause of the disease is a mutation in the HOXA11 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "HOXA11 radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome" EXACT [MONDO:design_pattern] +synonym: "radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome caused by mutation in HOXA11" EXACT [MONDO:design_pattern] synonym: "radioulnar synostosis with amegakaryocytic thrombocytopenia 1; RUSAT1" RELATED [OMIM:605432] synonym: "Rusat" RELATED [OMIM:605432] synonym: "RUSAT1" RELATED [OMIM:605432] @@ -395631,6 +401282,8 @@ def: "Any vitelliform macular dystrophy in which the cause of the disease is a m synonym: "foveomacular dystrophy, adult-onset" RELATED [OMIM:608161] synonym: "foveomacular dystrophy, adult-onset, with or without choroidal neovascularization" RELATED [OMIM:608161] synonym: "macular dystrophy, vitelliform, 3; VMD3" RELATED [OMIM:608161] +synonym: "PRPH2 vitelliform macular dystrophy" EXACT [MONDO:design_pattern] +synonym: "vitelliform macular dystrophy caused by mutation in PRPH2" EXACT [MONDO:design_pattern] synonym: "vitelliform macular dystrophy, adult-onset" RELATED [OMIM:608161] synonym: "VMD3" RELATED [OMIM:608161] xref: OMIM:608161 {source="MONDO:equivalentTo"} @@ -395646,7 +401299,9 @@ relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/99 id: MONDO:0024562 name: sick sinus syndrome 1 def: "Any sick sinus syndrome in which the cause of the disease is a mutation in the SCN5A gene." [MONDO:patterns/disease_series_by_gene] +synonym: "SCN5A sick sinus syndrome" EXACT [MONDO:design_pattern] synonym: "sick sinus syndrome 1; SSS1" RELATED [OMIM:608567] +synonym: "sick sinus syndrome caused by mutation in SCN5A" EXACT [MONDO:design_pattern] synonym: "sick sinus syndrome, congenital" RELATED [OMIM:608567] synonym: "sinus bradycardia syndrome, familial" RELATED [OMIM:608567] synonym: "sinus node disease, familial, autosomal recessive" RELATED [OMIM:608567] @@ -395668,8 +401323,10 @@ def: "Any herpes simplex encephalitis in which the cause of the disease is a mut synonym: "encephalopathy, acute, infection-induced (Herpes-specific), susceptibility to, 1" RELATED [OMIM:610551] synonym: "encephalopathy, acute, infection-induced (HERPES-specific), susceptibility to, 1; IIAE1" RELATED [OMIM:610551] synonym: "encephalopathy, acute, infection-induced, susceptibility to, 1" RELATED [OMIM:610551] +synonym: "herpes simplex encephalitis caused by mutation in UNC93B1" EXACT [MONDO:design_pattern] synonym: "herpes simplex encephalitis, susceptibility to, 1" EXACT [OMIM:610551] synonym: "IIAE1" RELATED [OMIM:610551] +synonym: "UNC93B1 herpes simplex encephalitis" EXACT [MONDO:design_pattern] xref: OMIM:610551 {source="MONDO:equivalentTo"} xref: Orphanet:1930 {source="OMIM:610551", source="MONDO:subClassOf"} xref: UMLS:C2750180 {source="NCBI:mim2gene_medline", source="OMIM:610551"} @@ -395685,8 +401342,10 @@ name: cerebroretinal microangiopathy with calcifications and cysts 1 def: "Any Coats plus syndrome in which the cause of the disease is a mutation in the CTC1 gene." [MONDO:patterns/disease_series_by_gene] synonym: "cerebroretinal microangiopathy with calcifications and cysts 1; CRMCC1" RELATED [OMIM:612199] synonym: "Coats plus syndrome" RELATED [OMIM:612199] +synonym: "Coats plus syndrome caused by mutation in CTC1" EXACT [MONDO:design_pattern] synonym: "Crmcc" RELATED [OMIM:612199] synonym: "CRMCC1" RELATED [OMIM:612199] +synonym: "CTC1 Coats plus syndrome" EXACT [MONDO:design_pattern] xref: OMIM:612199 {source="MONDO:equivalentTo"} xref: Orphanet:313838 {source="OMIM:612199", source="MONDO:subClassOf"} xref: UMLS:C2677299 {source="OMIM:612199", source="NCBI:mim2gene_medline", source="Orphanet:313838"} @@ -395700,7 +401359,9 @@ id: MONDO:0024565 name: ectodermal dysplasia-syndactyly syndrome 1 def: "Any ectodermal dysplasia-syndactyly syndrome in which the cause of the disease is a mutation in the NECTIN4 gene." [MONDO:patterns/disease_series_by_gene] synonym: "ectodermal dysplasia-syndactyly syndrome 1; EDSS1" RELATED [OMIM:613573] +synonym: "ectodermal dysplasia-syndactyly syndrome caused by mutation in NECTIN4" EXACT [MONDO:design_pattern] synonym: "EDSS1" RELATED [OMIM:613573] +synonym: "NECTIN4 ectodermal dysplasia-syndactyly syndrome" EXACT [MONDO:design_pattern] xref: OMIM:613573 {source="MONDO:equivalentTo"} xref: Orphanet:247820 {source="MONDO:subClassOf", source="OMIM:613573"} xref: UMLS:C3150807 {source="NCBI:mim2gene_medline", source="OMIM:613573", source="MONDO:equivalentTo"} @@ -395727,8 +401388,10 @@ id: MONDO:0024567 name: hypotonia, infantile, with psychomotor retardation and characteristic facies 1 def: "Any hypotonia, infantile, with psychomotor retardation and characteristic facies in which the cause of the disease is a mutation in the NALCN gene." [MONDO:patterns/disease_series_by_gene] synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies 1; IHPRF1" RELATED [OMIM:615419] +synonym: "hypotonia, infantile, with psychomotor retardation and characteristic facies caused by mutation in NALCN" EXACT [MONDO:design_pattern] synonym: "Ihprf" RELATED [OMIM:615419] synonym: "IHPRF1" RELATED [OMIM:615419] +synonym: "NALCN hypotonia, infantile, with psychomotor retardation and characteristic facies" EXACT [MONDO:design_pattern] xref: OMIM:615419 {source="MONDO:equivalentTo"} xref: Orphanet:371364 {source="MONDO:subClassOf", source="OMIM:615419"} xref: UMLS:C3809454 {source="NCBI:mim2gene_medline", source="OMIM:615419", source="MONDO:equivalentTo"} @@ -395745,9 +401408,11 @@ def: "Any infantile liver failure in which the cause of the disease is a mutatio subset: ordo_disease {source="Orphanet:370088"} synonym: "acute infantile liver failure-multisystemic involvement syndrome" RELATED [] synonym: "ILFS1" RELATED [MONDO:Lexical, OMIM:615438] +synonym: "infantile liver failure caused by mutation in LARS" EXACT [MONDO:design_pattern] synonym: "infantile liver failure syndrome 1" RELATED [MONDO:Lexical, OMIM:615438] synonym: "infantile liver failure syndrome 1; ILFS1" RELATED [OMIM:615438] synonym: "infantile liver failure syndrome type 1" EXACT [MONDORULE:1, OMIM:615438] +synonym: "LARS infantile liver failure" EXACT [MONDO:design_pattern] xref: GARD:0013114 {source="OMIM-shared", source="MONDO:equivalentTo"} xref: ICD10:K72.0 {source="Orphanet:370088", source="ORDO:370088/ntbt", source="ORDO:370088/attributed"} xref: OMIM:615438 {source="Orphanet:370088", source="MONDO:equivalentTo", source="MONDO:superClassOf", source="ORDO:370088/e"} @@ -395775,6 +401440,8 @@ is_a: MONDO:0014720 ! autosomal dominant optic atrophy plus syndrome id: MONDO:0024570 name: hyperparathyroidism 4 def: "Any familial isolated hyperparathyroidism in which the cause of the disease is a mutation in the GCM2 gene." [MONDO:patterns/disease_series_by_gene] +synonym: "familial isolated hyperparathyroidism caused by mutation in GCM2" EXACT [MONDO:design_pattern] +synonym: "GCM2 familial isolated hyperparathyroidism" EXACT [MONDO:design_pattern] synonym: "HRPT4" RELATED [OMIM:617343] synonym: "hyperparathyroidism 4; HRPT4" RELATED [OMIM:617343] xref: OMIM:617343 {source="MONDO:equivalentTo"} @@ -395826,7 +401493,7 @@ xref: NCIT:C84773 {source="MONDO:equivalentTo"} xref: OMIMPS:192600 {source="MONDO:equivalentTo"} xref: SCTID:471885006 {source="MONDO:equivalentTo"} xref: UMLS:C0949658 {source="NCIT:C84773"} -is_a: MONDO:0005045 {source="MONDO:Entailed", source="NCIT:C84773", source="linkedlife"} ! hypertrophic cardiomyopathy +is_a: MONDO:0005045 {source="MESH:D024741", source="MONDO:Entailed", source="NCIT:C84773", source="linkedlifedata"} ! hypertrophic cardiomyopathy intersection_of: MONDO:0005045 ! hypertrophic cardiomyopathy intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -395843,7 +401510,7 @@ xref: MESH:D014842 {source="MONDO:equivalentTo"} xref: NCIT:C68677 {source="MONDO:equivalentTo"} xref: SCTID:128105004 {source="MONDO:equivalentTo"} xref: UMLS:C0042974 {source="NCIT:C68677", source="MONDO:superClassOf"} -is_a: MONDO:0001531 {source="MESH:D014842/inferred", source="MONDO:Redundant", source="NCIT:C68677", source="linkedlife"} ! blood coagulation disease +is_a: MONDO:0001531 {source="MESH:D014842/inferred", source="MONDO:Redundant", source="NCIT:C68677", source="linkedlifedata"} ! blood coagulation disease is_a: MONDO:0002242 {source="MESH:D014842"} ! coagulation protein disease [Term] @@ -395880,7 +401547,7 @@ xref: ICD9:239.5 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3054 {source="MONDO:equivalentTo"} xref: SCTID:126895004 {source="MONDO:equivalentTo"} xref: UMLS:C0017417 {source="NCIT:C3054"} -is_a: MONDO:0003150 {source="NCIT:C3054"} ! male reproductive system disease +is_a: MONDO:0003150 {source="NCIT:C3054", source="linkedlifedata/inferred"} ! male reproductive system disease is_a: MONDO:0006054 {source="NCIT:C3054"} ! reproductive system neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0003135 ! male reproductive organ @@ -395959,7 +401626,7 @@ xref: Orphanet:494448 {source="MONDO:equivalentTo"} xref: SCTID:254895003 {source="MONDO:kboom-pr-1.00/0.80/9.77", source="DOID:2101", source="MONDO:equivalentTo"} xref: UMLS:C0280856 {source="DOID:2101", source="NCIT:C4052", source="MONDO:equivalentTo"} is_a: MONDO:0002195 {source="NCIT:C4052"} ! vulvar squamous neoplasm -is_a: MONDO:0005096 {source="DOID:2101", source="EFO:1000624", source="MONDO:Entailed", source="MONDOLEX:0024609", source="NCIT:C4052", source="linkedlifedata"} ! squamous cell carcinoma +is_a: MONDO:0005096 {source="DOID:2101", source="EFO:1000624", source="MONDO:Entailed", source="MONDOLEX:0024609", source="NCIT:C4052", source="linkedlifedata", source="linkedlifedata/inferred"} ! squamous cell carcinoma is_a: MONDO:0005215 {source="DOID:2101", source="EFO:1000624", source="MONDO:Entailed", source="MONDOLEX:0024609", source="NCIT:C4052", source="Orphanet:494448"} ! vulvar carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: disease_has_location UBERON:0000997 ! mammalian vulva @@ -396008,7 +401675,7 @@ synonym: "manic-depressive - now manic" RELATED [] xref: NCIT:C34805 {source="MONDO:equivalentTo"} xref: SCTID:191618007 {source="MONDO:equivalentTo"} xref: UMLS:C0024713 {source="NCIT:C34805"} -is_a: MONDO:0004985 {source="NCIT:C34805", source="linkedlife"} ! bipolar disorder +is_a: MONDO:0004985 {source="NCIT:C34805", source="linkedlifedata"} ! bipolar disorder [Term] id: MONDO:0024613 @@ -396020,8 +401687,8 @@ synonym: "manic-depressive - now depressed" RELATED [] xref: NCIT:C34424 {source="MONDO:equivalentTo"} xref: SCTID:191627008 {source="MONDO:equivalentTo"} xref: UMLS:C0005587 {source="NCIT:C34424"} -is_a: MONDO:0002050 {source="NCIT:C34424", source="linkedlife"} ! depressive disorder -is_a: MONDO:0004985 {source="NCIT:C34424", source="linkedlife"} ! bipolar disorder +is_a: MONDO:0002050 {source="NCIT:C34424", source="linkedlifedata"} ! depressive disorder +is_a: MONDO:0004985 {source="NCIT:C34424", source="linkedlifedata"} ! bipolar disorder [Term] id: MONDO:0024614 @@ -396068,8 +401735,8 @@ synonym: "human poliovirus infection" EXACT [] synonym: "infection caused by human poliovirus" EXACT [] xref: SCTID:721764008 {source="MONDO:equivalentTo"} xref: UMLS:C4303135 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0005550 {source="linkedlife/inferred"} ! infectious disease -is_a: MONDO:0005747 {source="MESH:D011051", source="linkedlife"} ! enterovirus infectious disease +is_a: MONDO:0005550 {source="linkedlife/inferred", source="linkedlifedata/inferred"} ! infectious disease +is_a: MONDO:0005747 {source="MESH:D011051", source="linkedlifedata"} ! enterovirus infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:138950 ! Enterovirus C relationship: realized_in_response_to_stimulus NCBITaxon:138950 ! Enterovirus C @@ -396089,8 +401756,8 @@ xref: MESH:D002494 {source="MONDO:equivalentTo"} xref: NCIT:C27582 {source="MONDO:equivalentTo"} xref: SCTID:128117002 {source="MONDO:equivalentTo"} xref: UMLS:C0007684 {source="NCIT:C27582", source="MONDO:equivalentTo"} -is_a: MONDO:0002602 {source="MESH:D002494", source="MONDO:Entailed", source="MONDOLEX:0024619", source="NCIT:C27582/inferred", source="linkedlife"} ! central nervous system disease -is_a: MONDO:0020010 {source="NCIT:C27582", source="linkedlife"} ! infectious disease of the nervous system +is_a: MONDO:0002602 {source="MESH:D002494", source="MONDO:Entailed", source="MONDOLEX:0024619", source="NCIT:C27582/inferred", source="linkedlifedata"} ! central nervous system disease +is_a: MONDO:0020010 {source="NCIT:C27582", source="linkedlifedata"} ! infectious disease of the nervous system intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_location UBERON:0001017 ! central nervous system @@ -396101,7 +401768,7 @@ synonym: "meningitis caused by human poliovirus" EXACT [] synonym: "polio virus meningitis" RELATED [] xref: SCTID:721765009 {source="MONDO:equivalentTo"} xref: UMLS:C4303134 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0004796 {source="linkedlife/inferred"} ! infectious meningitis +is_a: MONDO:0004796 {source="linkedlife/inferred", source="linkedlifedata/inferred"} ! infectious meningitis intersection_of: MONDO:0021108 ! meningitis (disease) intersection_of: MONDO:0024618 ! poliovirus infection @@ -396166,7 +401833,7 @@ xref: NCIT:C118420 {source="MONDO:equivalentTo"} xref: SCTID:232208008 {source="MONDO:equivalentTo"} xref: UMLS:C0029896 {source="MEDGEN:kboom-pr98-c98", source="MONDO:equivalentTo"} xref: UMLS:C0395797 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0000001 {source="linkedlife", source="linkedlife/inferred"} ! disease or disorder +is_a: MONDO:0000001 {source="NCIT:C118420/inferred", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! disease or disorder is_a: MONDO:0021059 {source="NCIT:C118420"} ! head or neck disease/disorder relationship: disease_has_location UBERON:0007811 ! craniocervical region @@ -396188,9 +401855,10 @@ def: "A disease that involves the lacrimal gland." [MONDO:patterns/location] synonym: "disease of lacrimal gland" EXACT [MONDO:patterns/location_top] synonym: "disorder of lacrimal gland" EXACT [MONDO:design_pattern, MONDO:patterns/location_top] synonym: "lacrimal gland disease" EXACT [MONDO:design_pattern, MONDO:patterns/location] +synonym: "lacrimal gland disease or disorder" EXACT [MONDO:design_pattern] xref: SCTID:95766002 {source="MONDO:equivalentTo"} xref: UMLS:C0235228 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001854 {source="linkedlife"} ! lacrimal apparatus disease +is_a: MONDO:0001854 {source="linkedlifedata"} ! lacrimal apparatus disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001817 ! lacrimal gland @@ -396201,7 +401869,7 @@ synonym: "defective phagocytic cell killing" EXACT [] xref: SCTID:234585008 {source="MONDO:equivalentTo"} xref: UMLS:C0398742 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted -is_a: MONDO:0024627 {source="linkedlife"} ! phagocytic cell dysfunction +is_a: MONDO:0024627 {source="linkedlifedata"} ! phagocytic cell dysfunction intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_disrupts GO:0006911 ! phagocytosis, engulfment @@ -396224,7 +401892,7 @@ synonym: "defective phagocytic cell chemotaxis" EXACT [] xref: ICD9:279.8 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:234580003 {source="MONDO:equivalentTo"} xref: UMLS:C0398735 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0024627 {source="linkedlife"} ! phagocytic cell dysfunction +is_a: MONDO:0024627 {source="linkedlifedata"} ! phagocytic cell dysfunction intersection_of: MONDO:0024627 ! phagocytic cell dysfunction intersection_of: disease_disrupts GO:0006935 ! chemotaxis @@ -396234,7 +401902,7 @@ name: defective phagocytic cell opsonization synonym: "defective phagocytic cell opsonization" EXACT [] xref: SCTID:234578009 {source="MONDO:equivalentTo"} xref: UMLS:C0398733 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0024627 {source="linkedlife"} ! phagocytic cell dysfunction +is_a: MONDO:0024627 {source="linkedlifedata"} ! phagocytic cell dysfunction intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_disrupts GO:0008228 ! opsonization @@ -396255,10 +401923,12 @@ intersection_of: disease_arises_from_feature MONDO:0005044 ! hypertensive disord id: MONDO:0024634 name: large intestine disease def: "A disease that involves the large intestine." [MONDO:patterns/location] +synonym: "disease of large intestine" EXACT [MONDO:design_pattern] synonym: "disorder of large intestine" EXACT [] +synonym: "large intestine disease or disorder" EXACT [MONDO:design_pattern] xref: SCTID:119523007 {source="MONDO:equivalentTo"} xref: UMLS:C0341321 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0005020 {source="linkedlife"} ! intestinal disease +is_a: MONDO:0005020 {source="linkedlifedata"} ! intestinal disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000059 ! large intestine @@ -396266,10 +401936,12 @@ intersection_of: disease_has_location UBERON:0000059 ! large intestine id: MONDO:0024635 name: small intestine disease def: "A disease that involves the small intestine." [MONDO:patterns/location] +synonym: "disease of small intestine" EXACT [MONDO:design_pattern] synonym: "disorder of small intestine" EXACT [] +synonym: "small intestine disease or disorder" EXACT [MONDO:design_pattern] xref: SCTID:119522002 {source="MONDO:equivalentTo"} xref: UMLS:C0341268 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0005020 {source="linkedlife"} ! intestinal disease +is_a: MONDO:0005020 {source="linkedlifedata"} ! intestinal disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002108 ! small intestine @@ -396280,7 +401952,7 @@ def: "An inflammatory disease involving a pathogenic inflammatory response in th synonym: "carditis" EXACT [] xref: ICD9:429.89 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:399617002 {source="MONDO:equivalentTo"} -is_a: MONDO:0005267 {source="linkedlife", source="linkedlife/inferred"} ! heart disease +is_a: MONDO:0005267 {source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! heart disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0005983 ! heart layer @@ -396296,8 +401968,8 @@ synonym: "malignant tumor of soft tissue" EXACT [NCIT:C4867] synonym: "malignant tumor of the soft tissue" EXACT [NCIT:C4867] xref: NCIT:C4867 {source="MONDO:equivalentTo"} xref: SCTID:269469005 {source="MONDO:equivalentTo"} -is_a: MONDO:0004992 {source="MONDOLEX:0024637"} ! cancer -is_a: MONDO:0006424 {source="NCIT:C4867"} ! soft tissue neoplasm +is_a: MONDO:0004992 {source="MONDOLEX:0024637", source="linkedlifedata"} ! cancer +is_a: MONDO:0006424 {source="NCIT:C4867", source="linkedlifedata"} ! soft tissue neoplasm [Term] id: MONDO:0024638 @@ -396340,14 +402012,17 @@ intersection_of: has_modifier MONDO:0024492 {source="NCIT:C95880"} ! tumor grade id: MONDO:0024643 name: myocardial disorder def: "A disorder that affects the muscle tissue of the heart. Representative examples include myocardial infarction, myocarditis, and cardiomyopathy." [NCIT:C35544] +synonym: "disease of myocardium" EXACT [MONDO:design_pattern] synonym: "disorder of heart muscle" RELATED [] synonym: "disorder of myocardium" RELATED [] synonym: "myocardial disease" EXACT [] synonym: "myocardial disorder" EXACT [NCIT:C35544] +synonym: "myocardium disease" EXACT [MONDO:design_pattern] +synonym: "myocardium disease or disorder" EXACT [MONDO:design_pattern] xref: NCIT:C35544 {source="MONDO:equivalentTo"} xref: SCTID:57809008 {source="MONDO:equivalentTo"} xref: UMLS:C3241958 {source="NCIT:C35544"} -is_a: MONDO:0005267 {source="NCIT:C35544/inferred", source="linkedlife"} ! heart disease +is_a: MONDO:0005267 {source="NCIT:C35544/inferred", source="linkedlifedata"} ! heart disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002349 ! myocardium @@ -396361,17 +402036,19 @@ synonym: "heart disease, ischemic" RELATED [MESH:D017202] synonym: "heart diseases, ischemic" RELATED [MESH:D017202] synonym: "ischemia, myocardial" RELATED [MESH:D017202] synonym: "Ischemias, myocardial" RELATED [MESH:D017202] +synonym: "ischemic disease of myocardium" EXACT [MONDO:design_pattern] synonym: "ischemic heart disease" EXACT [MESH:D017202, SCTID:414545008] synonym: "ischemic heart diseases" RELATED [MESH:D017202] synonym: "myocardial Ischemias" RELATED [MESH:D017202] +synonym: "myocardium ischemic disease" EXACT [MONDO:design_pattern] xref: EFO:1001375 {source="MONDO:equivalentTo"} xref: ICD10:I20.I25 {source="MONDO:equivalentTo"} xref: MESH:D017202 {source="MONDO:equivalentTo"} xref: NCIT:C50625 {source="MONDO:equivalentTo"} xref: SCTID:414545008 {source="MONDO:equivalentTo"} xref: UMLS:C0151744 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004995 {source="EFO:1001375/inferred", source="ICD10:I20.I25", source="MESH:D017202/inferred", source="linkedlife/inferred"} ! cardiovascular disease -is_a: MONDO:0005267 {source="EFO:1001375/inferred", source="MESH:D017202", source="linkedlife", source="linkedlife/inferred"} ! heart disease +is_a: MONDO:0004995 {source="EFO:1001375/inferred", source="ICD10:I20.I25", source="MESH:D017202/inferred", source="NCIT:C50625/inferred", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! cardiovascular disease +is_a: MONDO:0005267 {source="EFO:1001375/inferred", source="MESH:D017202", source="NCIT:C50625/inferred", source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! heart disease is_a: MONDO:0005385 {source="MESH:D017202"} ! vascular disease is_a: MONDO:0024643 {source="MONDO:cjm"} ! myocardial disorder intersection_of: MONDO:0005053 ! ischemic disease @@ -396407,7 +402084,7 @@ xref: ICD10:N21 {source="MONDO:equivalentTo"} xref: NCIT:C114688 {source="MONDO:equivalentTo"} xref: SCTID:95566004 {source="MONDO:equivalentTo"} xref: UMLS:C0451641 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002118 ! urinary system disease +is_a: MONDO:0002118 {source="NCIT:C114688/inferred", source="linkedlifedata"} ! urinary system disease [Term] id: MONDO:0024648 @@ -396428,6 +402105,7 @@ intersection_of: disease_has_location UBERON:0001908 ! optic tract id: MONDO:0024649 name: optic tract astrocytoma def: "An astrocytoma that affects the optic tract. This condition can be seen in association with neurofibromatosis 1. It is most commonly seen in the pediatric age group." [NCIT:C7533] +synonym: "astrocytoma (excluding glioblastoma) of optic tract" EXACT [MONDO:design_pattern] synonym: "optic tract astrocytoma" EXACT [NCIT:C7533] synonym: "visual Pathway astrocytoma" EXACT [NCIT:C7533] xref: NCIT:C7533 {source="MONDO:equivalentTo"} @@ -396443,7 +402121,7 @@ name: drug-induced osteoporosis synonym: "drug-induced osteoporosis" EXACT [] xref: ICD9:733.09 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:14651005 {source="MONDO:equivalentTo"} -is_a: MONDO:0005298 {source="linkedlife"} ! osteoporosis +is_a: MONDO:0005298 {source="linkedlifedata"} ! osteoporosis intersection_of: MONDO:0005298 ! osteoporosis intersection_of: realized_in_response_to_stimulus CHEBI:25367 ! molecule @@ -396455,7 +402133,7 @@ synonym: "osteoporosis due to corticosteroid" EXACT [SCTID:390833005] xref: ICD9:733.09 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:390833005 {source="MONDO:equivalentTo"} xref: UMLS:C1272167 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0024650 {source="linkedlife"} ! drug-induced osteoporosis +is_a: MONDO:0024650 {source="linkedlifedata"} ! drug-induced osteoporosis intersection_of: MONDO:0005298 ! osteoporosis intersection_of: realized_in_response_to_stimulus CHEBI:50858 ! corticosteroid @@ -396466,7 +402144,7 @@ synonym: "cyst of mesenteric remnant" RELATED [] synonym: "embryonic cyst of fallopian tube" EXACT [] xref: ICD10:Q50.4 {source="MONDO:equivalentTo"} xref: SCTID:302954008 {source="MONDO:equivalentTo"} -is_a: MONDO:0000001 {source="linkedlife", source="linkedlife/inferred"} ! disease or disorder +is_a: MONDO:0000001 {source="linkedlife/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! disease or disorder relationship: disease_has_location UBERON:0003889 ! fallopian tube [Term] @@ -396483,7 +402161,7 @@ xref: ICD9:239.2 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C3375 {source="MONDO:equivalentTo"} xref: SCTID:126538005 {source="MONDO:equivalentTo"} xref: UMLS:C0037305 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3375", source="MONDO:equivalentTo"} -is_a: MONDO:0005586 {source="NCIT:C3375", source="linkedlife/inferred"} ! head and neck neoplasm +is_a: MONDO:0005586 {source="NCIT:C3375", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! head and neck neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0003129 ! skull @@ -396491,12 +402169,15 @@ intersection_of: disease_has_location UBERON:0003129 ! skull id: MONDO:0024654 name: skull disorder def: "A non-neoplastic or neoplastic disorder that affects structures of the skull." [NCIT:C27655] +synonym: "disease of skull" EXACT [MONDO:design_pattern] +synonym: "disorder of skull" EXACT [MONDO:design_pattern] synonym: "skull disease" EXACT [NCIT:C27655] +synonym: "skull disease or disorder" EXACT [MONDO:design_pattern] synonym: "skull disorder" EXACT [NCIT:C27655] xref: NCIT:C27655 {source="MONDO:equivalentTo"} xref: SCTID:118945008 {source="MONDO:equivalentTo"} xref: UMLS:C1290854 {source="NCIT:C27655", source="MONDO:equivalentTo"} -is_a: MONDO:0005381 {source="linkedlife"} ! bone disease +is_a: MONDO:0005381 {source="linkedlifedata"} ! bone disease is_a: MONDO:0021059 {source="NCIT:C27655"} ! head or neck disease/disorder intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0003129 ! skull @@ -396507,8 +402188,8 @@ name: rheumatic pericarditis synonym: "rheumatic pericarditis" EXACT [] xref: SCTID:28381002 {source="MONDO:equivalentTo"} xref: UMLS:C0264747 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005904 {source="linkedlife"} ! pericarditis (disease) -is_a: MONDO:0006955 {source="linkedlife"} ! rheumatic heart disease +is_a: MONDO:0005904 {source="linkedlifedata"} ! pericarditis (disease) +is_a: MONDO:0006955 {source="linkedlifedata"} ! rheumatic heart disease intersection_of: MONDO:0006955 ! rheumatic heart disease intersection_of: disease_has_inflammation_site UBERON:0002407 ! pericardium @@ -396518,6 +402199,8 @@ name: colorectal lymphoma def: "An extranodal lymphoma that arises from the colon or rectum. The majority are B-cell non-Hodgkin lymphomas." [NCIT:C96498] synonym: "colorectal lymphoma" EXACT [NCIT:C96498] synonym: "large intestinal lymphoma" EXACT [NCIT:C96498] +synonym: "large intestine lymphoma" EXACT [MONDO:design_pattern] +synonym: "lymphoma of large intestine" EXACT [MONDO:design_pattern] synonym: "primary colorectal lymphoma" EXACT [NCIT:C96498] xref: NCIT:C96498 {source="MONDO:equivalentTo"} xref: UMLS:C3272822 {source="NCIT:C96498", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} @@ -396572,7 +402255,7 @@ xref: ICDO:8211/0 {source="NCIT:C4133"} xref: NCIT:C4133 {source="MONDO:equivalentTo"} xref: SCTID:444408007 {source="MONDO:equivalentTo"} xref: UMLS:C0334292 {source="NCIT:C4133", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004972 {source="NCIT:C4133"} ! adenoma +is_a: MONDO:0004972 {source="NCIT:C4133", source="linkedlifedata"} ! adenoma [Term] id: MONDO:0024661 @@ -396636,7 +402319,7 @@ xref: MESH:D046110 {source="MONDO:equivalentTo"} xref: NCIT:C9243 {source="MONDO:equivalentTo"} xref: SCTID:48194001 {source="MONDO:equivalentTo"} xref: UMLS:C0852260 {source="NCIT:C9243"} -is_a: MONDO:0005044 {source="MESH:D046110", source="linkedlife"} ! hypertensive disorder +is_a: MONDO:0005044 {source="MESH:D046110", source="linkedlifedata"} ! hypertensive disorder is_a: MONDO:0024575 {source="MESH:D046110", source="NCIT:C9243"} ! pregnancy disorder intersection_of: MONDO:0005044 ! hypertensive disorder intersection_of: MONDO:0024575 ! pregnancy disorder @@ -396709,6 +402392,7 @@ synonym: "adult nephroblastoma" EXACT [NCIT:C6180] synonym: "adult renal adenosarcoma" EXACT [NCIT:C6180] synonym: "adult renal Wilms tumor" EXACT [NCIT:C6180] synonym: "adult renal Wilms' tumor" EXACT [NCIT:C6180] +synonym: "kidney Wilms tumor of adults" EXACT [MONDO:design_pattern] xref: NCIT:C6180 {source="MONDO:equivalentTo"} xref: UMLS:C1332219 {source="NCIT:C6180", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0019004 {source="MONDOLEX:0024675", source="NCIT:C6180"} ! kidney Wilms tumor @@ -396744,6 +402428,7 @@ synonym: "beta-cell adenoma" RELATED [MESH:D007340] synonym: "beta-cell adenomas" RELATED [MESH:D007340] synonym: "beta-cell tumor" RELATED [MESH:D007340] synonym: "beta-cell tumors" RELATED [MESH:D007340] +synonym: "Insulin-Producing tumor of Islet cells" EXACT [DOID:3892] synonym: "insulinoma" EXACT [NCIT:C95598] synonym: "insulinoma tumor suppressor GENE locus" RELATED [MESH:D007340] synonym: "Insulinomas" RELATED [MESH:D007340] @@ -396843,6 +402528,8 @@ name: childhood choroid plexus neoplasm def: "A neoplasm that arises from the choroid plexus in the brain and occurs during childhood." [NCIT:C42080] synonym: "childhood choroid plexus neoplasm" EXACT [NCIT:C42080] synonym: "choroid plexus neoplasm" EXACT [NCIT:C42080] +synonym: "choroid plexus neoplasm of childhood" EXACT [MONDO:design_pattern] +synonym: "pediatric choroid plexus neoplasm" EXACT [MONDO:design_pattern] xref: NCIT:C42080 {source="MONDO:equivalentTo"} is_a: MONDO:0016717 {source="NCIT:C42080"} ! choroid plexus neoplasm intersection_of: MONDO:0016717 ! choroid plexus neoplasm @@ -396875,10 +402562,12 @@ intersection_of: disease_has_location UBERON:0004535 ! cardiovascular system [Term] id: MONDO:0024797 name: adult brain stem neoplasm +def: "A brainstem neoplasm that occurs in an adult." [MONDO:design_pattern] synonym: "adult brain stem neoplasm" EXACT [NCIT:C5967] synonym: "adult brain stem tumor" EXACT [NCIT:C5967] synonym: "adult brainstem neoplasm" EXACT [NCIT:C5967] synonym: "adult brainstem tumor" EXACT [NCIT:C5967] +synonym: "brainstem neoplasm of adults" EXACT [MONDO:design_pattern] synonym: "neoplasm of adult brain stem" EXACT [NCIT:C5967] synonym: "neoplasm of adult brainstem" EXACT [NCIT:C5967] synonym: "neoplasm of the adult brain stem" EXACT [NCIT:C5967] @@ -396990,7 +402679,7 @@ synonym: "neoplasm of clitoris" EXACT [] xref: ICD9:239.5 {source="i2s", source="MONDO:relatedTo"} xref: SCTID:126925009 {source="MONDO:equivalentTo"} xref: UMLS:C1263793 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0021049 {source="linkedlife"} ! vulvar neoplasm +is_a: MONDO:0021049 {source="linkedlifedata"} ! vulvar neoplasm intersection_of: MONDO:0005070 ! neoplasm (disease) intersection_of: disease_has_location UBERON:0002411 ! clitoris @@ -397048,7 +402737,7 @@ xref: ICD9:199.1 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C4968 {source="MONDO:equivalentTo"} xref: SCTID:128462008 {source="MONDO:equivalentTo"} xref: UMLS:C0751623 {source="NCIT:C4968"} -is_a: MONDO:0004992 {source="MONDOLEX:0024881", source="NCIT:C4968", source="linkedlife"} ! cancer +is_a: MONDO:0004992 {source="MONDOLEX:0024881", source="NCIT:C4968", source="linkedlifedata"} ! cancer is_a: MONDO:0024882 {source="NCIT:C4968"} ! secondary neoplasm [Term] @@ -397170,7 +402859,7 @@ id: MONDO:0024891 name: non-infective meningitis xref: SCTID:230155003 {source="MONDO:equivalentTo"} xref: UMLS:C0393442 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0021108 {source="linkedlife"} ! meningitis (disease) +is_a: MONDO:0021108 {source="linkedlifedata"} ! meningitis (disease) [Term] id: MONDO:0024892 @@ -397485,7 +403174,7 @@ synonym: "vesicular Stomatitides" RELATED [MESH:D054243] xref: MESH:D054243 {source="MONDO:equivalentTo"} xref: SCTID:36921006 {source="MONDO:equivalentTo"} xref: UMLS:C0266999 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004842 {source="MESH:D054243"} ! stomatitis +is_a: MONDO:0004842 {source="MESH:D054243", source="linkedlifedata"} ! stomatitis is_a: MONDO:0005583 {source="MESH:D054243"} ! non-human animal disease is_a: MONDO:0005944 {source="MESH:D054243"} ! Rhabdoviridae infectious disease @@ -397656,7 +403345,7 @@ synonym: "malignant Catarrhs" RELATED [MESH:D008304] xref: MESH:D008304 {source="MONDO:equivalentTo"} xref: SCTID:24043009 {source="MONDO:equivalentTo"} xref: UMLS:C0276241 {source="MONDO:equivalentTo"} -is_a: MONDO:0005794 {source="MESH:D008304"} ! Herpesviridae infectious disease +is_a: MONDO:0005794 {source="MESH:D008304", source="linkedlifedata/inferred"} ! Herpesviridae infectious disease is_a: MONDO:0024913 {source="MESH:D008304"} ! cattle disease [Term] @@ -397952,7 +403641,7 @@ synonym: "sheep disease, Nairobi" RELATED [MESH:D009265] xref: MESH:D009265 {source="MONDO:equivalentTo"} xref: SCTID:24069003 {source="MONDO:equivalentTo"} xref: UMLS:C0027345 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0021641 {source="MESH:D009265"} ! Bunyaviridae infectious disease +is_a: MONDO:0021641 {source="MESH:D009265", source="linkedlifedata/inferred"} ! Bunyaviridae infectious disease is_a: MONDO:0024985 {source="MESH:D009265"} ! sheep disease is_a: MONDO:0025294 {source="MESH:D009265"} ! tick-borne infectious disease @@ -398533,11 +404222,13 @@ id: MONDO:0025512 name: type II hypersensitivity reaction disease def: "A disease that has its basis in the disruption of type II hypersensitivity." [MONDO:patterns/basis_in_disruption_of_process] comment: Note that DO combines autoimmune and type II hypersensitivity in one concept (2018-06-22) +synonym: "disorder of type II hypersensitivity" EXACT [MONDO:design_pattern] +synonym: "type II hypersensitivity disease" EXACT [MONDO:design_pattern] xref: DOID:417 {source="MONDO:subClassOf", source="MONDO:relatedTo"} xref: EFO:0005809 {source="MONDO:equivalentTo"} xref: UMLS:C0003089 {source="DOID:417"} is_a: MONDO:0000605 {source="EFO:0005809"} ! hypersensitivity reaction disease -is_a: MONDO:0005046 {source="EFO:0005809"} ! immune system disease +is_a: MONDO:0005046 {source="EFO:0005809", source="EFO:0005809/inferred"} ! immune system disease is_a: MONDO:0007179 ! autoimmune disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0002445 ! type II hypersensitivity @@ -398573,7 +404264,7 @@ xref: ICD9:709.1 {source="GARD:0012784"} xref: ICD9CM:709.1 {source="DOID:0040099"} xref: SCTID:238762002 {source="MONDO:equivalentTo"} xref: UMLS:C0343081 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0018882 {source="DOID:0040099"} ! vasculitis +is_a: MONDO:0018882 {source="DOID:0040099", source="linkedlifedata/inferred"} ! vasculitis intersection_of: MONDO:0018882 ! vasculitis intersection_of: disease_has_feature HP:0000979 ! Purpura relationship: disease_has_location UBERON:0003532 ! hindlimb skin @@ -398623,8 +404314,8 @@ xref: ICD9:483.1 {source="DOID:0040083", source="i2s", source="MONDO:equivalentT xref: MESH:D061387 {source="MONDO:equivalentTo"} xref: SCTID:233609002 {source="MONDO:equivalentTo"} xref: UMLS:C0339959 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004652 {source="DOID:0040083", source="linkedlife/inferred"} ! bacterial pneumonia -is_a: MONDO:0005701 {source="linkedlife"} ! chlamydia trachomatis infectious disease +is_a: MONDO:0004652 {source="DOID:0040083", source="MESH:D061387", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bacterial pneumonia +is_a: MONDO:0005701 {source="linkedlifedata"} ! chlamydia trachomatis infectious disease intersection_of: MONDO:0005249 ! pneumonia intersection_of: realized_in_response_to_stimulus NCBITaxon:810 ! Chlamydia @@ -398646,6 +404337,7 @@ def: "An autosomal dominant non-syndromic intellectual disability that has_mater synonym: "9q subtelomeric deletion syndrome" EXACT [DOID:0070075] synonym: "9q-syndrome" EXACT [DOID:0070075] synonym: "chromosome 9q34.3 deletion syndrome" EXACT [DOID:0070075] +synonym: "Kleefstra Syndrome" RELATED [DOID:0070075] synonym: "Kleefstra syndrome 1; KLEFS1" RELATED [OMIM:610253] synonym: "KLEFS1" RELATED [OMIM:610253] xref: DOID:0070075 {source="MONDO:equivalentTo"} @@ -398666,8 +404358,8 @@ xref: ICD10:Q82.8 {source="DOID:0070129"} xref: OMIM:617403 {source="DOID:0070129", source="MONDO:equivalentTo"} xref: Orphanet:357074 {source="OMIM:617403", source="MONDO:subClassOf"} xref: UMLS:C4479409 {source="OMIM:617403"} -is_a: MONDO:0009054 {source="MONDOLEX:0027451"} ! autosomal recessive cutis laxa type 2, classic type -is_a: MONDO:0016175 {source="OMIM:617403"} ! cutis laxa +is_a: MONDO:0009054 {source="DOID:0070129", source="MONDOLEX:0027451"} ! autosomal recessive cutis laxa type 2, classic type +is_a: MONDO:0016175 {source="DOID:0070129/inferred", source="OMIM:617403"} ! cutis laxa [Term] id: MONDO:0027462 @@ -398682,8 +404374,8 @@ xref: ICD10:Q82.8 {source="DOID:0070140"} xref: OMIM:617402 {source="DOID:0070140", source="MONDO:equivalentTo"} xref: Orphanet:357074 {source="OMIM:617402", source="MONDO:subClassOf"} xref: UMLS:C4479387 {source="OMIM:617402"} -is_a: MONDO:0009054 {source="MONDOLEX:0027462"} ! autosomal recessive cutis laxa type 2, classic type -is_a: MONDO:0016175 {source="OMIM:617402"} ! cutis laxa +is_a: MONDO:0009054 {source="DOID:0070140", source="MONDOLEX:0027462"} ! autosomal recessive cutis laxa type 2, classic type +is_a: MONDO:0016175 {source="DOID:0070140/inferred", source="OMIM:617402"} ! cutis laxa [Term] id: MONDO:0027676 @@ -398693,15 +404385,17 @@ synonym: "CAKUT2" RELATED [DOID:0080207, OMIM:143400] synonym: "congenital anomalies of kidney and urinary tract 2" RELATED [OMIM:143400] synonym: "congenital anomalies OF kidney and urinary tract 2; CAKUT2" RELATED [OMIM:143400] synonym: "congenital anomalies of kidney and urinary tract type 2" EXACT [MONDORULE:1, OMIM:143400] +synonym: "congenital anomaly of kidney and urinary tract caused by mutation in TBX18" EXACT [MONDO:design_pattern] synonym: "hydronephrosis due to Pujo" RELATED [OMIM:143400] synonym: "multicystic renal dysplasia, bilateral" RELATED [OMIM:143400] synonym: "pelviureteric junction obstruction" RELATED [OMIM:143400] +synonym: "TBX18 congenital anomaly of kidney and urinary tract" EXACT [MONDO:design_pattern] synonym: "ureteropelvic junction obstruction" RELATED [OMIM:143400] xref: DOID:0080207 {source="MONDO:equivalentTo"} xref: OMIM:143400 {source="DOID:0080207", source="MONDO:equivalentTo"} xref: Orphanet:2190 {source="MONDO:relatedTo", source="OMIM:143400"} xref: UMLS:C1840451 {source="NCBI:mim2gene_medline", source="OMIM:143400"} -is_a: MONDO:0019719 {source="MONDO:Redundant", source="OMIM:143400"} ! congenital anomaly of kidney and urinary tract +is_a: MONDO:0019719 {source="DOID:0080207", source="MONDO:Redundant", source="OMIM:143400"} ! congenital anomaly of kidney and urinary tract intersection_of: MONDO:0019719 ! congenital anomaly of kidney and urinary tract intersection_of: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11595 ! TBX18 relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11595 {source="mim2gene_medgen"} ! TBX18 @@ -398727,7 +404421,7 @@ xref: DOID:0080298 {source="MONDO:equivalentTo"} xref: HP:0009064 {source="MONDO:otherHierarchy"} xref: NCIT:C131815 {source="MONDO:equivalentTo"} xref: UMLS:C4317112 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006573 {source="DOID:0080298"} ! lipodystrophy (disease) +is_a: MONDO:0006573 {source="DOID:0080298", source="NCIT:C131815"} ! lipodystrophy (disease) intersection_of: MONDO:0006573 ! lipodystrophy (disease) intersection_of: disease_has_major_feature HP:0009064 ! Generalized lipodystrophy disjoint_from: MONDO:0027767 ! partial lipodystrophy @@ -398739,7 +404433,7 @@ def: "Loss and redistribution of subcutaneous and/or visceral adipose tissue fro xref: DOID:0080299 {source="MONDO:equivalentTo"} xref: NCIT:C131296 {source="MONDO:equivalentTo"} xref: UMLS:C4316789 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006573 {source="DOID:0080299"} ! lipodystrophy (disease) +is_a: MONDO:0006573 {source="DOID:0080299", source="NCIT:C131296"} ! lipodystrophy (disease) [Term] id: MONDO:0027772 @@ -398754,7 +404448,7 @@ xref: DOID:0080304 {source="MONDO:equivalentTo"} xref: NCIT:C45512 {source="MONDO:equivalentTo"} xref: UMLS:C1708776 {source="NCIT:C45512"} is_a: MONDO:0004957 {source="MONDOLEX:0027772", source="NCIT:C45512"} ! mucinous adenocarcinoma -is_a: MONDO:0005061 {source="DOID:0080304", source="MONDOLEX:0027772", source="NCIT:C45512"} ! lung adenocarcinoma +is_a: MONDO:0005061 {source="DOID:0080303", source="DOID:0080304", source="MONDOLEX:0027772", source="NCIT:C45512"} ! lung adenocarcinoma intersection_of: MONDO:0004957 ! mucinous adenocarcinoma intersection_of: disease_has_location UBERON:0002048 ! lung @@ -398814,7 +404508,7 @@ xref: ICD9:482.0 {source="DOID:13272", source="i2s", source="MONDO:equivalentTo" xref: MESH:D007710 {source="DOID:13272", source="MONDO:relatedTo"} xref: SCTID:64479007 {source="MONDO:equivalentTo"} xref: UMLS:C0519030 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0004652 {source="DOID:13272", source="linkedlife/inferred"} ! bacterial pneumonia +is_a: MONDO:0004652 {source="DOID:13272", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! bacterial pneumonia intersection_of: MONDO:0005249 ! pneumonia intersection_of: realized_in_response_to_stimulus NCBITaxon:570 ! Klebsiella @@ -398899,8 +404593,8 @@ xref: ICD9:131.03 {source="i2s", source="MONDO:equivalentTo"} xref: NCIT:C35176 {source="MONDO:equivalentTo"} xref: SCTID:71590000 {source="MONDO:equivalentTo"} xref: UMLS:C0153315 {source="NCIT:C35176", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002154 {source="NCIT:C35176", source="linkedlife"} ! trichomoniasis -is_a: MONDO:0005280 {source="NCIT:C35176", source="linkedlife/inferred"} ! prostatitis (disease) +is_a: MONDO:0002154 {source="NCIT:C35176", source="linkedlifedata"} ! trichomoniasis +is_a: MONDO:0005280 {source="NCIT:C35176", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! prostatitis (disease) intersection_of: MONDO:0005280 ! prostatitis (disease) intersection_of: realized_in_response_to_stimulus NCBITaxon:5722 ! Trichomonas vaginalis @@ -398914,8 +404608,8 @@ xref: ICD9:131.09 {source="i2s", source="MONDO:relatedTo"} xref: NCIT:C35405 {source="MONDO:equivalentTo"} xref: SCTID:197850006 {source="MONDO:equivalentTo"} xref: UMLS:C0341733 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo", source="NCIT:C35405"} -is_a: MONDO:0002154 {source="NCIT:C35405", source="linkedlife/inferred"} ! trichomoniasis -is_a: MONDO:0005993 {source="linkedlife"} ! Trichomonas vaginitis urogenital infection +is_a: MONDO:0002154 {source="NCIT:C35405", source="linkedlife/inferred", source="linkedlifedata/inferred"} ! trichomoniasis +is_a: MONDO:0005993 {source="linkedlifedata"} ! Trichomonas vaginitis urogenital infection intersection_of: MONDO:0006032 ! cystitis intersection_of: realized_in_response_to_stimulus NCBITaxon:5722 ! Trichomonas vaginalis @@ -398948,8 +404642,8 @@ synonym: "trichomonal vulvovaginitis" EXACT [] xref: ICD9:131.01 {source="i2s", source="MONDO:equivalentTo"} xref: SCTID:81598001 {source="MONDO:equivalentTo"} xref: UMLS:C2945558 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005993 {source="linkedlife"} ! Trichomonas vaginitis urogenital infection -is_a: MONDO:0007019 {source="MONDOLEX:0030720", source="linkedlife"} ! vulvovaginitis +is_a: MONDO:0005993 {source="linkedlifedata"} ! Trichomonas vaginitis urogenital infection +is_a: MONDO:0007019 {source="MONDOLEX:0030720", source="linkedlifedata"} ! vulvovaginitis intersection_of: MONDO:0007019 ! vulvovaginitis intersection_of: realized_in_response_to_stimulus NCBITaxon:5722 ! Trichomonas vaginalis @@ -399221,7 +404915,7 @@ def: "Inflammation of the body fundic mucosa of the stomach. It results from the xref: DOID:0040090 {source="MONDO:equivalentTo"} xref: NCIT:C95752 {source="MONDO:equivalentTo"} is_a: MONDO:0000588 {source="DOID:0040090"} ! autoimmune disease of gastrointestinal tract -is_a: MONDO:0004298 {source="DOID:0040090"} ! stomach disease +is_a: MONDO:0004298 {source="DOID:0040090", source="NCIT:C95752/inferred"} ! stomach disease intersection_of: MONDO:0004966 ! gastritis (disease) intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity @@ -399662,6 +405356,7 @@ xref: OMIM:617610 {source="DOID:0080273", source="MONDO:equivalentTo"} xref: Orphanet:731 {source="OMIM:617610", source="MONDO:relatedTo"} xref: UMLS:C4539903 {source="OMIM:617610"} is_a: MONDO:0004691 {source="DOID:0080273", source="OMIM:617610"} ! autosomal dominant polycystic kidney disease +relationship: has_modifier HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0033282 @@ -399891,7 +405586,8 @@ xref: OMIM:617691 {source="DOID:0080286", source="MONDO:equivalentTo"} xref: UMLS:C4521563 {source="OMIM:617691"} xref: UMLS:CN492437 {source="MONDO:equivalentTo"} is_a: MONDO:0000437 {source="OMIM:617691"} ! cerebellar ataxia -is_a: MONDO:0020380 {source="DOID:0080286"} ! autosomal dominant cerebellar ataxia +is_a: MONDO:0020380 {source="DOID:0080286", source="OMIM:617691"} ! autosomal dominant cerebellar ataxia +relationship: has_modifier HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0033480 @@ -399903,7 +405599,8 @@ xref: OMIM:617769 {source="DOID:0080287", source="MONDO:equivalentTo"} xref: UMLS:C4540400 {source="OMIM:617769"} xref: UMLS:CN623017 {source="MONDO:equivalentTo"} is_a: MONDO:0000437 {source="OMIM:617769"} ! cerebellar ataxia -is_a: MONDO:0020380 {source="DOID:0080287"} ! autosomal dominant cerebellar ataxia +is_a: MONDO:0020380 {source="DOID:0080287", source="OMIM:617769"} ! autosomal dominant cerebellar ataxia +relationship: has_modifier HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0033481 @@ -399916,7 +405613,8 @@ xref: OMIM:617770 {source="DOID:0080288", source="MONDO:equivalentTo"} xref: UMLS:C4540404 {source="OMIM:617770"} xref: UMLS:CN623018 {source="MONDO:equivalentTo"} is_a: MONDO:0000437 {source="OMIM:617770"} ! cerebellar ataxia -is_a: MONDO:0020380 {source="DOID:0080288"} ! autosomal dominant cerebellar ataxia +is_a: MONDO:0020380 {source="DOID:0080288", source="OMIM:617770"} ! autosomal dominant cerebellar ataxia +relationship: has_modifier HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0033482 @@ -399929,9 +405627,12 @@ is_a: MONDO:0000437 {source="OMIM:617931"} ! cerebellar ataxia [Term] id: MONDO:0033483 name: erythrocytosis, familial, 5 +def: "Any familial polycythemia in which the cause of the disease is a mutation in the EPO gene." [MONDO:design_pattern] synonym: "ECYT5" RELATED [OMIM:617907] +synonym: "EPO familial polycythemia" EXACT [MONDO:design_pattern] synonym: "erythrocytosis, familial, 5; ECYT5" RELATED [OMIM:617907] synonym: "familial erythrocytosis 5" RELATED [DOID:0080290] +synonym: "familial polycythemia caused by mutation in EPO" EXACT [MONDO:design_pattern] xref: DOID:0080290 {source="MONDO:equivalentTo"} xref: OMIM:617907 {source="DOID:0080290", source="MONDO:equivalentTo"} xref: UMLS:CN873435 {source="MONDO:equivalentTo"} @@ -399958,7 +405659,7 @@ synonym: "leukodystrophy, hypomyelinating, 14; HLD14" RELATED [OMIM:617899] xref: DOID:0080296 {source="MONDO:equivalentTo"} xref: OMIM:617899 {source="DOID:0080296", source="MONDO:equivalentTo"} xref: UMLS:CN845004 {source="MONDO:equivalentTo"} -is_a: MONDO:0019046 {source="DOID:0080296", source="OMIM:617899"} ! leukodystrophy +is_a: MONDO:0019046 {source="DOID:0080296", source="DOID:0080296/inferred", source="OMIM:617899"} ! leukodystrophy [Term] id: MONDO:0033492 @@ -399971,6 +405672,7 @@ xref: Orphanet:1465 {source="MONDO:relatedTo", source="OMIM:617808"} xref: UMLS:C4540499 {source="OMIM:617808"} xref: UMLS:CN696018 {source="MONDO:equivalentTo"} is_a: MONDO:0015802 {source="DOID:0080297", source="OMIM:617808"} ! autosomal dominant non-syndromic intellectual disability +relationship: has_modifier HP:0000006 ! Autosomal dominant inheritance [Term] id: MONDO:0033493 @@ -400015,7 +405717,7 @@ synonym: "CMTDIG" RELATED [OMIM:617882] xref: DOID:0080294 {source="MONDO:equivalentTo"} xref: OMIM:617882 {source="DOID:0080294", source="MONDO:equivalentTo"} xref: UMLS:CN847583 {source="MONDO:equivalentTo"} -is_a: MONDO:0015626 {source="OMIM:617882"} ! Charcot-Marie-tooth disease +is_a: MONDO:0015626 {source="DOID:0080294/inferred", source="OMIM:617882"} ! Charcot-Marie-tooth disease is_a: MONDO:0018778 {source="DOID:0080294", source="MONDOLEX:0036484"} ! intermediate Charcot-Marie-tooth disease [Term] @@ -400050,10 +405752,13 @@ intersection_of: has_modifier MONDO:0024646 ! refractory id: MONDO:0036511 name: childhood malignant kidney neoplasm def: "A malignant neoplasm that affects the kidney and occurs in childhood." [NCIT:C123907] +synonym: "childhood kidney cancer" EXACT [MONDO:design_pattern] synonym: "childhood malignant kidney neoplasm" EXACT [NCIT:C123907] synonym: "childhood malignant kidney tumor" EXACT [NCIT:C123907] synonym: "childhood malignant renal neoplasm" EXACT [NCIT:C123907] synonym: "childhood malignant renal tumor" EXACT [NCIT:C123907] +synonym: "kidney cancer of childhood" EXACT [MONDO:design_pattern] +synonym: "pediatric kidney cancer" EXACT [MONDO:design_pattern] xref: NCIT:C123907 {source="MONDO:equivalentTo"} xref: UMLS:C4086162 {source="NCIT:C123907", source="MONDO:equivalentTo"} is_a: MONDO:0002367 {source="MONDOLEX:0036511", source="NCIT:C123907"} ! kidney cancer @@ -400093,7 +405798,7 @@ xref: EFO:1000429 {source="MONDO:equivalentTo"} xref: NCIT:C2880 {source="MONDO:equivalentTo"} xref: SCTID:254866007 {source="MONDO:equivalentTo"} xref: UMLS:C0003810 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C2880", source="MONDO:equivalentTo"} -is_a: MONDO:0006055 ! sex cord-stromal tumor +is_a: MONDO:0006055 {source="NCIT:C2880/inferred"} ! sex cord-stromal tumor relationship: disease_has_location UBERON:0000992 ! ovary [Term] @@ -400107,7 +405812,7 @@ xref: ICDO:8900/0 {source="NCIT:C3358"} xref: MESH:D012207 {source="MONDO:equivalentTo"} xref: NCIT:C3358 {source="MONDO:equivalentTo"} xref: UMLS:C0035411 {source="NCIT:C3358", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003061 {source="MONDOLEX:0036688", source="NCIT:C3358"} ! benign muscle neoplasm +is_a: MONDO:0003061 {source="MESH:D012207", source="MONDOLEX:0036688", source="NCIT:C3358"} ! benign muscle neoplasm [Term] id: MONDO:0036696 @@ -400264,6 +405969,7 @@ def: "A neoplasm that arises from the testis during childhood." [NCIT:C5053] synonym: "childhood neoplasm of testis" EXACT [NCIT:C5053] synonym: "childhood neoplasm of the testis" EXACT [NCIT:C5053] synonym: "childhood testicular neoplasm" EXACT [NCIT:C5053] +synonym: "neoplasm of testis of childhood" EXACT [MONDO:design_pattern] synonym: "pediatric neoplasm of testis" EXACT [NCIT:C5053] synonym: "pediatric neoplasm of the testis" EXACT [NCIT:C5053] synonym: "pediatric testicular neoplasm" EXACT [NCIT:C5053] @@ -400283,7 +405989,7 @@ synonym: "banti's spleen" RELATED [] synonym: "congestive splenomegaly" EXACT [] synonym: "fibrocongestive splenomegaly" RELATED [] xref: SCTID:19058002 {source="MONDO:equivalentTo"} -is_a: MONDO:0002332 ! splenic disease +is_a: MONDO:0002332 {source="linkedlifedata/inferred"} ! splenic disease relationship: disease_has_major_feature HP:0001744 ! Splenomegaly [Term] @@ -400295,7 +406001,7 @@ xref: ICDO:8600/0 {source="NCIT:C3405"} xref: MESH:D013798 {source="MONDO:equivalentTo"} xref: NCIT:C3405 {source="MONDO:equivalentTo"} xref: UMLS:C0039747 {source="NCIT:C3405"} -is_a: MONDO:0006055 ! sex cord-stromal tumor +is_a: MONDO:0006055 {source="NCIT:C3405/inferred"} ! sex cord-stromal tumor [Term] id: MONDO:0037253 @@ -400304,6 +406010,7 @@ def: "A stromal tumor that arises from the ovary and is characterized by the pre synonym: "ovarian theca cell neoplasm" EXACT [NCIT:C66989] synonym: "ovarian theca cell tumor" EXACT [NCIT:C66989] synonym: "ovarian thecoma" EXACT [NCIT:C66989] +synonym: "ovary thecoma" EXACT [MONDO:design_pattern] synonym: "theca cell neoplasm of ovary" EXACT [NCIT:C66989] synonym: "theca cell neoplasm of the ovary" EXACT [NCIT:C66989] synonym: "theca cell tumor of ovary" EXACT [NCIT:C66989] @@ -400402,8 +406109,8 @@ def: "A cancer that involves the cauda equina." [MONDO:patterns/location] synonym: "malignant neoplasm of cauda equina" EXACT [] xref: SCTID:363477002 {source="MONDO:equivalentTo"} xref: UMLS:C0349017 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003164 {source="linkedlife"} ! cauda equina neoplasm -is_a: MONDO:0021089 {source="linkedlife"} ! peripheral nervous system cancer +is_a: MONDO:0003164 {source="linkedlifedata"} ! cauda equina neoplasm +is_a: MONDO:0021089 {source="linkedlifedata"} ! peripheral nervous system cancer intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0012337 ! cauda equina @@ -400414,7 +406121,7 @@ def: "A benign neoplasm that involves the cauda equina." [MONDO:patterns/locatio synonym: "benign neoplasm of cauda equina" EXACT [] xref: SCTID:92047003 {source="MONDO:equivalentTo"} xref: UMLS:C0686404 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003164 {source="linkedlife"} ! cauda equina neoplasm +is_a: MONDO:0003164 {source="linkedlifedata"} ! cauda equina neoplasm intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0012337 ! cauda equina @@ -400482,7 +406189,7 @@ synonym: "neoplasm of retromolar area" EXACT [] synonym: "tumor of retromolar area" RELATED [] xref: SCTID:126804008 {source="MONDO:equivalentTo"} xref: UMLS:C0345590 {source="MONDO:equivalentTo"} -is_a: MONDO:0021580 {source="linkedlife"} ! neoplasm of jaw +is_a: MONDO:0021580 {source="linkedlifedata"} ! neoplasm of jaw [Term] id: MONDO:0037745 @@ -400495,7 +406202,7 @@ synonym: "fibromyxoma, benign" EXACT [NCIT:C66760] xref: ICDO:8811/0 {source="NCIT:C66760"} xref: NCIT:C66760 {source="MONDO:equivalentTo"} xref: UMLS:C0205766 {source="NCIT:C66760"} -is_a: MONDO:0006424 {source="NCIT:C7148"} ! soft tissue neoplasm +is_a: MONDO:0006424 {source="NCIT:C66760/inferred", source="NCIT:C7148"} ! soft tissue neoplasm [Term] id: MONDO:0037746 @@ -400533,9 +406240,11 @@ intersection_of: disease_has_major_feature HP:0010980 ! Hyperlipoproteinemia id: MONDO:0037792 name: carbohydrate metabolism disease def: "A disease that has its basis in the disruption of carbohydrate metabolic process." [MONDO:patterns/basis_in_disruption_of_process] +synonym: "carbohydrate metabolic process disease" EXACT [MONDO:design_pattern] +synonym: "disorder of carbohydrate metabolic process" EXACT [MONDO:design_pattern] synonym: "disorder of carbohydrate metabolism" EXACT [] xref: SCTID:20957000 {source="MONDO:equivalentTo"} -is_a: MONDO:0005066 {source="linkedlife"} ! metabolic disease +is_a: MONDO:0005066 {source="linkedlifedata"} ! metabolic disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0005975 ! carbohydrate metabolic process @@ -400543,7 +406252,9 @@ intersection_of: disease_has_basis_in_disruption_of GO:0005975 ! carbohydrate me id: MONDO:0037807 name: glycerol metabolism disease def: "A disease that has its basis in the disruption of glycerol metabolic process." [MONDO:patterns/basis_in_disruption_of_process] +synonym: "disorder of glycerol metabolic process" EXACT [MONDO:design_pattern] synonym: "disorder of glycerol metabolism" EXACT [] +synonym: "glycerol metabolic process disease" EXACT [MONDO:design_pattern] xref: SCTID:237977000 {source="MONDO:equivalentTo"} xref: UMLS:C0342762 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted @@ -400556,8 +406267,10 @@ name: porphyrin metabolism disease def: "A disease that has its basis in the disruption of porphyrin-containing compound metabolic process." [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of porphyrin and heme metabolism" RELATED [] synonym: "disorder of porphyrin metabolism" EXACT [] +synonym: "disorder of porphyrin-containing compound metabolic process" EXACT [MONDO:design_pattern] +synonym: "porphyrin-containing compound metabolic process disease" EXACT [MONDO:design_pattern] xref: SCTID:29094004 {source="MONDO:equivalentTo"} -is_a: MONDO:0005066 {source="linkedlife"} ! metabolic disease +is_a: MONDO:0005066 {source="linkedlifedata"} ! metabolic disease is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0006778 ! porphyrin-containing compound metabolic process @@ -400567,6 +406280,8 @@ id: MONDO:0037829 name: purine metabolism disease def: "A disease that has its basis in the disruption of purine nucleobase metabolic process." [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of purine metabolism" EXACT [] +synonym: "disorder of purine nucleobase metabolic process" EXACT [MONDO:design_pattern] +synonym: "purine nucleobase metabolic process disease" EXACT [MONDO:design_pattern] xref: SCTID:32612005 {source="MONDO:equivalentTo"} xref: UMLS:C0268104 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted @@ -400577,11 +406292,15 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006144 ! purine nucleoba id: MONDO:0037847 name: vertebral joint disease def: "A disease that involves the intervertebral joint." [MONDO:patterns/location] +synonym: "disease of intervertebral joint" EXACT [MONDO:design_pattern] +synonym: "disorder of intervertebral joint" EXACT [MONDO:design_pattern] synonym: "disorder of joint of spine" EXACT [] +synonym: "intervertebral joint disease" EXACT [MONDO:design_pattern] +synonym: "intervertebral joint disease or disorder" EXACT [MONDO:design_pattern] synonym: "spondyloarthropathy" RELATED [] xref: SCTID:372109003 {source="MONDO:equivalentTo"} -is_a: MONDO:0000812 {source="linkedlife"} ! vertebral column disease -is_a: MONDO:0006816 {source="linkedlife"} ! arthropathy +is_a: MONDO:0000812 {source="linkedlifedata"} ! vertebral column disease +is_a: MONDO:0006816 {source="linkedlifedata"} ! arthropathy intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001468 ! intervertebral joint @@ -400592,15 +406311,18 @@ synonym: "disorder of fat oxidation" RELATED [] synonym: "disorder of fatty acid metabolism" EXACT [] synonym: "disorders of fatty-acid metabolism" RELATED [] xref: SCTID:39929009 {source="MONDO:equivalentTo"} -is_a: MONDO:0000688 {source="linkedlife"} ! inherited organic acidemia -is_a: MONDO:0019052 {source="linkedlife"} ! inborn errors of metabolism +is_a: MONDO:0000688 {source="linkedlifedata"} ! inherited organic acidemia +is_a: MONDO:0019052 {source="linkedlifedata"} ! inborn errors of metabolism intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_disrupts GO:0006631 ! fatty acid metabolic process [Term] id: MONDO:0037870 name: valine metabolism disease +def: "A disease that has its basis in the disruption of valine metabolic process." [MONDO:design_pattern] +synonym: "disorder of valine metabolic process" EXACT [MONDO:design_pattern] synonym: "disorder of valine metabolism" EXACT [] +synonym: "valine metabolic process disease" EXACT [MONDO:design_pattern] xref: SCTID:444756000 {source="MONDO:equivalentTo"} xref: UMLS:C2919304 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted @@ -400613,7 +406335,9 @@ name: amino acid metabolism disease def: "A disease that has its basis in the disruption of cellular amino acid metabolic process." [MONDO:patterns/basis_in_disruption_of_process] synonym: "amino acid disorder" RELATED [] synonym: "amino acidopathy" RELATED [] +synonym: "cellular amino acid metabolic process disease" EXACT [MONDO:design_pattern] synonym: "disorder of amino acid metabolism" EXACT [] +synonym: "disorder of cellular amino acid metabolic process" EXACT [MONDO:design_pattern] xref: NCIT:C97090 {source="MONDO:equivalentTo"} xref: SCTID:44779003 {source="MONDO:equivalentTo"} is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted @@ -400628,7 +406352,7 @@ comment: B. bronchiseptica infects a wide range of mammals (including humans), w synonym: "Bordetella infection" RELATED [] synonym: "Bordetella infectious disease" RELATED [] synonym: "bordetellosis" EXACT [] -xref: ICD9:041.85 {source="linkedlife"} +xref: ICD9:041.85 {source="linkedlifedata"} xref: SCTID:26484003 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:517 ! Bordetella @@ -400638,9 +406362,11 @@ id: MONDO:0037937 name: pyrimidine metabolism disease def: "A disease that has its basis in the disruption of pyrimidine nucleobase metabolic process." [MONDO:patterns/basis_in_disruption_of_process] synonym: "disorder of pyrimidine metabolism" EXACT [] +synonym: "disorder of pyrimidine nucleobase metabolic process" EXACT [MONDO:design_pattern] +synonym: "pyrimidine nucleobase metabolic process disease" EXACT [MONDO:design_pattern] xref: SCTID:85444005 {source="MONDO:equivalentTo"} xref: UMLS:C0268127 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0005066 {source="linkedlife"} ! metabolic disease +is_a: MONDO:0005066 {source="linkedlifedata"} ! metabolic disease is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0006206 ! pyrimidine nucleobase metabolic process @@ -400658,7 +406384,7 @@ def: "Porphyria is a group of diseases in which substances called porphyrins bui comment: Represents both genetic and sporadic forms synonym: "porphyria" EXACT [] xref: SCTID:418470004 {source="MONDO:equivalentTo"} -is_a: MONDO:0037821 {source="linkedlife"} ! porphyrin metabolism disease +is_a: MONDO:0037821 {source="linkedlifedata"} ! porphyrin metabolism disease [Term] id: MONDO:0037940 @@ -400667,7 +406393,7 @@ def: "An instance of auditory system disease that is caused by an inherited modi synonym: "auditory system hereditary disorder" EXACT [] xref: SCTID:362991006 {source="MONDO:equivalentTo"} xref: UMLS:C1285174 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0002409 {source="linkedlife"} ! auditory system disease +is_a: MONDO:0002409 {source="linkedlifedata"} ! auditory system disease intersection_of: MONDO:0002409 ! auditory system disease intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -400678,8 +406404,8 @@ synonym: "glutathione metabolism disorder, inherited" EXACT [] synonym: "inborn error of glutathione metabolism" EXACT [] xref: SCTID:72262000 {source="MONDO:equivalentTo"} xref: UMLS:C0268518 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0019052 {source="linkedlife"} ! inborn errors of metabolism -is_a: MONDO:0019241 {source="linkedlife"} ! inborn disorder of the gamma-glutamyl cycle +is_a: MONDO:0019052 {source="linkedlifedata"} ! inborn errors of metabolism +is_a: MONDO:0019241 {source="linkedlifedata"} ! inborn disorder of the gamma-glutamyl cycle intersection_of: MONDO:0019052 ! inborn errors of metabolism intersection_of: disease_has_basis_in_disruption_of GO:0006749 ! glutathione metabolic process @@ -400698,8 +406424,9 @@ id: MONDO:0040654 name: autosomal dominant oculocutaneous albinism def: "Autosomal dominant form of oculocutaneous albinism." [MONDO:patterns/autosomal_dominant] synonym: "autosomal dominant oculocutaneous albinism" EXACT [] +synonym: "oculocutaneous albinism, autosomal dominant" EXACT [MONDO:design_pattern] xref: SCTID:79417003 {source="MONDO:equivalentTo"} -is_a: MONDO:0018910 {source="linkedlife"} ! oculocutaneous albinism +is_a: MONDO:0018910 {source="linkedlifedata"} ! oculocutaneous albinism intersection_of: MONDO:0018910 ! oculocutaneous albinism intersection_of: has_modifier HP:0000006 ! Autosomal dominant inheritance @@ -400711,7 +406438,7 @@ synonym: "G6PD class V variant anemia" EXACT [] synonym: "glucose-6-phosphate dehydrogenase deficiency class V variant anemia" EXACT [] xref: SCTID:80963002 {source="MONDO:equivalentTo"} xref: UMLS:C0272060 {source="MONDO:equivalentTo"} -is_a: MONDO:0005775 {source="linkedlife"} ! glucosephosphate dehydrogenase deficiency +is_a: MONDO:0005775 {source="linkedlifedata"} ! glucosephosphate dehydrogenase deficiency [Term] id: MONDO:0040673 @@ -400733,7 +406460,7 @@ synonym: "orgasm disorder" EXACT [] synonym: "orgasmic dysfunction" RELATED [] xref: ICD10:F52.3 {source="MONDO:equivalentTo"} xref: SCTID:82636008 {source="MONDO:equivalentTo"} -is_a: MONDO:0000947 {source="linkedlife"} ! psychosexual disorder +is_a: MONDO:0000947 {source="linkedlifedata"} ! psychosexual disorder intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_disrupts MF:0000061 ! orgasm @@ -400745,7 +406472,7 @@ synonym: "myofibroblastoma" EXACT [NCIT:C49012] xref: ICDO:8825/0 {source="NCIT:C49012"} xref: NCIT:C49012 {source="MONDO:equivalentTo"} xref: UMLS:C0242404 {source="NCIT:C49012"} -is_a: MONDO:0006209 {source="NCIT:C7147"} ! fibroblastic neoplasm +is_a: MONDO:0006209 {source="NCIT:C49012/inferred", source="NCIT:C7147"} ! fibroblastic neoplasm [Term] id: MONDO:0040676 @@ -400808,7 +406535,7 @@ name: subacute bursitis synonym: "subacute bursitis" EXACT [] xref: SCTID:109298000 {source="MONDO:equivalentTo"} xref: UMLS:C1290159 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002471 {source="linkedlife"} ! bursitis +is_a: MONDO:0002471 {source="linkedlifedata"} ! bursitis [Term] id: MONDO:0040699 @@ -400830,7 +406557,7 @@ synonym: "orbit dermoid cyst" EXACT [NCIT:C4548] xref: NCIT:C4548 {source="MONDO:equivalentTo"} xref: SCTID:255002002 {source="MONDO:equivalentTo"} xref: UMLS:C0346356 {source="NCIT:C4548", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002378 {source="NCIT:C4548"} ! dermoid cyst +is_a: MONDO:0002378 {source="NCIT:C4548", source="linkedlifedata"} ! dermoid cyst intersection_of: MONDO:0002378 ! dermoid cyst intersection_of: disease_has_location UBERON:0004088 ! orbital region @@ -400843,7 +406570,7 @@ synonym: "infection caused by Campylobacter fetus" RELATED [] synonym: "infection caused by vibrio fetus" RELATED [] xref: SCTID:111835002 {source="MONDO:equivalentTo"} xref: UMLS:C0275979 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0005688 {source="linkedlife"} ! campylobacteriosis +is_a: MONDO:0005688 {source="linkedlifedata"} ! campylobacteriosis intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:196 ! Campylobacter fetus @@ -400854,7 +406581,7 @@ synonym: "infection caused by Pseudomonas aeruginosa" RELATED [] synonym: "infection due to Pseudomonas aeruginosa" EXACT [] xref: SCTID:11218009 {source="MONDO:equivalentTo"} xref: UMLS:C0276075 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005141 {source="linkedlife"} ! Pseudomonas infection +is_a: MONDO:0005141 {source="linkedlifedata"} ! Pseudomonas infection intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:287 ! Pseudomonas aeruginosa @@ -400866,7 +406593,7 @@ synonym: "tuberculosis infection latent" RELATED [] xref: MESH:D055985 {source="MONDO:equivalentTo"} xref: SCTID:11999007 {source="MONDO:equivalentTo"} xref: UMLS:C1609538 {source="MONDO:equivalentTo"} -is_a: MONDO:0018076 {source="linkedlife"} ! tuberculosis +is_a: MONDO:0018076 {source="MESH:D055985", source="linkedlifedata"} ! tuberculosis [Term] id: MONDO:0040797 @@ -400882,7 +406609,7 @@ is_obsolete: true id: MONDO:0040870 name: primary polydipsia def: "A form of polydipsia characterised by excessive fluid intake in the absence of physiological stimuli to drink." [https://en.wikipedia.org/wiki/Primary_polydipsia] -is_a: MONDO:0001162 {source="linkedlife"} ! impulse control disorder +is_a: MONDO:0001162 {source="linkedlifedata"} ! impulse control disorder relationship: disease_has_feature HP:0001959 ! Polydipsia [Term] @@ -400908,7 +406635,7 @@ name: latent early syphilis synonym: "latent early syphilis" EXACT [] xref: SCTID:186867005 {source="MONDO:equivalentTo"} xref: UMLS:C0275842 {source="MONDO:equivalentTo"} -is_a: MONDO:0005822 {source="linkedlife"} ! latent syphilis +is_a: MONDO:0005822 {source="linkedlifedata"} ! latent syphilis [Term] id: MONDO:0040923 @@ -400918,8 +406645,8 @@ synonym: "late latent syphilis" EXACT [] xref: NCIT:C128371 {source="MONDO:equivalentTo"} xref: SCTID:186903006 {source="MONDO:equivalentTo"} xref: UMLS:C1260915 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004497 {source="linkedlife"} ! tertiary syphilis -is_a: MONDO:0005822 {source="MONDOLEX:0040923", source="linkedlife"} ! latent syphilis +is_a: MONDO:0004497 {source="linkedlifedata"} ! tertiary syphilis +is_a: MONDO:0005822 {source="MONDOLEX:0040923", source="NCIT:C128371", source="linkedlifedata"} ! latent syphilis [Term] id: MONDO:0040925 @@ -400927,7 +406654,7 @@ name: latent yaws synonym: "latent yaws" EXACT [] xref: SCTID:186973005 {source="MONDO:equivalentTo"} xref: UMLS:C0153240 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006019 {source="linkedlife"} ! yaws +is_a: MONDO:0006019 {source="linkedlifedata"} ! yaws [Term] id: MONDO:0040964 @@ -400937,7 +406664,7 @@ synonym: "superimposed infection" EXACT [] synonym: "suprainfection" RELATED [] xref: SCTID:193198003 {source="MONDO:equivalentTo"} xref: UMLS:C0038826 {source="MONDO:equivalentTo"} -is_a: MONDO:0005550 {source="linkedlife"} ! infectious disease +is_a: MONDO:0005550 {source="linkedlifedata"} ! infectious disease [Term] id: MONDO:0040998 @@ -400947,7 +406674,7 @@ synonym: "infection caused by Pasteurella multocida" RELATED [] xref: GARD:0009774 {source="MONDO:equivalentTo"} xref: SCTID:197718007 {source="MONDO:equivalentTo"} xref: UMLS:C1260911 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005901 {source="linkedlife"} ! pasteurellosis +is_a: MONDO:0005901 {source="linkedlifedata"} ! pasteurellosis intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:747 ! Pasteurella multocida @@ -400958,7 +406685,7 @@ synonym: "contact dermatitis caused by poison oak" EXACT [] synonym: "contact dermatitis due to poison oak" EXACT [] xref: SCTID:200824008 {source="MONDO:equivalentTo"} xref: UMLS:C0263283 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006616 {source="linkedlife"} ! toxicodendron dermatitis +is_a: MONDO:0006616 {source="linkedlifedata"} ! toxicodendron dermatitis [Term] id: MONDO:0041052 @@ -400968,8 +406695,8 @@ synonym: "post-zoster neuralgia" RELATED [] synonym: "postherpetic neuralgia" EXACT [] xref: SCTID:2177002 {source="MONDO:equivalentTo"} xref: UMLS:C0032768 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0021674 {source="linkedlife"} ! post-viral disorder -is_a: MONDO:0021677 {source="linkedlife"} ! post-infectious neuralgia +is_a: MONDO:0021674 {source="linkedlifedata"} ! post-viral disorder +is_a: MONDO:0021677 {source="linkedlifedata"} ! post-infectious neuralgia [Term] id: MONDO:0041086 @@ -400995,8 +406722,8 @@ synonym: "malignant otitis externa caused by Pseudomonas aeruginosa" EXACT [] synonym: "malignant otitis externa due to Pseudomonas aeruginosa" EXACT [] xref: SCTID:232230009 {source="MONDO:equivalentTo"} xref: UMLS:C0395818 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001050 {source="MONDOLEX:0041095", source="linkedlife"} ! malignant otitis externa -is_a: MONDO:0005141 {source="linkedlife"} ! Pseudomonas infection +is_a: MONDO:0001050 {source="MONDOLEX:0041095", source="linkedlifedata"} ! malignant otitis externa +is_a: MONDO:0005141 {source="linkedlifedata"} ! Pseudomonas infection intersection_of: MONDO:0001050 ! malignant otitis externa intersection_of: realized_in_response_to_stimulus NCBITaxon:287 ! Pseudomonas aeruginosa @@ -401006,14 +406733,14 @@ name: peripheral ischemia synonym: "peripheral ischemia" EXACT [] synonym: "peripheral ischemic vascular disease" RELATED [] xref: SCTID:233958001 {source="MONDO:equivalentTo"} -is_a: MONDO:0005053 {source="linkedlife"} ! ischemic disease +is_a: MONDO:0005053 {source="linkedlifedata"} ! ischemic disease [Term] id: MONDO:0041154 name: functional disorder of bladder neck and sphincter mechanism synonym: "functional disorder of bladder neck and sphincter mechanism" EXACT [] xref: SCTID:236644005 {source="MONDO:equivalentTo"} -is_a: MONDO:0006026 {source="linkedlife"} ! urinary bladder disease +is_a: MONDO:0006026 {source="linkedlifedata"} ! urinary bladder disease [Term] id: MONDO:0041161 @@ -401025,8 +406752,8 @@ xref: HP:0040298 {source="MONDO:otherHierarchy"} xref: NCIT:C3013 {source="MONDO:equivalentTo"} xref: SCTID:237072009 {source="MONDO:equivalentTo"} xref: UMLS:C0014173 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000931 {source="linkedlife"} ! endometrial disease -is_a: MONDO:0002654 {source="linkedlife"} ! uterine disease +is_a: MONDO:0000931 {source="NCIT:C3013", source="linkedlifedata"} ! endometrial disease +is_a: MONDO:0002654 {source="NCIT:C3013/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! uterine disease [Term] id: MONDO:0041167 @@ -401036,7 +406763,7 @@ comment: Editor note: consider ceding to HPO synonym: "carcinoid crisis" EXACT [] xref: SCTID:237833006 {source="MONDO:equivalentTo"} xref: UMLS:C0342569 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006689 {source="linkedlife"} ! carcinoid syndrome +is_a: MONDO:0006689 {source="linkedlifedata"} ! carcinoid syndrome [Term] id: MONDO:0041182 @@ -401046,7 +406773,7 @@ synonym: "polymorphic photodermatitis" RELATED [] synonym: "polymorphous light eruption" EXACT [] xref: SCTID:238525001 {source="MONDO:equivalentTo"} xref: UMLS:C0031736 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0006597 {source="MONDOLEX:0041182", source="linkedlife"} ! photosensitivity disease +is_a: MONDO:0006597 {source="MONDOLEX:0041182", source="linkedlifedata"} ! photosensitivity disease [Term] id: MONDO:0041186 @@ -401056,7 +406783,7 @@ synonym: "lupus erythematosus and erythema multiforme-like syndrome" EXACT [] synonym: "Rowell's syndrome" RELATED [] xref: SCTID:238926009 {source="MONDO:equivalentTo"} xref: UMLS:C0406637 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0005282 {source="linkedlife"} ! cutaneous lupus erythematosus +is_a: MONDO:0005282 {source="linkedlifedata"} ! cutaneous lupus erythematosus relationship: disease_shares_features_of MONDO:0006545 ! erythema multiforme [Term] @@ -401065,8 +406792,8 @@ name: diphtheritic myocarditis synonym: "diphtheritic myocarditis" EXACT [] xref: SCTID:26117009 {source="MONDO:equivalentTo"} xref: UMLS:C0152952 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001114 {source="linkedlife"} ! bacterial myocarditis -is_a: MONDO:0005504 {source="linkedlife"} ! diphtheria +is_a: MONDO:0001114 {source="linkedlifedata"} ! bacterial myocarditis +is_a: MONDO:0005504 {source="linkedlifedata"} ! diphtheria intersection_of: MONDO:0004496 ! myocarditis intersection_of: realized_in_response_to_stimulus NCBITaxon:1717 ! Corynebacterium diphtheriae @@ -401086,11 +406813,12 @@ id: MONDO:0041284 name: primary motor cortex epilepsy def: "A epilepsy that involves the primary motor cortex." [MONDO:patterns/location] comment: Editor note: TODO. Request Jacksonian seizures from HP? +synonym: "epilepsy of primary motor cortex" EXACT [MONDO:design_pattern] synonym: "Jacksonian epilepsy" RELATED [] synonym: "motor cortex epilepsy" RELATED [] xref: SCTID:267592003 {source="MONDO:equivalentTo"} xref: UMLS:C0234978 {source="MONDO:equivalentTo"} -is_a: MONDO:0002612 {source="https://en.wikipedia.org/wiki/Frontal_lobe_epilepsy", source="linkedlife"} ! frontal lobe epilepsy +is_a: MONDO:0002612 {source="https://en.wikipedia.org/wiki/Frontal_lobe_epilepsy", source="linkedlifedata"} ! frontal lobe epilepsy intersection_of: MONDO:0005027 ! epilepsy intersection_of: disease_has_location UBERON:0001384 ! primary motor cortex @@ -401098,11 +406826,13 @@ intersection_of: disease_has_location UBERON:0001384 ! primary motor cortex id: MONDO:0041295 name: acute papillary necrosis def: "Acute form of kidney papillary necrosis." [MONDO:patterns/acute] +synonym: "acute kidney papillary necrosis" EXACT [MONDO:design_pattern] synonym: "acute necrotizing papillitis" RELATED [] synonym: "acute papillary necrosis" EXACT [] synonym: "acute renal medullary necrosis" RELATED [] +synonym: "kidney papillary necrosis, acute" EXACT [MONDO:design_pattern] xref: SCTID:270494003 {source="MONDO:equivalentTo"} -is_a: MONDO:0006821 {source="linkedlife"} ! kidney papillary necrosis +is_a: MONDO:0006821 {source="linkedlifedata"} ! kidney papillary necrosis intersection_of: MONDO:0006821 ! kidney papillary necrosis intersection_of: has_modifier PATO:0000389 ! acute @@ -401112,9 +406842,10 @@ name: acute epiglottitis def: "Acute form of epiglottitis." [MONDO:patterns/acute] synonym: "acute epiglottitis" EXACT [] synonym: "acute epiglottitis and supraglottitis" RELATED [] +synonym: "epiglottitis, acute" EXACT [MONDO:design_pattern] xref: SCTID:29608009 {source="MONDO:equivalentTo"} -is_a: MONDO:0004777 {source="linkedlife"} ! acute laryngitis -is_a: MONDO:0005753 {source="linkedlife"} ! epiglottitis +is_a: MONDO:0004777 {source="linkedlifedata"} ! acute laryngitis +is_a: MONDO:0005753 {source="linkedlifedata"} ! epiglottitis intersection_of: MONDO:0005753 ! epiglottitis intersection_of: has_modifier PATO:0000389 ! acute @@ -401138,7 +406869,7 @@ synonym: "nonphysiologic acuity loss" RELATED [] synonym: "nonphysiologic vision loss" RELATED [] xref: SCTID:313165001 {source="MONDO:equivalentTo"} xref: UMLS:C0730512 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001941 {source="linkedlife"} ! blindness (disorder) +is_a: MONDO:0001941 {source="linkedlifedata"} ! blindness (disorder) [Term] id: MONDO:0041447 @@ -401150,7 +406881,7 @@ synonym: "metastatic neoplasm to the colon" EXACT [NCIT:C8411] synonym: "metastatic tumor to the colon" EXACT [NCIT:C8411] xref: NCIT:C8411 {source="MONDO:equivalentTo"} xref: UMLS:C0346974 {source="NCIT:C8411", source="MONDO:equivalentTo"} -is_a: MONDO:0024880 {source="NCIT:C4581"} ! metastatic malignant neoplasm +is_a: MONDO:0024880 {source="NCIT:C4581", source="NCIT:C8411/inferred"} ! metastatic malignant neoplasm intersection_of: MONDO:0024880 ! metastatic malignant neoplasm intersection_of: disease_arises_from_feature MONDO:0021063 ! malignant colon neoplasm relationship: excluded_subClassOf MONDO:0021063 {source="NCIT:C8411"} ! malignant colon neoplasm @@ -401161,7 +406892,7 @@ name: metastasis from malignant tumor of colon synonym: "metastasis from malignant tumor of colon" EXACT [] xref: SCTID:314998002 {source="MONDO:equivalentTo"} xref: UMLS:C1282500 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0024881 {source="linkedlife"} ! secondary malignant neoplasm +is_a: MONDO:0024881 {source="linkedlifedata"} ! secondary malignant neoplasm intersection_of: MONDO:0021063 ! malignant colon neoplasm intersection_of: has_modifier PATO:0002098 ! neoplastic, metastatic @@ -401172,7 +406903,7 @@ comment: Editor note: consider obsoleting synonym: "pregnancy with abortive outcome" RELATED [] xref: ICD10:O00.O08 {source="MONDO:equivalentTo"} xref: SCTID:363681007 {source="MONDO:equivalentTo"} -is_a: MONDO:0024575 {source="linkedlife"} ! pregnancy disorder +is_a: MONDO:0024575 {source="linkedlifedata"} ! pregnancy disorder [Term] id: MONDO:0041535 @@ -401182,7 +406913,7 @@ synonym: "Masshoff's syndrome" EXACT [] synonym: "mesenteric lymphadenitis due to Yersinia pseudotuberculosis" EXACT [] xref: SCTID:13272007 {source="MONDO:equivalentTo"} xref: UMLS:C0275758 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0007024 {source="MONDOLEX:0041535"} ! Yersinia pseudotuberculosis infectious disease +is_a: MONDO:0007024 {source="MONDOLEX:0041535", source="linkedlifedata"} ! Yersinia pseudotuberculosis infectious disease intersection_of: MONDO:0001116 ! mesenteric lymphadenitis intersection_of: realized_in_response_to_stimulus NCBITaxon:633 ! Yersinia pseudotuberculosis @@ -401194,7 +406925,7 @@ synonym: "FESLF" EXACT [PMID:26819960] synonym: "Izumi fever" EXACT [PMID:26819960] xref: SCTID:47277009 {source="MONDO:equivalentTo"} xref: UMLS:C0277513 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0007024 {source="PMID:26819960"} ! Yersinia pseudotuberculosis infectious disease +is_a: MONDO:0007024 {source="PMID:26819960", source="linkedlifedata"} ! Yersinia pseudotuberculosis infectious disease [Term] id: MONDO:0041656 @@ -401205,7 +406936,7 @@ synonym: "ST segment elevation myocardial infarction" EXACT [] synonym: "STEMI" EXACT [https://www.ecgmedicaltraining.com/what-is-a-stemi/] xref: EFO:0008585 {source="MONDO:equivalentTo"} xref: SCTID:401303003 {source="MONDO:equivalentTo"} -is_a: MONDO:0004781 {source="linkedlife"} ! acute myocardial infarction +is_a: MONDO:0004781 {source="linkedlifedata"} ! acute myocardial infarction [Term] id: MONDO:0041751 @@ -401214,7 +406945,7 @@ def: "A lepromatous form of leprosy that is characterized by numerous infiltrate synonym: "lepromatous leprosy" EXACT [MONDO:cjm, PMID:27219008] synonym: "multibacillary leprosy" EXACT [] xref: SCTID:416257001 {source="MONDO:equivalentTo"} -is_a: MONDO:0005124 {source="linkedlife"} ! leprosy +is_a: MONDO:0005124 {source="linkedlifedata"} ! leprosy relationship: disease_triggers GO:0042092 ! type 2 immune response [Term] @@ -401224,7 +406955,7 @@ def: "A tuberculoid form of leprosy that is characterized by a small number of h synonym: "paucibacillary leprosy" EXACT [] synonym: "tuberculoid leprosy" EXACT [MONDO:cjm, PMID:27219008] xref: SCTID:416483009 {source="MONDO:equivalentTo"} -is_a: MONDO:0005124 {source="linkedlife"} ! leprosy +is_a: MONDO:0005124 {source="linkedlifedata"} ! leprosy relationship: disease_triggers GO:0042088 ! T-helper 1 type immune response [Term] @@ -401233,7 +406964,7 @@ name: twin reversal arterial perfusion syndrome synonym: "twin reversal arterial perfusion syndrome" EXACT [] xref: SCTID:417006004 {source="MONDO:equivalentTo"} xref: UMLS:C1562817 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0019805 {source="linkedlife"} ! twin to twin transfusion syndrome +is_a: MONDO:0019805 {source="linkedlifedata"} ! twin to twin transfusion syndrome [Term] id: MONDO:0041775 @@ -401241,14 +406972,14 @@ name: intraoperative floppy iris syndrome synonym: "intraoperative floppy iris syndrome" EXACT [] xref: SCTID:418801006 {source="MONDO:equivalentTo"} xref: UMLS:C1688637 {source="MONDO:equivalentTo"} -is_a: MONDO:0002289 {source="linkedlife"} ! iris disease +is_a: MONDO:0002289 {source="linkedlifedata"} ! iris disease [Term] id: MONDO:0041806 name: drug-resistant tuberculosis synonym: "drug resistant tuberculosis" EXACT [] xref: SCTID:423709000 {source="MONDO:equivalentTo"} -is_a: MONDO:0018076 {source="linkedlife"} ! tuberculosis +is_a: MONDO:0018076 {source="linkedlifedata"} ! tuberculosis [Term] id: MONDO:0041825 @@ -401282,8 +407013,8 @@ def: "An pneumonia caused by infection with Staphylococcus aureus." [MONDO:patte synonym: "pneumonia caused by staphylococcus aureus" RELATED [] synonym: "pneumonia due to staphylococcus aureus" EXACT [] xref: SCTID:441658007 {source="MONDO:equivalentTo"} -is_a: MONDO:0005545 {source="linkedlife"} ! staphylococcus aureus infection -is_a: MONDO:0005970 {source="linkedlife"} ! staphylococcal pneumonia +is_a: MONDO:0005545 {source="linkedlifedata"} ! staphylococcus aureus infection +is_a: MONDO:0005970 {source="linkedlifedata"} ! staphylococcal pneumonia intersection_of: MONDO:0005249 ! pneumonia intersection_of: realized_in_response_to_stimulus NCBITaxon:1280 ! Staphylococcus aureus @@ -401296,9 +407027,9 @@ synonym: "gonococcal joint infection" RELATED [] synonym: "gonococcal rheumatism" RELATED [] xref: SCTID:44743006 {source="MONDO:equivalentTo"} xref: UMLS:C0153216 {source="MONDO:equivalentTo"} -is_a: MONDO:0004277 {source="linkedlife"} ! gonorrhea -is_a: MONDO:0004471 {source="linkedlife"} ! bacterial arthritis -is_a: MONDO:0021681 {source="linkedlife"} ! sexually transmitted disease +is_a: MONDO:0004277 {source="linkedlifedata"} ! gonorrhea +is_a: MONDO:0004471 {source="linkedlifedata"} ! bacterial arthritis +is_a: MONDO:0021681 {source="linkedlifedata", source="linkedlifedata/inferred"} ! sexually transmitted disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_inflammation_site UBERON:0000982 ! skeletal joint intersection_of: realized_in_response_to_stimulus NCBITaxon:485 ! Neisseria gonorrhoeae @@ -401311,14 +407042,14 @@ synonym: "biliary sclerosis" RELATED [] synonym: "fibrosis of bile duct" EXACT [] xref: SCTID:48124008 {source="MONDO:equivalentTo"} xref: UMLS:C0520571 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002887 {source="linkedlife"} ! bile duct disease +is_a: MONDO:0002887 {source="linkedlifedata"} ! bile duct disease [Term] id: MONDO:0041996 name: thallium poisoning synonym: "thallium poisoning" EXACT [] xref: SCTID:51040009 {source="MONDO:equivalentTo"} -is_a: MONDO:0023305 {source="linkedlife"} ! heavy metal poisoning +is_a: MONDO:0023305 {source="linkedlifedata"} ! heavy metal poisoning [Term] id: MONDO:0042233 @@ -401336,7 +407067,7 @@ xref: GARD:0001076 {source="MONDO:equivalentTo"} xref: NCIT:C116812 {source="MONDO:equivalentTo"} xref: SCTID:70572005 {source="MONDO:equivalentTo"} xref: UMLS:C0153252 {source="GARD:0001076"} -is_a: MONDO:0002026 {source="linkedlife"} ! candidiasis +is_a: MONDO:0002026 {source="NCIT:C116812", source="linkedlifedata"} ! candidiasis intersection_of: MONDO:0002026 ! candidiasis intersection_of: has_modifier MONDO:0022202 ! disseminated @@ -401357,8 +407088,8 @@ synonym: "fungal endocarditis" RELATED [] synonym: "mycotic endocarditis" EXACT [] xref: SCTID:86348002 {source="MONDO:equivalentTo"} xref: UMLS:C0276648 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000565 {source="linkedlife"} ! infective endocarditis -is_a: MONDO:0002041 {source="linkedlife"} ! fungal infectious disease +is_a: MONDO:0000565 {source="linkedlifedata"} ! infective endocarditis +is_a: MONDO:0002041 {source="linkedlifedata"} ! fungal infectious disease intersection_of: MONDO:0005025 ! endocarditis (disease) intersection_of: realized_in_response_to_stimulus NCBITaxon:4751 ! Fungi @@ -401368,7 +407099,7 @@ name: endomyometritis def: "An inflammation of the endometrium and the myometrium." [https://en.wikipedia.org/wiki/Endometritis#cite_note-isbn0-7817-5532-8-2, ISBN:0-7817-5532-8] synonym: "endomyometritis" EXACT [] xref: SCTID:88027004 {source="MONDO:equivalentTo"} -is_a: MONDO:0000918 {source="linkedlife"} ! endometritis +is_a: MONDO:0000918 {source="linkedlifedata"} ! endometritis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001295 ! endometrium intersection_of: disease_has_inflammation_site UBERON:0001296 ! myometrium @@ -401381,7 +407112,7 @@ synonym: "tertiary stage of yaws" RELATED [] synonym: "tertiary yaws" RELATED [] xref: SCTID:88037009 {source="MONDO:equivalentTo"} xref: UMLS:C0343833 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006019 {source="linkedlife"} ! yaws +is_a: MONDO:0006019 {source="linkedlifedata"} ! yaws [Term] id: MONDO:0042458 @@ -401394,7 +407125,7 @@ synonym: "trichiniasis caused by Trichinella spiralis" RELATED [] synonym: "trichinosis caused by Trichinella spiralis" RELATED [] xref: SCTID:88264003 {source="MONDO:equivalentTo"} xref: UMLS:C3887668 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0019444 {source="linkedlife"} ! Trichinellosis +is_a: MONDO:0019444 {source="linkedlifedata"} ! Trichinellosis intersection_of: MONDO:0000001 {source="Wikidata"} ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:6334 {source="Wikidata"} ! Trichinella spiralis @@ -401404,7 +407135,7 @@ name: disseminated sporotrichosis synonym: "disseminated sporotrichosis" EXACT [] xref: SCTID:91051003 {source="MONDO:equivalentTo"} xref: UMLS:C0276725 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005968 {source="linkedlife"} ! sporotrichosis +is_a: MONDO:0005968 {source="linkedlifedata"} ! sporotrichosis intersection_of: MONDO:0005968 ! sporotrichosis intersection_of: has_modifier MONDO:0022202 ! disseminated @@ -401440,17 +407171,21 @@ is_a: MONDO:0011023 ! hereditary mixed polyposis syndrome id: MONDO:0042487 name: uterine cervix carcinoma in situ def: "Stage 0 includes: (Tis, N0, M0). Tis: Carcinoma in situ. N0: No regional lymph node metastasis. M0: No distant metastasis. (AJCC 6th ed.) - 2003" [NCIT:C4000] +synonym: "carcinoma in situ of cervix" EXACT [DOID:8991] synonym: "carcinoma in situ of cervix aJCC v6" EXACT [NCIT:C4000] synonym: "carcinoma in situ of cervix uteri aJCC v6" EXACT [NCIT:C4000] synonym: "carcinoma in situ of the cervix aJCC v6" EXACT [NCIT:C4000] synonym: "carcinoma in situ of the cervix uteri aJCC v6" EXACT [NCIT:C4000] synonym: "carcinoma in situ of the uterine cervix aJCC v6" EXACT [NCIT:C4000] +synonym: "carcinoma in situ of uterine cervix" EXACT [DOID:8991] synonym: "carcinoma in situ of uterine cervix aJCC v6" EXACT [NCIT:C4000] synonym: "carcinoma of cervix stage 0" EXACT [DOID:8991] synonym: "cervical cancer stage 0 aJCC v6" EXACT [NCIT:C4000] synonym: "cervical carcinoma in situ aJCC v6" EXACT [NCIT:C4000] synonym: "cervical intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000] +synonym: "cervical intraepithelial neoplasia grade III with severe dysplasia" EXACT [DOID:8991] synonym: "cervical Severe dysplasia aJCC v6" EXACT [NCIT:C4000] +synonym: "Cervix Ca in situ" EXACT [DOID:8991] synonym: "cervix carcinoma in situ aJCC v6" EXACT [NCIT:C4000] synonym: "cervix intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "cervix Severe dysplasia aJCC v6" EXACT [NCIT:C4000] @@ -401460,6 +407195,9 @@ synonym: "cervix uteri intraepithelial neoplasia grade 3 aJCC v6" EXACT [NCIT:C4 synonym: "cervix uteri Severe dysplasia aJCC v6" EXACT [NCIT:C4000] synonym: "CIN 3 aJCC v6" EXACT [NCIT:C4000] synonym: "CIN grade 3 aJCC v6" EXACT [NCIT:C4000] +synonym: "CIN III" EXACT [DOID:8991] +synonym: "CIN III - carcinoma in situ of cervix" EXACT [DOID:8991] +synonym: "CIN III - severe dyskaryosis" EXACT [DOID:8991] synonym: "FIGO stage 0 carcinoma of cervix" EXACT [NCIT:C4000] synonym: "FIGO stage 0 carcinoma of cervix uteri" EXACT [NCIT:C4000] synonym: "FIGO stage 0 carcinoma of the cervix" EXACT [NCIT:C4000] @@ -401478,12 +407216,15 @@ synonym: "intraepithelial neoplasia of the cervix uteri grade 3 aJCC v6" EXACT [ synonym: "intraepithelial neoplasia of the uterine cervix grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "intraepithelial neoplasia of uterine cervix grade 3 aJCC v6" EXACT [NCIT:C4000] synonym: "Severe cervical dysplasia aJCC v6" EXACT [NCIT:C4000] +synonym: "Severe dysplasia of cervix" EXACT [DOID:8991] synonym: "Severe dysplasia of cervix aJCC v6" EXACT [NCIT:C4000] synonym: "Severe dysplasia of cervix uteri aJCC v6" EXACT [NCIT:C4000] synonym: "Severe dysplasia of the cervix aJCC v6" EXACT [NCIT:C4000] +synonym: "Severe Dysplasia of the Cervix Uteri" EXACT [DOID:8991] synonym: "Severe dysplasia of the cervix uteri aJCC v6" EXACT [NCIT:C4000] synonym: "Severe dysplasia of the uterine cervix aJCC v6" EXACT [NCIT:C4000] synonym: "Severe dysplasia of uterine cervix aJCC v6" EXACT [NCIT:C4000] +synonym: "squamous intraepithelial neoplasia, grade III" EXACT [DOID:8991] synonym: "stage 0 cervical cancer" EXACT [NCIT:C4000] synonym: "stage 0 cervical cancer aJCC v6" EXACT [NCIT:C4000] synonym: "uterine cervix carcinoma in situ aJCC v6" EXACT [NCIT:C4000] @@ -401511,7 +407252,7 @@ xref: SCTID:269491003 {source="DOID:8991"} xref: SCTID:269649008 {source="DOID:8991"} xref: SCTID:92564006 {source="DOID:8991"} xref: UMLS:C0851140 {source="DOID:8991", source="MONDO:equivalentTo", source="NCIT:C4000"} -is_a: MONDO:0004647 {source="DOID:8991", source="NCIT:C4000"} ! in situ carcinoma +is_a: MONDO:0004647 {source="DOID:8991", source="MESH:D018290", source="NCIT:C4000", source="linkedlifedata/inferred"} ! in situ carcinoma intersection_of: MONDO:0004647 ! in situ carcinoma intersection_of: disease_has_location UBERON:0000002 ! uterine cervix @@ -401541,12 +407282,12 @@ synonym: "Raillietiniasis" RELATED [MESH:D002590] synonym: "tapeworm infection" RELATED [MESH:D002590] synonym: "tapeworm infections" RELATED [MESH:D002590] xref: EFO:1001287 {source="MONDO:equivalentTo"} -xref: ICD9:123.8 {source="linkedlife"} -xref: ICD9:123.9 {source="linkedlife"} +xref: ICD9:123.8 {source="linkedlifedata"} +xref: ICD9:123.9 {source="linkedlifedata"} xref: MESH:D002590 {source="MONDO:equivalentTo"} xref: SCTID:86133004 {source="MONDO:equivalentTo"} -is_a: MONDO:0004664 {source="MESH:D002590", source="linkedlife"} ! helminthiasis -is_a: MONDO:0005135 {source="EFO:1001287", source="linkedlife"} ! parasitic infection +is_a: MONDO:0004664 {source="MESH:D002590", source="linkedlifedata"} ! helminthiasis +is_a: MONDO:0005135 {source="EFO:1001287", source="MESH:D002590/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! parasitic infection intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:6199 ! Cestoda @@ -401611,16 +407352,18 @@ subset: gard_rare synonym: "gastric non-Hodgkin lymphoma" EXACT [NCIT:C27235] synonym: "gastric non-Hodgkin's lymphoma" EXACT [NCIT:C27235] synonym: "lymphoma, gastric non Hodgkins type" RELATED [GARD:0000089] +synonym: "non-Hodgkin lymphoma of stomach" EXACT [MONDO:design_pattern] synonym: "non-Hodgkin's lymphoma of stomach" EXACT [NCIT:C27235] synonym: "non-Hodgkin's lymphoma of the stomach" EXACT [NCIT:C27235] synonym: "non-Hodgkins gastric lymphoma" RELATED [GARD:0000089] synonym: "primary gastric non-Hodgkin's lymphoma" EXACT [NCIT:C27235] synonym: "stomach lymphoma, non-Hodgkins type" RELATED [GARD:0000089] +synonym: "stomach non-Hodgkin lymphoma" EXACT [MONDO:design_pattern] xref: GARD:0000089 {source="MONDO:equivalentTo"} xref: NCIT:C27235 {source="MONDO:equivalentTo"} xref: SCTID:448709005 {source="MONDO:equivalentTo"} xref: UMLS:C1333784 {source="NCIT:C27235", source="MEDGEN:kboom-pr98-c99", source="GARD:0000089", source="MONDO:equivalentTo"} -is_a: MONDO:0001059 {source="NCIT:C27235"} ! gastric lymphoma +is_a: MONDO:0001059 {source="NCIT:C27235", source="linkedlifedata"} ! gastric lymphoma intersection_of: MONDO:0018908 ! non-Hodgkin lymphoma intersection_of: disease_has_location UBERON:0000945 ! stomach @@ -401644,17 +407387,19 @@ id: MONDO:0042495 name: arteriosclerotic retinopathy def: "A arteriosclerosis disorder that involves the retina." [MONDO:patterns/location] subset: gard_rare +synonym: "arteriosclerosis disorder of retina" EXACT [MONDO:design_pattern] synonym: "arteriosclerosis, retina" RELATED [GARD:0000113] synonym: "arteriosclerotic retinopathy" EXACT [] +synonym: "retina arteriosclerosis disorder" EXACT [MONDO:design_pattern] synonym: "retinal arteriosclerosis" RELATED [] synonym: "retinopathy, arteriosclerotic" RELATED [GARD:0000113] xref: GARD:0000113 {source="MONDO:equivalentTo"} -xref: ICD9:440.8 {source="linkedlife"} +xref: ICD9:440.8 {source="linkedlifedata"} xref: SCTID:95691008 {source="MONDO:equivalentTo"} xref: UMLS:C0339478 {source="MEDGEN:kboom-pr98-c99", source="GARD:0000113", source="MONDO:equivalentTo"} -is_a: MONDO:0002277 {source="linkedlife"} ! arteriosclerosis disorder -is_a: MONDO:0002311 {source="linkedlife"} ! retinal vascular disease -is_a: MONDO:0004884 {source="linkedlife"} ! eye degenerative disease +is_a: MONDO:0002277 {source="linkedlifedata"} ! arteriosclerosis disorder +is_a: MONDO:0002311 {source="linkedlifedata"} ! retinal vascular disease +is_a: MONDO:0004884 {source="linkedlifedata"} ! eye degenerative disease intersection_of: MONDO:0002277 ! arteriosclerosis disorder intersection_of: disease_has_location UBERON:0000966 ! retina @@ -401678,11 +407423,11 @@ synonym: "St. Anthony fire" RELATED [MESH:D004881] synonym: "St. Anthony's fire" RELATED [MESH:D004881] synonym: "St. Anthonys fire" RELATED [MESH:D004881] xref: GARD:0000196 {source="MONDO:equivalentTo"} -xref: ICD9:988.2 {source="SCTID:51510002"} +xref: ICD9:988.2 {source="linkedlifedata"} xref: MESH:D004881 {source="MONDO:equivalentTo"} xref: SCTID:51510002 {source="MONDO:equivalentTo"} xref: UMLS:C0014714 {source="GARD:0000196"} -is_a: MONDO:0042497 {source="MESH:D004881"} ! mycotoxicosis +is_a: MONDO:0042497 {source="MESH:D004881", source="linkedlifedata", source="linkedlifedata/inferred"} ! mycotoxicosis [Term] id: MONDO:0042497 @@ -401695,7 +407440,7 @@ synonym: "poisoning, fungus" RELATED [MESH:D015651] synonym: "Poisonings, fungus" RELATED [MESH:D015651] xref: MESH:D015651 {source="MONDO:equivalentTo"} xref: SCTID:26033009 {source="MONDO:equivalentTo"} -is_a: MONDO:0029000 {source="MESH:D015651"} ! poisoning +is_a: MONDO:0029000 {source="MESH:D015651", source="linkedlifedata", source="linkedlifedata/inferred"} ! poisoning intersection_of: MONDO:0029000 ! poisoning intersection_of: realized_in_response_to_stimulus NCBITaxon:4751 ! Fungi @@ -402008,7 +407753,7 @@ xref: MESH:D050805 {source="MONDO:equivalentTo"} xref: NCIT:C85224 {source="MONDO:equivalentTo"} xref: SCTID:191384005 {source="MONDO:equivalentTo"} xref: UMLS:C0272414 {source="GARD:0000328", source="NCIT:C85224", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002332 {source="MESH:D050805"} ! splenic disease +is_a: MONDO:0002332 {source="MESH:D050805", source="linkedlifedata"} ! splenic disease is_a: UMLS:C1709838 [Term] @@ -402016,10 +407761,10 @@ id: MONDO:0042964 name: Machado-Joseph disease type 4 def: "A subtype of Machado-Joseph disease characterized by Parkinsonian symptoms that respond particularly well to levodopa treatment." [https://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease] synonym: "azorean disease, type iv" EXACT [] -xref: ICD9:334.3 {source="linkedlife"} +xref: ICD9:334.3 {source="linkedlifedata"} xref: SCTID:91956006 {source="MONDO:equivalentTo"} xref: UMLS:C0686352 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0007182 {source="https://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease", source="linkedlife"} ! Machado-Joseph disease +is_a: MONDO:0007182 {source="https://en.wikipedia.org/wiki/Machado%E2%80%93Joseph_disease", source="linkedlifedata"} ! Machado-Joseph disease [Term] id: MONDO:0042965 @@ -402038,7 +407783,7 @@ synonym: "congenital anomaly of mitral valve" EXACT [] synonym: "congenital malformation of mitral valve" RELATED [] synonym: "congenital mitral valve abnormality" RELATED [] xref: SCTID:75372006 {source="MONDO:equivalentTo"} -is_a: MONDO:0003767 {source="linkedlife"} ! mitral valve disease +is_a: MONDO:0003767 {source="linkedlifedata"} ! mitral valve disease intersection_of: MONDO:0003767 ! mitral valve disease intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -402046,12 +407791,14 @@ intersection_of: has_modifier MONDO:0021152 ! genetic and inherited id: MONDO:0042967 name: rheumatic disease of mitral valve def: "A rheumatologic disorder that involves the mitral valve." [MONDO:patterns/location] +synonym: "mitral valve rheumatologic disorder" EXACT [MONDO:design_pattern] synonym: "rheumatic disease of mitral valve" EXACT [] synonym: "rheumatic mitral valve changes" RELATED [] synonym: "rheumatic mitral valve disease" RELATED [] +synonym: "rheumatologic disorder of mitral valve" EXACT [MONDO:design_pattern] xref: SCTID:83898004 {source="MONDO:equivalentTo"} xref: UMLS:C0264765 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003767 {source="linkedlife"} ! mitral valve disease +is_a: MONDO:0003767 {source="linkedlifedata"} ! mitral valve disease intersection_of: MONDO:0005554 ! rheumatologic disorder intersection_of: disease_has_location UBERON:0002135 ! mitral valve @@ -402079,14 +407826,17 @@ is_a: MONDO:0042968 ! partial duplication of chromosome 12 [Term] id: MONDO:0042970 name: disorder of glutamate decarboxylase +def: "A disease that has its basis in the disruption of glutamate decarboxylase activity." [MONDO:design_pattern] subset: gard_rare synonym: "deficiency of glutamate decarboxylase" EXACT [] synonym: "deficiency of glutamate decarboxylase" RELATED [GTR:AN0168165, SNOMEDCT_US:124596009] +synonym: "disorder of glutamate decarboxylase activity" EXACT [MONDO:design_pattern] +synonym: "glutamate decarboxylase activity disease" EXACT [MONDO:design_pattern] synonym: "glutamate decarboxylase deficiency" RELATED [GTR:AN0264281] xref: GARD:0002505 {source="MONDO:equivalentTo"} xref: GTR:AN0168165 {source="UMLS:C1291560"} xref: GTR:AN0264281 {source="UMLS:C1291560"} -xref: ICD9:277.6 {source="linkedlife"} +xref: ICD9:277.6 {source="linkedlifedata"} xref: MEDGEN:452941 {source="UMLS:C1291560"} xref: SCTID:124596009 {source="MONDO:equivalentTo", source="UMLS:C1291560"} xref: UMLS:C1291560 {source="GARD:0002505", source="MONDO:equivalentTo"} @@ -402115,7 +407865,7 @@ synonym: "meningococcal septicemia" RELATED [SNOMEDCT_US:4089001] synonym: "meningococcemia" EXACT [] synonym: "meningococcemia" RELATED [SNOMEDCT_US:4089001] xref: GARD:0003472 {source="MONDO:equivalentTo"} -xref: ICD9:036.2 {source="linkedlife"} +xref: ICD9:036.2 {source="linkedlifedata"} xref: MEDGEN:6300 {source="UMLS:C0025306"} xref: SCTID:4089001 {source="MONDO:equivalentTo", source="UMLS:C0025306"} xref: UMLS:C0025306 {source="GARD:0003472", source="MONDO:equivalentTo"} @@ -402143,7 +407893,7 @@ synonym: "infection due to human parainfluenza virus 3" EXACT [] synonym: "infection due to parainfluenza virus 3" RELATED [] synonym: "PIV3" RELATED [GARD:0004215] xref: GARD:0004215 {source="MONDO:equivalentTo"} -xref: ICD9:079.89 {source="linkedlife"} +xref: ICD9:079.89 {source="linkedlifedata"} xref: SCTID:30270006 {source="MONDO:equivalentTo"} xref: UMLS:C0276324 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000001 ! disease or disorder @@ -402174,7 +407924,7 @@ xref: MESH:D014804 {source="MONDO:equivalentTo"} xref: NCIT:C35129 {source="MONDO:equivalentTo"} xref: SCTID:47903000 {source="MONDO:equivalentTo"} xref: UMLS:C0042850 {source="MONDO:equivalentTo"} -is_a: MONDO:0024298 {source="MESH:D014804"} ! vitamin deficiency disorder +is_a: MONDO:0024298 {source="MESH:D014804", source="NCIT:C35129", source="linkedlifedata"} ! vitamin deficiency disorder [Term] id: MONDO:0042977 @@ -402221,7 +407971,7 @@ xref: MESH:C536694 {source="UMLS:C1279186", source="MONDO:equivalentTo"} xref: OMIM:143100 {source="GARD:0005557", source="MONDO:relatedTo"} xref: SCTID:182747006 {source="UMLS:C1279186", source="MONDO:equivalentTo"} xref: UMLS:C1279186 {source="GARD:0005557", source="MONDO:equivalentTo"} -is_a: MONDO:0000995 {source="linkedlife"} ! familial periodic paralysis +is_a: MONDO:0000995 {source="linkedlifedata"} ! familial periodic paralysis relationship: disease_shares_features_of MONDO:0007739 ! Huntington disease [Term] @@ -402276,7 +408026,7 @@ xref: MESH:D020752 {source="MONDO:equivalentTo"} xref: NCIT:C84348 {source="MONDO:equivalentTo"} xref: SCTID:78572006 {source="MONDO:equivalentTo"} xref: UMLS:C0265316 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005071 {source="MESH:D020752"} ! nervous system disorder +is_a: MONDO:0005071 {source="MESH:D020752", source="linkedlifedata/inferred"} ! nervous system disorder relationship: disease_arises_from_structure UBERON:0000924 ! ectoderm relationship: excluded_subClassOf MONDO:0019287 {source="MESH:D020752"} ! ectodermal dysplasia syndrome @@ -402310,7 +408060,7 @@ synonym: "weil's disease" EXACT [] synonym: "Weils disease" RELATED [MESH:D014895] xref: MESH:D014895 {source="MONDO:equivalentTo"} xref: SCTID:398067003 {source="MONDO:equivalentTo"} -is_a: MONDO:0005825 {source="MESH:D014895", source="linkedlife"} ! leptospirosis +is_a: MONDO:0005825 {source="MESH:D014895", source="linkedlifedata"} ! leptospirosis intersection_of: MONDO:0005825 ! leptospirosis intersection_of: disease_has_feature HP:0000952 ! Jaundice @@ -402433,7 +408183,7 @@ synonym: "acute rheumatic arthritis" EXACT [SCTID:81077008] synonym: "acute rheumatism" RELATED [GARD:0000518] xref: GARD:0000518 {source="MONDO:equivalentTo"} xref: SCTID:81077008 {source="MONDO:equivalentTo"} -is_a: MONDO:0005578 {source="MONDOLEX:0043079"} ! arthritis +is_a: MONDO:0005578 {source="MONDOLEX:0043079", source="linkedlifedata/inferred"} ! arthritis [Term] id: MONDO:0043083 @@ -402488,7 +408238,7 @@ synonym: "pigment epitheliopathy, disseminated retinitis and retinochoroiditis" xref: GARD:0002183 {source="MONDO:equivalentTo"} xref: SCTID:89188001 {source="MONDO:equivalentTo"} xref: UMLS:C0154884 {source="GARD:0002183", source="MONDO:equivalentTo"} -is_a: MONDO:0023833 ! multifocal choroiditis +is_a: MONDO:0023833 {source="linkedlifedata/inferred"} ! multifocal choroiditis [Term] id: MONDO:0043094 @@ -402499,7 +408249,7 @@ synonym: "follicular ichthyosis" RELATED [GARD:0002355] xref: GARD:0002355 {source="MONDO:equivalentTo"} xref: SCTID:238627002 {source="MONDO:equivalentTo"} xref: UMLS:C0406344 {source="GARD:0002355"} -is_a: MONDO:0015947 {source="SCTID:238627002"} ! inherited ichthyosis +is_a: MONDO:0015947 {source="linkedlifedata"} ! inherited ichthyosis [Term] id: MONDO:0043096 @@ -402513,7 +408263,7 @@ xref: GARD:0002720 {source="MONDO:equivalentTo"} xref: Orphanet:2161 {source="MONDO:equivalentTo"} xref: SCTID:41049003 {source="MONDO:equivalentTo"} xref: UMLS:C0266719 {source="GARD:0002720"} -is_a: MONDO:0022357 {source="SCTID:41049003"} ! congenital acardia +is_a: MONDO:0022357 {source="linkedlifedata"} ! congenital acardia [Term] id: MONDO:0043099 @@ -402537,7 +408287,7 @@ synonym: "hypothalamic syndrome" EXACT [SCTID:111568001] xref: GARD:0002932 {source="MONDO:equivalentTo"} xref: SCTID:111568001 {source="MONDO:equivalentTo"} xref: UMLS:C0751230 {source="GARD:0002932"} -is_a: MONDO:0002150 {source="SCTID:111568001"} ! hypothalamic disease +is_a: MONDO:0002150 {source="linkedlifedata"} ! hypothalamic disease [Term] id: MONDO:0043103 @@ -402555,7 +408305,7 @@ xref: GARD:0002938 {source="MONDO:equivalentTo"} xref: NCIT:C121747 {source="MONDO:equivalentTo"} xref: SCTID:22558005 {source="MONDO:equivalentTo"} xref: UMLS:C0271826 {source="GARD:0002938", source="MEDGEN:kboom-pr98-c99", source="NCIT:C121747", source="MONDO:equivalentTo"} -is_a: MONDO:0018612 {source="NCIT:C121747"} ! congenital hypothyroidism +is_a: MONDO:0018612 {source="NCIT:C121747", source="linkedlifedata"} ! congenital hypothyroidism [Term] id: MONDO:0043106 @@ -402565,8 +408315,8 @@ synonym: "ichthyosis linearis circumflexa" EXACT [SCTID:54336006] xref: GARD:0002967 {source="MONDO:equivalentTo"} xref: SCTID:54336006 {source="MONDO:equivalentTo"} xref: UMLS:C0265962 {source="GARD:0002967"} -is_a: MONDO:0006025 {source="SCTID:54336006"} ! autosomal recessive disease -is_a: MONDO:0015947 {source="SCTID:54336006"} ! inherited ichthyosis +is_a: MONDO:0006025 {source="linkedlifedata"} ! autosomal recessive disease +is_a: MONDO:0015947 {source="linkedlifedata"} ! inherited ichthyosis [Term] id: MONDO:0043108 @@ -402781,7 +408531,7 @@ synonym: "fetal ovarian cyst" RELATED [GARD:0003934, MESH:C536396] xref: GARD:0003934 {source="MONDO:equivalentTo"} xref: MESH:C536396 {source="MONDO:equivalentTo"} xref: UMLS:C2931186 {source="GARD:0003934", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003282 ! ovarian cyst (disease) +is_a: MONDO:0003282 {source="MESH:C536396"} ! ovarian cyst (disease) [Term] id: MONDO:0043156 @@ -402826,7 +408576,7 @@ synonym: "pancreatic lipomatosis and duodenal atresia" RELATED [GARD:0004208, ME xref: GARD:0004208 {source="MONDO:equivalentTo"} xref: MESH:C535839 {source="MONDO:equivalentTo"} xref: UMLS:C2931040 {source="GARD:0004208", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002356 ! pancreas disease +is_a: MONDO:0002356 {source="MESH:C535839"} ! pancreas disease is_a: MONDO:0002688 {source="MESH:C535839"} ! duodenal obstruction is_a: MONDO:0006574 {source="MESH:C535839"} ! lipomatosis @@ -402937,7 +408687,7 @@ synonym: "pulmonary artery agenesis" RELATED [SCTID:86252004] xref: GARD:0004585 {source="MONDO:equivalentTo"} xref: SCTID:86252004 {source="MONDO:equivalentTo"} xref: UMLS:C0265905 {source="GARD:0004585"} -is_a: MONDO:0000001 ! disease or disorder +is_a: MONDO:0000001 {source="linkedlifedata", source="linkedlifedata/inferred"} ! disease or disorder relationship: disease_has_location UBERON:0002012 ! pulmonary artery [Term] @@ -403027,8 +408777,8 @@ xref: GARD:0005428 {source="MONDO:equivalentTo"} xref: MESH:C536477 {source="MONDO:equivalentTo"} xref: SCTID:18241005 {source="MONDO:equivalentTo"} xref: UMLS:C0265363 {source="MEDGEN:kboom-pr98-c99", source="GARD:0005428", source="MONDO:equivalentTo"} -is_a: MONDO:0001556 {source="MESH:C536477", source="linkedlife"} ! urethral obstruction (disease) -is_a: MONDO:0018559 {source="linkedlife"} ! fetal lower urinary tract obstruction +is_a: MONDO:0001556 {source="MESH:C536477", source="linkedlifedata"} ! urethral obstruction (disease) +is_a: MONDO:0018559 {source="linkedlifedata"} ! fetal lower urinary tract obstruction [Term] id: MONDO:0043209 @@ -403044,7 +408794,7 @@ xref: NCIT:C84543 {source="MONDO:equivalentTo"} xref: SCTID:15890002 {source="MONDO:equivalentTo"} xref: UMLS:C0001916 {source="NCIT:C84543", source="MEDGEN:kboom-pr98-c99", source="GARD:0005768", source="MONDO:equivalentTo"} is_a: MONDO:0004736 {source="MESH:D000417"} ! inherited amino acid metabolic disorder -is_a: MONDO:0019052 {source="linkedlife"} ! inborn errors of metabolism +is_a: MONDO:0019052 {source="MESH:D000417/inferred", source="linkedlifedata"} ! inborn errors of metabolism relationship: excluded_subClassOf MONDO:0024255 {source="MESH:D000417"} ! genetic skin disease [Term] @@ -403052,7 +408802,9 @@ id: MONDO:0043218 name: neurovascular disease def: "A disorder of the nervous system related to a vascular etiology." [NCIT:C117007] synonym: "disease of nervous system vasculature" EXACT [] +synonym: "nervous system disorder of vasculature" EXACT [MONDO:design_pattern] synonym: "neurovascular disorder" EXACT [NCIT:C117007] +synonym: "vasculature nervous system disorder" EXACT [MONDO:design_pattern] xref: NCIT:C117007 {source="MONDO:equivalentTo"} xref: UMLS:C3898144 {source="NCIT:C117007", source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"} is_a: MONDO:0005071 {source="NCIT:C117007"} ! nervous system disorder @@ -403065,6 +408817,7 @@ name: migraine with brainstem aura def: "A migraine disorder characterized by episodes that are preceded by focal neurological symptoms originating in the brainstem." [NCIT:C117013] subset: gard_rare synonym: "basilar artery migraine" RELATED [GARD:0005896] +synonym: "basilar artery migraine with aura" EXACT [MONDO:design_pattern] synonym: "basilar migraine" EXACT [] synonym: "basilar migraine" RELATED [GARD:0005896] synonym: "basilar-type migraine" EXACT [NCIT:C117013] @@ -403073,6 +408826,7 @@ synonym: "Bickerstaff migraine" RELATED [GARD:0005896] synonym: "bickerstaff's migraine" RELATED [] synonym: "brainstem migraine" RELATED [GARD:0005896] synonym: "MBA" RELATED [GARD:0005896] +synonym: "migraine with aura of basilar artery" EXACT [MONDO:design_pattern] synonym: "vertebrobasilar migraine" RELATED [GARD:0005896] xref: GARD:0005896 {source="MONDO:equivalentTo"} xref: NCIT:C117013 {source="MONDO:equivalentTo"} @@ -403080,7 +408834,7 @@ xref: OMIM:602481 {source="MONDO:relatedTo", source="GARD:0005896"} xref: SCTID:83351003 {source="MONDO:equivalentTo"} xref: UMLS:C0270860 {source="NCIT:C117013", source="GARD:0005896"} is_a: MONDO:0005277 {source="NCIT:C117013"} ! migraine disorder -is_a: MONDO:0005475 {source="linkedlife"} ! migraine with aura +is_a: MONDO:0005475 {source="linkedlifedata"} ! migraine with aura intersection_of: MONDO:0005475 ! migraine with aura intersection_of: disease_has_location UBERON:0001633 ! basilar artery @@ -403117,8 +408871,8 @@ xref: MESH:D015161 {source="MONDO:equivalentTo"} xref: NCIT:C34522 {source="MONDO:equivalentTo"} xref: SCTID:56267009 {source="MONDO:equivalentTo"} xref: UMLS:C0011263 {source="NCIT:C34522"} -is_a: MONDO:0002679 {source="MESH:D015161", source="linkedlife"} ! cerebral infarction -is_a: MONDO:0004648 {source="MESH:D015161", source="MONDOLEX:0043224", source="NCIT:C34522", source="linkedlife"} ! vascular dementia +is_a: MONDO:0002679 {source="MESH:D015161", source="linkedlifedata"} ! cerebral infarction +is_a: MONDO:0004648 {source="MESH:D015161", source="MONDOLEX:0043224", source="NCIT:C34522", source="linkedlifedata"} ! vascular dementia [Term] id: MONDO:0043226 @@ -403139,11 +408893,11 @@ xref: GARD:0006037 {source="MONDO:equivalentTo"} xref: MESH:D002640 {source="MONDO:equivalentTo"} xref: SCTID:85039006 {source="MONDO:equivalentTo"} xref: UMLS:C0008043 {source="GARD:0006037"} -is_a: MONDO:0002657 {source="linkedlife"} ! breast disease -is_a: MONDO:0005804 {source="linkedlife"} ! hyperprolactinemia (disease) +is_a: MONDO:0002657 {source="MESH:D002640/inferred", source="linkedlifedata"} ! breast disease +is_a: MONDO:0005804 {source="linkedlifedata"} ! hyperprolactinemia (disease) is_a: MONDO:0009256 {source="MESH:D002640"} ! galactorrhea (disease) -is_a: MONDO:0024575 ! pregnancy disorder -is_a: MONDO:0044013 ! puerperal disorder +is_a: MONDO:0024575 {source="MESH:D002640/inferred"} ! pregnancy disorder +is_a: MONDO:0044013 {source="MESH:D002640/inferred", source="linkedlifedata/inferred"} ! puerperal disorder [Term] id: MONDO:0043230 @@ -403165,7 +408919,7 @@ xref: GARD:0006113 {source="MONDO:equivalentTo"} xref: MESH:D036841 {source="MONDO:equivalentTo"} xref: SCTID:241774007 {source="MONDO:equivalentTo"} xref: UMLS:C0008775 {source="GARD:0006113"} -is_a: MONDO:0029000 {source="linkedlife"} ! poisoning +is_a: MONDO:0029000 {source="MESH:D036841/inferred", source="linkedlifedata"} ! poisoning [Term] id: MONDO:0043233 @@ -403202,8 +408956,8 @@ xref: GARD:0006518 {source="MONDO:equivalentTo"} xref: MESH:D005926 {source="MONDO:equivalentTo"} xref: SCTID:30731004 {source="MONDO:equivalentTo"} xref: UMLS:C0017672 {source="GARD:0006518"} -is_a: MONDO:0001165 {source="MESH:D005926", source="linkedlife"} ! tongue disease -is_a: MONDO:0021668 {source="linkedlife"} ! disorder involving pain +is_a: MONDO:0001165 {source="MESH:D005926", source="linkedlifedata"} ! tongue disease +is_a: MONDO:0021668 {source="linkedlifedata"} ! disorder involving pain [Term] id: MONDO:0043240 @@ -403350,8 +409104,8 @@ xref: http://identifiers.org/hgnc/3048 {source="GARD:0007353"} xref: MESH:C535551 {source="MONDO:equivalentTo"} xref: SCTID:46459009 {source="MONDO:equivalentTo"} xref: UMLS:C0263314 {source="MEDGEN:kboom-pr98-c99", source="GARD:0007353", source="MONDO:equivalentTo"} -is_a: MONDO:0006594 {source="MESH:C535551"} ! pemphigus -is_a: MONDO:0019324 {source="linkedlife"} ! pemphigus foliaceus +is_a: MONDO:0006594 {source="MESH:C535551", source="linkedlifedata/inferred"} ! pemphigus +is_a: MONDO:0019324 {source="linkedlifedata"} ! pemphigus foliaceus [Term] id: MONDO:0043264 @@ -403401,7 +409155,7 @@ xref: MESH:D004834 {source="MONDO:equivalentTo"} xref: SCTID:75023009 {source="MONDO:equivalentTo"} xref: UMLS:C0014557 {source="GARD:0007437"} xref: UMLS:C0751126 {source="MONDO:equivalentTo"} -is_a: MONDO:0005027 {source="MESH:D004834", source="linkedlife"} ! epilepsy +is_a: MONDO:0005027 {source="MESH:D004834", source="linkedlifedata"} ! epilepsy [Term] id: MONDO:0043267 @@ -403416,8 +409170,8 @@ xref: GARD:0007577 {source="MONDO:equivalentTo"} xref: MESH:D056653 {source="MONDO:equivalentTo"} xref: SCTID:400054000 {source="MONDO:equivalentTo"} xref: UMLS:C0240903 {source="MEDGEN:kboom-pr98-c99", source="GARD:0007577", source="MONDO:equivalentTo"} -is_a: MONDO:0008383 {source="MESH:D056653"} ! rheumatoid arthritis -is_a: MONDO:0030703 {source="linkedlife"} ! autoimmune vasculitis +is_a: MONDO:0008383 {source="MESH:D056653", source="linkedlifedata/inferred"} ! rheumatoid arthritis +is_a: MONDO:0030703 {source="linkedlifedata"} ! autoimmune vasculitis [Term] id: MONDO:0043275 @@ -403482,7 +409236,7 @@ xref: GARD:0008372 {source="MONDO:equivalentTo"} xref: MESH:C537337 {source="MONDO:equivalentTo"} xref: SCTID:34004002 {source="MONDO:equivalentTo"} xref: UMLS:C0018929 {source="GARD:0008372", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005960 {source="MESH:C537337", source="MONDOLEX:0043283"} ! silicosis +is_a: MONDO:0005960 {source="MESH:C537337", source="MONDOLEX:0043283", source="linkedlifedata"} ! silicosis intersection_of: MONDO:0015926 ! pneumoconiosis intersection_of: realized_in_response_to_stimulus CHEBI:50818 ! hematite @@ -403504,7 +409258,7 @@ xref: NCIT:C3396 {source="MONDO:equivalentTo"} xref: SCTID:63363004 {source="MONDO:equivalentTo"} xref: UMLS:C0038833 {source="GARD:0009264", source="NCIT:C3396"} is_a: MONDO:0002254 {source="MONDOLEX:0043287", source="NCIT:C3396"} ! syndromic disease -is_a: MONDO:0005385 {source="MESH:D013479"} ! vascular disease +is_a: MONDO:0005385 {source="MESH:D013479", source="linkedlifedata/inferred"} ! vascular disease [Term] id: MONDO:0043291 @@ -403518,7 +409272,7 @@ xref: MESH:C535869 {source="MONDO:equivalentTo"} xref: SCTID:22149007 {source="MONDO:equivalentTo"} xref: UMLS:C0267892 {source="GARD:0009419", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0004647 {source="MESH:C535869"} ! in situ carcinoma -is_a: MONDO:0004868 {source="linkedlife"} ! biliary tract disease +is_a: MONDO:0004868 {source="MESH:C535869/inferred", source="linkedlifedata"} ! biliary tract disease relationship: disease_has_location UBERON:0002110 ! gall bladder [Term] @@ -403535,7 +409289,7 @@ xref: GARD:0009513 {source="MONDO:equivalentTo"} xref: NCIT:C116780 {source="MONDO:equivalentTo"} xref: SCTID:22784002 {source="MONDO:equivalentTo"} xref: UMLS:C0263409 {source="NCIT:C116780", source="GARD:0009513"} -is_a: MONDO:0019562 {source="MONDOLEX:0043294", source="NCIT:C116780", source="linkedlife"} ! localized scleroderma +is_a: MONDO:0019562 {source="MONDOLEX:0043294", source="NCIT:C116780", source="linkedlifedata"} ! localized scleroderma [Term] id: MONDO:0043297 @@ -403561,7 +409315,7 @@ xref: GARD:0009619 {source="MONDO:equivalentTo"} xref: MESH:C535669 {source="MONDO:equivalentTo"} xref: SCTID:46795000 {source="MONDO:equivalentTo"} xref: UMLS:C0267026 {source="GARD:0009619", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002102 {source="MESH:C535669", source="linkedlife"} ! cheilitis +is_a: MONDO:0002102 {source="MESH:C535669", source="linkedlifedata"} ! cheilitis [Term] id: MONDO:0043303 @@ -403595,8 +409349,8 @@ xref: MESH:D012001 {source="MONDO:equivalentTo"} xref: NCIT:C116366 {source="MONDO:equivalentTo"} xref: SCTID:25289003 {source="MONDO:equivalentTo"} xref: UMLS:C0034880 {source="NCIT:C116366"} -is_a: MONDO:0021205 {source="linkedlife"} ! disease of ear -is_a: MONDO:0021945 {source="MESH:D012001"} ! hearing disorder +is_a: MONDO:0021205 {source="NCIT:C116366/inferred", source="linkedlifedata"} ! disease of ear +is_a: MONDO:0021945 {source="MESH:D012001", source="NCIT:C116366/inferred", source="linkedlifedata/inferred"} ! hearing disorder is_a: MONDO:0024422 {source="NCIT:C116366"} ! auditory perceptual disorders [Term] @@ -403616,7 +409370,7 @@ xref: MESH:D020757 {source="MONDO:equivalentTo"} xref: NCIT:C84550 {source="MONDO:equivalentTo"} xref: SCTID:88032003 {source="MONDO:equivalentTo"} xref: UMLS:C0149793 {source="NCIT:C84550", source="GARD:0009660"} -is_a: MONDO:0001941 {source="MESH:D020757"} ! blindness (disorder) +is_a: MONDO:0001941 {source="MESH:D020757", source="linkedlifedata/inferred"} ! blindness (disorder) relationship: disease_arises_from_feature MONDO:0001538 ! retinal ischemia [Term] @@ -403651,7 +409405,7 @@ xref: MESH:C538250 {source="MONDO:equivalentTo"} xref: Orphanet:221 {source="GARD:0009907", source="MONDO:subClassOf"} xref: SCTID:238935002 {source="MONDO:equivalentTo"} xref: UMLS:C0406645 {source="GARD:0009907", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0016367 {source="MESH:C538250", source="MONDOLEX:0043317", source="linkedlife"} ! dermatomyositis +is_a: MONDO:0016367 {source="MESH:C538250", source="MONDOLEX:0043317", source="linkedlifedata"} ! dermatomyositis [Term] id: MONDO:0043320 @@ -403682,8 +409436,8 @@ xref: SCTID:129179000 {source="MONDO:equivalentTo"} xref: UMLS:C0458224 {source="NCIT:C85012", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0043320", source="NCIT:C85012"} ! syndromic disease is_a: MONDO:0003615 {source="MESH:D055958"} ! nerve compression syndrome -is_a: MONDO:0006960 {source="MESH:D055958"} ! sciatic neuropathy -is_a: MONDO:0024333 {source="MONDOLEX:0043320", source="linkedlife"} ! sciatica +is_a: MONDO:0006960 {source="MESH:D055958", source="linkedlifedata/inferred"} ! sciatic neuropathy +is_a: MONDO:0024333 {source="MONDOLEX:0043320", source="linkedlifedata"} ! sciatica relationship: disease_has_feature MONDO:0021667 {source="MESH:D055958"} ! neuralgia [Term] @@ -403734,8 +409488,8 @@ synonym: "spinal CSF leak" RELATED [GARD:0010166] xref: GARD:0010166 {source="MONDO:equivalentTo"} xref: MESH:D065634 {source="MONDO:equivalentTo"} xref: SCTID:230744007 {source="MONDO:equivalentTo"} -is_a: MONDO:0000001 ! disease or disorder -is_a: MONDO:0002602 ! central nervous system disease +is_a: MONDO:0000001 {source="linkedlifedata/inferred"} ! disease or disorder +is_a: MONDO:0002602 {source="linkedlifedata/inferred"} ! central nervous system disease relationship: disease_has_location UBERON:0001359 ! cerebrospinal fluid [Term] @@ -403755,8 +409509,8 @@ xref: GARD:0010177 {source="MONDO:equivalentTo"} xref: MESH:D057792 {source="MONDO:equivalentTo"} xref: SCTID:4283007 {source="MONDO:equivalentTo"} xref: UMLS:C0267878 {source="GARD:0010177", source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001751 {source="MESH:D057792"} ! cholestasis -is_a: MONDO:0006757 {source="linkedlife"} ! extrahepatic cholestasis +is_a: MONDO:0001751 {source="MESH:D057792", source="linkedlifedata/inferred"} ! cholestasis +is_a: MONDO:0006757 {source="linkedlifedata"} ! extrahepatic cholestasis [Term] id: MONDO:0043339 @@ -403772,7 +409526,7 @@ xref: GARD:0010441 {source="MONDO:equivalentTo"} xref: MESH:D007842 {source="MONDO:equivalentTo"} xref: SCTID:5724005 {source="MONDO:equivalentTo"} xref: UMLS:C0023119 {source="GARD:0010441"} -is_a: MONDO:0029000 ! poisoning +is_a: MONDO:0029000 {source="MESH:D007842/inferred", source="linkedlifedata/inferred"} ! poisoning [Term] id: MONDO:0043343 @@ -403795,7 +409549,7 @@ xref: GARD:0010685 {source="MONDO:equivalentTo"} xref: MESH:D059269 {source="MONDO:equivalentTo"} xref: SCTID:14911005 {source="MONDO:equivalentTo"} xref: UMLS:C0267494 {source="GARD:0010685"} -is_a: MONDO:0003409 {source="MESH:D059269", source="linkedlife"} ! colonic disease +is_a: MONDO:0003409 {source="MESH:D059269", source="linkedlifedata"} ! colonic disease [Term] id: MONDO:0043346 @@ -403851,8 +409605,8 @@ xref: GARD:0010912 {source="MONDO:equivalentTo"} xref: MESH:D018934 {source="MONDO:equivalentTo"} xref: SCTID:398318005 {source="MONDO:equivalentTo"} xref: UMLS:C0238419 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003150 {source="MESH:D018934"} ! male reproductive system disease -is_a: MONDO:0005113 {source="MESH:D018934"} ! bacterial infectious disease +is_a: MONDO:0003150 {source="MESH:D018934", source="linkedlifedata/inferred"} ! male reproductive system disease +is_a: MONDO:0005113 {source="MESH:D018934", source="linkedlifedata/inferred"} ! bacterial infectious disease [Term] id: MONDO:0043355 @@ -403917,8 +409671,8 @@ xref: MESH:C564893 {source="MONDO:equivalentTo"} xref: OMIM:261500 {source="GARD:0012361"} xref: SCTID:711160007 {source="MONDO:equivalentTo"} xref: UMLS:C1850000 {source="MONDO:equivalentTo"} -is_a: MONDO:0004805 {source="MESH:C564893"} ! leukocyte disease -is_a: MONDO:0006025 {source="linkedlife"} ! autosomal recessive disease +is_a: MONDO:0004805 {source="MESH:C564893", source="linkedlifedata/inferred"} ! leukocyte disease +is_a: MONDO:0006025 {source="linkedlifedata"} ! autosomal recessive disease [Term] id: MONDO:0043370 @@ -403937,7 +409691,7 @@ xref: NCIT:C62602 {source="MONDO:equivalentTo"} xref: SCTID:16685009 {source="MONDO:equivalentTo"} xref: UMLS:C0271738 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} xref: UMLS:C0948387 {source="MEDGEN:kboom-pr98-c98", source="NCIT:C62602", source="MONDO:equivalentTo"} -is_a: MONDO:0000004 {source="NCIT:C62602", source="linkedlife"} ! adrenocortical insufficiency +is_a: MONDO:0000004 {source="NCIT:C62602", source="linkedlifedata"} ! adrenocortical insufficiency [Term] id: MONDO:0043373 @@ -403956,7 +409710,7 @@ xref: Orphanet:90059 {source="GARD:0012927"} xref: SCTID:715239002 {source="MONDO:equivalentTo"} xref: SCTID:79471008 {source="MONDO:equivalentTo"} xref: UMLS:C4275242 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005365 {source="MESH:D003639", source="linkedlife"} ! hearing loss +is_a: MONDO:0005365 {source="MESH:D003639", source="linkedlifedata", source="linkedlifedata/inferred"} ! hearing loss [Term] id: MONDO:0043377 @@ -403972,7 +409726,7 @@ xref: SCTID:239796000 {source="GARD:0012939"} xref: SCTID:239806000 {source="MONDO:equivalentTo"} xref: UMLS:C0409676 {source="NCIT:C114347", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0005095 {source="NCIT:C114347"} ! spondyloarthropathy -is_a: MONDO:0005306 {source="linkedlife"} ! ankylosing spondylitis +is_a: MONDO:0005306 {source="linkedlifedata"} ! ankylosing spondylitis [Term] id: MONDO:0043424 @@ -404016,7 +409770,7 @@ xref: MESH:C562390 {source="MONDO:equivalentTo"} xref: NCIT:C3496 {source="MONDO:equivalentTo"} xref: SCTID:47709007 {source="MONDO:equivalentTo"} xref: UMLS:C0149911 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C3496", source="MONDO:equivalentTo"} -is_a: MONDO:0001566 {source="MESH:C562390", source="NCIT:C3496", source="linkedlife"} ! hypercalcemia disease +is_a: MONDO:0001566 {source="MESH:C562390", source="NCIT:C3496", source="linkedlifedata"} ! hypercalcemia disease is_a: MONDO:0021073 {source="MESH:C562390"} ! paraneoplastic syndrome [Term] @@ -404072,7 +409826,7 @@ xref: MESH:D000126 {source="MONDO:equivalentTo"} xref: NCIT:C2850 {source="MONDO:equivalentTo"} xref: SCTID:47481007 {source="MONDO:equivalentTo"} xref: UMLS:C0001075 {source="NCIT:C2850"} -is_a: MONDO:0004298 {source="MESH:D000126"} ! stomach disease +is_a: MONDO:0004298 {source="MESH:D000126", source="NCIT:C2850/inferred", source="linkedlifedata/inferred"} ! stomach disease [Term] id: MONDO:0043468 @@ -404132,7 +409886,7 @@ xref: MESH:D000182 {source="MONDO:equivalentTo"} xref: NCIT:C4387 {source="MONDO:equivalentTo"} xref: SCTID:626004 {source="MONDO:equivalentTo"} xref: UMLS:C0001231 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4387", source="MONDO:equivalentTo"} -is_a: MONDO:0021058 ! neoplastic syndrome +is_a: MONDO:0021058 {source="NCIT:C4387/inferred"} ! neoplastic syndrome relationship: disease_disrupts GO:0051458 ! corticotropin secretion relationship: disease_has_location UBERON:0002369 ! adrenal gland @@ -404180,7 +409934,7 @@ xref: MESH:D000257 {source="MONDO:equivalentTo"} xref: NCIT:C115149 {source="MONDO:equivalentTo"} xref: SCTID:25225006 {source="MONDO:equivalentTo"} xref: UMLS:C0001486 {source="NCIT:C115149", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005108 {source="MONDOLEX:0043479", source="NCIT:C115149", source="linkedlife"} ! viral infectious disease +is_a: MONDO:0005108 {source="MESH:D000257/inferred", source="MONDOLEX:0043479", source="NCIT:C115149", source="linkedlifedata"} ! viral infectious disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:10508 ! Adenoviridae @@ -404199,8 +409953,8 @@ xref: MESH:D001167 {source="MONDO:equivalentTo"} xref: NCIT:C34399 {source="MONDO:equivalentTo"} xref: SCTID:52089001 {source="MONDO:equivalentTo"} xref: UMLS:C0003860 {source="NCIT:C34399"} -is_a: MONDO:0000473 {source="NCIT:C34399", source="linkedlife"} ! arterial disorder -is_a: MONDO:0018882 {source="MESH:D001167", source="NCIT:C34399"} ! vasculitis +is_a: MONDO:0000473 {source="NCIT:C34399", source="linkedlifedata"} ! arterial disorder +is_a: MONDO:0018882 {source="EFO:0009011", source="MESH:D001167", source="NCIT:C34399", source="linkedlifedata"} ! vasculitis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0001637 ! artery @@ -404227,7 +409981,7 @@ xref: EFO:1001277 {source="MONDO:equivalentTo"} xref: NCIT:C35542 {source="MONDO:equivalentTo"} xref: SCTID:230282000 {source="MONDO:equivalentTo"} xref: UMLS:C0876926 {source="NCIT:C35542"} -is_a: MONDO:0005560 ! brain disease +is_a: MONDO:0005560 {source="NCIT:C35542", source="linkedlifedata/inferred"} ! brain disease relationship: disease_arises_from_feature MONDO:0043510 ! brain injury [Term] @@ -404256,7 +410010,7 @@ synonym: "poisoning, cadmium" RELATED [MESH:D002105] synonym: "Poisonings, cadmium" RELATED [MESH:D002105] xref: MESH:D002105 {source="MONDO:equivalentTo"} xref: SCTID:3398004 {source="MONDO:equivalentTo"} -is_a: MONDO:0029000 {source="MESH:D002105", source="linkedlife"} ! poisoning +is_a: MONDO:0029000 {source="MESH:D002105", source="linkedlifedata", source="linkedlifedata/inferred"} ! poisoning intersection_of: MONDO:0029000 ! poisoning intersection_of: realized_in_response_to ECTO:0001566 ! exposure to cadmium @@ -404272,7 +410026,7 @@ xref: EFO:1001775 {source="MONDO:equivalentTo"} xref: MESH:D002275 {source="MONDO:equivalentTo"} xref: SCTID:36222008 {source="MONDO:equivalentTo"} xref: UMLS:C0007093 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005267 {source="MESH:D002275"} ! heart disease +is_a: MONDO:0005267 {source="MESH:D002275", source="linkedlifedata/inferred"} ! heart disease relationship: disease_arises_from_feature MONDO:0005369 ! carcinoid tumor (disease) [Term] @@ -404335,8 +410089,8 @@ xref: MESH:D003027 {source="MONDO:equivalentTo"} xref: NCIT:C117077 {source="MONDO:equivalentTo"} xref: SCTID:193031009 {source="MONDO:equivalentTo"} xref: UMLS:C0009088 {source="NCIT:C117077"} -is_a: MONDO:0005560 {source="linkedlife"} ! brain disease -is_a: MONDO:0015530 {source="MESH:D003027", source="NCIT:C117077", source="linkedlife"} ! trigeminal autonomic cephalalgia +is_a: MONDO:0005560 {source="MESH:D003027/inferred", source="linkedlifedata"} ! brain disease +is_a: MONDO:0015530 {source="MESH:D003027", source="NCIT:C117077", source="linkedlifedata"} ! trigeminal autonomic cephalalgia [Term] id: MONDO:0043541 @@ -404350,7 +410104,7 @@ xref: MESH:D003236 {source="MONDO:equivalentTo"} xref: NCIT:C34509 {source="MONDO:equivalentTo"} xref: SCTID:45261009 {source="MONDO:equivalentTo"} xref: UMLS:C0009774 {source="NCIT:C34509", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0003799 {source="MESH:D003236"} ! conjunctivitis (disease) +is_a: MONDO:0003799 {source="MESH:D003236", source="NCIT:C34509/inferred", source="linkedlifedata/inferred"} ! conjunctivitis (disease) intersection_of: MONDO:0003799 ! conjunctivitis (disease) intersection_of: realized_in_response_to_stimulus NCBITaxon:10239 ! Viruses @@ -404367,11 +410121,11 @@ synonym: "hospital-acquired condition" RELATED [MESH:D007049] synonym: "hospital-acquired conditions" RELATED [MESH:D007049] synonym: "iatrogenic diseases" RELATED [MESH:D007049] synonym: "iatrogenic disorder" EXACT [] -xref: ICD9:799.9 {source="linkedlife"} +xref: ICD9:799.9 {source="linkedlifedata"} xref: MESH:D007049 {source="MONDO:equivalentTo"} xref: SCTID:12456005 {source="MONDO:equivalentTo"} xref: UMLS:C0020732 {source="MONDO:equivalentTo", source="MEDGEN:kboom-pr95-c98"} -is_a: MONDO:0000001 ! disease or disorder +is_a: MONDO:0000001 {source="linkedlifedata/inferred"} ! disease or disorder [Term] id: MONDO:0043544 @@ -404407,7 +410161,7 @@ xref: MESH:D003428 {source="MONDO:equivalentTo"} xref: NCIT:C115164 {source="MONDO:equivalentTo"} xref: SCTID:19168005 {source="MONDO:equivalentTo"} xref: UMLS:C0205721 {source="MONDO:equivalentTo", source="NCIT:C115164"} -is_a: MONDO:0005550 {source="NCIT:C115164"} ! infectious disease +is_a: MONDO:0005550 {source="NCIT:C115164", source="linkedlifedata/inferred"} ! infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: MONDO:0043543 ! iatrogenic disease @@ -404428,21 +410182,25 @@ synonym: "syndrome, crush" RELATED [MESH:D003444] synonym: "syndromes, crush" RELATED [MESH:D003444] xref: MESH:D003444 {source="MONDO:equivalentTo"} xref: SCTID:23697004 {source="MONDO:equivalentTo"} -is_a: MONDO:0005240 ! kidney disease +is_a: MONDO:0005240 {source="linkedlifedata/inferred"} ! kidney disease relationship: disease_arises_from_feature MONDO:0021178 ! injury [Term] id: MONDO:0043555 name: infantile diarrhea def: "Diarrhea occurring in infants from newborn to 24-months old." [MESH:D003968] +synonym: "diarrheal disease of infancy" EXACT [MONDO:design_pattern] synonym: "Diarrheas, infantile" RELATED [MESH:D003968] synonym: "infantile diarrhea" RELATED [MESH:D003968] +synonym: "infantile diarrheal disease" EXACT [MONDO:design_pattern] synonym: "infantile Diarrheas" RELATED [MESH:D003968] +synonym: "infantile onset diarrheal disease" EXACT [MONDO:design_pattern] synonym: "toddler diarrhea" EXACT [] xref: MESH:D003968 {source="MONDO:equivalentTo"} xref: SCTID:39963006 {source="MONDO:equivalentTo"} xref: UMLS:C0473132 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001673 {source="MESH:D003968"} ! diarrheal disease +is_a: MONDO:0001673 {source="MESH:D003968", source="linkedlifedata/inferred"} ! diarrheal disease +is_a: MONDO:0045031 {source="linkedlifedata"} ! infectious diarrheal disease intersection_of: MONDO:0001673 ! diarrheal disease intersection_of: has_modifier HP:0003593 ! Infantile onset @@ -404475,8 +410233,8 @@ xref: NCIT:C26765 {source="MONDO:equivalentTo"} xref: SCTID:64613007 {source="MONDO:equivalentTo"} xref: UMLS:C0014335 {source="NCIT:C26765", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002269 {source="MESH:D004751"} ! gastroenteritis -is_a: MONDO:0005020 {source="MESH:D004751"} ! intestinal disease -is_a: MONDO:0024635 {source="MONDOLEX:0043579", source="linkedlife"} ! small intestine disease +is_a: MONDO:0005020 {source="MESH:D004751", source="NCIT:C26765/inferred", source="linkedlifedata/inferred"} ! intestinal disease +is_a: MONDO:0024635 {source="MONDOLEX:0043579", source="linkedlifedata"} ! small intestine disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0002108 ! small intestine @@ -404484,16 +410242,18 @@ intersection_of: disease_has_inflammation_site UBERON:0002108 ! small intestine id: MONDO:0043589 name: femoral neck fracture def: "Fractures of the short, constricted portion of the thigh bone between the femur head and the trochanters. It excludes intertrochanteric fractures which are HIP FRACTURES." [MESH:D005265] +synonym: "bone fracture of neck of femur" EXACT [MONDO:design_pattern] synonym: "femoral neck fracture" RELATED [MESH:D005265] synonym: "femur neck fracture" RELATED [MESH:D005265] synonym: "femur neck fractures" RELATED [MESH:D005265] synonym: "fracture of hip" RELATED [] synonym: "fracture of neck of femur" EXACT [] +synonym: "neck of femur bone fracture" EXACT [MONDO:design_pattern] synonym: "nof - fracture of neck of femur" RELATED [] xref: EFO:1001793 {source="MONDO:equivalentTo"} xref: MESH:D005265 {source="MONDO:equivalentTo"} xref: SCTID:5913000 {source="MONDO:equivalentTo"} -is_a: MONDO:0005327 {source="MESH:D005265", source="linkedlife"} ! hip fracture +is_a: MONDO:0005327 {source="MESH:D005265", source="linkedlifedata"} ! hip fracture intersection_of: MONDO:0005315 ! bone fracture intersection_of: disease_has_location UBERON:0007119 ! neck of femur @@ -404518,7 +410278,7 @@ xref: EFO:0008574 {source="MONDO:equivalentTo"} xref: NCIT:C3047 {source="MONDO:equivalentTo"} xref: SCTID:268029009 {source="MONDO:equivalentTo"} xref: UMLS:C0016663 {source="NCIT:C3047"} -is_a: MONDO:0005315 {source="MESH:D005598", source="NCIT:C3047", source="linkedlife"} ! bone fracture +is_a: MONDO:0005315 {source="MESH:D005598", source="NCIT:C3047", source="linkedlifedata"} ! bone fracture [Term] id: MONDO:0043653 @@ -404545,9 +410305,9 @@ xref: MESH:D006560 {source="MONDO:equivalentTo"} xref: NCIT:C34695 {source="MONDO:equivalentTo"} xref: SCTID:1475003 {source="MONDO:equivalentTo"} xref: UMLS:C0019345 {source="NCIT:C34695", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004609 {source="MESH:D006560"} ! herpes simplex infectious disease -is_a: MONDO:0004748 {source="MESH:D006560"} ! lip disease -is_a: MONDO:0005108 {source="NCIT:C34695"} ! viral infectious disease +is_a: MONDO:0004609 {source="MESH:D006560", source="linkedlifedata/inferred"} ! herpes simplex infectious disease +is_a: MONDO:0004748 {source="MESH:D006560", source="linkedlifedata/inferred"} ! lip disease +is_a: MONDO:0005108 {source="EFO:1001347/inferred", source="MESH:D006560/inferred", source="NCIT:C34695", source="linkedlifedata/inferred"} ! viral infectious disease intersection_of: MONDO:0004609 ! herpes simplex infectious disease intersection_of: disease_has_location UBERON:0001833 ! lip @@ -404587,7 +410347,7 @@ xref: NCIT:C34773 {source="MONDO:equivalentTo"} xref: SCTID:307816004 {source="MONDO:equivalentTo"} xref: UMLS:C0023370 {source="NCIT:C34773", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0043683", source="NCIT:C34773"} ! syndromic disease -is_a: MONDO:0005561 {source="MESH:D007925"} ! aortic disease +is_a: MONDO:0005561 {source="MESH:D007925", source="linkedlifedata/inferred"} ! aortic disease [Term] id: MONDO:0043693 @@ -404603,14 +410363,17 @@ xref: MESH:D008108 {source="MONDO:equivalentTo"} xref: NCIT:C34783 {source="MONDO:equivalentTo"} xref: SCTID:41309000 {source="MONDO:equivalentTo"} xref: UMLS:C0023896 {source="NCIT:C34783"} -is_a: MONDO:0005154 {source="MESH:D008108"} ! liver disease -is_a: MONDO:0021699 {source="MESH:D008108", source="linkedlife"} ! alcohol-induced disorders +is_a: MONDO:0005154 {source="EFO:0008573", source="MESH:D008108", source="NCIT:C34783/inferred", source="linkedlifedata/inferred"} ! liver disease +is_a: MONDO:0021699 {source="MESH:D008108", source="linkedlifedata"} ! alcohol-induced disorders +intersection_of: MONDO:0005154 ! liver disease +intersection_of: realized_in_response_to ECTO:0001082 ! alcohol consumption related exposure relationship: disease_has_location UBERON:0002107 ! liver [Term] id: MONDO:0043707 name: mediastinal diseases def: "A non-neoplastic or neoplastic disorder that affects the structures of the mediastinum. Representative examples include mediastinitis, mediastinal lipoma, mediastinal schwannoma, thymoma, and mediastinal lymphoma." [NCIT:C26826] +synonym: "disease of mediastinum" EXACT [MONDO:design_pattern] synonym: "disease, mediastinal" RELATED [MESH:D008477] synonym: "diseases, mediastinal" RELATED [MESH:D008477] synonym: "disorder of mediastinum" EXACT [] @@ -404618,12 +410381,14 @@ synonym: "mediastinal disease" EXACT [NCIT:C26826] synonym: "mediastinal disease" RELATED [MESH:D008477] synonym: "mediastinal disorder" EXACT [NCIT:C26826] synonym: "mediastinal disorder" RELATED [] +synonym: "mediastinum disease" EXACT [MONDO:design_pattern] +synonym: "mediastinum disease or disorder" EXACT [MONDO:design_pattern] xref: MESH:D008477 {source="MONDO:equivalentTo"} xref: NCIT:C26826 {source="MONDO:equivalentTo"} xref: SCTID:49483002 {source="MONDO:equivalentTo"} xref: UMLS:C0025061 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C26826", source="MONDO:equivalentTo"} -is_a: MONDO:0000651 {source="MESH:D008477", source="NCIT:C26826", source="linkedlife"} ! thoracic disease -is_a: MONDO:0021199 {source="linkedlife"} ! disease by anatomical system +is_a: MONDO:0000651 {source="MESH:D008477", source="NCIT:C26826", source="linkedlifedata", source="linkedlifedata/inferred"} ! thoracic disease +is_a: MONDO:0021199 {source="linkedlifedata"} ! disease by anatomical system intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0003728 ! mediastinum @@ -404641,7 +410406,7 @@ synonym: "Monteggias fracture" RELATED [MESH:D009011] xref: EFO:1001373 {source="MONDO:equivalentTo"} xref: MESH:D009011 {source="MONDO:equivalentTo"} xref: SCTID:123973009 {source="MONDO:equivalentTo"} -is_a: MONDO:0005322 {source="MESH:D009011"} ! ulna fracture +is_a: MONDO:0005322 {source="MESH:D009011", source="linkedlifedata/inferred"} ! ulna fracture [Term] id: MONDO:0043726 @@ -404677,8 +410442,8 @@ xref: NCIT:C35371 {source="MONDO:equivalentTo"} xref: SCTID:203522001 {source="MONDO:equivalentTo"} xref: UMLS:C0302313 {source="NCIT:C35371"} is_a: MONDO:0000837 {source="MESH:D010014"} ! bone resorption disease -is_a: MONDO:0005381 {source="EFO:1001821", source="linkedlife"} ! bone disease -is_a: MONDO:0024236 {source="linkedlife"} ! degenerative disorder +is_a: MONDO:0005381 {source="EFO:1001821", source="MESH:D010014/inferred", source="linkedlifedata"} ! bone disease +is_a: MONDO:0024236 {source="linkedlifedata"} ! degenerative disorder [Term] id: MONDO:0043735 @@ -404691,7 +410456,7 @@ xref: MESH:D010025 {source="MONDO:equivalentTo"} xref: NCIT:C63707 {source="MONDO:equivalentTo"} xref: SCTID:109333005 {source="MONDO:equivalentTo"} xref: UMLS:C0029461 {source="NCIT:C63707"} -is_a: MONDO:0005380 {source="NCIT:C63707", source="linkedlife"} ! osteonecrosis +is_a: MONDO:0005380 {source="NCIT:C63707", source="linkedlifedata"} ! osteonecrosis intersection_of: MONDO:0005380 ! osteonecrosis intersection_of: realized_in_response_to_stimulus ECTO:0000002 ! exposure to electromagnetic radiation @@ -404699,16 +410464,18 @@ intersection_of: realized_in_response_to_stimulus ECTO:0000002 ! exposure to ele id: MONDO:0043759 name: abdominal ectopic pregnancy def: "Ectopic pregnancy characterized by the implantation of the embryo in the peritoneal cavity or abdominal organs." [NCIT:C92921] +synonym: "abdomen ectopic pregnancy" EXACT [MONDO:design_pattern] synonym: "abdominal Pregnancies" RELATED [MESH:D011269] synonym: "abdominal pregnancy" EXACT [NCIT:C92921] synonym: "abdominal pregnancy" RELATED [MESH:D011269] +synonym: "ectopic pregnancy of abdomen" EXACT [MONDO:design_pattern] synonym: "intra-abdominal pregnancy" EXACT [NCIT:C92921] synonym: "Pregnancies, abdominal" RELATED [MESH:D011269] xref: MESH:D011269 {source="MONDO:equivalentTo"} xref: NCIT:C92921 {source="MONDO:equivalentTo"} xref: SCTID:82661006 {source="MONDO:equivalentTo"} xref: UMLS:C0032984 {source="NCIT:C92921"} -is_a: MONDO:0000755 {source="MESH:D011269", source="NCIT:C92921", source="linkedlife"} ! ectopic pregnancy +is_a: MONDO:0000755 {source="MESH:D011269", source="NCIT:C92921", source="linkedlifedata"} ! ectopic pregnancy intersection_of: MONDO:0000755 ! ectopic pregnancy intersection_of: disease_has_location UBERON:0000916 ! abdomen @@ -404716,7 +410483,9 @@ intersection_of: disease_has_location UBERON:0000916 ! abdomen id: MONDO:0043762 name: tubal pregnancy def: "An abnormal pregnancy in which the conception is implanted in the fallopian tube." [NCIT:C92946] +synonym: "ectopic pregnancy of fallopian tube" EXACT [MONDO:design_pattern] synonym: "fallopian pregnancy" RELATED [] +synonym: "fallopian tube ectopic pregnancy" EXACT [MONDO:design_pattern] synonym: "fallopian tube pregnancy" RELATED [] synonym: "Pregnancies, tubal" RELATED [MESH:D011274] synonym: "tubal Pregnancies" RELATED [MESH:D011274] @@ -404726,8 +410495,8 @@ xref: MESH:D011274 {source="MONDO:equivalentTo"} xref: NCIT:C92946 {source="MONDO:equivalentTo"} xref: SCTID:79586000 {source="MONDO:equivalentTo"} xref: UMLS:C0032994 {source="NCIT:C92946"} -is_a: MONDO:0000755 {source="MESH:D011274", source="NCIT:C92946", source="linkedlife"} ! ectopic pregnancy -is_a: MONDO:0002156 {source="linkedlife"} ! fallopian tube disease +is_a: MONDO:0000755 {source="MESH:D011274", source="NCIT:C92946", source="linkedlifedata"} ! ectopic pregnancy +is_a: MONDO:0002156 {source="linkedlifedata"} ! fallopian tube disease intersection_of: MONDO:0000755 ! ectopic pregnancy intersection_of: disease_has_location UBERON:0003889 ! fallopian tube @@ -404744,7 +410513,7 @@ xref: MESH:D011304 {source="MONDO:equivalentTo"} xref: NCIT:C116367 {source="MONDO:equivalentTo"} xref: SCTID:49526009 {source="MONDO:equivalentTo"} xref: UMLS:C0033074 {source="NCIT:C116367"} -is_a: MONDO:0005365 {source="NCIT:C116367"} ! hearing loss +is_a: MONDO:0005365 {source="MESH:D011304/inferred", source="NCIT:C116367", source="linkedlifedata/inferred"} ! hearing loss is_a: MONDO:0024236 ! degenerative disorder relationship: has_modifier MONDO:0021141 ! acquired @@ -404764,10 +410533,10 @@ xref: MESH:D011696 {source="MONDO:equivalentTo"} xref: NCIT:C26870 {source="MONDO:equivalentTo"} xref: SCTID:302873008 {source="MONDO:equivalentTo"} xref: UMLS:C0857305 {source="NCIT:C26870", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002049 {source="linkedlife"} ! thrombocytopenia -is_a: MONDO:0002610 {source="MESH:D011696", source="linkedlife"} ! purpura (disease) +is_a: MONDO:0002049 {source="MESH:D011696/inferred", source="linkedlifedata"} ! thrombocytopenia +is_a: MONDO:0002610 {source="MESH:D011696", source="linkedlifedata"} ! purpura (disease) is_a: MONDO:0005046 {source="MESH:D011696"} ! immune system disease -is_a: MONDO:0005570 {source="NCIT:C26870"} ! hematological system disease +is_a: MONDO:0005570 {source="MESH:D011696/inferred", source="NCIT:C26870", source="linkedlifedata/inferred"} ! hematological system disease is_a: MONDO:0019737 {source="MESH:D011696"} ! thrombotic microangiopathy [Term] @@ -404819,7 +410588,7 @@ synonym: "paralysis, respiratory muscle" RELATED [MESH:D012133] synonym: "respiratory muscle paralysis" RELATED [MESH:D012133] xref: MESH:D012133 {source="MONDO:equivalentTo"} xref: SCTID:64228003 {source="MONDO:equivalentTo"} -is_a: MONDO:0005728 {source="linkedlife"} ! diaphragm disease +is_a: MONDO:0005728 {source="linkedlifedata"} ! diaphragm disease is_a: MONDO:0006496 {source="MESH:D012133"} ! palsy is_a: MONDO:0021113 {source="MESH:D012133"} ! respiratory failure @@ -404848,7 +410617,7 @@ xref: MESH:D012593 {source="MONDO:equivalentTo"} xref: NCIT:C35009 {source="MONDO:equivalentTo"} xref: SCTID:206539008 {source="MONDO:equivalentTo"} xref: UMLS:C0036415 {source="NCIT:C35009"} -is_a: MONDO:0005093 ! skin disease +is_a: MONDO:0005093 {source="MESH:D012593/inferred", source="linkedlifedata/inferred"} ! skin disease [Term] id: MONDO:0043786 @@ -404901,6 +410670,7 @@ synonym: "cord Transections, spinal" RELATED [MESH:D013119] synonym: "cord trauma, spinal" RELATED [MESH:D013119] synonym: "cord Traumas, spinal" RELATED [MESH:D013119] synonym: "Injuries, spinal cord" RELATED [MESH:D013119] +synonym: "injury of spinal cord" EXACT [MONDO:design_pattern] synonym: "injury, spinal cord" RELATED [MESH:D013119] synonym: "laceration, spinal cord" RELATED [MESH:D013119] synonym: "Lacerations, spinal cord" RELATED [MESH:D013119] @@ -404930,9 +410700,9 @@ synonym: "traumatic myelopathy" RELATED [MESH:D013119] xref: EFO:1001919 {source="MONDO:equivalentTo"} xref: MESH:D013119 {source="MONDO:equivalentTo"} xref: SCTID:90584004 {source="MONDO:equivalentTo"} -is_a: MONDO:0002545 {source="MESH:D013119", source="linkedlife"} ! spinal cord disease -is_a: MONDO:0021178 {source="MESH:D013119"} ! injury -is_a: MONDO:0037747 {source="linkedlife"} ! spinal injury +is_a: MONDO:0002545 {source="MESH:D013119", source="linkedlifedata"} ! spinal cord disease +is_a: MONDO:0021178 {source="EFO:1001919", source="MESH:D013119", source="MESH:D013119/inferred"} ! injury +is_a: MONDO:0037747 {source="linkedlifedata"} ! spinal injury intersection_of: MONDO:0021178 ! injury intersection_of: disease_has_location UBERON:0002240 ! spinal cord @@ -404959,9 +410729,9 @@ xref: MESH:D014399 {source="MONDO:equivalentTo"} xref: NCIT:C35087 {source="MONDO:equivalentTo"} xref: SCTID:35984006 {source="MONDO:equivalentTo"} xref: UMLS:C0041330 {source="NCIT:C35087"} -is_a: MONDO:0000812 {source="linkedlife"} ! vertebral column disease -is_a: MONDO:0005962 {source="MESH:D014399"} ! skeletal tuberculosis -is_a: MONDO:0018076 {source="NCIT:C35087"} ! tuberculosis +is_a: MONDO:0000812 {source="MESH:D014399/inferred", source="linkedlifedata"} ! vertebral column disease +is_a: MONDO:0005962 {source="MESH:D014399", source="linkedlifedata/inferred"} ! skeletal tuberculosis +is_a: MONDO:0018076 {source="MESH:D014399/inferred", source="NCIT:C35087", source="linkedlifedata/inferred"} ! tuberculosis intersection_of: MONDO:0018076 ! tuberculosis intersection_of: disease_has_location UBERON:0001130 ! vertebral column @@ -404975,7 +410745,7 @@ xref: MESH:D014456 {source="MONDO:equivalentTo"} xref: NCIT:C3426 {source="MONDO:equivalentTo"} xref: SCTID:429040005 {source="MONDO:equivalentTo"} xref: UMLS:C0041582 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000001 ! disease or disorder +is_a: MONDO:0000001 {source="linkedlifedata"} ! disease or disorder [Term] id: MONDO:0043862 @@ -404988,7 +410758,7 @@ xref: MESH:D014832 {source="MONDO:equivalentTo"} xref: NCIT:C3441 {source="MONDO:equivalentTo"} xref: SCTID:71941009 {source="MONDO:equivalentTo"} xref: UMLS:C0042940 {source="NCIT:C3441"} -is_a: MONDO:0004382 {source="MESH:D014832"} ! laryngeal disease +is_a: MONDO:0004382 {source="MESH:D014832", source="NCIT:C3441/inferred"} ! laryngeal disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_disrupts GO:0071625 ! vocalization behavior @@ -405009,7 +410779,7 @@ xref: MESH:D015275 {source="MONDO:equivalentTo"} xref: NCIT:C3425 {source="MONDO:equivalentTo"} xref: SCTID:277605001 {source="MONDO:equivalentTo"} xref: UMLS:C0041364 {source="NCIT:C3425", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005066 {source="linkedlife"} ! metabolic disease +is_a: MONDO:0005066 {source="EFO:1001479", source="linkedlifedata"} ! metabolic disease is_a: MONDO:0016537 {source="MESH:D015275"} ! lymphoproliferative syndrome is_a: MONDO:0021058 {source="NCIT:C3425"} ! neoplastic syndrome @@ -405027,9 +410797,9 @@ xref: MESH:D015418 {source="MONDO:equivalentTo"} xref: NCIT:C34864 {source="MONDO:equivalentTo"} xref: SCTID:26360005 {source="MONDO:equivalentTo"} xref: UMLS:C0029125 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C34864", source="MONDO:equivalentTo"} -is_a: MONDO:0001084 {source="linkedlife"} ! primary optic atrophy -is_a: MONDO:0003608 {source="MESH:D015418", source="NCIT:C34864"} ! optic atrophy -is_a: MONDO:0003847 {source="linkedlife"} ! inherited genetic disease +is_a: MONDO:0001084 {source="linkedlifedata"} ! primary optic atrophy +is_a: MONDO:0003608 {source="MESH:D015418", source="NCIT:C34864", source="linkedlifedata/inferred"} ! optic atrophy +is_a: MONDO:0003847 {source="MESH:D015418/inferred", source="linkedlifedata", source="linkedlifedata/inferred"} ! inherited genetic disease is_a: MONDO:0024237 {source="MESH:D015418"} ! inherited neurodegenerative disorder intersection_of: MONDO:0003608 ! optic atrophy intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -405068,7 +410838,7 @@ xref: MESH:D015817 {source="MONDO:equivalentTo"} xref: NCIT:C45372 {source="MONDO:equivalentTo"} xref: SCTID:128351009 {source="MONDO:equivalentTo"} xref: UMLS:C0015403 {source="NCIT:C45372", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005328 {source="MESH:D015817", source="linkedlife"} ! eye disease +is_a: MONDO:0005328 {source="MESH:D015817", source="NCIT:C45372/inferred", source="linkedlifedata"} ! eye disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: disease_has_location UBERON:0000970 ! eye @@ -405085,7 +410855,7 @@ xref: EFO:1002021 {source="MONDO:equivalentTo"} xref: MESH:D016459 {source="MONDO:equivalentTo"} xref: NCIT:C79705 {source="MONDO:equivalentTo"} xref: UMLS:C0085073 {source="NCIT:C79705"} -is_a: MONDO:0005550 ! infectious disease +is_a: MONDO:0005550 {source="NCIT:C79705/inferred"} ! infectious disease [Term] id: MONDO:0043895 @@ -405136,7 +410906,7 @@ synonym: "pneumonitis" EXACT [NCIT:C113159] xref: NCIT:C113159 {source="MONDO:equivalentTo"} xref: SCTID:205237003 {source="MONDO:equivalentTo"} xref: UMLS:C3714636 {source="NCIT:C113159"} -is_a: MONDO:0005275 {source="linkedlife"} ! lung disease +is_a: MONDO:0005275 {source="NCIT:C113159/inferred", source="linkedlifedata"} ! lung disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_inflammation_site UBERON:0008946 ! lung parenchyma @@ -405174,8 +410944,8 @@ xref: MESH:D017676 {source="MONDO:equivalentTo"} xref: NCIT:C7406 {source="MONDO:equivalentTo"} xref: SCTID:235049008 {source="MONDO:equivalentTo"} xref: UMLS:C0206139 {source="NCIT:C7406", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006572 {source="MESH:D017676", source="MONDOLEX:0043923", source="NCIT:C7406"} ! lichen planus -is_a: MONDO:0006858 {source="MESH:D017676"} ! mouth disease +is_a: MONDO:0006572 {source="MESH:D017676", source="MONDOLEX:0043923", source="NCIT:C7406", source="linkedlifedata/inferred"} ! lichen planus +is_a: MONDO:0006858 {source="MESH:D017676", source="linkedlifedata/inferred"} ! mouth disease [Term] id: MONDO:0043953 @@ -405187,7 +410957,7 @@ synonym: "infection, Burkholderia" RELATED [MESH:D019121] synonym: "infections, Burkholderia" RELATED [MESH:D019121] xref: MESH:D019121 {source="MONDO:equivalentTo"} xref: SCTID:721736003 {source="MONDO:equivalentTo"} -is_a: MONDO:0021678 {source="MESH:D019121", source="linkedlife"} ! gram-negative bacterial infections +is_a: MONDO:0021678 {source="MESH:D019121", source="linkedlifedata"} ! gram-negative bacterial infections intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:32008 ! Burkholderia @@ -405239,7 +411009,7 @@ xref: EFO:1001772 {source="MONDO:equivalentTo"} xref: MESH:D020183 {source="MONDO:equivalentTo"} xref: SCTID:230500006 {source="MONDO:equivalentTo"} xref: UMLS:C0393777 {source="MONDO:equivalentTo"} -is_a: MONDO:0003441 {source="linkedlife"} ! dystonic disorder +is_a: MONDO:0003441 {source="linkedlifedata"} ! dystonic disorder relationship: disease_disrupts GO:0030431 ! sleep [Term] @@ -405265,7 +411035,7 @@ xref: EFO:1001762 {source="MONDO:equivalentTo"} xref: MESH:D020211 {source="MONDO:equivalentTo"} xref: SCTID:129618003 {source="MONDO:equivalentTo"} xref: UMLS:C0238015 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0001292 {source="MESH:D020211", source="linkedlife"} ! autonomic nervous system disease +is_a: MONDO:0001292 {source="MESH:D020211", source="linkedlifedata"} ! autonomic nervous system disease [Term] id: MONDO:0043982 @@ -405282,7 +411052,7 @@ synonym: "ulnar nerve entrapment, elbow" RELATED [MESH:D020430] xref: EFO:1001363 {source="MONDO:equivalentTo"} xref: MESH:D020430 {source="MONDO:equivalentTo"} xref: SCTID:56177003 {source="MONDO:equivalentTo"} -is_a: MONDO:0007006 {source="MESH:D020430"} ! ulnar neuropathy +is_a: MONDO:0007006 {source="MESH:D020430", source="MESH:D020430/inferred", source="linkedlifedata/inferred"} ! ulnar neuropathy [Term] id: MONDO:0043985 @@ -405317,7 +411087,7 @@ xref: EFO:1001827 {source="MONDO:equivalentTo"} xref: MESH:D031368 {source="MONDO:equivalentTo"} xref: SCTID:449783002 {source="MONDO:equivalentTo"} xref: UMLS:C1135841 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005609 {source="MESH:D031368", source="linkedlife"} ! herpes zoster +is_a: MONDO:0005609 {source="MESH:D031368", source="linkedlifedata"} ! herpes zoster [Term] id: MONDO:0043994 @@ -405351,7 +411121,7 @@ xref: MESH:D046089 {source="MONDO:equivalentTo"} xref: NCIT:C26974 {source="MONDO:equivalentTo"} xref: SCTID:77507001 {source="MONDO:equivalentTo"} xref: UMLS:C0155552 {source="NCIT:C26974", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005365 {source="MESH:D046089", source="NCIT:C26974"} ! hearing loss +is_a: MONDO:0005365 {source="MESH:D046089", source="NCIT:C26974", source="linkedlifedata/inferred"} ! hearing loss [Term] id: MONDO:0044013 @@ -405385,7 +411155,7 @@ xref: MESH:D050032 {source="MONDO:equivalentTo"} xref: NCIT:C114389 {source="MONDO:equivalentTo"} xref: SCTID:52772002 {source="MONDO:equivalentTo"} xref: UMLS:C0271815 {source="NCIT:C114389", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0004126 {source="NCIT:C114389", source="linkedlife"} ! thyroiditis (disease) +is_a: MONDO:0004126 {source="MESH:D050032/inferred", source="NCIT:C114389", source="linkedlifedata"} ! thyroiditis (disease) is_a: MONDO:0005623 {source="MESH:D050032"} ! autoimmune thyroid disease intersection_of: MONDO:0004126 ! thyroiditis (disease) intersection_of: MONDO:0044013 ! puerperal disorder @@ -405428,7 +411198,7 @@ xref: MESH:D054068 {source="MONDO:equivalentTo"} xref: SCTID:238772004 {source="MONDO:equivalentTo"} xref: UMLS:C0085642 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} is_a: MONDO:0005294 {source="MESH:D054068"} ! peripheral vascular disease -is_a: MONDO:0019293 {source="MESH:D054068", source="linkedlife"} ! skin vascular disease +is_a: MONDO:0019293 {source="MESH:D054068", source="linkedlifedata"} ! skin vascular disease [Term] id: MONDO:0044067 @@ -405454,8 +411224,8 @@ xref: EFO:1001311 {source="MONDO:equivalentTo"} xref: MESH:D058387 {source="MONDO:equivalentTo"} xref: SCTID:432261003 {source="MONDO:equivalentTo"} xref: UMLS:C0877445 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0002026 {source="linkedlife"} ! candidiasis -is_a: MONDO:0044067 ! candidiasis, invasive +is_a: MONDO:0002026 {source="MESH:D058387/inferred", source="linkedlifedata"} ! candidiasis +is_a: MONDO:0044067 {source="MESH:D058387"} ! candidiasis, invasive [Term] id: MONDO:0044079 @@ -405485,7 +411255,7 @@ xref: NCIT:C123225 {source="MONDO:equivalentTo"} xref: SCTID:445236007 {source="MONDO:equivalentTo"} xref: UMLS:C2242703 {source="NCIT:C123225", source="MONDO:equivalentTo"} is_a: MONDO:0002254 {source="MONDOLEX:0044079", source="NCIT:C123225"} ! syndromic disease -is_a: MONDO:0005252 {source="linkedlife"} ! heart failure +is_a: MONDO:0005252 {source="MESH:D059347", source="linkedlifedata"} ! heart failure relationship: disease_has_feature MONDO:0001106 {source="MESH:D059347"} ! kidney failure relationship: disease_has_feature MONDO:0005252 {source="MESH:D059347"} ! heart failure @@ -405530,24 +411300,26 @@ xref: MESH:D064068 {source="MONDO:equivalentTo"} xref: NCIT:C45426 {source="MONDO:equivalentTo"} xref: SCTID:61738006 {source="MONDO:equivalentTo"} xref: UMLS:C0341299 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C45426", source="MONDO:equivalentTo"} -is_a: MONDO:0005020 ! intestinal disease -is_a: MONDO:0005066 ! metabolic disease +is_a: MONDO:0005020 {source="MESH:D064068/inferred", source="NCIT:C45426/inferred", source="linkedlifedata/inferred"} ! intestinal disease +is_a: MONDO:0005066 {source="MESH:D064068/inferred"} ! metabolic disease relationship: excluded_subClassOf MONDO:0005130 {source="NCIT:C45426"} ! celiac disease [Term] id: MONDO:0044098 name: ovarian ectopic pregnancy def: "An abnormal pregnancy in which the conception is implanted on the ovary." [NCIT:C92945] +synonym: "ectopic pregnancy of ovary" EXACT [MONDO:design_pattern] synonym: "ovarian Pregnancies" RELATED [MESH:D065172] synonym: "ovarian pregnancy" EXACT [NCIT:C92945] synonym: "ovarian pregnancy" RELATED [MESH:D065172] +synonym: "ovary ectopic pregnancy" EXACT [MONDO:design_pattern] synonym: "Pregnancies, ovarian" RELATED [MESH:D065172] xref: MESH:D065172 {source="MONDO:equivalentTo"} xref: NCIT:C92945 {source="MONDO:equivalentTo"} xref: SCTID:9899009 {source="MONDO:equivalentTo"} xref: UMLS:C0032991 {source="NCIT:C92945"} -is_a: MONDO:0000755 {source="MESH:D065172", source="NCIT:C92945", source="linkedlife"} ! ectopic pregnancy -is_a: MONDO:0005558 {source="linkedlife"} ! ovarian disease +is_a: MONDO:0000755 {source="MESH:D065172", source="NCIT:C92945", source="linkedlifedata"} ! ectopic pregnancy +is_a: MONDO:0005558 {source="linkedlifedata"} ! ovarian disease intersection_of: MONDO:0000755 ! ectopic pregnancy intersection_of: disease_has_location UBERON:0000992 ! ovary @@ -405558,14 +411330,16 @@ def: "An abnormal pregnancy in which the conception is implanted and develops in synonym: "cornual Pregnancies" RELATED [MESH:D065173] synonym: "cornual pregnancy" EXACT [NCIT:C92761] synonym: "cornual pregnancy" RELATED [MESH:D065173] +synonym: "ectopic pregnancy of uterine horn" EXACT [MONDO:design_pattern] synonym: "Pregnancies, cornual" RELATED [MESH:D065173] synonym: "rudimentary horn pregnancy" RELATED [] +synonym: "uterine horn ectopic pregnancy" EXACT [MONDO:design_pattern] xref: MESH:D065173 {source="MONDO:equivalentTo"} xref: NCIT:C92761 {source="MONDO:equivalentTo"} xref: SCTID:87605005 {source="MONDO:equivalentTo"} xref: UMLS:C0269286 {source="NCIT:C92761"} -is_a: MONDO:0000755 {source="MESH:D065173", source="NCIT:C92761", source="linkedlife"} ! ectopic pregnancy -is_a: MONDO:0002654 {source="linkedlife"} ! uterine disease +is_a: MONDO:0000755 {source="MESH:D065173", source="NCIT:C92761", source="linkedlifedata"} ! ectopic pregnancy +is_a: MONDO:0002654 {source="linkedlifedata"} ! uterine disease intersection_of: MONDO:0000755 ! ectopic pregnancy intersection_of: disease_has_location UBERON:0002247 ! uterine horn @@ -405580,21 +411354,24 @@ xref: NCIT:C117104 {source="MONDO:equivalentTo"} xref: Orphanet:46489 {source="MONDO:equivalentObsolete"} xref: SCTID:239889005 {source="MONDO:equivalentTo"} xref: UMLS:C0409977 {source="NCIT:C117104", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005282 {source="linkedlife"} ! cutaneous lupus erythematosus -is_a: MONDO:0007915 {source="MONDOLEX:0044113", source="NCIT:C117104", source="linkedlife"} ! systemic lupus erythematosus (disease) +is_a: MONDO:0005282 {source="linkedlifedata"} ! cutaneous lupus erythematosus +is_a: MONDO:0007915 {source="MONDOLEX:0044113", source="NCIT:C117104", source="linkedlifedata"} ! systemic lupus erythematosus (disease) [Term] id: MONDO:0044137 name: vitreous body disorder def: "Any disease affecting the vitreous body of the eye." [NCIT:C45256] +synonym: "disease of vitreous body" EXACT [MONDO:design_pattern] synonym: "disorder of vitreous body" EXACT [] +synonym: "vitreous body disease" EXACT [MONDO:design_pattern] +synonym: "vitreous body disease or disorder" EXACT [MONDO:design_pattern] synonym: "vitreous body disorder" EXACT [NCIT:C45256] xref: EFO:0008624 {source="MONDO:equivalentTo"} -xref: ICD9:379.29 {source="linkedlife"} +xref: ICD9:379.29 {source="linkedlifedata"} xref: NCIT:C45256 {source="MONDO:equivalentTo"} xref: SCTID:76682005 {source="MONDO:equivalentTo"} xref: UMLS:C0155365 {source="NCIT:C45256", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005328 {source="NCIT:C45256"} ! eye disease +is_a: MONDO:0005328 {source="EFO:0008624", source="NCIT:C45256", source="linkedlifedata/inferred"} ! eye disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001798 ! vitreous body @@ -405612,8 +411389,8 @@ xref: EFO:1001907 {source="MONDO:equivalentTo"} xref: NCIT:C50587 {source="MONDO:equivalentTo"} xref: SCTID:95802009 {source="MONDO:equivalentTo"} xref: UMLS:C0235812 {source="NCIT:C50587", source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0006806 {source="linkedlife"} ! intermediate uveitis (disease) -is_a: MONDO:0044137 {source="NCIT:C50587"} ! vitreous body disorder +is_a: MONDO:0006806 {source="linkedlifedata"} ! intermediate uveitis (disease) +is_a: MONDO:0044137 {source="NCIT:C50587", source="linkedlifedata"} ! vitreous body disorder [Term] id: MONDO:0044141 @@ -405624,8 +411401,8 @@ xref: EFO:1001906 {source="MONDO:equivalentTo"} xref: NCIT:C97193 {source="MONDO:equivalentTo"} xref: SCTID:56576003 {source="MONDO:equivalentTo"} xref: UMLS:C0236794 {source="NCIT:C97193"} -is_a: MONDO:0005383 {source="EFO:1001906", source="MONDOLEX:0044141", source="linkedlife"} ! panic disorder -is_a: MONDO:0005618 {source="EFO:1001906/inferred", source="NCIT:C97193"} ! anxiety disorder +is_a: MONDO:0005383 {source="EFO:1001906", source="MONDOLEX:0044141", source="linkedlifedata"} ! panic disorder +is_a: MONDO:0005618 {source="EFO:1001906/inferred", source="NCIT:C97193", source="linkedlifedata/inferred"} ! anxiety disorder disjoint_from: MONDO:0044144 ! panic disorder with agoraphobia [Term] @@ -405636,7 +411413,7 @@ synonym: "panic disorder with agoraphobia" EXACT [NCIT:C97194] xref: NCIT:C97194 {source="MONDO:equivalentTo"} xref: SCTID:35607004 {source="MONDO:equivalentTo"} xref: UMLS:C0236800 {source="NCIT:C97194"} -is_a: MONDO:0005618 {source="NCIT:C97194"} ! anxiety disorder +is_a: MONDO:0005618 {source="NCIT:C97194", source="linkedlifedata/inferred"} ! anxiety disorder intersection_of: MONDO:0003709 ! agoraphobia intersection_of: MONDO:0005383 ! panic disorder @@ -405718,10 +411495,12 @@ is_a: MONDO:0008975 {source="MONDOLEX:0044206", source="OMIM:215150"} ! otospond id: MONDO:0044207 name: specific granule deficiency 1 def: "Any specific granule deficiency in which the cause of the disease is a mutation in the CEBPE gene." [MONDO:patterns/disease_series_by_gene] +synonym: "CEBPE specific granule deficiency" EXACT [MONDO:design_pattern] synonym: "lactoferrin-deficient neutrophils" RELATED [OMIM:245480] synonym: "neutrophil lactoferrin deficiency" RELATED [OMIM:245480] synonym: "SGD1" RELATED [OMIM:245480] synonym: "specific granule deficiency 1; SGD1" RELATED [OMIM:245480] +synonym: "specific granule deficiency caused by mutation in CEBPE" EXACT [MONDO:design_pattern] xref: OMIM:245480 {source="MONDO:equivalentTo"} xref: Orphanet:169142 {source="OMIM:245480", source="MONDO:subClassOf"} xref: UMLS:C0398593 {source="OMIM:245480", source="MONDO:subClassOf"} @@ -405760,19 +411539,20 @@ id: MONDO:0044211 name: idiopathic urticaria synonym: "idiopathic angioedema-urticaria" RELATED [] xref: ICD10:L50.1 {source="MONDO:equivalentTo"} -xref: ICD9:708.1 {source="linkedlife"} +xref: ICD9:708.1 {source="linkedlifedata"} xref: SCTID:42265009 {source="MONDO:equivalentTo"} xref: UMLS:C0157741 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0005492 {source="ICD10:L50.1"} ! urticaria (disease) +is_a: MONDO:0005492 {source="ICD10:L50.1", source="linkedlifedata"} ! urticaria (disease) [Term] id: MONDO:0044212 name: chronic idiopathic urticaria def: "Chronic form of idiopathic urticaria." [MONDO:patterns/chronic] synonym: "chronic idiopathic urticaria" EXACT [SCTID:302162004] +synonym: "idiopathic urticaria, chronic" EXACT [MONDO:design_pattern] xref: SCTID:302162004 {source="MONDO:equivalentTo"} xref: UMLS:C0578870 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0044211 {source="MONDOLEX:0044212"} ! idiopathic urticaria +is_a: MONDO:0044211 {source="MONDOLEX:0044212", source="linkedlifedata"} ! idiopathic urticaria intersection_of: MONDO:0044211 ! idiopathic urticaria intersection_of: has_modifier PATO:0001863 ! chronic @@ -405849,13 +411629,12 @@ is_obsolete: true [Term] id: MONDO:0044220 name: obsolete blood group, 1 system -def: "The i and I antigens of the I blood group system are carbohydrate structures carried on glycolipids and glycoproteins and are characterized as straight or branched glycochains composed of repeating N-acetyllactosamine (LacNAc) units, respectively. Conversion of i antigen into an I-active structure requires the activity of the I-branching enzyme, beta-1,6-N-acetylglucosaminyltransferase (GCNT2; OMIM:600429), which adds the decisive GlcNAc-beta-1-6 branch onto the straight poly-LacNAc chains. Expression of the i and I antigens on red blood cells (RBCs) is reciprocal and developmentally regulated. adult human RBCs predominantly express I antigen, whereas fetal and neonatal RBCs predominantly express i antigen. After birth, I antigen levels increase gradually as i antigen levels fall, with the normal Ii status of adult RBCs reached after about 13 to 20 months. Mutations that specifically affect 1 of the 3 variants produced by the GCNT2 gene cause the rare adult i phenotype, in which adult RBCs are rich in i antigen and contain low levels of I antigen. Mutations that eliminate all 3 GCNT2 variants cause the adult i phenotype with congenital cataract (CTRCT13; OMIM:116700) (review by {10:Yu and Lin, 2011})." [OMIM:110800] comment: Obsoleted as it represents a trait or is a legacy entry synonym: "adult I phenotype" RELATED [OMIM:110800] -synonym: "blood group, I system; Ii" RELATED [OMIM:110800] +synonym: "blood group, I system; II" RELATED [OMIM:110800] synonym: "I blood Group system" RELATED [OMIM:110800] -synonym: "Ii" RELATED [OMIM:110800] -synonym: "Ii blood Group system" RELATED [OMIM:110800] +synonym: "II" RELATED [OMIM:110800] +synonym: "II blood Group system" RELATED [OMIM:110800] xref: OMIM:110800 {source="MONDO:obsoleteEquivalent"} xref: UMLS:C0020717 {source="OMIM:110800"} xref: UMLS:C1292164 {source="OMIM:110800"} @@ -405864,7 +411643,6 @@ is_obsolete: true [Term] id: MONDO:0044221 name: obsolete blood group--lutheran inhibitor -def: "The Lutheran inhibitor blood group phenotype (In(Lu)) is characterized phenotypically by the apparent absence of the Lu antigen (BCAM; OMIM:612773) on red blood cells during serologic tests, i.e., Lu(a-b-). Since it is inherited as an autosomal dominant trait, it was initially postulated to result from an inhibitor of the Lu antigen. However, {9:Singleton et al. (2008)} found that the phenotype results from a mutation in the transcription factor KLF1 that regulates expression of the BCAM gene.nnThe Lu-null phenotype, or autosomal recessive true Lu(a-b-) (OMIM:247420), is caused by homozygous or compound heterozygous inactivating mutations in the BCAM gene." [OMIM:111150] comment: Obsoleted as it represents a trait or is a legacy entry synonym: "blood group--Lutheran INHIBITOR; INLU" RELATED [OMIM:111150] synonym: "dominant 50U (A-B-) phenotype" RELATED [OMIM:111150] @@ -405897,7 +411675,6 @@ is_obsolete: true [Term] id: MONDO:0044223 name: obsolete radin blood group antigen -def: "Radin is a rare red cell antigen discovered by {5:Rausen et al. (1967)} in 5 families with varying ethnic backgrounds. It has been shown to cause mild to moderate hemolytic disease of the newborn in some cases. The Radin antigen is determined by a polymorphism in the ERMAP gene ({609017.0003}) and thus is a member of the blood group Scianna ({6:Wagner et al., 2003}). Radin has alternatively been labeled Sc4 to reflect this relationship.nn{1:Harvey et al. (1983)} estimated the frequency of the Radin antigen among Europeans to be 0.04% to 0.66% with the highest frequencies occurring among Swedes and Danes." [OMIM:111620] comment: Obsoleted as it represents a trait or is a legacy entry synonym: "blood Group--Radin antigen" RELATED [OMIM:111620] synonym: "RADIN blood group antigen; RD" RELATED [OMIM:111620] @@ -406948,7 +412725,7 @@ synonym: "tumor of soft tissue and bone" EXACT [NCIT:C3810] synonym: "tumor of soft tissue and skeleton" EXACT [NCIT:C3810] xref: NCIT:C3810 {source="MONDO:equivalentTo"} xref: UMLS:C0206765 {source="NCIT:C3810"} -is_a: MONDO:0005070 {source="MONDOLEX:0044334"} ! neoplasm (disease) +is_a: MONDO:0005070 {source="MONDOLEX:0044334", source="NCIT:C3810/inferred"} ! neoplasm (disease) [Term] id: MONDO:0044335 @@ -406965,7 +412742,7 @@ xref: NCIT:C4242 {source="MONDO:equivalentTo"} xref: SCTID:92069005 {source="MONDO:equivalentTo"} xref: UMLS:C0334450 {source="MONDO:equivalentTo", source="NCIT:C4242"} is_a: MONDO:0000654 {source="MONDOLEX:0044335", source="NCIT:C4242"} ! benign connective and soft tissue neoplasm -is_a: MONDO:0006424 {source="NCIT:C4242"} ! soft tissue neoplasm +is_a: MONDO:0006424 {source="NCIT:C4242", source="linkedlifedata"} ! soft tissue neoplasm intersection_of: MONDO:0006424 ! soft tissue neoplasm intersection_of: has_modifier PATO:0002096 ! neoplastic, non-malignant @@ -406997,11 +412774,11 @@ is_a: MONDO:0018078 {source="NCIT:C6926"} ! soft tissue sarcoma id: MONDO:0044338 name: autoimmune primary ovarian failure synonym: "primary ovarian failure arising through autoimmunity" EXACT [] -xref: ICD9:256.39 {source="SCTID:237790001"} -xref: ICD9:279.49 {source="SCTID:237790001"} +xref: ICD9:256.39 {source="linkedlifedata"} +xref: ICD9:279.49 {source="linkedlifedata"} xref: SCTID:237790001 {source="MONDO:equivalentTo"} xref: UMLS:C0342508 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0000569 ! autoimmune disease of endocrine system +is_a: MONDO:0000569 {source="linkedlifedata"} ! autoimmune disease of endocrine system intersection_of: MONDO:0005387 ! primary ovarian failure intersection_of: disease_arises_from_feature HP:0002960 ! Autoimmunity @@ -407013,6 +412790,7 @@ synonym: "degeneration of lumbar intervertebral disc" EXACT [] synonym: "degenerative disc disease" BROAD [EFO:0004994] synonym: "degenerative disc disorder" BROAD [EFO:0004994] synonym: "IDD" BROAD [OMIM:603932] +synonym: "intervertebral disc degenerative disorder of lumbar region of vertebral column" EXACT [MONDO:design_pattern] synonym: "intervertebral disc disease" BROAD [EFO:0004994] synonym: "intervertebral DISC disease; IDD" BROAD [OMIM:603932] synonym: "lumbar Disc Degeneration" EXACT [NCIT:C27154] @@ -407021,6 +412799,7 @@ synonym: "lumbar Disc degenerative disease" EXACT [NCIT:C27154] synonym: "lumbar Disc degenerative disorder" EXACT [NCIT:C27154] synonym: "lumbar disc disease" RELATED [OMIM:603932] synonym: "lumbar disc herniation, susceptibility to" RELATED [OMIM:603932] +synonym: "lumbar region of vertebral column intervertebral disc degenerative disorder" EXACT [MONDO:design_pattern] xref: EFO:0004994 {source="MONDO:equivalentTo"} xref: MESH:C535531 {source="EFO:0004994", source="MONDO:equivalentTo"} xref: NCIT:C27154 {source="MONDO:equivalentTo"} @@ -407030,7 +412809,7 @@ xref: UMLS:C0158252 {source="OMIM:603932", source="NCBI:mim2gene_medline"} xref: UMLS:C0221775 {source="OMIM:603932"} xref: UMLS:C2675551 {source="OMIM:603932"} xref: UMLS:C2676840 {source="OMIM:603932"} -is_a: MONDO:0011385 {source="MESH:C535531", source="MONDOLEX:0044339", source="NCIT:C27154", source="linkedlife"} ! intervertebral disc degenerative disorder +is_a: MONDO:0011385 {source="MESH:C535531", source="MONDOLEX:0044339", source="NCIT:C27154", source="linkedlifedata"} ! intervertebral disc degenerative disorder intersection_of: MONDO:0011385 ! intervertebral disc degenerative disorder intersection_of: disease_has_location UBERON:0006074 ! lumbar region of vertebral column relationship: disease_has_basis_in_dysfunction_of http://identifiers.org/hgnc/11786 {source="mim2gene_medgen"} ! THBS2 @@ -407045,13 +412824,15 @@ id: MONDO:0044342 name: thoracic disc degenerative disorder def: "Any degenerative disorder affecting one or more vertebral discs of the thoracic spine." [NCIT:C27155] synonym: "degeneration of thoracic intervertebral disc" EXACT [] +synonym: "intervertebral disc degenerative disorder of thoracic region of vertebral column" EXACT [MONDO:design_pattern] synonym: "thoracic Disc Degeneration" EXACT [NCIT:C27155] synonym: "thoracic Disc degenerative disease" EXACT [NCIT:C27155] synonym: "thoracic Disc degenerative disorder" EXACT [NCIT:C27155] +synonym: "thoracic region of vertebral column intervertebral disc degenerative disorder" EXACT [MONDO:design_pattern] xref: NCIT:C27155 {source="MONDO:equivalentTo"} xref: SCTID:68675004 {source="MONDO:equivalentTo"} xref: UMLS:C0263872 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0011385 {source="NCIT:C27155", source="linkedlife"} ! intervertebral disc degenerative disorder +is_a: MONDO:0011385 {source="NCIT:C27155", source="linkedlifedata"} ! intervertebral disc degenerative disorder intersection_of: MONDO:0011385 ! intervertebral disc degenerative disorder intersection_of: disease_has_location UBERON:0006073 ! thoracic region of vertebral column @@ -407062,12 +412843,14 @@ def: "Any degenerative disorder affecting one or more vertebral discs of the cer synonym: "cervical Disc Degeneration" EXACT [NCIT:C27156] synonym: "cervical Disc degenerative disease" EXACT [NCIT:C27156] synonym: "cervical Disc degenerative disorder" EXACT [NCIT:C27156] +synonym: "cervical region of vertebral column intervertebral disc degenerative disorder" EXACT [MONDO:design_pattern] synonym: "degeneration of cervical intervertebral disc" EXACT [] +synonym: "intervertebral disc degenerative disorder of cervical region of vertebral column" EXACT [MONDO:design_pattern] xref: NCIT:C27156 {source="MONDO:equivalentTo"} xref: SCTID:69195002 {source="MONDO:equivalentTo"} xref: UMLS:C0158262 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} xref: UMLS:C0410606 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0011385 {source="MONDOLEX:0044343", source="NCIT:C27156", source="linkedlife"} ! intervertebral disc degenerative disorder +is_a: MONDO:0011385 {source="MONDOLEX:0044343", source="NCIT:C27156", source="linkedlifedata"} ! intervertebral disc degenerative disorder intersection_of: MONDO:0011385 ! intervertebral disc degenerative disorder intersection_of: disease_has_location UBERON:0006072 ! cervical region of vertebral column @@ -407084,7 +412867,7 @@ synonym: "schistosomiasis japonicum" RELATED [MESH:D012554] xref: MESH:D012554 {source="MONDO:equivalentTo"} xref: NCIT:C35001 {source="MONDO:equivalentTo"} xref: SCTID:268058007 {source="MONDO:equivalentTo"} -is_a: MONDO:0015254 {source="MESH:D012554", source="NCIT:C35001", source="linkedlife"} ! schistosomiasis +is_a: MONDO:0015254 {source="MESH:D012554", source="NCIT:C35001", source="linkedlifedata"} ! schistosomiasis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:6182 ! Schistosoma japonicum @@ -407096,7 +412879,7 @@ synonym: "Schistosoma mansoni infection" EXACT [NCIT:C35002] xref: MESH:D012555 {source="MONDO:equivalentTo"} xref: NCIT:C35002 {source="MONDO:equivalentTo"} xref: SCTID:750009 {source="MONDO:equivalentTo"} -is_a: MONDO:0015254 {source="MESH:D012555", source="NCIT:C35002", source="linkedlife"} ! schistosomiasis +is_a: MONDO:0015254 {source="MESH:D012555", source="NCIT:C35002", source="linkedlifedata"} ! schistosomiasis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:6183 ! Schistosoma mansoni @@ -407105,8 +412888,8 @@ id: MONDO:0044346 name: echinococcus granulosus infectious disease synonym: "echinococcus granulosus infection" EXACT [] synonym: "unilocular hydatid disease" RELATED [] -xref: ICD9:122.3 {source="linkedlife"} -xref: ICD9:122.4 {source="linkedlife"} +xref: ICD9:122.3 {source="linkedlifedata"} +xref: ICD9:122.4 {source="linkedlifedata"} xref: SCTID:75006000 {source="MONDO:equivalentTo"} xref: UMLS:C0152068 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} intersection_of: MONDO:0000001 ! disease or disorder @@ -407116,11 +412899,15 @@ intersection_of: realized_in_response_to_stimulus NCBITaxon:6210 ! Echinococcus id: MONDO:0044347 name: red blood cell disease def: "A disease or disorder that involves the erythrocyte." [MONDO:patterns/location] +synonym: "disease of erythrocyte" EXACT [MONDO:design_pattern] +synonym: "disorder of erythrocyte" EXACT [MONDO:design_pattern] +synonym: "erythrocyte disease" EXACT [MONDO:design_pattern] +synonym: "erythrocyte disease or disorder" EXACT [MONDO:design_pattern] synonym: "red blood cell disorder" EXACT [] -xref: ICD9:289.9 {source="linkedlife"} +xref: ICD9:289.9 {source="linkedlifedata"} xref: SCTID:38292009 {source="MONDO:equivalentTo"} xref: UMLS:C0221016 {source="MEDGEN:kboom-pr97-c98", source="MONDO:equivalentTo"} -is_a: MONDO:0005570 {source="linkedlife"} ! hematological system disease +is_a: MONDO:0005570 {source="linkedlifedata"} ! hematological system disease is_a: MONDO:0021197 {source="MONDO:metaclass"} ! disease by cellular component affected is_a: MONDO:0044979 {source="MONDO:metaclass"} ! disease by cell type intersection_of: MONDO:0000001 ! disease or disorder @@ -407133,9 +412920,9 @@ synonym: "globin abnormality" RELATED [] synonym: "hemoglobin disease" RELATED [] synonym: "hemoglobin disorder" RELATED [] synonym: "hemoglobinopathy" EXACT [] -xref: ICD9:282.7 {source="linkedlife"} +xref: ICD9:282.7 {source="linkedlifedata"} xref: SCTID:80141007 {source="MONDO:equivalentTo"} -is_a: MONDO:0044347 {source="linkedlife"} ! red blood cell disease +is_a: MONDO:0044347 {source="linkedlifedata"} ! red blood cell disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_dysfunction_of CHEBI:35143 ! hemoglobin relationship: disease_has_feature MONDO:0002280 ! anemia (disease) @@ -407147,7 +412934,7 @@ def: "An instance of hemoglobinopathy that is acquired during the lifetime of th synonym: "acquired hemoglobinopathy" EXACT [] xref: SCTID:127039000 {source="MONDO:equivalentTo"} xref: UMLS:C1263995 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0044348 {source="linkedlife"} ! hemoglobinopathy +is_a: MONDO:0044348 {source="linkedlifedata"} ! hemoglobinopathy intersection_of: MONDO:0044348 ! hemoglobinopathy intersection_of: has_modifier MONDO:0021141 ! acquired @@ -407159,7 +412946,7 @@ xref: MESH:C563982 {source="MONDO:equivalentTo"} xref: OMIM:600166 {source="MONDO:equivalentTo"} xref: Orphanet:99878 {source="OMIM:600166", source="MONDO:subClassOf"} xref: UMLS:C1838501 {source="NCBI:mim2gene_medline", source="OMIM:600166"} -is_a: MONDO:0010837 ! primary hyperparathyroidism (disease) +is_a: MONDO:0010837 {source="MESH:C563982"} ! primary hyperparathyroidism (disease) is_a: MONDO:0020524 {source="ORDO:99878/btnt"} ! primary parathyroid hyperplasia [Term] @@ -407167,11 +412954,11 @@ id: MONDO:0044351 name: Schistosoma intercalatum infectious disease synonym: "infection by Schistosoma intercalatum" EXACT [NCIT:C35364] synonym: "infection caused by Schistosoma intercalatum" RELATED [] -xref: ICD9:120.8 {source="linkedlife"} +xref: ICD9:120.8 {source="linkedlifedata"} xref: NCIT:C35364 {source="MONDO:equivalentTo"} xref: SCTID:52179003 {source="MONDO:equivalentTo"} xref: UMLS:C0276932 {source="MEDGEN:kboom-pr98-c99", source="MONDO:equivalentTo"} -is_a: MONDO:0015254 {source="NCIT:C35364", source="linkedlife"} ! schistosomiasis +is_a: MONDO:0015254 {source="NCIT:C35364", source="linkedlifedata"} ! schistosomiasis intersection_of: MONDO:0000001 ! disease or disorder intersection_of: realized_in_response_to_stimulus NCBITaxon:6187 ! Schistosoma intercalatum @@ -408083,9 +413870,9 @@ xref: DOID:8850 {source="MONDO:subClassOf"} xref: NCIT:C4762 {source="MONDO:equivalentTo"} xref: SCTID:363378008 {source="MONDO:equivalentTo"} xref: UMLS:C0496763 {source="MEDGEN:kboom-pr98-c99", source="NCIT:C4762", source="MONDO:equivalentTo"} -is_a: MONDO:0004669 {source="MONDOLEX:0044743", source="NCIT:C4762"} ! salivary gland cancer -is_a: MONDO:0004992 {source="linkedlife"} ! cancer -is_a: MONDO:0021368 {source="MONDOLEX:0044743", source="NCIT:C4762", source="linkedlife"} ! neoplasm of major salivary gland +is_a: MONDO:0004669 {source="MONDOLEX:0044743", source="NCIT:C4762", source="linkedlifedata"} ! salivary gland cancer +is_a: MONDO:0004992 {source="linkedlifedata", source="linkedlifedata/inferred"} ! cancer +is_a: MONDO:0021368 {source="MONDOLEX:0044743", source="NCIT:C4762", source="linkedlifedata"} ! neoplasm of major salivary gland intersection_of: MONDO:0004992 ! cancer intersection_of: disease_has_location UBERON:0001829 ! major salivary gland @@ -408096,7 +413883,7 @@ def: "A condition characterized by the congenital or acquired deficiency of prek synonym: "prekallikrein deficiency" EXACT [NCIT:C99022] xref: NCIT:C99022 {source="MONDO:equivalentTo"} xref: SCTID:48976006 {source="MONDO:kboom-pr-1.00/0.79/7.83", source="MONDO:equivalentTo"} -is_a: MONDO:0001531 ! blood coagulation disease +is_a: MONDO:0001531 {source="linkedlifedata/inferred"} ! blood coagulation disease [Term] id: MONDO:0044745 @@ -408106,6 +413893,7 @@ synonym: "craniocervical Injuries" RELATED [MESH:D020196] synonym: "craniocervical injury" RELATED [MESH:D020196] synonym: "Injuries, craniocervical" RELATED [MESH:D020196] synonym: "Injuries, nervous system" RELATED [MESH:D020196] +synonym: "injury of nervous system" EXACT [MONDO:design_pattern] synonym: "injury, craniocervical" RELATED [MESH:D020196] synonym: "injury, nervous system" RELATED [MESH:D020196] synonym: "nervous system Injuries" RELATED [MESH:D020196] @@ -408141,7 +413929,7 @@ synonym: "human anaplasmosis" EXACT [] xref: ICD9:082.49 xref: NCIT:C128425 {source="MONDO:equivalentTo"} xref: SCTID:427481004 {source="MONDO:equivalentTo"} -is_a: MONDO:0025303 ! anaplasmosis +is_a: MONDO:0025303 {source="linkedlifedata"} ! anaplasmosis relationship: transmitted_by NCBITaxon:6944 ! Ixodes [Term] @@ -408177,7 +413965,7 @@ synonym: "infection caused by Lassa virus" EXACT [] synonym: "Lassa virus infection" EXACT [] xref: SCTID:721779001 {source="MONDO:equivalentTo"} xref: UMLS:C1617072 {source="MONDO:equivalentTo"} -is_a: MONDO:0005650 {source="linkedlife"} ! Arenaviridae infectious disease +is_a: MONDO:0005650 {source="linkedlifedata"} ! Arenaviridae infectious disease intersection_of: MONDO:0005550 ! infectious disease intersection_of: realized_in_response_to_stimulus NCBITaxon:11620 ! Lassa mammarenavirus @@ -408196,7 +413984,7 @@ name: lumbar spinal stenosis synonym: "lumbar spinal stenosis" EXACT [] synonym: "spinal stenosis of lumbar region" EXACT [] xref: HP:0004610 {source="MONDO:otherHierarchy"} -xref: ICD9:724.02 {source="linkedlife"} +xref: ICD9:724.02 {source="linkedlifedata"} xref: SCTID:18347007 {source="MONDO:equivalentTo"} xref: UMLS:C0158288 {source="MONDO:equivalentTo"} intersection_of: MONDO:0005965 ! spinal stenosis @@ -408232,8 +414020,8 @@ synonym: "Benign tumor of the choroid plexus" EXACT [NCIT:C8405] xref: NCIT:C8405 {source="MONDO:equivalentTo"} xref: SCTID:254943007 {source="MONDO:equivalentTo"} xref: UMLS:C0346290 {source="MONDO:equivalentTo"} -is_a: MONDO:0016717 {source="NCIT:C8405"} ! choroid plexus neoplasm -is_a: MONDO:0021451 {source="NCIT:C8405"} ! benign neoplasm of brain +is_a: MONDO:0016717 {source="NCIT:C8405", source="linkedlifedata"} ! choroid plexus neoplasm +is_a: MONDO:0021451 {source="NCIT:C8405", source="linkedlifedata/inferred"} ! benign neoplasm of brain intersection_of: MONDO:0005165 ! benign neoplasm intersection_of: disease_has_location UBERON:0001886 ! choroid plexus @@ -408255,7 +414043,7 @@ xref: GTR:AN0255485 {source="UMLS:CN034406"} xref: NCIT:C122798 {source="MONDO:equivalentTo"} xref: SCTID:236381000 {source="MONDO:equivalentTo"} xref: UMLS:CN034406 {source="MONDO:equivalentTo"} -is_a: MONDO:0005377 {source="linkedlife"} ! nephrotic syndrome +is_a: MONDO:0005377 {source="NCIT:C122798", source="linkedlifedata"} ! nephrotic syndrome [Term] id: MONDO:0044766 @@ -408339,7 +414127,7 @@ xref: ONCOTREE:NLPHL {source="MONDO:equivalentTo"} xref: Orphanet:86893 {source="MONDO:equivalentTo"} xref: UMLS:C1334968 {source="ORDO:86893/e", source="Orphanet:86893", source="MONDO:equivalentTo"} xref: UMLS:C2239290 {source="ORDO:86893/e", source="Orphanet:86893"} -is_a: MONDO:0004952 {source="NCIT:C7258", source="ONCOTREE:NLPHL"} ! Hodgkins lymphoma +is_a: MONDO:0004952 {source="NCIT:C7258", source="ONCOTREE:NLPHL", source="Orphanet:86893"} ! Hodgkins lymphoma relationship: disease_has_feature MONDO:0043346 {source="NCIT:C7258"} ! progressive transformation of germinal centers [Term] @@ -408352,7 +414140,7 @@ synonym: "steroid-sensitive nephrotic syndrome" EXACT [NCIT:C122797] xref: NCIT:C122797 {source="MONDO:equivalentTo"} xref: SCTID:236380004 {source="MONDO:equivalentTo"} xref: UMLS:C0403396 {source="MONDO:equivalentTo"} -is_a: MONDO:0005377 {source="NCIT:C122797"} ! nephrotic syndrome +is_a: MONDO:0005377 {source="NCIT:C122797", source="linkedlifedata"} ! nephrotic syndrome is_a: MONDO:0044765 ! steroid-resistant nephrotic syndrome [Term] @@ -408361,9 +414149,11 @@ name: esophageal ulcer def: "An ulcerated lesion in the esophageal wall." [NCIT:C26950] synonym: "esophageal ulcer" EXACT [NCIT:C26950] synonym: "esophagus ulcer" EXACT [] +synonym: "esophagus ulcer disease" EXACT [MONDO:design_pattern] +synonym: "ulcer disease of esophagus" EXACT [MONDO:design_pattern] xref: HP:0004791 {source="MONDO:otherHierarchy"} xref: NCIT:C26950 {source="MONDO:equivalentTo"} -is_a: MONDO:0003749 ! esophageal disease +is_a: MONDO:0003749 {source="NCIT:C26950/inferred"} ! esophageal disease intersection_of: MONDO:0043839 ! ulcer disease intersection_of: disease_has_location UBERON:0001043 ! esophagus @@ -408388,7 +414178,7 @@ xref: NCIT:C6577 {source="ONCOTREE:MYXO", source="MONDO:equivalentTo"} xref: ONCOTREE:MYXO {source="MONDO:equivalentTo"} xref: SCTID:404082003 {source="MONDO:equivalentTo"} xref: UMLS:C0027149 {source="ONCOTREE:MYXO"} -is_a: MONDO:0044335 ! benign soft tissue neoplasm +is_a: MONDO:0044335 {source="NCIT:C6577/inferred"} ! benign soft tissue neoplasm [Term] id: MONDO:0044785 @@ -408442,10 +414232,12 @@ is_a: MONDO:0003210 {source="NCIT:C96804"} ! intrahepatic cholangiocarcinoma id: MONDO:0044789 name: digital papillary eccrine carcinoma def: "An adenocarcinoma arising from the sweat glands. Most cases present as nodular lesions on the digits, usually in the hands. It is characterized by the presence of epithelial cells in the dermis forming nodules. Cystic structures containing papillary projections are also present. It may recur and metastasize, most commonly to the lungs." [NCIT:C27534] +synonym: "digit papillary eccrine carcinoma" EXACT [MONDO:design_pattern] synonym: "digital papillary carcinoma" EXACT [NCIT:C27534] synonym: "digital papillary carcinoma of skin" EXACT [] synonym: "digital papillary eccrine carcinoma" EXACT [NCIT:C27534] synonym: "papillary digital eccrine carcinoma" EXACT [NCIT:C27534] +synonym: "papillary eccrine carcinoma of digit" EXACT [MONDO:design_pattern] xref: NCIT:C27534 {source="MONDO:equivalentTo"} is_a: MONDO:0003531 {source="NCIT:C27534"} ! papillary eccrine carcinoma intersection_of: MONDO:0003531 ! papillary eccrine carcinoma @@ -408472,7 +414264,7 @@ synonym: "liver and intrahepatic biliary tract carcinoma" EXACT [NCIT:C3828] synonym: "Mixed hepatocellular cholangiocarcinoma" EXACT [NCIT:C3828] xref: NCIT:C3828 {source="MONDO:equivalentTo"} xref: SCTID:274902006 {source="MONDO:equivalentTo"} -is_a: MONDO:0004970 {source="NCIT:C3828"} ! adenocarcinoma +is_a: MONDO:0004970 {source="NCIT:C3828", source="linkedlifedata/inferred"} ! adenocarcinoma is_a: MONDO:0018531 {source="NCIT:C3828"} ! carcinoma of liver and intrahepatic biliary tract [Term] @@ -408505,7 +414297,7 @@ xref: UMLS:C0206739 {source="OMIM:137550"} xref: UMLS:C0346099 {source="OMIM:137550"} xref: UMLS:C1318558 {source="ORDO:626/e", source="Orphanet:626", source="MONDO:equivalentTo"} xref: UMLS:C1842036 {source="NCBI:mim2gene_medline", source="OMIM:137550", source="ORDO:626/e", source="Orphanet:626", source="MONDO:equivalentTo"} -is_a: MONDO:0005073 {source="NCIT:C3944"} ! melanocytic nevus +is_a: MONDO:0005073 {source="NCIT:C3944", source="linkedlifedata"} ! melanocytic nevus is_a: MONDO:0015950 {source="Orphanet:626"} ! inherited skin tumor is_a: MONDO:0017414 {source="Orphanet:626"} ! rare nevus is_a: MONDO:0021583 {source="NCIT:C3944"} ! melanocytic skin neoplasm @@ -408616,10 +414408,10 @@ synonym: "idiopathic torsion dystonia" RELATED [] synonym: "primary torsion dystonia" EXACT [] synonym: "Schwalbe disease" RELATED [] synonym: "Ziehen-oppenheim disease" RELATED [] -xref: ICD9:333.6 {source="linkedlife"} +xref: ICD9:333.6 {source="linkedlifedata"} xref: NCIT:C34564 {source="MONDO:equivalentTo"} xref: SCTID:22451001 {source="MONDO:equivalentTo"} -is_a: MONDO:0003441 {source="NCIT:C34564", source="linkedlife"} ! dystonic disorder +is_a: MONDO:0003441 {source="NCIT:C34564", source="linkedlifedata"} ! dystonic disorder [Term] id: MONDO:0044816 @@ -408630,7 +414422,7 @@ synonym: "idiopathic familial dystonia" EXACT [] xref: NCIT:C35437 {source="MONDO:equivalentTo"} xref: SCTID:230318005 {source="MONDO:equivalentTo"} is_a: MONDO:0044807 {source="NCIT:C35437"} ! inherited dystonia -is_a: MONDO:0044811 {source="NCIT:C35437", source="linkedlife"} ! idiopathic torsion dystonia +is_a: MONDO:0044811 {source="NCIT:C35437", source="linkedlifedata"} ! idiopathic torsion dystonia intersection_of: MONDO:0044811 ! idiopathic torsion dystonia intersection_of: has_modifier MONDO:0021152 ! genetic and inherited @@ -408641,7 +414433,7 @@ synonym: "idiopathic non-familial dystonia" EXACT [] synonym: "non-Familial Idiopathic Dystonia" EXACT [NCIT:C35438] xref: NCIT:C35438 {source="MONDO:equivalentTo"} xref: SCTID:230321007 {source="MONDO:equivalentTo"} -is_a: MONDO:0044811 {source="NCIT:C35438", source="linkedlife"} ! idiopathic torsion dystonia +is_a: MONDO:0044811 {source="NCIT:C35438", source="linkedlifedata"} ! idiopathic torsion dystonia intersection_of: MONDO:0044811 ! idiopathic torsion dystonia intersection_of: has_modifier MONDO:0021141 ! acquired @@ -408650,7 +414442,7 @@ id: MONDO:0044843 name: torsion dystonia synonym: "torsion dystonia" EXACT [] xref: SCTID:431034009 {source="MONDO:equivalentTo"} -is_a: MONDO:0003441 {source="linkedlife"} ! dystonic disorder +is_a: MONDO:0003441 {source="linkedlifedata"} ! dystonic disorder [Term] id: MONDO:0044870 @@ -408674,7 +414466,7 @@ synonym: "task-specific Dystonia" RELATED [MESH:C566973] synonym: "task-specific focal Dystonia" RELATED [MESH:C566973] xref: MESH:C566973 {source="MONDO:equivalentTo"} xref: SCTID:230330004 {source="MONDO:equivalentTo"} -is_a: MONDO:0003441 {source="MESH:C566973", source="linkedlife"} ! dystonic disorder +is_a: MONDO:0003441 {source="MESH:C566973", source="linkedlifedata"} ! dystonic disorder [Term] id: MONDO:0044872 @@ -408702,7 +414494,7 @@ synonym: "RCC" EXACT [NCIT:C82596] synonym: "refractory cytopenia of childhood" EXACT [NCIT:C82596] xref: NCIT:C82596 {source="MONDO:equivalentTo"} xref: ONCOTREE:RCYC {source="MONDO:equivalentTo"} -is_a: MONDO:0018881 {source="ONCOTREE:RCYC"} ! myelodysplastic syndrome +is_a: MONDO:0018881 {source="NCIT:C82596/inferred", source="ONCOTREE:RCYC"} ! myelodysplastic syndrome is_a: MONDO:0044873 {source="NCIT:C82596"} ! childhood myelodysplastic syndrome [Term] @@ -408744,6 +414536,7 @@ name: adult germ cell tumor def: "A germ cell tumor that occurs during adulthood." [NCIT:C114777] synonym: "Adult germ cell tumor" EXACT [NCIT:C114777] synonym: "germ cell tumor" EXACT [NCIT:C114777] +synonym: "germ cell tumor of adults" EXACT [MONDO:design_pattern] xref: NCIT:C114777 {source="MONDO:equivalentTo"} is_a: MONDO:0005040 {source="NCIT:C114777"} ! germ cell tumor intersection_of: MONDO:0005040 ! germ cell tumor @@ -408836,6 +414629,7 @@ id: MONDO:0044887 name: central nervous system non-hodgkin lymphoma def: "A non-Hodgkin lymphoma that arises from the central nervous system." [NCIT:C114779] synonym: "Central Nervous System Non-Hodgkin Lymphoma" EXACT [NCIT:C114779] +synonym: "non-Hodgkin lymphoma of central nervous system" EXACT [MONDO:design_pattern] synonym: "Primary Central Nervous System Non-Hodgkin Lymphoma" EXACT [NCIT:C114779] xref: NCIT:C114779 {source="MONDO:equivalentTo"} xref: UMLS:C2213246 {source="MONDO:equivalentTo"} @@ -408891,7 +414685,7 @@ synonym: "Metastatic Squamous Cell Carcinoma" EXACT [NCIT:C4104] xref: NCIT:C4104 {source="MONDO:equivalentTo"} xref: SCTID:403906006 {source="MONDO:equivalentTo"} xref: UMLS:C0334246 {source="MONDO:equivalentTo"} -is_a: MONDO:0005096 {source="NCIT:C4104"} ! squamous cell carcinoma +is_a: MONDO:0005096 {source="NCIT:C4104", source="linkedlifedata"} ! squamous cell carcinoma is_a: MONDO:0024879 {source="NCIT:C4104"} ! metastatic carcinoma intersection_of: MONDO:0005096 ! squamous cell carcinoma intersection_of: has_modifier PATO:0002098 ! neoplastic, metastatic @@ -408979,7 +414773,7 @@ xref: NCIT:C6919 {source="MONDO:equivalentTo"} xref: SCTID:421246008 {source="MONDO:equivalentTo"} is_a: MONDO:0000873 {source="NCIT:C6919"} ! lymphoblastic lymphoma is_a: MONDO:0003537 {source="NCIT:C6919"} ! precursor T-lymphoblastic lymphoma/leukemia -is_a: MONDO:0015760 {source="NCIT:C6919"} ! T-cell non-Hodgkin lymphoma +is_a: MONDO:0015760 {source="NCIT:C6919", source="linkedlifedata"} ! T-cell non-Hodgkin lymphoma [Term] id: MONDO:0044919 @@ -409018,7 +414812,7 @@ synonym: "NPMc+ AML" EXACT [NCIT:C82431] xref: NCIT:C82431 {source="MONDO:equivalentTo"} xref: ONCOTREE:AMLNPM1 {source="MONDO:equivalentTo"} xref: UMLS:C2826177 {source="MONDO:equivalentTo"} -is_a: MONDO:0018874 {source="NCIT:C82430"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="NCIT:C82430", source="NCIT:C82431/inferred", source="ONCOTREE:AMLNPM1/inferred"} ! acute myeloid leukemia [Term] id: MONDO:0044924 @@ -409028,7 +414822,7 @@ synonym: "Acute Myeloid Leukemia with Mutated CEBPA" EXACT [NCIT:C82433] synonym: "AML with Mutated CEBPA" EXACT [NCIT:C82433] xref: NCIT:C82433 {source="MONDO:equivalentTo"} xref: UMLS:C2826178 {source="MONDO:equivalentTo"} -is_a: MONDO:0018874 {source="NCIT:C82430"} ! acute myeloid leukemia +is_a: MONDO:0018874 {source="NCIT:C82430", source="NCIT:C82433/inferred"} ! acute myeloid leukemia [Term] id: MONDO:0044925 @@ -409118,22 +414912,30 @@ intersection_of: disease_has_location UBERON:0000167 ! oral cavity [Term] id: MONDO:0044965 name: abdominal and pelvic region disorder +def: "A disease or disorder that involves the abdominal segment of trunk." [MONDO:design_pattern] +synonym: "abdominal segment of trunk disease" EXACT [MONDO:design_pattern] +synonym: "abdominal segment of trunk disease or disorder" EXACT [MONDO:design_pattern] +synonym: "disease of abdominal segment of trunk" EXACT [MONDO:design_pattern] synonym: "disorder of abdominal segment of trunk" EXACT [] xref: SCTID:609618002 {source="MONDO:equivalentTo"} xref: UMLS:C3661988 {source="MONDO:equivalentTo"} -is_a: MONDO:0024505 {source="MONDO:grouping", source="MONDO:metaclass"} ! disorder by anatomical region +is_a: MONDO:0024505 {source="MONDO:grouping", source="MONDO:metaclass", source="linkedlifedata/inferred"} ! disorder by anatomical region intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002417 ! abdominal segment of trunk [Term] id: MONDO:0044967 name: limb disorder +def: "A disease or disorder that involves the limb." [MONDO:design_pattern] +synonym: "disease of limb" EXACT [MONDO:design_pattern] synonym: "disorder of extremity" EXACT [] synonym: "disorder of limb" EXACT [] +synonym: "limb disease" EXACT [MONDO:design_pattern] +synonym: "limb disease or disorder" EXACT [MONDO:design_pattern] xref: ICD9:V49.1 xref: SCTID:128605003 {source="MONDO:equivalentTo"} xref: UMLS:C1290877 {source="MONDO:equivalentTo"} -is_a: MONDO:0024505 {source="MONDO:grouping", source="MONDO:metaclass"} ! disorder by anatomical region +is_a: MONDO:0024505 {source="MONDO:grouping", source="MONDO:metaclass", source="linkedlifedata"} ! disorder by anatomical region intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0002101 ! limb @@ -409161,10 +414963,13 @@ intersection_of: disease_has_basis_in_dysfunction_of GO:0032991 ! protein-contai [Term] id: MONDO:0044972 name: eosinophil disease +def: "A disease or disorder that involves the eosinophil." [MONDO:design_pattern] +synonym: "disease of eosinophil" EXACT [MONDO:design_pattern] synonym: "disorder of eosinophil" EXACT [] +synonym: "eosinophil disease or disorder" EXACT [MONDO:design_pattern] xref: SCTID:417967008 {source="MONDO:equivalentTo"} xref: UMLS:C1691020 {source="MONDO:equivalentTo"} -is_a: MONDO:0004805 ! leukocyte disease +is_a: MONDO:0004805 {source="linkedlifedata"} ! leukocyte disease is_a: MONDO:0021197 {source="MONDO:metaclass"} ! disease by cellular component affected is_a: MONDO:0044979 {source="MONDO:metaclass"} ! disease by cell type intersection_of: MONDO:0000001 ! disease or disorder @@ -409225,9 +415030,9 @@ intersection_of: disease_disrupts GO:0007165 ! signal transduction id: MONDO:0044981 name: pseudoallergy synonym: "pseudoallergy to substance" EXACT [] -xref: ICD9:V15.09 {source="linkedlife"} +xref: ICD9:V15.09 {source="linkedlifedata"} xref: SCTID:609397002 {source="MONDO:equivalentTo"} -is_a: MONDO:0000605 ! hypersensitivity reaction disease +is_a: MONDO:0000605 {source="linkedlifedata/inferred"} ! hypersensitivity reaction disease [Term] id: MONDO:0044982 @@ -409243,8 +415048,10 @@ intersection_of: realized_in_response_to_stimulus ECTO:0000509 ! exposure to dru id: MONDO:0044983 name: benign lipomatous neoplasm def: "A benign mesenchymal neoplasm composed of adipose (fatty) tissue. The most common representative of this category is the lipoma." [NCIT:C4502] +synonym: "adipose tissue benign connective and soft tissue neoplasm" EXACT [MONDO:design_pattern] synonym: "Benign Adipose Tissue Neoplasm" EXACT [NCIT:C4502] synonym: "Benign Adipose Tissue Tumor" EXACT [NCIT:C4502] +synonym: "benign connective and soft tissue neoplasm of adipose tissue" EXACT [MONDO:design_pattern] synonym: "Benign Lipomatous Neoplasm" EXACT [NCIT:C4502] synonym: "Benign Lipomatous Tumor" EXACT [NCIT:C4502] synonym: "Benign Neoplasm of Adipose Tissue" EXACT [NCIT:C4502] @@ -409287,11 +415094,14 @@ intersection_of: disease_has_location UBERON:0001456 ! face [Term] id: MONDO:0044988 name: hip region disease +def: "A disease or disorder that involves the hip." [MONDO:design_pattern] +synonym: "disease of hip" EXACT [MONDO:design_pattern] synonym: "disorder of hip" EXACT [MONDO:design_pattern] synonym: "disorder of hip region" EXACT [MONDO:design_pattern] synonym: "hip disease" EXACT [MONDO:design_pattern] +synonym: "hip disease or disorder" EXACT [MONDO:design_pattern] xref: SCTID:118935006 {source="MONDO:equivalentTo"} -is_a: MONDO:0024505 {source="MONDO:metaclass"} ! disorder by anatomical region +is_a: MONDO:0024505 {source="MONDO:metaclass", source="linkedlifedata/inferred"} ! disorder by anatomical region intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0001464 ! hip @@ -409420,31 +415230,34 @@ intersection_of: disease_has_location UBERON:0001300 ! scrotum [Term] id: MONDO:0045004 name: skeletal ligament disease -synonym: "disorder of ligament" BROAD [MONDO:design_pattern] -synonym: "ligament disease" BROAD [MONDO:design_pattern] -xref: SCTID:60492000 {source="MONDO:equivalentTo"} intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0008846 ! skeletal ligament [Term] id: MONDO:0045008 name: cholesterol metabolism disease +def: "A disease that has its basis in the disruption of cholesterol metabolic process." [MONDO:design_pattern] comment: Examples: disorder of cholesterol catabolism (disorder), disorder of cholesterol synthesis (disorder) +synonym: "cholesterol metabolic process disease" EXACT [MONDO:design_pattern] synonym: "cholesterol metabolism disease" EXACT [MONDO:design_pattern] +synonym: "disorder of cholesterol metabolic process" EXACT [MONDO:design_pattern] synonym: "disorder of cholesterol metabolism" EXACT [MONDO:design_pattern] xref: SCTID:123963007 {source="MONDO:equivalentTo"} -is_a: MONDO:0002525 ! inherited lipid metabolism disorder +is_a: MONDO:0002525 {source="linkedlifedata"} ! inherited lipid metabolism disorder intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0008203 ! cholesterol metabolic process [Term] id: MONDO:0045010 name: glycoprotein metabolism disease +def: "A disease that has its basis in the disruption of glycoprotein metabolic process." [MONDO:design_pattern] comment: Examples: alpha-n-acetylgalactosaminidase deficiency (disorder), carbohydrate-deficient glycoprotein syndrome (disorder), alpha-1-antitrypsin deficiency (disorder), alpha-2-antitrypsin deficiency (disorder), sialidosis (disorder), aspartylglucosaminuria (disorder), fucosidosis (disorder), mannosidosis (disorder), i-cell disease (disorder), glycoprotein storage disorder (disorder) +synonym: "disorder of glycoprotein metabolic process" EXACT [MONDO:design_pattern] synonym: "disorder of glycoprotein metabolism" EXACT [MONDO:design_pattern] +synonym: "glycoprotein metabolic process disease" EXACT [MONDO:design_pattern] synonym: "glycoprotein metabolism disease" EXACT [MONDO:design_pattern] xref: SCTID:238045003 {source="MONDO:equivalentTo"} -is_a: MONDO:0019052 ! inborn errors of metabolism +is_a: MONDO:0019052 {source="linkedlifedata"} ! inborn errors of metabolism intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0009100 ! glycoprotein metabolic process @@ -409454,17 +415267,20 @@ name: keratinization disease synonym: "disorder of keratinization" EXACT [MONDO:design_pattern] synonym: "keratinization disease" EXACT [MONDO:design_pattern] xref: SCTID:277905003 {source="MONDO:equivalentTo"} -is_a: MONDO:0045027 ! disorder of integumental system +is_a: MONDO:0002051 {source="linkedlifedata"} ! integumentary system disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_disrupts GO:0031424 ! keratinization [Term] id: MONDO:0045012 name: steroid metabolism disease +def: "A disease that has its basis in the disruption of steroid metabolic process." [MONDO:design_pattern] +synonym: "disorder of steroid metabolic process" EXACT [MONDO:design_pattern] synonym: "disorder of steroid metabolism" EXACT [MONDO:design_pattern] +synonym: "steroid metabolic process disease" EXACT [MONDO:design_pattern] synonym: "steroid metabolism disease" EXACT [MONDO:design_pattern] xref: SCTID:28710006 {source="MONDO:equivalentTo"} -is_a: MONDO:0005066 ! metabolic disease +is_a: MONDO:0005066 {source="linkedlifedata"} ! metabolic disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0008202 ! steroid metabolic process @@ -409478,54 +415294,59 @@ intersection_of: disease_has_location UBERON:0005631 ! extraembryonic membrane [Term] id: MONDO:0045014 name: tetrahydrobiopterin metabolic process disease +def: "A disease that has its basis in the disruption of tetrahydrobiopterin metabolic process." [MONDO:design_pattern] synonym: "disorder of tetrahydrobiopterin metabolic process" EXACT [MONDO:design_pattern] synonym: "disorder of tetrahydrobiopterin metabolism" EXACT [MONDO:design_pattern] synonym: "tetrahydrobiopterin metabolism disease" EXACT [MONDO:design_pattern] xref: SCTID:237913008 {source="MONDO:equivalentTo"} -is_a: MONDO:0017306 ! disorder of phenylalanine metabolism +is_a: MONDO:0017306 {source="linkedlifedata"} ! disorder of phenylalanine metabolism intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0046146 ! tetrahydrobiopterin metabolic process [Term] id: MONDO:0045015 name: carbohydrate transport disease +def: "A disease that has its basis in the disruption of carbohydrate transport." [MONDO:design_pattern] synonym: "carbohydrate transport disease" EXACT [MONDO:design_pattern] synonym: "disorder of carbohydrate transport" EXACT [MONDO:design_pattern] xref: SCTID:54905006 {source="MONDO:equivalentTo"} -is_a: MONDO:0037792 ! carbohydrate metabolism disease +is_a: MONDO:0037792 {source="linkedlifedata"} ! carbohydrate metabolism disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0008643 ! carbohydrate transport [Term] id: MONDO:0045016 name: cholesterol catabolic process disease +def: "A disease that has its basis in the disruption of cholesterol catabolic process." [MONDO:design_pattern] synonym: "cholesterol catabolism disease" EXACT [MONDO:design_pattern] synonym: "disorder of cholesterol catabolic process" EXACT [MONDO:design_pattern] synonym: "disorder of cholesterol catabolism" EXACT [MONDO:design_pattern] xref: SCTID:238032002 {source="MONDO:equivalentTo"} -is_a: MONDO:0045008 ! cholesterol metabolism disease +is_a: MONDO:0045008 {source="linkedlifedata"} ! cholesterol metabolism disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0006707 ! cholesterol catabolic process [Term] id: MONDO:0045017 name: cholesterol biosynthetic process disease +def: "A disease that has its basis in the disruption of cholesterol biosynthetic process." [MONDO:design_pattern] synonym: "cholesterol synthesis disease" EXACT [MONDO:design_pattern] synonym: "disorder of cholesterol biosynthetic process" EXACT [MONDO:design_pattern] synonym: "disorder of cholesterol synthesis" EXACT [MONDO:design_pattern] xref: SCTID:238036004 {source="MONDO:equivalentTo"} -is_a: MONDO:0045008 ! cholesterol metabolism disease +is_a: MONDO:0045008 {source="linkedlifedata"} ! cholesterol metabolism disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0006695 ! cholesterol biosynthetic process [Term] id: MONDO:0045018 name: creatine biosynthetic process disease +def: "A disease that has its basis in the disruption of creatine biosynthetic process." [MONDO:design_pattern] synonym: "creatine synthesis disease" EXACT [MONDO:design_pattern] synonym: "disorder of creatine biosynthetic process" EXACT [MONDO:design_pattern] synonym: "disorder of creatine synthesis" EXACT [MONDO:design_pattern] xref: SCTID:297226004 {source="MONDO:equivalentTo"} -is_a: MONDO:0037871 ! amino acid metabolism disease +is_a: MONDO:0037871 {source="linkedlifedata"} ! amino acid metabolism disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0006601 ! creatine biosynthetic process @@ -409535,15 +415356,17 @@ name: lactation disease synonym: "disorder of lactation" EXACT [MONDO:design_pattern] synonym: "lactation disease" EXACT [MONDO:design_pattern] xref: SCTID:35046003 {source="MONDO:equivalentTo"} -is_a: MONDO:0002657 ! breast disease +is_a: MONDO:0002657 {source="linkedlifedata"} ! breast disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_disrupts GO:0007595 ! lactation [Term] id: MONDO:0045020 name: glycine metabolism disease +def: "A disease that has its basis in the disruption of glycine metabolic process." [MONDO:design_pattern] synonym: "disorder of glycine metabolic process" EXACT [MONDO:design_pattern] synonym: "disorder of glycine metabolism" EXACT [MONDO:design_pattern] +synonym: "glycine metabolic process disease" EXACT [MONDO:design_pattern] synonym: "glycine metabolism disease" EXACT [MONDO:design_pattern] xref: SCTID:83076007 {source="MONDO:equivalentTo"} is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted @@ -409554,18 +415377,21 @@ intersection_of: disease_has_basis_in_disruption_of GO:0006544 ! glycine metabol id: MONDO:0045021 name: sucrose intolerance disease synonym: "sucrose intolerance" EXACT [] -xref: ICD9:271.3 {source="linkedlife"} +xref: ICD9:271.3 {source="linkedlifedata"} xref: SCTID:190753003 {source="MONDO:equivalentTo"} -is_a: MONDO:0004905 {source="linkedlife"} ! intestinal disaccharidase deficiency +is_a: MONDO:0004905 {source="linkedlifedata"} ! intestinal disaccharidase deficiency [Term] id: MONDO:0045022 name: disorder of organic acid metabolism +def: "A disease that has its basis in the disruption of organic acid metabolic process." [MONDO:design_pattern] +synonym: "disorder of organic acid metabolic process" EXACT [MONDO:design_pattern] synonym: "disorder of organic acid metabolism" EXACT [] +synonym: "organic acid metabolic process disease" EXACT [MONDO:design_pattern] synonym: "organic acid metabolism disorder" EXACT [] -xref: ICD9:277.89 {source="linkedlife"} +xref: ICD9:277.89 {source="linkedlifedata"} xref: SCTID:116021002 {source="MONDO:equivalentTo"} -is_a: MONDO:0005066 {source="linkedlife"} ! metabolic disease +is_a: MONDO:0005066 {source="linkedlifedata"} ! metabolic disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_basis_in_disruption_of GO:0006082 ! organic acid metabolic process @@ -409586,15 +415412,7 @@ intersection_of: disease_disrupts GO:0008283 ! cell proliferation union_of: MONDO:0005043 ! hyperplasia union_of: MONDO:0021074 ! precancerous condition union_of: MONDO:0023370 ! neoplastic disease or syndrome - -[Term] -id: MONDO:0045027 -name: disorder of integumental system -synonym: "disorder of integument" RELATED [] -xref: SCTID:128598002 {source="MONDO:equivalentTo"} -is_a: MONDO:0024505 {source="MONDO:metaclass"} ! disorder by anatomical region -intersection_of: MONDO:0000001 ! disease or disorder -intersection_of: disease_has_location UBERON:0002416 ! integumental system +union_of: MONDO:0045054 ! cancer-related condition [Term] id: MONDO:0045028 @@ -409603,6 +415421,310 @@ is_a: MONDO:0000001 ! disease or disorder union_of: MONDO:0029001 ! chemically-induced disorder union_of: MONDO:0043459 ! radiation-induced disorder +[Term] +id: MONDO:0045029 +name: obsolete Deuteromycetes infectious disease +synonym: "infection by Deuteromycetes" EXACT [] +synonym: "infection caused by Deuteromycetes" RELATED [] +xref: SCTID:59258008 {source="MONDO:obsoleteEquivalent"} +is_obsolete: true +consider: MONDO:0002041 + +[Term] +id: MONDO:0045030 +name: non-infectious diarrheal disease +synonym: "non-infective diarrhea" EXACT [] +synonym: "presumed non-infectious diarrhea" RELATED [] +xref: SCTID:69980003 {source="MONDO:equivalentTo"} +is_a: MONDO:0001673 {source="linkedlifedata"} ! diarrheal disease +disjoint_from: MONDO:0045031 ! infectious diarrheal disease + +[Term] +id: MONDO:0045031 +name: infectious diarrheal disease +synonym: "infectious diarrhea" RELATED [] +synonym: "infectious diarrheal disease" EXACT [] +synonym: "infective diarrhea" RELATED [] +xref: SCTID:19213003 {source="MONDO:equivalentTo"} +intersection_of: MONDO:0001673 ! diarrheal disease +intersection_of: MONDO:0005550 ! infectious disease + +[Term] +id: MONDO:0045032 +name: congenital secretory diarrhea +synonym: "congenital secretory diarrhea" EXACT [] +xref: ICD9:579.8 {source="linkedlifedata"} +xref: SCTID:25898005 {source="MONDO:equivalentTo"} +intersection_of: MONDO:0000249 ! secretory diarrhea +intersection_of: MONDO:0000824 ! congenital diarrhea + +[Term] +id: MONDO:0045033 +name: opportunistic systemic mycosis +def: "A mycosis that arises from infection in an immunologically compromised host and is systemic." [https://www.ncbi.nlm.nih.gov/books/NBK7902] +intersection_of: MONDO:0000256 ! systemic mycosis +intersection_of: has_modifier MONDO:0045035 ! opportunistic infectious + +[Term] +id: MONDO:0045034 +name: infectious disease characteristic +is_a: MONDO:0021125 ! disease characteristic + +[Term] +id: MONDO:0045035 +name: opportunistic infectious +def: "A characteristic of an infectious disease in which the disease affects an immunologically compromised host." [https://www.ncbi.nlm.nih.gov/books/NBK7902] +is_a: MONDO:0045034 ! infectious disease characteristic + +[Term] +id: MONDO:0045036 +name: primary infectious +def: "A characteristic of an infectious disease in which the disease affects an immunologically normal host." [https://www.ncbi.nlm.nih.gov/books/NBK7902] +is_a: MONDO:0045034 ! infectious disease characteristic + +[Term] +id: MONDO:0045037 +name: hyalohyphomycosis +def: "An opportunistic fungal infection caused by any of a variety of normally saprophytic fungi with hyaline hyphal elements. For example, Fusarium spp. infect neutropenic patients to cause pneumonia, fungemia, and disseminated infection with cutaneous lesions." [https://www.ncbi.nlm.nih.gov/books/NBK7902/] +synonym: "hyalohyphomycosis" EXACT [] +xref: SCTID:240773008 {source="MONDO:equivalentTo"} +is_a: MONDO:0002041 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/", source="linkedlifedata"} ! fungal infectious disease +relationship: has_modifier MONDO:0045035 {source="https://www.ncbi.nlm.nih.gov/books/NBK7902/"} ! opportunistic infectious + +[Term] +id: MONDO:0045038 +name: cutaneous basidiobolomycosis +xref: SCTID:240786004 {source="MONDO:equivalentTo"} +intersection_of: MONDO:0000302 ! basidiobolomycosis +intersection_of: disease_has_location UBERON:0002416 ! integumental system + +[Term] +id: MONDO:0045039 +name: systemic basidiobolomycosis +synonym: "disseminated basidiobolomycosis" EXACT [] +xref: SCTID:240787008 {source="MONDO:equivalentTo"} +is_a: MONDO:0000302 {source="linkedlifedata"} ! basidiobolomycosis + +[Term] +id: MONDO:0045040 +name: locational disease characteristic +is_a: MONDO:0021125 ! disease characteristic + +[Term] +id: MONDO:0045042 +name: localized +is_a: MONDO:0045040 ! locational disease characteristic + +[Term] +id: MONDO:0045043 +name: disease of uterine broad ligament +synonym: "disorder of broad ligament" EXACT [] +xref: SCTID:237062006 {source="MONDO:equivalentTo"} +intersection_of: MONDO:0000001 ! disease or disorder +intersection_of: disease_has_location UBERON:0012332 ! broad ligament of uterus + +[Term] +id: MONDO:0045044 +name: ligament disease +xref: SCTID:60492000 {source="MONDO:equivalentTo"} +intersection_of: MONDO:0000001 ! disease or disorder +intersection_of: disease_has_location UBERON:0000211 ! ligament + +[Term] +id: MONDO:0045045 +name: selective IgG immunodeficiency +def: "A broad classification of dysgammaglobulinemias characterized by low or undetectable serum levels of immunoglobulin class G (IgG). Deficiencies of IgG present variably according to subclass. IgG deficiencies are typically relative among subclasses and not absolute. Thus even with a given selective IgG subclass deficiency, total IgG levels may still fall within normal range. The clinical course and prognosis is dependent upon the severity of the deficiency and associated morbidity." [NCIT:C27142] +synonym: "Selective IgG Immunodeficiency" EXACT [NCIT:C27142] +xref: NCIT:C27142 {source="MONDO:equivalentTo"} +is_a: MONDO:0001342 ! dysgammaglobulinemia (disease) +is_a: MONDO:0003739 {source="NCIT:C27142"} ! selective immunoglobulin deficiency disease + +[Term] +id: MONDO:0045046 +name: inherited thyroid metabolism disease +synonym: "inherited disorder of thyroid metabolism" EXACT [SCTID:36985004] +xref: ICD9:246.8 +xref: SCTID:36985004 {source="MONDO:equivalentTo"} +is_a: MONDO:0003240 {source="linkedlifedata"} ! thyroid gland disease +intersection_of: MONDO:0019052 ! inborn errors of metabolism +intersection_of: disease_has_basis_in_disruption_of GO:0042403 ! thyroid hormone metabolic process + +[Term] +id: MONDO:0045047 +name: neurosarcoidosis +synonym: "neurosarcoidosis" EXACT [] +xref: SCTID:230193008 {source="MONDO:equivalentTo"} +intersection_of: MONDO:0019338 ! sarcoidosis +intersection_of: disease_has_location UBERON:0001016 ! nervous system + +[Term] +id: MONDO:0045048 +name: toxemia of pregnancy +def: "A pregnancy induced hypertensive state that occurs after 20 weeks of gestation characterized by an increase in blood pressure, along with body swelling and proteinuria." [NCIT:C34943] +synonym: "Toxemia of Pregnancy" EXACT [NCIT:C34943] +xref: NCIT:C34943 {source="MONDO:equivalentTo"} +is_a: MONDO:0024664 {source="NCIT:C34943"} ! hypertension, pregnancy-induced + +[Term] +id: MONDO:0045049 +name: hypermature cataract +synonym: "hypermature cataract" EXACT [] +xref: ICD9:366.18 {source="linkedlifedata"} +xref: SCTID:267626000 {source="MONDO:equivalentTo"} +is_a: MONDO:0005129 {source="linkedlifedata"} ! cataract (disease) + +[Term] +id: MONDO:0045050 +name: nuclear cataract +def: "A cataract (disease) that involves the lens nucleus." [MONDO:design_pattern] +xref: HP:0100018 +xref: ICD9:366.04 {source="linkedlifedata"} +xref: SCTID:53889007 {source="MONDO:equivalentTo"} +is_a: MONDO:0005129 {source="linkedlifedata"} ! cataract (disease) +intersection_of: MONDO:0005129 ! cataract (disease) +intersection_of: disease_has_location UBERON:0000390 ! lens nucleus + +[Term] +id: MONDO:0045051 +name: cortical cataract +xref: ICD9:366.03 {source="linkedlifedata"} +xref: SCTID:193576003 {source="MONDO:equivalentTo"} +intersection_of: MONDO:0005129 ! cataract (disease) +intersection_of: disease_has_location UBERON:0000389 ! lens cortex + +[Term] +id: MONDO:0045052 +name: benign osteogenic neoplasm +def: "A non-metastasizing bone-forming neoplasm. This category includes osteoma, osteoid osteoma, and osteoblastoma." [NCIT:C6602] +synonym: "Benign osseous neoplasm" EXACT [NCIT:C6602] +synonym: "Benign osseous tumor" EXACT [NCIT:C6602] +synonym: "Benign osteogenic neoplasm" EXACT [NCIT:C6602] +synonym: "Benign osteogenic tumor" EXACT [NCIT:C6602] +xref: NCIT:C6602 {source="MONDO:equivalentTo"} +xref: UMLS:C1332523 {source="NCIT:C6602"} +is_a: MONDO:0000654 {source="NCIT:C6602"} ! benign connective and soft tissue neoplasm +is_a: MONDO:0045053 {source="NCIT:C6602"} ! osteogenic neoplasm +intersection_of: MONDO:0045053 ! osteogenic neoplasm +intersection_of: has_modifier PATO:0002096 ! neoplastic, non-malignant + +[Term] +id: MONDO:0045053 +name: osteogenic neoplasm +def: "A benign, intermediate, or malignant bone-forming neoplasm. Representative examples include osteoma, osteoblastoma, and osteosarcoma." [NCIT:C6603] +synonym: "osseous neoplasm" EXACT [NCIT:C6603] +synonym: "osseous tumor" EXACT [NCIT:C6603] +synonym: "osteogenic neoplasm" EXACT [NCIT:C6603] +synonym: "osteogenic tumor" EXACT [NCIT:C6603] +xref: NCIT:C6603 {source="MONDO:equivalentTo"} +xref: UMLS:C1335146 {source="NCIT:C6603"} +is_a: MONDO:0002616 {source="NCIT:C6603"} ! mesenchymal cell neoplasm +intersection_of: MONDO:0002616 {source="NCIT:C6603"} ! mesenchymal cell neoplasm +intersection_of: disease_arises_from_structure CL:0000062 {source="NCIT:C6603"} ! osteoblast + +[Term] +id: MONDO:0045054 +name: cancer-related condition +def: "A disorder either associated with an increased risk for malignant transformation (e.g., intraepithelial neoplasia, leukoplakia, dysplastic nevus, myelodysplastic syndrome) or that develops as a result of the presence of an existing malignant neoplasm (e.g., paraneoplastic syndrome)." [NCIT:C8278] +synonym: "cancer related problem/condition" EXACT [NCIT:C8278] +synonym: "Cancer-Related Condition" EXACT [NCIT:C8278] +synonym: "Cancer-Related Problem or Condition" EXACT [NCIT:C8278] +synonym: "Oncologic Complications" EXACT [NCIT:C8278] +synonym: "problem/condition, cancer related" EXACT [NCIT:C8278] +synonym: "problem/condition, cancer-related" EXACT [NCIT:C8278] +xref: NCIT:C8278 {source="MONDO:equivalentTo"} +is_a: MONDO:0045024 ! cell proliferation disorder + +[Term] +id: MONDO:0045055 +name: glycogen-rich carcinoma +def: "A carcinoma characterized by the presence of malignant epithelial cells with abundant clear cytoplasm which contains glycogen. A representative example is the glycogen-rich, clear cell breast carcinoma." [NCIT:C4153] +synonym: "Glycogen-Rich Carcinoma" EXACT [NCIT:C4153] +xref: NCIT:C4153 {source="MONDO:equivalentTo"} +is_a: MONDO:0004993 {source="NCIT:C4153"} ! carcinoma + +[Term] +id: MONDO:0045056 +name: grade II meningioma +def: "An atypical meningioma which may recur in approximately 29-40% of the cases. This category includes the atypical meningioma, chordoid meningioma, and clear cell meningioma." [NCIT:C38937] +synonym: "Grade 2 Meningioma" EXACT [NCIT:C38937] +synonym: "Grade II Meningioma" EXACT [NCIT:C38937] +synonym: "WHO Grade II Meningioma" EXACT [NCIT:C38937] +xref: NCIT:C38937 {source="MONDO:equivalentTo"} +is_a: MONDO:0016642 {source="NCIT:C38937"} ! meningioma (disease) +intersection_of: MONDO:0016642 {source="NCIT:C38937"} ! meningioma (disease) +intersection_of: has_modifier MONDO:0024492 {source="NCIT:C38937"} ! tumor grade 2, general grading system +relationship: has_modifier MONDO:0024492 {source="NCIT:C38937"} ! tumor grade 2, general grading system + +[Term] +id: MONDO:0045057 +name: delirium +def: "A disorder characterized by confusion; inattentiveness; disorientation; illusions; hallucinations; agitation; and in some instances autonomic nervous system overactivity. It may result from toxic/metabolic conditions or structural brain lesions. (From Adams et al., Principles of Neurology, 6th ed, pp411-2)" [MESH:D003693] +synonym: "organic brain syndrome" RELATED [] +xref: ICD9:293.0 {source="linkedlifedata"} +xref: MESH:D003693 {source="MONDO:equivalentTo"} +xref: SCTID:2776000 {source="MONDO:equivalentTo"} +is_a: MONDO:0002039 {source="MESH:D003693"} ! cognitive disorder + +[Term] +id: MONDO:0045058 +name: ACTH-producing pituitary gland neoplasm +def: "An adenoma or carcinoma of the pituitary gland that produces corticotropin." [NCIT:C7909] +synonym: "ACTH Producing Pituitary Gland Neoplasm" EXACT [NCIT:C7909] +synonym: "ACTH-Producing Pituitary Gland Neoplasm" EXACT [NCIT:C7909] +synonym: "ACTH-Producing Pituitary Neoplasm" EXACT [NCIT:C7909] +synonym: "ACTH-Producing Pituitary Tumor" EXACT [NCIT:C7909] +synonym: "ACTH-Secreting Tumor of Pituitary" EXACT [NCIT:C7909] +synonym: "ACTH-Secreting Tumor of the Pituitary" EXACT [NCIT:C7909] +synonym: "Adrenocorticotropin Producing Pituitary Gland Tumor" EXACT [NCIT:C7909] +synonym: "Adrenocorticotropin Secreting Neoplasm of Pituitary" EXACT [NCIT:C7909] +synonym: "Adrenocorticotropin Secreting Neoplasm of the Pituitary" EXACT [NCIT:C7909] +synonym: "Adrenocorticotropin Secreting Pituitary Gland Tumor" EXACT [NCIT:C7909] +synonym: "Adrenocorticotropin Secreting Tumor of Pituitary" EXACT [NCIT:C7909] +synonym: "Adrenocorticotropin Secreting Tumor of the Pituitary" EXACT [NCIT:C7909] +synonym: "Corticotropin Secreting Pituitary Gland Neoplasm" EXACT [NCIT:C7909] +synonym: "Pituitary Corticotropin Secreting Neoplasm" EXACT [NCIT:C7909] +synonym: "Pituitary Corticotropin Secreting Tumor" EXACT [NCIT:C7909] +xref: NCIT:C7909 {source="MONDO:equivalentTo"} +intersection_of: MONDO:0005070 ! neoplasm (disease) +intersection_of: disease_has_location UBERON:0000007 ! pituitary gland +intersection_of: realized_in GO:0051458 ! corticotropin secretion + +[Term] +id: MONDO:0045059 +name: cribriform carcinoma of breast +synonym: "cribriform carcinoma" BROAD [NCI2004_11_17:C3680] +xref: DOID:5675 {source="MONDO:equivalentTo"} +xref: NCIT:C3680 {source="DOID:5675"} +xref: SCTID:30156004 {source="DOID:5675"} +xref: UMLS:C0205643 {source="DOID:5675"} +is_a: MONDO:0004989 {source="DOID:5675"} ! breast carcinoma +intersection_of: MONDO:0004989 ! breast carcinoma +intersection_of: disease_has_feature NCIT:C35920 + +[Term] +id: MONDO:0045060 +name: intraductal cribriform breast adenocarcinoma +def: "A ductal carcinoma in situ of the breast characterized by the presence of a cribriform architectural pattern." [NCIT:C5138] +synonym: "cribriform DCIS of breast" EXACT [NCIT:C5138] +synonym: "cribriform DCIS of the breast" EXACT [NCIT:C5138] +synonym: "cribriform ductal breast carcinoma in situ" EXACT [NCIT:C5138] +synonym: "cribriform ductal carcinoma in situ of breast" EXACT [NCIT:C5138] +synonym: "cribriform ductal carcinoma in situ of the breast" EXACT [NCIT:C5138] +synonym: "DCIS of breast with cribriform pattern" EXACT [NCIT:C5138] +synonym: "DCIS of the breast with cribriform pattern" EXACT [NCIT:C5138] +synonym: "ductal carcinoma in situ of breast with cribriform pattern" EXACT [NCIT:C5138] +synonym: "ductal carcinoma in situ of the breast with cribriform pattern" EXACT [NCIT:C5138] +synonym: "intraductal cribriform breast adenocarcinoma" EXACT [NCIT:C5138] +synonym: "non-infiltrating cribriform ductal breast carcinoma" EXACT [NCIT:C5138] +synonym: "non-invasive cribriform ductal breast carcinoma" EXACT [NCIT:C5138] +xref: ICDO:8201/2 {source="NCIT:C5138"} +xref: NCIT:C5138 {source="MONDO:equivalentTo"} +xref: UMLS:C1334248 {source="NCIT:C5138"} +is_a: MONDO:0005023 {source="NCIT:C5138"} ! ductal breast carcinoma in situ +is_a: MONDO:0006176 {source="NCIT:C5138"} ! cribriform carcinoma +intersection_of: MONDO:0005023 ! ductal breast carcinoma in situ +intersection_of: disease_has_feature NCIT:C35920 + [Term] id: MONDO:0100000 name: MED12-related intellectual disability syndrome @@ -409638,7 +415760,9 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-03-14T03:32:19Z xsd:da id: MONDO:0100004 name: mast cell activation syndrome def: "A clinically defined disease states with a largely unknown morphological background. Acute mast cell activation (MCA) is commonly seen in allergic reactions and often leads to the clinical signs and symptoms of anaphylaxis. Severe or even life‐threatening MCA may occur when the burden of mast cells is high and/or these cells are in an hyperactivated state. Mastocytosis may be associated with mast cell activation syndrome (MCAS)." [MEDDRA:10075217, PMID:22555026, PMID:23409940] +synonym: "disorder of mast cell activation" EXACT [MONDO:design_pattern] synonym: "MACS" EXACT [] +synonym: "mast cell activation disease" EXACT [MONDO:design_pattern] xref: GARD:0012981 {source="MONDO:equivalentTo"} is_a: MONDO:0004805 ! leukocyte disease is_a: MONDO:0021195 {source="MONDO:metaclass"} ! disease by cellular process disrupted @@ -409679,10 +415803,12 @@ property_value: http://purl.org/dc/elements/1.1/date 2018-06-22T21:10:26Z xsd:da id: MONDO:0100010 name: tendinopathy def: "Disorders that are causes by overuse of tendons." [PMID:19188560] +synonym: "disease of tendon" EXACT [MONDO:design_pattern] synonym: "disorder of tendon" EXACT [MONDO:design_pattern] synonym: "tendon disease" EXACT [MONDO:design_pattern] +synonym: "tendon disease or disorder" EXACT [MONDO:design_pattern] xref: SCTID:68172002 {source="MONDO:equivalentTo"} -is_a: MONDO:0003900 ! connective tissue disease +is_a: MONDO:0003900 {source="linkedlifedata/inferred"} ! connective tissue disease intersection_of: MONDO:0000001 ! disease or disorder intersection_of: disease_has_location UBERON:0000043 ! tendon property_value: http://purl.org/dc/elements/1.1/creator http://orcid.org/0000-0001-5208-3432 @@ -409717,6 +415843,8 @@ id: MONDO:0100014 name: autoimmune retinopathy def: "An autoimmune disease characterized by sudden onset of photopsias and scotomata in patients with no family history of retinitis pigmentosa, followed by visual field and central vision loss." [PMID:29721944] synonym: "AIR" EXACT [] +synonym: "autoimmune disease of retina" EXACT [MONDO:design_pattern] +synonym: "retina autoimmune disease" EXACT [MONDO:design_pattern] xref: GARD:0012034 {source="MONDO:equivalentTo"} xref: UMLS:C3203657 {source="MEDGEN:kboom-pr97-c99", source="MONDO:equivalentTo"} is_a: MONDO:0000587 ! autoimmune disease of ear, nose and throat @@ -409916,7 +416044,9 @@ name: CDKL5 disorder def: "A monogenic disease that has_material_basis_in mutation in the CDKL5 gene." [PMID:21154482, PMID:22872100, PMID:27080038, PMID:27528505] comment: Subtypes of the heterogeneous, eponymously named Early Infantile Epileptic Encephalopathy, Atypical Rett Syndrome, West Syndrome are caused by mutations in the gene CDKL5. The common and most penetrant phenotype shared among these disease entities is early onset epilepsy, progressive microcephaly, dysmorphic facial features, and intellectual disability, with stereotypic hand movements, respiratory impairment with breath holding and hyperventilation having variable phenotypic expressivity. {xref="https://orcid.org/0000-0002-6733-369X"} synonym: "CDKL5" RELATED [GARD:0012173] +synonym: "CDKL5 inherited genetic disease" EXACT [MONDO:design_pattern] synonym: "CDKL5-related disorder" RELATED [GARD:0012173] +synonym: "inherited genetic disease caused by mutation in CDKL5" EXACT [MONDO:design_pattern] xref: GARD:0012173 {source="MONDO:equivalentTo"} is_a: MONDO:0015653 ! monogenic disease with epilepsy is_a: MONDO:0015680 ! rare pervasive developmental disorder diff --git a/src/ontology/reports/release/semantic-xref-pairs.tsv b/src/ontology/reports/release/semantic-xref-pairs.tsv index 709f85adef..7caef7ce10 100644 --- a/src/ontology/reports/release/semantic-xref-pairs.tsv +++ b/src/ontology/reports/release/semantic-xref-pairs.tsv @@ -110,7 +110,7 @@ MONDO:0000087 polymicrogyria DC DC:0000363 one_to_one MONDO:0000087 polymicrogyria GARD GARD:0012271 one_to_one MONDO:0000087 polymicrogyria ICD10 ICD10:Q04.3 inexact MONDO:0000087 polymicrogyria MESH MESH:D065706 one_to_one -MONDO:0000087 polymicrogyria MONDO MONDO:0002320,MONDO:0015572,MONDO:0015983 subclass +MONDO:0000087 polymicrogyria MONDO MONDO:0015572,MONDO:0015983 subclass MONDO:0000087 polymicrogyria NCIT NCIT:C116936 one_to_one MONDO:0000087 polymicrogyria Orphanet Orphanet:35981 one_to_one MONDO:0000087 polymicrogyria SCTID SCTID:4945003 one_to_one @@ -206,7 +206,7 @@ MONDO:0000136 keratosis follicularis spinulosa decalvans DC DC:0000550 one_to_on MONDO:0000136 keratosis follicularis spinulosa decalvans GARD GARD:0006829 one_to_one MONDO:0000136 keratosis follicularis spinulosa decalvans ICD10 ICD10:Q82.8 inexact MONDO:0000136 keratosis follicularis spinulosa decalvans ICD9 ICD9:757.39 inexact -MONDO:0000136 keratosis follicularis spinulosa decalvans MONDO MONDO:0006552,MONDO:0006566,MONDO:0015960,MONDO:0018855,MONDO:0020162 subclass +MONDO:0000136 keratosis follicularis spinulosa decalvans MONDO MONDO:0002320,MONDO:0006552,MONDO:0006566,MONDO:0015960,MONDO:0018855,MONDO:0020162 subclass MONDO:0000136 keratosis follicularis spinulosa decalvans Orphanet Orphanet:2340 one_to_one MONDO:0000136 keratosis follicularis spinulosa decalvans SCTID SCTID:238626006 one_to_one MONDO:0000137 leukoencephalopathy, megalencephalic DC DC:0000556 one_to_one @@ -325,7 +325,7 @@ MONDO:0000184 congenital vitamin K-dependent coagulation factors combined defici MONDO:0000184 congenital vitamin K-dependent coagulation factors combined deficiency OMIMPS OMIMPS:277450 one_to_one MONDO:0000188 GLUT1 deficiency syndrome DC DC:0000690 one_to_one MONDO:0000188 GLUT1 deficiency syndrome GO GO:1904659 disease_has_basis_in_disruption_of -MONDO:0000188 GLUT1 deficiency syndrome MONDO MONDO:0015955,MONDO:0019214,MONDO:0045015,MONDO:0100033 subclass +MONDO:0000188 GLUT1 deficiency syndrome MONDO MONDO:0002320,MONDO:0015955,MONDO:0019214,MONDO:0045015,MONDO:0100033 subclass MONDO:0000188 GLUT1 deficiency syndrome OMIMPS OMIMPS:606777 one_to_one MONDO:0000190 ventricular fibrillation (disease) COHD COHD:437894 one_to_one MONDO:0000190 ventricular fibrillation (disease) DC DC:0000692 one_to_one @@ -344,16 +344,20 @@ MONDO:0000192 polyglucosan body myopathy UMLS UMLS:CN228160 one_to_one MONDO:0000193 cortisone reductase deficiency DC DC:0000697 one_to_one MONDO:0000193 cortisone reductase deficiency DOID DOID:0090139 one_to_one MONDO:0000193 cortisone reductase deficiency GARD GARD:0009882 one_to_one +MONDO:0000193 cortisone reductase deficiency GO GO:0003845 disease_disrupts +MONDO:0000193 cortisone reductase deficiency ICD10 ICD10:E25.8 inexact MONDO:0000193 cortisone reductase deficiency ICD9 ICD9:277.6 inexact -MONDO:0000193 cortisone reductase deficiency MONDO MONDO:0005151 subclass +MONDO:0000193 cortisone reductase deficiency MONDO MONDO:0015898,MONDO:0016072,MONDO:0044976 subclass MONDO:0000193 cortisone reductase deficiency OMIMPS OMIMPS:604931 one_to_one +MONDO:0000193 cortisone reductase deficiency Orphanet Orphanet:168588 one_to_one MONDO:0000193 cortisone reductase deficiency SCTID SCTID:124138004 one_to_one +MONDO:0000193 cortisone reductase deficiency UMLS UMLS:CN200166 one_to_one MONDO:0000200 Zimmermann-Laband syndrome DC DC:0000708 one_to_one MONDO:0000200 Zimmermann-Laband syndrome GARD GARD:0000385 one_to_one MONDO:0000200 Zimmermann-Laband syndrome ICD10 ICD10:Q87.8 inexact MONDO:0000200 Zimmermann-Laband syndrome ICD9 ICD9:759.89 inexact MONDO:0000200 Zimmermann-Laband syndrome MESH MESH:C536725 one_to_one -MONDO:0000200 Zimmermann-Laband syndrome MONDO MONDO:0015159,MONDO:0015336,MONDO:0015983 subclass +MONDO:0000200 Zimmermann-Laband syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015336,MONDO:0015983 subclass MONDO:0000200 Zimmermann-Laband syndrome OMIMPS OMIMPS:135500 one_to_one MONDO:0000200 Zimmermann-Laband syndrome Orphanet Orphanet:3473 one_to_one MONDO:0000200 Zimmermann-Laband syndrome SCTID SCTID:699447001 one_to_one @@ -368,7 +372,7 @@ MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism UMLS MONDO:0000208 microcephaly, short stature, and impaired glucose metabolism http http://identifiers.org/hgnc/28403 disease_has_basis_in_dysfunction_of MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures DC DC:0000720 one_to_one MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures MONDO MONDO:0001516 disease_has_feature -MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures MONDO MONDO:0015168,MONDO:0024257 subclass +MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures MONDO MONDO:0002320,MONDO:0015168,MONDO:0024257 subclass MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures OMIMPS OMIMPS:616866 one_to_one MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures Orphanet Orphanet:486811 one_to_one MONDO:0000209 prenatal-onset spinal muscular atrophy with congenital bone fractures UMLS UMLS:CN238807 one_to_one @@ -471,14 +475,13 @@ MONDO:0000238 pestis minor MEDGEN MEDGEN:546803 one_to_one MONDO:0000238 pestis minor MONDO MONDO:0001112 subclass MONDO:0000238 pestis minor SCTID SCTID:186287003 one_to_one MONDO:0000238 pestis minor UMLS UMLS:C0275757 one_to_one -MONDO:0000239 pulmonary adiaspiromycosis DOID DOID:0050072 one_to_one -MONDO:0000239 pulmonary adiaspiromycosis ICD9 ICD9:117.9 inexact -MONDO:0000239 pulmonary adiaspiromycosis MEDGEN MEDGEN:537148 one_to_one -MONDO:0000239 pulmonary adiaspiromycosis MONDO MONDO:0000308,MONDO:0005550,MONDO:0005766 subclass -MONDO:0000239 pulmonary adiaspiromycosis NCBITaxon NCBITaxon:41283 realized_in_response_to_stimulus -MONDO:0000239 pulmonary adiaspiromycosis SCTID SCTID:23892008 one_to_one -MONDO:0000239 pulmonary adiaspiromycosis UBERON UBERON:0002048 disease_has_location -MONDO:0000239 pulmonary adiaspiromycosis UMLS UMLS:C0259737 one_to_one +MONDO:0000239 adiaspiromycosis DOID DOID:0050072 one_to_one +MONDO:0000239 adiaspiromycosis ICD9 ICD9:117.9 inexact +MONDO:0000239 adiaspiromycosis MEDGEN MEDGEN:537148 one_to_one +MONDO:0000239 adiaspiromycosis MONDO MONDO:0000308,MONDO:0005550,MONDO:0005766 subclass +MONDO:0000239 adiaspiromycosis NCBITaxon NCBITaxon:41283 realized_in_response_to_stimulus +MONDO:0000239 adiaspiromycosis SCTID SCTID:23892008 one_to_one +MONDO:0000239 adiaspiromycosis UMLS UMLS:C0259737 one_to_one MONDO:0000240 invasive aspergillosis DOID DOID:0050073 one_to_one MONDO:0000240 invasive aspergillosis HP HP:0002090 disease_has_feature MONDO:0000240 invasive aspergillosis MONDO MONDO:0000266 subclass @@ -490,6 +493,7 @@ MONDO:0000241 Keshan disease GO GO:0001887 disease_disrupts MONDO:0000241 Keshan disease ICD9 ICD9:269.3 inexact MONDO:0000241 Keshan disease MESH MESH:C536166 one_to_one MONDO:0000241 Keshan disease MONDO MONDO:0004994,MONDO:0005721,MONDO:0006873,MONDO:0015576 subclass +MONDO:0000241 Keshan disease NCBITaxon NCBITaxon:12066 realized_in_response_to_stimulus MONDO:0000241 Keshan disease SCTID SCTID:46939000 one_to_one MONDO:0000241 Keshan disease UMLS UMLS:C0268095 one_to_one MONDO:0000242 tinea barbae DOID DOID:0050096 one_to_one @@ -521,7 +525,7 @@ MONDO:0000249 secretory diarrhea UMLS UMLS:C0267557 one_to_one MONDO:0000250 osmotic diarrheal disease DOID DOID:0050130 one_to_one MONDO:0000250 osmotic diarrheal disease HP HP:0004789 disease_has_feature MONDO:0000250 osmotic diarrheal disease MEDGEN MEDGEN:540779 one_to_one -MONDO:0000250 osmotic diarrheal disease MONDO MONDO:0001673 subclass +MONDO:0000250 osmotic diarrheal disease MONDO MONDO:0045030 subclass MONDO:0000250 osmotic diarrheal disease OBA OBA:1001084 disease_has_feature MONDO:0000250 osmotic diarrheal disease SCTID SCTID:2946003 one_to_one MONDO:0000250 osmotic diarrheal disease UMLS UMLS:C0267556 one_to_one @@ -537,13 +541,15 @@ MONDO:0000253 piedra SCTID SCTID:402135006 one_to_one MONDO:0000253 piedra UBERON UBERON:0002074 disease_has_location MONDO:0000253 piedra UMLS UMLS:C0031898 one_to_one MONDO:0000254 cutaneous mycosis DOID DOID:0050134 one_to_one -MONDO:0000254 cutaneous mycosis MONDO MONDO:0002041,MONDO:0002051,MONDO:0045027 subclass +MONDO:0000254 cutaneous mycosis MONDO MONDO:0045042 has_modifier +MONDO:0000254 cutaneous mycosis MONDO MONDO:0002041,MONDO:0002051 subclass MONDO:0000254 cutaneous mycosis UBERON UBERON:0002416 disease_has_location MONDO:0000255 subcutaneous mycosis DOID DOID:0050135 one_to_one MONDO:0000255 subcutaneous mycosis MONDO MONDO:0000254,MONDO:0002041 subclass MONDO:0000255 subcutaneous mycosis UBERON UBERON:0002072 disease_has_location MONDO:0000256 systemic mycosis DOID DOID:0050136 one_to_one MONDO:0000256 systemic mycosis ICD9 ICD9:117.9 inexact +MONDO:0000256 systemic mycosis MONDO MONDO:0022202 has_modifier MONDO:0000256 systemic mycosis MONDO MONDO:0002041 subclass MONDO:0000256 systemic mycosis SCTID SCTID:399314004 one_to_one MONDO:0000256 systemic mycosis UMLS UMLS:C0553576 one_to_one @@ -552,9 +558,6 @@ MONDO:0000257 acute diarrhea MONDO MONDO:0001673 subclass MONDO:0000257 acute diarrhea PATO PATO:0000389 has_modifier MONDO:0000257 acute diarrhea SCTID SCTID:409966000 one_to_one MONDO:0000257 acute diarrhea UMLS UMLS:C0740441 one_to_one -MONDO:0000259 asymptomatic dengue DOID DOID:0050143 one_to_one -MONDO:0000259 asymptomatic dengue MONDO MONDO:0005502 subclass -MONDO:0000259 asymptomatic dengue NCBITaxon NCBITaxon:11053 realized_in_response_to_stimulus MONDO:0000261 adenoiditis COHD COHD:439851 one_to_one MONDO:0000261 adenoiditis DOID DOID:0050145 one_to_one MONDO:0000261 adenoiditis ICD10 ICD10:J35.02 one_to_one @@ -602,11 +605,11 @@ MONDO:0000271 tuberculous salpingitis MONDO MONDO:0003619,MONDO:0006002,MONDO:00 MONDO:0000271 tuberculous salpingitis SCTID SCTID:49558004 one_to_one MONDO:0000271 tuberculous salpingitis UBERON UBERON:0003889 disease_has_inflammation_site MONDO:0000271 tuberculous salpingitis UMLS UMLS:C0275933 one_to_one -MONDO:0000273 Kunjin encephalitis DOID DOID:0050174 one_to_one -MONDO:0000273 Kunjin encephalitis HP HP:0001254 disease_has_feature -MONDO:0000273 Kunjin encephalitis MONDO MONDO:0019376 subclass -MONDO:0000273 Kunjin encephalitis NCBITaxon NCBITaxon:11077 realized_in_response_to_stimulus -MONDO:0000273 Kunjin encephalitis NCBITaxon NCBITaxon:162997 transmitted_by +MONDO:0000273 Kunjin virus infectous disease DOID DOID:0050174 one_to_one +MONDO:0000273 Kunjin virus infectous disease HP HP:0001254 disease_has_feature +MONDO:0000273 Kunjin virus infectous disease MONDO MONDO:0005550,MONDO:0019376 subclass +MONDO:0000273 Kunjin virus infectous disease NCBITaxon NCBITaxon:11077 realized_in_response_to_stimulus +MONDO:0000273 Kunjin virus infectous disease NCBITaxon NCBITaxon:162997 transmitted_by MONDO:0000275 monogenic disease DOID DOID:0050177 one_to_one MONDO:0000275 monogenic disease MONDO MONDO:0003847 subclass MONDO:0000276 Powassan encephalitis DOID DOID:0050179 one_to_one @@ -619,17 +622,17 @@ MONDO:0000282 Whitewater Arroyo hemorrhagic fever DOID DOID:0050199 one_to_one MONDO:0000282 Whitewater Arroyo hemorrhagic fever MONDO MONDO:0005108,MONDO:0005650 subclass MONDO:0000282 Whitewater Arroyo hemorrhagic fever NCBITaxon NCBITaxon:46919 realized_in_response_to_stimulus MONDO:0000282 Whitewater Arroyo hemorrhagic fever NCBITaxon NCBITaxon:42408 transmitted_by -MONDO:0000283 Korean hemorrhagic fever DOID DOID:0050200 one_to_one -MONDO:0000283 Korean hemorrhagic fever HP HP:0000622,HP:0002615,HP:0003418 disease_has_feature -MONDO:0000283 Korean hemorrhagic fever MONDO MONDO:0005784 subclass -MONDO:0000283 Korean hemorrhagic fever NCBITaxon NCBITaxon:11599,NCBITaxon:11608 realized_in_response_to_stimulus -MONDO:0000283 Korean hemorrhagic fever NCBITaxon NCBITaxon:10116,NCBITaxon:39030 transmitted_by -MONDO:0000284 nephropathia epidemica DOID DOID:0050201 one_to_one -MONDO:0000284 nephropathia epidemica HP HP:0003418,HP:0011029 disease_has_feature -MONDO:0000284 nephropathia epidemica MONDO MONDO:0005784 subclass -MONDO:0000284 nephropathia epidemica NCBITaxon NCBITaxon:11604 realized_in_response_to_stimulus -MONDO:0000284 nephropathia epidemica NCBITaxon NCBITaxon:447135 transmitted_by -MONDO:0000284 nephropathia epidemica UMLS UMLS:C0242993 one_to_one +MONDO:0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type DOID DOID:0050200 one_to_one +MONDO:0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type HP HP:0000622,HP:0002615,HP:0003418 disease_has_feature +MONDO:0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type MONDO MONDO:0005784 subclass +MONDO:0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type NCBITaxon NCBITaxon:11608 realized_in_response_to_stimulus +MONDO:0000283 Hantavirus hemorrhagic fever with renal syndrome, Seoul virus type NCBITaxon NCBITaxon:10116,NCBITaxon:39030 transmitted_by +MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type DOID DOID:0050201 one_to_one +MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type HP HP:0003418,HP:0011029 disease_has_feature +MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type MONDO MONDO:0005784 subclass +MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type NCBITaxon NCBITaxon:11604 realized_in_response_to_stimulus +MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type NCBITaxon NCBITaxon:447135 transmitted_by +MONDO:0000284 Hantavirus hemorrhagic fever with renal syndrome, Puumala virus type UMLS UMLS:C0242993 one_to_one MONDO:0000286 Epstein-Barr virus hepatitis DOID DOID:0050204 one_to_one MONDO:0000286 Epstein-Barr virus hepatitis HP HP:0000952,HP:0006562 disease_has_feature MONDO:0000286 Epstein-Barr virus hepatitis MONDO MONDO:0000001,MONDO:0005111,MONDO:0006011,MONDO:0024294 subclass @@ -638,6 +641,7 @@ MONDO:0000286 Epstein-Barr virus hepatitis SCTID SCTID:302919001 one_to_one MONDO:0000286 Epstein-Barr virus hepatitis UBERON UBERON:0002107 disease_has_inflammation_site MONDO:0000288 polycystic echinococcosis DOID DOID:0050218 one_to_one MONDO:0000288 polycystic echinococcosis MONDO MONDO:0005154,MONDO:0005738,MONDO:0043424 subclass +MONDO:0000288 polycystic echinococcosis NCBITaxon NCBITaxon:6213 realized_in_response_to_stimulus MONDO:0000290 primary amebic meningoencephalitis DOID DOID:0050242 one_to_one MONDO:0000290 primary amebic meningoencephalitis HP HP:0001250,HP:0002063 disease_has_feature MONDO:0000290 primary amebic meningoencephalitis MESH MESH:C535275 one_to_one @@ -660,9 +664,12 @@ MONDO:0000293 coenurosis MONDO MONDO:0000367 subclass MONDO:0000293 coenurosis SCTID SCTID:24360007 one_to_one MONDO:0000294 mesocestoidiasis DOID DOID:0050253 one_to_one MONDO:0000294 mesocestoidiasis MONDO MONDO:0000001,MONDO:0042488 subclass -MONDO:0000294 mesocestoidiasis NCBITaxon NCBITaxon:160008 realized_in_response_to_stimulus +MONDO:0000294 mesocestoidiasis NCBITaxon NCBITaxon:53467 realized_in_response_to_stimulus +MONDO:0000294 mesocestoidiasis SCTID SCTID:85750001 one_to_one MONDO:0000295 acanthocephaliasis DOID DOID:0050254 one_to_one -MONDO:0000295 acanthocephaliasis MONDO MONDO:0004664 subclass +MONDO:0000295 acanthocephaliasis MONDO MONDO:0000001,MONDO:0004664 subclass +MONDO:0000295 acanthocephaliasis NCBITaxon NCBITaxon:10232 realized_in_response_to_stimulus +MONDO:0000295 acanthocephaliasis SCTID SCTID:105713003 one_to_one MONDO:0000297 baylisascariasis DOID DOID:0050259 one_to_one MONDO:0000297 baylisascariasis HP HP:0000618 disease_has_feature MONDO:0000297 baylisascariasis MONDO MONDO:0000001,MONDO:0004664,MONDO:0005656 subclass @@ -671,6 +678,7 @@ MONDO:0000297 baylisascariasis NCIT NCIT:C128397 one_to_one MONDO:0000298 dioctophymiasis DOID DOID:0050260 one_to_one MONDO:0000298 dioctophymiasis MONDO MONDO:0000001,MONDO:0004664,MONDO:0005745 subclass MONDO:0000298 dioctophymiasis NCBITaxon NCBITaxon:513045 realized_in_response_to_stimulus +MONDO:0000298 dioctophymiasis SCTID SCTID:40410004 one_to_one MONDO:0000299 thelaziasis DOID DOID:0050261 one_to_one MONDO:0000299 thelaziasis ICD9 ICD9:128.8 inexact MONDO:0000299 thelaziasis MONDO MONDO:0000001,MONDO:0004664,MONDO:0005871 subclass @@ -683,9 +691,9 @@ MONDO:0000301 ophthalmomyiasis NCBITaxon NCBITaxon:123737 realized_in_response_t MONDO:0000301 ophthalmomyiasis SCTID SCTID:48216006 one_to_one MONDO:0000301 ophthalmomyiasis UMLS UMLS:C0027034 one_to_one MONDO:0000302 basidiobolomycosis DOID DOID:0050278 one_to_one -MONDO:0000302 basidiobolomycosis HP HP:0001482 disease_has_feature MONDO:0000302 basidiobolomycosis MEDGEN MEDGEN:575966 one_to_one -MONDO:0000302 basidiobolomycosis MONDO MONDO:0000001,MONDO:0000255,MONDO:0019136,MONDO:0019519,MONDO:0024294 subclass +MONDO:0000302 basidiobolomycosis MONDO MONDO:0000255,MONDO:0005093 excluded_subClassOf +MONDO:0000302 basidiobolomycosis MONDO MONDO:0000001,MONDO:0019136 subclass MONDO:0000302 basidiobolomycosis NCBITaxon NCBITaxon:4859 realized_in_response_to_stimulus MONDO:0000302 basidiobolomycosis SCTID SCTID:4921002 one_to_one MONDO:0000302 basidiobolomycosis UMLS UMLS:C0343965 one_to_one @@ -698,17 +706,19 @@ MONDO:0000303 conidiobolomycosis SCTID SCTID:240783007 one_to_one MONDO:0000303 conidiobolomycosis UMLS UMLS:C0276712 one_to_one MONDO:0000304 penicilliosis DOID DOID:0050288 one_to_one MONDO:0000304 penicilliosis HP HP:0001433,HP:0001824,HP:0001903,HP:0002716 disease_has_feature -MONDO:0000304 penicilliosis MONDO MONDO:0000001,MONDO:0002312 subclass +MONDO:0000304 penicilliosis MONDO MONDO:0000001,MONDO:0045033 subclass MONDO:0000304 penicilliosis NCBITaxon NCBITaxon:37727 realized_in_response_to_stimulus +MONDO:0000304 penicilliosis SCTID SCTID:713315007 one_to_one MONDO:0000306 trichosporonosis DOID DOID:0050290 one_to_one MONDO:0000306 trichosporonosis MESH MESH:D060586 one_to_one -MONDO:0000306 trichosporonosis MONDO MONDO:0000001,MONDO:0002312 subclass +MONDO:0000306 trichosporonosis MONDO MONDO:0000001,MONDO:0045033 subclass MONDO:0000306 trichosporonosis NCBITaxon NCBITaxon:5552 realized_in_response_to_stimulus MONDO:0000306 trichosporonosis SCTID SCTID:240761008 one_to_one MONDO:0000307 parasitic Ichthyosporea infectious disease DOID DOID:0050291 one_to_one MONDO:0000307 parasitic Ichthyosporea infectious disease MONDO MONDO:0000001,MONDO:0005135 subclass MONDO:0000307 parasitic Ichthyosporea infectious disease NCBITaxon NCBITaxon:127916 realized_in_response_to_stimulus MONDO:0000308 primary systemic mycosis DOID DOID:0050292 one_to_one +MONDO:0000308 primary systemic mycosis MONDO MONDO:0045036 has_modifier MONDO:0000308 primary systemic mycosis MONDO MONDO:0000256 subclass MONDO:0000309 aniseikonia DOID DOID:0050304 one_to_one MONDO:0000309 aniseikonia EFO EFO:1001266 one_to_one @@ -731,10 +741,12 @@ MONDO:0000313 hypophosphatemia (disease) NCIT NCIT:C37977 one_to_one MONDO:0000313 hypophosphatemia (disease) SCTID SCTID:4996001 one_to_one MONDO:0000313 hypophosphatemia (disease) UMLS UMLS:C0085682 one_to_one MONDO:0000314 primary bacterial infectious disease DOID DOID:0050338 one_to_one +MONDO:0000314 primary bacterial infectious disease MONDO MONDO:0045036 has_modifier MONDO:0000314 primary bacterial infectious disease MONDO MONDO:0005113 subclass MONDO:0000315 commensal bacterial infectious disease DOID DOID:0050339 one_to_one MONDO:0000315 commensal bacterial infectious disease MONDO MONDO:0005113 subclass MONDO:0000316 opportunistic bacterial infectious disease DOID DOID:0050340 one_to_one +MONDO:0000316 opportunistic bacterial infectious disease MONDO MONDO:0045035 has_modifier MONDO:0000316 opportunistic bacterial infectious disease MONDO MONDO:0005113 subclass MONDO:0000320 glandular tularemia DOID DOID:0050382 one_to_one MONDO:0000320 glandular tularemia MONDO MONDO:0004928,MONDO:0018077,MONDO:0020008 subclass @@ -857,15 +869,16 @@ MONDO:0000345 Oropouche fever NCBITaxon NCBITaxon:118655 realized_in_response_to MONDO:0000345 Oropouche fever NCBITaxon NCBITaxon:41820 transmitted_by MONDO:0000345 Oropouche fever SCTID SCTID:72880002 one_to_one MONDO:0000345 Oropouche fever UMLS UMLS:C0276386 one_to_one -MONDO:0000346 Balkan hemorrhagic fever DOID DOID:0050522 one_to_one -MONDO:0000346 Balkan hemorrhagic fever MONDO MONDO:0000001,MONDO:0005784 subclass -MONDO:0000346 Balkan hemorrhagic fever NCBITaxon NCBITaxon:12506 realized_in_response_to_stimulus -MONDO:0000346 Balkan hemorrhagic fever NCBITaxon NCBITaxon:54292 transmitted_by -MONDO:0000351 hypermethioninemia (disease) DOID DOID:0050544 one_to_one -MONDO:0000351 hypermethioninemia (disease) HP HP:0003235 one_to_one -MONDO:0000351 hypermethioninemia (disease) MONDO MONDO:0004736 subclass -MONDO:0000351 hypermethioninemia (disease) SCTID SCTID:43123004 one_to_one -MONDO:0000351 hypermethioninemia (disease) UMLS UMLS:C4048705 one_to_one +MONDO:0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type DOID DOID:0050522 one_to_one +MONDO:0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type MONDO MONDO:0005784 subclass +MONDO:0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type NCBITaxon NCBITaxon:12506 realized_in_response_to_stimulus +MONDO:0000346 Hantavirus hemorrhagic fever with renal syndrome, Dobrava-Belgrade virus type NCBITaxon NCBITaxon:54292 transmitted_by +MONDO:0000351 disorder of methionine catabolism DOID DOID:0050544 one_to_one +MONDO:0000351 disorder of methionine catabolism GO GO:0009087 disease_has_basis_in_disruption_of +MONDO:0000351 disorder of methionine catabolism HP HP:0003235 one_to_one +MONDO:0000351 disorder of methionine catabolism MONDO MONDO:0019052,MONDO:0019222,MONDO:0037938 subclass +MONDO:0000351 disorder of methionine catabolism SCTID SCTID:43123004 one_to_one +MONDO:0000351 disorder of methionine catabolism UMLS UMLS:C4048705 one_to_one MONDO:0000355 Ullrich congenital muscular dystrophy DOID DOID:0050558 one_to_one MONDO:0000355 Ullrich congenital muscular dystrophy GARD GARD:0004769 one_to_one MONDO:0000355 Ullrich congenital muscular dystrophy ICD10 ICD10:G71.2 inexact @@ -876,9 +889,11 @@ MONDO:0000355 Ullrich congenital muscular dystrophy Orphanet Orphanet:75840 one_ MONDO:0000355 Ullrich congenital muscular dystrophy SCTID SCTID:240062007 one_to_one MONDO:0000355 Ullrich congenital muscular dystrophy UMLS UMLS:C0410179 one_to_one MONDO:0000358 orofacial cleft DOID DOID:0050567 one_to_one -MONDO:0000358 orofacial cleft MONDO MONDO:0000839 subclass +MONDO:0000358 orofacial cleft HP HP:0000202 disease_has_major_feature +MONDO:0000358 orofacial cleft MONDO MONDO:0000839,MONDO:0044987 subclass MONDO:0000358 orofacial cleft OMIMPS OMIMPS:119530 one_to_one MONDO:0000358 orofacial cleft SCTID SCTID:449790007 one_to_one +MONDO:0000358 orofacial cleft UBERON UBERON:0012314 disease_has_basis_in_development_of MONDO:0000358 orofacial cleft UMLS UMLS:CN221583 one_to_one MONDO:0000359 spondylocostal dysostosis DOID DOID:0050568 one_to_one MONDO:0000359 spondylocostal dysostosis MONDO MONDO:0018234 subclass @@ -892,7 +907,8 @@ MONDO:0000365 primary congenital glaucoma (disease) MONDO MONDO:0020366 subclass MONDO:0000365 primary congenital glaucoma (disease) NCIT NCIT:C150251 one_to_one MONDO:0000365 primary congenital glaucoma (disease) SCTID SCTID:415176004 one_to_one MONDO:0000366 glycogen storage disease IX DOID DOID:0050594 one_to_one -MONDO:0000366 glycogen storage disease IX MONDO MONDO:0002412 subclass +MONDO:0000366 glycogen storage disease IX GO GO:0004689 disease_disrupts +MONDO:0000366 glycogen storage disease IX MONDO MONDO:0002412,MONDO:0044976 subclass MONDO:0000366 glycogen storage disease IX NCIT NCIT:C122662 one_to_one MONDO:0000366 glycogen storage disease IX SCTID SCTID:235908005 one_to_one MONDO:0000367 taeniasis DOID DOID:0050596 one_to_one @@ -1021,7 +1037,7 @@ MONDO:0000390 vitelliform macular dystrophy UMLS UMLS:C0339510 one_to_one MONDO:0000393 partial fetal alcohol syndrome DOID DOID:0050666 one_to_one MONDO:0000393 partial fetal alcohol syndrome MONDO MONDO:0000408 subclass MONDO:0000395 alcohol-related birth defect DOID DOID:0050668 one_to_one -MONDO:0000395 alcohol-related birth defect MONDO MONDO:0000408 subclass +MONDO:0000395 alcohol-related birth defect MONDO MONDO:0000408,MONDO:0002326 subclass MONDO:0000395 alcohol-related birth defect NCIT NCIT:C92727 one_to_one MONDO:0000396 spastic cerebral palsy DOID DOID:0050669 one_to_one MONDO:0000396 spastic cerebral palsy ICD9 ICD9:344.89 one_to_one @@ -1064,7 +1080,7 @@ MONDO:0000406 Brown-Vialetto-van Laere syndrome MONDO MONDO:0000426 excluded_sub MONDO:0000406 Brown-Vialetto-van Laere syndrome MONDO MONDO:0008891 subclass MONDO:0000406 Brown-Vialetto-van Laere syndrome OMIMPS OMIMPS:211530 one_to_one MONDO:0000407 malignant pleural solitary fibrous tumor DOID DOID:0050695 one_to_one -MONDO:0000407 malignant pleural solitary fibrous tumor MONDO MONDO:0006294,MONDO:0021041 subclass +MONDO:0000407 malignant pleural solitary fibrous tumor MONDO MONDO:0002176,MONDO:0006294,MONDO:0021041 subclass MONDO:0000407 malignant pleural solitary fibrous tumor PATO PATO:0002097 has_modifier MONDO:0000408 fetal alcohol spectrum disorder DOID DOID:0050696 one_to_one MONDO:0000408 fetal alcohol spectrum disorder MONDO MONDO:0000592 subclass @@ -1102,9 +1118,6 @@ MONDO:0000417 early onset absence epilepsy MONDO MONDO:0000414 subclass MONDO:0000421 inborn serine deficiency DOID DOID:0050721 one_to_one MONDO:0000421 inborn serine deficiency GO GO:0006564 disease_has_basis_in_disruption_of MONDO:0000421 inborn serine deficiency MONDO MONDO:0019052,MONDO:0019239 subclass -MONDO:0000422 inborn glycogen metabolism disorder DOID DOID:0050728 one_to_one -MONDO:0000422 inborn glycogen metabolism disorder GO GO:0005977 disease_has_basis_in_disruption_of -MONDO:0000422 inborn glycogen metabolism disorder MONDO MONDO:0019052,MONDO:0019214,MONDO:0019243 subclass MONDO:0000424 inborn vitamin B12 deficiency (disease) DOID DOID:0050731 one_to_one MONDO:0000424 inborn vitamin B12 deficiency (disease) EFO EFO:0000734 one_to_one MONDO:0000424 inborn vitamin B12 deficiency (disease) GO GO:0009235 disease_has_basis_in_disruption_of @@ -1312,7 +1325,7 @@ MONDO:0000471 tricuspid valve disease ICD10 ICD10:I07,ICD10:I07.9 inexact MONDO:0000471 tricuspid valve disease ICD9 ICD9:397.0 one_to_one MONDO:0000471 tricuspid valve disease MONDO MONDO:0000001,MONDO:0002869 subclass MONDO:0000471 tricuspid valve disease NCIT NCIT:C78649 one_to_one -MONDO:0000471 tricuspid valve disease SCTID SCTID:49699002 one_to_one +MONDO:0000471 tricuspid valve disease SCTID SCTID:20721001 one_to_one MONDO:0000471 tricuspid valve disease UBERON UBERON:0002134 disease_has_location MONDO:0000471 tricuspid valve disease UMLS UMLS:C0264776,UMLS:C0264882 inexact MONDO:0000473 arterial disorder DOID DOID:0050828 one_to_one @@ -1463,7 +1476,7 @@ MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotempo MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia DOID DOID:0050881 one_to_one MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia GARD GARD:0010899 one_to_one MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia ICD10 ICD10:G71.8 inexact -MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO MONDO:0002254,MONDO:0015960,MONDO:0016112,MONDO:0017276,MONDO:0019708 subclass +MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia MONDO MONDO:0002254,MONDO:0002320,MONDO:0015960,MONDO:0016112,MONDO:0017276,MONDO:0019708 subclass MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia OMIMPS OMIMPS:167320 one_to_one MONDO:0000507 inclusion body myopathy with Paget disease of bone and frontotemporal dementia Orphanet Orphanet:52430 one_to_one MONDO:0000508 syndromic intellectual disability DOID DOID:0050888 one_to_one @@ -1748,11 +1761,14 @@ MONDO:0000612 lymphatic system cancer DOID DOID:0060073 one_to_one MONDO:0000612 lymphatic system cancer MONDO MONDO:0000621,MONDO:0004992,MONDO:0005833 subclass MONDO:0000612 lymphatic system cancer UBERON UBERON:0006558 disease_has_location MONDO:0000615 progesterone-receptor positive breast cancer DOID DOID:0060077 one_to_one -MONDO:0000615 progesterone-receptor positive breast cancer MONDO MONDO:0006116 subclass +MONDO:0000615 progesterone-receptor positive breast cancer MONDO MONDO:0006116,MONDO:0007254 subclass +MONDO:0000615 progesterone-receptor positive breast cancer NCIT NCIT:C15496 disease_has_feature MONDO:0000616 progesterone-receptor negative breast cancer DOID DOID:0060078 one_to_one -MONDO:0000616 progesterone-receptor negative breast cancer MONDO MONDO:0006116 subclass +MONDO:0000616 progesterone-receptor negative breast cancer MONDO MONDO:0006116,MONDO:0007254 subclass +MONDO:0000616 progesterone-receptor negative breast cancer NCIT NCIT:C15497 disease_has_feature MONDO:0000618 Her2-receptor negative breast cancer DOID DOID:0060080 one_to_one -MONDO:0000618 Her2-receptor negative breast cancer MONDO MONDO:0006116 subclass +MONDO:0000618 Her2-receptor negative breast cancer MONDO MONDO:0006116,MONDO:0007254 subclass +MONDO:0000618 Her2-receptor negative breast cancer NCIT NCIT:C68749 disease_has_feature MONDO:0000620 breast benign neoplasm COHD COHD:72576 one_to_one MONDO:0000620 breast benign neoplasm DOID DOID:0060082 one_to_one MONDO:0000620 breast benign neoplasm ICD9 ICD9:217 one_to_one @@ -1902,10 +1918,10 @@ MONDO:0000651 thoracic disease SCTID SCTID:118946009,SCTID:609622007 inexact MONDO:0000651 thoracic disease UBERON UBERON:0000915 disease_has_location MONDO:0000651 thoracic disease UMLS UMLS:C0039978,UMLS:C3661979 inexact MONDO:0000652 integumentary system benign neoplasm DOID DOID:0060121 one_to_one -MONDO:0000652 integumentary system benign neoplasm MONDO MONDO:0002051,MONDO:0005165,MONDO:0045027 subclass +MONDO:0000652 integumentary system benign neoplasm MONDO MONDO:0002051,MONDO:0005165 subclass MONDO:0000652 integumentary system benign neoplasm UBERON UBERON:0002416 disease_has_location MONDO:0000653 integumentary system cancer DOID DOID:0060122 one_to_one -MONDO:0000653 integumentary system cancer MONDO MONDO:0002051,MONDO:0004992,MONDO:0045027 subclass +MONDO:0000653 integumentary system cancer MONDO MONDO:0002051,MONDO:0004992 subclass MONDO:0000653 integumentary system cancer UBERON UBERON:0002416 disease_has_location MONDO:0000654 benign connective and soft tissue neoplasm COHD COHD:374882 one_to_one MONDO:0000654 benign connective and soft tissue neoplasm DOID DOID:0060123 one_to_one @@ -2034,7 +2050,7 @@ MONDO:0000700 familial hemiplegic migraine HP HP:0001269,HP:0001289,HP:0001324,H MONDO:0000700 familial hemiplegic migraine ICD10 ICD10:G43.8 one_to_one MONDO:0000700 familial hemiplegic migraine ICD9 ICD9:346.8 one_to_one MONDO:0000700 familial hemiplegic migraine MONDO MONDO:0021152 has_modifier -MONDO:0000700 familial hemiplegic migraine MONDO MONDO:0003847,MONDO:0015954,MONDO:0016517,MONDO:0023310 subclass +MONDO:0000700 familial hemiplegic migraine MONDO MONDO:0002320,MONDO:0003847,MONDO:0015954,MONDO:0016517,MONDO:0023310 subclass MONDO:0000700 familial hemiplegic migraine NCIT NCIT:C117009 one_to_one MONDO:0000700 familial hemiplegic migraine SCTID SCTID:95656000 one_to_one MONDO:0000701 ischemic colitis DOID DOID:0060181 one_to_one @@ -2132,10 +2148,11 @@ MONDO:0000721 xanthinuria OMIMPS OMIMPS:278300 one_to_one MONDO:0000721 xanthinuria SCTID SCTID:190919008 one_to_one MONDO:0000722 non-syndromic synpolydactyly DOID DOID:0060242 one_to_one MONDO:0000722 non-syndromic synpolydactyly MONDO MONDO:0021128 has_modifier -MONDO:0000722 non-syndromic synpolydactyly MONDO MONDO:0019530,MONDO:0021651 subclass +MONDO:0000722 non-syndromic synpolydactyly MONDO MONDO:0011348,MONDO:0019530,MONDO:0021651 subclass MONDO:0000723 stutter disorder DOID DOID:0060243 one_to_one MONDO:0000723 stutter disorder ICD10 ICD10:F80.81 one_to_one -MONDO:0000723 stutter disorder MONDO MONDO:0002903 subclass +MONDO:0000723 stutter disorder MONDO MONDO:0002903 excluded_subClassOf +MONDO:0000723 stutter disorder MONDO MONDO:0004730,MONDO:0004750 subclass MONDO:0000723 stutter disorder NCIT NCIT:C35043 one_to_one MONDO:0000723 stutter disorder OMIMPS OMIMPS:184450 one_to_one MONDO:0000724 specific language impairment DOID DOID:0060244 one_to_one @@ -2318,8 +2335,9 @@ MONDO:0000762 syndrome caused by partial chromosomal duplication MONDO MONDO:001 MONDO:0000762 syndrome caused by partial chromosomal duplication SO SO:1000037 has_modifier MONDO:0000763 epithelial and subepithelial corneal dystrophy DOID DOID:0060440 one_to_one MONDO:0000763 epithelial and subepithelial corneal dystrophy MONDO MONDO:0018102 subclass -MONDO:0000764 epithelial-stromal TGFB1 dystrophy DOID DOID:0060441 one_to_one -MONDO:0000764 epithelial-stromal TGFB1 dystrophy MONDO MONDO:0018102 subclass +MONDO:0000764 epithelial-stromal TGFBI dystrophy DOID DOID:0060441 one_to_one +MONDO:0000764 epithelial-stromal TGFBI dystrophy MONDO MONDO:0018102 subclass +MONDO:0000764 epithelial-stromal TGFBI dystrophy http http://identifiers.org/hgnc/7045 disease_has_basis_in_dysfunction_of MONDO:0000766 corneal endothelial dystrophy COHD COHD:443740 one_to_one MONDO:0000766 corneal endothelial dystrophy DOID DOID:0060443 one_to_one MONDO:0000766 corneal endothelial dystrophy ICD9 ICD9:371.57 inexact @@ -2537,8 +2555,13 @@ MONDO:0000837 bone resorption disease DOID DOID:0080011 one_to_one MONDO:0000837 bone resorption disease GO GO:0045453 disease_disrupts MONDO:0000837 bone resorption disease MESH MESH:D001862 one_to_one MONDO:0000837 bone resorption disease MONDO MONDO:0000833 subclass -MONDO:0000839 physical disorder DOID DOID:0080015 one_to_one -MONDO:0000839 physical disorder MONDO MONDO:0000001 subclass +MONDO:0000839 congenital abnormality DOID DOID:0080015 one_to_one +MONDO:0000839 congenital abnormality ICD10 ICD10:Q00.Q99 one_to_one +MONDO:0000839 congenital abnormality ICD9 ICD9:759.89,ICD9:759.9 inexact +MONDO:0000839 congenital abnormality MONDO MONDO:0021140 has_modifier +MONDO:0000839 congenital abnormality MONDO MONDO:0000001 subclass +MONDO:0000839 congenital abnormality NCIT NCIT:C2849 one_to_one +MONDO:0000839 congenital abnormality SCTID SCTID:276654001 one_to_one MONDO:0000840 dysbaric osteonecrosis DOID DOID:0080018 one_to_one MONDO:0000840 dysbaric osteonecrosis MONDO MONDO:0018373 subclass MONDO:0000840 dysbaric osteonecrosis SCTID SCTID:431591000124102 one_to_one @@ -2922,7 +2945,7 @@ MONDO:0000942 corneal disease DOID DOID:10124 one_to_one MONDO:0000942 corneal disease ICD10 ICD10:H18.9 one_to_one MONDO:0000942 corneal disease ICD9 ICD9:371.30,ICD9:371.89,ICD9:371.9 inexact MONDO:0000942 corneal disease MESH MESH:D003316 one_to_one -MONDO:0000942 corneal disease MONDO MONDO:0000001,MONDO:0002051,MONDO:0005328,MONDO:0045027 subclass +MONDO:0000942 corneal disease MONDO MONDO:0000001,MONDO:0002051,MONDO:0005328 subclass MONDO:0000942 corneal disease NCIT NCIT:C26731 one_to_one MONDO:0000942 corneal disease SCTID SCTID:15250008 one_to_one MONDO:0000942 corneal disease UBERON UBERON:0000964 disease_has_location @@ -3181,7 +3204,7 @@ MONDO:0000982 Brown's tendon sheath syndrome COHD COHD:76122 one_to_one MONDO:0000982 Brown's tendon sheath syndrome DOID DOID:10235 one_to_one MONDO:0000982 Brown's tendon sheath syndrome ICD10 ICD10:H50.61 one_to_one MONDO:0000982 Brown's tendon sheath syndrome ICD9 ICD9:378.61 one_to_one -MONDO:0000982 Brown's tendon sheath syndrome MONDO MONDO:0000462,MONDO:0004753,MONDO:0020120,MONDO:0100010 subclass +MONDO:0000982 Brown's tendon sheath syndrome MONDO MONDO:0000462,MONDO:0004753,MONDO:0020120,MONDO:0024458,MONDO:0100010 subclass MONDO:0000982 Brown's tendon sheath syndrome SCTID SCTID:35929003 one_to_one MONDO:0000982 Brown's tendon sheath syndrome UBERON UBERON:0006321 disease_has_location MONDO:0000982 Brown's tendon sheath syndrome UMLS UMLS:C0155339 one_to_one @@ -3276,7 +3299,7 @@ MONDO:0000995 familial periodic paralysis GARD GARD:0006422 one_to_one MONDO:0000995 familial periodic paralysis ICD10 ICD10:G72.3 inexact MONDO:0000995 familial periodic paralysis MESH MESH:D010245 one_to_one MONDO:0000995 familial periodic paralysis MONDO MONDO:0021152 has_modifier -MONDO:0000995 familial periodic paralysis MONDO MONDO:0004689,MONDO:0016122,MONDO:0020123 subclass +MONDO:0000995 familial periodic paralysis MONDO MONDO:0002320,MONDO:0004689,MONDO:0016122,MONDO:0020123 subclass MONDO:0000995 familial periodic paralysis NCIT NCIT:C84709 one_to_one MONDO:0000995 familial periodic paralysis Orphanet Orphanet:371433 one_to_one MONDO:0000995 familial periodic paralysis SCTID SCTID:267607008 one_to_one @@ -3475,7 +3498,7 @@ MONDO:0001029 Klippel-Feil syndrome GARD GARD:0010280 one_to_one MONDO:0001029 Klippel-Feil syndrome ICD10 ICD10:Q76.1 inexact MONDO:0001029 Klippel-Feil syndrome ICD9 ICD9:756.16 one_to_one MONDO:0001029 Klippel-Feil syndrome MESH MESH:D007714 one_to_one -MONDO:0001029 Klippel-Feil syndrome MONDO MONDO:0000839,MONDO:0019711 subclass +MONDO:0001029 Klippel-Feil syndrome MONDO MONDO:0019711 subclass MONDO:0001029 Klippel-Feil syndrome NCIT NCIT:C98967 one_to_one MONDO:0001029 Klippel-Feil syndrome OMIMPS OMIMPS:118100 one_to_one MONDO:0001029 Klippel-Feil syndrome SCTID SCTID:5601008 one_to_one @@ -3970,7 +3993,7 @@ MONDO:0001108 broad ligament malignant neoplasm COHD COHD:40486213 one_to_one MONDO:0001108 broad ligament malignant neoplasm DOID DOID:10744 one_to_one MONDO:0001108 broad ligament malignant neoplasm ICD10 ICD10:C57.1 one_to_one MONDO:0001108 broad ligament malignant neoplasm ICD9 ICD9:183.3 one_to_one -MONDO:0001108 broad ligament malignant neoplasm MONDO MONDO:0001351,MONDO:0004992 subclass +MONDO:0001108 broad ligament malignant neoplasm MONDO MONDO:0001351,MONDO:0004992,MONDO:0045043 subclass MONDO:0001108 broad ligament malignant neoplasm SCTID SCTID:449259009 one_to_one MONDO:0001108 broad ligament malignant neoplasm UBERON UBERON:0012332 disease_has_location MONDO:0001108 broad ligament malignant neoplasm UMLS UMLS:C0346866 one_to_one @@ -4212,27 +4235,31 @@ MONDO:0001142 salivary gland disease NCIT NCIT:C26879 one_to_one MONDO:0001142 salivary gland disease SCTID SCTID:10890000 one_to_one MONDO:0001142 salivary gland disease UBERON UBERON:0001044 disease_has_location MONDO:0001142 salivary gland disease UMLS UMLS:C0036093 one_to_one -MONDO:0001143 paralytic squint COHD COHD:381862 one_to_one -MONDO:0001143 paralytic squint DOID DOID:10863 one_to_one -MONDO:0001143 paralytic squint ICD10 ICD10:H49,ICD10:H49.9 inexact -MONDO:0001143 paralytic squint ICD9 ICD9:378.5,ICD9:378.50 inexact -MONDO:0001143 paralytic squint MONDO MONDO:0003432 subclass -MONDO:0001143 paralytic squint SCTID SCTID:400942002 one_to_one -MONDO:0001143 paralytic squint UMLS UMLS:C0152221 one_to_one +MONDO:0001143 paralytic strabismus COHD COHD:381862 one_to_one +MONDO:0001143 paralytic strabismus DOID DOID:10863 one_to_one +MONDO:0001143 paralytic strabismus HP HP:0031775 one_to_one +MONDO:0001143 paralytic strabismus ICD10 ICD10:H49,ICD10:H49.9 inexact +MONDO:0001143 paralytic strabismus ICD9 ICD9:378.5,ICD9:378.50 inexact +MONDO:0001143 paralytic strabismus MONDO MONDO:0003432 subclass +MONDO:0001143 paralytic strabismus SCTID SCTID:400942002 one_to_one +MONDO:0001143 paralytic strabismus UMLS UMLS:C0152221 one_to_one MONDO:0001144 partial third-nerve palsy DOID DOID:10864 one_to_one MONDO:0001144 partial third-nerve palsy ICD9 ICD9:378.51 one_to_one -MONDO:0001144 partial third-nerve palsy MONDO MONDO:0001143,MONDO:0001309 subclass +MONDO:0001144 partial third-nerve palsy MONDO MONDO:0001143 excluded_subClassOf +MONDO:0001144 partial third-nerve palsy MONDO MONDO:0001309 subclass MONDO:0001144 partial third-nerve palsy SCTID SCTID:194118007 one_to_one MONDO:0001144 partial third-nerve palsy UMLS UMLS:C0271370 one_to_one MONDO:0001145 total third-nerve palsy DOID DOID:10866 one_to_one MONDO:0001145 total third-nerve palsy ICD9 ICD9:378.52 one_to_one -MONDO:0001145 total third-nerve palsy MONDO MONDO:0001143,MONDO:0001309 subclass +MONDO:0001145 total third-nerve palsy MONDO MONDO:0001143 excluded_subClassOf +MONDO:0001145 total third-nerve palsy MONDO MONDO:0001309 subclass MONDO:0001145 total third-nerve palsy SCTID SCTID:194119004 one_to_one MONDO:0001145 total third-nerve palsy UMLS UMLS:C0271371 one_to_one MONDO:0001146 fourth cranial nerve palsy COHD COHD:378439 one_to_one MONDO:0001146 fourth cranial nerve palsy DOID DOID:10869 one_to_one MONDO:0001146 fourth cranial nerve palsy ICD9 ICD9:378.53 inexact -MONDO:0001146 fourth cranial nerve palsy MONDO MONDO:0001143,MONDO:0002782,MONDO:0007002 subclass +MONDO:0001146 fourth cranial nerve palsy MONDO MONDO:0001143 excluded_subClassOf +MONDO:0001146 fourth cranial nerve palsy MONDO MONDO:0002782,MONDO:0007002 subclass MONDO:0001146 fourth cranial nerve palsy SCTID SCTID:20610004 one_to_one MONDO:0001146 fourth cranial nerve palsy UBERON UBERON:0001644 disease_has_location MONDO:0001147 meningocele (disease) DOID DOID:1088 one_to_one @@ -4720,7 +4747,7 @@ MONDO:0001217 pseudomembranous conjunctivitis GARD GARD:0008446 one_to_one MONDO:0001217 pseudomembranous conjunctivitis ICD10 ICD10:H10.22 one_to_one MONDO:0001217 pseudomembranous conjunctivitis ICD9 ICD9:372.04 one_to_one MONDO:0001217 pseudomembranous conjunctivitis MONDO MONDO:0003799 disease_has_feature -MONDO:0001217 pseudomembranous conjunctivitis MONDO MONDO:0001214,MONDO:0002254,MONDO:0005504,MONDO:0006668 subclass +MONDO:0001217 pseudomembranous conjunctivitis MONDO MONDO:0001214,MONDO:0002254,MONDO:0006668 subclass MONDO:0001217 pseudomembranous conjunctivitis NCIT NCIT:C35196 one_to_one MONDO:0001217 pseudomembranous conjunctivitis SCTID SCTID:72115001 one_to_one MONDO:0001217 pseudomembranous conjunctivitis UMLS UMLS:C0155144 one_to_one @@ -4757,7 +4784,8 @@ MONDO:0001221 esophageal varices NCIT NCIT:C53506 one_to_one MONDO:0001221 esophageal varices SCTID SCTID:28670008 one_to_one MONDO:0001221 esophageal varices UBERON UBERON:0001043 disease_has_location MONDO:0001222 congenital T-cell immunodeficiency DOID DOID:11200 one_to_one -MONDO:0001222 congenital T-cell immunodeficiency MONDO MONDO:0003778,MONDO:0003780,MONDO:0003847 subclass +MONDO:0001222 congenital T-cell immunodeficiency MONDO MONDO:0003778 excluded_subClassOf +MONDO:0001222 congenital T-cell immunodeficiency MONDO MONDO:0003780,MONDO:0003847 subclass MONDO:0001222 congenital T-cell immunodeficiency NCIT NCIT:C27872 one_to_one MONDO:0001222 congenital T-cell immunodeficiency UMLS UMLS:C1333147 one_to_one MONDO:0001223 parathyroid gland disease COHD COHD:138713 one_to_one @@ -5416,8 +5444,9 @@ MONDO:0001317 phlyctenulosis MONDO MONDO:0004768 subclass MONDO:0001317 phlyctenulosis SCTID SCTID:67895005 one_to_one MONDO:0001317 phlyctenulosis UMLS UMLS:C0155080 one_to_one MONDO:0001318 functional gastric disease DOID DOID:1159 one_to_one -MONDO:0001318 functional gastric disease ICD9 ICD9:536.8 one_to_one +MONDO:0001318 functional gastric disease ICD9 ICD9:306.4,ICD9:536.8,ICD9:536.9 inexact MONDO:0001318 functional gastric disease MONDO MONDO:0004298 subclass +MONDO:0001318 functional gastric disease SCTID SCTID:150541000119104,SCTID:386211005 inexact MONDO:0001319 bladder lateral wall cancer COHD COHD:73153 one_to_one MONDO:0001319 bladder lateral wall cancer DOID DOID:11593 one_to_one MONDO:0001319 bladder lateral wall cancer ICD10 ICD10:C67.2 inexact @@ -5487,7 +5516,8 @@ MONDO:0001328 thyroid hormone resistance syndrome HP HP:0031097 disease_has_majo MONDO:0001328 thyroid hormone resistance syndrome ICD9 ICD9:259.8 inexact MONDO:0001328 thyroid hormone resistance syndrome MESH MESH:D018382 one_to_one MONDO:0001328 thyroid hormone resistance syndrome MONDO MONDO:0005333 disease_has_feature -MONDO:0001328 thyroid hormone resistance syndrome MONDO MONDO:0005420,MONDO:0044977 subclass +MONDO:0001328 thyroid hormone resistance syndrome MONDO MONDO:0005420 excluded_subClassOf +MONDO:0001328 thyroid hormone resistance syndrome MONDO MONDO:0044977,MONDO:0045046 subclass MONDO:0001328 thyroid hormone resistance syndrome SCTID SCTID:111567006 one_to_one MONDO:0001329 accommodative spasm DOID DOID:11637 one_to_one MONDO:0001329 accommodative spasm ICD10 ICD10:H52.53 one_to_one @@ -5531,7 +5561,7 @@ MONDO:0001334 hypertrichosis of eyelid DOID DOID:11669 one_to_one MONDO:0001334 hypertrichosis of eyelid ICD10 ICD10:H02.86 one_to_one MONDO:0001334 hypertrichosis of eyelid ICD9 ICD9:374.54 one_to_one MONDO:0001334 hypertrichosis of eyelid MONDO MONDO:0000941 excluded_subClassOf -MONDO:0001334 hypertrichosis of eyelid MONDO MONDO:0019280,MONDO:0020151 subclass +MONDO:0001334 hypertrichosis of eyelid MONDO MONDO:0002320,MONDO:0019280,MONDO:0020151 subclass MONDO:0001334 hypertrichosis of eyelid SCTID SCTID:79830009 one_to_one MONDO:0001334 hypertrichosis of eyelid UBERON UBERON:0001711 disease_has_location MONDO:0001334 hypertrichosis of eyelid UMLS UMLS:C0155213 one_to_one @@ -5629,7 +5659,7 @@ MONDO:0001351 uterine adnexa cancer MONDO MONDO:0002715 subclass MONDO:0001352 round ligament malignant neoplasm DOID DOID:11748 one_to_one MONDO:0001352 round ligament malignant neoplasm ICD10 ICD10:C57.2 one_to_one MONDO:0001352 round ligament malignant neoplasm ICD9 ICD9:183.5 one_to_one -MONDO:0001352 round ligament malignant neoplasm MONDO MONDO:0001351,MONDO:0002087,MONDO:0004992 subclass +MONDO:0001352 round ligament malignant neoplasm MONDO MONDO:0001351,MONDO:0002087,MONDO:0004992,MONDO:0045044 subclass MONDO:0001352 round ligament malignant neoplasm SCTID SCTID:188204000 one_to_one MONDO:0001352 round ligament malignant neoplasm UBERON UBERON:0006589 disease_has_location MONDO:0001352 round ligament malignant neoplasm UMLS UMLS:C0346867 one_to_one @@ -5675,14 +5705,6 @@ MONDO:0001358 bronchial disease NCIT NCIT:C34439 one_to_one MONDO:0001358 bronchial disease SCTID SCTID:41427001 one_to_one MONDO:0001358 bronchial disease UBERON UBERON:0002185 disease_has_location MONDO:0001358 bronchial disease UMLS UMLS:C0006261 one_to_one -MONDO:0001359 Kohler disease COHD COHD:435903 one_to_one -MONDO:0001359 Kohler disease DOID DOID:11760 one_to_one -MONDO:0001359 Kohler disease GARD GARD:0006842 one_to_one -MONDO:0001359 Kohler disease HP HP:0010885 disease_has_feature -MONDO:0001359 Kohler disease ICD9 ICD9:732.5 one_to_one -MONDO:0001359 Kohler disease MONDO MONDO:0018381 subclass -MONDO:0001359 Kohler disease SCTID SCTID:203392007 one_to_one -MONDO:0001359 Kohler disease UMLS UMLS:C0158444 one_to_one MONDO:0001360 blind hypotensive eye COHD COHD:378742 one_to_one MONDO:0001360 blind hypotensive eye DOID DOID:11766 one_to_one MONDO:0001360 blind hypotensive eye ICD9 ICD9:360.41 one_to_one @@ -5695,13 +5717,6 @@ MONDO:0001361 spontaneous ocular nystagmus ICD9 ICD9:379.53 one_to_one MONDO:0001361 spontaneous ocular nystagmus MONDO MONDO:0004843 subclass MONDO:0001361 spontaneous ocular nystagmus SCTID SCTID:45339001 one_to_one MONDO:0001361 spontaneous ocular nystagmus UMLS UMLS:C0271384 one_to_one -MONDO:0001362 leukocoria COHD COHD:373461 one_to_one -MONDO:0001362 leukocoria DOID DOID:11772 one_to_one -MONDO:0001362 leukocoria ICD10 ICD10:H44.53 one_to_one -MONDO:0001362 leukocoria ICD9 ICD9:360.44 one_to_one -MONDO:0001362 leukocoria MONDO MONDO:0004884 subclass -MONDO:0001362 leukocoria SCTID SCTID:1361009 one_to_one -MONDO:0001362 leukocoria UMLS UMLS:C0152458 one_to_one MONDO:0001363 blind hypertensive eye COHD COHD:377551 one_to_one MONDO:0001363 blind hypertensive eye DOID DOID:11776 one_to_one MONDO:0001363 blind hypertensive eye ICD9 ICD9:360.42 one_to_one @@ -5946,7 +5961,7 @@ MONDO:0001399 ureter leiomyoma NCIT NCIT:C6161 one_to_one MONDO:0001399 ureter leiomyoma UBERON UBERON:0000056 disease_has_location MONDO:0001399 ureter leiomyoma UMLS UMLS:C1336875 one_to_one MONDO:0001400 schwannoma of ureter DOID DOID:11888 one_to_one -MONDO:0001400 schwannoma of ureter MONDO MONDO:0001398,MONDO:0002546,MONDO:0004820,MONDO:0020032 subclass +MONDO:0001400 schwannoma of ureter MONDO MONDO:0000638,MONDO:0001398,MONDO:0002546,MONDO:0004820,MONDO:0020032 subclass MONDO:0001400 schwannoma of ureter NCIT NCIT:C6162 one_to_one MONDO:0001400 schwannoma of ureter UBERON UBERON:0000056 disease_has_location MONDO:0001400 schwannoma of ureter UMLS UMLS:C1336877 one_to_one @@ -6122,7 +6137,7 @@ MONDO:0001424 sarcoid meningitis DOID DOID:12055 one_to_one MONDO:0001424 sarcoid meningitis ICD10 ICD10:D86.81 one_to_one MONDO:0001424 sarcoid meningitis ICD9 ICD9:321.4 one_to_one MONDO:0001424 sarcoid meningitis MONDO MONDO:0004796 excluded_subClassOf -MONDO:0001424 sarcoid meningitis MONDO MONDO:0019338,MONDO:0024891 subclass +MONDO:0001424 sarcoid meningitis MONDO MONDO:0024891,MONDO:0045047 subclass MONDO:0001424 sarcoid meningitis SCTID SCTID:192673008 one_to_one MONDO:0001424 sarcoid meningitis UMLS UMLS:C0154648 one_to_one MONDO:0001426 mediastinum neurofibroma DOID DOID:12064 one_to_one @@ -6403,10 +6418,12 @@ MONDO:0001467 specific bursitis often of occupational origin ICD9 ICD9:727.2 one MONDO:0001467 specific bursitis often of occupational origin MONDO MONDO:0002471 subclass MONDO:0001467 specific bursitis often of occupational origin SCTID SCTID:42812006 one_to_one MONDO:0001467 specific bursitis often of occupational origin UMLS UMLS:C0158332 one_to_one -MONDO:0001468 Plica syndrome DOID DOID:12225 one_to_one -MONDO:0001468 Plica syndrome ICD10 ICD10:M67.5 one_to_one -MONDO:0001468 Plica syndrome ICD9 ICD9:727.83 one_to_one -MONDO:0001468 Plica syndrome MONDO MONDO:0006816 subclass +MONDO:0001468 synovial plica syndrome DOID DOID:12225 one_to_one +MONDO:0001468 synovial plica syndrome ICD10 ICD10:M67.5 one_to_one +MONDO:0001468 synovial plica syndrome ICD9 ICD9:727.83,ICD9:727.9 inexact +MONDO:0001468 synovial plica syndrome MONDO MONDO:0006816,MONDO:0044967 subclass +MONDO:0001468 synovial plica syndrome SCTID SCTID:240171001 one_to_one +MONDO:0001468 synovial plica syndrome UBERON UBERON:0001465,UBERON:0002018 disease_has_location MONDO:0001469 cascade stomach DOID DOID:12234 one_to_one MONDO:0001469 cascade stomach ICD10 ICD10:K31.2 one_to_one MONDO:0001469 cascade stomach ICD9 ICD9:537.6 one_to_one @@ -6530,7 +6547,7 @@ MONDO:0001488 anterior corneal pigmentation UMLS UMLS:C0155104 one_to_one MONDO:0001490 corneal granular dystrophy DOID DOID:12318 one_to_one MONDO:0001490 corneal granular dystrophy ICD10 ICD10:H18.53 one_to_one MONDO:0001490 corneal granular dystrophy ICD9 ICD9:371.53 one_to_one -MONDO:0001490 corneal granular dystrophy MONDO MONDO:0000764,MONDO:0003847 subclass +MONDO:0001490 corneal granular dystrophy MONDO MONDO:0000764,MONDO:0002320,MONDO:0003847 subclass MONDO:0001490 corneal granular dystrophy NCIT NCIT:C34651 one_to_one MONDO:0001490 corneal granular dystrophy SCTID SCTID:45283008 one_to_one MONDO:0001490 corneal granular dystrophy UMLS UMLS:C0018179 one_to_one @@ -6621,6 +6638,7 @@ MONDO:0001504 fetishism SCTID SCTID:59174009 one_to_one MONDO:0001505 alcoholic hepatitis COHD COHD:201343 one_to_one MONDO:0001505 alcoholic hepatitis CSP CSP:1754-6978 one_to_one MONDO:0001505 alcoholic hepatitis DOID DOID:12351 one_to_one +MONDO:0001505 alcoholic hepatitis ECTO ECTO:0001082 realized_in_response_to MONDO:0001505 alcoholic hepatitis ICD10 ICD10:K70.1 one_to_one MONDO:0001505 alcoholic hepatitis ICD9 ICD9:571.1 one_to_one MONDO:0001505 alcoholic hepatitis MESH MESH:D006519 one_to_one @@ -6891,7 +6909,7 @@ MONDO:0001543 lesion of sciatic nerve DOID DOID:12528 one_to_one MONDO:0001543 lesion of sciatic nerve ICD10 ICD10:G57.0,ICD10:G57.00 inexact MONDO:0001543 lesion of sciatic nerve ICD9 ICD9:355.0 one_to_one MONDO:0001543 lesion of sciatic nerve MONDO MONDO:0004797 excluded_subClassOf -MONDO:0001543 lesion of sciatic nerve MONDO MONDO:0006960,MONDO:0024334,MONDO:0024432 subclass +MONDO:0001543 lesion of sciatic nerve MONDO MONDO:0001829,MONDO:0006960,MONDO:0024334 subclass MONDO:0001543 lesion of sciatic nerve SCTID SCTID:367137004 one_to_one MONDO:0001543 lesion of sciatic nerve UBERON UBERON:0001322 disease_has_location MONDO:0001543 lesion of sciatic nerve UMLS UMLS:C0154748 one_to_one @@ -7029,10 +7047,11 @@ MONDO:0001563 vestibulocochlear nerve disease UBERON UBERON:0001648 disease_has_ MONDO:0001563 vestibulocochlear nerve disease UMLS UMLS:C0001163 one_to_one MONDO:0001564 binocular vision disease DOID DOID:12667 one_to_one MONDO:0001564 binocular vision disease ICD10 ICD10:H53.30 one_to_one -MONDO:0001564 binocular vision disease ICD9 ICD9:368.30,ICD9:368.32 inexact -MONDO:0001564 binocular vision disease MONDO MONDO:0003432 subclass +MONDO:0001564 binocular vision disease ICD9 ICD9:368.30 one_to_one +MONDO:0001564 binocular vision disease MONDO MONDO:0003432 excluded_subClassOf +MONDO:0001564 binocular vision disease MONDO MONDO:0021084 subclass MONDO:0001564 binocular vision disease NCIT NCIT:C34422 one_to_one -MONDO:0001564 binocular vision disease SCTID SCTID:8826001 one_to_one +MONDO:0001564 binocular vision disease SCTID SCTID:83275001 one_to_one MONDO:0001565 abnormal retinal correspondence DOID DOID:12668 one_to_one MONDO:0001565 abnormal retinal correspondence ICD10 ICD10:H53.31 one_to_one MONDO:0001565 abnormal retinal correspondence ICD9 ICD9:368.34 one_to_one @@ -7177,7 +7196,8 @@ MONDO:0001589 vaginal enterocele COHD COHD:4162218 one_to_one MONDO:0001589 vaginal enterocele DOID DOID:1283 one_to_one MONDO:0001589 vaginal enterocele ICD10 ICD10:K46,ICD10:N81.5 inexact MONDO:0001589 vaginal enterocele ICD9 ICD9:618.6 one_to_one -MONDO:0001589 vaginal enterocele MONDO MONDO:0001592,MONDO:0001593 subclass +MONDO:0001589 vaginal enterocele MONDO MONDO:0001593 excluded_subClassOf +MONDO:0001589 vaginal enterocele MONDO MONDO:0001433,MONDO:0001592,MONDO:0024583,MONDO:0024635 subclass MONDO:0001589 vaginal enterocele SCTID SCTID:398061002 one_to_one MONDO:0001590 quadriplegia COHD COHD:374914 one_to_one MONDO:0001590 quadriplegia DOID DOID:12835 one_to_one @@ -7274,8 +7294,6 @@ MONDO:0001604 lagophthalmos ICD9 ICD9:374.2,ICD9:374.20 inexact MONDO:0001604 lagophthalmos MONDO MONDO:0003382 subclass MONDO:0001604 lagophthalmos SCTID SCTID:60735000 one_to_one MONDO:0001604 lagophthalmos UMLS UMLS:C0152226 one_to_one -MONDO:0001605 subleukemic leukemia DOID DOID:12965 one_to_one -MONDO:0001605 subleukemic leukemia MONDO MONDO:0005059 subclass MONDO:0001606 central nervous system leukemia DOID DOID:12969 one_to_one MONDO:0001606 central nervous system leukemia MONDO MONDO:0003641,MONDO:0005059 subclass MONDO:0001606 central nervous system leukemia NCIT NCIT:C5440 one_to_one @@ -7683,9 +7701,10 @@ MONDO:0001667 streptobacillus infectious disease MONDO MONDO:0000314,MONDO:00216 MONDO:0001667 streptobacillus infectious disease NCBITaxon NCBITaxon:34104 realized_in_response_to_stimulus MONDO:0001667 streptobacillus infectious disease SCTID SCTID:721738002 one_to_one MONDO:0001667 streptobacillus infectious disease UMLS UMLS:C0947939 one_to_one -MONDO:0001668 internal pathological resorption DOID DOID:13239 one_to_one -MONDO:0001668 internal pathological resorption ICD9 ICD9:521.41 one_to_one -MONDO:0001668 internal pathological resorption MONDO MONDO:0001670 subclass +MONDO:0001668 internal pathological resorption of tooth DOID DOID:13239 one_to_one +MONDO:0001668 internal pathological resorption of tooth ICD9 ICD9:521.41 one_to_one +MONDO:0001668 internal pathological resorption of tooth MONDO MONDO:0001670 subclass +MONDO:0001668 internal pathological resorption of tooth SCTID SCTID:52994003 one_to_one MONDO:0001670 tooth resorption DOID DOID:13240 one_to_one MONDO:0001670 tooth resorption ICD10 ICD10:K03.3 inexact MONDO:0001670 tooth resorption ICD9 ICD9:521.4 one_to_one @@ -7901,7 +7920,7 @@ MONDO:0001705 pure red-cell aplasia NCIT NCIT:C34974 one_to_one MONDO:0001705 pure red-cell aplasia SCTID SCTID:50715003 one_to_one MONDO:0001705 pure red-cell aplasia UMLS UMLS:C0034902 one_to_one MONDO:0001706 cerebral sarcoidosis DOID DOID:13403 one_to_one -MONDO:0001706 cerebral sarcoidosis MONDO MONDO:0019338 subclass +MONDO:0001706 cerebral sarcoidosis MONDO MONDO:0005560,MONDO:0019338,MONDO:0045047 subclass MONDO:0001706 cerebral sarcoidosis NCIT NCIT:C35441 one_to_one MONDO:0001706 cerebral sarcoidosis SCTID SCTID:111936002 one_to_one MONDO:0001706 cerebral sarcoidosis UBERON UBERON:0001893 disease_has_location @@ -8097,7 +8116,7 @@ MONDO:0001734 tuberous sclerosis SCTID SCTID:7199000 one_to_one MONDO:0001735 paranasal sinus disease DOID DOID:1352 one_to_one MONDO:0001735 paranasal sinus disease ICD9 ICD9:478.1 inexact MONDO:0001735 paranasal sinus disease MESH MESH:D010254 one_to_one -MONDO:0001735 paranasal sinus disease MONDO MONDO:0000001,MONDO:0002436,MONDO:0024654 subclass +MONDO:0001735 paranasal sinus disease MONDO MONDO:0000001,MONDO:0002436,MONDO:0005087,MONDO:0024654 subclass MONDO:0001735 paranasal sinus disease NCIT NCIT:C26843 one_to_one MONDO:0001735 paranasal sinus disease SCTID SCTID:7393007 one_to_one MONDO:0001735 paranasal sinus disease UBERON UBERON:0001825 disease_has_location @@ -8147,7 +8166,8 @@ MONDO:0001742 interval angle-closure glaucoma MONDO MONDO:0001868 subclass MONDO:0001742 interval angle-closure glaucoma SCTID SCTID:65460003 one_to_one MONDO:0001742 interval angle-closure glaucoma UMLS UMLS:C0154945 one_to_one MONDO:0001743 paranasal sinus lymphoma DOID DOID:1355 one_to_one -MONDO:0001743 paranasal sinus lymphoma MONDO MONDO:0000380,MONDO:0000621,MONDO:0005062,MONDO:0017814,MONDO:0020008 subclass +MONDO:0001743 paranasal sinus lymphoma MONDO MONDO:0000380 excluded_subClassOf +MONDO:0001743 paranasal sinus lymphoma MONDO MONDO:0005062,MONDO:0005289,MONDO:0017371,MONDO:0019684,MONDO:0020000,MONDO:0020036 subclass MONDO:0001743 paranasal sinus lymphoma NCIT NCIT:C6068 one_to_one MONDO:0001743 paranasal sinus lymphoma UBERON UBERON:0001825 disease_has_location MONDO:0001743 paranasal sinus lymphoma UMLS UMLS:C1335339 one_to_one @@ -8187,8 +8207,9 @@ MONDO:0001748 maxillary sinus carcinoma UBERON UBERON:0001764 disease_has_locati MONDO:0001749 cortical senile cataract COHD COHD:432895 one_to_one MONDO:0001749 cortical senile cataract DOID DOID:13574 one_to_one MONDO:0001749 cortical senile cataract ICD9 ICD9:366.15 one_to_one -MONDO:0001749 cortical senile cataract MONDO MONDO:0004847 subclass +MONDO:0001749 cortical senile cataract MONDO MONDO:0004847,MONDO:0045051 subclass MONDO:0001749 cortical senile cataract SCTID SCTID:78875003 one_to_one +MONDO:0001749 cortical senile cataract UBERON UBERON:0000389 disease_has_location MONDO:0001749 cortical senile cataract UMLS UMLS:C0154980 one_to_one MONDO:0001750 non-renal secondary hyperparathyroidism DOID DOID:13575 one_to_one MONDO:0001750 non-renal secondary hyperparathyroidism ICD9 ICD9:252.02 one_to_one @@ -8221,7 +8242,8 @@ MONDO:0001754 eclampsia GARD GARD:0006316 one_to_one MONDO:0001754 eclampsia ICD10 ICD10:O15,ICD10:O15.9 inexact MONDO:0001754 eclampsia ICD9 ICD9:642.64 one_to_one MONDO:0001754 eclampsia MESH MESH:D004461 one_to_one -MONDO:0001754 eclampsia MONDO MONDO:0005081 subclass +MONDO:0001754 eclampsia MONDO MONDO:0005081 excluded_subClassOf +MONDO:0001754 eclampsia MONDO MONDO:0045048 subclass MONDO:0001754 eclampsia NCIT NCIT:C87167 one_to_one MONDO:0001754 eclampsia SCTID SCTID:303063000 one_to_one MONDO:0001754 eclampsia UMLS UMLS:C0013537,UMLS:C0156678 inexact @@ -8262,7 +8284,8 @@ MONDO:0001761 favism SCTID SCTID:191172001 one_to_one MONDO:0001761 favism UMLS UMLS:C0015702 one_to_one MONDO:0001762 dentine erosion DOID DOID:13629 one_to_one MONDO:0001762 dentine erosion ICD9 ICD9:521.32 one_to_one -MONDO:0001762 dentine erosion MONDO MONDO:0002325 subclass +MONDO:0001762 dentine erosion MONDO MONDO:0002325,MONDO:0003900 subclass +MONDO:0001762 dentine erosion UBERON UBERON:0001751 disease_has_location MONDO:0001763 ethmoid sinus cancer DOID DOID:1363 one_to_one MONDO:0001763 ethmoid sinus cancer ICD10 ICD10:C31.1 one_to_one MONDO:0001763 ethmoid sinus cancer ICD9 ICD9:160.3 one_to_one @@ -8374,11 +8397,12 @@ MONDO:0001779 vaginal squamous papilloma UBERON UBERON:0000996 disease_has_locat MONDO:0001779 vaginal squamous papilloma UMLS UMLS:C1336943 one_to_one MONDO:0001780 premature ejaculation (disease) COHD COHD:434319 one_to_one MONDO:0001780 premature ejaculation (disease) DOID DOID:13709 one_to_one +MONDO:0001780 premature ejaculation (disease) GO GO:0042713 disease_disrupts MONDO:0001780 premature ejaculation (disease) HP HP:0012876 one_to_one MONDO:0001780 premature ejaculation (disease) ICD10 ICD10:F52.4 one_to_one MONDO:0001780 premature ejaculation (disease) ICD9 ICD9:302.75 one_to_one MONDO:0001780 premature ejaculation (disease) MESH MESH:D061686 one_to_one -MONDO:0001780 premature ejaculation (disease) MONDO MONDO:0000947 subclass +MONDO:0001780 premature ejaculation (disease) MONDO MONDO:0000595 subclass MONDO:0001780 premature ejaculation (disease) NCIT NCIT:C94349 one_to_one MONDO:0001781 uterine corpus adenomatoid tumor DOID DOID:1371 one_to_one MONDO:0001781 uterine corpus adenomatoid tumor MONDO MONDO:0002373,MONDO:0004230,MONDO:0021525 subclass @@ -8388,8 +8412,9 @@ MONDO:0001781 uterine corpus adenomatoid tumor UMLS UMLS:C1336902 one_to_one MONDO:0001782 mature cataract COHD COHD:377285 one_to_one MONDO:0001782 mature cataract DOID DOID:13717 one_to_one MONDO:0001782 mature cataract ICD9 ICD9:366.17 one_to_one -MONDO:0001782 mature cataract MONDO MONDO:0004847 subclass -MONDO:0001782 mature cataract SCTID SCTID:193590000 one_to_one +MONDO:0001782 mature cataract MONDO MONDO:0004847 excluded_subClassOf +MONDO:0001782 mature cataract MONDO MONDO:0005129 subclass +MONDO:0001782 mature cataract SCTID SCTID:849000 one_to_one MONDO:0001783 endometrial stromal nodule DOID DOID:1373 one_to_one MONDO:0001783 endometrial stromal nodule EFO EFO:1000241 one_to_one MONDO:0001783 endometrial stromal nodule ICDO ICDO:8930/0 one_to_one @@ -8574,7 +8599,8 @@ MONDO:0001810 hypoglossal nerve disease DOID DOID:13814 one_to_one MONDO:0001810 hypoglossal nerve disease ICD10 ICD10:G52.3 one_to_one MONDO:0001810 hypoglossal nerve disease ICD9 ICD9:352.5 one_to_one MONDO:0001810 hypoglossal nerve disease MESH MESH:D020437 one_to_one -MONDO:0001810 hypoglossal nerve disease MONDO MONDO:0000001,MONDO:0002639 subclass +MONDO:0001810 hypoglossal nerve disease MONDO MONDO:0002639 excluded_subClassOf +MONDO:0001810 hypoglossal nerve disease MONDO MONDO:0000001,MONDO:0003569,MONDO:0003620 subclass MONDO:0001810 hypoglossal nerve disease NCIT NCIT:C26954 one_to_one MONDO:0001810 hypoglossal nerve disease SCTID SCTID:24777009 one_to_one MONDO:0001810 hypoglossal nerve disease UBERON UBERON:0001650 disease_has_location @@ -8656,12 +8682,14 @@ MONDO:0001822 hypolipoproteinemia (disease) MONDO MONDO:0002525 subclass MONDO:0001822 hypolipoproteinemia (disease) SCTID SCTID:363140000 one_to_one MONDO:0001823 sick sinus syndrome COHD COHD:4261842 one_to_one MONDO:0001823 sick sinus syndrome DOID DOID:13884 one_to_one +MONDO:0001823 sick sinus syndrome HP HP:0011675 disease_has_feature MONDO:0001823 sick sinus syndrome ICD10 ICD10:I49.5 inexact MONDO:0001823 sick sinus syndrome MESH MESH:D012804 one_to_one MONDO:0001823 sick sinus syndrome MONDO MONDO:0000469,MONDO:0002254 subclass MONDO:0001823 sick sinus syndrome NCIT NCIT:C62244 one_to_one MONDO:0001823 sick sinus syndrome OMIMPS OMIMPS:608567 one_to_one MONDO:0001823 sick sinus syndrome SCTID SCTID:36083008 one_to_one +MONDO:0001823 sick sinus syndrome UBERON UBERON:0002351 disease_has_basis_in_dysfunction_of MONDO:0001824 polyneuropathy COHD COHD:4174262 one_to_one MONDO:0001824 polyneuropathy DOID DOID:1389 one_to_one MONDO:0001824 polyneuropathy ICD10 ICD10:A69.22,ICD10:G62.9 inexact @@ -8698,6 +8726,7 @@ MONDO:0001829 lumbosacral plexus lesion DOID DOID:13913 one_to_one MONDO:0001829 lumbosacral plexus lesion ICD9 ICD9:353.1 one_to_one MONDO:0001829 lumbosacral plexus lesion MONDO MONDO:0024432 subclass MONDO:0001829 lumbosacral plexus lesion SCTID SCTID:4062006 one_to_one +MONDO:0001829 lumbosacral plexus lesion UBERON UBERON:0001815 disease_has_location MONDO:0001829 lumbosacral plexus lesion UMLS UMLS:C0154735 one_to_one MONDO:0001830 somatization disorder COHD COHD:441545 one_to_one MONDO:0001830 somatization disorder DOID DOID:13918 one_to_one @@ -8793,13 +8822,15 @@ MONDO:0001846 uterine corpus bizarre leiomyoma UMLS UMLS:C1519853 one_to_one MONDO:0001847 nuclear senile cataract COHD COHD:439297 one_to_one MONDO:0001847 nuclear senile cataract DOID DOID:13963 one_to_one MONDO:0001847 nuclear senile cataract ICD9 ICD9:366.16 one_to_one -MONDO:0001847 nuclear senile cataract MONDO MONDO:0004847 subclass +MONDO:0001847 nuclear senile cataract MONDO MONDO:0004847,MONDO:0045050 subclass MONDO:0001847 nuclear senile cataract SCTID SCTID:193589009 one_to_one +MONDO:0001847 nuclear senile cataract UBERON UBERON:0000390 disease_has_location MONDO:0001848 Morgagni cataract COHD COHD:379811 one_to_one MONDO:0001848 Morgagni cataract DOID DOID:13964 one_to_one -MONDO:0001848 Morgagni cataract ICD9 ICD9:366.18 one_to_one -MONDO:0001848 Morgagni cataract MONDO MONDO:0004847 subclass -MONDO:0001848 Morgagni cataract SCTID SCTID:267626000 one_to_one +MONDO:0001848 Morgagni cataract ICD9 ICD9:366.18 inexact +MONDO:0001848 Morgagni cataract MONDO MONDO:0004847 excluded_subClassOf +MONDO:0001848 Morgagni cataract MONDO MONDO:0045049 subclass +MONDO:0001848 Morgagni cataract SCTID SCTID:264443002 one_to_one MONDO:0001848 Morgagni cataract UMLS UMLS:C0152258 one_to_one MONDO:0001849 chronic orbital inflammation COHD COHD:433773 one_to_one MONDO:0001849 chronic orbital inflammation DOID DOID:1397 one_to_one @@ -8911,7 +8942,8 @@ MONDO:0001867 phaeohyphomycosis DOID DOID:14049 one_to_one MONDO:0001867 phaeohyphomycosis GARD GARD:0012803 one_to_one MONDO:0001867 phaeohyphomycosis ICD9 ICD9:117.8 one_to_one MONDO:0001867 phaeohyphomycosis MESH MESH:D060446 one_to_one -MONDO:0001867 phaeohyphomycosis MONDO MONDO:0000308 subclass +MONDO:0001867 phaeohyphomycosis MONDO MONDO:0000308 excluded_subClassOf +MONDO:0001867 phaeohyphomycosis MONDO MONDO:0002312 subclass MONDO:0001867 phaeohyphomycosis NCBITaxon NCBITaxon:5498,NCBITaxon:5579,NCBITaxon:5598,NCBITaxon:5600,NCBITaxon:5970,NCBITaxon:66225,NCBITaxon:86056,NCBITaxon:89940,NCBITaxon:91493 realized_in_response_to_stimulus MONDO:0001867 phaeohyphomycosis SCTID SCTID:47158003 one_to_one MONDO:0001868 primary angle-closure glaucoma COHD COHD:435543 one_to_one @@ -8940,13 +8972,6 @@ MONDO:0001871 acute diffuse glomerulonephritis NCIT NCIT:C35587 one_to_one MONDO:0001871 acute diffuse glomerulonephritis PATO PATO:0000389 has_modifier MONDO:0001871 acute diffuse glomerulonephritis SCTID SCTID:197585004 one_to_one MONDO:0001871 acute diffuse glomerulonephritis UMLS UMLS:C0341689 one_to_one -MONDO:0001872 vestibular nystagmus (disease) COHD COHD:377568 one_to_one -MONDO:0001872 vestibular nystagmus (disease) DOID DOID:14070 one_to_one -MONDO:0001872 vestibular nystagmus (disease) HP HP:0010542 one_to_one -MONDO:0001872 vestibular nystagmus (disease) ICD9 ICD9:379.54 one_to_one -MONDO:0001872 vestibular nystagmus (disease) MONDO MONDO:0001524 subclass -MONDO:0001872 vestibular nystagmus (disease) SCTID SCTID:46888001 one_to_one -MONDO:0001872 vestibular nystagmus (disease) UMLS UMLS:C0155379 one_to_one MONDO:0001873 geniculate ganglionitis COHD COHD:376963 one_to_one MONDO:0001873 geniculate ganglionitis DOID DOID:14075 one_to_one MONDO:0001873 geniculate ganglionitis ICD10 ICD10:G51.1 one_to_one @@ -9046,12 +9071,12 @@ MONDO:0001886 midline cystocele ICD9 ICD9:618.01 one_to_one MONDO:0001886 midline cystocele MONDO MONDO:0001592 subclass MONDO:0001886 midline cystocele SCTID SCTID:423633003 one_to_one MONDO:0001886 midline cystocele UMLS UMLS:C1456248 one_to_one -MONDO:0001887 Masters-Allen syndrome COHD COHD:193523 one_to_one -MONDO:0001887 Masters-Allen syndrome DOID DOID:14133 one_to_one -MONDO:0001887 Masters-Allen syndrome ICD9 ICD9:620.6 one_to_one -MONDO:0001887 Masters-Allen syndrome MONDO MONDO:0002263 subclass -MONDO:0001887 Masters-Allen syndrome SCTID SCTID:69186005 one_to_one -MONDO:0001887 Masters-Allen syndrome UMLS UMLS:C0152079 one_to_one +MONDO:0001887 Allen-Masters syndrome COHD COHD:193523 one_to_one +MONDO:0001887 Allen-Masters syndrome DOID DOID:14133 one_to_one +MONDO:0001887 Allen-Masters syndrome ICD9 ICD9:620.6 one_to_one +MONDO:0001887 Allen-Masters syndrome MONDO MONDO:0002263,MONDO:0045043 subclass +MONDO:0001887 Allen-Masters syndrome SCTID SCTID:69186005 one_to_one +MONDO:0001887 Allen-Masters syndrome UMLS UMLS:C0152079 one_to_one MONDO:0001888 anus lymphoma DOID DOID:14139 one_to_one MONDO:0001888 anus lymphoma MONDO MONDO:0001879,MONDO:0002166,MONDO:0005062 subclass MONDO:0001888 anus lymphoma NCIT NCIT:C5601 one_to_one @@ -9066,7 +9091,8 @@ MONDO:0001889 ovarian dysfunction NCIT NCIT:C113351 one_to_one MONDO:0001889 ovarian dysfunction SCTID SCTID:37102008 one_to_one MONDO:0001890 pulp erosion DOID DOID:14140 one_to_one MONDO:0001890 pulp erosion ICD9 ICD9:521.33 one_to_one -MONDO:0001890 pulp erosion MONDO MONDO:0002325 subclass +MONDO:0001890 pulp erosion MONDO MONDO:0002325,MONDO:0003394 subclass +MONDO:0001890 pulp erosion UBERON UBERON:0001754 disease_has_location MONDO:0001892 spinal cord lymphoma DOID DOID:14150 one_to_one MONDO:0001892 spinal cord lymphoma MONDO MONDO:0002571,MONDO:0003544,MONDO:0005062 subclass MONDO:0001892 spinal cord lymphoma NCIT NCIT:C5157 one_to_one @@ -9117,17 +9143,20 @@ MONDO:0001899 rheumatic congestive heart failure ICD9 ICD9:398.91 one_to_one MONDO:0001899 rheumatic congestive heart failure MONDO MONDO:0005009,MONDO:0006955 subclass MONDO:0001899 rheumatic congestive heart failure SCTID SCTID:82523003 one_to_one MONDO:0001899 rheumatic congestive heart failure UMLS UMLS:C0155582 one_to_one -MONDO:0001901 selective IgG deficiency disease DOID DOID:14176 one_to_one -MONDO:0001901 selective IgG deficiency disease ICD10 ICD10:D80.3 inexact -MONDO:0001901 selective IgG deficiency disease ICD9 ICD9:279.03 inexact -MONDO:0001901 selective IgG deficiency disease MESH MESH:D017099 one_to_one -MONDO:0001901 selective IgG deficiency disease MONDO MONDO:0001342 subclass -MONDO:0001901 selective IgG deficiency disease NCIT NCIT:C27024 one_to_one -MONDO:0001901 selective IgG deficiency disease SCTID SCTID:190981001 one_to_one -MONDO:0001902 congenital hypogammaglobulinemia DOID DOID:14177 one_to_one -MONDO:0001902 congenital hypogammaglobulinemia ICD9 ICD9:279.04 one_to_one -MONDO:0001902 congenital hypogammaglobulinemia MONDO MONDO:0002211 subclass -MONDO:0001902 congenital hypogammaglobulinemia UMLS UMLS:C1457897 one_to_one +MONDO:0001901 selective IgG subclass deficiency DOID DOID:14176 one_to_one +MONDO:0001901 selective IgG subclass deficiency ICD10 ICD10:D80.3 inexact +MONDO:0001901 selective IgG subclass deficiency ICD9 ICD9:279.03 inexact +MONDO:0001901 selective IgG subclass deficiency MESH MESH:D017099 one_to_one +MONDO:0001901 selective IgG subclass deficiency MONDO MONDO:0001342 excluded_subClassOf +MONDO:0001901 selective IgG subclass deficiency MONDO MONDO:0015549,MONDO:0015697,MONDO:0045045 subclass +MONDO:0001901 selective IgG subclass deficiency NCIT NCIT:C27024 one_to_one +MONDO:0001901 selective IgG subclass deficiency SCTID SCTID:190981001 one_to_one +MONDO:0001902 congenital agammaglobulinemia DOID DOID:14177 one_to_one +MONDO:0001902 congenital agammaglobulinemia ICD9 ICD9:279.04 one_to_one +MONDO:0001902 congenital agammaglobulinemia MONDO MONDO:0002211 excluded_subClassOf +MONDO:0001902 congenital agammaglobulinemia MONDO MONDO:0021140 has_modifier +MONDO:0001902 congenital agammaglobulinemia MONDO MONDO:0015977 subclass +MONDO:0001902 congenital agammaglobulinemia UMLS UMLS:C1457897 one_to_one MONDO:0001903 calcific tendinitis DOID DOID:14181 one_to_one MONDO:0001903 calcific tendinitis ICD10 ICD10:M65.2,ICD10:M75.3 inexact MONDO:0001903 calcific tendinitis ICD9 ICD9:726.11 one_to_one @@ -9138,7 +9167,8 @@ MONDO:0001904 polyneuropathy due to drug COHD COHD:381551 one_to_one MONDO:0001904 polyneuropathy due to drug DOID DOID:14184 one_to_one MONDO:0001904 polyneuropathy due to drug ICD10 ICD10:G62.0 one_to_one MONDO:0001904 polyneuropathy due to drug ICD9 ICD9:357.6 one_to_one -MONDO:0001904 polyneuropathy due to drug MONDO MONDO:0002336 subclass +MONDO:0001904 polyneuropathy due to drug MONDO MONDO:0002336 excluded_subClassOf +MONDO:0001904 polyneuropathy due to drug MONDO MONDO:0001824 subclass MONDO:0001904 polyneuropathy due to drug SCTID SCTID:7339009 one_to_one MONDO:0001904 polyneuropathy due to drug UMLS UMLS:C0154762 one_to_one MONDO:0001905 bicipital tenosynovitis COHD COHD:78237 one_to_one @@ -9151,7 +9181,7 @@ MONDO:0001906 posterior dislocation of lens COHD COHD:374363 one_to_one MONDO:0001906 posterior dislocation of lens DOID DOID:14199 one_to_one MONDO:0001906 posterior dislocation of lens ICD10 ICD10:H27.13 one_to_one MONDO:0001906 posterior dislocation of lens ICD9 ICD9:379.34 one_to_one -MONDO:0001906 posterior dislocation of lens MONDO MONDO:0001524 subclass +MONDO:0001906 posterior dislocation of lens MONDO MONDO:0001176,MONDO:0001524 subclass MONDO:0001906 posterior dislocation of lens SCTID SCTID:14169000 one_to_one MONDO:0001906 posterior dislocation of lens UMLS UMLS:C0155373 one_to_one MONDO:0001907 adult dermatomyositis DOID DOID:14202 one_to_one @@ -9274,6 +9304,7 @@ MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium DOI MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium ICD10 ICD10:H35.54 one_to_one MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium ICD9 ICD9:362.76 inexact MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium MONDO MONDO:0019118 subclass +MONDO:0001924 dystrophies primarily involving the retinal pigment epithelium UBERON UBERON:0001782 disease_has_location MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses DOID DOID:14253 one_to_one MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses ICD9 ICD9:362.71 one_to_one MONDO:0001925 retinal dystrophy in systemic or cerebroretinal lipidoses MONDO MONDO:0019118 subclass @@ -9481,7 +9512,8 @@ MONDO:0001957 critical illness polyneuropathy COHD COHD:374032 one_to_one MONDO:0001957 critical illness polyneuropathy DOID DOID:14402 one_to_one MONDO:0001957 critical illness polyneuropathy ICD10 ICD10:G62.81 one_to_one MONDO:0001957 critical illness polyneuropathy ICD9 ICD9:357.82 one_to_one -MONDO:0001957 critical illness polyneuropathy MONDO MONDO:0002336 subclass +MONDO:0001957 critical illness polyneuropathy MONDO MONDO:0002336 excluded_subClassOf +MONDO:0001957 critical illness polyneuropathy MONDO MONDO:0001824 subclass MONDO:0001957 critical illness polyneuropathy SCTID SCTID:230594005 one_to_one MONDO:0001957 critical illness polyneuropathy UMLS UMLS:C0393851 one_to_one MONDO:0001959 labyrinthine bilateral reactive loss DOID DOID:14413 one_to_one @@ -9783,6 +9815,7 @@ MONDO:0002017 olivopontocerebellar atrophy GARD GARD:0007250 one_to_one MONDO:0002017 olivopontocerebellar atrophy ICD10 ICD10:G23.8 inexact MONDO:0002017 olivopontocerebellar atrophy ICD9 ICD9:333.0 inexact MONDO:0002017 olivopontocerebellar atrophy MESH MESH:D009849 one_to_one +MONDO:0002017 olivopontocerebellar atrophy MONDO MONDO:0000437 disease_shares_features_of MONDO:0002017 olivopontocerebellar atrophy MONDO MONDO:0005559 subclass MONDO:0002017 olivopontocerebellar atrophy NCIT NCIT:C84947 one_to_one MONDO:0002017 olivopontocerebellar atrophy SCTID SCTID:67761004 one_to_one @@ -9953,6 +9986,7 @@ MONDO:0002045 communicating hydrocephalus SCTID SCTID:271569006 one_to_one MONDO:0002045 communicating hydrocephalus UMLS UMLS:C0009451 one_to_one MONDO:0002046 alcohol abuse COHD COHD:433753 one_to_one MONDO:0002046 alcohol abuse DOID DOID:1574 one_to_one +MONDO:0002046 alcohol abuse ECTO ECTO:0001082 realized_in_response_to MONDO:0002046 alcohol abuse ICD10 ICD10:F10.1 one_to_one MONDO:0002046 alcohol abuse ICD9 ICD9:305.0,ICD9:305.00 inexact MONDO:0002046 alcohol abuse MESH MESH:D000437 one_to_one @@ -9989,6 +10023,7 @@ MONDO:0002050 depressive disorder SCTID SCTID:35489007 one_to_one MONDO:0002050 depressive disorder UMLS UMLS:CN236658 one_to_one MONDO:0002051 integumentary system disease DOID DOID:16 one_to_one MONDO:0002051 integumentary system disease MONDO MONDO:0000001,MONDO:0021199,MONDO:0024505 subclass +MONDO:0002051 integumentary system disease SCTID SCTID:128598002 one_to_one MONDO:0002051 integumentary system disease UBERON UBERON:0002416 disease_has_location MONDO:0002052 lymphadenitis (disease) CL CL:0000542 disease_arises_from_structure MONDO:0002052 lymphadenitis (disease) DOID DOID:1602 one_to_one @@ -10002,7 +10037,7 @@ MONDO:0002052 lymphadenitis (disease) SCTID SCTID:41174002 one_to_one MONDO:0002052 lymphadenitis (disease) UBERON UBERON:0000029 disease_has_inflammation_site MONDO:0002052 lymphadenitis (disease) UMLS UMLS:C0024205,UMLS:C0154304,UMLS:C0157705 inexact MONDO:0002055 benign eccrine breast spiradenoma DOID DOID:1616 one_to_one -MONDO:0002055 benign eccrine breast spiradenoma MONDO MONDO:0000620,MONDO:0003448,MONDO:0021489 subclass +MONDO:0002055 benign eccrine breast spiradenoma MONDO MONDO:0000620,MONDO:0003448 subclass MONDO:0002055 benign eccrine breast spiradenoma NCIT NCIT:C5193 one_to_one MONDO:0002055 benign eccrine breast spiradenoma UMLS UMLS:C1332492 one_to_one MONDO:0002056 breast fibroadenoma DOID DOID:1618 one_to_one @@ -10027,9 +10062,6 @@ MONDO:0002058 breast adenoma NCIT NCIT:C41457 has_finding MONDO:0002058 breast adenoma NCIT NCIT:C40382 one_to_one MONDO:0002058 breast adenoma UBERON UBERON:0000310 disease_has_location MONDO:0002058 breast adenoma UMLS UMLS:C1328385 one_to_one -MONDO:0002059 breast duct papilloma DOID DOID:1626 one_to_one -MONDO:0002059 breast duct papilloma MONDO MONDO:0002061 subclass -MONDO:0002059 breast duct papilloma SCTID SCTID:254848002 one_to_one MONDO:0002060 intraductal papilloma DOID DOID:1627 one_to_one MONDO:0002060 intraductal papilloma ICDO ICDO:8503/0 inexact MONDO:0002060 intraductal papilloma MESH MESH:D018300 one_to_one @@ -10043,7 +10075,7 @@ MONDO:0002061 intraductal papillary breast neoplasm MONDO MONDO:0002488 subclass MONDO:0002061 intraductal papillary breast neoplasm NCIT NCIT:C36090 one_to_one MONDO:0002061 intraductal papillary breast neoplasm UMLS UMLS:C1334252 one_to_one MONDO:0002062 breast myofibroblastoma DOID DOID:1629 one_to_one -MONDO:0002062 breast myofibroblastoma MONDO MONDO:0000620,MONDO:0000636,MONDO:0040675 subclass +MONDO:0002062 breast myofibroblastoma MONDO MONDO:0000620,MONDO:0040675 subclass MONDO:0002062 breast myofibroblastoma NCIT NCIT:C40397 one_to_one MONDO:0002062 breast myofibroblastoma UMLS UMLS:C1511320 one_to_one MONDO:0002063 breast papillomatosis DOID DOID:1634 one_to_one @@ -10172,7 +10204,9 @@ MONDO:0002082 endocrine gland neoplasm UBERON UBERON:0002368 disease_has_locatio MONDO:0002083 Richter syndrome DOID DOID:1703 one_to_one MONDO:0002083 Richter syndrome GARD GARD:0007578 one_to_one MONDO:0002083 Richter syndrome ICD10 ICD10:C91.1 inexact -MONDO:0002083 Richter syndrome MONDO MONDO:0004948,MONDO:0021058 subclass +MONDO:0002083 Richter syndrome MONDO MONDO:0004948 disease_arises_from_feature +MONDO:0002083 Richter syndrome MONDO MONDO:0004948 excluded_subClassOf +MONDO:0002083 Richter syndrome MONDO MONDO:0021058,MONDO:0024882 subclass MONDO:0002083 Richter syndrome NCIT NCIT:C35424 one_to_one MONDO:0002083 Richter syndrome SCTID SCTID:277550009 one_to_one MONDO:0002083 Richter syndrome UMLS UMLS:C0349631 one_to_one @@ -10332,7 +10366,8 @@ MONDO:0002110 adrenal rest tumor DOID DOID:1786 one_to_one MONDO:0002110 adrenal rest tumor EFO EFO:1000798 one_to_one MONDO:0002110 adrenal rest tumor ICDO ICDO:8671/0 one_to_one MONDO:0002110 adrenal rest tumor MESH MESH:D000314 one_to_one -MONDO:0002110 adrenal rest tumor MONDO MONDO:0000383,MONDO:0000627 subclass +MONDO:0002110 adrenal rest tumor MONDO MONDO:0000627 excluded_subClassOf +MONDO:0002110 adrenal rest tumor MONDO MONDO:0000383 subclass MONDO:0002110 adrenal rest tumor NCIT NCIT:C2860 one_to_one MONDO:0002110 adrenal rest tumor UMLS UMLS:C0001630 one_to_one MONDO:0002112 benign peritoneal mesothelioma DOID DOID:1789 one_to_one @@ -10468,13 +10503,11 @@ MONDO:0002133 chronic rheumatic pericarditis MONDO MONDO:0024655 subclass MONDO:0002133 chronic rheumatic pericarditis PATO PATO:0001863 has_modifier MONDO:0002133 chronic rheumatic pericarditis SCTID SCTID:78069008 one_to_one MONDO:0002133 chronic rheumatic pericarditis UMLS UMLS:C0155561 one_to_one -MONDO:0002134 physiological sexual dysfunction DOID DOID:1876 one_to_one -MONDO:0002134 physiological sexual dysfunction ICD10 ICD10:F52.9,ICD10:R37 inexact -MONDO:0002134 physiological sexual dysfunction MESH MESH:D012735 one_to_one -MONDO:0002134 physiological sexual dysfunction MONDO MONDO:0000595 subclass -MONDO:0002134 physiological sexual dysfunction NCIT NCIT:C3347 one_to_one -MONDO:0002134 physiological sexual dysfunction UBERON UBERON:0000990 disease_has_basis_in_dysfunction_of -MONDO:0002134 physiological sexual dysfunction UMLS UMLS:C0549622 one_to_one +MONDO:0002134 physiological sexual disorder DOID DOID:1876 one_to_one +MONDO:0002134 physiological sexual disorder ICD10 ICD10:F52.9,ICD10:R37 inexact +MONDO:0002134 physiological sexual disorder MESH MESH:D012735 one_to_one +MONDO:0002134 physiological sexual disorder MONDO MONDO:0000595 subclass +MONDO:0002134 physiological sexual disorder UMLS UMLS:C0549622 one_to_one MONDO:0002135 optic nerve disease COHD COHD:374360 one_to_one MONDO:0002135 optic nerve disease DOID DOID:1891 one_to_one MONDO:0002135 optic nerve disease ICD9 ICD9:377.49,ICD9:377.9 inexact @@ -10541,14 +10574,6 @@ MONDO:0002143 vaginal yolk sac tumor NCIT NCIT:C6379 one_to_one MONDO:0002143 vaginal yolk sac tumor ONCOTREE ONCOTREE:VYST one_to_one MONDO:0002143 vaginal yolk sac tumor UBERON UBERON:0000996 disease_has_location MONDO:0002143 vaginal yolk sac tumor UMLS UMLS:C1336945 one_to_one -MONDO:0002144 hyperuricemia (disease) DOID DOID:1920 one_to_one -MONDO:0002144 hyperuricemia (disease) EFO EFO:0009104 one_to_one -MONDO:0002144 hyperuricemia (disease) HP HP:0002149 one_to_one -MONDO:0002144 hyperuricemia (disease) ICD9 ICD9:790.6 inexact -MONDO:0002144 hyperuricemia (disease) MESH MESH:D033461 one_to_one -MONDO:0002144 hyperuricemia (disease) MONDO MONDO:0006504 subclass -MONDO:0002144 hyperuricemia (disease) SCTID SCTID:35885006 one_to_one -MONDO:0002144 hyperuricemia (disease) UMLS UMLS:C0740394 one_to_one MONDO:0002145 sex differentiation disease DOID DOID:1923 one_to_one MONDO:0002145 sex differentiation disease GO GO:0007548 disease_has_basis_in_disruption_of MONDO:0002145 sex differentiation disease GTR GTR:AN1172969 one_to_one @@ -10634,7 +10659,8 @@ MONDO:0002159 fallopian tube leiomyosarcoma NCIT NCIT:C40128 one_to_one MONDO:0002159 fallopian tube leiomyosarcoma UBERON UBERON:0003889 disease_has_location MONDO:0002159 fallopian tube leiomyosarcoma UMLS UMLS:C1517116 one_to_one MONDO:0002162 fallopian tube adenosarcoma DOID DOID:1973 one_to_one -MONDO:0002162 fallopian tube adenosarcoma MONDO MONDO:0005636,MONDO:0006207 subclass +MONDO:0002162 fallopian tube adenosarcoma MONDO MONDO:0006207 excluded_subClassOf +MONDO:0002162 fallopian tube adenosarcoma MONDO MONDO:0002158,MONDO:0005636 subclass MONDO:0002162 fallopian tube adenosarcoma NCIT NCIT:C40125 one_to_one MONDO:0002162 fallopian tube adenosarcoma UBERON UBERON:0003889 disease_has_location MONDO:0002162 fallopian tube adenosarcoma UMLS UMLS:C1517121 one_to_one @@ -10706,9 +10732,11 @@ MONDO:0002173 neuroma DOID DOID:2001 one_to_one MONDO:0002173 neuroma ICD9 ICD9:215.9 inexact MONDO:0002173 neuroma ICDO ICDO:9570/0 one_to_one MONDO:0002173 neuroma MESH MESH:D009463 one_to_one -MONDO:0002173 neuroma MONDO MONDO:0000648 subclass +MONDO:0002173 neuroma MONDO MONDO:0000648,MONDO:0002547 excluded_subClassOf +MONDO:0002173 neuroma MONDO MONDO:0003620 subclass MONDO:0002173 neuroma NCIT NCIT:C3275 one_to_one MONDO:0002173 neuroma SCTID SCTID:443892003 one_to_one +MONDO:0002173 neuroma UBERON UBERON:0001021 disease_has_location MONDO:0002173 neuroma UMLS UMLS:C0027858 one_to_one MONDO:0002174 preretinal fibrosis DOID DOID:2006 one_to_one MONDO:0002174 preretinal fibrosis ICD9 ICD9:362.56,ICD9:362.89 inexact @@ -10762,7 +10790,7 @@ MONDO:0002183 enthesopathy COHD COHD:73008 one_to_one MONDO:0002183 enthesopathy DOID DOID:204 one_to_one MONDO:0002183 enthesopathy ICD10 ICD10:M77.9 inexact MONDO:0002183 enthesopathy ICD9 ICD9:726.9,ICD9:726.90 inexact -MONDO:0002183 enthesopathy MONDO MONDO:0000001,MONDO:0003900 subclass +MONDO:0002183 enthesopathy MONDO MONDO:0000001,MONDO:0002081,MONDO:0003900 subclass MONDO:0002183 enthesopathy SCTID SCTID:23680005 one_to_one MONDO:0002183 enthesopathy UBERON UBERON:0035845 disease_has_location MONDO:0002183 enthesopathy UMLS UMLS:C0242490 one_to_one @@ -10964,12 +10992,12 @@ MONDO:0002219 paraurethral gland neoplasm MONDO MONDO:0005070,MONDO:0021049 subc MONDO:0002219 paraurethral gland neoplasm SCTID SCTID:126884005 one_to_one MONDO:0002219 paraurethral gland neoplasm UBERON UBERON:0010145 disease_has_location MONDO:0002219 paraurethral gland neoplasm UMLS UMLS:C0341766 one_to_one -MONDO:0002220 teeth hard tissue disease DOID DOID:214 one_to_one -MONDO:0002220 teeth hard tissue disease ICD10 ICD10:K03,ICD10:K03.8,ICD10:K03.89 inexact -MONDO:0002220 teeth hard tissue disease ICD9 ICD9:521.8,ICD9:521.89 inexact -MONDO:0002220 teeth hard tissue disease MONDO MONDO:0006999 subclass -MONDO:0002220 teeth hard tissue disease SCTID SCTID:46557008 one_to_one -MONDO:0002220 teeth hard tissue disease UMLS UMLS:C0155926 one_to_one +MONDO:0002220 tooth hard tissue disease DOID DOID:214 one_to_one +MONDO:0002220 tooth hard tissue disease ICD10 ICD10:K03,ICD10:K03.8,ICD10:K03.89 inexact +MONDO:0002220 tooth hard tissue disease ICD9 ICD9:521.8,ICD9:521.89 inexact +MONDO:0002220 tooth hard tissue disease MONDO MONDO:0006999 subclass +MONDO:0002220 tooth hard tissue disease SCTID SCTID:46557008 one_to_one +MONDO:0002220 tooth hard tissue disease UMLS UMLS:C0155926 one_to_one MONDO:0002221 urethral urothelial papilloma DOID DOID:2140 one_to_one MONDO:0002221 urethral urothelial papilloma MONDO MONDO:0004041,MONDO:0004177 subclass MONDO:0002221 urethral urothelial papilloma NCIT NCIT:C5061 one_to_one @@ -11026,7 +11054,7 @@ MONDO:0002230 ovarian Wilms tumor UBERON UBERON:0000992 disease_has_location MONDO:0002230 ovarian Wilms tumor UMLS UMLS:C1518746 one_to_one MONDO:0002232 nasal cavity disease COHD COHD:439407 one_to_one MONDO:0002232 nasal cavity disease DOID DOID:2163 one_to_one -MONDO:0002232 nasal cavity disease MONDO MONDO:0000001,MONDO:0002436 subclass +MONDO:0002232 nasal cavity disease MONDO MONDO:0000001,MONDO:0002436,MONDO:0004867 subclass MONDO:0002232 nasal cavity disease NCIT NCIT:C27102 one_to_one MONDO:0002232 nasal cavity disease SCTID SCTID:232340005 one_to_one MONDO:0002232 nasal cavity disease UBERON UBERON:0001707 disease_has_location @@ -11536,7 +11564,9 @@ MONDO:0002311 retinal vascular disease UMLS UMLS:C0154833 one_to_one MONDO:0002312 opportunistic mycosis COHD COHD:432248 one_to_one MONDO:0002312 opportunistic mycosis DOID DOID:2473 one_to_one MONDO:0002312 opportunistic mycosis ICD9 ICD9:117.9,ICD9:118 inexact -MONDO:0002312 opportunistic mycosis MONDO MONDO:0000256 subclass +MONDO:0002312 opportunistic mycosis MONDO MONDO:0000256 excluded_subClassOf +MONDO:0002312 opportunistic mycosis MONDO MONDO:0045035 has_modifier +MONDO:0002312 opportunistic mycosis MONDO MONDO:0002041 subclass MONDO:0002312 opportunistic mycosis SCTID SCTID:78999002 one_to_one MONDO:0002312 opportunistic mycosis UMLS UMLS:C0029119 one_to_one MONDO:0002313 vernal conjunctivitis COHD COHD:377559 one_to_one @@ -11585,10 +11615,13 @@ MONDO:0002319 phosphorus metabolism disease MONDO MONDO:0000226 subclass MONDO:0002319 phosphorus metabolism disease NCIT NCIT:C97095 one_to_one MONDO:0002319 phosphorus metabolism disease SCTID SCTID:87049008 one_to_one MONDO:0002319 phosphorus metabolism disease UMLS UMLS:C0031707 one_to_one -MONDO:0002320 congenital nervous system abnormality DOID DOID:2490 one_to_one -MONDO:0002320 congenital nervous system abnormality ICD9 ICD9:742 one_to_one -MONDO:0002320 congenital nervous system abnormality MONDO MONDO:0000839,MONDO:0005071 subclass -MONDO:0002320 congenital nervous system abnormality NCIT NCIT:C97172 one_to_one +MONDO:0002320 congenital nervous system disorder DOID DOID:2490 one_to_one +MONDO:0002320 congenital nervous system disorder ICD9 ICD9:742 one_to_one +MONDO:0002320 congenital nervous system disorder MONDO MONDO:0000839 excluded_subClassOf +MONDO:0002320 congenital nervous system disorder MONDO MONDO:0021140 has_modifier +MONDO:0002320 congenital nervous system disorder MONDO MONDO:0000001,MONDO:0005071 subclass +MONDO:0002320 congenital nervous system disorder NCIT NCIT:C97172 one_to_one +MONDO:0002320 congenital nervous system disorder UBERON UBERON:0001016 disease_has_location MONDO:0002321 sensory peripheral neuropathy DOID DOID:2491 one_to_one MONDO:0002321 sensory peripheral neuropathy ICD9 ICD9:356.2,ICD9:356.9 inexact MONDO:0002321 sensory peripheral neuropathy MONDO MONDO:0005244 subclass @@ -11608,16 +11641,19 @@ MONDO:0002323 cherry hemangioma MONDO MONDO:0002407,MONDO:0003110 subclass MONDO:0002323 cherry hemangioma NCIT NCIT:C4390 one_to_one MONDO:0002323 cherry hemangioma SCTID SCTID:5050001 one_to_one MONDO:0002323 cherry hemangioma UMLS UMLS:C0343082 one_to_one -MONDO:0002325 tooth erosion DOID DOID:2498 one_to_one -MONDO:0002325 tooth erosion ICD10 ICD10:K03.2 one_to_one -MONDO:0002325 tooth erosion ICD9 ICD9:521.3,ICD9:521.30,ICD9:521.34,ICD9:521.35 inexact -MONDO:0002325 tooth erosion MESH MESH:D014077 one_to_one -MONDO:0002325 tooth erosion MONDO MONDO:0002220 subclass -MONDO:0002325 tooth erosion SCTID SCTID:82212003 one_to_one -MONDO:0002325 tooth erosion UMLS UMLS:C0040436 one_to_one +MONDO:0002325 tooth erosion, non-bacterial DOID DOID:2498 one_to_one +MONDO:0002325 tooth erosion, non-bacterial ICD10 ICD10:K03.2 one_to_one +MONDO:0002325 tooth erosion, non-bacterial ICD9 ICD9:521.3,ICD9:521.30,ICD9:521.34,ICD9:521.35 inexact +MONDO:0002325 tooth erosion, non-bacterial MESH MESH:D014077 one_to_one +MONDO:0002325 tooth erosion, non-bacterial MONDO MONDO:0002220 excluded_subClassOf +MONDO:0002325 tooth erosion, non-bacterial MONDO MONDO:0006999 subclass +MONDO:0002325 tooth erosion, non-bacterial SCTID SCTID:82212003 one_to_one +MONDO:0002325 tooth erosion, non-bacterial UMLS UMLS:C0040436 one_to_one MONDO:0002326 alcohol-induced mental disorder DOID DOID:251 one_to_one +MONDO:0002326 alcohol-induced mental disorder ECTO ECTO:0001082 realized_in_response_to MONDO:0002326 alcohol-induced mental disorder ICD9 ICD9:291.8,ICD9:291.89 inexact -MONDO:0002326 alcohol-induced mental disorder MONDO MONDO:0004630 subclass +MONDO:0002326 alcohol-induced mental disorder MONDO MONDO:0004630 excluded_subClassOf +MONDO:0002326 alcohol-induced mental disorder MONDO MONDO:0005084 subclass MONDO:0002327 intracranial cavernous angioma DOID DOID:2516 one_to_one MONDO:0002327 intracranial cavernous angioma MONDO MONDO:0002328,MONDO:0003155,MONDO:0003641 subclass MONDO:0002327 intracranial cavernous angioma NCIT NCIT:C5432 one_to_one @@ -11641,10 +11677,11 @@ MONDO:0002329 testicular disease SCTID SCTID:64910008 one_to_one MONDO:0002329 testicular disease UBERON UBERON:0000473 disease_has_location MONDO:0002329 testicular disease UMLS UMLS:C0039584 one_to_one MONDO:0002330 alcoholic psychosis DOID DOID:252 one_to_one +MONDO:0002330 alcoholic psychosis ECTO ECTO:0001082 realized_in_response_to MONDO:0002330 alcoholic psychosis EFO EFO:1001260 one_to_one MONDO:0002330 alcoholic psychosis ICD9 ICD9:291.8,ICD9:291.89,ICD9:291.9 inexact MONDO:0002330 alcoholic psychosis MESH MESH:D011604 one_to_one -MONDO:0002330 alcoholic psychosis MONDO MONDO:0002326 subclass +MONDO:0002330 alcoholic psychosis MONDO MONDO:0002326,MONDO:0005485,MONDO:0021698 subclass MONDO:0002330 alcoholic psychosis SCTID SCTID:42344001 one_to_one MONDO:0002331 nephrosis DOID DOID:2527 one_to_one MONDO:0002331 nephrosis MESH MESH:D009401 one_to_one @@ -11679,7 +11716,8 @@ MONDO:0002334 hematopoietic and lymphoid system neoplasm UMLS UMLS:C0376544,UMLS MONDO:0002335 chronic inflammatory demyelinating polyneuritis DOID DOID:2536 one_to_one MONDO:0002335 chronic inflammatory demyelinating polyneuritis ICD10 ICD10:G61.81 inexact MONDO:0002335 chronic inflammatory demyelinating polyneuritis ICD9 ICD9:357.81 inexact -MONDO:0002335 chronic inflammatory demyelinating polyneuritis MONDO MONDO:0002336,MONDO:0003334,MONDO:0003335,MONDO:0021166 subclass +MONDO:0002335 chronic inflammatory demyelinating polyneuritis MONDO MONDO:0002336 excluded_subClassOf +MONDO:0002335 chronic inflammatory demyelinating polyneuritis MONDO MONDO:0003334,MONDO:0003335,MONDO:0021166 subclass MONDO:0002335 chronic inflammatory demyelinating polyneuritis NCIT NCIT:C84636 one_to_one MONDO:0002335 chronic inflammatory demyelinating polyneuritis PATO PATO:0001863 has_modifier MONDO:0002335 chronic inflammatory demyelinating polyneuritis SCTID SCTID:444728005 one_to_one @@ -11844,7 +11882,8 @@ MONDO:0002363 papilloma NCIT NCIT:C7440 one_to_one MONDO:0002363 papilloma SCTID SCTID:711329002 one_to_one MONDO:0002363 papilloma UMLS UMLS:C0030354 one_to_one MONDO:0002364 Wolffian duct adenoma DOID DOID:2616 one_to_one -MONDO:0002364 Wolffian duct adenoma MONDO MONDO:0000383,MONDO:0004972,MONDO:0024889 subclass +MONDO:0002364 Wolffian duct adenoma MONDO MONDO:0000383 excluded_subClassOf +MONDO:0002364 Wolffian duct adenoma MONDO MONDO:0004972,MONDO:0024888 subclass MONDO:0002364 Wolffian duct adenoma UBERON UBERON:0003074 disease_has_location MONDO:0002364 Wolffian duct adenoma UMLS UMLS:C0334530 one_to_one MONDO:0002365 kidney hemangiopericytoma DOID DOID:262 one_to_one @@ -12112,21 +12151,27 @@ MONDO:0002411 narcissistic personality disorder MONDO MONDO:0002028 subclass MONDO:0002411 narcissistic personality disorder NCIT NCIT:C92635 one_to_one MONDO:0002411 narcissistic personality disorder SCTID SCTID:80711002 one_to_one MONDO:0002412 glycogen storage disease COHD COHD:434003 one_to_one -MONDO:0002412 glycogen storage disease DOID DOID:2747 one_to_one +MONDO:0002412 glycogen storage disease DOID DOID:0050728,DOID:2747 inexact +MONDO:0002412 glycogen storage disease GO GO:0005977 disease_has_basis_in_disruption_of MONDO:0002412 glycogen storage disease ICD10 ICD10:E74.0,ICD10:E74.00 inexact MONDO:0002412 glycogen storage disease ICD9 ICD9:271.0 one_to_one MONDO:0002412 glycogen storage disease MESH MESH:D006008 one_to_one -MONDO:0002412 glycogen storage disease MONDO MONDO:0000422 subclass +MONDO:0002412 glycogen storage disease MONDO MONDO:0000422 excluded_subClassOf +MONDO:0002412 glycogen storage disease MONDO MONDO:0019052,MONDO:0019214,MONDO:0019243 subclass MONDO:0002412 glycogen storage disease MedDRA MedDRA:10061990 one_to_one MONDO:0002412 glycogen storage disease NCIT NCIT:C61272 one_to_one MONDO:0002412 glycogen storage disease Orphanet Orphanet:79201 one_to_one MONDO:0002412 glycogen storage disease SCTID SCTID:29633007 one_to_one MONDO:0002412 glycogen storage disease UMLS UMLS:C0017919 one_to_one MONDO:0002413 glycogen storage disease I DOID DOID:2749 one_to_one +MONDO:0002413 glycogen storage disease I GO GO:0004346 disease_disrupts MONDO:0002413 glycogen storage disease I HP HP:0002240 disease_has_feature -MONDO:0002413 glycogen storage disease I ICD10 ICD10:E74.01 one_to_one -MONDO:0002413 glycogen storage disease I MONDO MONDO:0002412 subclass +MONDO:0002413 glycogen storage disease I ICD10 ICD10:E74.0,ICD10:E74.01 inexact +MONDO:0002413 glycogen storage disease I MESH MESH:D005953 one_to_one +MONDO:0002413 glycogen storage disease I MONDO MONDO:0002412,MONDO:0015115,MONDO:0019743,MONDO:0044976 subclass +MONDO:0002413 glycogen storage disease I MedDRA MedDRA:10018464 one_to_one MONDO:0002413 glycogen storage disease I NCIT NCIT:C84733 one_to_one +MONDO:0002413 glycogen storage disease I Orphanet Orphanet:364 one_to_one MONDO:0002413 glycogen storage disease I SCTID SCTID:7265005 one_to_one MONDO:0002414 gastric hemangioma DOID DOID:275 one_to_one MONDO:0002414 gastric hemangioma MONDO MONDO:0002337,MONDO:0006500,MONDO:0021449 subclass @@ -12256,7 +12301,8 @@ MONDO:0002436 nose disease COHD COHD:4229909 one_to_one MONDO:0002436 nose disease DOID DOID:2825 one_to_one MONDO:0002436 nose disease ICD9 ICD9:478.19 inexact MONDO:0002436 nose disease MESH MESH:D009668 one_to_one -MONDO:0002436 nose disease MONDO MONDO:0000001,MONDO:0004867,MONDO:0005128,MONDO:0044987 subclass +MONDO:0002436 nose disease MONDO MONDO:0004867 excluded_subClassOf +MONDO:0002436 nose disease MONDO MONDO:0000001,MONDO:0005128,MONDO:0044987 subclass MONDO:0002436 nose disease SCTID SCTID:89488007 one_to_one MONDO:0002436 nose disease UBERON UBERON:0000004 disease_has_location MONDO:0002436 nose disease UMLS UMLS:C0028432 one_to_one @@ -12370,6 +12416,7 @@ MONDO:0002459 type IV hypersensitivity disease MONDO MONDO:0000001,MONDO:0007179 MONDO:0002459 type IV hypersensitivity disease NCIT NCIT:C3115 one_to_one MONDO:0002459 type IV hypersensitivity disease UMLS UMLS:C0020522 one_to_one MONDO:0002460 lacrimal system cancer DOID DOID:292 one_to_one +MONDO:0002460 lacrimal system cancer MONDO MONDO:0002236 excluded_subClassOf MONDO:0002460 lacrimal system cancer MONDO MONDO:0001854,MONDO:0002236,MONDO:0004992 subclass MONDO:0002460 lacrimal system cancer NCIT NCIT:C5102 one_to_one MONDO:0002460 lacrimal system cancer SCTID SCTID:416510003 one_to_one @@ -12768,7 +12815,8 @@ MONDO:0002532 squamous cell neoplasm MONDO MONDO:0005626 subclass MONDO:0002532 squamous cell neoplasm NCIT NCIT:C3792 one_to_one MONDO:0002532 squamous cell neoplasm UMLS UMLS:C0206720 one_to_one MONDO:0002533 papillary adenoma DOID DOID:3172 one_to_one -MONDO:0002533 papillary adenoma MONDO MONDO:0002363,MONDO:0004972,MONDO:0021096 subclass +MONDO:0002533 papillary adenoma MONDO MONDO:0002363 excluded_subClassOf +MONDO:0002533 papillary adenoma MONDO MONDO:0004972,MONDO:0021096 subclass MONDO:0002533 papillary adenoma NCIT NCIT:C35911 has_finding MONDO:0002533 papillary adenoma NCIT NCIT:C79951 one_to_one MONDO:0002533 papillary adenoma UMLS UMLS:C0205650 one_to_one @@ -12843,7 +12891,7 @@ MONDO:0002546 schwannoma GARD GARD:0004767 one_to_one MONDO:0002546 schwannoma ICD9 ICD9:215.9 inexact MONDO:0002546 schwannoma ICDO ICDO:9560/0 one_to_one MONDO:0002546 schwannoma MONDO MONDO:0024491 has_modifier -MONDO:0002546 schwannoma MONDO MONDO:0000638,MONDO:0002173,MONDO:0002547,MONDO:0016679,MONDO:0016752,MONDO:0021637 subclass +MONDO:0002546 schwannoma MONDO MONDO:0002547,MONDO:0005070,MONDO:0016679,MONDO:0016752,MONDO:0021637 subclass MONDO:0002546 schwannoma MedDRA MedDRA:10029234,MedDRA:10029235 inexact MONDO:0002546 schwannoma NCIT NCIT:C35909,NCIT:C36108,NCIT:C41431 has_finding MONDO:0002546 schwannoma NCIT NCIT:C3269 one_to_one @@ -12872,7 +12920,7 @@ MONDO:0002549 schwannoma of twelfth cranial nerve UBERON UBERON:0001650 disease_ MONDO:0002549 schwannoma of twelfth cranial nerve UMLS UMLS:C1335928 one_to_one MONDO:0002550 hypoglossal nerve neoplasm DOID DOID:3198 one_to_one MONDO:0002550 hypoglossal nerve neoplasm ICD9 ICD9:239.7 inexact -MONDO:0002550 hypoglossal nerve neoplasm MONDO MONDO:0001810,MONDO:0002638,MONDO:0005070 subclass +MONDO:0002550 hypoglossal nerve neoplasm MONDO MONDO:0001810,MONDO:0002633,MONDO:0005070 subclass MONDO:0002550 hypoglossal nerve neoplasm NCIT NCIT:C5830 one_to_one MONDO:0002550 hypoglossal nerve neoplasm SCTID SCTID:126978008 one_to_one MONDO:0002550 hypoglossal nerve neoplasm UBERON UBERON:0001650 disease_has_location @@ -13052,15 +13100,15 @@ MONDO:0002583 mucinous ovarian cystadenoma NCIT NCIT:C4512 one_to_one MONDO:0002583 mucinous ovarian cystadenoma SCTID SCTID:119422004 one_to_one MONDO:0002583 mucinous ovarian cystadenoma UBERON UBERON:0000992 disease_has_location MONDO:0002583 mucinous ovarian cystadenoma UMLS UMLS:C0346172 one_to_one -MONDO:0002585 proliferative type fibrocystic change of breast DOID DOID:3274 one_to_one -MONDO:0002585 proliferative type fibrocystic change of breast MONDO MONDO:0005219 subclass -MONDO:0002585 proliferative type fibrocystic change of breast NCIT NCIT:C5204 one_to_one -MONDO:0002585 proliferative type fibrocystic change of breast UMLS UMLS:C0334056,UMLS:C1335500 inexact +MONDO:0002585 breast fibrocystic change, proliferative type DOID DOID:3274 one_to_one +MONDO:0002585 breast fibrocystic change, proliferative type MONDO MONDO:0005219 subclass +MONDO:0002585 breast fibrocystic change, proliferative type NCIT NCIT:C6940 one_to_one +MONDO:0002585 breast fibrocystic change, proliferative type UMLS UMLS:C0334056 one_to_one MONDO:0002586 thymus cancer COHD COHD:443380 one_to_one MONDO:0002586 thymus cancer DOID DOID:3277 one_to_one MONDO:0002586 thymus cancer ICD10 ICD10:C37 inexact MONDO:0002586 thymus cancer ICD9 ICD9:164.0 one_to_one -MONDO:0002586 thymus cancer MONDO MONDO:0000612,MONDO:0003274,MONDO:0004992,MONDO:0005197,MONDO:0021069 subclass +MONDO:0002586 thymus cancer MONDO MONDO:0000621,MONDO:0003274,MONDO:0004992,MONDO:0005197,MONDO:0021069 subclass MONDO:0002586 thymus cancer NCIT NCIT:C4962 one_to_one MONDO:0002586 thymus cancer SCTID SCTID:363434003 one_to_one MONDO:0002586 thymus cancer UBERON UBERON:0002370 disease_has_location @@ -13154,8 +13202,9 @@ MONDO:0002604 pericytic neoplasm NCIT NCIT:C41839 has_finding MONDO:0002604 pericytic neoplasm NCIT NCIT:C6528 one_to_one MONDO:0002604 pericytic neoplasm UMLS UMLS:C1335392 one_to_one MONDO:0002605 hepatic angiomyolipoma DOID DOID:3317 one_to_one -MONDO:0002605 hepatic angiomyolipoma MONDO MONDO:0004721 subclass +MONDO:0002605 hepatic angiomyolipoma MONDO MONDO:0002603,MONDO:0004721 subclass MONDO:0002605 hepatic angiomyolipoma NCIT NCIT:C27485 one_to_one +MONDO:0002605 hepatic angiomyolipoma UBERON UBERON:0002107 disease_has_location MONDO:0002605 hepatic angiomyolipoma UMLS UMLS:C1333962 one_to_one MONDO:0002606 epithelioid type angiomyolipoma DOID DOID:3318 one_to_one MONDO:0002606 epithelioid type angiomyolipoma MONDO MONDO:0002603 subclass @@ -13239,11 +13288,12 @@ MONDO:0002622 multifocal osteogenic sarcoma NCIT NCIT:C6470 one_to_one MONDO:0002622 multifocal osteogenic sarcoma UMLS UMLS:C1334820 one_to_one MONDO:0002623 pediatric osteosarcoma DOID DOID:3361 one_to_one MONDO:0002623 pediatric osteosarcoma HP HP:0011463 has_modifier -MONDO:0002623 pediatric osteosarcoma MONDO MONDO:0009807,MONDO:0036491 subclass +MONDO:0002623 pediatric osteosarcoma MONDO MONDO:0006517,MONDO:0009807 subclass MONDO:0002623 pediatric osteosarcoma NCIT NCIT:C6585 one_to_one MONDO:0002623 pediatric osteosarcoma UMLS UMLS:C1332986 one_to_one MONDO:0002624 bone leiomyosarcoma DOID DOID:3367 one_to_one -MONDO:0002624 bone leiomyosarcoma MONDO MONDO:0005058,MONDO:0009807,MONDO:0021054 subclass +MONDO:0002624 bone leiomyosarcoma MONDO MONDO:0009807 excluded_subClassOf +MONDO:0002624 bone leiomyosarcoma MONDO MONDO:0005058,MONDO:0021054 subclass MONDO:0002624 bone leiomyosarcoma NCIT NCIT:C3047,NCIT:C3303 has_finding MONDO:0002624 bone leiomyosarcoma NCIT NCIT:C7154 one_to_one MONDO:0002624 bone leiomyosarcoma UBERON UBERON:0002481 disease_has_location @@ -13257,7 +13307,7 @@ MONDO:0002625 Ewing sarcoma of bone UBERON UBERON:0002481 disease_has_location MONDO:0002625 Ewing sarcoma of bone UMLS UMLS:C0585474 one_to_one MONDO:0002626 spinal accessory nerve neoplasm DOID DOID:337 one_to_one MONDO:0002626 spinal accessory nerve neoplasm ICD9 ICD9:239.7 inexact -MONDO:0002626 spinal accessory nerve neoplasm MONDO MONDO:0002636,MONDO:0002638,MONDO:0005070 subclass +MONDO:0002626 spinal accessory nerve neoplasm MONDO MONDO:0002633,MONDO:0002636,MONDO:0005070 subclass MONDO:0002626 spinal accessory nerve neoplasm NCIT NCIT:C5829 one_to_one MONDO:0002626 spinal accessory nerve neoplasm SCTID SCTID:126977003 one_to_one MONDO:0002626 spinal accessory nerve neoplasm UBERON UBERON:0009674 disease_has_location @@ -13287,7 +13337,8 @@ MONDO:0002629 bone osteosarcoma SCTID SCTID:307576001 one_to_one MONDO:0002629 bone osteosarcoma http http://identifiers.org/hgnc/11998,http://identifiers.org/hgnc/16627,http://identifiers.org/hgnc/9884 disease_has_basis_in_dysfunction_of MONDO:0002630 small cell osteogenic sarcoma DOID DOID:3377 one_to_one MONDO:0002630 small cell osteogenic sarcoma ICDO ICDO:9185/3 one_to_one -MONDO:0002630 small cell osteogenic sarcoma MONDO MONDO:0002631,MONDO:0006974 subclass +MONDO:0002630 small cell osteogenic sarcoma MONDO MONDO:0002631 excluded_subClassOf +MONDO:0002630 small cell osteogenic sarcoma MONDO MONDO:0002129,MONDO:0006974 subclass MONDO:0002630 small cell osteogenic sarcoma NCIT NCIT:C4023 one_to_one MONDO:0002630 small cell osteogenic sarcoma ONCOTREE ONCOTREE:SCOS one_to_one MONDO:0002630 small cell osteogenic sarcoma UMLS UMLS:C0279622 one_to_one @@ -13310,9 +13361,11 @@ MONDO:0002633 cranial nerve neoplasm SCTID SCTID:126966009 one_to_one MONDO:0002633 cranial nerve neoplasm UBERON UBERON:0001785 disease_has_location MONDO:0002633 cranial nerve neoplasm UMLS UMLS:C0010267 one_to_one MONDO:0002634 liposarcoma of bone DOID DOID:3381 one_to_one -MONDO:0002634 liposarcoma of bone MONDO MONDO:0005060,MONDO:0009807,MONDO:0021054 subclass +MONDO:0002634 liposarcoma of bone MONDO MONDO:0009807 excluded_subClassOf +MONDO:0002634 liposarcoma of bone MONDO MONDO:0005060,MONDO:0021054 subclass MONDO:0002634 liposarcoma of bone NCIT NCIT:C3303 has_finding MONDO:0002634 liposarcoma of bone NCIT NCIT:C7598 one_to_one +MONDO:0002634 liposarcoma of bone UBERON UBERON:0002481 disease_has_location MONDO:0002634 liposarcoma of bone UMLS UMLS:C1332581 one_to_one MONDO:0002635 periodontal disease COHD COHD:134398 one_to_one MONDO:0002635 periodontal disease DOID DOID:3388 one_to_one @@ -13328,7 +13381,8 @@ MONDO:0002636 accessory nerve disease COHD COHD:437547 one_to_one MONDO:0002636 accessory nerve disease DOID DOID:339 one_to_one MONDO:0002636 accessory nerve disease ICD9 ICD9:352.4 one_to_one MONDO:0002636 accessory nerve disease MESH MESH:D020436 one_to_one -MONDO:0002636 accessory nerve disease MONDO MONDO:0000001,MONDO:0002639 subclass +MONDO:0002636 accessory nerve disease MONDO MONDO:0002639 excluded_subClassOf +MONDO:0002636 accessory nerve disease MONDO MONDO:0000001,MONDO:0003569,MONDO:0003620 subclass MONDO:0002636 accessory nerve disease NCIT NCIT:C26953 one_to_one MONDO:0002636 accessory nerve disease SCTID SCTID:84759007 one_to_one MONDO:0002636 accessory nerve disease UBERON UBERON:0002019 disease_has_location @@ -13700,7 +13754,8 @@ MONDO:0002703 appendix mucinous cystadenocarcinoma NCIT NCIT:C5511 one_to_one MONDO:0002703 appendix mucinous cystadenocarcinoma UBERON UBERON:0001154 disease_has_location MONDO:0002703 appendix mucinous cystadenocarcinoma UMLS UMLS:C1096639 one_to_one MONDO:0002705 breast mucinous cystadenocarcinoma DOID DOID:3609 one_to_one -MONDO:0002705 breast mucinous cystadenocarcinoma MONDO MONDO:0002707,MONDO:0005858 subclass +MONDO:0002705 breast mucinous cystadenocarcinoma MONDO MONDO:0002707 excluded_subClassOf +MONDO:0002705 breast mucinous cystadenocarcinoma MONDO MONDO:0004988,MONDO:0005858 subclass MONDO:0002705 breast mucinous cystadenocarcinoma NCIT NCIT:C41454 has_finding MONDO:0002705 breast mucinous cystadenocarcinoma NCIT NCIT:C40354 one_to_one MONDO:0002705 breast mucinous cystadenocarcinoma UBERON UBERON:0000310 disease_has_location @@ -13731,15 +13786,17 @@ MONDO:0002710 infiltrating angiolipoma MONDO MONDO:0006085 subclass MONDO:0002710 infiltrating angiolipoma NCIT NCIT:C7449 one_to_one MONDO:0002710 infiltrating angiolipoma UMLS UMLS:C1305256 one_to_one MONDO:0002712 epidural spinal canal angiolipoma DOID DOID:3617 one_to_one -MONDO:0002712 epidural spinal canal angiolipoma MONDO MONDO:0001790,MONDO:0002713,MONDO:0006085 subclass +MONDO:0002712 epidural spinal canal angiolipoma MONDO MONDO:0001790 excluded_subClassOf +MONDO:0002712 epidural spinal canal angiolipoma MONDO MONDO:0002713,MONDO:0006085 subclass MONDO:0002712 epidural spinal canal angiolipoma NCIT NCIT:C5424 one_to_one +MONDO:0002712 epidural spinal canal angiolipoma UBERON UBERON:0003691 disease_has_location MONDO:0002712 epidural spinal canal angiolipoma UMLS UMLS:C1333416 one_to_one MONDO:0002713 epidural spinal canal neoplasm DOID DOID:3618 one_to_one MONDO:0002713 epidural spinal canal neoplasm EFO EFO:1000923 one_to_one MONDO:0002713 epidural spinal canal neoplasm MESH MESH:D015174 one_to_one MONDO:0002713 epidural spinal canal neoplasm MONDO MONDO:0000812,MONDO:0005070 subclass MONDO:0002713 epidural spinal canal neoplasm NCIT NCIT:C3019 one_to_one -MONDO:0002713 epidural spinal canal neoplasm UBERON UBERON:0006692 disease_has_location +MONDO:0002713 epidural spinal canal neoplasm UBERON UBERON:0003691 disease_has_location MONDO:0002713 epidural spinal canal neoplasm UMLS UMLS:C0014536 one_to_one MONDO:0002714 central nervous system cancer DOID DOID:3620 one_to_one MONDO:0002714 central nervous system cancer EFO EFO:0000326 one_to_one @@ -13792,9 +13849,10 @@ MONDO:0002721 necrosis of pituitary MONDO MONDO:0003381 subclass MONDO:0002721 necrosis of pituitary NCIT NCIT:C27066 one_to_one MONDO:0002721 necrosis of pituitary SCTID SCTID:59572000 one_to_one MONDO:0002721 necrosis of pituitary UMLS UMLS:C0271558 one_to_one -MONDO:0002722 olfactory nerve neoplasm DOID DOID:366 one_to_one +MONDO:0002722 olfactory nerve neoplasm DOID DOID:366,DOID:8256 inexact MONDO:0002722 olfactory nerve neoplasm ICD9 ICD9:239.7 inexact -MONDO:0002722 olfactory nerve neoplasm MONDO MONDO:0002638,MONDO:0002727,MONDO:0005070,MONDO:0021211 subclass +MONDO:0002722 olfactory nerve neoplasm MONDO MONDO:0002722 excluded_subClassOf +MONDO:0002722 olfactory nerve neoplasm MONDO MONDO:0002633,MONDO:0002727,MONDO:0005070,MONDO:0021211 subclass MONDO:0002722 olfactory nerve neoplasm NCIT NCIT:C5121 one_to_one MONDO:0002722 olfactory nerve neoplasm SCTID SCTID:126967000 one_to_one MONDO:0002722 olfactory nerve neoplasm UBERON UBERON:0001579 disease_has_location @@ -13820,7 +13878,8 @@ MONDO:0002727 olfactory nerve disease DOID DOID:367 one_to_one MONDO:0002727 olfactory nerve disease ICD10 ICD10:G52.0 one_to_one MONDO:0002727 olfactory nerve disease ICD9 ICD9:352.0 one_to_one MONDO:0002727 olfactory nerve disease MESH MESH:D020431 one_to_one -MONDO:0002727 olfactory nerve disease MONDO MONDO:0000001,MONDO:0002639,MONDO:0005560 subclass +MONDO:0002727 olfactory nerve disease MONDO MONDO:0002639 excluded_subClassOf +MONDO:0002727 olfactory nerve disease MONDO MONDO:0000001,MONDO:0003569,MONDO:0003620,MONDO:0005560 subclass MONDO:0002727 olfactory nerve disease NCIT NCIT:C27210 one_to_one MONDO:0002727 olfactory nerve disease SCTID SCTID:68982002 one_to_one MONDO:0002727 olfactory nerve disease UBERON UBERON:0001579 disease_has_location @@ -13860,10 +13919,6 @@ MONDO:0002732 lung benign neoplasm DOID DOID:3683 one_to_one MONDO:0002732 lung benign neoplasm MONDO MONDO:0000382,MONDO:0000634,MONDO:0005165,MONDO:0021117 subclass MONDO:0002732 lung benign neoplasm NCIT NCIT:C4454 one_to_one MONDO:0002732 lung benign neoplasm UBERON UBERON:0002048 disease_has_location -MONDO:0002733 plexopathy DOID DOID:3688 one_to_one -MONDO:0002733 plexopathy MONDO MONDO:0005559 subclass -MONDO:0002733 plexopathy NCIT NCIT:C27744 one_to_one -MONDO:0002733 plexopathy UMLS UMLS:C1335437 one_to_one MONDO:0002734 anal mucinous adenocarcinoma DOID DOID:3691 one_to_one MONDO:0002734 anal mucinous adenocarcinoma MONDO MONDO:0002652,MONDO:0002748,MONDO:0004957 subclass MONDO:0002734 anal mucinous adenocarcinoma NCIT NCIT:C5606 one_to_one @@ -14072,16 +14127,11 @@ MONDO:0002771 pulmonary fibrosis NCIT NCIT:C26869 one_to_one MONDO:0002771 pulmonary fibrosis SCTID SCTID:51615001 one_to_one MONDO:0002771 pulmonary fibrosis UMLS UMLS:C0034069 one_to_one MONDO:0002772 intraventricular meningioma DOID DOID:3772 one_to_one -MONDO:0002772 intraventricular meningioma MONDO MONDO:0002682,MONDO:0003772 subclass +MONDO:0002772 intraventricular meningioma MONDO MONDO:0003772 excluded_subClassOf +MONDO:0002772 intraventricular meningioma MONDO MONDO:0000642,MONDO:0002682,MONDO:0016642,MONDO:0021322 subclass MONDO:0002772 intraventricular meningioma NCIT NCIT:C5273 one_to_one +MONDO:0002772 intraventricular meningioma UBERON UBERON:0004086 disease_has_location MONDO:0002772 intraventricular meningioma UMLS UMLS:C1334271 one_to_one -MONDO:0002773 third ventricle chordoid glioma DOID DOID:3773 one_to_one -MONDO:0002773 third ventricle chordoid glioma GARD GARD:0010636 one_to_one -MONDO:0002773 third ventricle chordoid glioma ICDO ICDO:9444/1 one_to_one -MONDO:0002773 third ventricle chordoid glioma MONDO MONDO:0002682,MONDO:0002786,MONDO:0005499,MONDO:0016706 subclass -MONDO:0002773 third ventricle chordoid glioma NCIT NCIT:C5592 one_to_one -MONDO:0002773 third ventricle chordoid glioma ONCOTREE ONCOTREE:CHGL one_to_one -MONDO:0002773 third ventricle chordoid glioma UBERON UBERON:0002286 disease_has_location MONDO:0002775 anovulation DOID DOID:3781 one_to_one MONDO:0002775 anovulation MESH MESH:D000858 one_to_one MONDO:0002775 anovulation MONDO MONDO:0005558 subclass @@ -14275,7 +14325,8 @@ MONDO:0002811 main bronchus cancer COHD COHD:4157333 one_to_one MONDO:0002811 main bronchus cancer DOID DOID:3924 one_to_one MONDO:0002811 main bronchus cancer ICD10 ICD10:C34.0 one_to_one MONDO:0002811 main bronchus cancer ICD9 ICD9:162.2 one_to_one -MONDO:0002811 main bronchus cancer MONDO MONDO:0001672,MONDO:0004992,MONDO:0008903 subclass +MONDO:0002811 main bronchus cancer MONDO MONDO:0008903 excluded_subClassOf +MONDO:0002811 main bronchus cancer MONDO MONDO:0001672,MONDO:0004992 subclass MONDO:0002811 main bronchus cancer SCTID SCTID:372065009 one_to_one MONDO:0002811 main bronchus cancer UBERON UBERON:0002182 disease_has_location MONDO:0002811 main bronchus cancer UMLS UMLS:C0153490 one_to_one @@ -14381,12 +14432,14 @@ MONDO:0002837 sarcomatoid transitional cell carcinoma MONDO MONDO:0006406,MONDO: MONDO:0002837 sarcomatoid transitional cell carcinoma NCIT NCIT:C35907,NCIT:C36104,NCIT:C36190,NCIT:C42585 has_finding MONDO:0002837 sarcomatoid transitional cell carcinoma NCIT NCIT:C4120 one_to_one MONDO:0002837 sarcomatoid transitional cell carcinoma UMLS UMLS:C0334271 one_to_one -MONDO:0002839 linitis plastica DOID DOID:4023 one_to_one -MONDO:0002839 linitis plastica ICDO ICDO:8142/3 one_to_one -MONDO:0002839 linitis plastica MESH MESH:D008039 one_to_one -MONDO:0002839 linitis plastica MONDO MONDO:0005017 subclass -MONDO:0002839 linitis plastica NCIT NCIT:C3190 one_to_one -MONDO:0002839 linitis plastica UMLS UMLS:C0023743 one_to_one +MONDO:0002839 leather-bottle stomach DOID DOID:4023 one_to_one +MONDO:0002839 leather-bottle stomach ICDO ICDO:8142/3 one_to_one +MONDO:0002839 leather-bottle stomach MESH MESH:D008039 one_to_one +MONDO:0002839 leather-bottle stomach MONDO MONDO:0005017 excluded_subClassOf +MONDO:0002839 leather-bottle stomach MONDO MONDO:0004298,MONDO:0045054 subclass +MONDO:0002839 leather-bottle stomach NCIT NCIT:C3190 one_to_one +MONDO:0002839 leather-bottle stomach UBERON UBERON:0001167 disease_has_location +MONDO:0002839 leather-bottle stomach UMLS UMLS:C0023743 one_to_one MONDO:0002840 eosinophilic gastritis COHD COHD:195309 one_to_one MONDO:0002840 eosinophilic gastritis DOID DOID:4030 one_to_one MONDO:0002840 eosinophilic gastritis ICD9 ICD9:535.40,ICD9:535.7,ICD9:535.70 inexact @@ -14628,7 +14681,7 @@ MONDO:0002884 nail disease DOID DOID:4123 one_to_one MONDO:0002884 nail disease ICD10 ICD10:L60,ICD10:L60.9 inexact MONDO:0002884 nail disease ICD9 ICD9:703,ICD9:703.8,ICD9:703.9 inexact MONDO:0002884 nail disease MESH MESH:D009260 one_to_one -MONDO:0002884 nail disease MONDO MONDO:0000001,MONDO:0002051,MONDO:0044967,MONDO:0045027 subclass +MONDO:0002884 nail disease MONDO MONDO:0000001,MONDO:0002051,MONDO:0044967 subclass MONDO:0002884 nail disease SCTID SCTID:17790008 one_to_one MONDO:0002884 nail disease UBERON UBERON:0001705 disease_has_location MONDO:0002884 nail disease UMLS UMLS:C0027339 one_to_one @@ -14721,9 +14774,11 @@ MONDO:0002901 blood group incompatibility MONDO MONDO:0005570 subclass MONDO:0002901 blood group incompatibility UMLS UMLS:C0005806 one_to_one MONDO:0002903 articulation disorder COHD COHD:4039744 one_to_one MONDO:0002903 articulation disorder DOID DOID:4186 one_to_one +MONDO:0002903 articulation disorder ICD9 ICD9:315.39 inexact MONDO:0002903 articulation disorder MESH MESH:D001184 one_to_one MONDO:0002903 articulation disorder MONDO MONDO:0004730,MONDO:0004750 subclass MONDO:0002903 articulation disorder NCIT NCIT:C92564 one_to_one +MONDO:0002903 articulation disorder SCTID SCTID:386701004 one_to_one MONDO:0002904 echolalia (disease) DOID DOID:4188 one_to_one MONDO:0002904 echolalia (disease) HP HP:0010529 one_to_one MONDO:0002904 echolalia (disease) MESH MESH:D004454 one_to_one @@ -14807,7 +14862,7 @@ MONDO:0002917 disease of pilosebaceous unit COHD COHD:135033 one_to_one MONDO:0002917 disease of pilosebaceous unit DOID DOID:421 one_to_one MONDO:0002917 disease of pilosebaceous unit ICD9 ICD9:704.8,ICD9:704.9 inexact MONDO:0002917 disease of pilosebaceous unit MESH MESH:D006201 one_to_one -MONDO:0002917 disease of pilosebaceous unit MONDO MONDO:0000001,MONDO:0002051,MONDO:0045027 subclass +MONDO:0002917 disease of pilosebaceous unit MONDO MONDO:0000001,MONDO:0002051 subclass MONDO:0002917 disease of pilosebaceous unit NCIT NCIT:C34656 one_to_one MONDO:0002917 disease of pilosebaceous unit SCTID SCTID:201128002 one_to_one MONDO:0002917 disease of pilosebaceous unit UBERON UBERON:0011932 disease_has_location @@ -14914,7 +14969,7 @@ MONDO:0002933 osteosclerosis NCIT NCIT:C41236 one_to_one MONDO:0002933 osteosclerosis SCTID SCTID:49347007 one_to_one MONDO:0002933 osteosclerosis UMLS UMLS:C0029464 one_to_one MONDO:0002934 intravascular angioleiomyoma DOID DOID:4266 one_to_one -MONDO:0002934 intravascular angioleiomyoma MONDO MONDO:0006646,MONDO:0024296 subclass +MONDO:0002934 intravascular angioleiomyoma MONDO MONDO:0000629,MONDO:0006646,MONDO:0024296 subclass MONDO:0002934 intravascular angioleiomyoma NCIT NCIT:C5355 one_to_one MONDO:0002934 intravascular angioleiomyoma UMLS UMLS:C1334267 one_to_one MONDO:0002935 penis basal cell carcinoma DOID DOID:4277 one_to_one @@ -15209,7 +15264,8 @@ MONDO:0002989 benign fibrous histiocytoma NCIT NCIT:C35888 has_finding MONDO:0002989 benign fibrous histiocytoma NCIT NCIT:C3739 one_to_one MONDO:0002989 benign fibrous histiocytoma UMLS UMLS:C0206644 one_to_one MONDO:0002990 benign deep fibrous histiocytoma DOID DOID:4419 one_to_one -MONDO:0002990 benign deep fibrous histiocytoma MONDO MONDO:0000630,MONDO:0002989 subclass +MONDO:0002990 benign deep fibrous histiocytoma MONDO MONDO:0000630 excluded_subClassOf +MONDO:0002990 benign deep fibrous histiocytoma MONDO MONDO:0002989 subclass MONDO:0002990 benign deep fibrous histiocytoma NCIT NCIT:C35888,NCIT:C41457,NCIT:C51137 has_finding MONDO:0002990 benign deep fibrous histiocytoma NCIT NCIT:C6492 one_to_one MONDO:0002990 benign deep fibrous histiocytoma UMLS UMLS:C1266125 one_to_one @@ -15420,8 +15476,9 @@ MONDO:0003029 skin angiosarcoma SCTID SCTID:254794007 one_to_one MONDO:0003029 skin angiosarcoma UBERON UBERON:0000014 disease_has_location MONDO:0003029 skin angiosarcoma UMLS UMLS:C0346081 one_to_one MONDO:0003030 endometrioid stromal sarcoma of the cervix DOID DOID:4520 one_to_one -MONDO:0003030 endometrioid stromal sarcoma of the cervix MONDO MONDO:0003031 subclass +MONDO:0003030 endometrioid stromal sarcoma of the cervix MONDO MONDO:0003031,MONDO:0006745,MONDO:0016280 subclass MONDO:0003030 endometrioid stromal sarcoma of the cervix NCIT NCIT:C40220 one_to_one +MONDO:0003030 endometrioid stromal sarcoma of the cervix UBERON UBERON:0000002 disease_has_location MONDO:0003030 endometrioid stromal sarcoma of the cervix UMLS UMLS:C3642326 one_to_one MONDO:0003031 endometrioid stromal and related neoplasms of the cervix DOID DOID:4521 one_to_one MONDO:0003031 endometrioid stromal and related neoplasms of the cervix MONDO MONDO:0002974 excluded_subClassOf @@ -15537,7 +15594,7 @@ MONDO:0003052 granulomatous endometritis MONDO MONDO:0024279 subclass MONDO:0003052 granulomatous endometritis NCIT NCIT:C27626 one_to_one MONDO:0003052 granulomatous endometritis UMLS UMLS:C1333876 one_to_one MONDO:0003053 choroid plexus meningioma DOID DOID:4584 one_to_one -MONDO:0003053 choroid plexus meningioma MONDO MONDO:0000642,MONDO:0016228,MONDO:0016642,MONDO:0043218 subclass +MONDO:0003053 choroid plexus meningioma MONDO MONDO:0002681,MONDO:0002772,MONDO:0016228,MONDO:0016642 subclass MONDO:0003053 choroid plexus meningioma NCIT NCIT:C4719 one_to_one MONDO:0003053 choroid plexus meningioma UBERON UBERON:0001886 disease_has_location MONDO:0003053 choroid plexus meningioma UMLS UMLS:C0431118 one_to_one @@ -15710,7 +15767,8 @@ MONDO:0003086 thymic mucoepidermoid carcinoma NCIT NCIT:C6457 one_to_one MONDO:0003086 thymic mucoepidermoid carcinoma UBERON UBERON:0002370 disease_has_location MONDO:0003086 thymic mucoepidermoid carcinoma UMLS UMLS:C1334814 one_to_one MONDO:0003087 mucoepidermoid breast carcinoma DOID DOID:4679 one_to_one -MONDO:0003087 mucoepidermoid breast carcinoma MONDO MONDO:0003036,MONDO:0004988,MONDO:0006043 subclass +MONDO:0003087 mucoepidermoid breast carcinoma MONDO MONDO:0006043 excluded_subClassOf +MONDO:0003087 mucoepidermoid breast carcinoma MONDO MONDO:0003036,MONDO:0004988,MONDO:0006256 subclass MONDO:0003087 mucoepidermoid breast carcinoma NCIT NCIT:C5166 one_to_one MONDO:0003087 mucoepidermoid breast carcinoma UBERON UBERON:0000310 disease_has_location MONDO:0003087 mucoepidermoid breast carcinoma UMLS UMLS:C1334813 one_to_one @@ -15968,7 +16026,8 @@ MONDO:0003143 angiokeratoma NCIT NCIT:C4488 one_to_one MONDO:0003143 angiokeratoma SCTID SCTID:254788004 one_to_one MONDO:0003143 angiokeratoma UMLS UMLS:C0002985,UMLS:C0346075 inexact MONDO:0003144 medulloepithelioma DOID DOID:4790 one_to_one -MONDO:0003144 medulloepithelioma MONDO MONDO:0000640,MONDO:0016713 subclass +MONDO:0003144 medulloepithelioma MONDO MONDO:0000640 excluded_subClassOf +MONDO:0003144 medulloepithelioma MONDO MONDO:0016713 subclass MONDO:0003144 medulloepithelioma NCIT NCIT:C26791,NCIT:C3258,NCIT:C3442,NCIT:C34661,NCIT:C35911,NCIT:C35913,NCIT:C35925,NCIT:C35960,NCIT:C36104,NCIT:C36184,NCIT:C41457,NCIT:C54037 has_finding MONDO:0003144 medulloepithelioma NCIT NCIT:C4327 one_to_one MONDO:0003144 medulloepithelioma ONCOTREE ONCOTREE:MDEP one_to_one @@ -16226,7 +16285,8 @@ MONDO:0003200 urethra adenocarcinoma ONCOTREE ONCOTREE:UAD one_to_one MONDO:0003200 urethra adenocarcinoma UBERON UBERON:0000057 disease_has_location MONDO:0003200 urethra adenocarcinoma UMLS UMLS:C1336885 one_to_one MONDO:0003202 pituitary gland basophilic carcinoma DOID DOID:4915 one_to_one -MONDO:0003202 pituitary gland basophilic carcinoma MONDO MONDO:0000621,MONDO:0003641,MONDO:0004805,MONDO:0017582,MONDO:0020008 subclass +MONDO:0003202 pituitary gland basophilic carcinoma MONDO MONDO:0004805 excluded_subClassOf +MONDO:0003202 pituitary gland basophilic carcinoma MONDO MONDO:0017582 subclass MONDO:0003202 pituitary gland basophilic carcinoma NCIT NCIT:C27392 one_to_one MONDO:0003202 pituitary gland basophilic carcinoma UMLS UMLS:C1704778 one_to_one MONDO:0003204 villous adenocarcinoma DOID DOID:4917 one_to_one @@ -16359,6 +16419,7 @@ MONDO:0003231 acute nonparalytic poliomyelitis MONDO MONDO:0017373 subclass MONDO:0003231 acute nonparalytic poliomyelitis SCTID SCTID:14535005 one_to_one MONDO:0003231 acute nonparalytic poliomyelitis UMLS UMLS:C0152998 one_to_one MONDO:0003232 alcoholic pancreatitis DOID DOID:4988 one_to_one +MONDO:0003232 alcoholic pancreatitis ECTO ECTO:0001082 realized_in_response_to MONDO:0003232 alcoholic pancreatitis EFO EFO:1002013 one_to_one MONDO:0003232 alcoholic pancreatitis MESH MESH:D019512 one_to_one MONDO:0003232 alcoholic pancreatitis MONDO MONDO:0004982,MONDO:0021699 subclass @@ -16482,7 +16543,8 @@ MONDO:0003254 cardiac granular cell neoplasm NCIT NCIT:C5360 one_to_one MONDO:0003254 cardiac granular cell neoplasm UBERON UBERON:0000948 disease_has_location MONDO:0003254 cardiac granular cell neoplasm UMLS UMLS:C1332845 one_to_one MONDO:0003255 mediastinal granular cell myoblastoma DOID DOID:5046 one_to_one -MONDO:0003255 mediastinal granular cell myoblastoma MONDO MONDO:0003098,MONDO:0006235 subclass +MONDO:0003255 mediastinal granular cell myoblastoma MONDO MONDO:0003098 excluded_subClassOf +MONDO:0003255 mediastinal granular cell myoblastoma MONDO MONDO:0006235,MONDO:0021386 subclass MONDO:0003255 mediastinal granular cell myoblastoma NCIT NCIT:C6601 one_to_one MONDO:0003255 mediastinal granular cell myoblastoma UBERON UBERON:0003728 disease_has_location MONDO:0003255 mediastinal granular cell myoblastoma UMLS UMLS:C1334656 one_to_one @@ -16610,7 +16672,8 @@ MONDO:0003280 swayback MESH MESH:D013540 one_to_one MONDO:0003280 swayback MONDO MONDO:0006873 subclass MONDO:0003280 swayback SCTID SCTID:61960001 one_to_one MONDO:0003281 ovarian cystic teratoma DOID DOID:5118 one_to_one -MONDO:0003281 ovarian cystic teratoma MONDO MONDO:0002379,MONDO:0003820 subclass +MONDO:0003281 ovarian cystic teratoma MONDO MONDO:0003820 excluded_subClassOf +MONDO:0003281 ovarian cystic teratoma MONDO MONDO:0002379,MONDO:0011366,MONDO:0020005,MONDO:0020037 subclass MONDO:0003281 ovarian cystic teratoma NCIT NCIT:C7283 one_to_one MONDO:0003281 ovarian cystic teratoma UBERON UBERON:0000992 disease_has_location MONDO:0003281 ovarian cystic teratoma UMLS UMLS:C1335155 one_to_one @@ -16719,9 +16782,11 @@ MONDO:0003300 appendix leiomyoma UBERON UBERON:0001154 disease_has_location MONDO:0003300 appendix leiomyoma UMLS UMLS:C1332327 one_to_one MONDO:0003301 dartoic leiomyoma DOID DOID:5147 one_to_one MONDO:0003301 dartoic leiomyoma ICD9 ICD9:215.9 inexact -MONDO:0003301 dartoic leiomyoma MONDO MONDO:0000383,MONDO:0003291 subclass +MONDO:0003301 dartoic leiomyoma MONDO MONDO:0000383 excluded_subClassOf +MONDO:0003301 dartoic leiomyoma MONDO MONDO:0001572,MONDO:0003291,MONDO:0021581 subclass MONDO:0003301 dartoic leiomyoma NCIT NCIT:C4483 one_to_one MONDO:0003301 dartoic leiomyoma SCTID SCTID:254770007 one_to_one +MONDO:0003301 dartoic leiomyoma UBERON UBERON:0013718 disease_has_location MONDO:0003301 dartoic leiomyoma UMLS UMLS:C0346066 one_to_one MONDO:0003302 epithelioid neurofibroma DOID DOID:5149 one_to_one MONDO:0003302 epithelioid neurofibroma ICD9 ICD9:215.9 inexact @@ -16788,8 +16853,9 @@ MONDO:0003312 ovarian endometrioid stromal and related neoplasms NCIT NCIT:C4006 MONDO:0003312 ovarian endometrioid stromal and related neoplasms UBERON UBERON:0000992 disease_has_location MONDO:0003312 ovarian endometrioid stromal and related neoplasms UMLS UMLS:C4288544 one_to_one MONDO:0003313 endometrioid stromal sarcoma of the vagina DOID DOID:5170 one_to_one -MONDO:0003313 endometrioid stromal sarcoma of the vagina MONDO MONDO:0002140 subclass +MONDO:0003313 endometrioid stromal sarcoma of the vagina MONDO MONDO:0002140,MONDO:0003314,MONDO:0006745,MONDO:0016252 subclass MONDO:0003313 endometrioid stromal sarcoma of the vagina NCIT NCIT:C40270 one_to_one +MONDO:0003313 endometrioid stromal sarcoma of the vagina UBERON UBERON:0000996 disease_has_location MONDO:0003313 endometrioid stromal sarcoma of the vagina UMLS UMLS:C3642329 one_to_one MONDO:0003314 endometrioid stromal and related neoplasms of the vagina DOID DOID:5171 one_to_one MONDO:0003314 endometrioid stromal and related neoplasms of the vagina MONDO MONDO:0001402 excluded_subClassOf @@ -16928,7 +16994,8 @@ MONDO:0003341 subungual glomus tumor SCTID SCTID:403973004 one_to_one MONDO:0003341 subungual glomus tumor UBERON UBERON:0004105 disease_has_location MONDO:0003341 subungual glomus tumor UMLS UMLS:C1304510 one_to_one MONDO:0003342 benign perivascular tumor DOID DOID:5238 one_to_one -MONDO:0003342 benign perivascular tumor MONDO MONDO:0000629,MONDO:0002604 subclass +MONDO:0003342 benign perivascular tumor MONDO MONDO:0000629 excluded_subClassOf +MONDO:0003342 benign perivascular tumor MONDO MONDO:0002604,MONDO:0005165 subclass MONDO:0003342 benign perivascular tumor NCIT NCIT:C6529 one_to_one MONDO:0003342 benign perivascular tumor PATO PATO:0002096 has_modifier MONDO:0003342 benign perivascular tumor UMLS UMLS:C1332532 one_to_one @@ -17176,8 +17243,9 @@ MONDO:0003389 epithelial-myoepithelial carcinoma ONCOTREE ONCOTREE:EMYOCA one_to MONDO:0003389 epithelial-myoepithelial carcinoma UMLS UMLS:C0334392 one_to_one MONDO:0003390 glycogen-rich clear cell breast carcinoma DOID DOID:5310 one_to_one MONDO:0003390 glycogen-rich clear cell breast carcinoma ICDO ICDO:8315/3 one_to_one -MONDO:0003390 glycogen-rich clear cell breast carcinoma MONDO MONDO:0004988 subclass -MONDO:0003390 glycogen-rich clear cell breast carcinoma NCIT NCIT:C4153 one_to_one +MONDO:0003390 glycogen-rich clear cell breast carcinoma MONDO MONDO:0004953,MONDO:0005004,MONDO:0045055 subclass +MONDO:0003390 glycogen-rich clear cell breast carcinoma NCIT NCIT:C40368 one_to_one +MONDO:0003390 glycogen-rich clear cell breast carcinoma UBERON UBERON:0000310 disease_has_location MONDO:0003390 glycogen-rich clear cell breast carcinoma UMLS UMLS:C0334319 one_to_one MONDO:0003391 vulvar alveolar soft part sarcoma DOID DOID:5313 one_to_one MONDO:0003391 vulvar alveolar soft part sarcoma MONDO MONDO:0005214,MONDO:0011655 subclass @@ -17192,7 +17260,8 @@ MONDO:0003392 fallopian tube germ cell tumor UMLS UMLS:C1517114 one_to_one MONDO:0003393 thymus gland disease DOID DOID:533 one_to_one MONDO:0003393 thymus gland disease ICD10 ICD10:E32,ICD10:E32.9 inexact MONDO:0003393 thymus gland disease ICD9 ICD9:254,ICD9:254.9 inexact -MONDO:0003393 thymus gland disease MONDO MONDO:0000001,MONDO:0000651,MONDO:0005151,MONDO:0005570,MONDO:0005833 subclass +MONDO:0003393 thymus gland disease MONDO MONDO:0005833 excluded_subClassOf +MONDO:0003393 thymus gland disease MONDO MONDO:0000001,MONDO:0000651,MONDO:0005046,MONDO:0005151,MONDO:0005570 subclass MONDO:0003393 thymus gland disease NCIT NCIT:C26962 one_to_one MONDO:0003393 thymus gland disease SCTID SCTID:20673009 one_to_one MONDO:0003393 thymus gland disease UBERON UBERON:0002370 disease_has_location @@ -17319,14 +17388,14 @@ MONDO:0003417 internuclear ophthalmoplegia COHD COHD:376698 one_to_one MONDO:0003417 internuclear ophthalmoplegia DOID DOID:538 one_to_one MONDO:0003417 internuclear ophthalmoplegia ICD10 ICD10:H51.2 one_to_one MONDO:0003417 internuclear ophthalmoplegia ICD9 ICD9:378.86 one_to_one -MONDO:0003417 internuclear ophthalmoplegia MONDO MONDO:0001835,MONDO:0003425,MONDO:0003432 subclass +MONDO:0003417 internuclear ophthalmoplegia MONDO MONDO:0003425,MONDO:0003432 subclass MONDO:0003417 internuclear ophthalmoplegia SCTID SCTID:49823009 one_to_one MONDO:0003417 internuclear ophthalmoplegia UMLS UMLS:C0152134 one_to_one -MONDO:0003419 Bartholin's gland adenoma DOID DOID:5382 one_to_one -MONDO:0003419 Bartholin's gland adenoma MONDO MONDO:0002193,MONDO:0002198,MONDO:0004972,MONDO:0036976 subclass -MONDO:0003419 Bartholin's gland adenoma NCIT NCIT:C40299 one_to_one -MONDO:0003419 Bartholin's gland adenoma UBERON UBERON:0000460 disease_has_location -MONDO:0003419 Bartholin's gland adenoma UMLS UMLS:C1511048 one_to_one +MONDO:0003419 Bartholin gland adenoma DOID DOID:5382 one_to_one +MONDO:0003419 Bartholin gland adenoma MONDO MONDO:0002193,MONDO:0002198,MONDO:0004972,MONDO:0036976 subclass +MONDO:0003419 Bartholin gland adenoma NCIT NCIT:C40299 one_to_one +MONDO:0003419 Bartholin gland adenoma UBERON UBERON:0000460 disease_has_location +MONDO:0003419 Bartholin gland adenoma UMLS UMLS:C1511048 one_to_one MONDO:0003420 bile duct cystadenoma DOID DOID:5384 one_to_one MONDO:0003420 bile duct cystadenoma ICDO ICDO:8161/0 one_to_one MONDO:0003420 bile duct cystadenoma MONDO MONDO:0002369,MONDO:0006108 subclass @@ -17354,7 +17423,8 @@ MONDO:0003423 middle ear adenoma UMLS UMLS:C1334759 one_to_one MONDO:0003424 oncocytic adenoma DOID DOID:5389 one_to_one MONDO:0003424 oncocytic adenoma EFO EFO:1001079 one_to_one MONDO:0003424 oncocytic adenoma ICDO ICDO:8290/0 one_to_one -MONDO:0003424 oncocytic adenoma MONDO MONDO:0000627,MONDO:0004972,MONDO:0010795,MONDO:0036976 subclass +MONDO:0003424 oncocytic adenoma MONDO MONDO:0000627 excluded_subClassOf +MONDO:0003424 oncocytic adenoma MONDO MONDO:0004972,MONDO:0010795 subclass MONDO:0003424 oncocytic adenoma NCIT NCIT:C3759 one_to_one MONDO:0003424 oncocytic adenoma UMLS UMLS:C1510502 one_to_one MONDO:0003425 ophthalmoplegia DOID DOID:539 one_to_one @@ -17369,7 +17439,7 @@ MONDO:0003426 clear cell adenoma NCIT NCIT:C4151 one_to_one MONDO:0003426 clear cell adenoma UMLS UMLS:C0334315 one_to_one MONDO:0003427 bronchus adenoma DOID DOID:5391 one_to_one MONDO:0003427 bronchus adenoma ICDO ICDO:8260/0 one_to_one -MONDO:0003427 bronchus adenoma MONDO MONDO:0002533,MONDO:0002807,MONDO:0003422,MONDO:0006278 subclass +MONDO:0003427 bronchus adenoma MONDO MONDO:0002533,MONDO:0002807,MONDO:0003422 subclass MONDO:0003427 bronchus adenoma NCIT NCIT:C3494 one_to_one MONDO:0003427 bronchus adenoma UBERON UBERON:0002185 disease_has_location MONDO:0003427 bronchus adenoma UMLS UMLS:C0149845 one_to_one @@ -17378,9 +17448,12 @@ MONDO:0003428 brain hemangioma MONDO MONDO:0002328 subclass MONDO:0003428 brain hemangioma NCIT NCIT:C7739 one_to_one MONDO:0003428 brain hemangioma UMLS UMLS:C0238814 one_to_one MONDO:0003429 functioning pituitary gland adenoma DOID DOID:5395 one_to_one -MONDO:0003429 functioning pituitary gland adenoma MONDO MONDO:0003604,MONDO:0006373 subclass +MONDO:0003429 functioning pituitary gland adenoma GO GO:0046879 realized_in +MONDO:0003429 functioning pituitary gland adenoma MONDO MONDO:0003604,MONDO:0004972,MONDO:0006373 subclass +MONDO:0003429 functioning pituitary gland adenoma NCIT NCIT:C45981 disease_has_feature MONDO:0003429 functioning pituitary gland adenoma NCIT NCIT:C8388 one_to_one MONDO:0003429 functioning pituitary gland adenoma Orphanet Orphanet:314753 one_to_one +MONDO:0003429 functioning pituitary gland adenoma UBERON UBERON:0000007 disease_has_location MONDO:0003429 functioning pituitary gland adenoma UMLS UMLS:C0854486 one_to_one MONDO:0003430 prolactin producing pituitary tumor DOID DOID:5396 one_to_one MONDO:0003430 prolactin producing pituitary tumor MONDO MONDO:0017611 subclass @@ -17396,7 +17469,8 @@ MONDO:0003432 strabismus COHD COHD:4329707 one_to_one MONDO:0003432 strabismus DOID DOID:540 one_to_one MONDO:0003432 strabismus ICD10 ICD10:H50.8,ICD10:H50.89 inexact MONDO:0003432 strabismus ICD9 ICD9:378.40,ICD9:378.7 inexact -MONDO:0003432 strabismus MONDO MONDO:0001584,MONDO:0004891 subclass +MONDO:0003432 strabismus MONDO MONDO:0004891 excluded_subClassOf +MONDO:0003432 strabismus MONDO MONDO:0001584 subclass MONDO:0003432 strabismus NCIT NCIT:C35040 one_to_one MONDO:0003432 strabismus SCTID SCTID:22066006 one_to_one MONDO:0003432 strabismus UMLS UMLS:C0038379 one_to_one @@ -17480,20 +17554,22 @@ MONDO:0003447 clear cell hidradenoma DOID DOID:5443 one_to_one MONDO:0003447 clear cell hidradenoma MONDO MONDO:0002805,MONDO:0003426 subclass MONDO:0003447 clear cell hidradenoma NCIT NCIT:C7567 one_to_one MONDO:0003447 clear cell hidradenoma UMLS UMLS:C1370701 one_to_one -MONDO:0003448 spiradenoma DOID DOID:5444 one_to_one -MONDO:0003448 spiradenoma ICDO ICDO:8403/0 one_to_one -MONDO:0003448 spiradenoma MONDO MONDO:0003686 subclass -MONDO:0003448 spiradenoma NCIT NCIT:C3373,NCIT:C35899,NCIT:C35983 has_finding -MONDO:0003448 spiradenoma NCIT NCIT:C4170 one_to_one -MONDO:0003448 spiradenoma ONCOTREE ONCOTREE:SPIR one_to_one -MONDO:0003448 spiradenoma SCTID SCTID:403938001 one_to_one -MONDO:0003448 spiradenoma UMLS UMLS:C0334347 one_to_one +MONDO:0003448 benign spiradenoma DOID DOID:5444 one_to_one +MONDO:0003448 benign spiradenoma ICDO ICDO:8403/0 one_to_one +MONDO:0003448 benign spiradenoma MONDO MONDO:0003686 excluded_subClassOf +MONDO:0003448 benign spiradenoma MONDO MONDO:0021489 subclass +MONDO:0003448 benign spiradenoma NCIT NCIT:C3373,NCIT:C35899,NCIT:C35983 has_finding +MONDO:0003448 benign spiradenoma NCIT NCIT:C4170 one_to_one +MONDO:0003448 benign spiradenoma ONCOTREE ONCOTREE:SPIR one_to_one +MONDO:0003448 benign spiradenoma SCTID SCTID:403938001 one_to_one +MONDO:0003448 benign spiradenoma UMLS UMLS:C0334347 one_to_one MONDO:0003450 eccrine papillary adenoma DOID DOID:5446 one_to_one MONDO:0003450 eccrine papillary adenoma GARD GARD:0010463 one_to_one MONDO:0003450 eccrine papillary adenoma ICDO ICDO:8408/0 one_to_one -MONDO:0003450 eccrine papillary adenoma MONDO MONDO:0002090 subclass +MONDO:0003450 eccrine papillary adenoma MONDO MONDO:0002090,MONDO:0002533,MONDO:0021110 subclass MONDO:0003450 eccrine papillary adenoma NCIT NCIT:C4173 one_to_one MONDO:0003450 eccrine papillary adenoma SCTID SCTID:253021007 one_to_one +MONDO:0003450 eccrine papillary adenoma UBERON UBERON:0000423 disease_has_location MONDO:0003450 eccrine papillary adenoma UMLS UMLS:C0334350 one_to_one MONDO:0003452 cochlear disease DOID DOID:5463 one_to_one MONDO:0003452 cochlear disease MESH MESH:D015834 one_to_one @@ -17502,7 +17578,8 @@ MONDO:0003452 cochlear disease UBERON UBERON:0001844 disease_has_location MONDO:0003452 cochlear disease UMLS UMLS:C0009197 one_to_one MONDO:0003453 conjunctival intraepithelial neoplasm DOID DOID:5465 one_to_one MONDO:0003453 conjunctival intraepithelial neoplasm ICD9 ICD9:239.89 inexact -MONDO:0003453 conjunctival intraepithelial neoplasm MONDO MONDO:0000611,MONDO:0020204 subclass +MONDO:0003453 conjunctival intraepithelial neoplasm MONDO MONDO:0000611 excluded_subClassOf +MONDO:0003453 conjunctival intraepithelial neoplasm MONDO MONDO:0020204,MONDO:0024475 subclass MONDO:0003453 conjunctival intraepithelial neoplasm NCIT NCIT:C6120 one_to_one MONDO:0003453 conjunctival intraepithelial neoplasm SCTID SCTID:418134006 one_to_one MONDO:0003453 conjunctival intraepithelial neoplasm UBERON UBERON:0001811 disease_arises_from_structure @@ -17620,7 +17697,8 @@ MONDO:0003475 papillary ependymoma NCIT NCIT:C35911 has_finding MONDO:0003475 papillary ependymoma NCIT NCIT:C4319 one_to_one MONDO:0003475 papillary ependymoma UMLS UMLS:C0334578 one_to_one MONDO:0003476 clear cell ependymoma DOID DOID:5507 one_to_one -MONDO:0003476 clear cell ependymoma MONDO MONDO:0003161 subclass +MONDO:0003476 clear cell ependymoma MONDO MONDO:0003161 excluded_subClassOf +MONDO:0003476 clear cell ependymoma MONDO MONDO:0016698 subclass MONDO:0003476 clear cell ependymoma NCIT NCIT:C35944,NCIT:C41626,NCIT:C41629 has_finding MONDO:0003476 clear cell ependymoma NCIT NCIT:C4714 one_to_one MONDO:0003476 clear cell ependymoma ONCOTREE ONCOTREE:CCE one_to_one @@ -17636,7 +17714,8 @@ MONDO:0003478 childhood ependymoma MONDO MONDO:0016698,MONDO:0021079 subclass MONDO:0003478 childhood ependymoma NCIT NCIT:C8578 one_to_one MONDO:0003479 toxic pneumonitis DOID DOID:551 one_to_one MONDO:0003479 toxic pneumonitis ICD9 ICD9:506.9 one_to_one -MONDO:0003479 toxic pneumonitis MONDO MONDO:0005249 subclass +MONDO:0003479 toxic pneumonitis MONDO MONDO:0005249 excluded_subClassOf +MONDO:0003479 toxic pneumonitis MONDO MONDO:0043905 subclass MONDO:0003479 toxic pneumonitis SCTID SCTID:233733000 one_to_one MONDO:0003479 toxic pneumonitis UMLS UMLS:C3714582 one_to_one MONDO:0003480 pineal region dysgerminoma DOID DOID:5510 one_to_one @@ -17815,7 +17894,8 @@ MONDO:0003518 mediastinum teratoma UBERON UBERON:0003728 disease_has_location MONDO:0003518 mediastinum teratoma UMLS UMLS:C1334682 one_to_one MONDO:0003519 malignant syringoma DOID DOID:5569 one_to_one MONDO:0003519 malignant syringoma GARD GARD:0010438 one_to_one -MONDO:0003519 malignant syringoma MONDO MONDO:0002191,MONDO:0005506 subclass +MONDO:0003519 malignant syringoma MONDO MONDO:0005506 excluded_subClassOf +MONDO:0003519 malignant syringoma MONDO MONDO:0002191,MONDO:0002206 subclass MONDO:0003519 malignant syringoma NCIT NCIT:C7581 one_to_one MONDO:0003519 malignant syringoma ONCOTREE ONCOTREE:MAC one_to_one MONDO:0003519 malignant syringoma PATO PATO:0002097 has_modifier @@ -17867,7 +17947,7 @@ MONDO:0003529 acute pyelonephritis PATO PATO:0000389 has_modifier MONDO:0003529 acute pyelonephritis SCTID SCTID:36689008 one_to_one MONDO:0003529 acute pyelonephritis UMLS UMLS:C0520575 one_to_one MONDO:0003530 aggressive digital papillary adenocarcinoma DOID DOID:5590 one_to_one -MONDO:0003530 aggressive digital papillary adenocarcinoma MONDO MONDO:0002656 subclass +MONDO:0003530 aggressive digital papillary adenocarcinoma MONDO MONDO:0044789 subclass MONDO:0003530 aggressive digital papillary adenocarcinoma ONCOTREE ONCOTREE:ADPA one_to_one MONDO:0003531 papillary eccrine carcinoma DOID DOID:5591 one_to_one MONDO:0003531 papillary eccrine carcinoma MONDO MONDO:0002512,MONDO:0024240 subclass @@ -17938,9 +18018,8 @@ MONDO:0003544 spinal cord cancer SCTID SCTID:363475005 one_to_one MONDO:0003544 spinal cord cancer UBERON UBERON:0002240 disease_has_location MONDO:0003544 spinal cord cancer UMLS UMLS:C0153646 one_to_one MONDO:0003545 intradural extramedullary spinal canal neoplasm DOID DOID:5615 one_to_one -MONDO:0003545 intradural extramedullary spinal canal neoplasm MONDO MONDO:0000812,MONDO:0005070 subclass +MONDO:0003545 intradural extramedullary spinal canal neoplasm MONDO MONDO:0002713 subclass MONDO:0003545 intradural extramedullary spinal canal neoplasm NCIT NCIT:C5135 one_to_one -MONDO:0003545 intradural extramedullary spinal canal neoplasm UBERON UBERON:0003691 disease_has_location MONDO:0003545 intradural extramedullary spinal canal neoplasm UMLS UMLS:C1334255 one_to_one MONDO:0003546 third cranial nerve disease DOID DOID:562 one_to_one MONDO:0003546 third cranial nerve disease MESH MESH:D015840 one_to_one @@ -18036,7 +18115,7 @@ MONDO:0003567 bilateral hypoactive labyrinth UMLS UMLS:C0155518 one_to_one MONDO:0003568 disorder of optic chiasm DOID DOID:5655 one_to_one MONDO:0003568 disorder of optic chiasm ICD10 ICD10:H47.4 inexact MONDO:0003568 disorder of optic chiasm ICD9 ICD9:377.5,ICD9:377.63 inexact -MONDO:0003568 disorder of optic chiasm MONDO MONDO:0000001,MONDO:0002135,MONDO:0005560 subclass +MONDO:0003568 disorder of optic chiasm MONDO MONDO:0000001,MONDO:0005560 subclass MONDO:0003568 disorder of optic chiasm SCTID SCTID:70476006 one_to_one MONDO:0003568 disorder of optic chiasm UBERON UBERON:0000959 disease_has_location MONDO:0003568 disorder of optic chiasm UMLS UMLS:C0155307 one_to_one @@ -18193,7 +18272,8 @@ MONDO:0003598 median nerve neuropathy DOID DOID:571 one_to_one MONDO:0003598 median nerve neuropathy ICD10 ICD10:G56.1,ICD10:G56.10 inexact MONDO:0003598 median nerve neuropathy ICD9 ICD9:354.1 one_to_one MONDO:0003598 median nerve neuropathy MESH MESH:D020423 one_to_one -MONDO:0003598 median nerve neuropathy MONDO MONDO:0003607,MONDO:0005244,MONDO:0006682 subclass +MONDO:0003598 median nerve neuropathy MONDO MONDO:0003607 excluded_subClassOf +MONDO:0003598 median nerve neuropathy MONDO MONDO:0005244,MONDO:0006683,MONDO:0044967 subclass MONDO:0003598 median nerve neuropathy SCTID SCTID:397828008 one_to_one MONDO:0003598 median nerve neuropathy UBERON UBERON:0001148 disease_has_location MONDO:0003599 vulvar liposarcoma DOID DOID:5711 one_to_one @@ -18264,7 +18344,7 @@ MONDO:0003610 rete ovarii cystadenoma UBERON UBERON:0010185 disease_has_location MONDO:0003610 rete ovarii cystadenoma UMLS UMLS:C1514907 one_to_one MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease DOID DOID:5726 one_to_one MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease MONDO MONDO:0008667 disease_arises_from_feature -MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease MONDO MONDO:0000644,MONDO:0021091,MONDO:0021629,MONDO:0024882 subclass +MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease MONDO MONDO:0021091,MONDO:0021629,MONDO:0024882 subclass MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease NCIT NCIT:C40142 one_to_one MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease UBERON UBERON:0036262 disease_has_location MONDO:0003611 uterine ligament papillary cystadenoma associated with von Hippel-Lindau disease UMLS UMLS:C3642324 one_to_one @@ -18403,7 +18483,7 @@ MONDO:0003636 vulvar sebaceous carcinoma NCIT NCIT:C40309 one_to_one MONDO:0003636 vulvar sebaceous carcinoma UBERON UBERON:0000997 disease_has_location MONDO:0003636 vulvar sebaceous carcinoma UMLS UMLS:C1520094 one_to_one MONDO:0003637 clear cell-sugar-tumor of the lung DOID DOID:5763 one_to_one -MONDO:0003637 clear cell-sugar-tumor of the lung MONDO MONDO:0002732,MONDO:0003342,MONDO:0006359 subclass +MONDO:0003637 clear cell-sugar-tumor of the lung MONDO MONDO:0002732,MONDO:0006359,MONDO:0044335 subclass MONDO:0003637 clear cell-sugar-tumor of the lung NCIT NCIT:C38152 one_to_one MONDO:0003637 clear cell-sugar-tumor of the lung UMLS UMLS:C1333065 one_to_one MONDO:0003638 lung meningioma DOID DOID:5764 one_to_one @@ -18419,7 +18499,8 @@ MONDO:0003639 lung hilum neoplasm UBERON UBERON:0004886 disease_has_location MONDO:0003639 lung hilum neoplasm UMLS UMLS:C1290358 one_to_one MONDO:0003640 verruciform xanthoma of skin DOID DOID:5769 one_to_one MONDO:0003640 verruciform xanthoma of skin ICD9 ICD9:215.9 inexact -MONDO:0003640 verruciform xanthoma of skin MONDO MONDO:0002615,MONDO:0005236 subclass +MONDO:0003640 verruciform xanthoma of skin MONDO MONDO:0002615 excluded_subClassOf +MONDO:0003640 verruciform xanthoma of skin MONDO MONDO:0005236 subclass MONDO:0003640 verruciform xanthoma of skin NCIT NCIT:C4478 one_to_one MONDO:0003640 verruciform xanthoma of skin SCTID SCTID:254756007 one_to_one MONDO:0003640 verruciform xanthoma of skin UMLS UMLS:C0346054 one_to_one @@ -18490,10 +18571,11 @@ MONDO:0003652 acute urate nephropathy NCIT NCIT:C123037 one_to_one MONDO:0003652 acute urate nephropathy SCTID SCTID:236496000 one_to_one MONDO:0003652 acute urate nephropathy UMLS UMLS:C0341712,UMLS:C0403719 inexact MONDO:0003653 stork bite DOID DOID:5806 one_to_one -MONDO:0003653 stork bite MONDO MONDO:0002407 subclass +MONDO:0003653 stork bite MONDO MONDO:0002407 excluded_subClassOf +MONDO:0003653 stork bite MONDO MONDO:0016231 subclass MONDO:0003653 stork bite SCTID SCTID:254211001 one_to_one MONDO:0003654 childhood parosteal osteosarcoma DOID DOID:5809 one_to_one -MONDO:0003654 childhood parosteal osteosarcoma MONDO MONDO:0002623,MONDO:0006817 subclass +MONDO:0003654 childhood parosteal osteosarcoma MONDO MONDO:0002623,MONDO:0006817,MONDO:0036491 subclass MONDO:0003654 childhood parosteal osteosarcoma NCIT NCIT:C6589 one_to_one MONDO:0003654 childhood parosteal osteosarcoma UMLS UMLS:C1332994 one_to_one MONDO:0003655 cerebral lymphoma DOID DOID:5815 one_to_one @@ -18505,7 +18587,8 @@ MONDO:0003656 hemoglobinuria DOID DOID:582 one_to_one MONDO:0003656 hemoglobinuria ICD10 ICD10:R82.3 one_to_one MONDO:0003656 hemoglobinuria ICD9 ICD9:791.2 one_to_one MONDO:0003656 hemoglobinuria MESH MESH:D006456 one_to_one -MONDO:0003656 hemoglobinuria MONDO MONDO:0003634,MONDO:0003664 subclass +MONDO:0003656 hemoglobinuria MONDO MONDO:0003664 excluded_subClassOf +MONDO:0003656 hemoglobinuria MONDO MONDO:0003634 subclass MONDO:0003656 hemoglobinuria UMLS UMLS:C0019048 one_to_one MONDO:0003657 methotrexate-associated lymphoproliferation DOID DOID:5821 one_to_one MONDO:0003657 methotrexate-associated lymphoproliferation MONDO MONDO:0005062 subclass @@ -18558,8 +18641,6 @@ MONDO:0003666 fallopian tube endometrioid adenocarcinoma MONDO MONDO:0002746,MON MONDO:0003666 fallopian tube endometrioid adenocarcinoma NCIT NCIT:C6279 one_to_one MONDO:0003666 fallopian tube endometrioid adenocarcinoma UBERON UBERON:0003889 disease_has_location MONDO:0003666 fallopian tube endometrioid adenocarcinoma UMLS UMLS:C1333592 one_to_one -MONDO:0003667 spermatocytoma DOID DOID:5834 one_to_one -MONDO:0003667 spermatocytoma MONDO MONDO:0003001 subclass MONDO:0003668 extragonadal seminoma DOID DOID:5838 one_to_one MONDO:0003668 extragonadal seminoma MONDO MONDO:0003001,MONDO:0003113 subclass MONDO:0003668 extragonadal seminoma NCIT NCIT:C7327 one_to_one @@ -18649,7 +18730,7 @@ MONDO:0003687 endocardium cancer UBERON UBERON:0002165 disease_has_location MONDO:0003687 endocardium cancer UMLS UMLS:C0346612 one_to_one MONDO:0003688 well differentiated papillary mesothelioma DOID DOID:5884 one_to_one MONDO:0003688 well differentiated papillary mesothelioma ICDO ICDO:9052/1 one_to_one -MONDO:0003688 well differentiated papillary mesothelioma MONDO MONDO:0002373 subclass +MONDO:0003688 well differentiated papillary mesothelioma MONDO MONDO:0005065 subclass MONDO:0003688 well differentiated papillary mesothelioma NCIT NCIT:C35911,NCIT:C36105,NCIT:C36133,NCIT:C41039,NCIT:C60922 has_finding MONDO:0003688 well differentiated papillary mesothelioma NCIT NCIT:C7635 one_to_one MONDO:0003688 well differentiated papillary mesothelioma UMLS UMLS:C1337012 one_to_one @@ -18714,7 +18795,7 @@ MONDO:0003699 phobic disorder MONDO MONDO:0005618 subclass MONDO:0003699 phobic disorder NCIT NCIT:C35420 one_to_one MONDO:0003699 phobic disorder SCTID SCTID:386810004 one_to_one MONDO:0003700 brachial plexus neoplasm DOID DOID:5913 one_to_one -MONDO:0003700 brachial plexus neoplasm MONDO MONDO:0003100,MONDO:0005070,MONDO:0006130,MONDO:0006683 subclass +MONDO:0003700 brachial plexus neoplasm MONDO MONDO:0003100,MONDO:0005070,MONDO:0006683 subclass MONDO:0003700 brachial plexus neoplasm NCIT NCIT:C5823 one_to_one MONDO:0003700 brachial plexus neoplasm UBERON UBERON:0001814 disease_has_location MONDO:0003700 brachial plexus neoplasm UMLS UMLS:C1332602 one_to_one @@ -18724,8 +18805,10 @@ MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma MONDO MONDO:0 MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma NCIT NCIT:C7427 one_to_one MONDO:0003701 thyroid gland diffuse sclerosing papillary carcinoma UMLS UMLS:C0334330,UMLS:C1321862 inexact MONDO:0003702 uterus intravascular leiomyomatosis DOID DOID:5915 one_to_one -MONDO:0003702 uterus intravascular leiomyomatosis MONDO MONDO:0003614,MONDO:0003703 subclass +MONDO:0003702 uterus intravascular leiomyomatosis MONDO MONDO:0003703 excluded_subClassOf +MONDO:0003702 uterus intravascular leiomyomatosis MONDO MONDO:0000632,MONDO:0003614 subclass MONDO:0003702 uterus intravascular leiomyomatosis NCIT NCIT:C5356 one_to_one +MONDO:0003702 uterus intravascular leiomyomatosis UBERON UBERON:0000995 disease_has_location MONDO:0003703 uterine corpus leiomyomatosis DOID DOID:5916 one_to_one MONDO:0003703 uterine corpus leiomyomatosis MONDO MONDO:0003295,MONDO:0007886,MONDO:0023616 subclass MONDO:0003703 uterine corpus leiomyomatosis UBERON UBERON:0009853 disease_has_location @@ -18821,9 +18904,10 @@ MONDO:0003721 kidney osteogenic sarcoma NCIT NCIT:C6181 one_to_one MONDO:0003721 kidney osteogenic sarcoma UBERON UBERON:0002113 disease_has_location MONDO:0003721 kidney osteogenic sarcoma UMLS UMLS:C1335747 one_to_one MONDO:0003722 internal auditory canal meningioma DOID DOID:5990 one_to_one -MONDO:0003722 internal auditory canal meningioma MONDO MONDO:0002998 excluded_subClassOf -MONDO:0003722 internal auditory canal meningioma MONDO MONDO:0002132,MONDO:0003121,MONDO:0004532,MONDO:0021322 subclass +MONDO:0003722 internal auditory canal meningioma MONDO MONDO:0002998,MONDO:0004532 excluded_subClassOf +MONDO:0003722 internal auditory canal meningioma MONDO MONDO:0003121,MONDO:0016642,MONDO:0020017,MONDO:0024320 subclass MONDO:0003722 internal auditory canal meningioma NCIT NCIT:C5307 one_to_one +MONDO:0003722 internal auditory canal meningioma UBERON UBERON:0011859 disease_has_location MONDO:0003722 internal auditory canal meningioma UMLS UMLS:C1334227 one_to_one MONDO:0003723 blunt duct adenosis of breast DOID DOID:5996 one_to_one MONDO:0003723 blunt duct adenosis of breast MONDO MONDO:0003724,MONDO:0003725 subclass @@ -18858,7 +18942,7 @@ MONDO:0003729 aleukemic leukemia cutis NCIT NCIT:C26901,NCIT:C3373 has_finding MONDO:0003729 aleukemic leukemia cutis NCIT NCIT:C4983 one_to_one MONDO:0003729 aleukemic leukemia cutis UMLS UMLS:C0887846 one_to_one MONDO:0003730 aleukemic leukemia COHD COHD:4121332 one_to_one -MONDO:0003730 aleukemic leukemia DOID DOID:6004 one_to_one +MONDO:0003730 aleukemic leukemia DOID DOID:12965,DOID:6004 inexact MONDO:0003730 aleukemic leukemia ICD9 ICD9:208.80 inexact MONDO:0003730 aleukemic leukemia MONDO MONDO:0005059 subclass MONDO:0003730 aleukemic leukemia NCIT NCIT:C39739 has_finding @@ -18924,7 +19008,8 @@ MONDO:0003742 heart fibrosarcoma NCIT NCIT:C5361 one_to_one MONDO:0003742 heart fibrosarcoma UBERON UBERON:0000948 disease_has_location MONDO:0003742 heart fibrosarcoma UMLS UMLS:C1332844 one_to_one MONDO:0003743 heart malignant hemangiopericytoma DOID DOID:6034 one_to_one -MONDO:0003743 heart malignant hemangiopericytoma MONDO MONDO:0003354,MONDO:0005094 subclass +MONDO:0003743 heart malignant hemangiopericytoma MONDO MONDO:0003354 excluded_subClassOf +MONDO:0003743 heart malignant hemangiopericytoma MONDO MONDO:0005094,MONDO:0021209 subclass MONDO:0003743 heart malignant hemangiopericytoma NCIT NCIT:C5365 one_to_one MONDO:0003743 heart malignant hemangiopericytoma UBERON UBERON:0000948 disease_has_location MONDO:0003743 heart malignant hemangiopericytoma UMLS UMLS:C1334567 one_to_one @@ -18983,7 +19068,8 @@ MONDO:0003754 Brown-Sequard syndrome MONDO MONDO:0002254,MONDO:0003757 subclass MONDO:0003754 Brown-Sequard syndrome NCIT NCIT:C84601 one_to_one MONDO:0003754 Brown-Sequard syndrome SCTID SCTID:27982003 one_to_one MONDO:0003755 urinary tract non-invasive transitional cell neoplasm DOID DOID:6065 one_to_one -MONDO:0003755 urinary tract non-invasive transitional cell neoplasm MONDO MONDO:0003443 subclass +MONDO:0003755 urinary tract non-invasive transitional cell neoplasm MONDO MONDO:0003443 excluded_subClassOf +MONDO:0003755 urinary tract non-invasive transitional cell neoplasm MONDO MONDO:0024337 subclass MONDO:0003755 urinary tract non-invasive transitional cell neoplasm NCIT NCIT:C36027 has_finding MONDO:0003755 urinary tract non-invasive transitional cell neoplasm NCIT NCIT:C39854 one_to_one MONDO:0003755 urinary tract non-invasive transitional cell neoplasm UMLS UMLS:C1518361 one_to_one @@ -18997,7 +19083,8 @@ MONDO:0003757 paraplegia GARD GARD:0007327 one_to_one MONDO:0003757 paraplegia ICD10 ICD10:G82.2,ICD10:G82.20 inexact MONDO:0003757 paraplegia ICD9 ICD9:344.1 one_to_one MONDO:0003757 paraplegia MESH MESH:D010264 one_to_one -MONDO:0003757 paraplegia MONDO MONDO:0002602 subclass +MONDO:0003757 paraplegia MONDO MONDO:0002602 excluded_subClassOf +MONDO:0003757 paraplegia MONDO MONDO:0006496 subclass MONDO:0003757 paraplegia NCIT NCIT:C50687 one_to_one MONDO:0003757 paraplegia SCTID SCTID:60389000 one_to_one MONDO:0003757 paraplegia UMLS UMLS:C0030486 one_to_one @@ -19090,7 +19177,7 @@ MONDO:0003774 cerebral convexity meningioma MONDO MONDO:0003772 subclass MONDO:0003774 cerebral convexity meningioma NCIT NCIT:C4959 one_to_one MONDO:0003774 cerebral convexity meningioma UMLS UMLS:C0751303 one_to_one MONDO:0003775 lateral ventricle meningioma DOID DOID:6115 one_to_one -MONDO:0003775 lateral ventricle meningioma MONDO MONDO:0002772,MONDO:0016642 subclass +MONDO:0003775 lateral ventricle meningioma MONDO MONDO:0002772,MONDO:0003772,MONDO:0016642 subclass MONDO:0003775 lateral ventricle meningioma NCIT NCIT:C5302 one_to_one MONDO:0003775 lateral ventricle meningioma UBERON UBERON:0002285 disease_has_location MONDO:0003775 lateral ventricle meningioma UMLS UMLS:C1334380 one_to_one @@ -19234,7 +19321,8 @@ MONDO:0003800 conventional malignant hemangiopericytoma MONDO MONDO:0009330 subc MONDO:0003800 conventional malignant hemangiopericytoma NCIT NCIT:C9425 one_to_one MONDO:0003800 conventional malignant hemangiopericytoma UMLS UMLS:C1333158 one_to_one MONDO:0003801 corneal intraepithelial neoplasm DOID DOID:6198 one_to_one -MONDO:0003801 corneal intraepithelial neoplasm MONDO MONDO:0000611,MONDO:0021238,MONDO:0024475 subclass +MONDO:0003801 corneal intraepithelial neoplasm MONDO MONDO:0000611 excluded_subClassOf +MONDO:0003801 corneal intraepithelial neoplasm MONDO MONDO:0021238,MONDO:0024475 subclass MONDO:0003801 corneal intraepithelial neoplasm NCIT NCIT:C6093 one_to_one MONDO:0003801 corneal intraepithelial neoplasm SCTID SCTID:420835009 one_to_one MONDO:0003801 corneal intraepithelial neoplasm UBERON UBERON:0000964 disease_has_location @@ -19372,8 +19460,11 @@ MONDO:0003827 transient hypogammaglobulinemia MONDO MONDO:0016463 subclass MONDO:0003827 transient hypogammaglobulinemia NCIT NCIT:C27319 one_to_one MONDO:0003827 transient hypogammaglobulinemia UMLS UMLS:C0859960 one_to_one MONDO:0003828 growth hormone-producing pituitary gland carcinoma DOID DOID:6256 one_to_one -MONDO:0003828 growth hormone-producing pituitary gland carcinoma MONDO MONDO:0019927 subclass +MONDO:0003828 growth hormone-producing pituitary gland carcinoma GO GO:0030252 realized_in +MONDO:0003828 growth hormone-producing pituitary gland carcinoma MONDO MONDO:0003604 excluded_subClassOf +MONDO:0003828 growth hormone-producing pituitary gland carcinoma MONDO MONDO:0002038,MONDO:0002109,MONDO:0002415,MONDO:0004993,MONDO:0019927 subclass MONDO:0003828 growth hormone-producing pituitary gland carcinoma NCIT NCIT:C5963 one_to_one +MONDO:0003828 growth hormone-producing pituitary gland carcinoma UBERON UBERON:0000007 disease_has_location MONDO:0003828 growth hormone-producing pituitary gland carcinoma UMLS UMLS:C1334587 one_to_one MONDO:0003829 chromophil adenoma of the kidney DOID DOID:6257 one_to_one MONDO:0003829 chromophil adenoma of the kidney MONDO MONDO:0002395,MONDO:0002533 subclass @@ -19580,7 +19671,7 @@ MONDO:0003870 childhood brainstem astrocytoma MONDO MONDO:0002505,MONDO:0003173, MONDO:0003870 childhood brainstem astrocytoma NCIT NCIT:C6216 one_to_one MONDO:0003870 childhood brainstem astrocytoma UMLS UMLS:C1332950 one_to_one MONDO:0003872 ovarian papillary cystadenoma DOID DOID:6405 one_to_one -MONDO:0003872 ovarian papillary cystadenoma MONDO MONDO:0002533,MONDO:0003813,MONDO:0005183,MONDO:0021078 subclass +MONDO:0003872 ovarian papillary cystadenoma MONDO MONDO:0002533,MONDO:0003813,MONDO:0005183 subclass MONDO:0003872 ovarian papillary cystadenoma NCIT NCIT:C7278 one_to_one MONDO:0003872 ovarian papillary cystadenoma UMLS UMLS:C1335175 one_to_one MONDO:0003873 ovarian surface papilloma DOID DOID:6407 one_to_one @@ -19688,7 +19779,8 @@ MONDO:0003895 periosteal osteogenic sarcoma NCIT NCIT:C8970 one_to_one MONDO:0003895 periosteal osteogenic sarcoma ONCOTREE ONCOTREE:PEOS one_to_one MONDO:0003895 periosteal osteogenic sarcoma UMLS UMLS:C1377843 one_to_one MONDO:0003896 breast capillary hemangioma DOID DOID:6491 one_to_one -MONDO:0003896 breast capillary hemangioma MONDO MONDO:0002064,MONDO:0002407,MONDO:0003126 subclass +MONDO:0003896 breast capillary hemangioma MONDO MONDO:0002064 excluded_subClassOf +MONDO:0003896 breast capillary hemangioma MONDO MONDO:0002407,MONDO:0003126 subclass MONDO:0003896 breast capillary hemangioma NCIT NCIT:C5210 one_to_one MONDO:0003896 breast capillary hemangioma UBERON UBERON:0000310 disease_has_location MONDO:0003896 breast capillary hemangioma UMLS UMLS:C1332619 one_to_one @@ -19712,7 +19804,8 @@ MONDO:0003899 adult myxoid chondrosarcoma UMLS UMLS:C1332209 one_to_one MONDO:0003900 connective tissue disease COHD COHD:253549 one_to_one MONDO:0003900 connective tissue disease DOID DOID:65 one_to_one MONDO:0003900 connective tissue disease MESH MESH:D003240 one_to_one -MONDO:0003900 connective tissue disease MONDO MONDO:0000001,MONDO:0002081 subclass +MONDO:0003900 connective tissue disease MONDO MONDO:0002081 excluded_subClassOf +MONDO:0003900 connective tissue disease MONDO MONDO:0000001 subclass MONDO:0003900 connective tissue disease NCIT NCIT:C26729 one_to_one MONDO:0003900 connective tissue disease SCTID SCTID:105969002 one_to_one MONDO:0003900 connective tissue disease UBERON UBERON:0002384 disease_has_location @@ -19838,7 +19931,7 @@ MONDO:0003925 ethmoid sinus inverted papilloma NCIT NCIT:C6843 one_to_one MONDO:0003925 ethmoid sinus inverted papilloma UBERON UBERON:0002453 disease_has_location MONDO:0003925 ethmoid sinus inverted papilloma UMLS UMLS:C1333474 one_to_one MONDO:0003926 neurilemmoma of the pleura DOID DOID:6564 one_to_one -MONDO:0003926 neurilemmoma of the pleura MONDO MONDO:0002546,MONDO:0004820,MONDO:0020000,MONDO:0021457 subclass +MONDO:0003926 neurilemmoma of the pleura MONDO MONDO:0002546,MONDO:0004820,MONDO:0020000,MONDO:0021065 subclass MONDO:0003926 neurilemmoma of the pleura NCIT NCIT:C5418 one_to_one MONDO:0003926 neurilemmoma of the pleura UBERON UBERON:0000977 disease_has_location MONDO:0003926 neurilemmoma of the pleura UMLS UMLS:C1335435 one_to_one @@ -19895,7 +19988,8 @@ MONDO:0003937 spondylitis DOID DOID:6590 one_to_one MONDO:0003937 spondylitis ICD10 ICD10:M46 one_to_one MONDO:0003937 spondylitis ICD9 ICD9:720.8,ICD9:720.89 inexact MONDO:0003937 spondylitis MESH MESH:D013166 one_to_one -MONDO:0003937 spondylitis MONDO MONDO:0000001,MONDO:0005095,MONDO:0021166,MONDO:0045002 subclass +MONDO:0003937 spondylitis MONDO MONDO:0005095 excluded_subClassOf +MONDO:0003937 spondylitis MONDO MONDO:0000001,MONDO:0021166,MONDO:0045002 subclass MONDO:0003937 spondylitis NCIT NCIT:C116779 one_to_one MONDO:0003937 spondylitis SCTID SCTID:84172003 one_to_one MONDO:0003937 spondylitis UBERON UBERON:0002412 disease_has_inflammation_site @@ -19910,8 +20004,9 @@ MONDO:0003940 Kummell disease COHD COHD:81665 one_to_one MONDO:0003940 Kummell disease DOID DOID:6603 one_to_one MONDO:0003940 Kummell disease ICD10 ICD10:M48.3 one_to_one MONDO:0003940 Kummell disease ICD9 ICD9:721.7 one_to_one -MONDO:0003940 Kummell disease MONDO MONDO:0005095 subclass +MONDO:0003940 Kummell disease MONDO MONDO:0005095,MONDO:0005380,MONDO:0020008,MONDO:0045002 subclass MONDO:0003940 Kummell disease SCTID SCTID:111232005 one_to_one +MONDO:0003940 Kummell disease UBERON UBERON:0001075 disease_has_location MONDO:0003940 Kummell disease UMLS UMLS:C0152088 one_to_one MONDO:0003941 classic variant of chromophobe renal cell carcinoma DOID DOID:6605 one_to_one MONDO:0003941 classic variant of chromophobe renal cell carcinoma MONDO MONDO:0017885 subclass @@ -19994,7 +20089,8 @@ MONDO:0003956 Baastrup syndrome COHD COHD:75908 one_to_one MONDO:0003956 Baastrup syndrome DOID DOID:6643 one_to_one MONDO:0003956 Baastrup syndrome ICD10 ICD10:M48.2,ICD10:M48.20 inexact MONDO:0003956 Baastrup syndrome ICD9 ICD9:721.5 one_to_one -MONDO:0003956 Baastrup syndrome MONDO MONDO:0005095 subclass +MONDO:0003956 Baastrup syndrome MONDO MONDO:0005095 excluded_subClassOf +MONDO:0003956 Baastrup syndrome MONDO MONDO:0000812,MONDO:0005381 subclass MONDO:0003956 Baastrup syndrome SCTID SCTID:82304009 one_to_one MONDO:0003956 Baastrup syndrome UMLS UMLS:C0158248 one_to_one MONDO:0003957 adult pineoblastoma DOID DOID:6648 one_to_one @@ -20103,7 +20199,7 @@ MONDO:0003979 intrahepatic bile duct cystadenoma NCIT NCIT:C96835 one_to_one MONDO:0003979 intrahepatic bile duct cystadenoma UBERON UBERON:0003704 disease_has_location MONDO:0003979 intrahepatic bile duct cystadenoma UMLS UMLS:C1334257 one_to_one MONDO:0003980 schwannoma of jugular foramen DOID DOID:6735 one_to_one -MONDO:0003980 schwannoma of jugular foramen MONDO MONDO:0000636,MONDO:0002546,MONDO:0004820,MONDO:0017371,MONDO:0019684,MONDO:0023369,MONDO:0024653 subclass +MONDO:0003980 schwannoma of jugular foramen MONDO MONDO:0002546,MONDO:0004820,MONDO:0017371,MONDO:0019684,MONDO:0023369,MONDO:0024653 subclass MONDO:0003980 schwannoma of jugular foramen NCIT NCIT:C5323 one_to_one MONDO:0003980 schwannoma of jugular foramen UBERON UBERON:0005456 disease_has_location MONDO:0003980 schwannoma of jugular foramen UMLS UMLS:C1334300 one_to_one @@ -20207,7 +20303,9 @@ MONDO:0004001 compartment syndrome GARD GARD:0006141 one_to_one MONDO:0004001 compartment syndrome ICD10 ICD10:T79.A0 one_to_one MONDO:0004001 compartment syndrome ICD9 ICD9:958.8,ICD9:958.90 inexact MONDO:0004001 compartment syndrome MESH MESH:D003161 one_to_one -MONDO:0004001 compartment syndrome MONDO MONDO:0002254,MONDO:0005053 subclass +MONDO:0004001 compartment syndrome MONDO MONDO:0005053 disease_has_feature +MONDO:0004001 compartment syndrome MONDO MONDO:0005053 excluded_subClassOf +MONDO:0004001 compartment syndrome MONDO MONDO:0002254 subclass MONDO:0004001 compartment syndrome NCIT NCIT:C118422 one_to_one MONDO:0004001 compartment syndrome SCTID SCTID:111245009 one_to_one MONDO:0004001 compartment syndrome UMLS UMLS:C0009492 one_to_one @@ -20235,7 +20333,8 @@ MONDO:0004008 flat ductal epithelial atypia MONDO MONDO:0004007 subclass MONDO:0004008 flat ductal epithelial atypia NCIT NCIT:C36086 one_to_one MONDO:0004008 flat ductal epithelial atypia UMLS UMLS:C1333620 one_to_one MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma DOID DOID:6844 one_to_one -MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma MONDO MONDO:0000381,MONDO:0002837 subclass +MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma MONDO MONDO:0000381 excluded_subClassOf +MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma MONDO MONDO:0002837,MONDO:0005221 subclass MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma NCIT NCIT:C34615 has_finding MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma NCIT NCIT:C6186 one_to_one MONDO:0004009 kidney pelvis sarcomatoid transitional cell carcinoma UBERON UBERON:0001224 disease_has_location @@ -20260,16 +20359,20 @@ MONDO:0004014 ethmoid sinus ectopic meningioma MONDO MONDO:0001764 subclass MONDO:0004014 ethmoid sinus ectopic meningioma NCIT NCIT:C5309 one_to_one MONDO:0004014 ethmoid sinus ectopic meningioma UMLS UMLS:C1333475 one_to_one MONDO:0004015 pineal region teratoma DOID DOID:6856 one_to_one -MONDO:0004015 pineal region teratoma MONDO MONDO:0002073,MONDO:0002718,MONDO:0003514,MONDO:0003578 subclass +MONDO:0004015 pineal region teratoma MONDO MONDO:0002073 excluded_subClassOf +MONDO:0004015 pineal region teratoma MONDO MONDO:0002601,MONDO:0002718,MONDO:0015936,MONDO:0021232 subclass MONDO:0004015 pineal region teratoma NCIT NCIT:C6753 one_to_one +MONDO:0004015 pineal region teratoma UBERON UBERON:0001905 disease_has_location MONDO:0004015 pineal region teratoma UMLS UMLS:C1335419 one_to_one MONDO:0004016 pineal region mature teratoma DOID DOID:6857 one_to_one -MONDO:0004016 pineal region mature teratoma MONDO MONDO:0003733,MONDO:0004015 subclass +MONDO:0004016 pineal region mature teratoma MONDO MONDO:0003517,MONDO:0003733,MONDO:0004015 subclass MONDO:0004016 pineal region mature teratoma NCIT NCIT:C6754 one_to_one +MONDO:0004016 pineal region mature teratoma UBERON UBERON:0001905 disease_has_location MONDO:0004016 pineal region mature teratoma UMLS UMLS:C1335417 one_to_one MONDO:0004017 pineal region immature teratoma DOID DOID:6858 one_to_one -MONDO:0004017 pineal region immature teratoma MONDO MONDO:0003735,MONDO:0004015 subclass +MONDO:0004017 pineal region immature teratoma MONDO MONDO:0002073,MONDO:0003514,MONDO:0003578,MONDO:0003735,MONDO:0004015,MONDO:0024746 subclass MONDO:0004017 pineal region immature teratoma NCIT NCIT:C6755 one_to_one +MONDO:0004017 pineal region immature teratoma UBERON UBERON:0001905 disease_has_location MONDO:0004017 pineal region immature teratoma UMLS UMLS:C1335416 one_to_one MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma DOID DOID:6865 one_to_one MONDO:0004019 oxyphilic endometrial endometrioid adenocarcinoma MONDO MONDO:0005461,MONDO:0006192 subclass @@ -20285,7 +20388,8 @@ MONDO:0004021 mediastinal malignant lymphoma NCIT NCIT:C6633 one_to_one MONDO:0004021 mediastinal malignant lymphoma UBERON UBERON:0003728 disease_has_location MONDO:0004021 mediastinal malignant lymphoma UMLS UMLS:C1334665 one_to_one MONDO:0004022 parasagittal meningioma DOID DOID:6869 one_to_one -MONDO:0004022 parasagittal meningioma MONDO MONDO:0003774 subclass +MONDO:0004022 parasagittal meningioma MONDO MONDO:0003774 excluded_subClassOf +MONDO:0004022 parasagittal meningioma MONDO MONDO:0003772 subclass MONDO:0004022 parasagittal meningioma NCIT NCIT:C4960 one_to_one MONDO:0004022 parasagittal meningioma UMLS UMLS:C0751304 one_to_one MONDO:0004024 spinal cord neuroblastoma DOID DOID:6871 one_to_one @@ -20358,7 +20462,7 @@ MONDO:0004040 urinary bladder inverted papilloma UBERON UBERON:0001255 disease_h MONDO:0004040 urinary bladder inverted papilloma UMLS UMLS:C1511190 one_to_one MONDO:0004041 urothelial papilloma DOID DOID:6933 one_to_one MONDO:0004041 urothelial papilloma ICDO ICDO:8120/1 one_to_one -MONDO:0004041 urothelial papilloma MONDO MONDO:0003755,MONDO:0004180,MONDO:0005605 subclass +MONDO:0004041 urothelial papilloma MONDO MONDO:0003443,MONDO:0003755,MONDO:0004180,MONDO:0005605 subclass MONDO:0004041 urothelial papilloma NCIT NCIT:C3090 has_finding MONDO:0004041 urothelial papilloma NCIT NCIT:C3842 one_to_one MONDO:0004041 urothelial papilloma ONCOTREE ONCOTREE:UPA one_to_one @@ -20404,7 +20508,8 @@ MONDO:0004049 combat disorder MONDO MONDO:0003763 subclass MONDO:0004049 combat disorder SCTID SCTID:279611005 one_to_one MONDO:0004050 telangiectatic osteogenic sarcoma DOID DOID:6951 one_to_one MONDO:0004050 telangiectatic osteogenic sarcoma ICDO ICDO:9183/3 one_to_one -MONDO:0004050 telangiectatic osteogenic sarcoma MONDO MONDO:0002631 subclass +MONDO:0004050 telangiectatic osteogenic sarcoma MONDO MONDO:0002631 excluded_subClassOf +MONDO:0004050 telangiectatic osteogenic sarcoma MONDO MONDO:0002629 subclass MONDO:0004050 telangiectatic osteogenic sarcoma NCIT NCIT:C3902 one_to_one MONDO:0004050 telangiectatic osteogenic sarcoma ONCOTREE ONCOTREE:TEOS one_to_one MONDO:0004050 telangiectatic osteogenic sarcoma UMLS UMLS:C0259782 one_to_one @@ -20516,7 +20621,8 @@ MONDO:0004076 tendon sheath lipoma NCIT NCIT:C6499 one_to_one MONDO:0004076 tendon sheath lipoma UBERON UBERON:0000304 disease_has_location MONDO:0004076 tendon sheath lipoma UMLS UMLS:C1336703 one_to_one MONDO:0004077 lumbosacral lipoma DOID DOID:7017 one_to_one -MONDO:0004077 lumbosacral lipoma MONDO MONDO:0000631,MONDO:0000812,MONDO:0005106,MONDO:0044965 subclass +MONDO:0004077 lumbosacral lipoma MONDO MONDO:0000631 excluded_subClassOf +MONDO:0004077 lumbosacral lipoma MONDO MONDO:0000812,MONDO:0005106,MONDO:0044965 subclass MONDO:0004077 lumbosacral lipoma NCIT NCIT:C6500 one_to_one MONDO:0004077 lumbosacral lipoma UBERON UBERON:0006075 disease_has_location MONDO:0004077 lumbosacral lipoma UMLS UMLS:C1334438 one_to_one @@ -20766,7 +20872,8 @@ MONDO:0004128 lung occult large cell carcinoma UMLS UMLS:C1335095 one_to_one MONDO:0004129 cloacogenic carcinoma DOID DOID:7173 one_to_one MONDO:0004129 cloacogenic carcinoma ICDO ICDO:8124/3 one_to_one MONDO:0004129 cloacogenic carcinoma MESH MESH:C563020 one_to_one -MONDO:0004129 cloacogenic carcinoma MONDO MONDO:0006082 subclass +MONDO:0004129 cloacogenic carcinoma MONDO MONDO:0006082 excluded_subClassOf +MONDO:0004129 cloacogenic carcinoma MONDO MONDO:0007108 subclass MONDO:0004129 cloacogenic carcinoma NCIT NCIT:C8255 one_to_one MONDO:0004130 anus basaloid carcinoma DOID DOID:7174 one_to_one MONDO:0004130 anus basaloid carcinoma MONDO MONDO:0003486,MONDO:0006082 subclass @@ -20913,7 +21020,8 @@ MONDO:0004160 female stress incontinence MONDO MONDO:0006026 subclass MONDO:0004160 female stress incontinence NCIT NCIT:C35042 one_to_one MONDO:0004160 female stress incontinence UMLS UMLS:C0038437 one_to_one MONDO:0004161 uterine corpus apoplectic leiomyoma DOID DOID:7241 one_to_one -MONDO:0004161 uterine corpus apoplectic leiomyoma MONDO MONDO:0004162 subclass +MONDO:0004161 uterine corpus apoplectic leiomyoma MONDO MONDO:0004162 excluded_subClassOf +MONDO:0004161 uterine corpus apoplectic leiomyoma MONDO MONDO:0007886 subclass MONDO:0004161 uterine corpus apoplectic leiomyoma NCIT NCIT:C35380,NCIT:C41428 has_finding MONDO:0004161 uterine corpus apoplectic leiomyoma NCIT NCIT:C40165 one_to_one MONDO:0004161 uterine corpus apoplectic leiomyoma UMLS UMLS:C1519852 one_to_one @@ -20944,6 +21052,7 @@ MONDO:0004166 hereditary fallopian tube carcinoma NCIT NCIT:C40455 one_to_one MONDO:0004166 hereditary fallopian tube carcinoma UMLS UMLS:C1512418 one_to_one MONDO:0004168 cribriform variant testicular seminoma DOID DOID:7269 one_to_one MONDO:0004168 cribriform variant testicular seminoma MONDO MONDO:0003669 subclass +MONDO:0004168 cribriform variant testicular seminoma NCIT NCIT:C35920 disease_has_feature MONDO:0004168 cribriform variant testicular seminoma NCIT NCIT:C40957 one_to_one MONDO:0004168 cribriform variant testicular seminoma UMLS UMLS:C1515292 one_to_one MONDO:0004169 premenstrual tension DOID DOID:727 one_to_one @@ -20978,7 +21087,7 @@ MONDO:0004175 mucin-rich endometrial endometrioid adenocarcinoma NCIT NCIT:C8717 MONDO:0004175 mucin-rich endometrial endometrioid adenocarcinoma UMLS UMLS:C1513711 one_to_one MONDO:0004176 childhood extraosseous osteosarcoma DOID DOID:7297 one_to_one MONDO:0004176 childhood extraosseous osteosarcoma HP HP:0011463 has_modifier -MONDO:0004176 childhood extraosseous osteosarcoma MONDO MONDO:0002621,MONDO:0002623 subclass +MONDO:0004176 childhood extraosseous osteosarcoma MONDO MONDO:0002621,MONDO:0002623,MONDO:0036491 subclass MONDO:0004176 childhood extraosseous osteosarcoma NCIT NCIT:C27376 one_to_one MONDO:0004176 childhood extraosseous osteosarcoma UMLS UMLS:C1332968 one_to_one MONDO:0004177 benign urethral neoplasm COHD COHD:196377 one_to_one @@ -21082,7 +21191,8 @@ MONDO:0004195 thymic dysplasia MONDO MONDO:0003393 subclass MONDO:0004195 thymic dysplasia NCIT NCIT:C27802 one_to_one MONDO:0004195 thymic dysplasia UMLS UMLS:C1331541 one_to_one MONDO:0004196 rectal sarcomatoid carcinoma DOID DOID:7356 one_to_one -MONDO:0004196 rectal sarcomatoid carcinoma MONDO MONDO:0006406,MONDO:0018515,MONDO:0021663 subclass +MONDO:0004196 rectal sarcomatoid carcinoma MONDO MONDO:0018515 excluded_subClassOf +MONDO:0004196 rectal sarcomatoid carcinoma MONDO MONDO:0006406,MONDO:0044937 subclass MONDO:0004196 rectal sarcomatoid carcinoma NCIT NCIT:C27054,NCIT:C36104 has_finding MONDO:0004196 rectal sarcomatoid carcinoma NCIT NCIT:C5556 one_to_one MONDO:0004196 rectal sarcomatoid carcinoma UBERON UBERON:0001052 disease_has_location @@ -21131,7 +21241,8 @@ MONDO:0004205 lymphohistiocytoid mesothelioma MONDO MONDO:0006407 subclass MONDO:0004205 lymphohistiocytoid mesothelioma NCIT NCIT:C27779 one_to_one MONDO:0004205 lymphohistiocytoid mesothelioma UMLS UMLS:C1334464 one_to_one MONDO:0004206 pulmonary vein leiomyosarcoma DOID DOID:7388 one_to_one -MONDO:0004206 pulmonary vein leiomyosarcoma MONDO MONDO:0004207,MONDO:0004634,MONDO:0005058 subclass +MONDO:0004206 pulmonary vein leiomyosarcoma MONDO MONDO:0004207 excluded_subClassOf +MONDO:0004206 pulmonary vein leiomyosarcoma MONDO MONDO:0004634,MONDO:0005058,MONDO:0016982,MONDO:0040676 subclass MONDO:0004206 pulmonary vein leiomyosarcoma NCIT NCIT:C5374 one_to_one MONDO:0004206 pulmonary vein leiomyosarcoma UBERON UBERON:0002016 disease_has_location MONDO:0004206 pulmonary vein leiomyosarcoma UMLS UMLS:C1335575 one_to_one @@ -21141,7 +21252,8 @@ MONDO:0004207 pulmonary artery leiomyosarcoma NCIT NCIT:C5373 one_to_one MONDO:0004207 pulmonary artery leiomyosarcoma UBERON UBERON:0002012 disease_has_location MONDO:0004207 pulmonary artery leiomyosarcoma UMLS UMLS:C1335572 one_to_one MONDO:0004208 superior vena cava leiomyosarcoma DOID DOID:7390 one_to_one -MONDO:0004208 superior vena cava leiomyosarcoma MONDO MONDO:0003032,MONDO:0004207,MONDO:0005058 subclass +MONDO:0004208 superior vena cava leiomyosarcoma MONDO MONDO:0004207 excluded_subClassOf +MONDO:0004208 superior vena cava leiomyosarcoma MONDO MONDO:0003032,MONDO:0005058 subclass MONDO:0004208 superior vena cava leiomyosarcoma NCIT NCIT:C6745 one_to_one MONDO:0004208 superior vena cava leiomyosarcoma UBERON UBERON:0001585 disease_has_location MONDO:0004208 superior vena cava leiomyosarcoma UMLS UMLS:C1336531 one_to_one @@ -21209,7 +21321,7 @@ MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial c MONDO:0004220 endometrial endometrioid adenocarcinoma with spindled epithelial cells UMLS UMLS:C1336913 one_to_one MONDO:0004221 uterine corpus perivascular epithelioid cell tumor DOID DOID:7437 one_to_one MONDO:0004221 uterine corpus perivascular epithelioid cell tumor MONDO MONDO:0006003 excluded_subClassOf -MONDO:0004221 uterine corpus perivascular epithelioid cell tumor MONDO MONDO:0006359,MONDO:0021254 subclass +MONDO:0004221 uterine corpus perivascular epithelioid cell tumor MONDO MONDO:0004526,MONDO:0006359 subclass MONDO:0004221 uterine corpus perivascular epithelioid cell tumor NCIT NCIT:C40180 one_to_one MONDO:0004221 uterine corpus perivascular epithelioid cell tumor ONCOTREE ONCOTREE:UPECOMA one_to_one MONDO:0004221 uterine corpus perivascular epithelioid cell tumor UBERON UBERON:0009853 disease_has_location @@ -21539,7 +21651,8 @@ MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant NCIT MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant ONCOTREE ONCOTREE:SCB one_to_one MONDO:0004278 infiltrating bladder urothelial carcinoma sarcomatoid variant UMLS UMLS:C1512743,UMLS:C1512744,UMLS:C1512745 inexact MONDO:0004279 glossopharyngeal motor neuropathy DOID DOID:7558 one_to_one -MONDO:0004279 glossopharyngeal motor neuropathy MONDO MONDO:0002316,MONDO:0002639,MONDO:0004004 subclass +MONDO:0004279 glossopharyngeal motor neuropathy MONDO MONDO:0004004 excluded_subClassOf +MONDO:0004279 glossopharyngeal motor neuropathy MONDO MONDO:0002316,MONDO:0002639 subclass MONDO:0004279 glossopharyngeal motor neuropathy NCIT NCIT:C27212 one_to_one MONDO:0004279 glossopharyngeal motor neuropathy UBERON UBERON:0001649 disease_has_location MONDO:0004279 glossopharyngeal motor neuropathy UMLS UMLS:C0751942 one_to_one @@ -21558,7 +21671,8 @@ MONDO:0004283 vulvar clear cell hidradenocarcinoma NCIT NCIT:C40307 one_to_one MONDO:0004283 vulvar clear cell hidradenocarcinoma UMLS UMLS:C1520076 one_to_one MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma DOID DOID:7574 one_to_one MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma ICD10 ICD10:C25.3 inexact -MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma MONDO MONDO:0006047,MONDO:0016314 subclass +MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma MONDO MONDO:0006047 excluded_subClassOf +MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma MONDO MONDO:0016314 subclass MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma NCIT NCIT:C5725 one_to_one MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma Orphanet Orphanet:424058 one_to_one MONDO:0004285 pancreatic intraductal papillary-mucinous carcinoma UMLS UMLS:C1335304 one_to_one @@ -21663,7 +21777,7 @@ MONDO:0004305 parathyroid oncocytic adenoma MONDO MONDO:0003424,MONDO:0006890 su MONDO:0004305 parathyroid oncocytic adenoma NCIT NCIT:C27393 one_to_one MONDO:0004305 parathyroid oncocytic adenoma UMLS UMLS:C1335351 one_to_one MONDO:0004306 childhood intracortical osteosarcoma DOID DOID:7612 one_to_one -MONDO:0004306 childhood intracortical osteosarcoma MONDO MONDO:0002623,MONDO:0004300 subclass +MONDO:0004306 childhood intracortical osteosarcoma MONDO MONDO:0002623,MONDO:0004300,MONDO:0036491 subclass MONDO:0004306 childhood intracortical osteosarcoma NCIT NCIT:C6590 one_to_one MONDO:0004306 childhood intracortical osteosarcoma UMLS UMLS:C1332974 one_to_one MONDO:0004307 sarcomatosis of the meninges DOID DOID:7613 one_to_one @@ -21803,8 +21917,10 @@ MONDO:0004332 lung hilum cancer SCTID SCTID:93827000 one_to_one MONDO:0004332 lung hilum cancer UBERON UBERON:0004886 disease_has_location MONDO:0004332 lung hilum cancer UMLS UMLS:C0346601,UMLS:C2607931 inexact MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor DOID DOID:7697 one_to_one +MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor GO GO:0051458 realized_in MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor ICDO ICDO:8158/1 inexact -MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor MONDO MONDO:0005815 subclass +MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor MONDO MONDO:0018912 disease_has_feature +MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor MONDO MONDO:0023206 subclass MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor NCIT NCIT:C27466 one_to_one MONDO:0004333 pancreatic ACTH-producing neuroendocrine tumor UMLS UMLS:C1335300 one_to_one MONDO:0004334 non-functional pancreatic neuroendocrine tumor DOID DOID:7698 one_to_one @@ -21814,6 +21930,7 @@ MONDO:0004334 non-functional pancreatic neuroendocrine tumor ICDO ICDO:8150/3 in MONDO:0004334 non-functional pancreatic neuroendocrine tumor MESH MESH:C536126 one_to_one MONDO:0004334 non-functional pancreatic neuroendocrine tumor MONDO MONDO:0019954,MONDO:0021119 subclass MONDO:0004334 non-functional pancreatic neuroendocrine tumor NCIT NCIT:C36105,NCIT:C45980 has_finding +MONDO:0004334 non-functional pancreatic neuroendocrine tumor NCIT NCIT:C45980 has_modifier MONDO:0004334 non-functional pancreatic neuroendocrine tumor NCIT NCIT:C45837 one_to_one MONDO:0004334 non-functional pancreatic neuroendocrine tumor Orphanet Orphanet:506075 one_to_one MONDO:0004334 non-functional pancreatic neuroendocrine tumor UMLS UMLS:C1334977 one_to_one @@ -21998,7 +22115,7 @@ MONDO:0004373 adult papillary meningioma NCIT NCIT:C8293 one_to_one MONDO:0004373 adult papillary meningioma UMLS UMLS:C0281334 one_to_one MONDO:0004374 adult extraskeletal osteosarcoma DOID DOID:7827 one_to_one MONDO:0004374 adult extraskeletal osteosarcoma HP HP:0003581 has_modifier -MONDO:0004374 adult extraskeletal osteosarcoma MONDO MONDO:0002621 subclass +MONDO:0004374 adult extraskeletal osteosarcoma MONDO MONDO:0002129,MONDO:0002621 subclass MONDO:0004374 adult extraskeletal osteosarcoma NCIT NCIT:C7925 one_to_one MONDO:0004374 adult extraskeletal osteosarcoma UMLS UMLS:C0278985 one_to_one MONDO:0004375 end stage renal failure COHD COHD:193782 one_to_one @@ -22114,7 +22231,7 @@ MONDO:0004397 benign mediastinal psammomatous neurilemmoma MONDO MONDO:0004398 s MONDO:0004397 benign mediastinal psammomatous neurilemmoma NCIT NCIT:C6636 one_to_one MONDO:0004397 benign mediastinal psammomatous neurilemmoma UMLS UMLS:C1332513 one_to_one MONDO:0004398 mediastinal schwannoma DOID DOID:6175,DOID:7922 inexact -MONDO:0004398 mediastinal schwannoma MONDO MONDO:0002546,MONDO:0003098,MONDO:0004818,MONDO:0004820,MONDO:0021521 subclass +MONDO:0004398 mediastinal schwannoma MONDO MONDO:0000638,MONDO:0002546,MONDO:0003098,MONDO:0004818,MONDO:0004820,MONDO:0021521 subclass MONDO:0004398 mediastinal schwannoma NCIT NCIT:C6643 one_to_one MONDO:0004398 mediastinal schwannoma UBERON UBERON:0003728 disease_has_location MONDO:0004398 mediastinal schwannoma UMLS UMLS:C1334679 one_to_one @@ -22179,10 +22296,10 @@ MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor UBERON UBERON:0002 MONDO:0004411 duodenal gastrin-producing neuroendocrine tumor UMLS UMLS:C1333321 one_to_one MONDO:0004412 malignant spiradenoma DOID DOID:7960 one_to_one MONDO:0004412 malignant spiradenoma ICDO ICDO:8403/3 one_to_one -MONDO:0004412 malignant spiradenoma MONDO MONDO:0003215,MONDO:0003448,MONDO:0024240 subclass +MONDO:0004412 malignant spiradenoma MONDO MONDO:0003448 disease_arises_from_feature +MONDO:0004412 malignant spiradenoma MONDO MONDO:0024240,MONDO:0024882 subclass MONDO:0004412 malignant spiradenoma NCIT NCIT:C62208 has_finding MONDO:0004412 malignant spiradenoma NCIT NCIT:C5117 one_to_one -MONDO:0004412 malignant spiradenoma PATO PATO:0002097 has_modifier MONDO:0004412 malignant spiradenoma SCTID SCTID:403942003 one_to_one MONDO:0004412 malignant spiradenoma UMLS UMLS:C1266063 one_to_one MONDO:0004413 cervical non-keratinizing squamous cell carcinoma DOID DOID:7961 one_to_one @@ -22217,12 +22334,12 @@ MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma MO MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma NCIT NCIT:C39822 one_to_one MONDO:0004419 lymphoma-like variant infiltrating bladder urothelial carcinoma UMLS UMLS:C1512739 one_to_one MONDO:0004420 breast malignant eccrine spiradenoma DOID DOID:7983 one_to_one -MONDO:0004420 breast malignant eccrine spiradenoma MONDO MONDO:0004412,MONDO:0015946,MONDO:0015950,MONDO:0015981,MONDO:0016250,MONDO:0016419 subclass +MONDO:0004420 breast malignant eccrine spiradenoma MONDO MONDO:0004412,MONDO:0004988 subclass MONDO:0004420 breast malignant eccrine spiradenoma NCIT NCIT:C5180 one_to_one MONDO:0004420 breast malignant eccrine spiradenoma UBERON UBERON:0000310 disease_has_location MONDO:0004420 breast malignant eccrine spiradenoma UMLS UMLS:C1334565 one_to_one MONDO:0004421 sclerosing breast papilloma DOID DOID:7984 one_to_one -MONDO:0004421 sclerosing breast papilloma MONDO MONDO:0002059,MONDO:0021097 subclass +MONDO:0004421 sclerosing breast papilloma MONDO MONDO:0021097 subclass MONDO:0004421 sclerosing breast papilloma NCIT NCIT:C61066 has_finding MONDO:0004421 sclerosing breast papilloma NCIT NCIT:C27944 one_to_one MONDO:0004421 sclerosing breast papilloma UMLS UMLS:C1335932 one_to_one @@ -22363,8 +22480,9 @@ MONDO:0004449 intraductal breast myoepitheliosis NCIT NCIT:C40387 one_to_one MONDO:0004449 intraductal breast myoepitheliosis UMLS UMLS:C1512935 one_to_one MONDO:0004450 carotid artery occlusion DOID DOID:807 one_to_one MONDO:0004450 carotid artery occlusion ICD9 ICD9:433.10 inexact -MONDO:0004450 carotid artery occlusion MONDO MONDO:0003718 subclass +MONDO:0004450 carotid artery occlusion MONDO MONDO:0003718,MONDO:0005269 subclass MONDO:0004450 carotid artery occlusion SCTID SCTID:266254007 one_to_one +MONDO:0004450 carotid artery occlusion UBERON UBERON:0005396 disease_has_location MONDO:0004450 carotid artery occlusion UMLS UMLS:C0265101 one_to_one MONDO:0004451 sarcomatous intrahepatic cholangiocarcinoma DOID DOID:8072 one_to_one MONDO:0004451 sarcomatous intrahepatic cholangiocarcinoma MONDO MONDO:0003210 subclass @@ -22507,7 +22625,7 @@ MONDO:0004479 malignant childhood germ cell neoplasm NCIT NCIT:C6541 one_to_one MONDO:0004479 malignant childhood germ cell neoplasm UMLS UMLS:C1334574 one_to_one MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma DOID DOID:8150 one_to_one MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma ICDO ICDO:8453/3 one_to_one -MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma MONDO MONDO:0004285,MONDO:0004286 subclass +MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma MONDO MONDO:0004285,MONDO:0004286,MONDO:0006047 subclass MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma NCIT NCIT:C35954 has_finding MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma NCIT NCIT:C5726 one_to_one MONDO:0004481 pancreatic intraductal papillary-mucinous neoplasm with an associated invasive carcinoma UMLS UMLS:C1518871 one_to_one @@ -22565,7 +22683,8 @@ MONDO:0004492 mediastinitis DOID DOID:819 one_to_one MONDO:0004492 mediastinitis ICD10 ICD10:J98.5,ICD10:J98.51 inexact MONDO:0004492 mediastinitis ICD9 ICD9:519.2 one_to_one MONDO:0004492 mediastinitis MESH MESH:D008480 one_to_one -MONDO:0004492 mediastinitis MONDO MONDO:0000001,MONDO:0003900,MONDO:0021166,MONDO:0043707 subclass +MONDO:0004492 mediastinitis MONDO MONDO:0003900 excluded_subClassOf +MONDO:0004492 mediastinitis MONDO MONDO:0000001,MONDO:0021166,MONDO:0043707 subclass MONDO:0004492 mediastinitis NCIT NCIT:C26827 one_to_one MONDO:0004492 mediastinitis SCTID SCTID:47597000 one_to_one MONDO:0004492 mediastinitis UBERON UBERON:0003728 disease_has_inflammation_site @@ -22638,15 +22757,15 @@ MONDO:0004504 penile urethral cancer NCIT NCIT:C39868 one_to_one MONDO:0004504 penile urethral cancer UBERON UBERON:0000989 disease_has_location MONDO:0004504 penile urethral cancer UMLS UMLS:C1518950 one_to_one MONDO:0004505 central breast papilloma DOID DOID:8224 one_to_one -MONDO:0004505 central breast papilloma MONDO MONDO:0002059,MONDO:0021097 subclass +MONDO:0004505 central breast papilloma MONDO MONDO:0021097 subclass MONDO:0004505 central breast papilloma NCIT NCIT:C36087 one_to_one MONDO:0004505 central breast papilloma UMLS UMLS:C1332896 one_to_one MONDO:0004506 microscopic breast papilloma DOID DOID:8225 one_to_one -MONDO:0004506 microscopic breast papilloma MONDO MONDO:0002059,MONDO:0021097 subclass +MONDO:0004506 microscopic breast papilloma MONDO MONDO:0021097 subclass MONDO:0004506 microscopic breast papilloma NCIT NCIT:C36088 one_to_one MONDO:0004506 microscopic breast papilloma UMLS UMLS:C1335390 one_to_one MONDO:0004507 atypical breast papilloma DOID DOID:8227 one_to_one -MONDO:0004507 atypical breast papilloma MONDO MONDO:0002059,MONDO:0021097 subclass +MONDO:0004507 atypical breast papilloma MONDO MONDO:0021097 subclass MONDO:0004507 atypical breast papilloma NCIT NCIT:C9478 has_finding MONDO:0004507 atypical breast papilloma NCIT NCIT:C36089 one_to_one MONDO:0004507 atypical breast papilloma UMLS UMLS:C1332346 one_to_one @@ -22692,8 +22811,6 @@ MONDO:0004514 chronic rhinitis NCIT NCIT:C34479 one_to_one MONDO:0004514 chronic rhinitis PATO PATO:0001863 has_modifier MONDO:0004514 chronic rhinitis SCTID SCTID:86094006 one_to_one MONDO:0004514 chronic rhinitis UMLS UMLS:C0008711 one_to_one -MONDO:0004515 olfactory neural tumor DOID DOID:8256 one_to_one -MONDO:0004515 olfactory neural tumor MONDO MONDO:0002722 subclass MONDO:0004516 bulbomembranous urethral cancer DOID DOID:8259 one_to_one MONDO:0004516 bulbomembranous urethral cancer MONDO MONDO:0004197 subclass MONDO:0004516 bulbomembranous urethral cancer NCIT NCIT:C39869 one_to_one @@ -22710,7 +22827,8 @@ MONDO:0004518 anterior urethra cancer MONDO MONDO:0004192 subclass MONDO:0004518 anterior urethra cancer NCIT NCIT:C7641 one_to_one MONDO:0004518 anterior urethra cancer UMLS UMLS:C0279930 one_to_one MONDO:0004519 synovial angioma DOID DOID:8274 one_to_one -MONDO:0004519 synovial angioma MONDO MONDO:0003096,MONDO:0006500 subclass +MONDO:0004519 synovial angioma MONDO MONDO:0003096 excluded_subClassOf +MONDO:0004519 synovial angioma MONDO MONDO:0006500,MONDO:0024715 subclass MONDO:0004519 synovial angioma NCIT NCIT:C6525 one_to_one MONDO:0004519 synovial angioma UBERON UBERON:0007616 disease_has_location MONDO:0004519 synovial angioma UMLS UMLS:C1336546 one_to_one @@ -22759,7 +22877,9 @@ MONDO:0004526 mixed endometrial stromal and smooth muscle tumor NCIT NCIT:C40178 MONDO:0004526 mixed endometrial stromal and smooth muscle tumor UBERON UBERON:0009853 disease_has_location MONDO:0004526 mixed endometrial stromal and smooth muscle tumor UMLS UMLS:C1513364,UMLS:C1519865 inexact MONDO:0004527 congenital granular cell tumor DOID DOID:8303 one_to_one -MONDO:0004527 congenital granular cell tumor MONDO MONDO:0002616 subclass +MONDO:0004527 congenital granular cell tumor MONDO MONDO:0002616 excluded_subClassOf +MONDO:0004527 congenital granular cell tumor MONDO MONDO:0021140 has_modifier +MONDO:0004527 congenital granular cell tumor MONDO MONDO:0002320,MONDO:0006235 subclass MONDO:0004528 lymph node palisaded myofibroblastoma DOID DOID:8304 one_to_one MONDO:0004528 lymph node palisaded myofibroblastoma MONDO MONDO:0001082 excluded_subClassOf MONDO:0004528 lymph node palisaded myofibroblastoma MONDO MONDO:0024339,MONDO:0040675,MONDO:0044965 subclass @@ -22837,7 +22957,8 @@ MONDO:0004543 enteric pattern testicular yolk sac tumor NCIT NCIT:C39932 one_to_ MONDO:0004543 enteric pattern testicular yolk sac tumor UMLS UMLS:C1515304 one_to_one MONDO:0004544 chordoid meningioma DOID DOID:8368 one_to_one MONDO:0004544 chordoid meningioma EFO EFO:1000176 one_to_one -MONDO:0004544 chordoid meningioma MONDO MONDO:0002918 subclass +MONDO:0004544 chordoid meningioma MONDO MONDO:0002918 excluded_subClassOf +MONDO:0004544 chordoid meningioma MONDO MONDO:0045056 subclass MONDO:0004544 chordoid meningioma NCIT NCIT:C35980,NCIT:C35998 has_finding MONDO:0004544 chordoid meningioma NCIT NCIT:C6908 one_to_one MONDO:0004544 chordoid meningioma ONCOTREE ONCOTREE:CHOM one_to_one @@ -22849,7 +22970,7 @@ MONDO:0004545 adult malignant schwannoma NCIT NCIT:C60643 has_finding MONDO:0004545 adult malignant schwannoma NCIT NCIT:C7814 one_to_one MONDO:0004545 adult malignant schwannoma UMLS UMLS:C0278622 one_to_one MONDO:0004546 lumbar plexus neoplasm DOID DOID:8389 one_to_one -MONDO:0004546 lumbar plexus neoplasm MONDO MONDO:0003100,MONDO:0005070 subclass +MONDO:0004546 lumbar plexus neoplasm MONDO MONDO:0001829,MONDO:0003100,MONDO:0005070 subclass MONDO:0004546 lumbar plexus neoplasm NCIT NCIT:C5824 one_to_one MONDO:0004546 lumbar plexus neoplasm UBERON UBERON:0034987 disease_has_location MONDO:0004546 lumbar plexus neoplasm UMLS UMLS:C1334437 one_to_one @@ -22900,7 +23021,7 @@ MONDO:0004554 childhood kidney angiomyolipoma NCIT NCIT:C6565 one_to_one MONDO:0004554 childhood kidney angiomyolipoma UMLS UMLS:C1333000 one_to_one MONDO:0004555 kidney angiomyolipoma DOID DOID:8411 one_to_one MONDO:0004555 kidney angiomyolipoma EFO EFO:1000312 one_to_one -MONDO:0004555 kidney angiomyolipoma MONDO MONDO:0002513,MONDO:0002603,MONDO:0003342 subclass +MONDO:0004555 kidney angiomyolipoma MONDO MONDO:0002513,MONDO:0002603,MONDO:0044335 subclass MONDO:0004555 kidney angiomyolipoma NCIT NCIT:C3888 one_to_one MONDO:0004555 kidney angiomyolipoma ONCOTREE ONCOTREE:RAML one_to_one MONDO:0004555 kidney angiomyolipoma SCTID SCTID:254921004 one_to_one @@ -22986,10 +23107,11 @@ MONDO:0004568 paralytic ileus (disease) MONDO MONDO:0004567 subclass MONDO:0004568 paralytic ileus (disease) NCIT NCIT:C93045 one_to_one MONDO:0004568 paralytic ileus (disease) SCTID SCTID:55525008 one_to_one MONDO:0004568 paralytic ileus (disease) UMLS UMLS:C0030446 one_to_one -MONDO:0004569 brachial plexus lesion DOID DOID:8443 one_to_one -MONDO:0004569 brachial plexus lesion ICD9 ICD9:353.0 inexact -MONDO:0004569 brachial plexus lesion MONDO MONDO:0006683 subclass -MONDO:0004569 brachial plexus lesion UMLS UMLS:C0006091 one_to_one +MONDO:0004569 brachial plexus neuropathy from injury DOID DOID:8443 one_to_one +MONDO:0004569 brachial plexus neuropathy from injury ICD9 ICD9:353.0 inexact +MONDO:0004569 brachial plexus neuropathy from injury MONDO MONDO:0021178 disease_arises_from_feature +MONDO:0004569 brachial plexus neuropathy from injury MONDO MONDO:0006683 subclass +MONDO:0004569 brachial plexus neuropathy from injury UMLS UMLS:C0006091 one_to_one MONDO:0004570 intestinal volvulus COHD COHD:197603 one_to_one MONDO:0004570 intestinal volvulus DOID DOID:8445 one_to_one MONDO:0004570 intestinal volvulus EFO EFO:1000989 one_to_one @@ -23009,7 +23131,8 @@ MONDO:0004572 cyclothymic disorder DOID DOID:845 one_to_one MONDO:0004572 cyclothymic disorder ICD10 ICD10:F34.0 one_to_one MONDO:0004572 cyclothymic disorder ICD9 ICD9:301.1,ICD9:301.10,ICD9:301.13 inexact MONDO:0004572 cyclothymic disorder MESH MESH:D003527 one_to_one -MONDO:0004572 cyclothymic disorder MONDO MONDO:0004985 subclass +MONDO:0004572 cyclothymic disorder MONDO MONDO:0004985 excluded_subClassOf +MONDO:0004572 cyclothymic disorder MONDO MONDO:0005371 subclass MONDO:0004572 cyclothymic disorder SCTID SCTID:76105009 one_to_one MONDO:0004573 ariboflavinosis COHD COHD:432580 one_to_one MONDO:0004573 ariboflavinosis DOID DOID:8454 one_to_one @@ -23082,7 +23205,8 @@ MONDO:0004583 transient retinal arterial occlusion UMLS UMLS:C0154840 one_to_one MONDO:0004584 maple bark strippers' lung DOID DOID:8484 one_to_one MONDO:0004584 maple bark strippers' lung ICD10 ICD10:J67.6 inexact MONDO:0004584 maple bark strippers' lung ICD9 ICD9:495.6 one_to_one -MONDO:0004584 maple bark strippers' lung MONDO MONDO:0002312 subclass +MONDO:0004584 maple bark strippers' lung MONDO MONDO:0002312,MONDO:0005766,MONDO:0015578,MONDO:0017853 subclass +MONDO:0004584 maple bark strippers' lung NCBITaxon NCBITaxon:1463975 realized_in_response_to MONDO:0004584 maple bark strippers' lung SCTID SCTID:86638007 one_to_one MONDO:0004584 maple bark strippers' lung UMLS UMLS:C0155890 one_to_one MONDO:0004585 polyhydramnios (disease) DOID DOID:8488 one_to_one @@ -23090,8 +23214,10 @@ MONDO:0004585 polyhydramnios (disease) HP HP:0001561 one_to_one MONDO:0004585 polyhydramnios (disease) ICD10 ICD10:O40 one_to_one MONDO:0004585 polyhydramnios (disease) ICD9 ICD9:657,ICD9:657.0,ICD9:657.00 inexact MONDO:0004585 polyhydramnios (disease) MESH MESH:D006831 one_to_one -MONDO:0004585 polyhydramnios (disease) MONDO MONDO:0005917 subclass +MONDO:0004585 polyhydramnios (disease) MONDO MONDO:0005917 excluded_subClassOf +MONDO:0004585 polyhydramnios (disease) MONDO MONDO:0024575 subclass MONDO:0004585 polyhydramnios (disease) SCTID SCTID:86203003 one_to_one +MONDO:0004585 polyhydramnios (disease) UBERON UBERON:0000301 disease_has_location MONDO:0004586 rheumatoid lung disease COHD COHD:256197 one_to_one MONDO:0004586 rheumatoid lung disease DOID DOID:849 one_to_one MONDO:0004586 rheumatoid lung disease ICD9 ICD9:714.81 one_to_one @@ -23103,7 +23229,7 @@ MONDO:0004587 hereditary night blindness DOID DOID:8498 one_to_one MONDO:0004587 hereditary night blindness ICD10 ICD10:H53.63 inexact MONDO:0004587 hereditary night blindness ICD9 ICD9:368.61 inexact MONDO:0004587 hereditary night blindness MONDO MONDO:0021152 has_modifier -MONDO:0004587 hereditary night blindness MONDO MONDO:0003847,MONDO:0004588,MONDO:0015107 subclass +MONDO:0004587 hereditary night blindness MONDO MONDO:0002320,MONDO:0003847,MONDO:0004588,MONDO:0015107 subclass MONDO:0004587 hereditary night blindness SCTID SCTID:193687000 one_to_one MONDO:0004588 night blindness COHD COHD:374037 one_to_one MONDO:0004588 night blindness DOID DOID:8499 one_to_one @@ -23114,15 +23240,6 @@ MONDO:0004588 night blindness MONDO MONDO:0001941,MONDO:0005283 subclass MONDO:0004588 night blindness NCIT NCIT:C34850 one_to_one MONDO:0004588 night blindness SCTID SCTID:65194006 one_to_one MONDO:0004588 night blindness UMLS UMLS:C0028077 one_to_one -MONDO:0004589 hereditary retinal dystrophy COHD COHD:377270 one_to_one -MONDO:0004589 hereditary retinal dystrophy DOID DOID:8500 one_to_one -MONDO:0004589 hereditary retinal dystrophy ICD10 ICD10:H35.5,ICD10:H35.50 inexact -MONDO:0004589 hereditary retinal dystrophy ICD9 ICD9:362.7,ICD9:362.70 inexact -MONDO:0004589 hereditary retinal dystrophy MONDO MONDO:0021152 has_modifier -MONDO:0004589 hereditary retinal dystrophy MONDO MONDO:0003847,MONDO:0019118 subclass -MONDO:0004589 hereditary retinal dystrophy NCIT NCIT:C35194 one_to_one -MONDO:0004589 hereditary retinal dystrophy SCTID SCTID:41799005 one_to_one -MONDO:0004589 hereditary retinal dystrophy UMLS UMLS:C0154860 one_to_one MONDO:0004591 impetigo herpetiformis DOID DOID:8503 one_to_one MONDO:0004591 impetigo herpetiformis EFO EFO:1000715 one_to_one MONDO:0004591 impetigo herpetiformis ICD10 ICD10:L40.1 inexact @@ -23145,7 +23262,7 @@ MONDO:0004593 Bartholin duct cyst COHD COHD:259865 one_to_one MONDO:0004593 Bartholin duct cyst DOID DOID:851 one_to_one MONDO:0004593 Bartholin duct cyst ICD10 ICD10:N75.0 one_to_one MONDO:0004593 Bartholin duct cyst ICD9 ICD9:616.2 one_to_one -MONDO:0004593 Bartholin duct cyst MONDO MONDO:0002051,MONDO:0002263,MONDO:0045027 subclass +MONDO:0004593 Bartholin duct cyst MONDO MONDO:0002051,MONDO:0002263 subclass MONDO:0004593 Bartholin duct cyst SCTID SCTID:57044006 one_to_one MONDO:0004593 Bartholin duct cyst UBERON UBERON:0000460 disease_has_location MONDO:0004593 Bartholin duct cyst UMLS UMLS:C0004767 one_to_one @@ -23190,7 +23307,7 @@ MONDO:0004600 monocytic leukemia COHD COHD:321526 one_to_one MONDO:0004600 monocytic leukemia DOID DOID:8527 one_to_one MONDO:0004600 monocytic leukemia ICD10 ICD10:C93.Z,ICD10:C93.Z0 inexact MONDO:0004600 monocytic leukemia ICD9 ICD9:206.8,ICD9:206.80,ICD9:206.81,ICD9:206.90,ICD9:206.91 inexact -MONDO:0004600 monocytic leukemia MONDO MONDO:0004643 subclass +MONDO:0004600 monocytic leukemia MONDO MONDO:0005059 subclass MONDO:0004600 monocytic leukemia SCTID SCTID:188744006 one_to_one MONDO:0004601 ulcer of lower limbs DOID DOID:8529 one_to_one MONDO:0004601 ulcer of lower limbs EFO EFO:0007068 one_to_one @@ -23201,7 +23318,7 @@ MONDO:0004603 collagenopathy GO GO:0005581 disease_has_basis_in_dysfunction_of MONDO:0004603 collagenopathy MONDO MONDO:0000001,MONDO:0003900,MONDO:0044971 subclass MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance DOID DOID:8543 one_to_one MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance ICD10 ICD10:C81.4 inexact -MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance ICD9 ICD9:201.4 inexact +MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance ICD9 ICD9:201.4 one_to_one MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance ICDO ICDO:9651/3 one_to_one MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance MONDO MONDO:0009348 subclass MONDO:0004604 Hodgkin's lymphoma, lymphocytic-histiocytic predominance NCIT NCIT:C35899,NCIT:C35903,NCIT:C39721 has_finding @@ -23321,7 +23438,7 @@ MONDO:0004619 measles UMLS UMLS:C0025007 one_to_one MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion COHD COHD:4041798 one_to_one MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion DOID DOID:8628 one_to_one MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion ICD10 ICD10:C81.3 inexact -MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion ICD9 ICD9:201.7 inexact +MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion ICD9 ICD9:201.7 one_to_one MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion MONDO MONDO:0004952 subclass MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion NCIT NCIT:C9125 one_to_one MONDO:0004620 Hodgkin's lymphoma, lymphocytic depletion ONCOTREE ONCOTREE:LDCHL one_to_one @@ -23382,8 +23499,8 @@ MONDO:0004628 gastroduodenitis UMLS UMLS:C0267166 one_to_one MONDO:0004629 subacute delirium COHD COHD:379779 one_to_one MONDO:0004629 subacute delirium DOID DOID:8645 one_to_one MONDO:0004629 subacute delirium ICD9 ICD9:293.1 one_to_one -MONDO:0004629 subacute delirium MESH MESH:D003693 one_to_one -MONDO:0004629 subacute delirium MONDO MONDO:0004630 subclass +MONDO:0004629 subacute delirium MONDO MONDO:0004630 excluded_subClassOf +MONDO:0004629 subacute delirium MONDO MONDO:0045057 subclass MONDO:0004629 subacute delirium SCTID SCTID:191507002 one_to_one MONDO:0004630 substance-induced psychosis DOID DOID:8646 one_to_one MONDO:0004630 substance-induced psychosis ICD9 ICD9:293.89 one_to_one @@ -23398,18 +23515,10 @@ MONDO:0004631 tongue cancer MONDO MONDO:0000649,MONDO:0004992,MONDO:0005515,MOND MONDO:0004631 tongue cancer NCIT NCIT:C9345 one_to_one MONDO:0004631 tongue cancer SCTID SCTID:363360003 one_to_one MONDO:0004631 tongue cancer UBERON UBERON:0001723 disease_has_location -MONDO:0004632 Hodgkin's granuloma COHD COHD:4041797 one_to_one -MONDO:0004632 Hodgkin's granuloma DOID DOID:8651 one_to_one -MONDO:0004632 Hodgkin's granuloma ICD10 ICD10:C81,ICD10:C81.0,ICD10:C81.2,ICD10:C81.3,ICD10:C81.4,ICD10:C81.9 inexact -MONDO:0004632 Hodgkin's granuloma ICD9 ICD9:201,ICD9:201.0,ICD9:201.1,ICD9:201.2,ICD9:201.4,ICD9:201.6,ICD9:201.7,ICD9:201.9 inexact -MONDO:0004632 Hodgkin's granuloma ICDO ICDO:9661/3 one_to_one -MONDO:0004632 Hodgkin's granuloma MONDO MONDO:0004952 subclass -MONDO:0004632 Hodgkin's granuloma NCIT NCIT:C6914 one_to_one -MONDO:0004632 Hodgkin's granuloma SCTID SCTID:118602004 one_to_one MONDO:0004633 Hodgkin's lymphoma, mixed cellularity COHD COHD:4038843 one_to_one MONDO:0004633 Hodgkin's lymphoma, mixed cellularity DOID DOID:8654 one_to_one MONDO:0004633 Hodgkin's lymphoma, mixed cellularity ICD10 ICD10:C81.2 inexact -MONDO:0004633 Hodgkin's lymphoma, mixed cellularity ICD9 ICD9:201.6 inexact +MONDO:0004633 Hodgkin's lymphoma, mixed cellularity ICD9 ICD9:201.6 one_to_one MONDO:0004633 Hodgkin's lymphoma, mixed cellularity ICDO ICDO:9652/3 one_to_one MONDO:0004633 Hodgkin's lymphoma, mixed cellularity MONDO MONDO:0009348 subclass MONDO:0004633 Hodgkin's lymphoma, mixed cellularity NCIT NCIT:C35980 has_finding @@ -23459,6 +23568,7 @@ MONDO:0004639 perinatal necrotizing enterocolitis MONDO MONDO:0005313 subclass MONDO:0004639 perinatal necrotizing enterocolitis SCTID SCTID:397729009 one_to_one MONDO:0004640 alcoholic gastritis COHD COHD:195300 one_to_one MONDO:0004640 alcoholic gastritis DOID DOID:8680 one_to_one +MONDO:0004640 alcoholic gastritis ECTO ECTO:0001082 realized_in_response_to MONDO:0004640 alcoholic gastritis ICD10 ICD10:K29.2 one_to_one MONDO:0004640 alcoholic gastritis ICD9 ICD9:535.3,ICD9:535.30 inexact MONDO:0004640 alcoholic gastritis MONDO MONDO:0004966 subclass @@ -24196,7 +24306,7 @@ MONDO:0004745 priapism DOID DOID:9286 one_to_one MONDO:0004745 priapism ICD10 ICD10:N48.3,ICD10:N48.30 inexact MONDO:0004745 priapism ICD9 ICD9:607.3 one_to_one MONDO:0004745 priapism MESH MESH:D011317 one_to_one -MONDO:0004745 priapism MONDO MONDO:0005294 subclass +MONDO:0004745 priapism MONDO MONDO:0005294,MONDO:0005362 subclass MONDO:0004745 priapism SCTID SCTID:6273006 one_to_one MONDO:0004745 priapism UMLS UMLS:C0033117 one_to_one MONDO:0004746 myopathy of extraocular muscle DOID DOID:929 one_to_one @@ -24220,7 +24330,7 @@ MONDO:0004748 lip disease DOID DOID:9297 one_to_one MONDO:0004748 lip disease ICD10 ICD10:K13.0 inexact MONDO:0004748 lip disease ICD9 ICD9:528.5 one_to_one MONDO:0004748 lip disease MESH MESH:D008047 one_to_one -MONDO:0004748 lip disease MONDO MONDO:0000001,MONDO:0002051,MONDO:0006858,MONDO:0045027 subclass +MONDO:0004748 lip disease MONDO MONDO:0000001,MONDO:0002051,MONDO:0006858 subclass MONDO:0004748 lip disease NCIT NCIT:C26818 one_to_one MONDO:0004748 lip disease SCTID SCTID:90678009 one_to_one MONDO:0004748 lip disease UBERON UBERON:0001833 disease_has_location @@ -24497,6 +24607,7 @@ MONDO:0004789 cholangitis UBERON UBERON:0001173 disease_has_inflammation_site MONDO:0004789 cholangitis UMLS UMLS:C0008311 one_to_one MONDO:0004790 fatty liver disease DOID DOID:9452 one_to_one MONDO:0004790 fatty liver disease EFO EFO:0003934 one_to_one +MONDO:0004790 fatty liver disease GO GO:0071830 disease_has_basis_in_disruption_of MONDO:0004790 fatty liver disease HP HP:0001397 disease_has_feature MONDO:0004790 fatty liver disease ICD10 ICD10:K70.0 one_to_one MONDO:0004790 fatty liver disease ICD9 ICD9:571.0,ICD9:571.8 inexact @@ -24596,7 +24707,7 @@ MONDO:0004808 benign mammary dysplasia COHD COHD:78200 one_to_one MONDO:0004808 benign mammary dysplasia DOID DOID:9504 one_to_one MONDO:0004808 benign mammary dysplasia ICD9 ICD9:610.8,ICD9:610.9 inexact MONDO:0004808 benign mammary dysplasia MONDO MONDO:0000620 excluded_subClassOf -MONDO:0004808 benign mammary dysplasia MONDO MONDO:0002051,MONDO:0002657,MONDO:0045027 subclass +MONDO:0004808 benign mammary dysplasia MONDO MONDO:0002051,MONDO:0002657 subclass MONDO:0004808 benign mammary dysplasia SCTID SCTID:57993004 one_to_one MONDO:0004808 benign mammary dysplasia UBERON UBERON:0001911 disease_has_location MONDO:0004810 acute ethmoiditis COHD COHD:141056 one_to_one @@ -25030,7 +25141,8 @@ MONDO:0004877 transient neonatal thrombocytopenia DOID DOID:9771 one_to_one MONDO:0004877 transient neonatal thrombocytopenia HP HP:0025153 has_modifier MONDO:0004877 transient neonatal thrombocytopenia ICD10 ICD10:P61.0 inexact MONDO:0004877 transient neonatal thrombocytopenia ICD9 ICD9:776.1 one_to_one -MONDO:0004877 transient neonatal thrombocytopenia MONDO MONDO:0001241,MONDO:0024277 subclass +MONDO:0004877 transient neonatal thrombocytopenia MONDO MONDO:0001241 excluded_subClassOf +MONDO:0004877 transient neonatal thrombocytopenia MONDO MONDO:0024277 subclass MONDO:0004877 transient neonatal thrombocytopenia SCTID SCTID:23205009 one_to_one MONDO:0004877 transient neonatal thrombocytopenia UMLS UMLS:C0158991 one_to_one MONDO:0004878 female breast upper-outer quadrant cancer DOID DOID:9773 one_to_one @@ -25096,14 +25208,16 @@ MONDO:0004888 partial circumpapillary choroid dystrophy ICD9 ICD9:363.51 one_to_ MONDO:0004888 partial circumpapillary choroid dystrophy MONDO MONDO:0004883 subclass MONDO:0004888 partial circumpapillary choroid dystrophy SCTID SCTID:193466003 one_to_one MONDO:0004888 partial circumpapillary choroid dystrophy UMLS UMLS:C0154895 one_to_one -MONDO:0004889 central gyrate choroidal dystrophy DOID DOID:9820 one_to_one -MONDO:0004889 central gyrate choroidal dystrophy ICD9 ICD9:363.54 inexact -MONDO:0004889 central gyrate choroidal dystrophy MONDO MONDO:0004890 subclass -MONDO:0004889 central gyrate choroidal dystrophy SCTID SCTID:392049002 one_to_one -MONDO:0004889 central gyrate choroidal dystrophy UMLS UMLS:C0154898 one_to_one +MONDO:0004889 total central choroidal atrophy DOID DOID:9820 one_to_one +MONDO:0004889 total central choroidal atrophy ICD9 ICD9:363.54 inexact +MONDO:0004889 total central choroidal atrophy MONDO MONDO:0004890 excluded_subClassOf +MONDO:0004889 total central choroidal atrophy MONDO MONDO:0008982,MONDO:0010557 subclass +MONDO:0004889 total central choroidal atrophy SCTID SCTID:392049002 one_to_one +MONDO:0004889 total central choroidal atrophy UMLS UMLS:C0154898 one_to_one MONDO:0004890 partial central choroid dystrophy DOID DOID:9822 one_to_one MONDO:0004890 partial central choroid dystrophy ICD9 ICD9:363.53 one_to_one -MONDO:0004890 partial central choroid dystrophy MONDO MONDO:0004883 subclass +MONDO:0004890 partial central choroid dystrophy MONDO MONDO:0004883 excluded_subClassOf +MONDO:0004890 partial central choroid dystrophy MONDO MONDO:0008982 subclass MONDO:0004890 partial central choroid dystrophy SCTID SCTID:193468002 one_to_one MONDO:0004890 partial central choroid dystrophy UMLS UMLS:C0339427 one_to_one MONDO:0004891 hyperopia COHD COHD:376415 one_to_one @@ -25206,6 +25320,7 @@ MONDO:0004905 intestinal disaccharidase deficiency DOID DOID:9868 one_to_one MONDO:0004905 intestinal disaccharidase deficiency EFO EFO:1000060 one_to_one MONDO:0004905 intestinal disaccharidase deficiency GO GO:0005984 disease_has_basis_in_disruption_of MONDO:0004905 intestinal disaccharidase deficiency ICD9 ICD9:271.3 inexact +MONDO:0004905 intestinal disaccharidase deficiency MONDO MONDO:0019214 excluded_subClassOf MONDO:0004905 intestinal disaccharidase deficiency MONDO MONDO:0000001,MONDO:0015188,MONDO:0037792 subclass MONDO:0004905 intestinal disaccharidase deficiency NCIT NCIT:C34731 one_to_one MONDO:0004905 intestinal disaccharidase deficiency SCTID SCTID:22169002 one_to_one @@ -25250,18 +25365,9 @@ MONDO:0004914 median arcuate ligament syndrome DOID DOID:9892 one_to_one MONDO:0004914 median arcuate ligament syndrome GARD GARD:0012308 one_to_one MONDO:0004914 median arcuate ligament syndrome ICD10 ICD10:I77.4 inexact MONDO:0004914 median arcuate ligament syndrome ICD9 ICD9:447.4 one_to_one -MONDO:0004914 median arcuate ligament syndrome MONDO MONDO:0000473,MONDO:0002254,MONDO:0005728,MONDO:0043218 subclass +MONDO:0004914 median arcuate ligament syndrome MONDO MONDO:0000473,MONDO:0002254,MONDO:0005728,MONDO:0043218,MONDO:0045044 subclass MONDO:0004914 median arcuate ligament syndrome SCTID SCTID:9250002 one_to_one MONDO:0004914 median arcuate ligament syndrome UBERON UBERON:0015215 disease_has_location -MONDO:0004915 periodontosis DOID DOID:9893 one_to_one -MONDO:0004915 periodontosis ICD10 ICD10:K05.4 one_to_one -MONDO:0004915 periodontosis ICD9 ICD9:523.5 inexact -MONDO:0004915 periodontosis MONDO MONDO:0006999 subclass -MONDO:0004915 periodontosis UMLS UMLS:C0600298 one_to_one -MONDO:0004916 villonodular synovitis DOID DOID:9898 one_to_one -MONDO:0004916 villonodular synovitis ICD10 ICD10:M12.20 one_to_one -MONDO:0004916 villonodular synovitis ICD9 ICD9:719.2,ICD9:719.20 inexact -MONDO:0004916 villonodular synovitis MONDO MONDO:0006816 subclass MONDO:0004917 internal hordeolum COHD COHD:377560 one_to_one MONDO:0004917 internal hordeolum DOID DOID:9908 one_to_one MONDO:0004917 internal hordeolum ICD10 ICD10:H00.02 one_to_one @@ -25327,7 +25433,8 @@ MONDO:0004926 dacryocystitis DOID DOID:9938 one_to_one MONDO:0004926 dacryocystitis ICD10 ICD10:H04.30 one_to_one MONDO:0004926 dacryocystitis ICD9 ICD9:375.30 one_to_one MONDO:0004926 dacryocystitis MESH MESH:D003607 one_to_one -MONDO:0004926 dacryocystitis MONDO MONDO:0000001,MONDO:0004055,MONDO:0021166,MONDO:0044984 subclass +MONDO:0004926 dacryocystitis MONDO MONDO:0004055 excluded_subClassOf +MONDO:0004926 dacryocystitis MONDO MONDO:0000001,MONDO:0021166,MONDO:0044984 subclass MONDO:0004926 dacryocystitis NCIT NCIT:C34521 one_to_one MONDO:0004926 dacryocystitis SCTID SCTID:85777005 one_to_one MONDO:0004926 dacryocystitis UBERON UBERON:0001351 disease_has_inflammation_site @@ -25397,13 +25504,13 @@ MONDO:0004936 uterine inversion ICD9 ICD9:665.2 one_to_one MONDO:0004936 uterine inversion MESH MESH:D019687 one_to_one MONDO:0004936 uterine inversion MONDO MONDO:0002654 subclass MONDO:0004936 uterine inversion SCTID SCTID:27215002 one_to_one -MONDO:0004937 hypervitaminosis d COHD COHD:435522 one_to_one -MONDO:0004937 hypervitaminosis d DOID DOID:9971 one_to_one -MONDO:0004937 hypervitaminosis d ICD10 ICD10:E67.3 one_to_one -MONDO:0004937 hypervitaminosis d ICD9 ICD9:278.4 one_to_one -MONDO:0004937 hypervitaminosis d MONDO MONDO:0003916 subclass -MONDO:0004937 hypervitaminosis d SCTID SCTID:27712000 one_to_one -MONDO:0004937 hypervitaminosis d UMLS UMLS:C1442839 one_to_one +MONDO:0004937 hypervitaminosis D COHD COHD:435522 one_to_one +MONDO:0004937 hypervitaminosis D DOID DOID:9971 one_to_one +MONDO:0004937 hypervitaminosis D ICD10 ICD10:E67.3 one_to_one +MONDO:0004937 hypervitaminosis D ICD9 ICD9:278.4 one_to_one +MONDO:0004937 hypervitaminosis D MONDO MONDO:0003916 subclass +MONDO:0004937 hypervitaminosis D SCTID SCTID:27712000 one_to_one +MONDO:0004937 hypervitaminosis D UMLS UMLS:C1442839 one_to_one MONDO:0004938 substance dependence DOID DOID:9973 one_to_one MONDO:0004938 substance dependence ICD9 ICD9:304.60 inexact MONDO:0004938 substance dependence MONDO MONDO:0002494 subclass @@ -25456,7 +25563,8 @@ MONDO:0004946 hypoglycemia DOID DOID:9993 one_to_one MONDO:0004946 hypoglycemia ICD10 ICD10:E16.2 one_to_one MONDO:0004946 hypoglycemia ICD9 ICD9:251.1,ICD9:251.2 inexact MONDO:0004946 hypoglycemia MESH MESH:D007003 one_to_one -MONDO:0004946 hypoglycemia MONDO MONDO:0001933,MONDO:0002908 subclass +MONDO:0004946 hypoglycemia MONDO MONDO:0001933 excluded_subClassOf +MONDO:0004946 hypoglycemia MONDO MONDO:0002908 subclass MONDO:0004946 hypoglycemia NCIT NCIT:C3126 one_to_one MONDO:0004946 hypoglycemia SCTID SCTID:302866003 one_to_one MONDO:0004946 hypoglycemia UMLS UMLS:C0020615 one_to_one @@ -26044,6 +26152,7 @@ MONDO:0005016 diabetic nephropathy NCIT NCIT:C84417 one_to_one MONDO:0005016 diabetic nephropathy SCTID SCTID:127013003 one_to_one MONDO:0005017 diffuse gastric adenocarcinoma DOID DOID:6217 one_to_one MONDO:0005017 diffuse gastric adenocarcinoma EFO EFO:0000402 one_to_one +MONDO:0005017 diffuse gastric adenocarcinoma MONDO MONDO:0002839 disease_has_feature MONDO:0005017 diffuse gastric adenocarcinoma MONDO MONDO:0005036,MONDO:0021652 subclass MONDO:0005017 diffuse gastric adenocarcinoma NCIT NCIT:C9159 one_to_one MONDO:0005017 diffuse gastric adenocarcinoma ONCOTREE ONCOTREE:DSTAD one_to_one @@ -26536,15 +26645,17 @@ MONDO:0005075 thyroid gland papillary carcinoma SCTID SCTID:255029007 one_to_one MONDO:0005075 thyroid gland papillary carcinoma UBERON UBERON:0002046 disease_has_location MONDO:0005075 thyroid gland papillary carcinoma UMLS UMLS:C0238463 one_to_one MONDO:0005076 periodontitis COHD COHD:141608 one_to_one -MONDO:0005076 periodontitis DOID DOID:824 one_to_one +MONDO:0005076 periodontitis DOID DOID:824,DOID:9893 inexact MONDO:0005076 periodontitis EFO EFO:0000649 one_to_one -MONDO:0005076 periodontitis ICD10 ICD10:K05.3 inexact +MONDO:0005076 periodontitis ICD10 ICD10:K05.3,ICD10:K05.4 inexact +MONDO:0005076 periodontitis ICD9 ICD9:523.5 inexact MONDO:0005076 periodontitis MESH MESH:D010518 one_to_one +MONDO:0005076 periodontitis MONDO MONDO:0006999 excluded_subClassOf MONDO:0005076 periodontitis MONDO MONDO:0000001,MONDO:0002635,MONDO:0021166 subclass MONDO:0005076 periodontitis NCIT NCIT:C34918 one_to_one MONDO:0005076 periodontitis SCTID SCTID:41565005 one_to_one MONDO:0005076 periodontitis UBERON UBERON:0001758 disease_has_inflammation_site -MONDO:0005076 periodontitis UMLS UMLS:C0031099 one_to_one +MONDO:0005076 periodontitis UMLS UMLS:C0031099,UMLS:C0600298 inexact MONDO:0005077 pertussis COHD COHD:257778 one_to_one MONDO:0005077 pertussis DOID DOID:1116 one_to_one MONDO:0005077 pertussis EFO EFO:0000650 one_to_one @@ -26554,7 +26665,8 @@ MONDO:0005077 pertussis ICD10 ICD10:A37.0,ICD10:A37.1,ICD10:A37.8,ICD10:A37.9 in MONDO:0005077 pertussis ICD9 ICD9:033,ICD9:033.0,ICD9:033.9 inexact MONDO:0005077 pertussis KEGG KEGG:05133 one_to_one MONDO:0005077 pertussis MESH MESH:D014917 one_to_one -MONDO:0005077 pertussis MONDO MONDO:0000001,MONDO:0000315,MONDO:0015575,MONDO:0020000,MONDO:0037872 subclass +MONDO:0005077 pertussis MONDO MONDO:0000315 excluded_subClassOf +MONDO:0005077 pertussis MONDO MONDO:0000001,MONDO:0015575,MONDO:0020000,MONDO:0037872 subclass MONDO:0005077 pertussis MedDRA MedDRA:10034738,MedDRA:10047974 inexact MONDO:0005077 pertussis NCBITaxon NCBITaxon:520 realized_in_response_to_stimulus MONDO:0005077 pertussis NCIT NCIT:C85231 one_to_one @@ -26589,7 +26701,7 @@ MONDO:0005081 preeclampsia EFO EFO:0000668 one_to_one MONDO:0005081 preeclampsia ICD10 ICD10:O14,ICD10:O14.0,ICD10:O14.1,ICD10:O14.2,ICD10:O14.9,ICD10:O14.90 inexact MONDO:0005081 preeclampsia ICD9 ICD9:642.40,ICD9:642.41,ICD9:642.42,ICD9:642.43,ICD9:642.44 inexact MONDO:0005081 preeclampsia MESH MESH:D011225 one_to_one -MONDO:0005081 preeclampsia MONDO MONDO:0015582,MONDO:0019048,MONDO:0024664 subclass +MONDO:0005081 preeclampsia MONDO MONDO:0015582,MONDO:0019048,MONDO:0045048 subclass MONDO:0005081 preeclampsia MedDRA MedDRA:10036485 one_to_one MONDO:0005081 preeclampsia NCIT NCIT:C85021 one_to_one MONDO:0005081 preeclampsia OMIMPS OMIMPS:189800 one_to_one @@ -26697,7 +26809,7 @@ MONDO:0005093 skin disease DOID DOID:37 one_to_one MONDO:0005093 skin disease EFO EFO:0000701 one_to_one MONDO:0005093 skin disease ICD9 ICD9:702,ICD9:702.8,ICD9:709.8 inexact MONDO:0005093 skin disease MESH MESH:D012871 one_to_one -MONDO:0005093 skin disease MONDO MONDO:0000001,MONDO:0002051,MONDO:0045027 subclass +MONDO:0005093 skin disease MONDO MONDO:0000001,MONDO:0002051 subclass MONDO:0005093 skin disease NCIT NCIT:C3371 one_to_one MONDO:0005093 skin disease SCTID SCTID:95320005 one_to_one MONDO:0005093 skin disease UBERON UBERON:0000014 disease_has_location @@ -27250,11 +27362,12 @@ MONDO:0005164 fibrosarcoma (disease) UMLS UMLS:C0016057 one_to_one MONDO:0005165 benign neoplasm DOID DOID:0060072,DOID:0060084,DOID:0060085 inexact MONDO:0005165 benign neoplasm EFO EFO:0002422 one_to_one MONDO:0005165 benign neoplasm ICD10 ICD10:D10.D36 one_to_one -MONDO:0005165 benign neoplasm ICD9 ICD9:210-229.99 one_to_one +MONDO:0005165 benign neoplasm ICD9 ICD9:210-229.99,ICD9:229.8,ICD9:229.9 inexact MONDO:0005165 benign neoplasm ICDO ICDO:8000/0 one_to_one MONDO:0005165 benign neoplasm MONDO MONDO:0005070 subclass MONDO:0005165 benign neoplasm NCIT NCIT:C3677 one_to_one MONDO:0005165 benign neoplasm PATO PATO:0002096 has_modifier +MONDO:0005165 benign neoplasm SCTID SCTID:20376005 one_to_one MONDO:0005166 osteoma (disease) EFO EFO:0002423 one_to_one MONDO:0005166 osteoma (disease) HP HP:0100246 one_to_one MONDO:0005166 osteoma (disease) ICDO ICDO:9180/0 one_to_one @@ -27601,7 +27714,7 @@ MONDO:0005219 breast fibrocystic disease ICD10 ICD10:N60,ICD10:N60.1 inexact MONDO:0005219 breast fibrocystic disease ICD9 ICD9:610.1 one_to_one MONDO:0005219 breast fibrocystic disease MESH MESH:D005348 one_to_one MONDO:0005219 breast fibrocystic disease MONDO MONDO:0000620 excluded_subClassOf -MONDO:0005219 breast fibrocystic disease MONDO MONDO:0002051,MONDO:0045027 subclass +MONDO:0005219 breast fibrocystic disease MONDO MONDO:0002051 subclass MONDO:0005219 breast fibrocystic disease NCIT NCIT:C3044,NCIT:C41456 has_finding MONDO:0005219 breast fibrocystic disease NCIT NCIT:C3039 one_to_one MONDO:0005219 breast fibrocystic disease UBERON UBERON:0001911 disease_has_location @@ -28184,7 +28297,7 @@ MONDO:0005306 ankylosing spondylitis EFO EFO:0003898 one_to_one MONDO:0005306 ankylosing spondylitis ICD10 ICD10:M45 one_to_one MONDO:0005306 ankylosing spondylitis ICD9 ICD9:720.0 one_to_one MONDO:0005306 ankylosing spondylitis MESH MESH:D013167 one_to_one -MONDO:0005306 ankylosing spondylitis MONDO MONDO:0003937,MONDO:0008383,MONDO:0037847 subclass +MONDO:0005306 ankylosing spondylitis MONDO MONDO:0003937,MONDO:0005095,MONDO:0008383,MONDO:0037847 subclass MONDO:0005306 ankylosing spondylitis NCIT NCIT:C84564 one_to_one MONDO:0005306 ankylosing spondylitis SCTID SCTID:9631008 one_to_one MONDO:0005306 ankylosing spondylitis UBERON UBERON:0001468 disease_has_inflammation_site @@ -28324,8 +28437,6 @@ MONDO:0005328 eye disease NCIT NCIT:C26767 one_to_one MONDO:0005328 eye disease SCTID SCTID:371405004 one_to_one MONDO:0005328 eye disease UBERON UBERON:0000019,UBERON:0010230 disease_has_location MONDO:0005328 eye disease UMLS UMLS:C0015397 one_to_one -MONDO:0005332 growth hormone-secreting pituitary adenoma EFO EFO:0004125 one_to_one -MONDO:0005332 growth hormone-secreting pituitary adenoma MONDO MONDO:0004972 subclass MONDO:0005333 hyperthyroxinemia DOID DOID:2855 one_to_one MONDO:0005333 hyperthyroxinemia EFO EFO:0004127 one_to_one MONDO:0005333 hyperthyroxinemia MESH MESH:D006981 one_to_one @@ -28418,7 +28529,7 @@ MONDO:0005345 hypospadias (disease) HP HP:0000047 one_to_one MONDO:0005345 hypospadias (disease) ICD10 ICD10:Q54,ICD10:Q54.0,ICD10:Q54.1,ICD10:Q54.2,ICD10:Q54.3,ICD10:Q54.4,ICD10:Q54.8,ICD10:Q54.9 inexact MONDO:0005345 hypospadias (disease) ICD9 ICD9:752.61 one_to_one MONDO:0005345 hypospadias (disease) MESH MESH:D007021 one_to_one -MONDO:0005345 hypospadias (disease) MONDO MONDO:0000839,MONDO:0015511,MONDO:0015933,MONDO:0015960 subclass +MONDO:0005345 hypospadias (disease) MONDO MONDO:0015511,MONDO:0015933,MONDO:0015960 subclass MONDO:0005345 hypospadias (disease) NCIT NCIT:C40341 one_to_one MONDO:0005345 hypospadias (disease) OMIMPS OMIMPS:300633 one_to_one MONDO:0005345 hypospadias (disease) Orphanet Orphanet:440 one_to_one @@ -29286,7 +29397,8 @@ MONDO:0005493 delayed encephalopathy after acute carbon monoxide poisoning MONDO MONDO:0005494 triple-negative breast carcinoma DOID DOID:0060081 one_to_one MONDO:0005494 triple-negative breast carcinoma EFO EFO:0005537 one_to_one MONDO:0005494 triple-negative breast carcinoma MESH MESH:D064726 one_to_one -MONDO:0005494 triple-negative breast carcinoma MONDO MONDO:0006116 subclass +MONDO:0005494 triple-negative breast carcinoma MONDO MONDO:0000616,MONDO:0000618,MONDO:0004989 subclass +MONDO:0005494 triple-negative breast carcinoma NCIT NCIT:C15493,NCIT:C15497,NCIT:C68749 disease_has_feature MONDO:0005494 triple-negative breast carcinoma NCIT NCIT:C105907,NCIT:C15493,NCIT:C15497,NCIT:C36104,NCIT:C38328,NCIT:C68749 has_finding MONDO:0005494 triple-negative breast carcinoma NCIT NCIT:C71732 one_to_one MONDO:0005494 triple-negative breast carcinoma SCTID SCTID:706970001 one_to_one @@ -29681,7 +29793,7 @@ MONDO:0005554 rheumatologic disorder EFO EFO:0005755 one_to_one MONDO:0005554 rheumatologic disorder ICD9 ICD9:729.0 inexact MONDO:0005554 rheumatologic disorder MESH MESH:D012216 one_to_one MONDO:0005554 rheumatologic disorder MONDO MONDO:0000589,MONDO:0005046 excluded_subClassOf -MONDO:0005554 rheumatologic disorder MONDO MONDO:0003900 subclass +MONDO:0005554 rheumatologic disorder MONDO MONDO:0002081,MONDO:0003900 subclass MONDO:0005554 rheumatologic disorder NCIT NCIT:C27204 one_to_one MONDO:0005554 rheumatologic disorder SCTID SCTID:396332003 one_to_one MONDO:0005554 rheumatologic disorder UMLS UMLS:C0035435 one_to_one @@ -30061,7 +30173,8 @@ MONDO:0005613 mesonephric adenocarcinoma MONDO MONDO:0004970 subclass MONDO:0005613 mesonephric adenocarcinoma NCIT NCIT:C4072 one_to_one MONDO:0005614 pancreatic adenosquamous carcinoma DOID DOID:5637 one_to_one MONDO:0005614 pancreatic adenosquamous carcinoma EFO EFO:0006732 one_to_one -MONDO:0005614 pancreatic adenosquamous carcinoma MONDO MONDO:0005184,MONDO:0006074,MONDO:0018521 subclass +MONDO:0005614 pancreatic adenosquamous carcinoma MONDO MONDO:0005184 excluded_subClassOf +MONDO:0005614 pancreatic adenosquamous carcinoma MONDO MONDO:0006074,MONDO:0018521 subclass MONDO:0005614 pancreatic adenosquamous carcinoma NCIT NCIT:C26682,NCIT:C3143,NCIT:C3344,NCIT:C3445 has_finding MONDO:0005614 pancreatic adenosquamous carcinoma NCIT NCIT:C5721 one_to_one MONDO:0005614 pancreatic adenosquamous carcinoma ONCOTREE ONCOTREE:PAASC one_to_one @@ -30121,7 +30234,7 @@ MONDO:0005620 cerebral amyloid angiopathy GARD GARD:0010266 one_to_one MONDO:0005620 cerebral amyloid angiopathy ICD10 ICD10:E85.4+,ICD10:I68.0,ICD10:I68.0* inexact MONDO:0005620 cerebral amyloid angiopathy ICD9 ICD9:277.39 inexact MONDO:0005620 cerebral amyloid angiopathy MESH MESH:D016657 one_to_one -MONDO:0005620 cerebral amyloid angiopathy MONDO MONDO:0011057,MONDO:0016517,MONDO:0018634,MONDO:0018787,MONDO:0020142,MONDO:0020144 subclass +MONDO:0005620 cerebral amyloid angiopathy MONDO MONDO:0002320,MONDO:0011057,MONDO:0016517,MONDO:0018634,MONDO:0018787,MONDO:0020142,MONDO:0020144 subclass MONDO:0005620 cerebral amyloid angiopathy NCIT NCIT:C84625 one_to_one MONDO:0005620 cerebral amyloid angiopathy Orphanet Orphanet:85458 one_to_one MONDO:0005620 cerebral amyloid angiopathy SCTID SCTID:230724001 one_to_one @@ -30806,7 +30919,7 @@ MONDO:0005711 congenital diaphragmatic hernia DOID DOID:3827 one_to_one MONDO:0005711 congenital diaphragmatic hernia EFO EFO:0007216 one_to_one MONDO:0005711 congenital diaphragmatic hernia GARD GARD:0001481 one_to_one MONDO:0005711 congenital diaphragmatic hernia ICD10 ICD10:K44,ICD10:K44.9,ICD10:Q79.0 inexact -MONDO:0005711 congenital diaphragmatic hernia MONDO MONDO:0005728,MONDO:0015118,MONDO:0015215,MONDO:0015879,MONDO:0020126 subclass +MONDO:0005711 congenital diaphragmatic hernia MONDO MONDO:0002320,MONDO:0005728,MONDO:0015118,MONDO:0015215,MONDO:0015879,MONDO:0020126 subclass MONDO:0005711 congenital diaphragmatic hernia MedDRA MedDRA:10010439 one_to_one MONDO:0005711 congenital diaphragmatic hernia NCIT NCIT:C98893 one_to_one MONDO:0005711 congenital diaphragmatic hernia Orphanet Orphanet:2140 one_to_one @@ -30842,7 +30955,7 @@ MONDO:0005715 congenital toxoplasmosis GARD GARD:0010326 one_to_one MONDO:0005715 congenital toxoplasmosis ICD10 ICD10:P37.1 one_to_one MONDO:0005715 congenital toxoplasmosis ICD9 ICD9:771.2 inexact MONDO:0005715 congenital toxoplasmosis MESH MESH:D014125 one_to_one -MONDO:0005715 congenital toxoplasmosis MONDO MONDO:0005989,MONDO:0015577,MONDO:0015659,MONDO:0016511,MONDO:0020008 subclass +MONDO:0005715 congenital toxoplasmosis MONDO MONDO:0002320,MONDO:0005989,MONDO:0015577,MONDO:0015659,MONDO:0016511,MONDO:0020008 subclass MONDO:0005715 congenital toxoplasmosis MedDRA MedDRA:10010652 one_to_one MONDO:0005715 congenital toxoplasmosis NCIT NCIT:C50503 one_to_one MONDO:0005715 congenital toxoplasmosis Orphanet Orphanet:858 one_to_one @@ -30909,7 +31022,7 @@ MONDO:0005724 cryptococcosis GARD GARD:0006218 one_to_one MONDO:0005724 cryptococcosis ICD10 ICD10:B45,ICD10:B45.0,ICD10:B45.1,ICD10:B45.2,ICD10:B45.3,ICD10:B45.7,ICD10:B45.8,ICD10:B45.9 inexact MONDO:0005724 cryptococcosis ICD9 ICD9:117.5 one_to_one MONDO:0005724 cryptococcosis MESH MESH:D003453 one_to_one -MONDO:0005724 cryptococcosis MONDO MONDO:0000001,MONDO:0002312,MONDO:0015577,MONDO:0015578,MONDO:0020008 subclass +MONDO:0005724 cryptococcosis MONDO MONDO:0000001,MONDO:0002312,MONDO:0015577,MONDO:0015578 subclass MONDO:0005724 cryptococcosis MedDRA MedDRA:10011490 one_to_one MONDO:0005724 cryptococcosis NCBITaxon NCBITaxon:5207,NCBITaxon:552467 realized_in_response_to_stimulus MONDO:0005724 cryptococcosis NCIT NCIT:C2967 one_to_one @@ -31216,7 +31329,8 @@ MONDO:0005768 gastrointestinal tuberculosis EFO EFO:0007280 one_to_one MONDO:0005768 gastrointestinal tuberculosis HP HP:0001824 disease_has_feature MONDO:0005768 gastrointestinal tuberculosis ICD9 ICD9:014.80,ICD9:014.81,ICD9:014.86 inexact MONDO:0005768 gastrointestinal tuberculosis MESH MESH:D014385 one_to_one -MONDO:0005768 gastrointestinal tuberculosis MONDO MONDO:0000369,MONDO:0018076,MONDO:0019997,MONDO:0043424 subclass +MONDO:0005768 gastrointestinal tuberculosis MONDO MONDO:0000369 excluded_subClassOf +MONDO:0005768 gastrointestinal tuberculosis MONDO MONDO:0018076,MONDO:0019997,MONDO:0021166,MONDO:0043424 subclass MONDO:0005768 gastrointestinal tuberculosis SCTID SCTID:186225008 one_to_one MONDO:0005768 gastrointestinal tuberculosis UBERON UBERON:0005409 disease_has_inflammation_site MONDO:0005768 gastrointestinal tuberculosis UMLS UMLS:C0041312,UMLS:C0152717 inexact @@ -31347,7 +31461,7 @@ MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome EFO EFO:0007299 o MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome HP HP:0000083,HP:0000093,HP:0000967 disease_has_feature MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome ICD10 ICD10:A98.5 one_to_one MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome ICD9 ICD9:078.6 one_to_one -MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome MONDO MONDO:0000001,MONDO:0005780,MONDO:0024294 subclass +MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome MONDO MONDO:0000001,MONDO:0005780 subclass MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome NCBITaxon NCBITaxon:11598 realized_in_response_to_stimulus MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome NCIT NCIT:C84753 one_to_one MONDO:0005784 hantavirus hemorrhagic fever with renal syndrome SCTID SCTID:102455002 one_to_one @@ -31365,7 +31479,7 @@ MONDO:0005787 hepatic tuberculosis EFO EFO:0007302 one_to_one MONDO:0005787 hepatic tuberculosis HP HP:0000952 disease_has_feature MONDO:0005787 hepatic tuberculosis ICD9 ICD9:017.90 inexact MONDO:0005787 hepatic tuberculosis MESH MESH:D014386 one_to_one -MONDO:0005787 hepatic tuberculosis MONDO MONDO:0002251,MONDO:0005768,MONDO:0015507,MONDO:0018076,MONDO:0019043,MONDO:0024295 subclass +MONDO:0005787 hepatic tuberculosis MONDO MONDO:0000369,MONDO:0002251,MONDO:0005768,MONDO:0006743,MONDO:0015507,MONDO:0018076,MONDO:0019043,MONDO:0024295 subclass MONDO:0005787 hepatic tuberculosis SCTID SCTID:186273003 one_to_one MONDO:0005787 hepatic tuberculosis UBERON UBERON:0002107 disease_has_inflammation_site MONDO:0005787 hepatic tuberculosis UMLS UMLS:C0041313 one_to_one @@ -31444,7 +31558,7 @@ MONDO:0005800 hordeolum HP HP:0010606 disease_has_feature MONDO:0005800 hordeolum ICD10 ICD10:H00.01 inexact MONDO:0005800 hordeolum MESH MESH:D006726 one_to_one MONDO:0005800 hordeolum MONDO MONDO:0004785 disease_has_feature -MONDO:0005800 hordeolum MONDO MONDO:0004785,MONDO:0005545,MONDO:0015575,MONDO:0019043,MONDO:0020151,MONDO:0024295,MONDO:0043885 subclass +MONDO:0005800 hordeolum MONDO MONDO:0002320,MONDO:0004785,MONDO:0005545,MONDO:0015575,MONDO:0019043,MONDO:0020151,MONDO:0024295,MONDO:0043885 subclass MONDO:0005800 hordeolum NCIT NCIT:C118722 one_to_one MONDO:0005800 hordeolum SCTID SCTID:397513003 one_to_one MONDO:0005800 hordeolum UBERON UBERON:0013229 disease_has_location @@ -32701,8 +32815,9 @@ MONDO:0005967 splenic tuberculosis EFO EFO:0007492 one_to_one MONDO:0005967 splenic tuberculosis ICD10 ICD10:A18.85 one_to_one MONDO:0005967 splenic tuberculosis ICD9 ICD9:017.7 one_to_one MONDO:0005967 splenic tuberculosis MESH MESH:D014400 one_to_one -MONDO:0005967 splenic tuberculosis MONDO MONDO:0000369 subclass +MONDO:0005967 splenic tuberculosis MONDO MONDO:0002332,MONDO:0018076,MONDO:0020008,MONDO:0043424 subclass MONDO:0005967 splenic tuberculosis SCTID SCTID:28399005 one_to_one +MONDO:0005967 splenic tuberculosis UBERON UBERON:0002106 disease_has_location MONDO:0005967 splenic tuberculosis UMLS UMLS:C0041331 one_to_one MONDO:0005968 sporotrichosis COHD COHD:434859 one_to_one MONDO:0005968 sporotrichosis DOID DOID:14484 one_to_one @@ -32711,7 +32826,8 @@ MONDO:0005968 sporotrichosis GARD GARD:0007692 one_to_one MONDO:0005968 sporotrichosis ICD10 ICD10:B42,ICD10:B42.0,ICD10:B42.1,ICD10:B42.7,ICD10:B42.8,ICD10:B42.9 inexact MONDO:0005968 sporotrichosis ICD9 ICD9:117.1 one_to_one MONDO:0005968 sporotrichosis MESH MESH:D013174 one_to_one -MONDO:0005968 sporotrichosis MONDO MONDO:0000308,MONDO:0015578 subclass +MONDO:0005968 sporotrichosis MONDO MONDO:0000308,MONDO:0002040 excluded_subClassOf +MONDO:0005968 sporotrichosis MONDO MONDO:0015578 subclass MONDO:0005968 sporotrichosis MedDRA MedDRA:10041736 one_to_one MONDO:0005968 sporotrichosis NCBITaxon NCBITaxon:29908 realized_in_response_to_stimulus MONDO:0005968 sporotrichosis Orphanet Orphanet:826 one_to_one @@ -32723,7 +32839,7 @@ MONDO:0005969 st. Louis encephalitis HP HP:0001259,HP:0001289 disease_has_featur MONDO:0005969 st. Louis encephalitis ICD10 ICD10:A83.3 one_to_one MONDO:0005969 st. Louis encephalitis ICD9 ICD9:062.3 one_to_one MONDO:0005969 st. Louis encephalitis MESH MESH:D004674 one_to_one -MONDO:0005969 st. Louis encephalitis MONDO MONDO:0005763,MONDO:0006009,MONDO:0015659 subclass +MONDO:0005969 st. Louis encephalitis MONDO MONDO:0005763,MONDO:0006009,MONDO:0015659,MONDO:0020067 subclass MONDO:0005969 st. Louis encephalitis MedDRA MedDRA:10041896 one_to_one MONDO:0005969 st. Louis encephalitis NCBITaxon NCBITaxon:11080 realized_in_response_to_stimulus MONDO:0005969 st. Louis encephalitis NCBITaxon NCBITaxon:7174 transmitted_by @@ -33002,7 +33118,7 @@ MONDO:0006000 tuberculous peritonitis EFO EFO:0007529 one_to_one MONDO:0006000 tuberculous peritonitis ICD10 ICD10:A18.31 one_to_one MONDO:0006000 tuberculous peritonitis ICD9 ICD9:014.0,ICD9:014.00,ICD9:014.01 inexact MONDO:0006000 tuberculous peritonitis MESH MESH:D014395 one_to_one -MONDO:0006000 tuberculous peritonitis MONDO MONDO:0004522,MONDO:0005768 subclass +MONDO:0006000 tuberculous peritonitis MONDO MONDO:0000369,MONDO:0004522,MONDO:0005768 subclass MONDO:0006000 tuberculous peritonitis NCBITaxon NCBITaxon:1773 realized_in_response_to_stimulus MONDO:0006000 tuberculous peritonitis SCTID SCTID:44572005 one_to_one MONDO:0006000 tuberculous peritonitis UMLS UMLS:C0041325 one_to_one @@ -33147,7 +33263,7 @@ MONDO:0006015 Waterhouse-Friderichsen syndrome HP HP:0001287 disease_has_feature MONDO:0006015 Waterhouse-Friderichsen syndrome ICD10 ICD10:A39.1,ICD10:A39.1+,ICD10:E35.1* inexact MONDO:0006015 Waterhouse-Friderichsen syndrome ICD9 ICD9:036.3 one_to_one MONDO:0006015 Waterhouse-Friderichsen syndrome MESH MESH:D014884 one_to_one -MONDO:0006015 Waterhouse-Friderichsen syndrome MONDO MONDO:0002254,MONDO:0019801 subclass +MONDO:0006015 Waterhouse-Friderichsen syndrome MONDO MONDO:0002254,MONDO:0005495,MONDO:0019801 subclass MONDO:0006015 Waterhouse-Friderichsen syndrome MedDRA MedDRA:10047847 one_to_one MONDO:0006015 Waterhouse-Friderichsen syndrome NCIT NCIT:C85225 one_to_one MONDO:0006015 Waterhouse-Friderichsen syndrome Orphanet Orphanet:100067 one_to_one @@ -33344,7 +33460,8 @@ MONDO:0006044 nephrosclerosis GARD GARD:0007179 one_to_one MONDO:0006044 nephrosclerosis ICD10 ICD10:I12,ICD10:N26.9 inexact MONDO:0006044 nephrosclerosis ICD9 ICD9:587 one_to_one MONDO:0006044 nephrosclerosis MESH MESH:D009400 one_to_one -MONDO:0006044 nephrosclerosis MONDO MONDO:0001105,MONDO:0002286,MONDO:0024236 subclass +MONDO:0006044 nephrosclerosis MONDO MONDO:0001105 excluded_subClassOf +MONDO:0006044 nephrosclerosis MONDO MONDO:0002286,MONDO:0024236 subclass MONDO:0006044 nephrosclerosis SCTID SCTID:32916005 one_to_one MONDO:0006044 nephrosclerosis UMLS UMLS:C0027719 one_to_one MONDO:0006045 ovarian clear cell adenocarcinoma DOID DOID:5304 one_to_one @@ -33449,19 +33566,24 @@ MONDO:0006067 acinar prostate mucinous adenocarcinoma MONDO MONDO:0002493,MONDO: MONDO:0006067 acinar prostate mucinous adenocarcinoma NCIT NCIT:C5537 one_to_one MONDO:0006067 acinar prostate mucinous adenocarcinoma UMLS UMLS:C1335513 one_to_one MONDO:0006068 ACTH-producing pituitary gland adenoma EFO EFO:1000066 one_to_one -MONDO:0006068 ACTH-producing pituitary gland adenoma MONDO MONDO:0006373 subclass +MONDO:0006068 ACTH-producing pituitary gland adenoma GO GO:0051458 realized_in +MONDO:0006068 ACTH-producing pituitary gland adenoma MONDO MONDO:0004972,MONDO:0006373,MONDO:0045058 subclass MONDO:0006068 ACTH-producing pituitary gland adenoma NCIT NCIT:C7462 one_to_one +MONDO:0006068 ACTH-producing pituitary gland adenoma UBERON UBERON:0000007 disease_has_location MONDO:0006069 ACTH-producing pituitary gland carcinoma DOID DOID:6276 one_to_one MONDO:0006069 ACTH-producing pituitary gland carcinoma EFO EFO:1000067 one_to_one +MONDO:0006069 ACTH-producing pituitary gland carcinoma GO GO:0051458 realized_in MONDO:0006069 ACTH-producing pituitary gland carcinoma HP HP:0011043 disease_has_feature -MONDO:0006069 ACTH-producing pituitary gland carcinoma MONDO MONDO:0003604,MONDO:0017582 subclass +MONDO:0006069 ACTH-producing pituitary gland carcinoma MONDO MONDO:0003604 excluded_subClassOf +MONDO:0006069 ACTH-producing pituitary gland carcinoma MONDO MONDO:0004992,MONDO:0017582,MONDO:0045058 subclass MONDO:0006069 ACTH-producing pituitary gland carcinoma NCIT NCIT:C5964 one_to_one +MONDO:0006069 ACTH-producing pituitary gland carcinoma UBERON UBERON:0000007 disease_has_location MONDO:0006069 ACTH-producing pituitary gland carcinoma UMLS UMLS:C1334556 one_to_one MONDO:0006071 adenofibroma DOID DOID:2683 one_to_one MONDO:0006071 adenofibroma EFO EFO:1000070 one_to_one MONDO:0006071 adenofibroma ICDO ICDO:9013/0 one_to_one MONDO:0006071 adenofibroma MESH MESH:D000232 one_to_one -MONDO:0006071 adenofibroma MONDO MONDO:0000624,MONDO:0000636,MONDO:0005167 subclass +MONDO:0006071 adenofibroma MONDO MONDO:0000624,MONDO:0005167 subclass MONDO:0006071 adenofibroma NCIT NCIT:C8984 one_to_one MONDO:0006071 adenofibroma UMLS UMLS:C0001422 one_to_one MONDO:0006073 adenomatoid odontogenic tumor EFO EFO:1000072 one_to_one @@ -33975,13 +34097,14 @@ MONDO:0006173 conjunctival squamous cell carcinoma SCTID SCTID:255003007 one_to_ MONDO:0006173 conjunctival squamous cell carcinoma UBERON UBERON:0001811 disease_has_location MONDO:0006173 conjunctival squamous cell carcinoma UMLS UMLS:C0346359 one_to_one MONDO:0006174 cortisol-producing adrenal cortex adenoma EFO EFO:1000208 one_to_one +MONDO:0006174 cortisol-producing adrenal cortex adenoma GO GO:0043400 realized_in MONDO:0006174 cortisol-producing adrenal cortex adenoma MONDO MONDO:0003924 subclass MONDO:0006174 cortisol-producing adrenal cortex adenoma NCIT NCIT:C48449 one_to_one MONDO:0006174 cortisol-producing adrenal cortex adenoma UMLS UMLS:C1707525 one_to_one -MONDO:0006176 cribriform carcinoma DOID DOID:5675 one_to_one MONDO:0006176 cribriform carcinoma EFO EFO:1000210 one_to_one MONDO:0006176 cribriform carcinoma ICDO ICDO:8201/3 one_to_one -MONDO:0006176 cribriform carcinoma MONDO MONDO:0004989 subclass +MONDO:0006176 cribriform carcinoma MONDO MONDO:0004993 subclass +MONDO:0006176 cribriform carcinoma NCIT NCIT:C35920 disease_has_feature MONDO:0006176 cribriform carcinoma NCIT NCIT:C35920 has_finding MONDO:0006176 cribriform carcinoma NCIT NCIT:C3680 one_to_one MONDO:0006176 cribriform carcinoma UMLS UMLS:C0205643 one_to_one @@ -34204,7 +34327,8 @@ MONDO:0006215 gallbladder adenocarcinoma UBERON UBERON:0002110 disease_has_locat MONDO:0006215 gallbladder adenocarcinoma UMLS UMLS:C0279651 one_to_one MONDO:0006216 gallbladder adenoma DOID DOID:0050893 one_to_one MONDO:0006216 gallbladder adenoma EFO EFO:1000263 one_to_one -MONDO:0006216 gallbladder adenoma MONDO MONDO:0004972,MONDO:0005304,MONDO:0006180,MONDO:0021416 subclass +MONDO:0006216 gallbladder adenoma MONDO MONDO:0005304 excluded_subClassOf +MONDO:0006216 gallbladder adenoma MONDO MONDO:0004972,MONDO:0006180,MONDO:0021416 subclass MONDO:0006216 gallbladder adenoma NCIT NCIT:C40560 has_finding MONDO:0006216 gallbladder adenoma NCIT NCIT:C7720 one_to_one MONDO:0006216 gallbladder adenoma UBERON UBERON:0002110 disease_has_location @@ -34332,10 +34456,15 @@ MONDO:0006235 granular cell tumor UMLS UMLS:C0085167 one_to_one MONDO:0006237 granulocytic sarcoma EFO EFO:1000286 one_to_one MONDO:0006237 granulocytic sarcoma MONDO MONDO:0006861 subclass MONDO:0006237 granulocytic sarcoma NCIT NCIT:C35815 one_to_one -MONDO:0006238 growth hormone-producing pituitary gland adenoma EFO EFO:1000287 one_to_one -MONDO:0006238 growth hormone-producing pituitary gland adenoma MONDO MONDO:0019927 subclass +MONDO:0006238 growth hormone-producing pituitary gland adenoma DOID DOID:6255 one_to_one +MONDO:0006238 growth hormone-producing pituitary gland adenoma EFO EFO:0004125,EFO:1000287 inexact +MONDO:0006238 growth hormone-producing pituitary gland adenoma GO GO:0030252 realized_in +MONDO:0006238 growth hormone-producing pituitary gland adenoma ICD10 ICD10:D35.2,ICD10:E22.0 inexact +MONDO:0006238 growth hormone-producing pituitary gland adenoma MONDO MONDO:0004972,MONDO:0006373,MONDO:0019927 subclass MONDO:0006238 growth hormone-producing pituitary gland adenoma NCIT NCIT:C7461 one_to_one +MONDO:0006238 growth hormone-producing pituitary gland adenoma Orphanet Orphanet:96256 one_to_one MONDO:0006238 growth hormone-producing pituitary gland adenoma SCTID SCTID:254957009 one_to_one +MONDO:0006238 growth hormone-producing pituitary gland adenoma UBERON UBERON:0000007 disease_has_location MONDO:0006239 head and neck paraganglioma EFO EFO:1000288 one_to_one MONDO:0006239 head and neck paraganglioma MONDO MONDO:0000448,MONDO:0017371 subclass MONDO:0006239 head and neck paraganglioma NCIT NCIT:C35913,NCIT:C47835 has_finding @@ -34356,7 +34485,8 @@ MONDO:0006243 hepatoid adenocarcinoma NCIT NCIT:C66950 one_to_one MONDO:0006243 hepatoid adenocarcinoma UMLS UMLS:C1266090 one_to_one MONDO:0006244 HER2 positive breast carcinoma DOID DOID:0060079 one_to_one MONDO:0006244 HER2 positive breast carcinoma EFO EFO:1000294 one_to_one -MONDO:0006244 HER2 positive breast carcinoma MONDO MONDO:0006116 subclass +MONDO:0006244 HER2 positive breast carcinoma MONDO MONDO:0006116,MONDO:0007254 subclass +MONDO:0006244 HER2 positive breast carcinoma NCIT NCIT:C68748 disease_has_feature MONDO:0006244 HER2 positive breast carcinoma NCIT NCIT:C38328 has_finding MONDO:0006244 HER2 positive breast carcinoma NCIT NCIT:C53556 one_to_one MONDO:0006244 HER2 positive breast carcinoma SCTID SCTID:427685000 one_to_one @@ -34545,7 +34675,7 @@ MONDO:0006277 lung lymphangioleiomyomatosis GARD GARD:0003319 one_to_one MONDO:0006277 lung lymphangioleiomyomatosis ICD10 ICD10:D48.7 one_to_one MONDO:0006277 lung lymphangioleiomyomatosis ICD9 ICD9:518.89 inexact MONDO:0006277 lung lymphangioleiomyomatosis MESH MESH:D018192 one_to_one -MONDO:0006277 lung lymphangioleiomyomatosis MONDO MONDO:0005138,MONDO:0011705,MONDO:0015510,MONDO:0017027,MONDO:0020031 subclass +MONDO:0006277 lung lymphangioleiomyomatosis MONDO MONDO:0005138,MONDO:0011705,MONDO:0015510,MONDO:0017027,MONDO:0019099 subclass MONDO:0006277 lung lymphangioleiomyomatosis MedDRA MedDRA:10049459 one_to_one MONDO:0006277 lung lymphangioleiomyomatosis NCIT NCIT:C38153 one_to_one MONDO:0006277 lung lymphangioleiomyomatosis OMIM OMIM:606690 one_to_one @@ -34665,7 +34795,8 @@ MONDO:0006294 pleural cancer DOID DOID:5158 one_to_one MONDO:0006294 pleural cancer EFO EFO:1000362 one_to_one MONDO:0006294 pleural cancer ICD10 ICD10:C38.4 one_to_one MONDO:0006294 pleural cancer ICD9 ICD9:163,ICD9:163.8,ICD9:163.9 inexact -MONDO:0006294 pleural cancer MONDO MONDO:0000376,MONDO:0002176,MONDO:0004992,MONDO:0021065 subclass +MONDO:0006294 pleural cancer MONDO MONDO:0002176 excluded_subClassOf +MONDO:0006294 pleural cancer MONDO MONDO:0000376,MONDO:0003274,MONDO:0004992,MONDO:0021065 subclass MONDO:0006294 pleural cancer NCIT NCIT:C3547 one_to_one MONDO:0006294 pleural cancer SCTID SCTID:363433009 one_to_one MONDO:0006294 pleural cancer UBERON UBERON:0000977 disease_has_location @@ -34731,7 +34862,8 @@ MONDO:0006307 mixed somatotroph-lactotroph pituitary gland adenoma NCIT NCIT:C45 MONDO:0006307 mixed somatotroph-lactotroph pituitary gland adenoma UMLS UMLS:C1709052 one_to_one MONDO:0006309 mucinous gastric adenocarcinoma DOID DOID:3716 one_to_one MONDO:0006309 mucinous gastric adenocarcinoma EFO EFO:1000386 one_to_one -MONDO:0006309 mucinous gastric adenocarcinoma MONDO MONDO:0004957,MONDO:0005017 subclass +MONDO:0006309 mucinous gastric adenocarcinoma MONDO MONDO:0005017 excluded_subClassOf +MONDO:0006309 mucinous gastric adenocarcinoma MONDO MONDO:0004957,MONDO:0005036 subclass MONDO:0006309 mucinous gastric adenocarcinoma NCIT NCIT:C35999 has_finding MONDO:0006309 mucinous gastric adenocarcinoma NCIT NCIT:C5248 one_to_one MONDO:0006309 mucinous gastric adenocarcinoma ONCOTREE ONCOTREE:MSTAD one_to_one @@ -34980,7 +35112,8 @@ MONDO:0006358 parotid gland squamous cell carcinoma UMLS UMLS:C1335367 one_to_on MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation DOID DOID:2643 one_to_one MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation EFO EFO:1000464 one_to_one MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation MESH MESH:D054973 one_to_one -MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation MONDO MONDO:0002604 subclass +MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation MONDO MONDO:0002604 excluded_subClassOf +MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation MONDO MONDO:0006424 subclass MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation NCIT NCIT:C38150 one_to_one MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation ONCOTREE ONCOTREE:PECOMA one_to_one MONDO:0006359 neoplasm with perivascular epithelioid cell differentiation UMLS UMLS:C1300127 one_to_one @@ -35013,7 +35146,7 @@ MONDO:0006363 peritoneal multicystic mesothelioma Orphanet Orphanet:168816 one_t MONDO:0006363 peritoneal multicystic mesothelioma SCTID SCTID:716650003 one_to_one MONDO:0006363 peritoneal multicystic mesothelioma UMLS UMLS:C1334818 one_to_one MONDO:0006364 peritoneal well differentiated papillary mesothelioma EFO EFO:1000469 one_to_one -MONDO:0006364 peritoneal well differentiated papillary mesothelioma MONDO MONDO:0002112,MONDO:0003688 subclass +MONDO:0006364 peritoneal well differentiated papillary mesothelioma MONDO MONDO:0003688,MONDO:0006362 subclass MONDO:0006364 peritoneal well differentiated papillary mesothelioma NCIT NCIT:C26682,NCIT:C2885 has_finding MONDO:0006364 peritoneal well differentiated papillary mesothelioma NCIT NCIT:C45661 one_to_one MONDO:0006364 peritoneal well differentiated papillary mesothelioma UMLS UMLS:C1709507 one_to_one @@ -35077,7 +35210,8 @@ MONDO:0006374 placental choriocarcinoma UMLS UMLS:C0855173 one_to_one MONDO:0006375 placental hemangioma DOID DOID:277 one_to_one MONDO:0006375 placental hemangioma EFO EFO:1000480 one_to_one MONDO:0006375 placental hemangioma ICD9 ICD9:219.8 inexact -MONDO:0006375 placental hemangioma MONDO MONDO:0002337,MONDO:0006500,MONDO:0021498 subclass +MONDO:0006375 placental hemangioma MONDO MONDO:0002337 excluded_subClassOf +MONDO:0006375 placental hemangioma MONDO MONDO:0006500,MONDO:0021498 subclass MONDO:0006375 placental hemangioma NCIT NCIT:C4868 one_to_one MONDO:0006375 placental hemangioma SCTID SCTID:237268002 one_to_one MONDO:0006375 placental hemangioma UBERON UBERON:0001987 disease_has_location @@ -35242,7 +35376,8 @@ MONDO:0006408 sex hormone-producing adrenal cortex adenoma NCIT NCIT:C48452 one_ MONDO:0006408 sex hormone-producing adrenal cortex adenoma UMLS UMLS:C1710067 one_to_one MONDO:0006409 signet ring cell gastric adenocarcinoma DOID DOID:8025 one_to_one MONDO:0006409 signet ring cell gastric adenocarcinoma EFO EFO:1000524 one_to_one -MONDO:0006409 signet ring cell gastric adenocarcinoma MONDO MONDO:0005017,MONDO:0005092 subclass +MONDO:0006409 signet ring cell gastric adenocarcinoma MONDO MONDO:0005017 excluded_subClassOf +MONDO:0006409 signet ring cell gastric adenocarcinoma MONDO MONDO:0005036,MONDO:0005092 subclass MONDO:0006409 signet ring cell gastric adenocarcinoma NCIT NCIT:C26682,NCIT:C54582 has_finding MONDO:0006409 signet ring cell gastric adenocarcinoma NCIT NCIT:C5250 one_to_one MONDO:0006409 signet ring cell gastric adenocarcinoma ONCOTREE ONCOTREE:SSRCC one_to_one @@ -36352,7 +36487,8 @@ MONDO:0006591 panniculitis EFO EFO:1000746 one_to_one MONDO:0006591 panniculitis ICD10 ICD10:M79.3 one_to_one MONDO:0006591 panniculitis ICD9 ICD9:729.3,ICD9:729.30,ICD9:729.39 inexact MONDO:0006591 panniculitis MESH MESH:D015434 one_to_one -MONDO:0006591 panniculitis MONDO MONDO:0000001,MONDO:0002051,MONDO:0003900,MONDO:0005546,MONDO:0045027 subclass +MONDO:0006591 panniculitis MONDO MONDO:0005546 excluded_subClassOf +MONDO:0006591 panniculitis MONDO MONDO:0000001,MONDO:0002051,MONDO:0003900,MONDO:0021166 subclass MONDO:0006591 panniculitis NCIT NCIT:C33645 one_to_one MONDO:0006591 panniculitis SCTID SCTID:22125009 one_to_one MONDO:0006591 panniculitis UBERON UBERON:0002190 disease_has_inflammation_site @@ -36523,7 +36659,7 @@ MONDO:0006611 skin sarcoidosis COHD COHD:4185547 one_to_one MONDO:0006611 skin sarcoidosis DOID DOID:13402 one_to_one MONDO:0006611 skin sarcoidosis EFO EFO:1000767 one_to_one MONDO:0006611 skin sarcoidosis ICD10 ICD10:D86.3 inexact -MONDO:0006611 skin sarcoidosis MONDO MONDO:0019048,MONDO:0019293,MONDO:0019338,MONDO:0019519,MONDO:0043218 subclass +MONDO:0006611 skin sarcoidosis MONDO MONDO:0019338,MONDO:0019519 subclass MONDO:0006611 skin sarcoidosis NCIT NCIT:C34996 one_to_one MONDO:0006611 skin sarcoidosis SCTID SCTID:55941000 one_to_one MONDO:0006611 skin sarcoidosis UBERON UBERON:0000014 disease_has_location @@ -36723,10 +36859,11 @@ MONDO:0006642 alcohol withdrawal delirium EFO EFO:1000800 one_to_one MONDO:0006642 alcohol withdrawal delirium HP HP:0031258 disease_has_major_feature MONDO:0006642 alcohol withdrawal delirium ICD9 ICD9:291.0 one_to_one MONDO:0006642 alcohol withdrawal delirium MESH MESH:D000430 one_to_one -MONDO:0006642 alcohol withdrawal delirium MONDO MONDO:0005433,MONDO:0021698 subclass +MONDO:0006642 alcohol withdrawal delirium MONDO MONDO:0005433,MONDO:0007079 subclass MONDO:0006642 alcohol withdrawal delirium MedDRA MedDRA:10001610 one_to_one MONDO:0006642 alcohol withdrawal delirium SCTID SCTID:8635005 one_to_one MONDO:0006643 alcoholic cardiomyopathy DOID DOID:12935 one_to_one +MONDO:0006643 alcoholic cardiomyopathy ECTO ECTO:0001082 realized_in_response_to MONDO:0006643 alcoholic cardiomyopathy EFO EFO:1000801 one_to_one MONDO:0006643 alcoholic cardiomyopathy ICD10 ICD10:I42.6 one_to_one MONDO:0006643 alcoholic cardiomyopathy ICD9 ICD9:425.5 one_to_one @@ -36739,25 +36876,28 @@ MONDO:0006643 alcoholic cardiomyopathy UMLS UMLS:C0007192 one_to_one MONDO:0006644 alcoholic liver cirrhosis COHD COHD:196463 one_to_one MONDO:0006644 alcoholic liver cirrhosis CSP CSP:1754-7677 one_to_one MONDO:0006644 alcoholic liver cirrhosis DOID DOID:14018 one_to_one +MONDO:0006644 alcoholic liver cirrhosis ECTO ECTO:0001082 realized_in_response_to MONDO:0006644 alcoholic liver cirrhosis EFO EFO:1000802 one_to_one MONDO:0006644 alcoholic liver cirrhosis ICD10 ICD10:K70.3 one_to_one MONDO:0006644 alcoholic liver cirrhosis ICD9 ICD9:571.2 one_to_one MONDO:0006644 alcoholic liver cirrhosis MESH MESH:D008104 one_to_one -MONDO:0006644 alcoholic liver cirrhosis MONDO MONDO:0005155 subclass +MONDO:0006644 alcoholic liver cirrhosis MONDO MONDO:0005155,MONDO:0043693 subclass MONDO:0006644 alcoholic liver cirrhosis MedDRA MedDRA:10001618 one_to_one MONDO:0006644 alcoholic liver cirrhosis NCIT NCIT:C34782 one_to_one MONDO:0006644 alcoholic liver cirrhosis SCTID SCTID:419728003 one_to_one MONDO:0006644 alcoholic liver cirrhosis UMLS UMLS:C0023891,UMLS:C1622502 inexact -MONDO:0006645 alcoholic neuropathy COHD COHD:378421 one_to_one -MONDO:0006645 alcoholic neuropathy DOID DOID:14183 one_to_one -MONDO:0006645 alcoholic neuropathy EFO EFO:1000803 one_to_one -MONDO:0006645 alcoholic neuropathy ICD10 ICD10:G62.1 one_to_one -MONDO:0006645 alcoholic neuropathy ICD9 ICD9:357.5 one_to_one -MONDO:0006645 alcoholic neuropathy MESH MESH:D020269 one_to_one -MONDO:0006645 alcoholic neuropathy MONDO MONDO:0002336 subclass -MONDO:0006645 alcoholic neuropathy NCIT NCIT:C26926 one_to_one -MONDO:0006645 alcoholic neuropathy SCTID SCTID:7916009 one_to_one -MONDO:0006645 alcoholic neuropathy UMLS UMLS:C0085677 one_to_one +MONDO:0006645 alcoholic polyneuropathy COHD COHD:378421 one_to_one +MONDO:0006645 alcoholic polyneuropathy DOID DOID:14183 one_to_one +MONDO:0006645 alcoholic polyneuropathy ECTO ECTO:0001082 realized_in_response_to +MONDO:0006645 alcoholic polyneuropathy EFO EFO:1000803 one_to_one +MONDO:0006645 alcoholic polyneuropathy ICD10 ICD10:G62.1 one_to_one +MONDO:0006645 alcoholic polyneuropathy ICD9 ICD9:357.5 one_to_one +MONDO:0006645 alcoholic polyneuropathy MESH MESH:D020269 one_to_one +MONDO:0006645 alcoholic polyneuropathy MONDO MONDO:0002336 excluded_subClassOf +MONDO:0006645 alcoholic polyneuropathy MONDO MONDO:0001824 subclass +MONDO:0006645 alcoholic polyneuropathy NCIT NCIT:C26926 one_to_one +MONDO:0006645 alcoholic polyneuropathy SCTID SCTID:7916009 one_to_one +MONDO:0006645 alcoholic polyneuropathy UMLS UMLS:C0085677 one_to_one MONDO:0006646 angioleiomyoma DOID DOID:4265 one_to_one MONDO:0006646 angioleiomyoma EFO EFO:1000084,EFO:1000806 inexact MONDO:0006646 angioleiomyoma ICDO ICDO:8894/0 one_to_one @@ -36900,7 +37040,8 @@ MONDO:0006662 aseptic meningitis DOID DOID:12157 one_to_one MONDO:0006662 aseptic meningitis EFO EFO:1000823 one_to_one MONDO:0006662 aseptic meningitis ICD10 ICD10:G03.0 one_to_one MONDO:0006662 aseptic meningitis MESH MESH:D008582 one_to_one -MONDO:0006662 aseptic meningitis MONDO MONDO:0007015 subclass +MONDO:0006662 aseptic meningitis MONDO MONDO:0007015 excluded_subClassOf +MONDO:0006662 aseptic meningitis MONDO MONDO:0021108 subclass MONDO:0006662 aseptic meningitis MedDRA MedDRA:10003458 one_to_one MONDO:0006662 aseptic meningitis NCIT NCIT:C118299 one_to_one MONDO:0006662 aseptic meningitis SCTID SCTID:301770000 one_to_one @@ -37080,7 +37221,7 @@ MONDO:0006683 brachial plexus neuropathy EFO EFO:1000844 one_to_one MONDO:0006683 brachial plexus neuropathy ICD10 ICD10:G54.0 inexact MONDO:0006683 brachial plexus neuropathy ICD9 ICD9:353.0 inexact MONDO:0006683 brachial plexus neuropathy MESH MESH:D020516 one_to_one -MONDO:0006683 brachial plexus neuropathy MONDO MONDO:0002733,MONDO:0005244,MONDO:0024432 subclass +MONDO:0006683 brachial plexus neuropathy MONDO MONDO:0005244,MONDO:0024432 subclass MONDO:0006683 brachial plexus neuropathy NCIT NCIT:C27194 one_to_one MONDO:0006683 brachial plexus neuropathy SCTID SCTID:3548001 one_to_one MONDO:0006683 brachial plexus neuropathy UBERON UBERON:0001814 disease_has_location @@ -37195,8 +37336,10 @@ MONDO:0006698 cholecystolithiasis UMLS UMLS:C0947622 one_to_one MONDO:0006699 choledocholithiasis DOID DOID:11755 one_to_one MONDO:0006699 choledocholithiasis EFO EFO:1000865 one_to_one MONDO:0006699 choledocholithiasis MESH MESH:D042883 one_to_one -MONDO:0006699 choledocholithiasis MONDO MONDO:0002886,MONDO:0005151,MONDO:0005281 subclass +MONDO:0006699 choledocholithiasis MONDO MONDO:0005151,MONDO:0005281 excluded_subClassOf +MONDO:0006699 choledocholithiasis MONDO MONDO:0002886,MONDO:0005151,MONDO:0005346 subclass MONDO:0006699 choledocholithiasis MedDRA MedDRA:10049891 one_to_one +MONDO:0006699 choledocholithiasis UBERON UBERON:0001174 disease_has_location MONDO:0006699 choledocholithiasis UMLS UMLS:C0701818 one_to_one MONDO:0006700 choroid cancer DOID DOID:12759 one_to_one MONDO:0006700 choroid cancer EFO EFO:1000866 one_to_one @@ -37290,10 +37433,12 @@ MONDO:0006714 coronary aneurysm COHD COHD:316427 one_to_one MONDO:0006714 coronary aneurysm DOID DOID:3362 one_to_one MONDO:0006714 coronary aneurysm EFO EFO:1000881 one_to_one MONDO:0006714 coronary aneurysm GARD GARD:0006200 one_to_one +MONDO:0006714 coronary aneurysm HP HP:0030882 one_to_one MONDO:0006714 coronary aneurysm ICD10 ICD10:I25.4,ICD10:I25.41 inexact MONDO:0006714 coronary aneurysm ICD9 ICD9:414.11 one_to_one MONDO:0006714 coronary aneurysm MESH MESH:D003323 one_to_one -MONDO:0006714 coronary aneurysm MONDO MONDO:0006779 subclass +MONDO:0006714 coronary aneurysm MONDO MONDO:0006779 excluded_subClassOf +MONDO:0006714 coronary aneurysm MONDO MONDO:0005010 subclass MONDO:0006714 coronary aneurysm MedDRA MedDRA:10002348 one_to_one MONDO:0006714 coronary aneurysm SCTID SCTID:50570003 one_to_one MONDO:0006714 coronary aneurysm UMLS UMLS:C0010051 one_to_one @@ -37497,7 +37642,8 @@ MONDO:0006742 endemic goiter NCIT NCIT:C35023 one_to_one MONDO:0006742 endemic goiter SCTID SCTID:56805008 one_to_one MONDO:0006743 endocrine tuberculosis EFO EFO:1000917 one_to_one MONDO:0006743 endocrine tuberculosis MESH MESH:D014383 one_to_one -MONDO:0006743 endocrine tuberculosis MONDO MONDO:0018076 subclass +MONDO:0006743 endocrine tuberculosis MONDO MONDO:0018076,MONDO:0020005 subclass +MONDO:0006743 endocrine tuberculosis UBERON UBERON:0002368 disease_has_location MONDO:0006743 endocrine tuberculosis UMLS UMLS:C0041310 one_to_one MONDO:0006744 endolymphatic hydrops DOID DOID:9848 one_to_one MONDO:0006744 endolymphatic hydrops EFO EFO:1000918 one_to_one @@ -38416,7 +38562,8 @@ MONDO:0006863 myxosarcoma DOID DOID:4136 one_to_one MONDO:0006863 myxosarcoma EFO EFO:1001056 one_to_one MONDO:0006863 myxosarcoma ICDO ICDO:8840/3 one_to_one MONDO:0006863 myxosarcoma MESH MESH:D009236 one_to_one -MONDO:0006863 myxosarcoma MONDO MONDO:0002176,MONDO:0018078 subclass +MONDO:0006863 myxosarcoma MONDO MONDO:0002176 excluded_subClassOf +MONDO:0006863 myxosarcoma MONDO MONDO:0018078 subclass MONDO:0006863 myxosarcoma NCIT NCIT:C35998 has_finding MONDO:0006863 myxosarcoma NCIT NCIT:C3255 one_to_one MONDO:0006863 myxosarcoma UMLS UMLS:C0027155 one_to_one @@ -38598,7 +38745,7 @@ MONDO:0006886 thyroid gland papillary and follicular carcinoma UMLS UMLS:C020668 MONDO:0006887 parametritis DOID DOID:1260 one_to_one MONDO:0006887 parametritis EFO EFO:1001084 one_to_one MONDO:0006887 parametritis MESH MESH:D010249 one_to_one -MONDO:0006887 parametritis MONDO MONDO:0000001,MONDO:0000922,MONDO:0002654,MONDO:0043786 subclass +MONDO:0006887 parametritis MONDO MONDO:0000001,MONDO:0000922,MONDO:0002654,MONDO:0043786,MONDO:0045043 subclass MONDO:0006887 parametritis SCTID SCTID:280483007 one_to_one MONDO:0006887 parametritis UBERON UBERON:0010391 disease_has_inflammation_site MONDO:0006887 parametritis UMLS UMLS:C0030455 one_to_one @@ -38606,7 +38753,8 @@ MONDO:0006888 paraneoplastic polyneuropathy DOID DOID:8681 one_to_one MONDO:0006888 paraneoplastic polyneuropathy EFO EFO:1001085 one_to_one MONDO:0006888 paraneoplastic polyneuropathy ICD9 ICD9:357.3 one_to_one MONDO:0006888 paraneoplastic polyneuropathy MESH MESH:D020364 one_to_one -MONDO:0006888 paraneoplastic polyneuropathy MONDO MONDO:0001824,MONDO:0002336,MONDO:0018215,MONDO:0020126,MONDO:0021073 subclass +MONDO:0006888 paraneoplastic polyneuropathy MONDO MONDO:0002336 excluded_subClassOf +MONDO:0006888 paraneoplastic polyneuropathy MONDO MONDO:0001824,MONDO:0018215,MONDO:0020126,MONDO:0021073 subclass MONDO:0006888 paraneoplastic polyneuropathy MedDRA MedDRA:10062289 one_to_one MONDO:0006888 paraneoplastic polyneuropathy NCIT NCIT:C3981 one_to_one MONDO:0006888 paraneoplastic polyneuropathy SCTID SCTID:77659000 one_to_one @@ -38731,13 +38879,13 @@ MONDO:0006905 pigmented spindle cell nevus NCIT NCIT:C35894,NCIT:C39624,NCIT:C39 MONDO:0006905 pigmented spindle cell nevus NCIT NCIT:C4751 one_to_one MONDO:0006905 pigmented spindle cell nevus SCTID SCTID:254812004 one_to_one MONDO:0006906 pigmented villonodular synovitis COHD COHD:81382 one_to_one -MONDO:0006906 pigmented villonodular synovitis DOID DOID:2702 one_to_one +MONDO:0006906 pigmented villonodular synovitis DOID DOID:2702,DOID:9898 inexact MONDO:0006906 pigmented villonodular synovitis EFO EFO:1001106 one_to_one MONDO:0006906 pigmented villonodular synovitis GARD GARD:0007396 one_to_one -MONDO:0006906 pigmented villonodular synovitis ICD10 ICD10:M12.2 one_to_one -MONDO:0006906 pigmented villonodular synovitis ICD9 ICD9:719.20,ICD9:719.28 inexact +MONDO:0006906 pigmented villonodular synovitis ICD10 ICD10:M12.2,ICD10:M12.20 inexact +MONDO:0006906 pigmented villonodular synovitis ICD9 ICD9:719.2,ICD9:719.20,ICD9:719.28 inexact MONDO:0006906 pigmented villonodular synovitis MESH MESH:D013586 one_to_one -MONDO:0006906 pigmented villonodular synovitis MONDO MONDO:0002522 excluded_subClassOf +MONDO:0006906 pigmented villonodular synovitis MONDO MONDO:0002522,MONDO:0006816 excluded_subClassOf MONDO:0006906 pigmented villonodular synovitis MONDO MONDO:0002400,MONDO:0015940,MONDO:0019684 subclass MONDO:0006906 pigmented villonodular synovitis Orphanet Orphanet:66627 one_to_one MONDO:0006906 pigmented villonodular synovitis SCTID SCTID:95412009 one_to_one @@ -38768,13 +38916,6 @@ MONDO:0006909 pituitary dwarfism MONDO MONDO:0005495 subclass MONDO:0006909 pituitary dwarfism MedDRA MedDRA:10035083 inexact MONDO:0006909 pituitary dwarfism SCTID SCTID:367460001 one_to_one MONDO:0006909 pituitary dwarfism UMLS UMLS:C0013338 one_to_one -MONDO:0006910 pituitary-dependent Cushing disease DOID DOID:3946 one_to_one -MONDO:0006910 pituitary-dependent Cushing disease EFO EFO:1001110 one_to_one -MONDO:0006910 pituitary-dependent Cushing disease ICD10 ICD10:E24.0 inexact -MONDO:0006910 pituitary-dependent Cushing disease MESH MESH:D047748 one_to_one -MONDO:0006910 pituitary-dependent Cushing disease MONDO MONDO:0006793,MONDO:0018912,MONDO:0020009 subclass -MONDO:0006910 pituitary-dependent Cushing disease MedDRA MedDRA:10035109 inexact -MONDO:0006910 pituitary-dependent Cushing disease SCTID SCTID:190502001 one_to_one MONDO:0006912 pneumatosis cystoides intestinalis DOID DOID:13249 one_to_one MONDO:0006912 pneumatosis cystoides intestinalis EFO EFO:1001113 one_to_one MONDO:0006912 pneumatosis cystoides intestinalis ICD9 ICD9:569.89 inexact @@ -38873,7 +39014,7 @@ MONDO:0006927 Rickettsiaceae infectious disease NCBITaxon NCBITaxon:775 realized MONDO:0006928 proliferative vitreoretinopathy DOID DOID:9719 one_to_one MONDO:0006928 proliferative vitreoretinopathy EFO EFO:1001129 one_to_one MONDO:0006928 proliferative vitreoretinopathy MESH MESH:D018630 one_to_one -MONDO:0006928 proliferative vitreoretinopathy MONDO MONDO:0004860,MONDO:0005283,MONDO:0020246 subclass +MONDO:0006928 proliferative vitreoretinopathy MONDO MONDO:0004860,MONDO:0020246 subclass MONDO:0006928 proliferative vitreoretinopathy MedDRA MedDRA:10057896 one_to_one MONDO:0006928 proliferative vitreoretinopathy UMLS UMLS:C0242852 one_to_one MONDO:0006929 Proteus infectious disease EFO EFO:1001130 one_to_one @@ -38887,7 +39028,8 @@ MONDO:0006930 pseudobulbar palsy DOID DOID:12680 one_to_one MONDO:0006930 pseudobulbar palsy EFO EFO:1001131 one_to_one MONDO:0006930 pseudobulbar palsy ICD9 ICD9:335.23 one_to_one MONDO:0006930 pseudobulbar palsy MESH MESH:D020828 one_to_one -MONDO:0006930 pseudobulbar palsy MONDO MONDO:0003569,MONDO:0020128 subclass +MONDO:0006930 pseudobulbar palsy MONDO MONDO:0020128 excluded_subClassOf +MONDO:0006930 pseudobulbar palsy MONDO MONDO:0003569 subclass MONDO:0006930 pseudobulbar palsy MedDRA MedDRA:10037114 one_to_one MONDO:0006930 pseudobulbar palsy NCIT NCIT:C129934 one_to_one MONDO:0006930 pseudobulbar palsy SCTID SCTID:7379000 one_to_one @@ -38896,7 +39038,8 @@ MONDO:0006931 pulmonary coin lesion DOID DOID:5364 one_to_one MONDO:0006931 pulmonary coin lesion EFO EFO:1001133 one_to_one MONDO:0006931 pulmonary coin lesion ICD10 ICD10:R91.1 one_to_one MONDO:0006931 pulmonary coin lesion MESH MESH:D003074 one_to_one -MONDO:0006931 pulmonary coin lesion MONDO MONDO:0002732 subclass +MONDO:0006931 pulmonary coin lesion MONDO MONDO:0002732 excluded_subClassOf +MONDO:0006931 pulmonary coin lesion MONDO MONDO:0005275 subclass MONDO:0006931 pulmonary coin lesion UMLS UMLS:C0009250 one_to_one MONDO:0006932 pulmonary edema DOID DOID:11396 one_to_one MONDO:0006932 pulmonary edema EFO EFO:1001134 one_to_one @@ -39224,7 +39367,8 @@ MONDO:0006974 small cell sarcoma DOID DOID:3098 one_to_one MONDO:0006974 small cell sarcoma EFO EFO:1001184 one_to_one MONDO:0006974 small cell sarcoma ICDO ICDO:8803/3 one_to_one MONDO:0006974 small cell sarcoma MESH MESH:D018228 one_to_one -MONDO:0006974 small cell sarcoma MONDO MONDO:0002176,MONDO:0005089 subclass +MONDO:0006974 small cell sarcoma MONDO MONDO:0002176 excluded_subClassOf +MONDO:0006974 small cell sarcoma MONDO MONDO:0005089 subclass MONDO:0006974 small cell sarcoma NCIT NCIT:C3746 one_to_one MONDO:0006974 small cell sarcoma UMLS UMLS:C0206652 one_to_one MONDO:0006975 smooth muscle tumor CL CL:0000192 disease_arises_from_structure @@ -39520,7 +39664,7 @@ MONDO:0007015 viral meningitis EFO EFO:1001236 one_to_one MONDO:0007015 viral meningitis ICD10 ICD10:A87,ICD10:A87.9 inexact MONDO:0007015 viral meningitis ICD9 ICD9:047.8,ICD9:047.9,ICD9:321.2 inexact MONDO:0007015 viral meningitis MESH MESH:D008587 one_to_one -MONDO:0007015 viral meningitis MONDO MONDO:0004796 subclass +MONDO:0007015 viral meningitis MONDO MONDO:0004796,MONDO:0006662 subclass MONDO:0007015 viral meningitis MedDRA MedDRA:10047469 one_to_one MONDO:0007015 viral meningitis NCIT NCIT:C118298 one_to_one MONDO:0007015 viral meningitis SCTID SCTID:58170007 one_to_one @@ -39738,7 +39882,7 @@ MONDO:0007040 Sakati-Nyhan syndrome UMLS UMLS:C1275079 one_to_one MONDO:0007041 apert syndrome GARD GARD:0005833 one_to_one MONDO:0007041 apert syndrome ICD10 ICD10:Q87.0 inexact MONDO:0007041 apert syndrome MESH MESH:D000168 one_to_one -MONDO:0007041 apert syndrome MONDO MONDO:0015322,MONDO:0019796,MONDO:0020254 subclass +MONDO:0007041 apert syndrome MONDO MONDO:0002320,MONDO:0015322,MONDO:0019796,MONDO:0020254 subclass MONDO:0007041 apert syndrome MedDRA MedDRA:10002943 one_to_one MONDO:0007041 apert syndrome NCIT NCIT:C99099 one_to_one MONDO:0007041 apert syndrome OMIM OMIM:101200 one_to_one @@ -39750,7 +39894,7 @@ MONDO:0007042 Saethre-Chotzen syndrome DOID DOID:14768 one_to_one MONDO:0007042 Saethre-Chotzen syndrome EFO EFO:0007029 one_to_one MONDO:0007042 Saethre-Chotzen syndrome GARD GARD:0007598 one_to_one MONDO:0007042 Saethre-Chotzen syndrome ICD10 ICD10:Q87.0 inexact -MONDO:0007042 Saethre-Chotzen syndrome MONDO MONDO:0015945,MONDO:0019796,MONDO:0020169,MONDO:0020254 subclass +MONDO:0007042 Saethre-Chotzen syndrome MONDO MONDO:0002320,MONDO:0015945,MONDO:0019796,MONDO:0020169,MONDO:0020254 subclass MONDO:0007042 Saethre-Chotzen syndrome NCIT NCIT:C75034 one_to_one MONDO:0007042 Saethre-Chotzen syndrome OMIM OMIM:101400 one_to_one MONDO:0007042 Saethre-Chotzen syndrome Orphanet Orphanet:794 one_to_one @@ -39760,7 +39904,7 @@ MONDO:0007042 Saethre-Chotzen syndrome http http://identifiers.org/hgnc/12428,ht MONDO:0007043 Pfeiffer syndrome DOID DOID:14705 one_to_one MONDO:0007043 Pfeiffer syndrome GARD GARD:0007380 one_to_one MONDO:0007043 Pfeiffer syndrome ICD10 ICD10:Q87.0 inexact -MONDO:0007043 Pfeiffer syndrome MONDO MONDO:0000078,MONDO:0020254 subclass +MONDO:0007043 Pfeiffer syndrome MONDO MONDO:0000078,MONDO:0002320,MONDO:0020254 subclass MONDO:0007043 Pfeiffer syndrome NCIT NCIT:C99100 one_to_one MONDO:0007043 Pfeiffer syndrome OMIM OMIM:101600 one_to_one MONDO:0007043 Pfeiffer syndrome Orphanet Orphanet:710 one_to_one @@ -39776,7 +39920,7 @@ MONDO:0007045 acrofacial dysostosis, Catania type DOID DOID:0060384 one_to_one MONDO:0007045 acrofacial dysostosis, Catania type GARD GARD:0000494 one_to_one MONDO:0007045 acrofacial dysostosis, Catania type ICD10 ICD10:Q75.4 inexact MONDO:0007045 acrofacial dysostosis, Catania type MESH MESH:C538182 one_to_one -MONDO:0007045 acrofacial dysostosis, Catania type MONDO MONDO:0015159,MONDO:0015334,MONDO:0015983,MONDO:0018237,MONDO:0043005 subclass +MONDO:0007045 acrofacial dysostosis, Catania type MONDO MONDO:0002320,MONDO:0015159,MONDO:0015334,MONDO:0015983,MONDO:0018237,MONDO:0043005 subclass MONDO:0007045 acrofacial dysostosis, Catania type OMIM OMIM:101805 one_to_one MONDO:0007045 acrofacial dysostosis, Catania type Orphanet Orphanet:1786 one_to_one MONDO:0007045 acrofacial dysostosis, Catania type SCTID SCTID:720419000 one_to_one @@ -39784,7 +39928,8 @@ MONDO:0007045 acrofacial dysostosis, Catania type UMLS UMLS:C2931762 one_to_one MONDO:0007046 hereditary papulotranslucent acrokeratoderma DOID DOID:0060360 one_to_one MONDO:0007046 hereditary papulotranslucent acrokeratoderma EFO EFO:1000708 one_to_one MONDO:0007046 hereditary papulotranslucent acrokeratoderma MESH MESH:C566323 one_to_one -MONDO:0007046 hereditary papulotranslucent acrokeratoderma MONDO MONDO:0006530,MONDO:0024255 subclass +MONDO:0007046 hereditary papulotranslucent acrokeratoderma MONDO MONDO:0006530 excluded_subClassOf +MONDO:0007046 hereditary papulotranslucent acrokeratoderma MONDO MONDO:0006566,MONDO:0024255 subclass MONDO:0007046 hereditary papulotranslucent acrokeratoderma OMIM OMIM:101840 one_to_one MONDO:0007046 hereditary papulotranslucent acrokeratoderma UMLS UMLS:C1863343 one_to_one MONDO:0007047 punctate palmoplantar keratoderma type III DOID DOID:0060362 one_to_one @@ -39827,14 +39972,13 @@ MONDO:0007051 acromegaloid facial appearance syndrome OMIM OMIM:102150 one_to_on MONDO:0007051 acromegaloid facial appearance syndrome Orphanet Orphanet:965 one_to_one MONDO:0007051 acromegaloid facial appearance syndrome SCTID SCTID:720456009 one_to_one MONDO:0007051 acromegaloid facial appearance syndrome UMLS UMLS:C0796280 one_to_one -MONDO:0007052 growth hormone secreting pituitary adenoma DOID DOID:6255 one_to_one -MONDO:0007052 growth hormone secreting pituitary adenoma GARD GARD:0010959 one_to_one -MONDO:0007052 growth hormone secreting pituitary adenoma MONDO MONDO:0005332,MONDO:0019927 subclass -MONDO:0007052 growth hormone secreting pituitary adenoma OMIM OMIM:102200 one_to_one -MONDO:0007052 growth hormone secreting pituitary adenoma http http://identifiers.org/hgnc/358,http://identifiers.org/hgnc/4392 disease_has_basis_in_dysfunction_of +MONDO:0007052 growth hormone secreting pituitary adenoma 1 GARD GARD:0010959 one_to_one +MONDO:0007052 growth hormone secreting pituitary adenoma 1 MONDO MONDO:0006238 subclass +MONDO:0007052 growth hormone secreting pituitary adenoma 1 OMIM OMIM:102200 one_to_one +MONDO:0007052 growth hormone secreting pituitary adenoma 1 http http://identifiers.org/hgnc/358,http://identifiers.org/hgnc/4392 disease_has_basis_in_dysfunction_of MONDO:0007053 restless legs syndrome 1 GARD GARD:0009709 one_to_one MONDO:0007053 restless legs syndrome 1 MESH MESH:C538443 one_to_one -MONDO:0007053 restless legs syndrome 1 MONDO MONDO:0005391,MONDO:0019117,MONDO:0020573 subclass +MONDO:0007053 restless legs syndrome 1 MONDO MONDO:0002320,MONDO:0005391,MONDO:0019117,MONDO:0020573 subclass MONDO:0007053 restless legs syndrome 1 OMIM OMIM:102300 one_to_one MONDO:0007053 restless legs syndrome 1 UMLS UMLS:C3888109 one_to_one MONDO:0007054 acromial dimples MONDO MONDO:0003847 subclass @@ -39925,10 +40069,11 @@ MONDO:0007067 pyruvate kinase hyperactivity UMLS UMLS:C1863224 one_to_one MONDO:0007067 pyruvate kinase hyperactivity http http://identifiers.org/hgnc/9020 disease_has_basis_in_dysfunction_of MONDO:0007068 adenylosuccinate lyase deficiency DOID DOID:0050762 one_to_one MONDO:0007068 adenylosuccinate lyase deficiency GARD GARD:0000550 one_to_one +MONDO:0007068 adenylosuccinate lyase deficiency GO GO:0070626 disease_has_basis_in_disruption_of MONDO:0007068 adenylosuccinate lyase deficiency ICD10 ICD10:E79.8 inexact MONDO:0007068 adenylosuccinate lyase deficiency ICD9 ICD9:277.2 inexact MONDO:0007068 adenylosuccinate lyase deficiency MESH MESH:C538235 one_to_one -MONDO:0007068 adenylosuccinate lyase deficiency MONDO MONDO:0004736,MONDO:0015878,MONDO:0015919,MONDO:0019213,MONDO:0019236 subclass +MONDO:0007068 adenylosuccinate lyase deficiency MONDO MONDO:0004736,MONDO:0015878,MONDO:0015919,MONDO:0019052,MONDO:0019213,MONDO:0019236,MONDO:0044976 subclass MONDO:0007068 adenylosuccinate lyase deficiency OMIM OMIM:103050 one_to_one MONDO:0007068 adenylosuccinate lyase deficiency Orphanet Orphanet:46 one_to_one MONDO:0007068 adenylosuccinate lyase deficiency SCTID SCTID:15285008 one_to_one @@ -40011,10 +40156,11 @@ MONDO:0007078 Albright hereditary osteodystrophy UMLS UMLS:C2931404,UMLS:C349450 MONDO:0007078 Albright hereditary osteodystrophy http http://identifiers.org/hgnc/4392 disease_has_basis_in_dysfunction_of MONDO:0007079 alcohol dependence COHD COHD:435243 one_to_one MONDO:0007079 alcohol dependence DOID DOID:0050741 one_to_one +MONDO:0007079 alcohol dependence ECTO ECTO:0001082 realized_in_response_to MONDO:0007079 alcohol dependence EFO EFO:0003829 one_to_one MONDO:0007079 alcohol dependence ICD9 ICD9:303.90,ICD9:305.0 inexact MONDO:0007079 alcohol dependence KEGG KEGG:05034 one_to_one -MONDO:0007079 alcohol dependence MONDO MONDO:0005303 subclass +MONDO:0007079 alcohol dependence MONDO MONDO:0002326,MONDO:0004938,MONDO:0005303,MONDO:0021698 subclass MONDO:0007079 alcohol dependence NCIT NCIT:C93040 one_to_one MONDO:0007079 alcohol dependence OMIM OMIM:103780 one_to_one MONDO:0007079 alcohol dependence SCTID SCTID:66590003 one_to_one @@ -40046,7 +40192,7 @@ MONDO:0007084 alopecia, familial focal UMLS UMLS:C1863092 one_to_one MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome GARD GARD:0000607 one_to_one MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MESH MESH:C537057 one_to_one -MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO MONDO:0015983,MONDO:0021034 subclass +MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0021034 subclass MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome OMIM OMIM:104130 one_to_one MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome Orphanet Orphanet:1008 one_to_one MONDO:0007085 alopecia-epilepsy-pyorrhea-intellectual disability syndrome SCTID SCTID:720980004 one_to_one @@ -40129,7 +40275,7 @@ MONDO:0007097 Finnish type amyloidosis GARD GARD:0002339 one_to_one MONDO:0007097 Finnish type amyloidosis ICD10 ICD10:E85.1 inexact MONDO:0007097 Finnish type amyloidosis ICD9 ICD9:277.39 inexact MONDO:0007097 Finnish type amyloidosis MESH MESH:C537459 one_to_one -MONDO:0007097 Finnish type amyloidosis MONDO MONDO:0016134,MONDO:0018634,MONDO:0020215 subclass +MONDO:0007097 Finnish type amyloidosis MONDO MONDO:0002320,MONDO:0016134,MONDO:0018634,MONDO:0020215 subclass MONDO:0007097 Finnish type amyloidosis OMIM OMIM:105120 one_to_one MONDO:0007097 Finnish type amyloidosis Orphanet Orphanet:85448 one_to_one MONDO:0007097 Finnish type amyloidosis SCTID SCTID:419398009 one_to_one @@ -40158,7 +40304,7 @@ MONDO:0007100 familial amyloid neuropathy EFO EFO:0004129 one_to_one MONDO:0007100 familial amyloid neuropathy GARD GARD:0000656 one_to_one MONDO:0007100 familial amyloid neuropathy ICD10 ICD10:E85.1+,ICD10:G63.3* inexact MONDO:0007100 familial amyloid neuropathy ICD9 ICD9:277.39 inexact -MONDO:0007100 familial amyloid neuropathy MONDO MONDO:0016134,MONDO:0017132 subclass +MONDO:0007100 familial amyloid neuropathy MONDO MONDO:0002320,MONDO:0016134,MONDO:0017132 subclass MONDO:0007100 familial amyloid neuropathy NCIT NCIT:C84554 one_to_one MONDO:0007100 familial amyloid neuropathy OMIM OMIM:105210 one_to_one MONDO:0007100 familial amyloid neuropathy Orphanet Orphanet:85447 one_to_one @@ -40261,7 +40407,7 @@ MONDO:0007115 angioma serpiginosum, autosomal dominant OMIM OMIM:106050 one_to_o MONDO:0007115 angioma serpiginosum, autosomal dominant UMLS UMLS:C1970130 one_to_one MONDO:0007116 hereditary neurocutaneous malformation GARD GARD:0000676 one_to_one MONDO:0007116 hereditary neurocutaneous malformation ICD10 ICD10:D18.0 inexact -MONDO:0007116 hereditary neurocutaneous malformation MONDO MONDO:0015145,MONDO:0015658,MONDO:0015953,MONDO:0018729,MONDO:0020036,MONDO:0020063,MONDO:0021211,MONDO:0043218 subclass +MONDO:0007116 hereditary neurocutaneous malformation MONDO MONDO:0002320,MONDO:0015145,MONDO:0015658,MONDO:0015953,MONDO:0018729,MONDO:0020036,MONDO:0020063,MONDO:0021211,MONDO:0043218 subclass MONDO:0007116 hereditary neurocutaneous malformation OMIM OMIM:106070 one_to_one MONDO:0007116 hereditary neurocutaneous malformation Orphanet Orphanet:1062 one_to_one MONDO:0007117 angioedema, hereditary, type 1/2 MONDO MONDO:0019623 subclass @@ -40318,7 +40464,7 @@ MONDO:0007125 ankyloglossia DOID DOID:0060604 one_to_one MONDO:0007125 ankyloglossia ICD10 ICD10:Q38.1 one_to_one MONDO:0007125 ankyloglossia ICD9 ICD9:750.0 one_to_one MONDO:0007125 ankyloglossia MESH MESH:C562396 one_to_one -MONDO:0007125 ankyloglossia MONDO MONDO:0001165,MONDO:0003847,MONDO:0015615,MONDO:0019117 subclass +MONDO:0007125 ankyloglossia MONDO MONDO:0001165,MONDO:0002320,MONDO:0003847,MONDO:0015615,MONDO:0019117 subclass MONDO:0007125 ankyloglossia NCIT NCIT:C124538 one_to_one MONDO:0007125 ankyloglossia OMIM OMIM:106280 one_to_one MONDO:0007125 ankyloglossia SCTID SCTID:67787004 one_to_one @@ -40332,7 +40478,8 @@ MONDO:0007127 diffuse idiopathic skeletal hyperostosis GARD GARD:0000842 one_to_ MONDO:0007127 diffuse idiopathic skeletal hyperostosis ICD10 ICD10:M48.1 one_to_one MONDO:0007127 diffuse idiopathic skeletal hyperostosis ICD9 ICD9:721.6,ICD9:733.99 inexact MONDO:0007127 diffuse idiopathic skeletal hyperostosis MESH MESH:D004057 one_to_one -MONDO:0007127 diffuse idiopathic skeletal hyperostosis MONDO MONDO:0002123,MONDO:0002185,MONDO:0015327,MONDO:0019052,MONDO:0019711 subclass +MONDO:0007127 diffuse idiopathic skeletal hyperostosis MONDO MONDO:0002123 excluded_subClassOf +MONDO:0007127 diffuse idiopathic skeletal hyperostosis MONDO MONDO:0002185,MONDO:0015327,MONDO:0019052,MONDO:0019711 subclass MONDO:0007127 diffuse idiopathic skeletal hyperostosis NCIT NCIT:C84671 one_to_one MONDO:0007127 diffuse idiopathic skeletal hyperostosis OMIM OMIM:106400 one_to_one MONDO:0007127 diffuse idiopathic skeletal hyperostosis Orphanet Orphanet:2206 one_to_one @@ -40433,7 +40580,7 @@ MONDO:0007142 Townes-Brocks syndrome http http://identifiers.org/hgnc/10524 dise MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome GARD GARD:0000739 one_to_one MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome MESH MESH:C537785 one_to_one -MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome OMIM OMIM:107500 one_to_one MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome Orphanet Orphanet:1110 one_to_one MONDO:0007143 aortic arch anomaly-facial dysmorphism-intellectual disability syndrome UMLS UMLS:C1862682 one_to_one @@ -40471,7 +40618,7 @@ MONDO:0007150 arcus senilis DOID DOID:11342 one_to_one MONDO:0007150 arcus senilis EFO EFO:1000818 one_to_one MONDO:0007150 arcus senilis ICD10 ICD10:H18.41 one_to_one MONDO:0007150 arcus senilis MESH MESH:D001112 one_to_one -MONDO:0007150 arcus senilis MONDO MONDO:0001515,MONDO:0003847,MONDO:0015107 subclass +MONDO:0007150 arcus senilis MONDO MONDO:0001515,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0007150 arcus senilis MedDRA MedDRA:10003082 one_to_one MONDO:0007150 arcus senilis OMIM OMIM:107800 one_to_one MONDO:0007150 arcus senilis SCTID SCTID:231924000 one_to_one @@ -40577,7 +40724,7 @@ MONDO:0007167 atelosteogenesis type I http http://identifiers.org/hgnc/3755 dise MONDO:0007168 atelosteogenesis type III GARD GARD:0010608 one_to_one MONDO:0007168 atelosteogenesis type III ICD10 ICD10:Q78.8 inexact MONDO:0007168 atelosteogenesis type III MESH MESH:C579928 one_to_one -MONDO:0007168 atelosteogenesis type III MONDO MONDO:0000389,MONDO:0015159,MONDO:0015322,MONDO:0015983,MONDO:0019690,MONDO:0019700,MONDO:0043005 subclass +MONDO:0007168 atelosteogenesis type III MONDO MONDO:0000389,MONDO:0002320,MONDO:0015159,MONDO:0015322,MONDO:0015983,MONDO:0019690,MONDO:0019700,MONDO:0043005 subclass MONDO:0007168 atelosteogenesis type III OMIM OMIM:108721 one_to_one MONDO:0007168 atelosteogenesis type III Orphanet Orphanet:56305 one_to_one MONDO:0007168 atelosteogenesis type III http http://identifiers.org/hgnc/3755 disease_has_basis_in_dysfunction_of @@ -40773,7 +40920,7 @@ MONDO:0007199 blepharochalasis, superior UMLS UMLS:C1862275 one_to_one MONDO:0007200 blepharonasofacial malformation syndrome GARD GARD:0004238 one_to_one MONDO:0007200 blepharonasofacial malformation syndrome ICD10 ICD10:Q87.0 inexact MONDO:0007200 blepharonasofacial malformation syndrome MESH MESH:C536303 one_to_one -MONDO:0007200 blepharonasofacial malformation syndrome MONDO MONDO:0015159,MONDO:0015503,MONDO:0015983,MONDO:0018562 subclass +MONDO:0007200 blepharonasofacial malformation syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015503,MONDO:0015983,MONDO:0018562 subclass MONDO:0007200 blepharonasofacial malformation syndrome OMIM OMIM:110050 one_to_one MONDO:0007200 blepharonasofacial malformation syndrome Orphanet Orphanet:1252 one_to_one MONDO:0007200 blepharonasofacial malformation syndrome SCTID SCTID:717913006 one_to_one @@ -40782,7 +40929,7 @@ MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome DOID DO MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome GARD GARD:0000023 one_to_one MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome ICD10 ICD10:Q10.3 inexact MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO MONDO:0015217 excluded_subClassOf -MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO MONDO:0000426,MONDO:0008537,MONDO:0018413,MONDO:0019852,MONDO:0020162,MONDO:0020169 subclass +MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0008537,MONDO:0018413,MONDO:0019852,MONDO:0020162,MONDO:0020169 subclass MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome OMIM OMIM:110100 one_to_one MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome Orphanet Orphanet:126 one_to_one MONDO:0007201 blepharophimosis, ptosis, and epicanthus inversus syndrome SCTID SCTID:715391004 one_to_one @@ -41277,7 +41424,7 @@ MONDO:0007275 carpal tunnel syndrome EFO EFO:0004143 one_to_one MONDO:0007275 carpal tunnel syndrome ICD10 ICD10:G56.0,ICD10:G56.00 inexact MONDO:0007275 carpal tunnel syndrome ICD9 ICD9:354.0 one_to_one MONDO:0007275 carpal tunnel syndrome MESH MESH:D002349 one_to_one -MONDO:0007275 carpal tunnel syndrome MONDO MONDO:0002254,MONDO:0003615,MONDO:0003847,MONDO:0020127 subclass +MONDO:0007275 carpal tunnel syndrome MONDO MONDO:0002254,MONDO:0002320,MONDO:0003615,MONDO:0003847,MONDO:0020127 subclass MONDO:0007275 carpal tunnel syndrome NCIT NCIT:C34450 one_to_one MONDO:0007275 carpal tunnel syndrome OMIM OMIM:115430 one_to_one MONDO:0007275 carpal tunnel syndrome SCTID SCTID:57406009 one_to_one @@ -41518,7 +41665,7 @@ MONDO:0007308 Charcot-Marie-tooth disease type 2A1 http http://identifiers.org/h MONDO:0007309 Charcot-Marie-tooth disease type 1A DOID DOID:0110148 one_to_one MONDO:0007309 Charcot-Marie-tooth disease type 1A GARD GARD:0001245 one_to_one MONDO:0007309 Charcot-Marie-tooth disease type 1A ICD10 ICD10:G60.0 inexact -MONDO:0007309 Charcot-Marie-tooth disease type 1A MONDO MONDO:0016950,MONDO:0019011 subclass +MONDO:0007309 Charcot-Marie-tooth disease type 1A MONDO MONDO:0002320,MONDO:0016950,MONDO:0019011 subclass MONDO:0007309 Charcot-Marie-tooth disease type 1A NCIT NCIT:C75468 one_to_one MONDO:0007309 Charcot-Marie-tooth disease type 1A OMIM OMIM:118220 one_to_one MONDO:0007309 Charcot-Marie-tooth disease type 1A Orphanet Orphanet:101081 one_to_one @@ -41624,7 +41771,7 @@ MONDO:0007324 chorea NCIT NCIT:C84633 one_to_one MONDO:0007324 chorea Orphanet Orphanet:1429 one_to_one MONDO:0007324 chorea SCTID SCTID:230306001 one_to_one MONDO:0007325 choreoathetosis, familial inverted MESH MESH:C566127 one_to_one -MONDO:0007325 choreoathetosis, familial inverted MONDO MONDO:0001595,MONDO:0003847,MONDO:0015957 subclass +MONDO:0007325 choreoathetosis, familial inverted MONDO MONDO:0001595,MONDO:0002320,MONDO:0003847,MONDO:0015957 subclass MONDO:0007325 choreoathetosis, familial inverted OMIM OMIM:118750 one_to_one MONDO:0007325 choreoathetosis, familial inverted UMLS UMLS:C1861569 one_to_one MONDO:0007326 paroxysmal nonkinesigenic dyskinesia 1 DOID DOID:0090049 one_to_one @@ -41670,7 +41817,8 @@ MONDO:0007334 autosomal dominant popliteal pterygium syndrome OMIM OMIM:119500 o MONDO:0007334 autosomal dominant popliteal pterygium syndrome Orphanet Orphanet:1300 one_to_one MONDO:0007334 autosomal dominant popliteal pterygium syndrome http http://identifiers.org/hgnc/6121 disease_has_basis_in_dysfunction_of MONDO:0007335 OFC1 MESH MESH:C566121 one_to_one -MONDO:0007335 OFC1 MONDO MONDO:0015420,MONDO:0016043,MONDO:0016044 subclass +MONDO:0007335 OFC1 MONDO MONDO:0021128 has_modifier +MONDO:0007335 OFC1 MONDO MONDO:0000358 subclass MONDO:0007335 OFC1 NCIT NCIT:C124838 one_to_one MONDO:0007335 OFC1 OMIM OMIM:119530 one_to_one MONDO:0007335 OFC1 UMLS UMLS:C1861537 one_to_one @@ -41701,7 +41849,7 @@ MONDO:0007338 cleft soft palate SCTID SCTID:253997002 one_to_one MONDO:0007339 blepharo-cheilo-odontic syndrome GARD GARD:0002071 one_to_one MONDO:0007339 blepharo-cheilo-odontic syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007339 blepharo-cheilo-odontic syndrome MESH MESH:C536188 one_to_one -MONDO:0007339 blepharo-cheilo-odontic syndrome MONDO MONDO:0015335,MONDO:0015336,MONDO:0015958,MONDO:0019287,MONDO:0020161,MONDO:0043008 subclass +MONDO:0007339 blepharo-cheilo-odontic syndrome MONDO MONDO:0002320,MONDO:0015335,MONDO:0015336,MONDO:0015958,MONDO:0019287,MONDO:0020161,MONDO:0043008 subclass MONDO:0007339 blepharo-cheilo-odontic syndrome OMIM OMIM:119580 one_to_one MONDO:0007339 blepharo-cheilo-odontic syndrome OMIMPS OMIMPS:119580 one_to_one MONDO:0007339 blepharo-cheilo-odontic syndrome Orphanet Orphanet:1997 one_to_one @@ -41744,7 +41892,7 @@ MONDO:0007343 isolated congenital digital clubbing Orphanet Orphanet:217059 one_ MONDO:0007343 isolated congenital digital clubbing http http://identifiers.org/hgnc/5154 disease_has_basis_in_dysfunction_of MONDO:0007344 cluster headache, familial MESH MESH:C566117 one_to_one MONDO:0007344 cluster headache, familial MONDO MONDO:0021152 has_modifier -MONDO:0007344 cluster headache, familial MONDO MONDO:0003847,MONDO:0015954,MONDO:0016517,MONDO:0043537 subclass +MONDO:0007344 cluster headache, familial MONDO MONDO:0002320,MONDO:0003847,MONDO:0015954,MONDO:0016517,MONDO:0043537 subclass MONDO:0007344 cluster headache, familial OMIM OMIM:119915 one_to_one MONDO:0007344 cluster headache, familial UMLS UMLS:C1861513 one_to_one MONDO:0007345 aorta coarctation COHD COHD:321119 one_to_one @@ -41812,13 +41960,13 @@ MONDO:0007354 coloboma of optic nerve (disease) HP HP:0000588 one_to_one MONDO:0007354 coloboma of optic nerve (disease) ICD10 ICD10:H47.31,ICD10:H47.319,ICD10:Q14.2 inexact MONDO:0007354 coloboma of optic nerve (disease) ICD9 ICD9:377.23 one_to_one MONDO:0007354 coloboma of optic nerve (disease) MESH MESH:C535970 one_to_one -MONDO:0007354 coloboma of optic nerve (disease) MONDO MONDO:0001476,MONDO:0001834,MONDO:0003847,MONDO:0015107 subclass +MONDO:0007354 coloboma of optic nerve (disease) MONDO MONDO:0001476,MONDO:0001834,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0007354 coloboma of optic nerve (disease) OMIM OMIM:120430 one_to_one MONDO:0007354 coloboma of optic nerve (disease) SCTID SCTID:17541006 one_to_one MONDO:0007354 coloboma of optic nerve (disease) http http://identifiers.org/hgnc/8620 disease_has_basis_in_dysfunction_of MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability GARD GARD:0001440 one_to_one MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability ICD10 ICD10:Q12.2 inexact -MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability MONDO MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass +MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability MONDO MONDO:0002320,MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability OMIM OMIM:120433 one_to_one MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability Orphanet Orphanet:1473 one_to_one MONDO:0007355 uveal coloboma-cleft lip and palate-intellectual disability UMLS UMLS:C0795902 one_to_one @@ -41837,9 +41985,9 @@ MONDO:0007358 comedones, familial Dyskeratotic MONDO MONDO:0003847 subclass MONDO:0007358 comedones, familial Dyskeratotic OMIM OMIM:120450 one_to_one MONDO:0007358 comedones, familial Dyskeratotic SCTID SCTID:254219004 one_to_one MONDO:0007358 comedones, familial Dyskeratotic UMLS UMLS:C0345424 one_to_one -MONDO:0007359 commissural 51P pits MONDO MONDO:0003847 subclass -MONDO:0007359 commissural 51P pits OMIM OMIM:120500 one_to_one -MONDO:0007359 commissural 51P pits SCTID SCTID:109550008 one_to_one +MONDO:0007359 commissural lip pits MONDO MONDO:0003847 subclass +MONDO:0007359 commissural lip pits OMIM OMIM:120500 one_to_one +MONDO:0007359 commissural lip pits SCTID SCTID:109550008 one_to_one MONDO:0007360 branchiootic syndrome 2 MESH MESH:C565171 one_to_one MONDO:0007360 branchiootic syndrome 2 MONDO MONDO:0018878 subclass MONDO:0007360 branchiootic syndrome 2 OMIM OMIM:120502 one_to_one @@ -42008,7 +42156,7 @@ MONDO:0007382 Ramos-Arroyo syndrome UMLS UMLS:C2930866 one_to_one MONDO:0007383 Stern-Lubinsky-Durrie syndrome GARD GARD:0001531 one_to_one MONDO:0007383 Stern-Lubinsky-Durrie syndrome ICD10 ICD10:H18.5 inexact MONDO:0007383 Stern-Lubinsky-Durrie syndrome MESH MESH:C537488 one_to_one -MONDO:0007383 Stern-Lubinsky-Durrie syndrome MONDO MONDO:0019287,MONDO:0020215 subclass +MONDO:0007383 Stern-Lubinsky-Durrie syndrome MONDO MONDO:0002320,MONDO:0019287,MONDO:0020215 subclass MONDO:0007383 Stern-Lubinsky-Durrie syndrome OMIM OMIM:122440 one_to_one MONDO:0007383 Stern-Lubinsky-Durrie syndrome Orphanet Orphanet:3194 one_to_one MONDO:0007384 congenital trigeminal anesthesia GARD GARD:0010034 one_to_one @@ -42143,7 +42291,7 @@ MONDO:0007405 Crouzon syndrome DOID DOID:2339 one_to_one MONDO:0007405 Crouzon syndrome GARD GARD:0006206 one_to_one MONDO:0007405 Crouzon syndrome ICD10 ICD10:Q75.1 inexact MONDO:0007405 Crouzon syndrome MESH MESH:D003394 one_to_one -MONDO:0007405 Crouzon syndrome MONDO MONDO:0015338,MONDO:0020254 subclass +MONDO:0007405 Crouzon syndrome MONDO MONDO:0002320,MONDO:0015338,MONDO:0020254 subclass MONDO:0007405 Crouzon syndrome NCIT NCIT:C84653 one_to_one MONDO:0007405 Crouzon syndrome OMIM OMIM:123500 one_to_one MONDO:0007405 Crouzon syndrome Orphanet Orphanet:207 one_to_one @@ -42203,7 +42351,7 @@ MONDO:0007412 Beare-Stevenson cutis gyrata syndrome http http://identifiers.org/ MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome GARD GARD:0009487 one_to_one MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome MESH MESH:C536229 one_to_one -MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome MONDO MONDO:0020120,MONDO:0020127,MONDO:0043008 subclass +MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome MONDO MONDO:0002320,MONDO:0020120,MONDO:0020127,MONDO:0043008 subclass MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome OMIM OMIM:123853 one_to_one MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome Orphanet Orphanet:2674 one_to_one MONDO:0007413 Cyprus facial-neuromusculoskeletal syndrome UMLS UMLS:C1852396 one_to_one @@ -42320,7 +42468,8 @@ MONDO:0007432 CADASIL GARD GARD:0001049 one_to_one MONDO:0007432 CADASIL ICD10 ICD10:F01.1 inexact MONDO:0007432 CADASIL ICD9 ICD9:323.9,ICD9:447.8 inexact MONDO:0007432 CADASIL MESH MESH:D046589 one_to_one -MONDO:0007432 CADASIL MONDO MONDO:0002254,MONDO:0004884,MONDO:0015547,MONDO:0015952,MONDO:0018787,MONDO:0019046,MONDO:0020144,MONDO:0020262 subclass +MONDO:0007432 CADASIL MONDO MONDO:0019046 excluded_subClassOf +MONDO:0007432 CADASIL MONDO MONDO:0002254,MONDO:0015547,MONDO:0018787,MONDO:0020144,MONDO:0020262 subclass MONDO:0007432 CADASIL MedDRA MedDRA:10065551 one_to_one MONDO:0007432 CADASIL NCIT NCIT:C84606 one_to_one MONDO:0007432 CADASIL OMIMPS OMIMPS:125310 one_to_one @@ -42380,7 +42529,8 @@ MONDO:0007439 deoxyribose-5-phosphate aldolase deficiency MONDO MONDO:0003847 su MONDO:0007439 deoxyribose-5-phosphate aldolase deficiency OMIM OMIM:125460 one_to_one MONDO:0007439 deoxyribose-5-phosphate aldolase deficiency UMLS UMLS:C1852200 one_to_one MONDO:0007440 MAFD1 DOID DOID:0080220 one_to_one -MONDO:0007440 MAFD1 MONDO MONDO:0001866,MONDO:0003847,MONDO:0019117 subclass +MONDO:0007440 MAFD1 MONDO MONDO:0001866 excluded_subClassOf +MONDO:0007440 MAFD1 MONDO MONDO:0002320,MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass MONDO:0007440 MAFD1 OMIM OMIM:125480 one_to_one MONDO:0007441 dentinogenesis imperfecta type 2 GARD GARD:0012796 one_to_one MONDO:0007441 dentinogenesis imperfecta type 2 ICD10 ICD10:K00.5 inexact @@ -42568,7 +42718,8 @@ MONDO:0007473 Duane retraction syndrome GARD GARD:0006288 one_to_one MONDO:0007473 Duane retraction syndrome ICD10 ICD10:H50.8,ICD10:H50.81 inexact MONDO:0007473 Duane retraction syndrome ICD9 ICD9:378.71 one_to_one MONDO:0007473 Duane retraction syndrome MESH MESH:D004370 one_to_one -MONDO:0007473 Duane retraction syndrome MONDO MONDO:0003432,MONDO:0015083,MONDO:0020127,MONDO:0020132,MONDO:0020210,MONDO:0020253 subclass +MONDO:0007473 Duane retraction syndrome MONDO MONDO:0003432 excluded_subClassOf +MONDO:0007473 Duane retraction syndrome MONDO MONDO:0002254,MONDO:0015083,MONDO:0020127,MONDO:0020132,MONDO:0020253 subclass MONDO:0007473 Duane retraction syndrome MedDRA MedDRA:10013799 one_to_one MONDO:0007473 Duane retraction syndrome NCIT NCIT:C84678 one_to_one MONDO:0007473 Duane retraction syndrome OMIMPS OMIMPS:126800 one_to_one @@ -42664,7 +42815,7 @@ MONDO:0007486 hereditary benign intraepithelial dyskeratosis OMIM OMIM:127600 on MONDO:0007486 hereditary benign intraepithelial dyskeratosis Orphanet Orphanet:352657 one_to_one MONDO:0007486 hereditary benign intraepithelial dyskeratosis SCTID SCTID:400014002 one_to_one MONDO:0007486 hereditary benign intraepithelial dyskeratosis UMLS UMLS:C0265966 one_to_one -MONDO:0007487 dyslexia, susceptibility to, 1 MONDO MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass +MONDO:0007487 dyslexia, susceptibility to, 1 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass MONDO:0007487 dyslexia, susceptibility to, 1 OMIM OMIM:127700 one_to_one MONDO:0007487 dyslexia, susceptibility to, 1 http http://identifiers.org/hgnc/21493 disease_has_basis_in_dysfunction_of MONDO:0007488 Lewy body dementia COHD COHD:380701 one_to_one @@ -42984,7 +43135,7 @@ MONDO:0007538 hypocalcified amelogenesis imperfecta SCTID SCTID:109471001 one_to MONDO:0007538 hypocalcified amelogenesis imperfecta http http://identifiers.org/hgnc/24797 disease_has_basis_in_dysfunction_of MONDO:0007539 encephalopathy, recurrent, of childhood GARD GARD:0003949 one_to_one MONDO:0007539 encephalopathy, recurrent, of childhood MESH MESH:C536407 one_to_one -MONDO:0007539 encephalopathy, recurrent, of childhood MONDO MONDO:0003847,MONDO:0005560,MONDO:0019117 subclass +MONDO:0007539 encephalopathy, recurrent, of childhood MONDO MONDO:0002320,MONDO:0003847,MONDO:0005560,MONDO:0019117 subclass MONDO:0007539 encephalopathy, recurrent, of childhood OMIM OMIM:130950 one_to_one MONDO:0007540 multiple endocrine neoplasia type 1 COHD COHD:28127 one_to_one MONDO:0007540 multiple endocrine neoplasia type 1 DOID DOID:10017 one_to_one @@ -43007,7 +43158,8 @@ MONDO:0007542 Camurati-Engelmann disease GARD GARD:0001072 one_to_one MONDO:0007542 Camurati-Engelmann disease HP HP:0011001 disease_has_feature MONDO:0007542 Camurati-Engelmann disease ICD10 ICD10:Q78.3 one_to_one MONDO:0007542 Camurati-Engelmann disease ICD9 ICD9:756.59 inexact -MONDO:0007542 Camurati-Engelmann disease MONDO MONDO:0002254,MONDO:0002933,MONDO:0019703 subclass +MONDO:0007542 Camurati-Engelmann disease MONDO MONDO:0002933 excluded_subClassOf +MONDO:0007542 Camurati-Engelmann disease MONDO MONDO:0002254,MONDO:0019703 subclass MONDO:0007542 Camurati-Engelmann disease NCIT NCIT:C84610 one_to_one MONDO:0007542 Camurati-Engelmann disease OMIM OMIM:131300 one_to_one MONDO:0007542 Camurati-Engelmann disease Orphanet Orphanet:1328 one_to_one @@ -43145,7 +43297,7 @@ MONDO:0007562 multiple epiphyseal dysplasia, Beighton type Orphanet Orphanet:166 MONDO:0007562 multiple epiphyseal dysplasia, Beighton type SCTID SCTID:719689005 one_to_one MONDO:0007563 epistaxis, hereditary MESH MESH:C562751 one_to_one MONDO:0007563 epistaxis, hereditary MONDO MONDO:0021152 has_modifier -MONDO:0007563 epistaxis, hereditary MONDO MONDO:0003847,MONDO:0005305,MONDO:0015510,MONDO:0019117,MONDO:0020015 subclass +MONDO:0007563 epistaxis, hereditary MONDO MONDO:0002320,MONDO:0003847,MONDO:0005305,MONDO:0019117,MONDO:0020015 subclass MONDO:0007563 epistaxis, hereditary OMIM OMIM:132500 one_to_one MONDO:0007563 epistaxis, hereditary SCTID SCTID:232358004 one_to_one MONDO:0007563 epistaxis, hereditary UMLS UMLS:C0339819 one_to_one @@ -43489,7 +43641,7 @@ MONDO:0007621 floating-Harbor syndrome GARD GARD:0006455 one_to_one MONDO:0007621 floating-Harbor syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007621 floating-Harbor syndrome ICD9 ICD9:759.89 inexact MONDO:0007621 floating-Harbor syndrome MESH MESH:C537062 one_to_one -MONDO:0007621 floating-Harbor syndrome MONDO MONDO:0015159,MONDO:0015329,MONDO:0015983 subclass +MONDO:0007621 floating-Harbor syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015329,MONDO:0015983 subclass MONDO:0007621 floating-Harbor syndrome OMIM OMIM:136140 one_to_one MONDO:0007621 floating-Harbor syndrome Orphanet Orphanet:2044 one_to_one MONDO:0007621 floating-Harbor syndrome SCTID SCTID:312214005 one_to_one @@ -43505,7 +43657,7 @@ MONDO:0007623 flushing of ears and somnolence UMLS UMLS:C1851055 one_to_one MONDO:0007624 Flynn-Aird syndrome GARD GARD:0002347 one_to_one MONDO:0007624 Flynn-Aird syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007624 Flynn-Aird syndrome MESH MESH:C537066 one_to_one -MONDO:0007624 Flynn-Aird syndrome MONDO MONDO:0019117,MONDO:0019303 subclass +MONDO:0007624 Flynn-Aird syndrome MONDO MONDO:0002320,MONDO:0019117,MONDO:0019303 subclass MONDO:0007624 Flynn-Aird syndrome OMIM OMIM:136300 one_to_one MONDO:0007624 Flynn-Aird syndrome Orphanet Orphanet:2047 one_to_one MONDO:0007624 Flynn-Aird syndrome SCTID SCTID:239056006 one_to_one @@ -43518,7 +43670,7 @@ MONDO:0007626 familial congenital palsy of trochlear nerve GARD GARD:0010355 one MONDO:0007626 familial congenital palsy of trochlear nerve ICD10 ICD10:H49.1 inexact MONDO:0007626 familial congenital palsy of trochlear nerve MESH MESH:C565007 one_to_one MONDO:0007626 familial congenital palsy of trochlear nerve MONDO MONDO:0021152 has_modifier -MONDO:0007626 familial congenital palsy of trochlear nerve MONDO MONDO:0001146,MONDO:0003847,MONDO:0015083,MONDO:0020256 subclass +MONDO:0007626 familial congenital palsy of trochlear nerve MONDO MONDO:0001146,MONDO:0002320,MONDO:0003847,MONDO:0015083,MONDO:0020256 subclass MONDO:0007626 familial congenital palsy of trochlear nerve OMIM OMIM:136480 one_to_one MONDO:0007626 familial congenital palsy of trochlear nerve Orphanet Orphanet:91498 one_to_one MONDO:0007626 familial congenital palsy of trochlear nerve UMLS UMLS:C1850996 one_to_one @@ -43745,7 +43897,7 @@ MONDO:0007661 Tourette syndrome HP HP:0100034 disease_has_feature MONDO:0007661 Tourette syndrome ICD10 ICD10:F95.2 one_to_one MONDO:0007661 Tourette syndrome ICD9 ICD9:307.23 one_to_one MONDO:0007661 Tourette syndrome MESH MESH:D005879 one_to_one -MONDO:0007661 Tourette syndrome MONDO MONDO:0002254,MONDO:0002420,MONDO:0003847,MONDO:0015957 subclass +MONDO:0007661 Tourette syndrome MONDO MONDO:0002254,MONDO:0002320,MONDO:0002420,MONDO:0003847,MONDO:0015957 subclass MONDO:0007661 Tourette syndrome NCIT NCIT:C35078 one_to_one MONDO:0007661 Tourette syndrome OMIM OMIM:137580 one_to_one MONDO:0007661 Tourette syndrome SCTID SCTID:5158005 one_to_one @@ -43911,7 +44063,7 @@ MONDO:0007688 Myhre syndrome GARD GARD:0002572 one_to_one MONDO:0007688 Myhre syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007688 Myhre syndrome ICD9 ICD9:759.89 inexact MONDO:0007688 Myhre syndrome MESH MESH:C537620 one_to_one -MONDO:0007688 Myhre syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019695 subclass +MONDO:0007688 Myhre syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019695 subclass MONDO:0007688 Myhre syndrome NCIT NCIT:C123815 one_to_one MONDO:0007688 Myhre syndrome OMIM OMIM:139210 one_to_one MONDO:0007688 Myhre syndrome Orphanet Orphanet:2588 one_to_one @@ -44102,7 +44254,7 @@ MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 DOID DOI MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 ICD10 ICD10:D56.0 inexact MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 ICD9 ICD9:282.49 inexact MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MESH MESH:C563050 one_to_one -MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO MONDO:0015983,MONDO:0016513,MONDO:0016894,MONDO:0019050 subclass +MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 MONDO MONDO:0002320,MONDO:0015983,MONDO:0016513,MONDO:0016894,MONDO:0019050 subclass MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 OMIM OMIM:141750 one_to_one MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 Orphanet Orphanet:98791 one_to_one MONDO:0007716 alpha thalassemia-intellectual disability syndrome type 1 SCTID SCTID:277918006 one_to_one @@ -44140,7 +44292,7 @@ MONDO:0007723 Hirschsprung disease, susceptibility to, 1 http http://identifiers MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome GARD GARD:0005566 one_to_one MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome MESH MESH:C536705 one_to_one -MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome OMIM OMIM:142625 one_to_one MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome Orphanet Orphanet:2156 one_to_one MONDO:0007724 hirsutism-skeletal dysplasia-intellectual disability syndrome UMLS UMLS:C0795976 one_to_one @@ -44333,7 +44485,7 @@ MONDO:0007753 Frey syndrome DOID DOID:11599 one_to_one MONDO:0007753 Frey syndrome EFO EFO:1000940 one_to_one MONDO:0007753 Frey syndrome GARD GARD:0006467 one_to_one MONDO:0007753 Frey syndrome MESH MESH:D013547 one_to_one -MONDO:0007753 Frey syndrome MONDO MONDO:0003847,MONDO:0018557 subclass +MONDO:0007753 Frey syndrome MONDO MONDO:0002320,MONDO:0003847,MONDO:0018557 subclass MONDO:0007753 Frey syndrome OMIM OMIM:144100 one_to_one MONDO:0007753 Frey syndrome SCTID SCTID:238758008 one_to_one MONDO:0007754 HYPRPP MESH MESH:C563185 one_to_one @@ -44517,7 +44669,7 @@ MONDO:0007783 malignant hyperthermia, susceptibility to, 1 UMLS UMLS:CN031421 on MONDO:0007783 malignant hyperthermia, susceptibility to, 1 http http://identifiers.org/hgnc/10483 disease_has_basis_in_dysfunction_of MONDO:0007784 selective pituitary resistance to thyroid hormone ICD10 ICD10:E05.8 inexact MONDO:0007784 selective pituitary resistance to thyroid hormone MESH MESH:C564154 one_to_one -MONDO:0007784 selective pituitary resistance to thyroid hormone MONDO MONDO:0001328,MONDO:0015893,MONDO:0015894 subclass +MONDO:0007784 selective pituitary resistance to thyroid hormone MONDO MONDO:0001328,MONDO:0015894 subclass MONDO:0007784 selective pituitary resistance to thyroid hormone OMIM OMIM:145650 one_to_one MONDO:0007784 selective pituitary resistance to thyroid hormone Orphanet Orphanet:165994 one_to_one MONDO:0007784 selective pituitary resistance to thyroid hormone UMLS UMLS:C1840364 one_to_one @@ -44658,7 +44810,7 @@ MONDO:0007804 Pallister-hall syndrome GARD GARD:0007305 one_to_one MONDO:0007804 Pallister-hall syndrome ICD10 ICD10:D33.0 inexact MONDO:0007804 Pallister-hall syndrome ICD9 ICD9:759.89 inexact MONDO:0007804 Pallister-hall syndrome MESH MESH:D054975 one_to_one -MONDO:0007804 Pallister-hall syndrome MONDO MONDO:0000839,MONDO:0015246,MONDO:0017434,MONDO:0019721,MONDO:0019827,MONDO:0043007 subclass +MONDO:0007804 Pallister-hall syndrome MONDO MONDO:0015246,MONDO:0017434,MONDO:0019721,MONDO:0019827,MONDO:0043007 subclass MONDO:0007804 Pallister-hall syndrome NCIT NCIT:C84987 one_to_one MONDO:0007804 Pallister-hall syndrome OMIM OMIM:146510 one_to_one MONDO:0007804 Pallister-hall syndrome Orphanet Orphanet:672 one_to_one @@ -44839,14 +44991,14 @@ MONDO:0007836 IVIC syndrome http http://identifiers.org/hgnc/15924 disease_has_b MONDO:0007837 Johnson neuroectodermal syndrome GARD GARD:0000378 one_to_one MONDO:0007837 Johnson neuroectodermal syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007837 Johnson neuroectodermal syndrome MESH MESH:C535882 one_to_one -MONDO:0007837 Johnson neuroectodermal syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019287,MONDO:0043005 subclass +MONDO:0007837 Johnson neuroectodermal syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019287,MONDO:0043005 subclass MONDO:0007837 Johnson neuroectodermal syndrome OMIM OMIM:147770 one_to_one MONDO:0007837 Johnson neuroectodermal syndrome Orphanet Orphanet:2316 one_to_one MONDO:0007837 Johnson neuroectodermal syndrome SCTID SCTID:721584005 one_to_one MONDO:0007837 Johnson neuroectodermal syndrome UMLS UMLS:C0796002 one_to_one MONDO:0007838 Jacobsen syndrome GARD GARD:0000307 one_to_one MONDO:0007838 Jacobsen syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0007838 Jacobsen syndrome MONDO MONDO:0002254,MONDO:0016910,MONDO:0018795,MONDO:0020169 subclass +MONDO:0007838 Jacobsen syndrome MONDO MONDO:0002254,MONDO:0002320,MONDO:0016910,MONDO:0018795,MONDO:0020169 subclass MONDO:0007838 Jacobsen syndrome NCIT NCIT:C75457 one_to_one MONDO:0007838 Jacobsen syndrome OMIM OMIM:147791 one_to_one MONDO:0007838 Jacobsen syndrome Orphanet Orphanet:2308 one_to_one @@ -44902,7 +45054,7 @@ MONDO:0007846 KBG syndrome HP HP:0001249 disease_has_feature MONDO:0007846 KBG syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007846 KBG syndrome ICD9 ICD9:759.89 inexact MONDO:0007846 KBG syndrome MESH MESH:C537015 one_to_one -MONDO:0007846 KBG syndrome MONDO MONDO:0015159,MONDO:0015336,MONDO:0015983 subclass +MONDO:0007846 KBG syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015336,MONDO:0015983 subclass MONDO:0007846 KBG syndrome OMIM OMIM:148050 one_to_one MONDO:0007846 KBG syndrome Orphanet Orphanet:2332 one_to_one MONDO:0007846 KBG syndrome SCTID SCTID:711156009 one_to_one @@ -44914,7 +45066,7 @@ MONDO:0007848 autosomal dominant keratitis GARD GARD:0003089 one_to_one MONDO:0007848 autosomal dominant keratitis HP HP:0000006 has_modifier MONDO:0007848 autosomal dominant keratitis ICD10 ICD10:H16.8 one_to_one MONDO:0007848 autosomal dominant keratitis MESH MESH:C537022 one_to_one -MONDO:0007848 autosomal dominant keratitis MONDO MONDO:0000426,MONDO:0003085,MONDO:0018102 subclass +MONDO:0007848 autosomal dominant keratitis MONDO MONDO:0000426,MONDO:0002320,MONDO:0003085,MONDO:0018102 subclass MONDO:0007848 autosomal dominant keratitis OMIM OMIM:148190 one_to_one MONDO:0007848 autosomal dominant keratitis Orphanet Orphanet:2334 one_to_one MONDO:0007848 autosomal dominant keratitis SCTID SCTID:715339004 one_to_one @@ -45062,7 +45214,7 @@ MONDO:0007870 labia minora, incomplete adhesion of MONDO MONDO:0003847 subclass MONDO:0007870 labia minora, incomplete adhesion of OMIM OMIM:149600 one_to_one MONDO:0007871 familial congenital nasolacrimal duct obstruction ICD10 ICD10:Q10.5 one_to_one MONDO:0007871 familial congenital nasolacrimal duct obstruction MESH MESH:C566703 one_to_one -MONDO:0007871 familial congenital nasolacrimal duct obstruction MONDO MONDO:0015503,MONDO:0018562,MONDO:0020195 subclass +MONDO:0007871 familial congenital nasolacrimal duct obstruction MONDO MONDO:0002320,MONDO:0015503,MONDO:0018562,MONDO:0020195 subclass MONDO:0007871 familial congenital nasolacrimal duct obstruction OMIM OMIM:149700 one_to_one MONDO:0007871 familial congenital nasolacrimal duct obstruction Orphanet Orphanet:451612 one_to_one MONDO:0007871 familial congenital nasolacrimal duct obstruction http http://identifiers.org/hgnc/5950 disease_has_basis_in_dysfunction_of @@ -45087,7 +45239,7 @@ MONDO:0007874 trichorhinophalangeal syndrome type II HP HP:0000219,HP:0002209,HP MONDO:0007874 trichorhinophalangeal syndrome type II ICD10 ICD10:Q87.8 inexact MONDO:0007874 trichorhinophalangeal syndrome type II ICD9 ICD9:759.89 inexact MONDO:0007874 trichorhinophalangeal syndrome type II MESH MESH:D015826 one_to_one -MONDO:0007874 trichorhinophalangeal syndrome type II MONDO MONDO:0000426,MONDO:0015159,MONDO:0015983,MONDO:0016907,MONDO:0017951,MONDO:0043005 subclass +MONDO:0007874 trichorhinophalangeal syndrome type II MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016907,MONDO:0017951,MONDO:0043005 subclass MONDO:0007874 trichorhinophalangeal syndrome type II MedDRA MedDRA:10050638 one_to_one MONDO:0007874 trichorhinophalangeal syndrome type II NCIT NCIT:C75118 one_to_one MONDO:0007874 trichorhinophalangeal syndrome type II OMIM OMIM:150230 one_to_one @@ -45221,7 +45373,7 @@ MONDO:0007891 familial generalized lentiginosis UMLS UMLS:C3492944,UMLS:CN201466 MONDO:0007892 Lenz-Majewski hyperostotic dwarfism GARD GARD:0003223 one_to_one MONDO:0007892 Lenz-Majewski hyperostotic dwarfism ICD10 ICD10:Q87.1 inexact MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MESH MESH:C537115 one_to_one -MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MONDO MONDO:0015159,MONDO:0015983,MONDO:0019703 subclass +MONDO:0007892 Lenz-Majewski hyperostotic dwarfism MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019703 subclass MONDO:0007892 Lenz-Majewski hyperostotic dwarfism OMIM OMIM:151050 one_to_one MONDO:0007892 Lenz-Majewski hyperostotic dwarfism Orphanet Orphanet:2658 one_to_one MONDO:0007892 Lenz-Majewski hyperostotic dwarfism http http://identifiers.org/hgnc/9587 disease_has_basis_in_dysfunction_of @@ -45390,7 +45542,8 @@ MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or men MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation GARD GARD:0003622 one_to_one MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation ICD10 ICD10:Q87.8 inexact MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation MESH MESH:C537711 one_to_one -MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation MONDO MONDO:0015984,MONDO:0016229,MONDO:0017119,MONDO:0018722,MONDO:0019118,MONDO:0019520,MONDO:0043218 subclass +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation MONDO MONDO:0019118 disease_has_feature +MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation MONDO MONDO:0017119,MONDO:0018722,MONDO:0019118,MONDO:0019313,MONDO:0019520 subclass MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation OMIM OMIM:152950 one_to_one MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation Orphanet Orphanet:2526 one_to_one MONDO:0007918 microcephaly with or without chorioretinopathy, lymphedema, or mental retardation UMLS UMLS:C1835265 one_to_one @@ -45438,7 +45591,7 @@ MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome DOID DOID:0050657 one_to_one MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome GARD GARD:0005887 one_to_one MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome ICD10 ICD10:Q87.8 inexact MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome ICD9 ICD9:759.6 inexact -MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO MONDO:0000426,MONDO:0015159,MONDO:0015185,MONDO:0015948,MONDO:0015983,MONDO:0016235,MONDO:0017128,MONDO:0017623,MONDO:0018188,MONDO:0018729,MONDO:0019716,MONDO:0020036,MONDO:0021211,MONDO:0043005,MONDO:0043218 subclass +MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015185,MONDO:0015948,MONDO:0015983,MONDO:0016235,MONDO:0017128,MONDO:0017623,MONDO:0018188,MONDO:0018729,MONDO:0019716,MONDO:0020036,MONDO:0021211,MONDO:0043005,MONDO:0043218 subclass MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome NCIT NCIT:C2962 has_finding MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome NCIT NCIT:C3939 one_to_one MONDO:0007924 Bannayan-Riley-Ruvalcaba syndrome OMIM OMIM:153480 one_to_one @@ -45505,7 +45658,7 @@ MONDO:0007931 best vitelliform macular dystrophy Orphanet Orphanet:1243 one_to_o MONDO:0007931 best vitelliform macular dystrophy http http://identifiers.org/hgnc/12703 disease_has_basis_in_dysfunction_of MONDO:0007932 age related macular degeneration 2 DOID DOID:0110015 one_to_one MONDO:0007932 age related macular degeneration 2 MESH MESH:C562479 one_to_one -MONDO:0007932 age related macular degeneration 2 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0007932 age related macular degeneration 2 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0007932 age related macular degeneration 2 OMIM OMIM:153800 one_to_one MONDO:0007932 age related macular degeneration 2 UMLS UMLS:C3495438 one_to_one MONDO:0007932 age related macular degeneration 2 http http://identifiers.org/hgnc/34 disease_has_basis_in_dysfunction_of @@ -45593,7 +45746,7 @@ MONDO:0007947 Marfan syndrome GARD GARD:0006975 one_to_one MONDO:0007947 Marfan syndrome ICD10 ICD10:Q87.4,ICD10:Q87.40 inexact MONDO:0007947 Marfan syndrome ICD9 ICD9:759.82 one_to_one MONDO:0007947 Marfan syndrome MESH MESH:D008382 one_to_one -MONDO:0007947 Marfan syndrome MONDO MONDO:0000426,MONDO:0015332,MONDO:0017310,MONDO:0017311,MONDO:0020208,MONDO:0020211,MONDO:0020236,MONDO:0020272,MONDO:0043218 subclass +MONDO:0007947 Marfan syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015332,MONDO:0017310,MONDO:0017311,MONDO:0020208,MONDO:0020211,MONDO:0020236,MONDO:0020272,MONDO:0043218 subclass MONDO:0007947 Marfan syndrome MedDRA MedDRA:10026829 one_to_one MONDO:0007947 Marfan syndrome NCIT NCIT:C34807 one_to_one MONDO:0007947 Marfan syndrome OMIM OMIM:154700 one_to_one @@ -45738,7 +45891,7 @@ MONDO:0007966 susceptibility to uveal melanoma MONDO MONDO:0006486 subclass MONDO:0007966 susceptibility to uveal melanoma OMIM OMIM:155720 one_to_one MONDO:0007967 melanoma and neural system tumor syndrome GARD GARD:0008468 one_to_one MONDO:0007967 melanoma and neural system tumor syndrome MESH MESH:C536149 one_to_one -MONDO:0007967 melanoma and neural system tumor syndrome MONDO MONDO:0005872,MONDO:0015356,MONDO:0016756,MONDO:0018961,MONDO:0019117,MONDO:0020036,MONDO:0021069 subclass +MONDO:0007967 melanoma and neural system tumor syndrome MONDO MONDO:0002320,MONDO:0005872,MONDO:0015356,MONDO:0016756,MONDO:0018961,MONDO:0019117,MONDO:0020036,MONDO:0021069 subclass MONDO:0007967 melanoma and neural system tumor syndrome OMIM OMIM:155755 one_to_one MONDO:0007967 melanoma and neural system tumor syndrome Orphanet Orphanet:252206 one_to_one MONDO:0007967 melanoma and neural system tumor syndrome SCTID SCTID:717968005 one_to_one @@ -45751,7 +45904,7 @@ MONDO:0007969 Melkersson-Rosenthal syndrome EFO EFO:1001039 one_to_one MONDO:0007969 Melkersson-Rosenthal syndrome GARD GARD:0007010 one_to_one MONDO:0007969 Melkersson-Rosenthal syndrome ICD10 ICD10:G51.2 one_to_one MONDO:0007969 Melkersson-Rosenthal syndrome MESH MESH:D008556 one_to_one -MONDO:0007969 Melkersson-Rosenthal syndrome MONDO MONDO:0002098,MONDO:0002102,MONDO:0002254,MONDO:0015615,MONDO:0019043,MONDO:0019298,MONDO:0020127 subclass +MONDO:0007969 Melkersson-Rosenthal syndrome MONDO MONDO:0002098,MONDO:0002102,MONDO:0002254,MONDO:0002320,MONDO:0015615,MONDO:0019043,MONDO:0019298,MONDO:0020127 subclass MONDO:0007969 Melkersson-Rosenthal syndrome MedDRA MedDRA:10027166 one_to_one MONDO:0007969 Melkersson-Rosenthal syndrome NCIT NCIT:C84886 one_to_one MONDO:0007969 Melkersson-Rosenthal syndrome OMIM OMIM:155900 one_to_one @@ -45799,7 +45952,7 @@ MONDO:0007974 intellectual disability, autosomal dominant 1 NCIT NCIT:C141424 on MONDO:0007974 intellectual disability, autosomal dominant 1 OMIM OMIM:156200 one_to_one MONDO:0007974 intellectual disability, autosomal dominant 1 http http://identifiers.org/hgnc/20444 disease_has_basis_in_dysfunction_of MONDO:0007975 meralgia paraesthetica, familial MESH MESH:C563590 one_to_one -MONDO:0007975 meralgia paraesthetica, familial MONDO MONDO:0003847,MONDO:0020127,MONDO:0023757 subclass +MONDO:0007975 meralgia paraesthetica, familial MONDO MONDO:0002320,MONDO:0003847,MONDO:0020127,MONDO:0023757 subclass MONDO:0007975 meralgia paraesthetica, familial OMIM OMIM:156220 one_to_one MONDO:0007975 meralgia paraesthetica, familial UMLS UMLS:C1835026 one_to_one MONDO:0007976 mesomelic dwarfism of hypoplastic tibia and radius type GARD GARD:0007313 one_to_one @@ -46117,7 +46270,7 @@ MONDO:0008022 muscle cramps, familial OMIM OMIM:158400 one_to_one MONDO:0008022 muscle cramps, familial UMLS UMLS:C1834708 one_to_one MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome GARD GARD:0002417 one_to_one MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome ICD9 ICD9:728.2 inexact -MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome MONDO MONDO:0000557,MONDO:0004884,MONDO:0015952,MONDO:0015957,MONDO:0015960,MONDO:0020240,MONDO:0022687 subclass +MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome MONDO MONDO:0000557,MONDO:0004884,MONDO:0015957,MONDO:0015960,MONDO:0020240,MONDO:0022687,MONDO:0024237 subclass MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome OMIM OMIM:158500 one_to_one MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome Orphanet Orphanet:2579 one_to_one MONDO:0008023 muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome SCTID SCTID:237611007 one_to_one @@ -46269,7 +46422,7 @@ MONDO:0008045 spinal muscular atrophy-progressive myoclonic epilepsy syndrome ht MONDO:0008046 autosomal dominant myoglobinuria HP HP:0000006 has_modifier MONDO:0008046 autosomal dominant myoglobinuria ICD10 ICD10:R82.1 inexact MONDO:0008046 autosomal dominant myoglobinuria MESH MESH:C563546 one_to_one -MONDO:0008046 autosomal dominant myoglobinuria MONDO MONDO:0000426,MONDO:0000866,MONDO:0016117,MONDO:0019602 subclass +MONDO:0008046 autosomal dominant myoglobinuria MONDO MONDO:0000426,MONDO:0000866,MONDO:0002320,MONDO:0016117,MONDO:0019602 subclass MONDO:0008046 autosomal dominant myoglobinuria OMIM OMIM:160010 one_to_one MONDO:0008046 autosomal dominant myoglobinuria Orphanet Orphanet:99846 one_to_one MONDO:0008046 autosomal dominant myoglobinuria UMLS UMLS:C1834567 one_to_one @@ -46284,7 +46437,7 @@ MONDO:0008047 episodic ataxia type 1 http http://identifiers.org/hgnc/6218 disea MONDO:0008048 autosomal dominant centronuclear myopathy GARD GARD:0012719 one_to_one MONDO:0008048 autosomal dominant centronuclear myopathy HP HP:0000006 has_modifier MONDO:0008048 autosomal dominant centronuclear myopathy ICD10 ICD10:G71.2 inexact -MONDO:0008048 autosomal dominant centronuclear myopathy MONDO MONDO:0000426,MONDO:0002921,MONDO:0018947 subclass +MONDO:0008048 autosomal dominant centronuclear myopathy MONDO MONDO:0000426,MONDO:0002320,MONDO:0002921,MONDO:0018947 subclass MONDO:0008048 autosomal dominant centronuclear myopathy NCIT NCIT:C126689 one_to_one MONDO:0008048 autosomal dominant centronuclear myopathy OMIM OMIM:160150 one_to_one MONDO:0008048 autosomal dominant centronuclear myopathy Orphanet Orphanet:169189 one_to_one @@ -46312,7 +46465,7 @@ MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans MOND MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans OMIM OMIM:160570 one_to_one MONDO:0008052 myopathy with storage of glycoproteins and Glycosaminoglycans UMLS UMLS:C1834532 one_to_one MONDO:0008053 MYP2 MESH MESH:C563541 one_to_one -MONDO:0008053 MYP2 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0008053 MYP2 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0008053 MYP2 OMIM OMIM:160700 one_to_one MONDO:0008053 MYP2 UMLS UMLS:C1834531 one_to_one MONDO:0008054 juvenile dermatomyositis DOID DOID:14203 one_to_one @@ -46337,7 +46490,7 @@ MONDO:0008056 myotonic dystrophy type 1 DOID DOID:11722 one_to_one MONDO:0008056 myotonic dystrophy type 1 GARD GARD:0008310 one_to_one MONDO:0008056 myotonic dystrophy type 1 ICD10 ICD10:G71.1,ICD10:G71.11 inexact MONDO:0008056 myotonic dystrophy type 1 ICD9 ICD9:359.21 one_to_one -MONDO:0008056 myotonic dystrophy type 1 MONDO MONDO:0015906,MONDO:0016107,MONDO:0016329,MONDO:0017133,MONDO:0020016,MONDO:0020169,MONDO:0020232,MONDO:0020259 subclass +MONDO:0008056 myotonic dystrophy type 1 MONDO MONDO:0002320,MONDO:0015906,MONDO:0016107,MONDO:0016329,MONDO:0017133,MONDO:0020016,MONDO:0020169,MONDO:0020232,MONDO:0020259 subclass MONDO:0008056 myotonic dystrophy type 1 NCIT NCIT:C84679 one_to_one MONDO:0008056 myotonic dystrophy type 1 OMIM OMIM:160900 one_to_one MONDO:0008056 myotonic dystrophy type 1 Orphanet Orphanet:273 one_to_one @@ -46377,7 +46530,7 @@ MONDO:0008061 nail-patella syndrome GARD GARD:0007160 one_to_one MONDO:0008061 nail-patella syndrome ICD10 ICD10:Q87.2 inexact MONDO:0008061 nail-patella syndrome ICD9 ICD9:759.89 inexact MONDO:0008061 nail-patella syndrome MESH MESH:D009261 one_to_one -MONDO:0008061 nail-patella syndrome MONDO MONDO:0000426,MONDO:0015163,MONDO:0019285,MONDO:0019712,MONDO:0020274 subclass +MONDO:0008061 nail-patella syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015163,MONDO:0019285,MONDO:0019712,MONDO:0020274 subclass MONDO:0008061 nail-patella syndrome MedDRA MedDRA:10063431 one_to_one MONDO:0008061 nail-patella syndrome NCIT NCIT:C75120 one_to_one MONDO:0008061 nail-patella syndrome OMIM OMIM:161200 one_to_one @@ -46448,7 +46601,7 @@ MONDO:0008075 neurofibromatosis type 3 GARD GARD:0004768 one_to_one MONDO:0008075 neurofibromatosis type 3 ICD10 ICD10:Q85.0,ICD10:Q85.03 inexact MONDO:0008075 neurofibromatosis type 3 ICD9 ICD9:237.73 one_to_one MONDO:0008075 neurofibromatosis type 3 ICDO ICDO:9560/1 one_to_one -MONDO:0008075 neurofibromatosis type 3 MONDO MONDO:0002546,MONDO:0015950,MONDO:0019289,MONDO:0020063,MONDO:0021061,MONDO:0021440 subclass +MONDO:0008075 neurofibromatosis type 3 MONDO MONDO:0002546,MONDO:0015950,MONDO:0019289,MONDO:0020063,MONDO:0021061 subclass MONDO:0008075 neurofibromatosis type 3 NCIT NCIT:C6557 one_to_one MONDO:0008075 neurofibromatosis type 3 OMIMPS OMIMPS:162091 one_to_one MONDO:0008075 neurofibromatosis type 3 Orphanet Orphanet:93921 one_to_one @@ -46457,7 +46610,7 @@ MONDO:0008076 amyotrophic neuralgia DOID DOID:10383 one_to_one MONDO:0008076 amyotrophic neuralgia GARD GARD:0003955 one_to_one MONDO:0008076 amyotrophic neuralgia ICD10 ICD10:G54.5 inexact MONDO:0008076 amyotrophic neuralgia ICD9 ICD9:353.5 one_to_one -MONDO:0008076 amyotrophic neuralgia MONDO MONDO:0006683,MONDO:0015918,MONDO:0017362 subclass +MONDO:0008076 amyotrophic neuralgia MONDO MONDO:0006683,MONDO:0017362 subclass MONDO:0008076 amyotrophic neuralgia OMIM OMIM:162100 one_to_one MONDO:0008076 amyotrophic neuralgia SCTID SCTID:26609002 one_to_one MONDO:0008076 amyotrophic neuralgia http http://identifiers.org/hgnc/7323 disease_has_basis_in_dysfunction_of @@ -46516,7 +46669,7 @@ MONDO:0008087 hereditary neuropathy with liability to pressure palsies DOID DOID MONDO:0008087 hereditary neuropathy with liability to pressure palsies GARD GARD:0005221 one_to_one MONDO:0008087 hereditary neuropathy with liability to pressure palsies ICD10 ICD10:G60.0 inexact MONDO:0008087 hereditary neuropathy with liability to pressure palsies MESH MESH:C536965 one_to_one -MONDO:0008087 hereditary neuropathy with liability to pressure palsies MONDO MONDO:0015359,MONDO:0016895 subclass +MONDO:0008087 hereditary neuropathy with liability to pressure palsies MONDO MONDO:0002320,MONDO:0015359,MONDO:0016895 subclass MONDO:0008087 hereditary neuropathy with liability to pressure palsies MedDRA MedDRA:10069382 one_to_one MONDO:0008087 hereditary neuropathy with liability to pressure palsies OMIM OMIM:162500 one_to_one MONDO:0008087 hereditary neuropathy with liability to pressure palsies Orphanet Orphanet:640 one_to_one @@ -46634,7 +46787,7 @@ MONDO:0008106 NYS2 MONDO MONDO:0005712 subclass MONDO:0008106 NYS2 OMIM OMIM:164100 one_to_one MONDO:0008107 nystagmus, hereditary vertical GARD GARD:0009604 one_to_one MONDO:0008107 nystagmus, hereditary vertical MESH MESH:C537857 one_to_one -MONDO:0008107 nystagmus, hereditary vertical MONDO MONDO:0003847,MONDO:0005712 subclass +MONDO:0008107 nystagmus, hereditary vertical MONDO MONDO:0002320,MONDO:0003847,MONDO:0005712 subclass MONDO:0008107 nystagmus, hereditary vertical OMIM OMIM:164150 one_to_one MONDO:0008107 nystagmus, hereditary vertical UMLS UMLS:C1834078 one_to_one MONDO:0008108 oculocerebrocutaneous syndrome GARD GARD:0000106 one_to_one @@ -46690,7 +46843,7 @@ MONDO:0008114 obsessive-compulsive disorder EFO EFO:0004242 one_to_one MONDO:0008114 obsessive-compulsive disorder ICD10 ICD10:F42 one_to_one MONDO:0008114 obsessive-compulsive disorder ICD9 ICD9:300.3 one_to_one MONDO:0008114 obsessive-compulsive disorder MESH MESH:D009771 one_to_one -MONDO:0008114 obsessive-compulsive disorder MONDO MONDO:0003847,MONDO:0005618,MONDO:0019117 subclass +MONDO:0008114 obsessive-compulsive disorder MONDO MONDO:0002320,MONDO:0003847,MONDO:0005618,MONDO:0019117 subclass MONDO:0008114 obsessive-compulsive disorder NCIT NCIT:C88411 one_to_one MONDO:0008114 obsessive-compulsive disorder OMIM OMIM:164230 one_to_one MONDO:0008114 obsessive-compulsive disorder SCTID SCTID:191736004 one_to_one @@ -46714,13 +46867,13 @@ MONDO:0008116 oculopharyngeal muscular dystrophy Orphanet Orphanet:270 one_to_on MONDO:0008116 oculopharyngeal muscular dystrophy SCTID SCTID:77097004 one_to_one MONDO:0008116 oculopharyngeal muscular dystrophy UMLS UMLS:C0270952 one_to_one MONDO:0008116 oculopharyngeal muscular dystrophy http http://identifiers.org/hgnc/8565 disease_has_basis_in_dysfunction_of -MONDO:0008117 Oculopharyngodistal myopathy GARD GARD:0012592 one_to_one -MONDO:0008117 Oculopharyngodistal myopathy ICD10 ICD10:G71.0 inexact -MONDO:0008117 Oculopharyngodistal myopathy MESH MESH:C563508 one_to_one -MONDO:0008117 Oculopharyngodistal myopathy MONDO MONDO:0016106,MONDO:0018949,MONDO:0020169,MONDO:0020259 subclass -MONDO:0008117 Oculopharyngodistal myopathy OMIM OMIM:164310 one_to_one -MONDO:0008117 Oculopharyngodistal myopathy Orphanet Orphanet:98897 one_to_one -MONDO:0008117 Oculopharyngodistal myopathy UMLS UMLS:C1834014 one_to_one +MONDO:0008117 oculopharyngodistal myopathy GARD GARD:0012592 one_to_one +MONDO:0008117 oculopharyngodistal myopathy ICD10 ICD10:G71.0 inexact +MONDO:0008117 oculopharyngodistal myopathy MESH MESH:C563508 one_to_one +MONDO:0008117 oculopharyngodistal myopathy MONDO MONDO:0016106,MONDO:0018949,MONDO:0020169,MONDO:0020259 subclass +MONDO:0008117 oculopharyngodistal myopathy OMIM OMIM:164310 one_to_one +MONDO:0008117 oculopharyngodistal myopathy Orphanet Orphanet:98897 one_to_one +MONDO:0008117 oculopharyngodistal myopathy UMLS UMLS:C1834014 one_to_one MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome GARD GARD:0000238 one_to_one MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome MESH MESH:C537740 one_to_one MONDO:0008118 odontomatosis-aortae esophagus stenosis syndrome MONDO MONDO:0015336,MONDO:0015960 subclass @@ -46792,7 +46945,7 @@ MONDO:0008129 ophthalmoplegia, familial total, with iris transillumination OMIM MONDO:0008129 ophthalmoplegia, familial total, with iris transillumination UMLS UMLS:C1833836 one_to_one MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome GARD GARD:0003236 one_to_one MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome MESH MESH:C563498 one_to_one -MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome OMIM OMIM:165150 one_to_one MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome Orphanet Orphanet:2743 one_to_one MONDO:0008130 ophthalmoplegia-intellectual disability-lingua scrotalis syndrome UMLS UMLS:C1833835 one_to_one @@ -46836,7 +46989,7 @@ MONDO:0008137 orofaciodigital syndrome X DOID DOID:0060380 one_to_one MONDO:0008137 orofaciodigital syndrome X GARD GARD:0004061 one_to_one MONDO:0008137 orofaciodigital syndrome X ICD10 ICD10:Q87.0 inexact MONDO:0008137 orofaciodigital syndrome X MESH MESH:C563491 one_to_one -MONDO:0008137 orofaciodigital syndrome X MONDO MONDO:0015375,MONDO:0015983 subclass +MONDO:0008137 orofaciodigital syndrome X MONDO MONDO:0002320,MONDO:0015375,MONDO:0015983 subclass MONDO:0008137 orofaciodigital syndrome X OMIM OMIM:165590 one_to_one MONDO:0008137 orofaciodigital syndrome X Orphanet Orphanet:2756 one_to_one MONDO:0008137 orofaciodigital syndrome X SCTID SCTID:722075004 one_to_one @@ -46972,7 +47125,7 @@ MONDO:0008155 osteomesopyknosis UMLS UMLS:C0432264 one_to_one MONDO:0008156 autosomal dominant osteopetrosis 2 DOID DOID:0110938 one_to_one MONDO:0008156 autosomal dominant osteopetrosis 2 GARD GARD:0000383 one_to_one MONDO:0008156 autosomal dominant osteopetrosis 2 ICD10 ICD10:Q78.2 inexact -MONDO:0008156 autosomal dominant osteopetrosis 2 MONDO MONDO:0015960,MONDO:0017198,MONDO:0020244,MONDO:0020249 subclass +MONDO:0008156 autosomal dominant osteopetrosis 2 MONDO MONDO:0015958,MONDO:0015960,MONDO:0017198,MONDO:0020244,MONDO:0020249,MONDO:0042973 subclass MONDO:0008156 autosomal dominant osteopetrosis 2 OMIM OMIM:166600 one_to_one MONDO:0008156 autosomal dominant osteopetrosis 2 Orphanet Orphanet:53 one_to_one MONDO:0008156 autosomal dominant osteopetrosis 2 UMLS UMLS:C3179239 one_to_one @@ -47001,13 +47154,13 @@ MONDO:0008160 osteosclerosis with ichthyosis and fractures MESH MESH:C563483 one MONDO:0008160 osteosclerosis with ichthyosis and fractures MONDO MONDO:0003847 subclass MONDO:0008160 osteosclerosis with ichthyosis and fractures OMIM OMIM:166740 one_to_one MONDO:0008160 osteosclerosis with ichthyosis and fractures UMLS UMLS:C1833697 one_to_one -MONDO:0008161 Otodental syndrome GARD GARD:0004168 one_to_one -MONDO:0008161 Otodental syndrome ICD10 ICD10:K00.2 inexact -MONDO:0008161 Otodental syndrome MONDO MONDO:0015336,MONDO:0016910 subclass -MONDO:0008161 Otodental syndrome OMIM OMIM:166750 one_to_one -MONDO:0008161 Otodental syndrome Orphanet Orphanet:2791 one_to_one -MONDO:0008161 Otodental syndrome SCTID SCTID:707310009 one_to_one -MONDO:0008161 Otodental syndrome UMLS UMLS:C1833693 one_to_one +MONDO:0008161 otodental syndrome GARD GARD:0004168 one_to_one +MONDO:0008161 otodental syndrome ICD10 ICD10:K00.2 inexact +MONDO:0008161 otodental syndrome MONDO MONDO:0015336,MONDO:0016910 subclass +MONDO:0008161 otodental syndrome OMIM OMIM:166750 one_to_one +MONDO:0008161 otodental syndrome Orphanet Orphanet:2791 one_to_one +MONDO:0008161 otodental syndrome SCTID SCTID:707310009 one_to_one +MONDO:0008161 otodental syndrome UMLS UMLS:C1833693 one_to_one MONDO:0008162 otitis media, susceptibility to MONDO MONDO:0003847 subclass MONDO:0008162 otitis media, susceptibility to OMIM OMIM:166760 one_to_one MONDO:0008163 otofaciocervical syndrome DC DC:0000698 one_to_one @@ -47042,7 +47195,7 @@ MONDO:0008167 dermoid cyst of ovary UMLS UMLS:C0237020 one_to_one MONDO:0008168 ovarian fibroma (disease) HP HP:0010618 one_to_one MONDO:0008168 ovarian fibroma (disease) ICD10 ICD10:D27 inexact MONDO:0008168 ovarian fibroma (disease) MESH MESH:C562391 one_to_one -MONDO:0008168 ovarian fibroma (disease) MONDO MONDO:0000636,MONDO:0005167,MONDO:0019965 subclass +MONDO:0008168 ovarian fibroma (disease) MONDO MONDO:0005167,MONDO:0019965 subclass MONDO:0008168 ovarian fibroma (disease) MedDRA MedDRA:10064257 one_to_one MONDO:0008168 ovarian fibroma (disease) NCIT NCIT:C3498 one_to_one MONDO:0008168 ovarian fibroma (disease) OMIM OMIM:166970 one_to_one @@ -47174,7 +47327,7 @@ MONDO:0008186 pancytopenia and occlusive vascular disease MESH MESH:C566836 one_ MONDO:0008186 pancytopenia and occlusive vascular disease MONDO MONDO:0003847 subclass MONDO:0008186 pancytopenia and occlusive vascular disease OMIM OMIM:167850 one_to_one MONDO:0008186 pancytopenia and occlusive vascular disease UMLS UMLS:C1868652 one_to_one -MONDO:0008187 PAND1 MONDO MONDO:0003847,MONDO:0005383,MONDO:0019117 subclass +MONDO:0008187 PAND1 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005383,MONDO:0019117 subclass MONDO:0008187 PAND1 OMIM OMIM:167870 one_to_one MONDO:0008187 PAND1 http http://identifiers.org/hgnc/2228 disease_has_basis_in_dysfunction_of MONDO:0008188 papillomatosis, confluent and reticulated MESH MESH:C566832 one_to_one @@ -47336,7 +47489,7 @@ MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy DOID D MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy GARD GARD:0010587 one_to_one MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy ICD10 ICD10:E75.2 inexact MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MESH MESH:C566813 one_to_one -MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO MONDO:0016956,MONDO:0019046,MONDO:0020261,MONDO:0021106 subclass +MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy MONDO MONDO:0002320,MONDO:0016956,MONDO:0019046,MONDO:0020261,MONDO:0021106 subclass MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy OMIM OMIM:169500 one_to_one MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy Orphanet Orphanet:99027 one_to_one MONDO:0008215 adult-onset autosomal dominant demyelinating leukodystrophy SCTID SCTID:448054001 one_to_one @@ -47539,7 +47692,7 @@ MONDO:0008244 piebaldism ICD10 ICD10:E70.3,ICD10:E70.39 inexact MONDO:0008244 piebaldism ICD9 ICD9:270.2 inexact MONDO:0008244 piebaldism MESH MESH:D016116 one_to_one MONDO:0008244 piebaldism MONDO MONDO:0043209 excluded_subClassOf -MONDO:0008244 piebaldism MONDO MONDO:0000426,MONDO:0015960,MONDO:0019043,MONDO:0019290,MONDO:0020191,MONDO:0020276,MONDO:0021635 subclass +MONDO:0008244 piebaldism MONDO MONDO:0000426,MONDO:0002320,MONDO:0015960,MONDO:0019043,MONDO:0019290,MONDO:0020191,MONDO:0020276,MONDO:0021635 subclass MONDO:0008244 piebaldism NCIT NCIT:C85009 one_to_one MONDO:0008244 piebaldism OMIM OMIM:172800 one_to_one MONDO:0008244 piebaldism Orphanet Orphanet:2884 one_to_one @@ -47654,7 +47807,7 @@ MONDO:0008262 Poland syndrome GARD GARD:0007412 one_to_one MONDO:0008262 Poland syndrome ICD10 ICD10:Q79.8 inexact MONDO:0008262 Poland syndrome ICD9 ICD9:756.89 inexact MONDO:0008262 Poland syndrome MESH MESH:D011045 one_to_one -MONDO:0008262 Poland syndrome MONDO MONDO:0000839,MONDO:0015856,MONDO:0015980,MONDO:0019066 subclass +MONDO:0008262 Poland syndrome MONDO MONDO:0015856,MONDO:0015980,MONDO:0019066 subclass MONDO:0008262 Poland syndrome MedDRA MedDRA:10036007 one_to_one MONDO:0008262 Poland syndrome NCIT NCIT:C85017 one_to_one MONDO:0008262 Poland syndrome OMIM OMIM:173800 one_to_one @@ -47696,7 +47849,7 @@ MONDO:0008267 orofaciodigital syndrome V DOID DOID:0060375 one_to_one MONDO:0008267 orofaciodigital syndrome V GARD GARD:0004120 one_to_one MONDO:0008267 orofaciodigital syndrome V ICD10 ICD10:Q87.0 inexact MONDO:0008267 orofaciodigital syndrome V MESH MESH:C557819 one_to_one -MONDO:0008267 orofaciodigital syndrome V MONDO MONDO:0015375,MONDO:0015983 subclass +MONDO:0008267 orofaciodigital syndrome V MONDO MONDO:0002320,MONDO:0015375,MONDO:0015983 subclass MONDO:0008267 orofaciodigital syndrome V OMIM OMIM:174300 one_to_one MONDO:0008267 orofaciodigital syndrome V Orphanet Orphanet:2919 one_to_one MONDO:0008267 orofaciodigital syndrome V SCTID SCTID:722105002 one_to_one @@ -48062,7 +48215,7 @@ MONDO:0008318 Proteus syndrome ICD10 ICD10:Q87.3 inexact MONDO:0008318 Proteus syndrome ICD9 ICD9:759.89 inexact MONDO:0008318 Proteus syndrome MESH MESH:D016715 one_to_one MONDO:0008318 Proteus syndrome MONDO MONDO:0017414 disease_has_feature -MONDO:0008318 Proteus syndrome MONDO MONDO:0000839,MONDO:0015501,MONDO:0015651,MONDO:0015948,MONDO:0015958,MONDO:0016235,MONDO:0017371,MONDO:0017623,MONDO:0018729,MONDO:0019117,MONDO:0019716,MONDO:0020036,MONDO:0024653,MONDO:0043218 subclass +MONDO:0008318 Proteus syndrome MONDO MONDO:0002320,MONDO:0015501,MONDO:0015651,MONDO:0015948,MONDO:0015958,MONDO:0016235,MONDO:0017371,MONDO:0017623,MONDO:0018729,MONDO:0019117,MONDO:0019716,MONDO:0020036,MONDO:0024653,MONDO:0043218 subclass MONDO:0008318 Proteus syndrome NCIT NCIT:C85032 one_to_one MONDO:0008318 Proteus syndrome OMIM OMIM:176920 one_to_one MONDO:0008318 Proteus syndrome Orphanet Orphanet:744 one_to_one @@ -48149,7 +48302,7 @@ MONDO:0008331 pseudopapilledema (disease) DOID DOID:1392 one_to_one MONDO:0008331 pseudopapilledema (disease) HP HP:0000538 one_to_one MONDO:0008331 pseudopapilledema (disease) ICD9 ICD9:377.24 one_to_one MONDO:0008331 pseudopapilledema (disease) MESH MESH:C562401 one_to_one -MONDO:0008331 pseudopapilledema (disease) MONDO MONDO:0001834,MONDO:0002135,MONDO:0003847,MONDO:0005283,MONDO:0015107 subclass +MONDO:0008331 pseudopapilledema (disease) MONDO MONDO:0001834,MONDO:0002135,MONDO:0002320,MONDO:0003847,MONDO:0005283,MONDO:0015107 subclass MONDO:0008331 pseudopapilledema (disease) OMIM OMIM:177800 one_to_one MONDO:0008331 pseudopapilledema (disease) SCTID SCTID:57138009 one_to_one MONDO:0008331 pseudopapilledema (disease) UBERON UBERON:0001783 disease_has_location @@ -48410,7 +48563,7 @@ MONDO:0008375 retinal detachment EFO EFO:0005773 one_to_one MONDO:0008375 retinal detachment ICD10 ICD10:H33.2 one_to_one MONDO:0008375 retinal detachment ICD9 ICD9:361.89,ICD9:361.9,ICD9:362.40 inexact MONDO:0008375 retinal detachment MESH MESH:D012163 one_to_one -MONDO:0008375 retinal detachment MONDO MONDO:0003847,MONDO:0005283,MONDO:0015107 subclass +MONDO:0008375 retinal detachment MONDO MONDO:0002320,MONDO:0003847,MONDO:0005283,MONDO:0015107 subclass MONDO:0008375 retinal detachment NCIT NCIT:C26874 one_to_one MONDO:0008375 retinal detachment OMIM OMIM:180050 one_to_one MONDO:0008375 retinal detachment SCTID SCTID:42059000 one_to_one @@ -48467,7 +48620,7 @@ MONDO:0008381 dominant pericentral pigmentary retinopathy UMLS UMLS:C1867261 one MONDO:0008382 retinoschisis, autosomal dominant GARD GARD:0009144 one_to_one MONDO:0008382 retinoschisis, autosomal dominant HP HP:0000006 has_modifier MONDO:0008382 retinoschisis, autosomal dominant MESH MESH:C000598640 one_to_one -MONDO:0008382 retinoschisis, autosomal dominant MONDO MONDO:0000426,MONDO:0004579,MONDO:0004589 subclass +MONDO:0008382 retinoschisis, autosomal dominant MONDO MONDO:0000426,MONDO:0004579,MONDO:0019118 subclass MONDO:0008382 retinoschisis, autosomal dominant OMIM OMIM:180270 one_to_one MONDO:0008382 retinoschisis, autosomal dominant UMLS UMLS:C1867235 one_to_one MONDO:0008383 rheumatoid arthritis COHD COHD:80809 one_to_one @@ -48577,7 +48730,7 @@ MONDO:0008396 oculodental syndrome, Rutherfurd type GARD GARD:0000212 one_to_one MONDO:0008396 oculodental syndrome, Rutherfurd type ICD10 ICD10:Q87.8 inexact MONDO:0008396 oculodental syndrome, Rutherfurd type ICD9 ICD9:759.89 inexact MONDO:0008396 oculodental syndrome, Rutherfurd type MESH MESH:C537732 one_to_one -MONDO:0008396 oculodental syndrome, Rutherfurd type MONDO MONDO:0015336,MONDO:0015960,MONDO:0020215 subclass +MONDO:0008396 oculodental syndrome, Rutherfurd type MONDO MONDO:0002320,MONDO:0015336,MONDO:0015960,MONDO:0020215 subclass MONDO:0008396 oculodental syndrome, Rutherfurd type OMIM OMIM:180900 one_to_one MONDO:0008396 oculodental syndrome, Rutherfurd type Orphanet Orphanet:2709 one_to_one MONDO:0008396 oculodental syndrome, Rutherfurd type SCTID SCTID:699754008 one_to_one @@ -48594,7 +48747,6 @@ MONDO:0008398 salivary substance, Clostridium botulinum type UMLS UMLS:C1867056 MONDO:0008399 sarcoidosis, susceptibility to, 1 ICD9 ICD9:135 inexact MONDO:0008399 sarcoidosis, susceptibility to, 1 MONDO MONDO:0019338 subclass MONDO:0008399 sarcoidosis, susceptibility to, 1 OMIM OMIM:181000 one_to_one -MONDO:0008399 sarcoidosis, susceptibility to, 1 SCTID SCTID:31541009 one_to_one MONDO:0008399 sarcoidosis, susceptibility to, 1 http http://identifiers.org/hgnc/4948 disease_has_basis_in_dysfunction_of MONDO:0008400 salivary duct calculi MESH MESH:D012465 one_to_one MONDO:0008400 salivary duct calculi MONDO MONDO:0003847 subclass @@ -48753,14 +48905,14 @@ MONDO:0008424 sella turcica, bridged OMIM OMIM:182200 one_to_one MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type GARD GARD:0009850 one_to_one MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type ICD10 ICD10:Q79.2 inexact MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type MESH MESH:C537329 one_to_one -MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type MONDO MONDO:0015159,MONDO:0015216,MONDO:0015983 subclass +MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type MONDO MONDO:0002320,MONDO:0015159,MONDO:0015216,MONDO:0015983 subclass MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type OMIM OMIM:182210 one_to_one MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type Orphanet Orphanet:3164 one_to_one MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type SCTID SCTID:716230005 one_to_one MONDO:0008425 omphalocele syndrome, Shprintzen-Goldberg type UMLS UMLS:C1866958 one_to_one MONDO:0008426 Shprintzen-Goldberg syndrome GARD GARD:0004861 one_to_one MONDO:0008426 Shprintzen-Goldberg syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0008426 Shprintzen-Goldberg syndrome MONDO MONDO:0015159,MONDO:0015338,MONDO:0015983,MONDO:0017310,MONDO:0043005 subclass +MONDO:0008426 Shprintzen-Goldberg syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015338,MONDO:0015983,MONDO:0017310,MONDO:0043005 subclass MONDO:0008426 Shprintzen-Goldberg syndrome NCIT NCIT:C124840 one_to_one MONDO:0008426 Shprintzen-Goldberg syndrome OMIM OMIM:182212 one_to_one MONDO:0008426 Shprintzen-Goldberg syndrome Orphanet Orphanet:2462 one_to_one @@ -48821,7 +48973,7 @@ MONDO:0008434 Smith-Magenis syndrome GARD GARD:0008197 one_to_one MONDO:0008434 Smith-Magenis syndrome ICD10 ICD10:Q93.5 inexact MONDO:0008434 Smith-Magenis syndrome ICD9 ICD9:758.33 inexact MONDO:0008434 Smith-Magenis syndrome MESH MESH:D058496 one_to_one -MONDO:0008434 Smith-Magenis syndrome MONDO MONDO:0000761,MONDO:0015159,MONDO:0015878,MONDO:0015983,MONDO:0016565,MONDO:0016895,MONDO:0019052,MONDO:0043005 subclass +MONDO:0008434 Smith-Magenis syndrome MONDO MONDO:0000761,MONDO:0002320,MONDO:0015159,MONDO:0015878,MONDO:0015983,MONDO:0016565,MONDO:0016895,MONDO:0019052,MONDO:0043005 subclass MONDO:0008434 Smith-Magenis syndrome NCIT NCIT:C75469 one_to_one MONDO:0008434 Smith-Magenis syndrome OMIM OMIM:182290 one_to_one MONDO:0008434 Smith-Magenis syndrome Orphanet Orphanet:819 one_to_one @@ -48835,7 +48987,7 @@ MONDO:0008436 Sneddon syndrome EFO EFO:1001186 one_to_one MONDO:0008436 Sneddon syndrome GARD GARD:0007664 one_to_one MONDO:0008436 Sneddon syndrome ICD10 ICD10:I77.8 inexact MONDO:0008436 Sneddon syndrome MESH MESH:D018860 one_to_one -MONDO:0008436 Sneddon syndrome MONDO MONDO:0000473,MONDO:0000603,MONDO:0002977,MONDO:0015939,MONDO:0015948,MONDO:0015984,MONDO:0017133,MONDO:0017841,MONDO:0019110,MONDO:0019117,MONDO:0019293,MONDO:0019546,MONDO:0043218 subclass +MONDO:0008436 Sneddon syndrome MONDO MONDO:0000473,MONDO:0000603,MONDO:0002320,MONDO:0002977,MONDO:0015939,MONDO:0015948,MONDO:0015984,MONDO:0017133,MONDO:0017841,MONDO:0019110,MONDO:0019117,MONDO:0019293,MONDO:0019546,MONDO:0043218 subclass MONDO:0008436 Sneddon syndrome MedDRA MedDRA:10053841 one_to_one MONDO:0008436 Sneddon syndrome OMIM OMIM:182410 one_to_one MONDO:0008436 Sneddon syndrome Orphanet Orphanet:820 one_to_one @@ -48897,7 +49049,7 @@ MONDO:0008444 spastic paraplegia, optic atrophy, and dementia OMIM OMIM:182830 o MONDO:0008444 spastic paraplegia, optic atrophy, and dementia UMLS UMLS:C1866849 one_to_one MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome GARD GARD:0003449 one_to_one MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome ICD10 ICD10:Q87.0 inexact -MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome OMIM OMIM:182875 one_to_one MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome Orphanet Orphanet:3038 one_to_one MONDO:0008445 delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome SCTID SCTID:716199000 one_to_one @@ -48925,7 +49077,7 @@ MONDO:0008449 spina bifida (disease) HP HP:0002414 one_to_one MONDO:0008449 spina bifida (disease) ICD9 ICD9:741 inexact MONDO:0008449 spina bifida (disease) MESH MESH:D016135 one_to_one MONDO:0008449 spina bifida (disease) MONDO MONDO:0001147 disease_has_feature -MONDO:0008449 spina bifida (disease) MONDO MONDO:0002320,MONDO:0002545,MONDO:0017059 subclass +MONDO:0008449 spina bifida (disease) MONDO MONDO:0002545,MONDO:0017059 subclass MONDO:0008449 spina bifida (disease) NCIT NCIT:C101214 one_to_one MONDO:0008449 spina bifida (disease) SCTID SCTID:67531005 one_to_one MONDO:0008450 spinal arachnoiditis MESH MESH:C531624 one_to_one @@ -48998,8 +49150,8 @@ MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells MONDO MONDO:0003847 subclass MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells OMIM OMIM:183350 one_to_one MONDO:0008461 splenomegaly syndrome with splenic Germinal center hypoplasia and reduced circulating T helper cells UMLS UMLS:C1866744 one_to_one -MONDO:0008462 split lower 51P MONDO MONDO:0003847 subclass -MONDO:0008462 split lower 51P OMIM OMIM:183400 one_to_one +MONDO:0008462 split lower lip MONDO MONDO:0003847 subclass +MONDO:0008462 split lower lip OMIM OMIM:183400 one_to_one MONDO:0008463 split-hand and split-foot with hypodontia MESH MESH:C566665 one_to_one MONDO:0008463 split-hand and split-foot with hypodontia MONDO MONDO:0003847 subclass MONDO:0008463 split-hand and split-foot with hypodontia OMIM OMIM:183500 one_to_one @@ -49027,7 +49179,7 @@ MONDO:0008466 Karsch-Neugebauer syndrome UMLS UMLS:C1866740 one_to_one MONDO:0008467 Czeizel-Losonci syndrome GARD GARD:0004969 one_to_one MONDO:0008467 Czeizel-Losonci syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008467 Czeizel-Losonci syndrome MESH MESH:C566662 one_to_one -MONDO:0008467 Czeizel-Losonci syndrome MONDO MONDO:0015620,MONDO:0015983,MONDO:0043008 subclass +MONDO:0008467 Czeizel-Losonci syndrome MONDO MONDO:0002320,MONDO:0015620,MONDO:0015983,MONDO:0043008 subclass MONDO:0008467 Czeizel-Losonci syndrome OMIM OMIM:183802 one_to_one MONDO:0008467 Czeizel-Losonci syndrome Orphanet Orphanet:2437 one_to_one MONDO:0008467 Czeizel-Losonci syndrome UMLS UMLS:C1866739 one_to_one @@ -49135,7 +49287,7 @@ MONDO:0008482 Sprengel deformity (disease) MONDO MONDO:0015929 subclass MONDO:0008482 Sprengel deformity (disease) MedDRA MedDRA:10010455 one_to_one MONDO:0008482 Sprengel deformity (disease) OMIM OMIM:184400 one_to_one MONDO:0008482 Sprengel deformity (disease) Orphanet Orphanet:3181 one_to_one -MONDO:0008483 STUT1 MONDO MONDO:0000723,MONDO:0003847,MONDO:0019117 subclass +MONDO:0008483 STUT1 MONDO MONDO:0000723,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0008483 STUT1 OMIM OMIM:184450 one_to_one MONDO:0008483 STUT1 http http://identifiers.org/hgnc/573 disease_has_basis_in_dysfunction_of MONDO:0008484 stapes ankylosis with broad thumbs and toes ICD10 ICD10:Q87.8 inexact @@ -49174,7 +49326,7 @@ MONDO:0008487 polycystic ovary syndrome UMLS UMLS:C0032460 one_to_one MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome GARD GARD:0002727 one_to_one MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome MESH MESH:C566655 one_to_one -MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019721 subclass +MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019721 subclass MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome OMIM OMIM:184705 one_to_one MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome Orphanet Orphanet:3186 one_to_one MONDO:0008488 holoprosencephaly-radial heart renal anomalies syndrome SCTID SCTID:716233007 one_to_one @@ -49196,7 +49348,7 @@ MONDO:0008491 stiff-person syndrome HP HP:0002063 disease_has_feature MONDO:0008491 stiff-person syndrome ICD10 ICD10:G25.8,ICD10:G25.82 inexact MONDO:0008491 stiff-person syndrome ICD9 ICD9:333.91 one_to_one MONDO:0008491 stiff-person syndrome MESH MESH:D016750 one_to_one -MONDO:0008491 stiff-person syndrome MONDO MONDO:0002254,MONDO:0015888,MONDO:0015916,MONDO:0015957,MONDO:0015967 subclass +MONDO:0008491 stiff-person syndrome MONDO MONDO:0002254,MONDO:0002320,MONDO:0015888,MONDO:0015916,MONDO:0015957,MONDO:0015967 subclass MONDO:0008491 stiff-person syndrome MedDRA MedDRA:10042044 one_to_one MONDO:0008491 stiff-person syndrome NCIT NCIT:C85170 one_to_one MONDO:0008491 stiff-person syndrome OMIM OMIM:184850 one_to_one @@ -49691,9 +49843,9 @@ MONDO:0008567 thyroid cancer, nonmedullary, 1 MONDO MONDO:0000201,MONDO:0005075 MONDO:0008567 thyroid cancer, nonmedullary, 1 OMIM OMIM:188550 one_to_one MONDO:0008567 thyroid cancer, nonmedullary, 1 http http://identifiers.org/hgnc/11812,http://identifiers.org/hgnc/11825,http://identifiers.org/hgnc/16290,http://identifiers.org/hgnc/18782,http://identifiers.org/hgnc/4428,http://identifiers.org/hgnc/7671,http://identifiers.org/hgnc/8727,http://identifiers.org/hgnc/9388 disease_has_basis_in_dysfunction_of MONDO:0008568 thyroid hormone plasma membrane transport defect GARD GARD:0008499 one_to_one -MONDO:0008568 thyroid hormone plasma membrane transport defect GO GO:0070327 disease_disrupts +MONDO:0008568 thyroid hormone plasma membrane transport defect GO GO:0015349 disease_disrupts MONDO:0008568 thyroid hormone plasma membrane transport defect MESH MESH:C536916 one_to_one -MONDO:0008568 thyroid hormone plasma membrane transport defect MONDO MONDO:0003847 subclass +MONDO:0008568 thyroid hormone plasma membrane transport defect MONDO MONDO:0003847,MONDO:0044975 subclass MONDO:0008568 thyroid hormone plasma membrane transport defect OMIM OMIM:188560 one_to_one MONDO:0008568 thyroid hormone plasma membrane transport defect UMLS UMLS:C1861101 one_to_one MONDO:0008569 thyroid hormone resistance, generalized, autosomal dominant MESH MESH:C567934 one_to_one @@ -49722,7 +49874,7 @@ MONDO:0008575 nicotine dependence EFO EFO:0003768 one_to_one MONDO:0008575 nicotine dependence ICD10 ICD10:F17,ICD10:F17.2,ICD10:F17.20 inexact MONDO:0008575 nicotine dependence ICD9 ICD9:305.1 one_to_one MONDO:0008575 nicotine dependence MESH MESH:D014029 one_to_one -MONDO:0008575 nicotine dependence MONDO MONDO:0003847,MONDO:0005303,MONDO:0019117 subclass +MONDO:0008575 nicotine dependence MONDO MONDO:0002320,MONDO:0003847,MONDO:0005303,MONDO:0019117 subclass MONDO:0008575 nicotine dependence NCIT NCIT:C54203 one_to_one MONDO:0008575 nicotine dependence OMIM OMIM:188890 one_to_one MONDO:0008575 nicotine dependence SCTID SCTID:56294008 one_to_one @@ -49806,7 +49958,7 @@ MONDO:0008589 tremor of intention, ataxia, and lipofuscinosis OMIM OMIM:190200 o MONDO:0008589 tremor of intention, ataxia, and lipofuscinosis UMLS UMLS:C1860872 one_to_one MONDO:0008590 tremor, hereditary essential, 1 GARD GARD:0005244 one_to_one MONDO:0008590 tremor, hereditary essential, 1 MESH MESH:C536545 one_to_one -MONDO:0008590 tremor, hereditary essential, 1 MONDO MONDO:0003233,MONDO:0003847,MONDO:0015957 subclass +MONDO:0008590 tremor, hereditary essential, 1 MONDO MONDO:0002320,MONDO:0003233,MONDO:0003847,MONDO:0015957 subclass MONDO:0008590 tremor, hereditary essential, 1 OMIM OMIM:190300 one_to_one MONDO:0008590 tremor, hereditary essential, 1 UMLS UMLS:C1860861 one_to_one MONDO:0008590 tremor, hereditary essential, 1 http http://identifiers.org/hgnc/3024 disease_has_basis_in_dysfunction_of @@ -50115,7 +50267,8 @@ MONDO:0008640 vasculitis, lymphocytic, nodular UBERON UBERON:0000014 disease_has MONDO:0008640 vasculitis, lymphocytic, nodular UMLS UMLS:C1860519 one_to_one MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations GARD GARD:0001217,GARD:0002558,GARD:0010535 inexact MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MESH MESH:C566007 one_to_one -MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO MONDO:0000589,MONDO:0000603,MONDO:0002311,MONDO:0004589,MONDO:0015939,MONDO:0015984,MONDO:0016517,MONDO:0018751,MONDO:0018782,MONDO:0018787,MONDO:0019723,MONDO:0100014 subclass +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO MONDO:0019118 disease_has_feature +MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations MONDO MONDO:0000589,MONDO:0000603,MONDO:0002311,MONDO:0015939,MONDO:0015984,MONDO:0016517,MONDO:0018751,MONDO:0018782,MONDO:0018787,MONDO:0019118,MONDO:0019723,MONDO:0100014 subclass MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations OMIM OMIM:192315 one_to_one MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations Orphanet Orphanet:247691 one_to_one MONDO:0008641 retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations SCTID SCTID:720854004,SCTID:721141004 inexact @@ -50504,7 +50657,7 @@ MONDO:0008693 ablepharon macrostomia syndrome http http://identifiers.org/hgnc/2 MONDO:0008694 pseudoprogeria syndrome GARD GARD:0000415 one_to_one MONDO:0008694 pseudoprogeria syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008694 pseudoprogeria syndrome MESH MESH:C563111 one_to_one -MONDO:0008694 pseudoprogeria syndrome MONDO MONDO:0015159,MONDO:0015333,MONDO:0015983 subclass +MONDO:0008694 pseudoprogeria syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015333,MONDO:0015983 subclass MONDO:0008694 pseudoprogeria syndrome OMIM OMIM:200130 one_to_one MONDO:0008694 pseudoprogeria syndrome Orphanet Orphanet:2985 one_to_one MONDO:0008694 pseudoprogeria syndrome UMLS UMLS:C0796125 one_to_one @@ -50670,7 +50823,7 @@ MONDO:0008714 acrofacial dysostosis Rodriguez type DOID DOID:0060383 one_to_one MONDO:0008714 acrofacial dysostosis Rodriguez type GARD GARD:0000496 one_to_one MONDO:0008714 acrofacial dysostosis Rodriguez type ICD10 ICD10:Q75.4 inexact MONDO:0008714 acrofacial dysostosis Rodriguez type MESH MESH:C538183 one_to_one -MONDO:0008714 acrofacial dysostosis Rodriguez type MONDO MONDO:0015159,MONDO:0015334,MONDO:0015983,MONDO:0018237,MONDO:0043005 subclass +MONDO:0008714 acrofacial dysostosis Rodriguez type MONDO MONDO:0002320,MONDO:0015159,MONDO:0015334,MONDO:0015983,MONDO:0018237,MONDO:0043005 subclass MONDO:0008714 acrofacial dysostosis Rodriguez type OMIM OMIM:201170 one_to_one MONDO:0008714 acrofacial dysostosis Rodriguez type Orphanet Orphanet:1788 one_to_one MONDO:0008714 acrofacial dysostosis Rodriguez type SCTID SCTID:720430002 one_to_one @@ -50712,19 +50865,21 @@ MONDO:0008719 acrorenal syndrome, autosomal recessive MESH MESH:C535666 one_to_o MONDO:0008719 acrorenal syndrome, autosomal recessive MONDO MONDO:0006025,MONDO:0007059 subclass MONDO:0008719 acrorenal syndrome, autosomal recessive OMIM OMIM:201310 one_to_one MONDO:0008719 acrorenal syndrome, autosomal recessive UMLS UMLS:C0796290 one_to_one -MONDO:0008720 adrenocorticotropic hormone deficiency (disease) DOID DOID:0080150 one_to_one -MONDO:0008720 adrenocorticotropic hormone deficiency (disease) EFO EFO:1001979 one_to_one -MONDO:0008720 adrenocorticotropic hormone deficiency (disease) GARD GARD:0005727 one_to_one -MONDO:0008720 adrenocorticotropic hormone deficiency (disease) HP HP:0011748 one_to_one -MONDO:0008720 adrenocorticotropic hormone deficiency (disease) ICD10 ICD10:E23.6 inexact -MONDO:0008720 adrenocorticotropic hormone deficiency (disease) ICD9 ICD9:255.41 inexact -MONDO:0008720 adrenocorticotropic hormone deficiency (disease) MESH MESH:C535668 one_to_one -MONDO:0008720 adrenocorticotropic hormone deficiency (disease) MONDO MONDO:0013099 subclass -MONDO:0008720 adrenocorticotropic hormone deficiency (disease) OMIM OMIM:201400 one_to_one -MONDO:0008720 adrenocorticotropic hormone deficiency (disease) Orphanet Orphanet:199296 one_to_one -MONDO:0008720 adrenocorticotropic hormone deficiency (disease) SCTID SCTID:237692001 one_to_one -MONDO:0008720 adrenocorticotropic hormone deficiency (disease) UMLS UMLS:C0342388 one_to_one -MONDO:0008720 adrenocorticotropic hormone deficiency (disease) http http://identifiers.org/hgnc/11596 disease_has_basis_in_dysfunction_of +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) DOID DOID:0080150 one_to_one +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) EFO EFO:1001979 one_to_one +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) GARD GARD:0005727 one_to_one +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) GO GO:0051458 disease_has_basis_in_disruption_of +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) HP HP:0011748 one_to_one +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) ICD10 ICD10:E23.6 inexact +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) ICD9 ICD9:255.41 inexact +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) MESH MESH:C535668 one_to_one +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) MONDO MONDO:0021128 has_modifier +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) MONDO MONDO:0013099,MONDO:0016553,MONDO:0019824 subclass +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) OMIM OMIM:201400 one_to_one +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) Orphanet Orphanet:199296 one_to_one +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) SCTID SCTID:237692001 one_to_one +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) UMLS UMLS:C0342388 one_to_one +MONDO:0008720 congenital isolated adrenocorticotropic hormone deficiency (disease) http http://identifiers.org/hgnc/11596 disease_has_basis_in_dysfunction_of MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency DOID DOID:0080153 one_to_one MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency GARD GARD:0000540 one_to_one MONDO:0008721 medium chain acyl-CoA dehydrogenase deficiency GO GO:0070991 disease_has_basis_in_disruption_of @@ -50743,7 +50898,7 @@ MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency GARD GARD:0004822 on MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency GO GO:0016937 disease_has_basis_in_disruption_of MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency ICD10 ICD10:E71.3,ICD10:E71.312 inexact MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency MESH MESH:C537596 one_to_one -MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency MONDO MONDO:0003847,MONDO:0015123,MONDO:0016117,MONDO:0017714,MONDO:0044976 subclass +MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency MONDO MONDO:0002320,MONDO:0003847,MONDO:0015123,MONDO:0016117,MONDO:0017714,MONDO:0044976 subclass MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency NCIT NCIT:C84539 one_to_one MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency OMIM OMIM:201470 one_to_one MONDO:0008722 short chain acyl-CoA dehydrogenase deficiency Orphanet Orphanet:26792 one_to_one @@ -50860,7 +51015,7 @@ MONDO:0008740 agnathia-otocephaly complex DOID DOID:0060341 one_to_one MONDO:0008740 agnathia-otocephaly complex GARD GARD:0009126 one_to_one MONDO:0008740 agnathia-otocephaly complex ICD10 ICD10:Q18.2,ICD10:Q87.8 inexact MONDO:0008740 agnathia-otocephaly complex ICD9 ICD9:759.89 inexact -MONDO:0008740 agnathia-otocephaly complex MONDO MONDO:0000839,MONDO:0015159,MONDO:0015983 subclass +MONDO:0008740 agnathia-otocephaly complex MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0008740 agnathia-otocephaly complex NCIT NCIT:C124568 one_to_one MONDO:0008740 agnathia-otocephaly complex OMIM OMIM:202650 one_to_one MONDO:0008740 agnathia-otocephaly complex Orphanet Orphanet:990 one_to_one @@ -50884,7 +51039,7 @@ MONDO:0008742 autosomal dominant severe congenital neutropenia UMLS UMLS:C185996 MONDO:0008742 autosomal dominant severe congenital neutropenia http http://identifiers.org/hgnc/3309 disease_has_basis_in_dysfunction_of MONDO:0008743 Stimmler syndrome GARD GARD:0005026 one_to_one MONDO:0008743 Stimmler syndrome MESH MESH:C565968 one_to_one -MONDO:0008743 Stimmler syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0008743 Stimmler syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0008743 Stimmler syndrome OMIM OMIM:202900 one_to_one MONDO:0008743 Stimmler syndrome Orphanet Orphanet:3199 one_to_one MONDO:0008743 Stimmler syndrome UMLS UMLS:C1859965 one_to_one @@ -50968,7 +51123,7 @@ MONDO:0008753 alkaptonuria GARD GARD:0005775 one_to_one MONDO:0008753 alkaptonuria ICD10 ICD10:E70.2,ICD10:E70.29 inexact MONDO:0008753 alkaptonuria ICD9 ICD9:270.2 inexact MONDO:0008753 alkaptonuria MESH MESH:D000474 one_to_one -MONDO:0008753 alkaptonuria MONDO MONDO:0017307,MONDO:0019252,MONDO:0020203 subclass +MONDO:0008753 alkaptonuria MONDO MONDO:0002320,MONDO:0017307,MONDO:0019252,MONDO:0020203 subclass MONDO:0008753 alkaptonuria MedDRA MedDRA:10001689 one_to_one MONDO:0008753 alkaptonuria NCIT NCIT:C84546 one_to_one MONDO:0008753 alkaptonuria OMIM OMIM:203500 one_to_one @@ -50979,19 +51134,19 @@ MONDO:0008753 alkaptonuria http http://identifiers.org/hgnc/4892 disease_has_bas MONDO:0008754 alopecia-contractures-dwarfism-intellectual disability syndrome GARD GARD:0000605 one_to_one MONDO:0008754 alopecia-contractures-dwarfism-intellectual disability syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008754 alopecia-contractures-dwarfism-intellectual disability syndrome MESH MESH:C537051 one_to_one -MONDO:0008754 alopecia-contractures-dwarfism-intellectual disability syndrome MONDO MONDO:0015983,MONDO:0019287 subclass +MONDO:0008754 alopecia-contractures-dwarfism-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0019287 subclass MONDO:0008754 alopecia-contractures-dwarfism-intellectual disability syndrome OMIM OMIM:203550 one_to_one MONDO:0008754 alopecia-contractures-dwarfism-intellectual disability syndrome Orphanet Orphanet:1005 one_to_one MONDO:0008754 alopecia-contractures-dwarfism-intellectual disability syndrome UMLS UMLS:C0795895 one_to_one MONDO:0008755 Moynahan syndrome GARD GARD:0000606 one_to_one MONDO:0008755 Moynahan syndrome ICD10 ICD10:G40.4 inexact MONDO:0008755 Moynahan syndrome MESH MESH:C537052 one_to_one -MONDO:0008755 Moynahan syndrome MONDO MONDO:0015650,MONDO:0015983,MONDO:0019043,MONDO:0019289 subclass +MONDO:0008755 Moynahan syndrome MONDO MONDO:0002320,MONDO:0015650,MONDO:0015983,MONDO:0019043,MONDO:0019289 subclass MONDO:0008755 Moynahan syndrome OMIM OMIM:203600 one_to_one MONDO:0008755 Moynahan syndrome Orphanet Orphanet:2574 one_to_one MONDO:0008756 alopecia-intellectual disability syndrome GARD GARD:0000612 one_to_one MONDO:0008756 alopecia-intellectual disability syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0008756 alopecia-intellectual disability syndrome MONDO MONDO:0015983,MONDO:0021034 subclass +MONDO:0008756 alopecia-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0021034 subclass MONDO:0008756 alopecia-intellectual disability syndrome OMIMPS OMIMPS:203650 one_to_one MONDO:0008756 alopecia-intellectual disability syndrome Orphanet Orphanet:2850 one_to_one MONDO:0008756 alopecia-intellectual disability syndrome SCTID SCTID:716191002 one_to_one @@ -51057,7 +51212,7 @@ MONDO:0008763 Alstrom syndrome HP HP:0000618 disease_has_feature MONDO:0008763 Alstrom syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008763 Alstrom syndrome ICD9 ICD9:759.89 inexact MONDO:0008763 Alstrom syndrome MESH MESH:D056769 one_to_one -MONDO:0008763 Alstrom syndrome MONDO MONDO:0004589,MONDO:0005308,MONDO:0006025,MONDO:0015887,MONDO:0015962,MONDO:0015967,MONDO:0016337,MONDO:0016565,MONDO:0019589,MONDO:0019744,MONDO:0020240 subclass +MONDO:0008763 Alstrom syndrome MONDO MONDO:0005308,MONDO:0006025,MONDO:0015887,MONDO:0015962,MONDO:0015967,MONDO:0016337,MONDO:0016565,MONDO:0019589,MONDO:0019744,MONDO:0020240 subclass MONDO:0008763 Alstrom syndrome MedDRA MedDRA:10068783 one_to_one MONDO:0008763 Alstrom syndrome NCIT NCIT:C84549 one_to_one MONDO:0008763 Alstrom syndrome OMIM OMIM:203800 one_to_one @@ -51169,7 +51324,7 @@ MONDO:0008778 amyloidosis, cutaneous bullous SCTID SCTID:38606009 one_to_one MONDO:0008778 amyloidosis, cutaneous bullous UMLS UMLS:C0268399 one_to_one MONDO:0008779 arthrogryposis EFO EFO:0003857 one_to_one MONDO:0008779 arthrogryposis MESH MESH:D001176 one_to_one -MONDO:0008779 arthrogryposis MONDO MONDO:0003847,MONDO:0015957 subclass +MONDO:0008779 arthrogryposis MONDO MONDO:0002320,MONDO:0003847,MONDO:0015957 subclass MONDO:0008779 arthrogryposis NCIT NCIT:C84572 one_to_one MONDO:0008779 arthrogryposis UMLS UMLS:C0003886 one_to_one MONDO:0008780 amyotrophic lateral sclerosis type 2 DOID DOID:0060194 one_to_one @@ -51192,7 +51347,7 @@ MONDO:0008783 Tangier disease DOID DOID:1388 one_to_one MONDO:0008783 Tangier disease GARD GARD:0007731 one_to_one MONDO:0008783 Tangier disease ICD10 ICD10:E78.6 inexact MONDO:0008783 Tangier disease MESH MESH:D013631 one_to_one -MONDO:0008783 Tangier disease MONDO MONDO:0001822,MONDO:0016133,MONDO:0016134,MONDO:0017773,MONDO:0019058 subclass +MONDO:0008783 Tangier disease MONDO MONDO:0001822,MONDO:0002320,MONDO:0016133,MONDO:0016134,MONDO:0017773,MONDO:0019058 subclass MONDO:0008783 Tangier disease MedDRA MedDRA:10051875 one_to_one MONDO:0008783 Tangier disease NCIT NCIT:C85182 one_to_one MONDO:0008783 Tangier disease OMIM OMIM:205400 one_to_one @@ -51448,7 +51603,7 @@ MONDO:0008823 neurogenic arthrogryposis multiplex congenita DOID DOID:0090124 on MONDO:0008823 neurogenic arthrogryposis multiplex congenita GARD GARD:0000790 one_to_one MONDO:0008823 neurogenic arthrogryposis multiplex congenita ICD10 ICD10:Q74.3 inexact MONDO:0008823 neurogenic arthrogryposis multiplex congenita MESH MESH:C536614 one_to_one -MONDO:0008823 neurogenic arthrogryposis multiplex congenita MONDO MONDO:0015168,MONDO:0019117 subclass +MONDO:0008823 neurogenic arthrogryposis multiplex congenita MONDO MONDO:0002320,MONDO:0015168,MONDO:0019117 subclass MONDO:0008823 neurogenic arthrogryposis multiplex congenita OMIM OMIM:208100 one_to_one MONDO:0008823 neurogenic arthrogryposis multiplex congenita Orphanet Orphanet:1143 one_to_one MONDO:0008823 neurogenic arthrogryposis multiplex congenita SCTID SCTID:715316005 one_to_one @@ -51740,7 +51895,7 @@ MONDO:0008863 sitosterolemia UMLS UMLS:C0342907 one_to_one MONDO:0008863 sitosterolemia http http://identifiers.org/hgnc/13886,http://identifiers.org/hgnc/13887 disease_has_basis_in_dysfunction_of MONDO:0008864 Biemond syndrome type 2 GARD GARD:0000882 one_to_one MONDO:0008864 Biemond syndrome type 2 MESH MESH:C565902 one_to_one -MONDO:0008864 Biemond syndrome type 2 MONDO MONDO:0015159,MONDO:0015329,MONDO:0015983 subclass +MONDO:0008864 Biemond syndrome type 2 MONDO MONDO:0002320,MONDO:0015159,MONDO:0015329,MONDO:0015983 subclass MONDO:0008864 Biemond syndrome type 2 OMIM OMIM:210350 one_to_one MONDO:0008864 Biemond syndrome type 2 Orphanet Orphanet:141333 one_to_one MONDO:0008864 Biemond syndrome type 2 SCTID SCTID:717887003 one_to_one @@ -51885,17 +52040,17 @@ MONDO:0008883 brachydactyly, type A2, with microcephaly MESH MESH:C565894 one_to MONDO:0008883 brachydactyly, type A2, with microcephaly MONDO MONDO:0003847 subclass MONDO:0008883 brachydactyly, type A2, with microcephaly OMIM OMIM:211369 one_to_one MONDO:0008883 brachydactyly, type A2, with microcephaly UMLS UMLS:C1859393 one_to_one -MONDO:0008884 Oculoosteocutaneous syndrome ICD10 ICD10:Q87.5 inexact -MONDO:0008884 Oculoosteocutaneous syndrome MESH MESH:C565893 one_to_one -MONDO:0008884 Oculoosteocutaneous syndrome MONDO MONDO:0019287 subclass -MONDO:0008884 Oculoosteocutaneous syndrome OMIM OMIM:211370 one_to_one -MONDO:0008884 Oculoosteocutaneous syndrome Orphanet Orphanet:2713 one_to_one -MONDO:0008884 Oculoosteocutaneous syndrome SCTID SCTID:722061006 one_to_one -MONDO:0008884 Oculoosteocutaneous syndrome UMLS UMLS:C1859385 one_to_one +MONDO:0008884 oculoosteocutaneous syndrome ICD10 ICD10:Q87.5 inexact +MONDO:0008884 oculoosteocutaneous syndrome MESH MESH:C565893 one_to_one +MONDO:0008884 oculoosteocutaneous syndrome MONDO MONDO:0019287 subclass +MONDO:0008884 oculoosteocutaneous syndrome OMIM OMIM:211370 one_to_one +MONDO:0008884 oculoosteocutaneous syndrome Orphanet Orphanet:2713 one_to_one +MONDO:0008884 oculoosteocutaneous syndrome SCTID SCTID:722061006 one_to_one +MONDO:0008884 oculoosteocutaneous syndrome UMLS UMLS:C1859385 one_to_one MONDO:0008885 Branchioskeletogenital syndrome GARD GARD:0000955 one_to_one MONDO:0008885 Branchioskeletogenital syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008885 Branchioskeletogenital syndrome MESH MESH:C537084 one_to_one -MONDO:0008885 Branchioskeletogenital syndrome MONDO MONDO:0015159,MONDO:0015620,MONDO:0015983 subclass +MONDO:0008885 Branchioskeletogenital syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015620,MONDO:0015983 subclass MONDO:0008885 Branchioskeletogenital syndrome OMIM OMIM:211380 one_to_one MONDO:0008885 Branchioskeletogenital syndrome Orphanet Orphanet:1299 one_to_one MONDO:0008885 Branchioskeletogenital syndrome SCTID SCTID:719097002 one_to_one @@ -51961,7 +52116,7 @@ MONDO:0008892 progressive familial intrahepatic cholestasis type 1 http http://i MONDO:0008893 c syndrome GARD GARD:0005978 one_to_one MONDO:0008893 c syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008893 c syndrome MESH MESH:C537418 one_to_one -MONDO:0008893 c syndrome MONDO MONDO:0015159,MONDO:0015338,MONDO:0015983,MONDO:0043005 subclass +MONDO:0008893 c syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015338,MONDO:0015983,MONDO:0043005 subclass MONDO:0008893 c syndrome OMIM OMIM:211750 one_to_one MONDO:0008893 c syndrome Orphanet Orphanet:1308 one_to_one MONDO:0008893 c syndrome SCTID SCTID:715409005 one_to_one @@ -52072,11 +52227,11 @@ MONDO:0008908 MGAT2-CDG OMIM OMIM:212066 one_to_one MONDO:0008908 MGAT2-CDG Orphanet Orphanet:79329 one_to_one MONDO:0008908 MGAT2-CDG UMLS UMLS:C2931008 one_to_one MONDO:0008908 MGAT2-CDG http http://identifiers.org/hgnc/7045 disease_has_basis_in_dysfunction_of -MONDO:0008909 congenital disorder of glycosylation, type i/Iix GARD GARD:0009840 one_to_one -MONDO:0008909 congenital disorder of glycosylation, type i/Iix MESH MESH:C562844 one_to_one -MONDO:0008909 congenital disorder of glycosylation, type i/Iix MONDO MONDO:0003847 subclass -MONDO:0008909 congenital disorder of glycosylation, type i/Iix OMIM OMIM:212067 one_to_one -MONDO:0008909 congenital disorder of glycosylation, type i/Iix UMLS UMLS:C0349655 one_to_one +MONDO:0008909 congenital disorder of glycosylation, type i/IIx GARD GARD:0009840 one_to_one +MONDO:0008909 congenital disorder of glycosylation, type i/IIx MESH MESH:C562844 one_to_one +MONDO:0008909 congenital disorder of glycosylation, type i/IIx MONDO MONDO:0003847 subclass +MONDO:0008909 congenital disorder of glycosylation, type i/IIx OMIM OMIM:212067 one_to_one +MONDO:0008909 congenital disorder of glycosylation, type i/IIx UMLS UMLS:C0349655 one_to_one MONDO:0008910 carboxypeptidase N deficiency ICD9 ICD9:279.8 inexact MONDO:0008910 carboxypeptidase N deficiency MESH MESH:C562876 one_to_one MONDO:0008910 carboxypeptidase N deficiency MONDO MONDO:0003847 subclass @@ -52138,7 +52293,7 @@ MONDO:0008919 systemic primary carnitine deficiency disease GARD GARD:0005104 on MONDO:0008919 systemic primary carnitine deficiency disease ICD10 ICD10:E71.3,ICD10:E71.41,ICD10:E71.42 inexact MONDO:0008919 systemic primary carnitine deficiency disease ICD9 ICD9:277.81,ICD9:277.82 inexact MONDO:0008919 systemic primary carnitine deficiency disease MESH MESH:C536778 one_to_one -MONDO:0008919 systemic primary carnitine deficiency disease MONDO MONDO:0004736,MONDO:0016117,MONDO:0016336,MONDO:0017716 subclass +MONDO:0008919 systemic primary carnitine deficiency disease MONDO MONDO:0002320,MONDO:0004736,MONDO:0016117,MONDO:0016336,MONDO:0017716 subclass MONDO:0008919 systemic primary carnitine deficiency disease NCIT NCIT:C98864 one_to_one MONDO:0008919 systemic primary carnitine deficiency disease OMIM OMIM:212140 one_to_one MONDO:0008919 systemic primary carnitine deficiency disease Orphanet Orphanet:158 one_to_one @@ -52162,7 +52317,7 @@ MONDO:0008922 Sengers syndrome DOID DOID:0080132 one_to_one MONDO:0008922 Sengers syndrome GARD GARD:0001142 one_to_one MONDO:0008922 Sengers syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008922 Sengers syndrome MESH MESH:C538280 one_to_one -MONDO:0008922 Sengers syndrome MONDO MONDO:0015905,MONDO:0016327,MONDO:0016801,MONDO:0017133,MONDO:0018120,MONDO:0018158,MONDO:0020231 subclass +MONDO:0008922 Sengers syndrome MONDO MONDO:0002320,MONDO:0015905,MONDO:0016327,MONDO:0016801,MONDO:0017133,MONDO:0018120,MONDO:0018158,MONDO:0020231 subclass MONDO:0008922 Sengers syndrome OMIM OMIM:212350 one_to_one MONDO:0008922 Sengers syndrome Orphanet Orphanet:1369 one_to_one MONDO:0008922 Sengers syndrome SCTID SCTID:717812000 one_to_one @@ -52276,7 +52431,7 @@ MONDO:0008938 early-onset cerebellar ataxia with retained tendon reflexes UMLS U MONDO:0008939 isolated cerebellar hypoplasia/agenesis GARD GARD:0001194 one_to_one MONDO:0008939 isolated cerebellar hypoplasia/agenesis ICD10 ICD10:Q04.3 inexact MONDO:0008939 isolated cerebellar hypoplasia/agenesis MESH MESH:C562568 one_to_one -MONDO:0008939 isolated cerebellar hypoplasia/agenesis MONDO MONDO:0002320,MONDO:0015960,MONDO:0017114,MONDO:0019117 subclass +MONDO:0008939 isolated cerebellar hypoplasia/agenesis MONDO MONDO:0015960,MONDO:0017114,MONDO:0019117 subclass MONDO:0008939 isolated cerebellar hypoplasia/agenesis MedDRA MedDRA:10008033 one_to_one MONDO:0008939 isolated cerebellar hypoplasia/agenesis NCIT NCIT:C98890 one_to_one MONDO:0008939 isolated cerebellar hypoplasia/agenesis OMIM OMIM:213000 one_to_one @@ -52291,7 +52446,7 @@ MONDO:0008940 endosteal sclerosis-cerebellar hypoplasia syndrome Orphanet Orphan MONDO:0008940 endosteal sclerosis-cerebellar hypoplasia syndrome UMLS UMLS:C1859301 one_to_one MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome GARD GARD:0005177 one_to_one MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MESH MESH:C565867 one_to_one -MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO MONDO:0015508,MONDO:0015983,MONDO:0019741 subclass +MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015508,MONDO:0015983,MONDO:0019741 subclass MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome OMIM OMIM:213010 one_to_one MONDO:0008941 hepatic fibrosis-renal cysts-intellectual disability syndrome Orphanet Orphanet:2031 one_to_one MONDO:0008942 CPD2 MESH MESH:C565866 one_to_one @@ -52365,7 +52520,7 @@ MONDO:0008951 cerebrocortical degeneration of infancy UMLS UMLS:C1859257 one_to_ MONDO:0008952 cerebrofaciothoracic dysplasia GARD GARD:0001210 one_to_one MONDO:0008952 cerebrofaciothoracic dysplasia ICD10 ICD10:Q87.5 inexact MONDO:0008952 cerebrofaciothoracic dysplasia MESH MESH:C565862 one_to_one -MONDO:0008952 cerebrofaciothoracic dysplasia MONDO MONDO:0015159,MONDO:0015983,MONDO:0019711,MONDO:0043005 subclass +MONDO:0008952 cerebrofaciothoracic dysplasia MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019711,MONDO:0043005 subclass MONDO:0008952 cerebrofaciothoracic dysplasia OMIM OMIM:213980 one_to_one MONDO:0008952 cerebrofaciothoracic dysplasia Orphanet Orphanet:1394 one_to_one MONDO:0008952 cerebrofaciothoracic dysplasia SCTID SCTID:720635002 one_to_one @@ -52441,7 +52596,7 @@ MONDO:0008964 congenital secretory chloride diarrhea 1 GO GO:0015108 disease_has MONDO:0008964 congenital secretory chloride diarrhea 1 ICD10 ICD10:P78.3 inexact MONDO:0008964 congenital secretory chloride diarrhea 1 ICD9 ICD9:579.8 inexact MONDO:0008964 congenital secretory chloride diarrhea 1 MESH MESH:C536210 one_to_one -MONDO:0008964 congenital secretory chloride diarrhea 1 MONDO MONDO:0000249,MONDO:0000824,MONDO:0015178 subclass +MONDO:0008964 congenital secretory chloride diarrhea 1 MONDO MONDO:0000249,MONDO:0015178,MONDO:0045032 subclass MONDO:0008964 congenital secretory chloride diarrhea 1 OMIM OMIM:214700 one_to_one MONDO:0008964 congenital secretory chloride diarrhea 1 Orphanet Orphanet:53689 one_to_one MONDO:0008964 congenital secretory chloride diarrhea 1 SCTID SCTID:24412005 one_to_one @@ -52603,7 +52758,7 @@ MONDO:0008982 central areolar choroidal dystrophy DC DC:0000084 one_to_one MONDO:0008982 central areolar choroidal dystrophy GARD GARD:0010049 one_to_one MONDO:0008982 central areolar choroidal dystrophy ICD10 ICD10:H31.2 inexact MONDO:0008982 central areolar choroidal dystrophy ICD9 ICD9:363.54 inexact -MONDO:0008982 central areolar choroidal dystrophy MONDO MONDO:0004885,MONDO:0015952,MONDO:0016517,MONDO:0020243 subclass +MONDO:0008982 central areolar choroidal dystrophy MONDO MONDO:0004885,MONDO:0016517,MONDO:0020243,MONDO:0024237 subclass MONDO:0008982 central areolar choroidal dystrophy OMIMPS OMIMPS:215500 one_to_one MONDO:0008982 central areolar choroidal dystrophy Orphanet Orphanet:75377 one_to_one MONDO:0008982 central areolar choroidal dystrophy SCTID SCTID:231996009,SCTID:312918002 inexact @@ -52696,7 +52851,7 @@ MONDO:0008999 Cohen syndrome GARD GARD:0006126 one_to_one MONDO:0008999 Cohen syndrome ICD10 ICD10:Q87.8 inexact MONDO:0008999 Cohen syndrome ICD9 ICD9:759.89 inexact MONDO:0008999 Cohen syndrome MESH MESH:C536438 one_to_one -MONDO:0008999 Cohen syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016565,MONDO:0018032,MONDO:0020208,MONDO:0020240 subclass +MONDO:0008999 Cohen syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016565,MONDO:0018032,MONDO:0019052,MONDO:0020208,MONDO:0020240,MONDO:0043005 subclass MONDO:0008999 Cohen syndrome MedDRA MedDRA:10049066 one_to_one MONDO:0008999 Cohen syndrome OMIM OMIM:216550 one_to_one MONDO:0008999 Cohen syndrome Orphanet Orphanet:193 one_to_one @@ -52712,7 +52867,7 @@ MONDO:0009000 familial reactive perforating collagenosis Orphanet Orphanet:79147 MONDO:0009000 familial reactive perforating collagenosis UMLS UMLS:C1857624 one_to_one MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome MESH MESH:C565686 one_to_one -MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome MONDO MONDO:0015218,MONDO:0015335,MONDO:0020243 subclass +MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome MONDO MONDO:0015218,MONDO:0015335,MONDO:0015958,MONDO:0020243 subclass MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome OMIM OMIM:216800 one_to_one MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome Orphanet Orphanet:91494 one_to_one MONDO:0009001 macular coloboma-cleft palate-hallux valgus syndrome SCTID SCTID:722463001 one_to_one @@ -52784,7 +52939,7 @@ MONDO:0009011 constriction rings syndrome Orphanet Orphanet:295000 one_to_one MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome GARD GARD:0003361 one_to_one MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome MESH MESH:C565679 one_to_one -MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome MONDO MONDO:0015168,MONDO:0015501,MONDO:0018753,MONDO:0019117 subclass +MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome MONDO MONDO:0002320,MONDO:0015168,MONDO:0015501,MONDO:0018753,MONDO:0019117 subclass MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome OMIM OMIM:217150 one_to_one MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome Orphanet Orphanet:2215 one_to_one MONDO:0009012 multiple pterygium-malignant hyperthermia syndrome UMLS UMLS:C1857576 one_to_one @@ -52861,7 +53016,7 @@ MONDO:0009022 corpus callosum, agenesis of OMIM OMIM:217990 one_to_one MONDO:0009022 corpus callosum, agenesis of SCTID SCTID:5102002 one_to_one MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome GARD GARD:0001548 one_to_one MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome MESH MESH:C565674 one_to_one -MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0020262 subclass +MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0020262 subclass MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome OMIM OMIM:218010 one_to_one MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome Orphanet Orphanet:1389 one_to_one MONDO:0009024 cortical blindness-intellectual disability-polydactyly syndrome UMLS UMLS:C1857568 one_to_one @@ -52869,7 +53024,8 @@ MONDO:0009025 apparent mineralocorticoid excess DOID DOID:0090121 one_to_one MONDO:0009025 apparent mineralocorticoid excess GARD GARD:0000433 one_to_one MONDO:0009025 apparent mineralocorticoid excess ICD10 ICD10:E26.1 one_to_one MONDO:0009025 apparent mineralocorticoid excess MESH MESH:C537422 one_to_one -MONDO:0009025 apparent mineralocorticoid excess MONDO MONDO:0006640,MONDO:0015124,MONDO:0015512,MONDO:0015971 subclass +MONDO:0009025 apparent mineralocorticoid excess MONDO MONDO:0006640 excluded_subClassOf +MONDO:0009025 apparent mineralocorticoid excess MONDO MONDO:0015124,MONDO:0015512,MONDO:0015971 subclass MONDO:0009025 apparent mineralocorticoid excess NCIT NCIT:C131083 one_to_one MONDO:0009025 apparent mineralocorticoid excess OMIM OMIM:218030 one_to_one MONDO:0009025 apparent mineralocorticoid excess Orphanet Orphanet:320 one_to_one @@ -52881,7 +53037,7 @@ MONDO:0009026 Costello syndrome GARD GARD:0001550 one_to_one MONDO:0009026 Costello syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009026 Costello syndrome ICD9 ICD9:799.89 inexact MONDO:0009026 Costello syndrome MESH MESH:D056685 one_to_one -MONDO:0009026 Costello syndrome MONDO MONDO:0000426,MONDO:0015159,MONDO:0015331,MONDO:0015945,MONDO:0015983,MONDO:0018792,MONDO:0019292,MONDO:0020297,MONDO:0043005 subclass +MONDO:0009026 Costello syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015331,MONDO:0015945,MONDO:0015983,MONDO:0018792,MONDO:0019292,MONDO:0020297,MONDO:0043005 subclass MONDO:0009026 Costello syndrome MedDRA MedDRA:10067380 one_to_one MONDO:0009026 Costello syndrome NCIT NCIT:C84652 one_to_one MONDO:0009026 Costello syndrome OMIM OMIM:218040 one_to_one @@ -52894,7 +53050,7 @@ MONDO:0009027 cramps, familial adolescent OMIM OMIM:218050 one_to_one MONDO:0009028 Crane-Heise syndrome GARD GARD:0008428 one_to_one MONDO:0009028 Crane-Heise syndrome ICD10 ICD10:Q87.5 inexact MONDO:0009028 Crane-Heise syndrome MESH MESH:C536452 one_to_one -MONDO:0009028 Crane-Heise syndrome MONDO MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass +MONDO:0009028 Crane-Heise syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass MONDO:0009028 Crane-Heise syndrome OMIM OMIM:218090 one_to_one MONDO:0009028 Crane-Heise syndrome Orphanet Orphanet:1512 one_to_one MONDO:0009028 Crane-Heise syndrome SCTID SCTID:715991005 one_to_one @@ -52954,7 +53110,7 @@ MONDO:0009035 craniometaphyseal dysplasia, autosomal recessive http http://ident MONDO:0009036 cardiocranial syndrome, Pfeiffer type GARD GARD:0008586 one_to_one MONDO:0009036 cardiocranial syndrome, Pfeiffer type ICD10 ICD10:Q87.8 inexact MONDO:0009036 cardiocranial syndrome, Pfeiffer type MESH MESH:C535578 one_to_one -MONDO:0009036 cardiocranial syndrome, Pfeiffer type MONDO MONDO:0015159,MONDO:0015338,MONDO:0015983,MONDO:0043005 subclass +MONDO:0009036 cardiocranial syndrome, Pfeiffer type MONDO MONDO:0002320,MONDO:0015159,MONDO:0015338,MONDO:0015983,MONDO:0043005 subclass MONDO:0009036 cardiocranial syndrome, Pfeiffer type OMIM OMIM:218450 one_to_one MONDO:0009036 cardiocranial syndrome, Pfeiffer type Orphanet Orphanet:2872 one_to_one MONDO:0009036 cardiocranial syndrome, Pfeiffer type SCTID SCTID:720606005 one_to_one @@ -52998,7 +53154,7 @@ MONDO:0009042 craniotelencephalic dysplasia Orphanet Orphanet:1528 one_to_one MONDO:0009042 craniotelencephalic dysplasia SCTID SCTID:715422002 one_to_one MONDO:0009042 craniotelencephalic dysplasia UMLS UMLS:C1857471 one_to_one MONDO:0009043 generalized resistance to thyroid hormone ICD10 ICD10:E07.8 one_to_one -MONDO:0009043 generalized resistance to thyroid hormone MONDO MONDO:0001328,MONDO:0015893,MONDO:0015894 subclass +MONDO:0009043 generalized resistance to thyroid hormone MONDO MONDO:0001328,MONDO:0015894 subclass MONDO:0009043 generalized resistance to thyroid hormone Orphanet Orphanet:3221 one_to_one MONDO:0009043 generalized resistance to thyroid hormone http http://identifiers.org/hgnc/8622 disease_has_basis_in_dysfunction_of MONDO:0009044 Crigler-Najjar syndrome DOID DOID:3803 one_to_one @@ -53013,7 +53169,7 @@ MONDO:0009044 Crigler-Najjar syndrome UMLS UMLS:C0010324,UMLS:CN119421 inexact MONDO:0009045 cataract-nephropathy-encephalopathy syndrome GARD GARD:0001614 one_to_one MONDO:0009045 cataract-nephropathy-encephalopathy syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009045 cataract-nephropathy-encephalopathy syndrome MESH MESH:C536216 one_to_one -MONDO:0009045 cataract-nephropathy-encephalopathy syndrome MONDO MONDO:0015983,MONDO:0019721 subclass +MONDO:0009045 cataract-nephropathy-encephalopathy syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0019721 subclass MONDO:0009045 cataract-nephropathy-encephalopathy syndrome OMIM OMIM:218900 one_to_one MONDO:0009045 cataract-nephropathy-encephalopathy syndrome Orphanet Orphanet:1380 one_to_one MONDO:0009045 cataract-nephropathy-encephalopathy syndrome SCTID SCTID:722381004 one_to_one @@ -53047,24 +53203,24 @@ MONDO:0009048 curved nail of fourth toe OMIM OMIM:219070 one_to_one MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia GARD GARD:0010824 one_to_one MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia ICD10 ICD10:E24.8 inexact MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MESH MESH:C565662 one_to_one -MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MONDO MONDO:0015971,MONDO:0018406,MONDO:0018412,MONDO:0020529 subclass +MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia MONDO MONDO:0015971,MONDO:0018387,MONDO:0018406,MONDO:0020529 subclass MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia OMIM OMIM:219080 one_to_one MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia Orphanet Orphanet:189427 one_to_one MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia SCTID SCTID:720459002 one_to_one MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia UMLS UMLS:C1857451,UMLS:C2062388,UMLS:CN200644 inexact MONDO:0009049 Cushing syndrome due to macronodular adrenal hyperplasia http http://identifiers.org/hgnc/4392 disease_has_basis_in_dysfunction_of -MONDO:0009050 ACTH-secreting pituitary adenoma DOID DOID:7004 one_to_one -MONDO:0009050 ACTH-secreting pituitary adenoma GARD GARD:0012867 one_to_one -MONDO:0009050 ACTH-secreting pituitary adenoma ICD10 ICD10:D35.2,ICD10:E24.0 inexact -MONDO:0009050 ACTH-secreting pituitary adenoma MESH MESH:D049913 one_to_one -MONDO:0009050 ACTH-secreting pituitary adenoma MONDO MONDO:0003429,MONDO:0015513,MONDO:0018729,MONDO:0019117,MONDO:0020528,MONDO:0043218 subclass -MONDO:0009050 ACTH-secreting pituitary adenoma MedDRA MedDRA:10035109 inexact -MONDO:0009050 ACTH-secreting pituitary adenoma NCIT NCIT:C113210 one_to_one -MONDO:0009050 ACTH-secreting pituitary adenoma OMIM OMIM:219090 one_to_one -MONDO:0009050 ACTH-secreting pituitary adenoma Orphanet Orphanet:96253 one_to_one -MONDO:0009050 ACTH-secreting pituitary adenoma SCTID SCTID:254958004 one_to_one -MONDO:0009050 ACTH-secreting pituitary adenoma UMLS UMLS:C0221406,UMLS:C1306214 inexact -MONDO:0009050 ACTH-secreting pituitary adenoma http http://identifiers.org/hgnc/12631,http://identifiers.org/hgnc/358 disease_has_basis_in_dysfunction_of +MONDO:0009050 Cushing disease due to pituitary adenoma DOID DOID:7004 one_to_one +MONDO:0009050 Cushing disease due to pituitary adenoma GARD GARD:0012867 one_to_one +MONDO:0009050 Cushing disease due to pituitary adenoma ICD10 ICD10:D35.2,ICD10:E24.0 inexact +MONDO:0009050 Cushing disease due to pituitary adenoma MESH MESH:D049913 one_to_one +MONDO:0009050 Cushing disease due to pituitary adenoma MONDO MONDO:0003429,MONDO:0020528 subclass +MONDO:0009050 Cushing disease due to pituitary adenoma MedDRA MedDRA:10035109 inexact +MONDO:0009050 Cushing disease due to pituitary adenoma NCIT NCIT:C113210 one_to_one +MONDO:0009050 Cushing disease due to pituitary adenoma OMIM OMIM:219090 one_to_one +MONDO:0009050 Cushing disease due to pituitary adenoma Orphanet Orphanet:96253 one_to_one +MONDO:0009050 Cushing disease due to pituitary adenoma SCTID SCTID:254958004 one_to_one +MONDO:0009050 Cushing disease due to pituitary adenoma UMLS UMLS:C0221406,UMLS:C1306214 inexact +MONDO:0009050 Cushing disease due to pituitary adenoma http http://identifiers.org/hgnc/12631,http://identifiers.org/hgnc/358 disease_has_basis_in_dysfunction_of MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome GARD GARD:0001633 one_to_one MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome ICD10 ICD10:L57.8 inexact MONDO:0009051 cutaneous photosensitivity-lethal colitis syndrome MESH MESH:C536224 one_to_one @@ -53161,7 +53317,7 @@ MONDO:0009063 ventriculomegaly-cystic kidney disease UMLS UMLS:C1857423 one_to_o MONDO:0009063 ventriculomegaly-cystic kidney disease http http://identifiers.org/hgnc/18688 disease_has_basis_in_dysfunction_of MONDO:0009064 ocular cystinosis ICD10 ICD10:E72.0 inexact MONDO:0009064 ocular cystinosis MESH MESH:C535765 one_to_one -MONDO:0009064 ocular cystinosis MONDO MONDO:0016239,MONDO:0020279,MONDO:0020281 subclass +MONDO:0009064 ocular cystinosis MONDO MONDO:0002320,MONDO:0016239,MONDO:0020279,MONDO:0020281 subclass MONDO:0009064 ocular cystinosis OMIM OMIM:219750 one_to_one MONDO:0009064 ocular cystinosis Orphanet Orphanet:411641 one_to_one MONDO:0009064 ocular cystinosis UMLS UMLS:C2931013 one_to_one @@ -53380,7 +53536,7 @@ MONDO:0009093 Dermatoleukodystrophy UMLS UMLS:C1857314 one_to_one MONDO:0009094 Dermochondrocorneal dystrophy GARD GARD:0001815 one_to_one MONDO:0009094 Dermochondrocorneal dystrophy ICD9 ICD9:379.99 one_to_one MONDO:0009094 Dermochondrocorneal dystrophy MESH MESH:C535375 one_to_one -MONDO:0009094 Dermochondrocorneal dystrophy MONDO MONDO:0018798,MONDO:0019295,MONDO:0020215 subclass +MONDO:0009094 Dermochondrocorneal dystrophy MONDO MONDO:0002320,MONDO:0018798,MONDO:0019295,MONDO:0020215 subclass MONDO:0009094 Dermochondrocorneal dystrophy OMIM OMIM:221800 one_to_one MONDO:0009094 Dermochondrocorneal dystrophy Orphanet Orphanet:79149 one_to_one MONDO:0009094 Dermochondrocorneal dystrophy SCTID SCTID:254150007 one_to_one @@ -53453,7 +53609,7 @@ MONDO:0009106 diastematomyelia COHD COHD:139132 one_to_one MONDO:0009106 diastematomyelia GARD GARD:0001851 one_to_one MONDO:0009106 diastematomyelia ICD10 ICD10:Q06.2 one_to_one MONDO:0009106 diastematomyelia ICD9 ICD9:742.51 one_to_one -MONDO:0009106 diastematomyelia MONDO MONDO:0002320,MONDO:0017085 subclass +MONDO:0009106 diastematomyelia MONDO MONDO:0017085 subclass MONDO:0009106 diastematomyelia MedDRA MedDRA:10012750 one_to_one MONDO:0009106 diastematomyelia NCIT NCIT:C98913 one_to_one MONDO:0009106 diastematomyelia OMIM OMIM:222500 one_to_one @@ -53589,7 +53745,7 @@ MONDO:0009123 dopamine beta-hydroxylase deficiency GARD GARD:0001903,GARD:1903 i MONDO:0009123 dopamine beta-hydroxylase deficiency ICD10 ICD10:G90.8 inexact MONDO:0009123 dopamine beta-hydroxylase deficiency ICD9 ICD9:270.8 inexact MONDO:0009123 dopamine beta-hydroxylase deficiency MESH MESH:C535600 one_to_one -MONDO:0009123 dopamine beta-hydroxylase deficiency MONDO MONDO:0015914,MONDO:0017759,MONDO:0019058,MONDO:0020169 subclass +MONDO:0009123 dopamine beta-hydroxylase deficiency MONDO MONDO:0002320,MONDO:0015914,MONDO:0017759,MONDO:0019058,MONDO:0020169 subclass MONDO:0009123 dopamine beta-hydroxylase deficiency OMIM OMIM:223360 one_to_one MONDO:0009123 dopamine beta-hydroxylase deficiency Orphanet Orphanet:230 one_to_one MONDO:0009123 dopamine beta-hydroxylase deficiency SCTID SCTID:237923004 one_to_one @@ -53601,7 +53757,7 @@ MONDO:0009124 Dubowitz syndrome HP HP:0000252,HP:0000278 disease_has_feature MONDO:0009124 Dubowitz syndrome ICD10 ICD10:Q87.1 inexact MONDO:0009124 Dubowitz syndrome ICD9 ICD9:742.8 inexact MONDO:0009124 Dubowitz syndrome MESH MESH:C535718 one_to_one -MONDO:0009124 Dubowitz syndrome MONDO MONDO:0015159,MONDO:0015329,MONDO:0015983,MONDO:0019287,MONDO:0020169,MONDO:0043005 subclass +MONDO:0009124 Dubowitz syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015329,MONDO:0015983,MONDO:0019287,MONDO:0020169,MONDO:0043005 subclass MONDO:0009124 Dubowitz syndrome MedDRA MedDRA:10059589 one_to_one MONDO:0009124 Dubowitz syndrome NCIT NCIT:C125591 one_to_one MONDO:0009124 Dubowitz syndrome OMIM OMIM:223370 one_to_one @@ -53827,7 +53983,7 @@ MONDO:0009154 hypothyroidism, congenital, nongoitrous, 5 http http://identifiers MONDO:0009155 EEM syndrome GARD GARD:0002078 one_to_one MONDO:0009155 EEM syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009155 EEM syndrome MESH MESH:C536190 one_to_one -MONDO:0009155 EEM syndrome MONDO MONDO:0004589,MONDO:0017432,MONDO:0018455,MONDO:0019287,MONDO:0020242 subclass +MONDO:0009155 EEM syndrome MONDO MONDO:0017432,MONDO:0018455,MONDO:0019287,MONDO:0020242 subclass MONDO:0009155 EEM syndrome OMIM OMIM:225280 one_to_one MONDO:0009155 EEM syndrome Orphanet Orphanet:1897 one_to_one MONDO:0009155 EEM syndrome SCTID SCTID:720856002 one_to_one @@ -53906,7 +54062,7 @@ MONDO:0009166 pontocerebellar hypoplasia type 4 http http://identifiers.org/hgnc MONDO:0009167 Bonnemann-Meinecke-Reich syndrome GARD GARD:0002113 one_to_one MONDO:0009167 Bonnemann-Meinecke-Reich syndrome ICD10 ICD10:Q04.8 inexact MONDO:0009167 Bonnemann-Meinecke-Reich syndrome MESH MESH:C565594 one_to_one -MONDO:0009167 Bonnemann-Meinecke-Reich syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0009167 Bonnemann-Meinecke-Reich syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0009167 Bonnemann-Meinecke-Reich syndrome OMIM OMIM:225755 one_to_one MONDO:0009167 Bonnemann-Meinecke-Reich syndrome Orphanet Orphanet:1261 one_to_one MONDO:0009167 Bonnemann-Meinecke-Reich syndrome UMLS UMLS:C1856973 one_to_one @@ -54008,7 +54164,7 @@ MONDO:0009179 recessive dystrophic epidermolysis bullosa DOID DOID:0060642 one_t MONDO:0009179 recessive dystrophic epidermolysis bullosa GARD GARD:0006308 one_to_one MONDO:0009179 recessive dystrophic epidermolysis bullosa ICD10 ICD10:Q81.2 inexact MONDO:0009179 recessive dystrophic epidermolysis bullosa ICD9 ICD9:757.39 inexact -MONDO:0009179 recessive dystrophic epidermolysis bullosa MONDO MONDO:0006543,MONDO:0016997,MONDO:0017608 subclass +MONDO:0009179 recessive dystrophic epidermolysis bullosa MONDO MONDO:0002320,MONDO:0006543,MONDO:0016997,MONDO:0017608 subclass MONDO:0009179 recessive dystrophic epidermolysis bullosa OMIM OMIM:226600 one_to_one MONDO:0009179 recessive dystrophic epidermolysis bullosa Orphanet Orphanet:79408 one_to_one MONDO:0009179 recessive dystrophic epidermolysis bullosa SCTID SCTID:48528004 one_to_one @@ -54033,7 +54189,7 @@ MONDO:0009181 epidermolysis bullosa simplex with muscular dystrophy http http:// MONDO:0009182 junctional epidermolysis bullosa Herlitz type DOID DOID:0060737 one_to_one MONDO:0009182 junctional epidermolysis bullosa Herlitz type GARD GARD:0002153 one_to_one MONDO:0009182 junctional epidermolysis bullosa Herlitz type ICD10 ICD10:Q81.1 inexact -MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO MONDO:0016997,MONDO:0017612 subclass +MONDO:0009182 junctional epidermolysis bullosa Herlitz type MONDO MONDO:0002320,MONDO:0016997,MONDO:0017612 subclass MONDO:0009182 junctional epidermolysis bullosa Herlitz type OMIM OMIM:226700 one_to_one MONDO:0009182 junctional epidermolysis bullosa Herlitz type Orphanet Orphanet:79404 one_to_one MONDO:0009182 junctional epidermolysis bullosa Herlitz type SCTID SCTID:400140006 one_to_one @@ -54072,7 +54228,7 @@ MONDO:0009187 celiac disease-epilepsy-cerebral calcification syndrome UMLS UMLS: MONDO:0009188 epilepsy-telangiectasia syndrome GARD GARD:0002168 one_to_one MONDO:0009188 epilepsy-telangiectasia syndrome ICD10 ICD10:G40.8 inexact MONDO:0009188 epilepsy-telangiectasia syndrome MESH MESH:C535497 one_to_one -MONDO:0009188 epilepsy-telangiectasia syndrome MONDO MONDO:0015159,MONDO:0015650,MONDO:0015983 subclass +MONDO:0009188 epilepsy-telangiectasia syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015650,MONDO:0015983 subclass MONDO:0009188 epilepsy-telangiectasia syndrome OMIM OMIM:226850 one_to_one MONDO:0009188 epilepsy-telangiectasia syndrome Orphanet Orphanet:1951 one_to_one MONDO:0009188 epilepsy-telangiectasia syndrome UMLS UMLS:C1856929 one_to_one @@ -54279,7 +54435,7 @@ MONDO:0009218 Farber lipogranulomatosis GARD GARD:0006426 one_to_one MONDO:0009218 Farber lipogranulomatosis ICD10 ICD10:E75.2 inexact MONDO:0009218 Farber lipogranulomatosis ICD9 ICD9:272.8 inexact MONDO:0009218 Farber lipogranulomatosis MESH MESH:D055577 one_to_one -MONDO:0009218 Farber lipogranulomatosis MONDO MONDO:0004589,MONDO:0015949,MONDO:0018299,MONDO:0019058,MONDO:0019296,MONDO:0020244 subclass +MONDO:0009218 Farber lipogranulomatosis MONDO MONDO:0015949,MONDO:0018299,MONDO:0019058,MONDO:0019296,MONDO:0020244 subclass MONDO:0009218 Farber lipogranulomatosis NCIT NCIT:C84710 one_to_one MONDO:0009218 Farber lipogranulomatosis OMIM OMIM:228000 one_to_one MONDO:0009218 Farber lipogranulomatosis Orphanet Orphanet:333 one_to_one @@ -54465,7 +54621,7 @@ MONDO:0009241 fountain syndrome UMLS UMLS:C0795944 one_to_one MONDO:0009242 brittle cornea syndrome DOID DOID:14775 one_to_one MONDO:0009242 brittle cornea syndrome GARD GARD:0001019 one_to_one MONDO:0009242 brittle cornea syndrome ICD10 ICD10:Q79.6 inexact -MONDO:0009242 brittle cornea syndrome MONDO MONDO:0000942,MONDO:0006025,MONDO:0020066,MONDO:0020272 subclass +MONDO:0009242 brittle cornea syndrome MONDO MONDO:0000942,MONDO:0002320,MONDO:0006025,MONDO:0020066,MONDO:0020272 subclass MONDO:0009242 brittle cornea syndrome OMIMPS OMIMPS:229200 one_to_one MONDO:0009242 brittle cornea syndrome Orphanet Orphanet:90354 one_to_one MONDO:0009242 brittle cornea syndrome SCTID SCTID:719096006 one_to_one @@ -54544,7 +54700,7 @@ MONDO:0009253 Fryns syndrome GARD GARD:0003699 one_to_one MONDO:0009253 Fryns syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009253 Fryns syndrome ICD9 ICD9:759.89 inexact MONDO:0009253 Fryns syndrome MESH MESH:C538070 one_to_one -MONDO:0009253 Fryns syndrome MONDO MONDO:0015159,MONDO:0015216,MONDO:0015983 subclass +MONDO:0009253 Fryns syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015216,MONDO:0015983 subclass MONDO:0009253 Fryns syndrome NCIT NCIT:C98932 one_to_one MONDO:0009253 Fryns syndrome OMIM OMIM:229850 one_to_one MONDO:0009253 Fryns syndrome Orphanet Orphanet:2059 one_to_one @@ -54620,7 +54776,7 @@ MONDO:0009262 GM1 gangliosidosis type 3 Orphanet Orphanet:79257 one_to_one MONDO:0009262 GM1 gangliosidosis type 3 SCTID SCTID:238027003 one_to_one MONDO:0009263 gapo syndrome GARD GARD:0000400 one_to_one MONDO:0009263 gapo syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0009263 gapo syndrome MONDO MONDO:0015159,MONDO:0015336,MONDO:0015983,MONDO:0018609,MONDO:0019287,MONDO:0043005 subclass +MONDO:0009263 gapo syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015336,MONDO:0015983,MONDO:0018609,MONDO:0019287,MONDO:0043005 subclass MONDO:0009263 gapo syndrome OMIM OMIM:230740 one_to_one MONDO:0009263 gapo syndrome Orphanet Orphanet:2067 one_to_one MONDO:0009263 gapo syndrome SCTID SCTID:721843003 one_to_one @@ -54632,7 +54788,7 @@ MONDO:0009264 gastroschisis GARD GARD:0008661 one_to_one MONDO:0009264 gastroschisis ICD10 ICD10:Q79.3 one_to_one MONDO:0009264 gastroschisis ICD9 ICD9:756.73 one_to_one MONDO:0009264 gastroschisis MESH MESH:D020139 one_to_one -MONDO:0009264 gastroschisis MONDO MONDO:0000839,MONDO:0015215,MONDO:0015960,MONDO:0018241 subclass +MONDO:0009264 gastroschisis MONDO MONDO:0015215,MONDO:0015960,MONDO:0018241 subclass MONDO:0009264 gastroschisis MedDRA MedDRA:10018046 one_to_one MONDO:0009264 gastroschisis NCIT NCIT:C84725 one_to_one MONDO:0009264 gastroschisis OMIM OMIM:230750 one_to_one @@ -54732,7 +54888,8 @@ MONDO:0009276 Bernard-Soulier syndrome UMLS UMLS:C0005129 one_to_one MONDO:0009276 Bernard-Soulier syndrome http http://identifiers.org/hgnc/4439,http://identifiers.org/hgnc/4440,http://identifiers.org/hgnc/4444 disease_has_basis_in_dysfunction_of MONDO:0009277 glaucoma 3A DOID DOID:11211 one_to_one MONDO:0009277 glaucoma 3A ICD9 ICD9:743.21 one_to_one -MONDO:0009277 glaucoma 3A MONDO MONDO:0006788 subclass +MONDO:0009277 glaucoma 3A MONDO MONDO:0006788 excluded_subClassOf +MONDO:0009277 glaucoma 3A MONDO MONDO:0020366 subclass MONDO:0009277 glaucoma 3A NCIT NCIT:C148260 one_to_one MONDO:0009277 glaucoma 3A OMIM OMIM:231300 one_to_one MONDO:0009277 glaucoma 3A http http://identifiers.org/hgnc/2597 disease_has_basis_in_dysfunction_of @@ -54749,7 +54906,7 @@ MONDO:0009279 triple-A syndrome GARD GARD:0000457 one_to_one MONDO:0009279 triple-A syndrome ICD10 ICD10:E27.4 inexact MONDO:0009279 triple-A syndrome ICD9 ICD9:255.41 inexact MONDO:0009279 triple-A syndrome MESH MESH:C536008 one_to_one -MONDO:0009279 triple-A syndrome MONDO MONDO:0006025,MONDO:0015129,MONDO:0015208,MONDO:0015971,MONDO:0016132,MONDO:0020194 subclass +MONDO:0009279 triple-A syndrome MONDO MONDO:0002320,MONDO:0006025,MONDO:0015129,MONDO:0015208,MONDO:0015971,MONDO:0016132,MONDO:0020194 subclass MONDO:0009279 triple-A syndrome NCIT NCIT:C131005 one_to_one MONDO:0009279 triple-A syndrome OMIM OMIM:231550 one_to_one MONDO:0009279 triple-A syndrome Orphanet Orphanet:869 one_to_one @@ -54774,7 +54931,7 @@ MONDO:0009281 glutaryl-CoA dehydrogenase deficiency http http://identifiers.org/ MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency DOID DOID:0060358 one_to_one MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency GARD GARD:0006523 one_to_one MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency ICD10 ICD10:E71.3,ICD10:E71.313 inexact -MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO MONDO:0000129,MONDO:0016117,MONDO:0016328,MONDO:0017714 subclass +MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency MONDO MONDO:0000129,MONDO:0002320,MONDO:0016117,MONDO:0016328,MONDO:0017714 subclass MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency NCIT NCIT:C84907 one_to_one MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency OMIM OMIM:231680 one_to_one MONDO:0009282 multiple acyl-CoA dehydrogenase deficiency Orphanet Orphanet:26791 one_to_one @@ -54812,30 +54969,32 @@ MONDO:0009286 gluteal muscles, absence of GARD GARD:0008518 one_to_one MONDO:0009286 gluteal muscles, absence of MESH MESH:C535561 one_to_one MONDO:0009286 gluteal muscles, absence of MONDO MONDO:0003847 subclass MONDO:0009286 gluteal muscles, absence of OMIM OMIM:231970 one_to_one -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type Ia GARD GARD:0007864 one_to_one -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type Ia ICD10 ICD10:E74.0 inexact -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type Ia MONDO MONDO:0002413,MONDO:0018220 subclass -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type Ia OMIM OMIM:232200 one_to_one -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type Ia Orphanet Orphanet:79258 one_to_one -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type Ia SCTID SCTID:444707001 one_to_one -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type Ia UMLS UMLS:C2919796,UMLS:CN069618,UMLS:CN205860 inexact -MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type Ia http http://identifiers.org/hgnc/4056 disease_has_basis_in_dysfunction_of +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA GARD GARD:0007864 one_to_one +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA GO GO:0004346 disease_has_basis_in_disruption_of +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA ICD10 ICD10:E74.0 inexact +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA MONDO MONDO:0002412,MONDO:0002413 subclass +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA OMIM OMIM:232200 one_to_one +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA Orphanet Orphanet:79258 one_to_one +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA SCTID SCTID:444707001 one_to_one +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA UMLS UMLS:C2919796,UMLS:CN069618,UMLS:CN205860 inexact +MONDO:0009287 glycogen storage disease due to glucose-6-phosphatase deficiency type IA http http://identifiers.org/hgnc/4056 disease_has_basis_in_dysfunction_of MONDO:0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB GARD GARD:0002515 one_to_one +MONDO:0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB GO GO:0015152 disease_has_basis_in_disruption_of MONDO:0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB ICD10 ICD10:E74.0 inexact MONDO:0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB MESH MESH:C562594 one_to_one -MONDO:0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB MONDO MONDO:0002413,MONDO:0018032,MONDO:0023258 subclass +MONDO:0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB MONDO MONDO:0018032,MONDO:0023258,MONDO:0044975 subclass MONDO:0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB NCIT NCIT:C122661 one_to_one MONDO:0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB OMIM OMIM:232220 one_to_one MONDO:0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB Orphanet Orphanet:79259 one_to_one MONDO:0009288 glycogen storage disease due to glucose-6-phosphatase deficiency type IB SCTID SCTID:30102006 one_to_one -MONDO:0009289 glycogen storage disease Ic MONDO MONDO:0023258 subclass -MONDO:0009289 glycogen storage disease Ic OMIM OMIM:232240 one_to_one -MONDO:0009289 glycogen storage disease Ic SCTID SCTID:237965005 one_to_one -MONDO:0009289 glycogen storage disease Ic UMLS UMLS:C0342749 one_to_one +MONDO:0009289 glycogen storage disease IC MONDO MONDO:0023258 subclass +MONDO:0009289 glycogen storage disease IC OMIM OMIM:232240 one_to_one +MONDO:0009289 glycogen storage disease IC SCTID SCTID:237965005 one_to_one +MONDO:0009289 glycogen storage disease IC UMLS UMLS:C0342749 one_to_one MONDO:0009290 glycogen storage disease II DOID DOID:2752 one_to_one MONDO:0009290 glycogen storage disease II GARD GARD:0002503,GARD:0005714 inexact MONDO:0009290 glycogen storage disease II ICD10 ICD10:E74.0,ICD10:E74.02 inexact -MONDO:0009290 glycogen storage disease II MONDO MONDO:0002412,MONDO:0016118,MONDO:0016325,MONDO:0016326,MONDO:0016341,MONDO:0017738 subclass +MONDO:0009290 glycogen storage disease II MONDO MONDO:0002320,MONDO:0002412,MONDO:0016118,MONDO:0016325,MONDO:0016326,MONDO:0016341,MONDO:0017738 subclass MONDO:0009290 glycogen storage disease II MedDRA MedDRA:10053185 one_to_one MONDO:0009290 glycogen storage disease II NCIT NCIT:C84734 one_to_one MONDO:0009290 glycogen storage disease II OMIM OMIM:232300 one_to_one @@ -54857,7 +55016,7 @@ MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficien MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency GARD GARD:0002520 one_to_one MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency ICD10 ICD10:E74.0,ICD10:E74.09 inexact MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency ICD9 ICD9:277.6 inexact -MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO MONDO:0002412,MONDO:0015115,MONDO:0016118,MONDO:0016333 subclass +MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MONDO MONDO:0002320,MONDO:0002412,MONDO:0015115,MONDO:0016118,MONDO:0016333 subclass MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency MedDRA MedDRA:10053249 one_to_one MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency NCIT NCIT:C84737 one_to_one MONDO:0009292 glycogen storage disease due to glycogen branching enzyme deficiency OMIM OMIM:232500 one_to_one @@ -54869,7 +55028,7 @@ MONDO:0009293 glycogen storage disease V DOID DOID:2746 one_to_one MONDO:0009293 glycogen storage disease V GARD GARD:0006528 one_to_one MONDO:0009293 glycogen storage disease V ICD10 ICD10:E74.0,ICD10:E74.04 inexact MONDO:0009293 glycogen storage disease V MESH MESH:D006012 one_to_one -MONDO:0009293 glycogen storage disease V MONDO MONDO:0002412,MONDO:0016118 subclass +MONDO:0009293 glycogen storage disease V MONDO MONDO:0002320,MONDO:0002412,MONDO:0016118 subclass MONDO:0009293 glycogen storage disease V MedDRA MedDRA:10018462 one_to_one MONDO:0009293 glycogen storage disease V NCIT NCIT:C84738 one_to_one MONDO:0009293 glycogen storage disease V OMIM OMIM:232600 one_to_one @@ -54893,7 +55052,7 @@ MONDO:0009295 glycogen storage disease VII DOID DOID:11721 one_to_one MONDO:0009295 glycogen storage disease VII GARD GARD:0005686 one_to_one MONDO:0009295 glycogen storage disease VII ICD10 ICD10:E74.0,ICD10:E74.09 inexact MONDO:0009295 glycogen storage disease VII MESH MESH:D006014 one_to_one -MONDO:0009295 glycogen storage disease VII MONDO MONDO:0002412,MONDO:0003689,MONDO:0016118,MONDO:0017688,MONDO:0020106 subclass +MONDO:0009295 glycogen storage disease VII MONDO MONDO:0002320,MONDO:0002412,MONDO:0003689,MONDO:0016118,MONDO:0017688,MONDO:0020106 subclass MONDO:0009295 glycogen storage disease VII MedDRA MedDRA:10053241 one_to_one MONDO:0009295 glycogen storage disease VII NCIT NCIT:C118437 one_to_one MONDO:0009295 glycogen storage disease VII OMIM OMIM:232800 one_to_one @@ -55045,7 +55204,7 @@ MONDO:0009315 congenital factor XII deficiency UMLS UMLS:C0015526 one_to_one MONDO:0009315 congenital factor XII deficiency http http://identifiers.org/hgnc/3530 disease_has_basis_in_dysfunction_of MONDO:0009316 hair defect-photosensitivity-intellectual disability syndrome GARD GARD:0002582 one_to_one MONDO:0009316 hair defect-photosensitivity-intellectual disability syndrome MESH MESH:C537628 one_to_one -MONDO:0009316 hair defect-photosensitivity-intellectual disability syndrome MONDO MONDO:0015983,MONDO:0019282 subclass +MONDO:0009316 hair defect-photosensitivity-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0019282 subclass MONDO:0009316 hair defect-photosensitivity-intellectual disability syndrome OMIM OMIM:234030 one_to_one MONDO:0009316 hair defect-photosensitivity-intellectual disability syndrome Orphanet Orphanet:1408 one_to_one MONDO:0009317 nonphotosensitive trichothiodystrophy MONDO MONDO:0018053 subclass @@ -55064,7 +55223,7 @@ MONDO:0009319 pantothenate kinase-associated neurodegeneration GARD GARD:0006564 MONDO:0009319 pantothenate kinase-associated neurodegeneration ICD10 ICD10:G23.0 inexact MONDO:0009319 pantothenate kinase-associated neurodegeneration ICD9 ICD9:333.0 inexact MONDO:0009319 pantothenate kinase-associated neurodegeneration MESH MESH:D006211 one_to_one -MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO MONDO:0004589,MONDO:0004884,MONDO:0015905,MONDO:0016987,MONDO:0017760,MONDO:0018118,MONDO:0018307,MONDO:0020240,MONDO:0020281,MONDO:0024237 subclass +MONDO:0009319 pantothenate kinase-associated neurodegeneration MONDO MONDO:0004884,MONDO:0015905,MONDO:0016987,MONDO:0017760,MONDO:0018118,MONDO:0018307,MONDO:0020240,MONDO:0020281,MONDO:0024237 subclass MONDO:0009319 pantothenate kinase-associated neurodegeneration NCIT NCIT:C84988 one_to_one MONDO:0009319 pantothenate kinase-associated neurodegeneration OMIM OMIM:234200 one_to_one MONDO:0009319 pantothenate kinase-associated neurodegeneration Orphanet Orphanet:157850 one_to_one @@ -55074,7 +55233,7 @@ MONDO:0009319 pantothenate kinase-associated neurodegeneration http http://ident MONDO:0009320 hall-Riggs syndrome GARD GARD:0002586 one_to_one MONDO:0009320 hall-Riggs syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009320 hall-Riggs syndrome MESH MESH:C535623 one_to_one -MONDO:0009320 hall-Riggs syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0009320 hall-Riggs syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0009320 hall-Riggs syndrome OMIM OMIM:234250 one_to_one MONDO:0009320 hall-Riggs syndrome Orphanet Orphanet:2107 one_to_one MONDO:0009320 hall-Riggs syndrome SCTID SCTID:721008000 one_to_one @@ -55291,7 +55450,7 @@ MONDO:0009352 classic homocystinuria UMLS UMLS:C0751202 one_to_one MONDO:0009352 classic homocystinuria http http://identifiers.org/hgnc/1550 disease_has_basis_in_dysfunction_of MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency GARD GARD:0002734 one_to_one MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency ICD10 ICD10:E72.1 inexact -MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO MONDO:0004737,MONDO:0016133,MONDO:0017313 subclass +MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO MONDO:0002320,MONDO:0004737,MONDO:0016133,MONDO:0017313 subclass MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency OMIM OMIM:236250 one_to_one MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency Orphanet Orphanet:395 one_to_one MONDO:0009353 homocystinuria due to methylene tetrahydrofolate reductase deficiency SCTID SCTID:41797007 one_to_one @@ -55473,7 +55632,7 @@ MONDO:0009378 hyper-beta-alaninemia GARD GARD:0010267 one_to_one MONDO:0009378 hyper-beta-alaninemia ICD10 ICD10:E79.8 inexact MONDO:0009378 hyper-beta-alaninemia ICD9 ICD9:270.8 inexact MONDO:0009378 hyper-beta-alaninemia MESH MESH:C562684 one_to_one -MONDO:0009378 hyper-beta-alaninemia MONDO MONDO:0015955,MONDO:0016399,MONDO:0019238 subclass +MONDO:0009378 hyper-beta-alaninemia MONDO MONDO:0002320,MONDO:0015955,MONDO:0016399,MONDO:0019238 subclass MONDO:0009378 hyper-beta-alaninemia OMIM OMIM:237400 one_to_one MONDO:0009378 hyper-beta-alaninemia Orphanet Orphanet:309147 one_to_one MONDO:0009378 hyper-beta-alaninemia SCTID SCTID:2359002 one_to_one @@ -55650,7 +55809,7 @@ MONDO:0009404 hypertelorism, microtia, facial clefting syndrome DOID DOID:14670 MONDO:0009404 hypertelorism, microtia, facial clefting syndrome GARD GARD:0000897 one_to_one MONDO:0009404 hypertelorism, microtia, facial clefting syndrome ICD10 ICD10:Q87.0 inexact MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MESH MESH:C537632 one_to_one -MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO MONDO:0006025,MONDO:0015159,MONDO:0015334,MONDO:0015335,MONDO:0015958,MONDO:0015983,MONDO:0043005 subclass +MONDO:0009404 hypertelorism, microtia, facial clefting syndrome MONDO MONDO:0002320,MONDO:0006025,MONDO:0015159,MONDO:0015334,MONDO:0015335,MONDO:0015958,MONDO:0015983,MONDO:0043005 subclass MONDO:0009404 hypertelorism, microtia, facial clefting syndrome OMIM OMIM:239800 one_to_one MONDO:0009404 hypertelorism, microtia, facial clefting syndrome Orphanet Orphanet:2213 one_to_one MONDO:0009404 hypertelorism, microtia, facial clefting syndrome SCTID SCTID:721836009 one_to_one @@ -55688,7 +55847,7 @@ MONDO:0009410 Addison disease DOID DOID:13774 one_to_one MONDO:0009410 Addison disease GARD GARD:0005740 one_to_one MONDO:0009410 Addison disease ICD10 ICD10:E27.1 inexact MONDO:0009410 Addison disease ICD9 ICD9:255.41 inexact -MONDO:0009410 Addison disease MONDO MONDO:0015130,MONDO:0015971 subclass +MONDO:0009410 Addison disease MONDO MONDO:0000004,MONDO:0015130,MONDO:0015971 subclass MONDO:0009410 Addison disease MedDRA MedDRA:10001130 one_to_one MONDO:0009410 Addison disease NCIT NCIT:C113814 one_to_one MONDO:0009410 Addison disease OMIM OMIM:240200 one_to_one @@ -55724,10 +55883,11 @@ MONDO:0009413 immunodeficiency, common variable, 2 http http://identifiers.org/h MONDO:0009414 glycogen storage disease due to hepatic glycogen synthase deficiency GARD GARD:0002513,GARD:0002889 inexact MONDO:0009414 glycogen storage disease due to hepatic glycogen synthase deficiency ICD10 ICD10:E74.0 inexact MONDO:0009414 glycogen storage disease due to hepatic glycogen synthase deficiency MESH MESH:C565485 one_to_one -MONDO:0009414 glycogen storage disease due to hepatic glycogen synthase deficiency MONDO MONDO:0017693 subclass +MONDO:0009414 glycogen storage disease due to hepatic glycogen synthase deficiency MONDO MONDO:0005154,MONDO:0017693 subclass MONDO:0009414 glycogen storage disease due to hepatic glycogen synthase deficiency OMIM OMIM:240600 one_to_one MONDO:0009414 glycogen storage disease due to hepatic glycogen synthase deficiency Orphanet Orphanet:2089 one_to_one MONDO:0009414 glycogen storage disease due to hepatic glycogen synthase deficiency SCTID SCTID:237964009 one_to_one +MONDO:0009414 glycogen storage disease due to hepatic glycogen synthase deficiency UBERON UBERON:0002107 disease_has_location MONDO:0009414 glycogen storage disease due to hepatic glycogen synthase deficiency UMLS UMLS:C0342748,UMLS:C1855861 inexact MONDO:0009414 glycogen storage disease due to hepatic glycogen synthase deficiency http http://identifiers.org/hgnc/4707 disease_has_basis_in_dysfunction_of MONDO:0009415 hypoglycemia, leucine-induced EFO EFO:0006856 one_to_one @@ -55803,7 +55963,7 @@ MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome DOID DOID:0060 MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome GARD GARD:0000411 one_to_one MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome ICD10 ICD10:Q87.1 inexact MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MESH MESH:C537157 one_to_one -MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MONDO MONDO:0006025,MONDO:0015159,MONDO:0015895,MONDO:0015983,MONDO:0043005 subclass +MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome MONDO MONDO:0002320,MONDO:0006025,MONDO:0015159,MONDO:0015895,MONDO:0015983,MONDO:0043005 subclass MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome NCIT NCIT:C133727 one_to_one MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome OMIM OMIM:241410 one_to_one MONDO:0009426 hypoparathyroidism-retardation-dysmorphism syndrome Orphanet Orphanet:2323 one_to_one @@ -55864,7 +56024,7 @@ MONDO:0009434 hypoproteinemia, hypercatabolic http http://identifiers.org/hgnc/9 MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome GARD GARD:0002928 one_to_one MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome MESH MESH:C563067 one_to_one -MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome MONDO MONDO:0015159,MONDO:0015620,MONDO:0015983 subclass +MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015620,MONDO:0015983 subclass MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome OMIM OMIM:241760 one_to_one MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome Orphanet Orphanet:2261 one_to_one MONDO:0009435 hypospadias-intellectual disability, Goldblatt type syndrome SCTID SCTID:716096005 one_to_one @@ -55925,7 +56085,7 @@ MONDO:0009443 autosomal recessive congenital ichthyosis 4B SCTID SCTID:205548006 MONDO:0009443 autosomal recessive congenital ichthyosis 4B UMLS UMLS:C0239849 one_to_one MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome GARD GARD:0000292 one_to_one MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MESH MESH:C537364 one_to_one -MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MONDO MONDO:0015983,MONDO:0017272,MONDO:0019287 subclass +MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0017272,MONDO:0019287 subclass MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome OMIM OMIM:242510 one_to_one MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome Orphanet Orphanet:2269 one_to_one MONDO:0009444 ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome UMLS UMLS:C1855788 one_to_one @@ -56164,7 +56324,7 @@ MONDO:0009479 Johanson-Blizzard syndrome http http://identifiers.org/hgnc/16808 MONDO:0009480 Joubert syndrome with oculorenal defect GARD GARD:0009455 one_to_one MONDO:0009480 Joubert syndrome with oculorenal defect ICD10 ICD10:Q04.3 inexact MONDO:0009480 Joubert syndrome with oculorenal defect MESH MESH:C537430 one_to_one -MONDO:0009480 Joubert syndrome with oculorenal defect MONDO MONDO:0004589,MONDO:0015369,MONDO:0020240,MONDO:0020258 subclass +MONDO:0009480 Joubert syndrome with oculorenal defect MONDO MONDO:0015369,MONDO:0020240,MONDO:0020258 subclass MONDO:0009480 Joubert syndrome with oculorenal defect OMIM OMIM:243910 one_to_one MONDO:0009480 Joubert syndrome with oculorenal defect Orphanet Orphanet:2318 one_to_one MONDO:0009480 Joubert syndrome with oculorenal defect SCTID SCTID:721862000 one_to_one @@ -56182,7 +56342,7 @@ MONDO:0009482 hypogonadotropic hypogonadism 3 with or without anosmia http http: MONDO:0009483 kapur-Toriello syndrome GARD GARD:0003078 one_to_one MONDO:0009483 kapur-Toriello syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009483 kapur-Toriello syndrome MESH MESH:C537008 one_to_one -MONDO:0009483 kapur-Toriello syndrome MONDO MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass +MONDO:0009483 kapur-Toriello syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass MONDO:0009483 kapur-Toriello syndrome OMIM OMIM:244300 one_to_one MONDO:0009483 kapur-Toriello syndrome Orphanet Orphanet:2328 one_to_one MONDO:0009483 kapur-Toriello syndrome SCTID SCTID:722031003 one_to_one @@ -56270,7 +56430,7 @@ MONDO:0009494 Ketoadipicaciduria UMLS UMLS:C1855626 one_to_one MONDO:0009495 Keutel syndrome GARD GARD:0008449 one_to_one MONDO:0009495 Keutel syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009495 Keutel syndrome MESH MESH:C536167 one_to_one -MONDO:0009495 Keutel syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019066,MONDO:0019701,MONDO:0043005 subclass +MONDO:0009495 Keutel syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019066,MONDO:0019701,MONDO:0043005 subclass MONDO:0009495 Keutel syndrome OMIM OMIM:245150 one_to_one MONDO:0009495 Keutel syndrome Orphanet Orphanet:85202 one_to_one MONDO:0009495 Keutel syndrome UMLS UMLS:C1855607 one_to_one @@ -56297,7 +56457,7 @@ MONDO:0009499 Krabbe disease GARD GARD:0006844 one_to_one MONDO:0009499 Krabbe disease GO GO:0004336 disease_has_basis_in_disruption_of MONDO:0009499 Krabbe disease ICD10 ICD10:E75.2,ICD10:E75.23 inexact MONDO:0009499 Krabbe disease MESH MESH:D007965 one_to_one -MONDO:0009499 Krabbe disease MONDO MONDO:0004589,MONDO:0004884,MONDO:0016133,MONDO:0018299,MONDO:0019046,MONDO:0019058,MONDO:0020244,MONDO:0024237,MONDO:0044976 subclass +MONDO:0009499 Krabbe disease MONDO MONDO:0004884,MONDO:0016133,MONDO:0018299,MONDO:0019046,MONDO:0019058,MONDO:0020244,MONDO:0024237,MONDO:0044976 subclass MONDO:0009499 Krabbe disease MedDRA MedDRA:10023492 one_to_one MONDO:0009499 Krabbe disease NCIT NCIT:C61254 one_to_one MONDO:0009499 Krabbe disease OMIM OMIM:245200 one_to_one @@ -56399,7 +56559,7 @@ MONDO:0009513 laryngo-onycho-cutaneous syndrome GARD GARD:0000368 one_to_one MONDO:0009513 laryngo-onycho-cutaneous syndrome ICD10 ICD10:Q81.8 inexact MONDO:0009513 laryngo-onycho-cutaneous syndrome MESH MESH:C537032 one_to_one MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO MONDO:0015221 excluded_subClassOf -MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO MONDO:0015222,MONDO:0015510,MONDO:0015930,MONDO:0016997,MONDO:0017612 subclass +MONDO:0009513 laryngo-onycho-cutaneous syndrome MONDO MONDO:0002320,MONDO:0015222,MONDO:0015510,MONDO:0015930,MONDO:0016997,MONDO:0017612 subclass MONDO:0009513 laryngo-onycho-cutaneous syndrome OMIM OMIM:245660 one_to_one MONDO:0009513 laryngo-onycho-cutaneous syndrome Orphanet Orphanet:2407 one_to_one MONDO:0009513 laryngo-onycho-cutaneous syndrome SCTID SCTID:722675000 one_to_one @@ -56410,7 +56570,7 @@ MONDO:0009514 Laurence-Moon syndrome GARD GARD:0012635 one_to_one MONDO:0009514 Laurence-Moon syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009514 Laurence-Moon syndrome ICD9 ICD9:253.4 inexact MONDO:0009514 Laurence-Moon syndrome MESH MESH:D007849 one_to_one -MONDO:0009514 Laurence-Moon syndrome MONDO MONDO:0004589,MONDO:0006025,MONDO:0015159,MONDO:0015218,MONDO:0015890,MONDO:0015983,MONDO:0020240,MONDO:0020244,MONDO:0043005 subclass +MONDO:0009514 Laurence-Moon syndrome MONDO MONDO:0006025,MONDO:0015159,MONDO:0015218,MONDO:0015890,MONDO:0015983,MONDO:0020240,MONDO:0020244,MONDO:0043005 subclass MONDO:0009514 Laurence-Moon syndrome MedDRA MedDRA:10056710 one_to_one MONDO:0009514 Laurence-Moon syndrome NCIT NCIT:C34760 one_to_one MONDO:0009514 Laurence-Moon syndrome OMIM OMIM:245800 one_to_one @@ -56486,7 +56646,7 @@ MONDO:0009523 Lichtenstein syndrome Orphanet Orphanet:2390 one_to_one MONDO:0009523 Lichtenstein syndrome UMLS UMLS:C1855502 one_to_one MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome GARD GARD:0003523 one_to_one MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome MESH MESH:C537446 one_to_one -MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0017432,MONDO:0018455,MONDO:0043005 subclass +MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0017432,MONDO:0018455,MONDO:0043005 subclass MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome OMIM OMIM:246555 one_to_one MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome Orphanet Orphanet:1891 one_to_one MONDO:0009524 intellectual disability-spasticity-ectrodactyly syndrome UMLS UMLS:C0796001 one_to_one @@ -56606,7 +56766,7 @@ MONDO:0009542 lysine malabsorption syndrome UMLS UMLS:C0796023 one_to_one MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome GARD GARD:0000144 one_to_one MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome MESH MESH:C537714 one_to_one -MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome OMIM OMIM:247990 one_to_one MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome Orphanet Orphanet:2083 one_to_one MONDO:0009543 prominent glabella-microcephaly-hypogenitalism syndrome UMLS UMLS:C0796024 one_to_one @@ -56635,7 +56795,7 @@ MONDO:0009548 renal hypomagnesemia 5 with ocular involvement DOID DOID:0060881 o MONDO:0009548 renal hypomagnesemia 5 with ocular involvement GARD GARD:0003451 one_to_one MONDO:0009548 renal hypomagnesemia 5 with ocular involvement ICD10 ICD10:E83.4 inexact MONDO:0009548 renal hypomagnesemia 5 with ocular involvement MESH MESH:C536148 one_to_one -MONDO:0009548 renal hypomagnesemia 5 with ocular involvement MONDO MONDO:0004589,MONDO:0010645,MONDO:0017624,MONDO:0020243 subclass +MONDO:0009548 renal hypomagnesemia 5 with ocular involvement MONDO MONDO:0010645,MONDO:0017624,MONDO:0020243 subclass MONDO:0009548 renal hypomagnesemia 5 with ocular involvement OMIM OMIM:248190 one_to_one MONDO:0009548 renal hypomagnesemia 5 with ocular involvement Orphanet Orphanet:2196 one_to_one MONDO:0009548 renal hypomagnesemia 5 with ocular involvement http http://identifiers.org/hgnc/2040 disease_has_basis_in_dysfunction_of @@ -56719,7 +56879,7 @@ MONDO:0009561 alpha-mannosidosis GO GO:0004559 disease_has_basis_in_disruption_o MONDO:0009561 alpha-mannosidosis ICD10 ICD10:E77.1 inexact MONDO:0009561 alpha-mannosidosis ICD9 ICD9:271.8 inexact MONDO:0009561 alpha-mannosidosis MESH MESH:D008363 one_to_one -MONDO:0009561 alpha-mannosidosis MONDO MONDO:0015960,MONDO:0017133,MONDO:0019058,MONDO:0019251,MONDO:0019706,MONDO:0020228,MONDO:0020279,MONDO:0020280,MONDO:0044976 subclass +MONDO:0009561 alpha-mannosidosis MONDO MONDO:0002320,MONDO:0015960,MONDO:0017133,MONDO:0019058,MONDO:0019251,MONDO:0019706,MONDO:0020228,MONDO:0020279,MONDO:0020280,MONDO:0044976 subclass MONDO:0009561 alpha-mannosidosis NCIT NCIT:C84548 one_to_one MONDO:0009561 alpha-mannosidosis OMIM OMIM:248500 one_to_one MONDO:0009561 alpha-mannosidosis Orphanet Orphanet:61 one_to_one @@ -56731,7 +56891,7 @@ MONDO:0009562 beta-mannosidosis GARD GARD:0000869 one_to_one MONDO:0009562 beta-mannosidosis ICD10 ICD10:E77.1 inexact MONDO:0009562 beta-mannosidosis ICD9 ICD9:271.8 inexact MONDO:0009562 beta-mannosidosis MESH MESH:D044905 one_to_one -MONDO:0009562 beta-mannosidosis MONDO MONDO:0015960,MONDO:0016133,MONDO:0016326,MONDO:0019251,MONDO:0019706 subclass +MONDO:0009562 beta-mannosidosis MONDO MONDO:0002320,MONDO:0015960,MONDO:0016133,MONDO:0016326,MONDO:0019251,MONDO:0019706 subclass MONDO:0009562 beta-mannosidosis NCIT NCIT:C84596 one_to_one MONDO:0009562 beta-mannosidosis OMIM OMIM:248510 one_to_one MONDO:0009562 beta-mannosidosis Orphanet Orphanet:118 one_to_one @@ -56756,7 +56916,7 @@ MONDO:0009564 Marden-Walker syndrome GARD GARD:0006973 one_to_one MONDO:0009564 Marden-Walker syndrome ICD10 ICD10:Q87.0 inexact MONDO:0009564 Marden-Walker syndrome ICD9 ICD9:759.89 inexact MONDO:0009564 Marden-Walker syndrome MESH MESH:C535910 one_to_one -MONDO:0009564 Marden-Walker syndrome MONDO MONDO:0005308,MONDO:0015159,MONDO:0015168,MONDO:0015501,MONDO:0015958,MONDO:0015983,MONDO:0043005 subclass +MONDO:0009564 Marden-Walker syndrome MONDO MONDO:0002320,MONDO:0005308,MONDO:0015159,MONDO:0015168,MONDO:0015501,MONDO:0015958,MONDO:0015983,MONDO:0043005 subclass MONDO:0009564 Marden-Walker syndrome OMIM OMIM:248700 one_to_one MONDO:0009564 Marden-Walker syndrome Orphanet Orphanet:2461 one_to_one MONDO:0009564 Marden-Walker syndrome SCTID SCTID:449824004 one_to_one @@ -56764,14 +56924,14 @@ MONDO:0009564 Marden-Walker syndrome http http://identifiers.org/hgnc/26270 dise MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome GARD GARD:0003615 one_to_one MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome MESH MESH:C565411 one_to_one -MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome OMIM OMIM:248760 one_to_one MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome Orphanet Orphanet:2172 one_to_one MONDO:0009565 microcephaly-glomerulonephritis-marfanoid habitus syndrome UMLS UMLS:C1855348 one_to_one MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome GARD GARD:0003388 one_to_one MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome MESH MESH:C565410 one_to_one -MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome OMIM OMIM:248770 one_to_one MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome Orphanet Orphanet:2463 one_to_one MONDO:0009566 marfanoid habitus-autosomal recessive intellectual disability syndrome UMLS UMLS:C1855347 one_to_one @@ -56803,7 +56963,7 @@ MONDO:0009569 Hennekam-Beemer syndrome SCTID SCTID:722453009 one_to_one MONDO:0009570 McDonough syndrome GARD GARD:0003424 one_to_one MONDO:0009570 McDonough syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009570 McDonough syndrome MESH MESH:C538158 one_to_one -MONDO:0009570 McDonough syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0009570 McDonough syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0009570 McDonough syndrome OMIM OMIM:248950 one_to_one MONDO:0009570 McDonough syndrome Orphanet Orphanet:2471 one_to_one MONDO:0009570 McDonough syndrome SCTID SCTID:715441004 one_to_one @@ -56838,7 +56998,7 @@ MONDO:0009575 thiamine-responsive megaloblastic anemia syndrome http http://iden MONDO:0009576 megalocornea (disease) DOID DOID:0060305 one_to_one MONDO:0009576 megalocornea (disease) HP HP:0000485,HP:0007660 inexact MONDO:0009576 megalocornea (disease) MESH MESH:C562829 one_to_one -MONDO:0009576 megalocornea (disease) MONDO MONDO:0000942,MONDO:0003847,MONDO:0015107 subclass +MONDO:0009576 megalocornea (disease) MONDO MONDO:0000942,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0009576 megalocornea (disease) OMIM OMIM:249300 one_to_one MONDO:0009576 megalocornea (disease) SCTID SCTID:268158009 one_to_one MONDO:0009577 megalocornea-intellectual disability syndrome GARD GARD:0003448 one_to_one @@ -56851,7 +57011,7 @@ MONDO:0009577 megalocornea-intellectual disability syndrome UMLS UMLS:C0796086 o MONDO:0009578 neurocutaneous melanocytosis GARD GARD:0007186 one_to_one MONDO:0009578 neurocutaneous melanocytosis ICD10 ICD10:D22.3,ICD10:D22.4,ICD10:D22.5,ICD10:D22.6,ICD10:D22.7 inexact MONDO:0009578 neurocutaneous melanocytosis MESH MESH:C537387 one_to_one -MONDO:0009578 neurocutaneous melanocytosis MONDO MONDO:0000648,MONDO:0016756,MONDO:0017414,MONDO:0019117,MONDO:0020036,MONDO:0042983 subclass +MONDO:0009578 neurocutaneous melanocytosis MONDO MONDO:0000648,MONDO:0002320,MONDO:0016756,MONDO:0017414,MONDO:0019117,MONDO:0020036,MONDO:0042983 subclass MONDO:0009578 neurocutaneous melanocytosis OMIM OMIM:249400 one_to_one MONDO:0009578 neurocutaneous melanocytosis Orphanet Orphanet:2481 one_to_one MONDO:0009578 neurocutaneous melanocytosis http http://identifiers.org/hgnc/7989 disease_has_basis_in_dysfunction_of @@ -56872,7 +57032,7 @@ MONDO:0009580 intellectual disability, autosomal recessive 1 http http://identif MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome GARD GARD:0009811 one_to_one MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MESH MESH:C537447 one_to_one -MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome OMIM OMIM:249599 one_to_one MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome Orphanet Orphanet:3044 one_to_one MONDO:0009581 intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome SCTID SCTID:722454003 one_to_one @@ -56895,7 +57055,7 @@ MONDO:0009583 blepharophimosis-intellectual disability syndrome, Ohdo type UMLS MONDO:0009584 intellectual disability, Buenos-Aires type GARD GARD:0003485 one_to_one MONDO:0009584 intellectual disability, Buenos-Aires type ICD10 ICD10:Q87.8 inexact MONDO:0009584 intellectual disability, Buenos-Aires type MESH MESH:C563095 one_to_one -MONDO:0009584 intellectual disability, Buenos-Aires type MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0009584 intellectual disability, Buenos-Aires type MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0009584 intellectual disability, Buenos-Aires type OMIM OMIM:249630 one_to_one MONDO:0009584 intellectual disability, Buenos-Aires type Orphanet Orphanet:3079 one_to_one MONDO:0009584 intellectual disability, Buenos-Aires type UMLS UMLS:C0796080 one_to_one @@ -57144,7 +57304,7 @@ MONDO:0009619 microcephaly-micromelia syndrome http http://identifiers.org/hgnc/ MONDO:0009620 Say-Barber-Miller syndrome GARD GARD:0000239 one_to_one MONDO:0009620 Say-Barber-Miller syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009620 Say-Barber-Miller syndrome MESH MESH:C536618 one_to_one -MONDO:0009620 Say-Barber-Miller syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0018041 subclass +MONDO:0009620 Say-Barber-Miller syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0018041 subclass MONDO:0009620 Say-Barber-Miller syndrome OMIM OMIM:251240 one_to_one MONDO:0009620 Say-Barber-Miller syndrome Orphanet Orphanet:3132 one_to_one MONDO:0009620 Say-Barber-Miller syndrome SCTID SCTID:721903007 one_to_one @@ -57175,6 +57335,7 @@ MONDO:0009623 Nijmegen breakage syndrome UMLS UMLS:C0398791,UMLS:CN860323 inexac MONDO:0009623 Nijmegen breakage syndrome http http://identifiers.org/hgnc/7652 disease_has_basis_in_dysfunction_of MONDO:0009624 microcephaly and chorioretinopathy 1 DOID DOID:0080105 one_to_one MONDO:0009624 microcephaly and chorioretinopathy 1 ICD10 ICD10:Q87.8 inexact +MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO MONDO:0019118 disease_has_feature MONDO:0009624 microcephaly and chorioretinopathy 1 MONDO MONDO:0000181,MONDO:0002254,MONDO:0019118,MONDO:0020262 subclass MONDO:0009624 microcephaly and chorioretinopathy 1 NCIT NCIT:C129306 one_to_one MONDO:0009624 microcephaly and chorioretinopathy 1 OMIM OMIM:251270 one_to_one @@ -57188,7 +57349,7 @@ MONDO:0009625 microcephaly with spastic quadriplegia UMLS UMLS:C1855055 one_to_o MONDO:0009626 pseudo-TORCH syndrome DOID DOID:0050656 one_to_one MONDO:0009626 pseudo-TORCH syndrome GARD GARD:0000815,GARD:0012426 inexact MONDO:0009626 pseudo-TORCH syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0009626 pseudo-TORCH syndrome MONDO MONDO:0006025,MONDO:0019117 subclass +MONDO:0009626 pseudo-TORCH syndrome MONDO MONDO:0002320,MONDO:0006025,MONDO:0019117 subclass MONDO:0009626 pseudo-TORCH syndrome OMIM OMIM:251290 one_to_one MONDO:0009626 pseudo-TORCH syndrome OMIMPS OMIMPS:251290 one_to_one MONDO:0009626 pseudo-TORCH syndrome Orphanet Orphanet:1229 one_to_one @@ -57244,7 +57405,7 @@ MONDO:0009635 microvillus inclusion disease DOID DOID:0060775 one_to_one MONDO:0009635 microvillus inclusion disease GARD GARD:0007039 one_to_one MONDO:0009635 microvillus inclusion disease ICD10 ICD10:P78.3 inexact MONDO:0009635 microvillus inclusion disease ICD9 ICD9:579.8 inexact -MONDO:0009635 microvillus inclusion disease MONDO MONDO:0000824,MONDO:0015182,MONDO:0019126 subclass +MONDO:0009635 microvillus inclusion disease MONDO MONDO:0000249,MONDO:0015182,MONDO:0019126,MONDO:0045032 subclass MONDO:0009635 microvillus inclusion disease MedDRA MedDRA:10068494 one_to_one MONDO:0009635 microvillus inclusion disease OMIM OMIM:251850 one_to_one MONDO:0009635 microvillus inclusion disease Orphanet Orphanet:2290 one_to_one @@ -57261,7 +57422,7 @@ MONDO:0009637 mitochondrial myopathy DOID DOID:699 one_to_one MONDO:0009637 mitochondrial myopathy GARD GARD:0011956 one_to_one MONDO:0009637 mitochondrial myopathy ICD10 ICD10:G71.3 inexact MONDO:0009637 mitochondrial myopathy MESH MESH:D017240 one_to_one -MONDO:0009637 mitochondrial myopathy MONDO MONDO:0002921,MONDO:0004069,MONDO:0015960,MONDO:0016117 subclass +MONDO:0009637 mitochondrial myopathy MONDO MONDO:0002320,MONDO:0002921,MONDO:0004069,MONDO:0015960,MONDO:0016117 subclass MONDO:0009637 mitochondrial myopathy MedDRA MedDRA:10027710 one_to_one MONDO:0009637 mitochondrial myopathy NCIT NCIT:C101328 one_to_one MONDO:0009637 mitochondrial myopathy OMIM OMIM:251900 one_to_one @@ -57372,7 +57533,7 @@ MONDO:0009653 mucolipidosis type IV GARD GARD:0000094 one_to_one MONDO:0009653 mucolipidosis type IV GO GO:0005381 disease_has_basis_in_disruption_of MONDO:0009653 mucolipidosis type IV GTR GTR:AN1124590,GTR:AN1125032,GTR:AN1125033,GTR:AN1148743 inexact MONDO:0009653 mucolipidosis type IV ICD10 ICD10:E75.1 inexact -MONDO:0009653 mucolipidosis type IV MONDO MONDO:0004589,MONDO:0015960,MONDO:0016397,MONDO:0019248,MONDO:0020244,MONDO:0020279,MONDO:0044975 subclass +MONDO:0009653 mucolipidosis type IV MONDO MONDO:0015960,MONDO:0016397,MONDO:0019248,MONDO:0020244,MONDO:0020279,MONDO:0044975 subclass MONDO:0009653 mucolipidosis type IV NCIT NCIT:C84896 one_to_one MONDO:0009653 mucolipidosis type IV OMIM OMIM:252650 one_to_one MONDO:0009653 mucolipidosis type IV Orphanet Orphanet:578 one_to_one @@ -57618,7 +57779,7 @@ MONDO:0009679 arthrogryposis due to muscular dystrophy DOID DOID:0110631 one_to_ MONDO:0009679 arthrogryposis due to muscular dystrophy GARD GARD:0000779 one_to_one MONDO:0009679 arthrogryposis due to muscular dystrophy ICD10 ICD10:M62.8 one_to_one MONDO:0009679 arthrogryposis due to muscular dystrophy MESH MESH:C564985 one_to_one -MONDO:0009679 arthrogryposis due to muscular dystrophy MONDO MONDO:0015168,MONDO:0019950 subclass +MONDO:0009679 arthrogryposis due to muscular dystrophy MONDO MONDO:0002320,MONDO:0015168,MONDO:0019950 subclass MONDO:0009679 arthrogryposis due to muscular dystrophy OMIM OMIM:253900 one_to_one MONDO:0009679 arthrogryposis due to muscular dystrophy Orphanet Orphanet:1155 one_to_one MONDO:0009679 arthrogryposis due to muscular dystrophy UMLS UMLS:C1850865 one_to_one @@ -57845,7 +58006,7 @@ MONDO:0009705 carnitine palmitoyl transferase 1A deficiency http http://identifi MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency ICD10 ICD10:G71.3 inexact MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency ICD9 ICD9:259.8 inexact MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency MESH MESH:C564972 one_to_one -MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency MONDO MONDO:0015960,MONDO:0016804,MONDO:0020123 subclass +MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency MONDO MONDO:0002320,MONDO:0015960,MONDO:0016804,MONDO:0020123 subclass MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency OMIM OMIM:255125 one_to_one MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency Orphanet Orphanet:43115 one_to_one MONDO:0009706 hereditary myopathy with lactic acidosis due to ISCU deficiency SCTID SCTID:699268002 one_to_one @@ -57893,7 +58054,7 @@ MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia Orphan MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia UMLS UMLS:C1850674 one_to_one MONDO:0009712 congenital multicore myopathy with external ophthalmoplegia http http://identifiers.org/hgnc/10483 disease_has_basis_in_dysfunction_of MONDO:0009713 MYP18 MESH MESH:C567606 one_to_one -MONDO:0009713 MYP18 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0009713 MYP18 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0009713 MYP18 OMIM OMIM:255500 one_to_one MONDO:0009713 MYP18 UMLS UMLS:C2749509 one_to_one MONDO:0009714 myosclerosis ICD10 ICD10:G71.8 inexact @@ -57904,7 +58065,7 @@ MONDO:0009714 myosclerosis OMIM OMIM:255600 one_to_one MONDO:0009714 myosclerosis Orphanet Orphanet:289380 one_to_one MONDO:0009714 myosclerosis http http://identifiers.org/hgnc/2212 disease_has_basis_in_dysfunction_of MONDO:0009715 myotonia congenita, autosomal recessive HP HP:0000007 has_modifier -MONDO:0009715 myotonia congenita, autosomal recessive MONDO MONDO:0006025,MONDO:0009710 subclass +MONDO:0009715 myotonia congenita, autosomal recessive MONDO MONDO:0002320,MONDO:0006025,MONDO:0009710 subclass MONDO:0009715 myotonia congenita, autosomal recessive OMIM OMIM:255700 one_to_one MONDO:0009715 myotonia congenita, autosomal recessive UMLS UMLS:C0751360 one_to_one MONDO:0009715 myotonia congenita, autosomal recessive http http://identifiers.org/hgnc/2019 disease_has_basis_in_dysfunction_of @@ -57919,7 +58080,7 @@ MONDO:0009717 Schwartz-Jampel syndrome DOID DOID:0090005 one_to_one MONDO:0009717 Schwartz-Jampel syndrome GARD GARD:0000250 one_to_one MONDO:0009717 Schwartz-Jampel syndrome ICD10 ICD10:G71.1,ICD10:Q78.8 inexact MONDO:0009717 Schwartz-Jampel syndrome ICD9 ICD9:759.89 inexact -MONDO:0009717 Schwartz-Jampel syndrome MONDO MONDO:0006025,MONDO:0015960,MONDO:0016106,MONDO:0016121,MONDO:0016151,MONDO:0016761,MONDO:0019689,MONDO:0020208 subclass +MONDO:0009717 Schwartz-Jampel syndrome MONDO MONDO:0002320,MONDO:0006025,MONDO:0015960,MONDO:0016106,MONDO:0016121,MONDO:0016151,MONDO:0016761,MONDO:0019689,MONDO:0020208 subclass MONDO:0009717 Schwartz-Jampel syndrome NCIT NCIT:C35008 one_to_one MONDO:0009717 Schwartz-Jampel syndrome OMIM OMIM:255800 one_to_one MONDO:0009717 Schwartz-Jampel syndrome Orphanet Orphanet:800 one_to_one @@ -57963,7 +58124,7 @@ MONDO:0009722 Native American myopathy DOID DOID:0060346 one_to_one MONDO:0009722 Native American myopathy GARD GARD:0008432 one_to_one MONDO:0009722 Native American myopathy ICD10 ICD10:G71.2 inexact MONDO:0009722 Native American myopathy MESH MESH:C538343 one_to_one -MONDO:0009722 Native American myopathy MONDO MONDO:0015335,MONDO:0018753,MONDO:0019952 subclass +MONDO:0009722 Native American myopathy MONDO MONDO:0002320,MONDO:0015335,MONDO:0018753,MONDO:0019952 subclass MONDO:0009722 Native American myopathy OMIM OMIM:255995 one_to_one MONDO:0009722 Native American myopathy Orphanet Orphanet:168572 one_to_one MONDO:0009722 Native American myopathy UMLS UMLS:C1850625 one_to_one @@ -57998,7 +58159,7 @@ MONDO:0009727 atelosteogenesis type II GARD GARD:0008329 one_to_one MONDO:0009727 atelosteogenesis type II ICD10 ICD10:Q77.5 inexact MONDO:0009727 atelosteogenesis type II ICD9 ICD9:756.9 inexact MONDO:0009727 atelosteogenesis type II MESH MESH:C535395 one_to_one -MONDO:0009727 atelosteogenesis type II MONDO MONDO:0000389,MONDO:0015159,MONDO:0015322,MONDO:0015983,MONDO:0019688,MONDO:0019697,MONDO:0043005 subclass +MONDO:0009727 atelosteogenesis type II MONDO MONDO:0000389,MONDO:0002320,MONDO:0015159,MONDO:0015322,MONDO:0015983,MONDO:0019688,MONDO:0019697,MONDO:0043005 subclass MONDO:0009727 atelosteogenesis type II OMIM OMIM:256050 one_to_one MONDO:0009727 atelosteogenesis type II Orphanet Orphanet:56304 one_to_one MONDO:0009727 atelosteogenesis type II SCTID SCTID:254055004 one_to_one @@ -58057,7 +58218,7 @@ MONDO:0009735 Netherton syndrome DOID DOID:0050474 one_to_one MONDO:0009735 Netherton syndrome GARD GARD:0007182 one_to_one MONDO:0009735 Netherton syndrome ICD10 ICD10:Q80.8 inexact MONDO:0009735 Netherton syndrome MESH MESH:D056770 one_to_one -MONDO:0009735 Netherton syndrome MONDO MONDO:0017265,MONDO:0017271,MONDO:0018037,MONDO:0020189,MONDO:0020269 subclass +MONDO:0009735 Netherton syndrome MONDO MONDO:0002320,MONDO:0017265,MONDO:0017271,MONDO:0018037,MONDO:0020189,MONDO:0020269 subclass MONDO:0009735 Netherton syndrome MedDRA MedDRA:10062909 one_to_one MONDO:0009735 Netherton syndrome NCIT NCIT:C84922 one_to_one MONDO:0009735 Netherton syndrome OMIM OMIM:256500 one_to_one @@ -58074,7 +58235,7 @@ MONDO:0009737 galactosialidosis GARD GARD:0003953 one_to_one MONDO:0009737 galactosialidosis ICD10 ICD10:E77.1 inexact MONDO:0009737 galactosialidosis ICD9 ICD9:277.6 inexact MONDO:0009737 galactosialidosis MESH MESH:C536411 one_to_one -MONDO:0009737 galactosialidosis MONDO MONDO:0004589,MONDO:0015960,MONDO:0019058,MONDO:0019251,MONDO:0019706,MONDO:0020244,MONDO:0020279,MONDO:0020282 subclass +MONDO:0009737 galactosialidosis MONDO MONDO:0015960,MONDO:0019058,MONDO:0019251,MONDO:0019706,MONDO:0020244,MONDO:0020279,MONDO:0020282 subclass MONDO:0009737 galactosialidosis NCIT NCIT:C129928 one_to_one MONDO:0009737 galactosialidosis OMIM OMIM:256540 one_to_one MONDO:0009737 galactosialidosis Orphanet Orphanet:351 one_to_one @@ -58084,7 +58245,7 @@ MONDO:0009737 galactosialidosis http http://identifiers.org/hgnc/9251 disease_ha MONDO:0009738 sialidosis type 2 DOID DOID:3343 one_to_one MONDO:0009738 sialidosis type 2 GARD GARD:0007183 one_to_one MONDO:0009738 sialidosis type 2 ICD10 ICD10:E77.1 inexact -MONDO:0009738 sialidosis type 2 MONDO MONDO:0015159,MONDO:0015919,MONDO:0017734,MONDO:0019706,MONDO:0019743,MONDO:0020280,MONDO:0043005 subclass +MONDO:0009738 sialidosis type 2 MONDO MONDO:0002320,MONDO:0015159,MONDO:0015919,MONDO:0017734,MONDO:0019706,MONDO:0019743,MONDO:0020280,MONDO:0043005 subclass MONDO:0009738 sialidosis type 2 NCIT NCIT:C125596 one_to_one MONDO:0009738 sialidosis type 2 OMIM OMIM:256550 one_to_one MONDO:0009738 sialidosis type 2 Orphanet Orphanet:87876 one_to_one @@ -58102,7 +58263,7 @@ MONDO:0009739 infantile neuroaxonal dystrophy SCTID SCTID:52713000 one_to_one MONDO:0009740 neurofaciodigitorenal syndrome GARD GARD:0003964 one_to_one MONDO:0009740 neurofaciodigitorenal syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009740 neurofaciodigitorenal syndrome MESH MESH:C537388 one_to_one -MONDO:0009740 neurofaciodigitorenal syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019721 subclass +MONDO:0009740 neurofaciodigitorenal syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019721 subclass MONDO:0009740 neurofaciodigitorenal syndrome OMIM OMIM:256690 one_to_one MONDO:0009740 neurofaciodigitorenal syndrome Orphanet Orphanet:2673 one_to_one MONDO:0009740 neurofaciodigitorenal syndrome UMLS UMLS:C0796088 one_to_one @@ -58111,7 +58272,7 @@ MONDO:0009741 neuroblastoma, susceptibility to OMIM OMIM:256700 one_to_one MONDO:0009741 neuroblastoma, susceptibility to http http://identifiers.org/hgnc/16636,http://identifiers.org/hgnc/7849 disease_has_basis_in_dysfunction_of MONDO:0009742 neuroectodermal melanolysosomal disease ICD10 ICD10:L81.4 inexact MONDO:0009742 neuroectodermal melanolysosomal disease MESH MESH:C536203 one_to_one -MONDO:0009742 neuroectodermal melanolysosomal disease MONDO MONDO:0015331,MONDO:0015651,MONDO:0019043,MONDO:0019289,MONDO:0019716,MONDO:0020276 subclass +MONDO:0009742 neuroectodermal melanolysosomal disease MONDO MONDO:0002320,MONDO:0015331,MONDO:0015651,MONDO:0019043,MONDO:0019289,MONDO:0019716,MONDO:0020276 subclass MONDO:0009742 neuroectodermal melanolysosomal disease OMIM OMIM:256710 one_to_one MONDO:0009742 neuroectodermal melanolysosomal disease Orphanet Orphanet:33445 one_to_one MONDO:0009742 neuroectodermal melanolysosomal disease UMLS UMLS:C1860157 one_to_one @@ -58283,7 +58444,7 @@ MONDO:0009768 oculodentodigital dysplasia, autosomal recessive OMIM OMIM:257850 MONDO:0009768 oculodentodigital dysplasia, autosomal recessive UMLS UMLS:C2749477 one_to_one MONDO:0009769 oculo-palato-cerebral syndrome ICD10 ICD10:Q87.1 inexact MONDO:0009769 oculo-palato-cerebral syndrome MESH MESH:C564935 one_to_one -MONDO:0009769 oculo-palato-cerebral syndrome MONDO MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass +MONDO:0009769 oculo-palato-cerebral syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass MONDO:0009769 oculo-palato-cerebral syndrome OMIM OMIM:257910 one_to_one MONDO:0009769 oculo-palato-cerebral syndrome Orphanet Orphanet:2714 one_to_one MONDO:0009769 oculo-palato-cerebral syndrome SCTID SCTID:722055008 one_to_one @@ -58294,17 +58455,17 @@ MONDO:0009770 3MC syndrome 1 MONDO MONDO:0017398 subclass MONDO:0009770 3MC syndrome 1 OMIM OMIM:257920 one_to_one MONDO:0009770 3MC syndrome 1 UMLS UMLS:C0796059 one_to_one MONDO:0009770 3MC syndrome 1 http http://identifiers.org/hgnc/6901 disease_has_basis_in_dysfunction_of -MONDO:0009771 Oculotrichodysplasia MESH MESH:C564934 one_to_one -MONDO:0009771 Oculotrichodysplasia MONDO MONDO:0004589,MONDO:0019287,MONDO:0020240 subclass -MONDO:0009771 Oculotrichodysplasia OMIM OMIM:257960 one_to_one -MONDO:0009771 Oculotrichodysplasia Orphanet Orphanet:2718 one_to_one -MONDO:0009771 Oculotrichodysplasia SCTID SCTID:722062004 one_to_one -MONDO:0009771 Oculotrichodysplasia UMLS UMLS:C1850332 one_to_one -MONDO:0009772 Oculorenocerebellar syndrome GARD GARD:0004050 one_to_one -MONDO:0009772 Oculorenocerebellar syndrome MESH MESH:C537739 one_to_one -MONDO:0009772 Oculorenocerebellar syndrome MONDO MONDO:0003847 subclass -MONDO:0009772 Oculorenocerebellar syndrome OMIM OMIM:257970 one_to_one -MONDO:0009772 Oculorenocerebellar syndrome UMLS UMLS:C1850331 one_to_one +MONDO:0009771 oculotrichodysplasia MESH MESH:C564934 one_to_one +MONDO:0009771 oculotrichodysplasia MONDO MONDO:0019287,MONDO:0020240 subclass +MONDO:0009771 oculotrichodysplasia OMIM OMIM:257960 one_to_one +MONDO:0009771 oculotrichodysplasia Orphanet Orphanet:2718 one_to_one +MONDO:0009771 oculotrichodysplasia SCTID SCTID:722062004 one_to_one +MONDO:0009771 oculotrichodysplasia UMLS UMLS:C1850332 one_to_one +MONDO:0009772 oculorenocerebellar syndrome GARD GARD:0004050 one_to_one +MONDO:0009772 oculorenocerebellar syndrome MESH MESH:C537739 one_to_one +MONDO:0009772 oculorenocerebellar syndrome MONDO MONDO:0003847 subclass +MONDO:0009772 oculorenocerebellar syndrome OMIM OMIM:257970 one_to_one +MONDO:0009772 oculorenocerebellar syndrome UMLS UMLS:C1850331 one_to_one MONDO:0009773 odonto-onycho-dermal dysplasia GARD GARD:0004054 one_to_one MONDO:0009773 odonto-onycho-dermal dysplasia ICD10 ICD10:Q82.4 inexact MONDO:0009773 odonto-onycho-dermal dysplasia MESH MESH:C537742 one_to_one @@ -58328,7 +58489,8 @@ MONDO:0009774 cloacal exstrophy (disease) Orphanet Orphanet:93929 one_to_one MONDO:0009774 cloacal exstrophy (disease) SCTID SCTID:20815007 one_to_one MONDO:0009774 cloacal exstrophy (disease) UMLS UMLS:C1850321 one_to_one MONDO:0009775 Oguchi disease-1 DOID DOID:0110712 one_to_one -MONDO:0009775 Oguchi disease-1 MONDO MONDO:0004587,MONDO:0004589,MONDO:0019152 subclass +MONDO:0009775 Oguchi disease-1 MONDO MONDO:0004587 excluded_subClassOf +MONDO:0009775 Oguchi disease-1 MONDO MONDO:0019152 subclass MONDO:0009775 Oguchi disease-1 OMIM OMIM:258100 one_to_one MONDO:0009775 Oguchi disease-1 http http://identifiers.org/hgnc/10521 disease_has_basis_in_dysfunction_of MONDO:0009776 SPGF1 MESH MESH:C562902 one_to_one @@ -58339,15 +58501,15 @@ MONDO:0009776 SPGF1 UMLS UMLS:C0403810 one_to_one MONDO:0009777 Oliver syndrome GARD GARD:0004069 one_to_one MONDO:0009777 Oliver syndrome ICD10 ICD10:Q87.2 inexact MONDO:0009777 Oliver syndrome MESH MESH:C564931 one_to_one -MONDO:0009777 Oliver syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0017434,MONDO:0043005 subclass +MONDO:0009777 Oliver syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0017434,MONDO:0043005 subclass MONDO:0009777 Oliver syndrome OMIM OMIM:258200 one_to_one MONDO:0009777 Oliver syndrome Orphanet Orphanet:2920 one_to_one MONDO:0009777 Oliver syndrome SCTID SCTID:721017000 one_to_one MONDO:0009777 Oliver syndrome UMLS UMLS:C1850320 one_to_one -MONDO:0009778 olivopontocerebellar atrophy Ii, autosomal recessive MESH MESH:C564930 one_to_one -MONDO:0009778 olivopontocerebellar atrophy Ii, autosomal recessive MONDO MONDO:0003847 subclass -MONDO:0009778 olivopontocerebellar atrophy Ii, autosomal recessive OMIM OMIM:258300 one_to_one -MONDO:0009778 olivopontocerebellar atrophy Ii, autosomal recessive UMLS UMLS:C1850319 one_to_one +MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive MESH MESH:C564930 one_to_one +MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive MONDO MONDO:0003847 subclass +MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive OMIM OMIM:258300 one_to_one +MONDO:0009778 olivopontocerebellar atrophy II, autosomal recessive UMLS UMLS:C1850319 one_to_one MONDO:0009779 autosomal recessive omodysplasia GARD GARD:0004076 one_to_one MONDO:0009779 autosomal recessive omodysplasia HP HP:0000007 has_modifier MONDO:0009779 autosomal recessive omodysplasia ICD10 ICD10:Q78.8 inexact @@ -58359,7 +58521,7 @@ MONDO:0009779 autosomal recessive omodysplasia http http://identifiers.org/hgnc/ MONDO:0009780 lethal omphalocele-cleft palate syndrome GARD GARD:0004079 one_to_one MONDO:0009780 lethal omphalocele-cleft palate syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009780 lethal omphalocele-cleft palate syndrome MESH MESH:C537747 one_to_one -MONDO:0009780 lethal omphalocele-cleft palate syndrome MONDO MONDO:0015159,MONDO:0015216,MONDO:0015335,MONDO:0015983 subclass +MONDO:0009780 lethal omphalocele-cleft palate syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015216,MONDO:0015335,MONDO:0015983 subclass MONDO:0009780 lethal omphalocele-cleft palate syndrome OMIM OMIM:258320 one_to_one MONDO:0009780 lethal omphalocele-cleft palate syndrome Orphanet Orphanet:2736 one_to_one MONDO:0009780 lethal omphalocele-cleft palate syndrome SCTID SCTID:719408007 one_to_one @@ -58400,7 +58562,7 @@ MONDO:0009787 3-methylglutaconic aciduria type 3 DOID DOID:0110004 one_to_one MONDO:0009787 3-methylglutaconic aciduria type 3 GARD GARD:0005663 one_to_one MONDO:0009787 3-methylglutaconic aciduria type 3 ICD10 ICD10:E71.1 inexact MONDO:0009787 3-methylglutaconic aciduria type 3 MESH MESH:C535311 one_to_one -MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO MONDO:0017359,MONDO:0018609 subclass +MONDO:0009787 3-methylglutaconic aciduria type 3 MONDO MONDO:0002320,MONDO:0017359,MONDO:0018609 subclass MONDO:0009787 3-methylglutaconic aciduria type 3 OMIM OMIM:258501 one_to_one MONDO:0009787 3-methylglutaconic aciduria type 3 Orphanet Orphanet:67047 one_to_one MONDO:0009787 3-methylglutaconic aciduria type 3 SCTID SCTID:297232009 one_to_one @@ -58458,7 +58620,7 @@ MONDO:0009796 gyrate atrophy DOID DOID:1415 one_to_one MONDO:0009796 gyrate atrophy GARD GARD:0006556,GARD:0007272 inexact MONDO:0009796 gyrate atrophy ICD10 ICD10:E72.4 inexact MONDO:0009796 gyrate atrophy MESH MESH:C538071,MESH:D015799 inexact -MONDO:0009796 gyrate atrophy MONDO MONDO:0001898,MONDO:0004589,MONDO:0016133,MONDO:0016517,MONDO:0017356,MONDO:0020241,MONDO:0020280,MONDO:0020281 subclass +MONDO:0009796 gyrate atrophy MONDO MONDO:0001898,MONDO:0016133,MONDO:0016517,MONDO:0017356,MONDO:0020241,MONDO:0020280,MONDO:0020281 subclass MONDO:0009796 gyrate atrophy NCIT NCIT:C84744 one_to_one MONDO:0009796 gyrate atrophy OMIM OMIM:258870 one_to_one MONDO:0009796 gyrate atrophy Orphanet Orphanet:414 one_to_one @@ -58535,14 +58697,13 @@ MONDO:0009807 osteosarcoma (disease) DOID DOID:3347 one_to_one MONDO:0009807 osteosarcoma (disease) EFO EFO:0000637 one_to_one MONDO:0009807 osteosarcoma (disease) HP HP:0002669 one_to_one MONDO:0009807 osteosarcoma (disease) ICDO ICDO:9180/3 one_to_one -MONDO:0009807 osteosarcoma (disease) MONDO MONDO:0002129,MONDO:0005089 subclass +MONDO:0009807 osteosarcoma (disease) MONDO MONDO:0005089 subclass MONDO:0009807 osteosarcoma (disease) NCIT NCIT:C9145 one_to_one MONDO:0009807 osteosarcoma (disease) ONCOTREE ONCOTREE:OS one_to_one -MONDO:0009807 osteosarcoma (disease) UBERON UBERON:0008883 disease_has_location MONDO:0009808 osteoid osteoma (disease) HP HP:0030433 one_to_one MONDO:0009808 osteoid osteoma (disease) ICDO ICDO:9191/0 one_to_one MONDO:0009808 osteoid osteoma (disease) MESH MESH:D010017 one_to_one -MONDO:0009808 osteoid osteoma (disease) MONDO MONDO:0000631,MONDO:0015959 subclass +MONDO:0009808 osteoid osteoma (disease) MONDO MONDO:0000631,MONDO:0045052 subclass MONDO:0009808 osteoid osteoma (disease) NCIT NCIT:C3303,NCIT:C41457,NCIT:C53694,NCIT:C53696 has_finding MONDO:0009808 osteoid osteoma (disease) NCIT NCIT:C3297 one_to_one MONDO:0009808 osteoid osteoma (disease) OMIM OMIM:259550 one_to_one @@ -58580,7 +58741,7 @@ MONDO:0009813 chronic recurrent multifocal osteomyelitis (disease) SCTID SCTID:2 MONDO:0009813 chronic recurrent multifocal osteomyelitis (disease) UMLS UMLS:C0410422 one_to_one MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome GARD GARD:0000354 one_to_one MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome MESH MESH:C537706 one_to_one -MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome MONDO MONDO:0015960,MONDO:0015983,MONDO:0019704 subclass +MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome MONDO MONDO:0002320,MONDO:0015960,MONDO:0015983,MONDO:0019704 subclass MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome OMIM OMIM:259690 one_to_one MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome Orphanet Orphanet:2324 one_to_one MONDO:0009814 osteopenia-intellectual disability-sparse hair syndrome UMLS UMLS:C1850140 one_to_one @@ -58924,7 +59085,7 @@ MONDO:0009857 persistent Mullerian duct syndrome http http://identifiers.org/hgn MONDO:0009858 Pfeiffer-Palm-Teller syndrome GARD GARD:0004305 one_to_one MONDO:0009858 Pfeiffer-Palm-Teller syndrome ICD10 ICD10:Q87.1 inexact MONDO:0009858 Pfeiffer-Palm-Teller syndrome MESH MESH:C537889 one_to_one -MONDO:0009858 Pfeiffer-Palm-Teller syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0009858 Pfeiffer-Palm-Teller syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0009858 Pfeiffer-Palm-Teller syndrome OMIM OMIM:261560 one_to_one MONDO:0009858 Pfeiffer-Palm-Teller syndrome Orphanet Orphanet:2871 one_to_one MONDO:0009858 Pfeiffer-Palm-Teller syndrome UMLS UMLS:C1849929 one_to_one @@ -58978,7 +59139,7 @@ MONDO:0009864 phosphoenolpyruvate carboxykinase deficiency, mitochondrial http h MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency GARD GARD:0009964 one_to_one MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency ICD10 ICD10:E74.0 inexact MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MESH MESH:C536176 one_to_one -MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO MONDO:0002412,MONDO:0016118 subclass +MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency MONDO MONDO:0002320,MONDO:0002412,MONDO:0016118 subclass MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency NCIT NCIT:C131647 one_to_one MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency OMIM OMIM:261670 one_to_one MONDO:0009865 glycogen storage disease due to phosphoglycerate mutase deficiency Orphanet Orphanet:97234 one_to_one @@ -59000,7 +59161,7 @@ MONDO:0009867 lethal congenital glycogen storage disease of heart http http://id MONDO:0009868 glycogen storage disease IXb DOID DOID:0111041 one_to_one MONDO:0009868 glycogen storage disease IXb ICD10 ICD10:E74.0 inexact MONDO:0009868 glycogen storage disease IXb MESH MESH:C563008 one_to_one -MONDO:0009868 glycogen storage disease IXb MONDO MONDO:0000366,MONDO:0015115,MONDO:0016118,MONDO:0018251 subclass +MONDO:0009868 glycogen storage disease IXb MONDO MONDO:0000366,MONDO:0002320,MONDO:0002412,MONDO:0015115,MONDO:0016118,MONDO:0018251 subclass MONDO:0009868 glycogen storage disease IXb OMIM OMIM:261750 one_to_one MONDO:0009868 glycogen storage disease IXb Orphanet Orphanet:79240 one_to_one MONDO:0009868 glycogen storage disease IXb UMLS UMLS:C0543514 one_to_one @@ -59278,7 +59439,7 @@ MONDO:0009904 Gitelman syndrome http http://identifiers.org/hgnc/10912 disease_h MONDO:0009905 urban-Rogers-Meyer syndrome GARD GARD:0005426 one_to_one MONDO:0009905 urban-Rogers-Meyer syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009905 urban-Rogers-Meyer syndrome MESH MESH:C538276 one_to_one -MONDO:0009905 urban-Rogers-Meyer syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0009905 urban-Rogers-Meyer syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0009905 urban-Rogers-Meyer syndrome OMIM OMIM:264010 one_to_one MONDO:0009905 urban-Rogers-Meyer syndrome Orphanet Orphanet:3409 one_to_one MONDO:0009905 urban-Rogers-Meyer syndrome SCTID SCTID:716334004 one_to_one @@ -59308,7 +59469,7 @@ MONDO:0009910 Wiedemann-Rautenstrauch syndrome GARD GARD:0000330 one_to_one MONDO:0009910 Wiedemann-Rautenstrauch syndrome ICD10 ICD10:E34.8 inexact MONDO:0009910 Wiedemann-Rautenstrauch syndrome ICD9 ICD9:259.8 inexact MONDO:0009910 Wiedemann-Rautenstrauch syndrome MESH MESH:C536423 one_to_one -MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO MONDO:0015159,MONDO:0015327,MONDO:0015331,MONDO:0015333,MONDO:0015983,MONDO:0019303,MONDO:0020087,MONDO:0020162,MONDO:0043005 subclass +MONDO:0009910 Wiedemann-Rautenstrauch syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015327,MONDO:0015331,MONDO:0015333,MONDO:0015983,MONDO:0019303,MONDO:0020087,MONDO:0020162,MONDO:0043005 subclass MONDO:0009910 Wiedemann-Rautenstrauch syndrome NCIT NCIT:C121565 one_to_one MONDO:0009910 Wiedemann-Rautenstrauch syndrome OMIM OMIM:264090 one_to_one MONDO:0009910 Wiedemann-Rautenstrauch syndrome Orphanet Orphanet:3455 one_to_one @@ -59386,7 +59547,7 @@ MONDO:0009920 Acrootoocular syndrome UMLS UMLS:C1849661 one_to_one MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome GARD GARD:0000344 one_to_one MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome MESH MESH:C535829 one_to_one -MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome NCIT NCIT:C125418 one_to_one MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome OMIM OMIM:264480 one_to_one MONDO:0009921 holoprosencephaly-postaxial polydactyly syndrome Orphanet Orphanet:2166 one_to_one @@ -59421,7 +59582,7 @@ MONDO:0009925 inherited pseudoxanthoma elasticum ICD10 ICD10:Q82.8 inexact MONDO:0009925 inherited pseudoxanthoma elasticum ICD9 ICD9:757.39 inexact MONDO:0009925 inherited pseudoxanthoma elasticum MESH MESH:D011561 one_to_one MONDO:0009925 inherited pseudoxanthoma elasticum MONDO MONDO:0021152 has_modifier -MONDO:0009925 inherited pseudoxanthoma elasticum MONDO MONDO:0006025,MONDO:0015331,MONDO:0015332,MONDO:0015512,MONDO:0015953,MONDO:0016340,MONDO:0019110,MONDO:0019292,MONDO:0020272,MONDO:0024308,MONDO:0043218 subclass +MONDO:0009925 inherited pseudoxanthoma elasticum MONDO MONDO:0002320,MONDO:0006025,MONDO:0015331,MONDO:0015332,MONDO:0015512,MONDO:0015953,MONDO:0016340,MONDO:0019110,MONDO:0019292,MONDO:0020272,MONDO:0024308,MONDO:0043218 subclass MONDO:0009925 inherited pseudoxanthoma elasticum MedDRA MedDRA:10037150 one_to_one MONDO:0009925 inherited pseudoxanthoma elasticum NCIT NCIT:C85036 one_to_one MONDO:0009925 inherited pseudoxanthoma elasticum OMIM OMIM:264800 one_to_one @@ -59588,7 +59749,7 @@ MONDO:0009944 pyloric atresia SCTID SCTID:27729002 one_to_one MONDO:0009945 pyridoxine-dependent epilepsy GARD GARD:0009298 one_to_one MONDO:0009945 pyridoxine-dependent epilepsy ICD10 ICD10:G40.8 inexact MONDO:0009945 pyridoxine-dependent epilepsy MESH MESH:C536254 one_to_one -MONDO:0009945 pyridoxine-dependent epilepsy MONDO MONDO:0015955,MONDO:0016404,MONDO:0019058,MONDO:0019237,MONDO:0100033 subclass +MONDO:0009945 pyridoxine-dependent epilepsy MONDO MONDO:0002320,MONDO:0015955,MONDO:0016404,MONDO:0019058,MONDO:0019237,MONDO:0100033 subclass MONDO:0009945 pyridoxine-dependent epilepsy OMIM OMIM:266100 one_to_one MONDO:0009945 pyridoxine-dependent epilepsy Orphanet Orphanet:3006 one_to_one MONDO:0009945 pyridoxine-dependent epilepsy UMLS UMLS:C1849508,UMLS:CN203406 inexact @@ -59645,7 +59806,7 @@ MONDO:0009951 Radiculoneuropathy, fatal neonatal UMLS UMLS:C1849471 one_to_one MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome GARD GARD:0001810 one_to_one MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MESH MESH:C538217,MESH:C564856 inexact -MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MONDO MONDO:0001411,MONDO:0005287,MONDO:0015159,MONDO:0015983,MONDO:0017985,MONDO:0019715,MONDO:0043005 subclass +MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome MONDO MONDO:0001411,MONDO:0002320,MONDO:0005287,MONDO:0015159,MONDO:0015983,MONDO:0017985,MONDO:0019715,MONDO:0043005 subclass MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome OMIM OMIM:266255 one_to_one MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome Orphanet Orphanet:3270 one_to_one MONDO:0009952 radioulnar synostosis-developmental delay-hypotonia syndrome SCTID SCTID:721883006 one_to_one @@ -59723,7 +59884,7 @@ MONDO:0009962 Senior-Loken syndrome 1 http http://identifiers.org/hgnc/7905 dise MONDO:0009963 Ulbright-Hodes syndrome GARD GARD:0005394 one_to_one MONDO:0009963 Ulbright-Hodes syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009963 Ulbright-Hodes syndrome MESH MESH:C537754 one_to_one -MONDO:0009963 Ulbright-Hodes syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019721 subclass +MONDO:0009963 Ulbright-Hodes syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019721 subclass MONDO:0009963 Ulbright-Hodes syndrome OMIM OMIM:266910 one_to_one MONDO:0009963 Ulbright-Hodes syndrome Orphanet Orphanet:3404 one_to_one MONDO:0009963 Ulbright-Hodes syndrome SCTID SCTID:719840003 one_to_one @@ -59866,7 +60027,7 @@ MONDO:0009982 retinitis pigmentosa inversa with deafness UMLS UMLS:C1849405 one_ MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome GARD GARD:0004683 one_to_one MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome ICD10 ICD10:Q87.8 inexact MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MESH MESH:C564841 one_to_one -MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO MONDO:0004589,MONDO:0019589,MONDO:0020240 subclass +MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome MONDO MONDO:0019589,MONDO:0020240 subclass MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome OMIM OMIM:268020 one_to_one MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome Orphanet Orphanet:3085 one_to_one MONDO:0009983 retinitis pigmentosa-intellectual disability-deafness-hypogenitalism syndrome UMLS UMLS:C1849401 one_to_one @@ -59896,7 +60057,7 @@ MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy OMIM OMIM:2 MONDO:0009987 autosomal recessive pericentral pigmentary retinopathy UMLS UMLS:C1849398 one_to_one MONDO:0009988 retinoschisis of fovea GARD GARD:0009143 one_to_one MONDO:0009988 retinoschisis of fovea MESH MESH:C538369 one_to_one -MONDO:0009988 retinoschisis of fovea MONDO MONDO:0004579,MONDO:0004589 subclass +MONDO:0009988 retinoschisis of fovea MONDO MONDO:0004579,MONDO:0019118 subclass MONDO:0009988 retinoschisis of fovea OMIM OMIM:268080 one_to_one MONDO:0009988 retinoschisis of fovea UMLS UMLS:C1849397 one_to_one MONDO:0009989 enhanced S-cone syndrome DOID DOID:0090059 one_to_one @@ -59912,7 +60073,7 @@ MONDO:0009989 enhanced S-cone syndrome http http://identifiers.org/hgnc/7974 dis MONDO:0009990 Revesz syndrome DOID DOID:0070026 one_to_one MONDO:0009990 Revesz syndrome GARD GARD:0004695 one_to_one MONDO:0009990 Revesz syndrome MESH MESH:C538371 one_to_one -MONDO:0009990 Revesz syndrome MONDO MONDO:0004589,MONDO:0015780,MONDO:0021231 subclass +MONDO:0009990 Revesz syndrome MONDO MONDO:0015780,MONDO:0019118,MONDO:0021231,MONDO:0021581 subclass MONDO:0009990 Revesz syndrome OMIM OMIM:268130 one_to_one MONDO:0009990 Revesz syndrome Orphanet Orphanet:3088 one_to_one MONDO:0009990 Revesz syndrome UMLS UMLS:C1327916 one_to_one @@ -59968,7 +60129,7 @@ MONDO:0009997 Roberts syndrome DOID DOID:5325 one_to_one MONDO:0009997 Roberts syndrome GARD GARD:0007387 one_to_one MONDO:0009997 Roberts syndrome ICD10 ICD10:Q73.8 inexact MONDO:0009997 Roberts syndrome MESH MESH:C535687 one_to_one -MONDO:0009997 Roberts syndrome MONDO MONDO:0006025,MONDO:0015335,MONDO:0017133,MONDO:0017432,MONDO:0018455,MONDO:0020232 subclass +MONDO:0009997 Roberts syndrome MONDO MONDO:0002320,MONDO:0006025,MONDO:0015335,MONDO:0017133,MONDO:0017432,MONDO:0018455,MONDO:0020232 subclass MONDO:0009997 Roberts syndrome NCIT NCIT:C126326 one_to_one MONDO:0009997 Roberts syndrome OMIM OMIM:268300 one_to_one MONDO:0009997 Roberts syndrome Orphanet Orphanet:3103 one_to_one @@ -59998,7 +60159,7 @@ MONDO:0010000 rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal MONDO:0010001 ectodermal dysplasia-blindness syndrome GARD GARD:0000293 one_to_one MONDO:0010001 ectodermal dysplasia-blindness syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010001 ectodermal dysplasia-blindness syndrome MESH MESH:C535865 one_to_one -MONDO:0010001 ectodermal dysplasia-blindness syndrome MONDO MONDO:0019287,MONDO:0020277 subclass +MONDO:0010001 ectodermal dysplasia-blindness syndrome MONDO MONDO:0002320,MONDO:0019287,MONDO:0020277 subclass MONDO:0010001 ectodermal dysplasia-blindness syndrome OMIM OMIM:268320 one_to_one MONDO:0010001 ectodermal dysplasia-blindness syndrome Orphanet Orphanet:1806 one_to_one MONDO:0010001 ectodermal dysplasia-blindness syndrome UMLS UMLS:C1849332 one_to_one @@ -60007,7 +60168,7 @@ MONDO:0010002 Rothmund-Thomson syndrome GARD GARD:0004392 one_to_one MONDO:0010002 Rothmund-Thomson syndrome ICD10 ICD10:Q82.8 inexact MONDO:0010002 Rothmund-Thomson syndrome ICD9 ICD9:759.89 inexact MONDO:0010002 Rothmund-Thomson syndrome MESH MESH:D011038 one_to_one -MONDO:0010002 Rothmund-Thomson syndrome MONDO MONDO:0015333,MONDO:0015356,MONDO:0015951,MONDO:0015960,MONDO:0016382,MONDO:0017133,MONDO:0019304,MONDO:0020233,MONDO:0020277 subclass +MONDO:0010002 Rothmund-Thomson syndrome MONDO MONDO:0002320,MONDO:0015333,MONDO:0015356,MONDO:0015951,MONDO:0015960,MONDO:0016382,MONDO:0017133,MONDO:0019304,MONDO:0020233,MONDO:0020277 subclass MONDO:0010002 Rothmund-Thomson syndrome NCIT NCIT:C3335 one_to_one MONDO:0010002 Rothmund-Thomson syndrome OMIM OMIM:268400 one_to_one MONDO:0010002 Rothmund-Thomson syndrome Orphanet Orphanet:2909 one_to_one @@ -60053,7 +60214,7 @@ MONDO:0010006 Sandhoff disease UMLS UMLS:C0036161 one_to_one MONDO:0010006 Sandhoff disease http http://identifiers.org/hgnc/4879 disease_has_basis_in_dysfunction_of MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome GARD GARD:0003596 one_to_one MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome MONDO MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass +MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome OMIM OMIM:268850 one_to_one MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome Orphanet Orphanet:2511 one_to_one MONDO:0010007 microbrachycephaly-ptosis-cleft lip syndrome UMLS UMLS:C0796142 one_to_one @@ -60088,7 +60249,7 @@ MONDO:0010010 Schinzel-Giedion syndrome http http://identifiers.org/hgnc/15573 d MONDO:0010011 schizencephaly GARD GARD:0000166 one_to_one MONDO:0010011 schizencephaly ICD10 ICD10:Q04.6 inexact MONDO:0010011 schizencephaly ICD9 ICD9:742.4 inexact -MONDO:0010011 schizencephaly MONDO MONDO:0002320,MONDO:0015655,MONDO:0017103 subclass +MONDO:0010011 schizencephaly MONDO MONDO:0015655,MONDO:0017103 subclass MONDO:0010011 schizencephaly NCIT NCIT:C99056 one_to_one MONDO:0010011 schizencephaly OMIM OMIM:269160 one_to_one MONDO:0010011 schizencephaly Orphanet Orphanet:799 one_to_one @@ -60246,7 +60407,7 @@ MONDO:0010031 Sjogren-Larsson syndrome EFO EFO:0007031 one_to_one MONDO:0010031 Sjogren-Larsson syndrome GARD GARD:0007654 one_to_one MONDO:0010031 Sjogren-Larsson syndrome ICD10 ICD10:Q87.1 inexact MONDO:0010031 Sjogren-Larsson syndrome MESH MESH:D016111 one_to_one -MONDO:0010031 Sjogren-Larsson syndrome MONDO MONDO:0004589,MONDO:0015905,MONDO:0017265,MONDO:0017272,MONDO:0018118,MONDO:0019046,MONDO:0019058,MONDO:0020244,MONDO:0020269,MONDO:0020280,MONDO:0020281 subclass +MONDO:0010031 Sjogren-Larsson syndrome MONDO MONDO:0015905,MONDO:0017265,MONDO:0017272,MONDO:0018118,MONDO:0019046,MONDO:0019058,MONDO:0020244,MONDO:0020269,MONDO:0020280,MONDO:0020281 subclass MONDO:0010031 Sjogren-Larsson syndrome MedDRA MedDRA:10048676 one_to_one MONDO:0010031 Sjogren-Larsson syndrome NCIT NCIT:C85070 one_to_one MONDO:0010031 Sjogren-Larsson syndrome OMIM OMIM:270200 one_to_one @@ -60283,7 +60444,7 @@ MONDO:0010035 Smith-Lemli-Opitz syndrome UMLS UMLS:C0175694 one_to_one MONDO:0010035 Smith-Lemli-Opitz syndrome http http://identifiers.org/hgnc/2860 disease_has_basis_in_dysfunction_of MONDO:0010036 congenital secretory sodium diarrhea 3 DOID DOID:0060781 one_to_one MONDO:0010036 congenital secretory sodium diarrhea 3 ICD10 ICD10:P78.3 inexact -MONDO:0010036 congenital secretory sodium diarrhea 3 MONDO MONDO:0000249,MONDO:0015170 subclass +MONDO:0010036 congenital secretory sodium diarrhea 3 MONDO MONDO:0000249,MONDO:0015170,MONDO:0045032 subclass MONDO:0010036 congenital secretory sodium diarrhea 3 OMIM OMIM:270420 one_to_one MONDO:0010036 congenital secretory sodium diarrhea 3 http http://identifiers.org/hgnc/11247 disease_has_basis_in_dysfunction_of MONDO:0010037 sodium-potassium-ATPase activity of red cell MONDO MONDO:0003847 subclass @@ -60299,7 +60460,7 @@ MONDO:0010038 growth delay due to insulin-like growth factor I resistance http h MONDO:0010039 congenital heart defect-round face-developmental delay syndrome GARD GARD:0004905 one_to_one MONDO:0010039 congenital heart defect-round face-developmental delay syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010039 congenital heart defect-round face-developmental delay syndrome MESH MESH:C536680 one_to_one -MONDO:0010039 congenital heart defect-round face-developmental delay syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0010039 congenital heart defect-round face-developmental delay syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0010039 congenital heart defect-round face-developmental delay syndrome OMIM OMIM:270460 one_to_one MONDO:0010039 congenital heart defect-round face-developmental delay syndrome Orphanet Orphanet:1355 one_to_one MONDO:0010039 congenital heart defect-round face-developmental delay syndrome SCTID SCTID:715987000 one_to_one @@ -60344,7 +60505,7 @@ MONDO:0010044 hereditary spastic paraplegia 15 http http://identifiers.org/hgnc/ MONDO:0010045 paraplegia-brachydactyly-cone-shaped epiphysis syndrome GARD GARD:0002343 one_to_one MONDO:0010045 paraplegia-brachydactyly-cone-shaped epiphysis syndrome ICD10 ICD10:G82.1 inexact MONDO:0010045 paraplegia-brachydactyly-cone-shaped epiphysis syndrome MESH MESH:C537938 one_to_one -MONDO:0010045 paraplegia-brachydactyly-cone-shaped epiphysis syndrome MONDO MONDO:0019066,MONDO:0019117 subclass +MONDO:0010045 paraplegia-brachydactyly-cone-shaped epiphysis syndrome MONDO MONDO:0002320,MONDO:0019066,MONDO:0019117 subclass MONDO:0010045 paraplegia-brachydactyly-cone-shaped epiphysis syndrome OMIM OMIM:270710 one_to_one MONDO:0010045 paraplegia-brachydactyly-cone-shaped epiphysis syndrome Orphanet Orphanet:2823 one_to_one MONDO:0010045 paraplegia-brachydactyly-cone-shaped epiphysis syndrome UMLS UMLS:C0795942 one_to_one @@ -60491,7 +60652,7 @@ MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type SCTID SCTID:389 MONDO:0010068 spondyloepimetaphyseal dysplasia, sponastrime type UMLS UMLS:C1300260 one_to_one MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome MESH MESH:C564799 one_to_one -MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome MONDO MONDO:0015246,MONDO:0015620,MONDO:0015846,MONDO:0015980,MONDO:0015983,MONDO:0019711 subclass +MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome MONDO MONDO:0002320,MONDO:0015246,MONDO:0015620,MONDO:0015846,MONDO:0015980,MONDO:0015983,MONDO:0019711 subclass MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome OMIM OMIM:271520 one_to_one MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome Orphanet Orphanet:94095 one_to_one MONDO:0010069 spondylocostal dysostosis-anal and genitourinary malformations syndrome UMLS UMLS:C1849069 one_to_one @@ -60516,7 +60677,7 @@ MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive OMIM OMIM: MONDO:0010072 spondyloepiphyseal dysplasia tarda, autosomal recessive UMLS UMLS:C1849054 one_to_one MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type ICD10 ICD10:Q77.7 inexact MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type MESH MESH:C564796 one_to_one -MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type MONDO MONDO:0015960,MONDO:0015983,MONDO:0016761 subclass +MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type MONDO MONDO:0002320,MONDO:0015960,MONDO:0015983,MONDO:0016761 subclass MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type OMIM OMIM:271620 one_to_one MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type Orphanet Orphanet:163665 one_to_one MONDO:0010073 spondyloepiphyseal dysplasia tarda, Kohn type SCTID SCTID:719202006 one_to_one @@ -60658,7 +60819,7 @@ MONDO:0010091 Crisponi syndrome http http://identifiers.org/hgnc/2364 disease_ha MONDO:0010092 Filippi syndrome GARD GARD:0000062 one_to_one MONDO:0010092 Filippi syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010092 Filippi syndrome MESH MESH:C538152 one_to_one -MONDO:0010092 Filippi syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0017434,MONDO:0043005 subclass +MONDO:0010092 Filippi syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0017434,MONDO:0043005 subclass MONDO:0010092 Filippi syndrome OMIM OMIM:272440 one_to_one MONDO:0010092 Filippi syndrome Orphanet Orphanet:3255 one_to_one MONDO:0010092 Filippi syndrome SCTID SCTID:720954000 one_to_one @@ -60747,7 +60908,7 @@ MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome OM MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome Orphanet Orphanet:2972 one_to_one MONDO:0010104 non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome UMLS UMLS:C1848903 one_to_one MONDO:0010105 teratoma, pineal MESH MESH:C537401 one_to_one -MONDO:0010105 teratoma, pineal MONDO MONDO:0002718,MONDO:0015936,MONDO:0021232 subclass +MONDO:0010105 teratoma, pineal MONDO MONDO:0004015 subclass MONDO:0010105 teratoma, pineal OMIM OMIM:273120 one_to_one MONDO:0010105 teratoma, pineal UMLS UMLS:C1848902 one_to_one MONDO:0010106 testes, rudimentary MONDO MONDO:0003847 subclass @@ -60872,7 +61033,7 @@ MONDO:0010124 thumb, distal hyperextensibility of MONDO MONDO:0003847 subclass MONDO:0010124 thumb, distal hyperextensibility of OMIM OMIM:274200 one_to_one MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome MESH MESH:C564769 one_to_one -MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome OMIM OMIM:274205 one_to_one MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome Orphanet Orphanet:2489 one_to_one MONDO:0010125 upper limb defect-eye and ear abnormalities syndrome UMLS UMLS:C1848816 one_to_one @@ -60912,7 +61073,7 @@ MONDO:0010130 dihydropyrimidine dehydrogenase deficiency SCTID SCTID:77365006 on MONDO:0010130 dihydropyrimidine dehydrogenase deficiency UMLS UMLS:C1959620 one_to_one MONDO:0010130 dihydropyrimidine dehydrogenase deficiency http http://identifiers.org/hgnc/3012 disease_has_basis_in_dysfunction_of MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive GARD GARD:0000301 one_to_one -MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive MONDO MONDO:0009043,MONDO:0015778,MONDO:0019589 subclass +MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive MONDO MONDO:0009043,MONDO:0015327,MONDO:0019589 subclass MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive NCIT NCIT:C85191 one_to_one MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive OMIM OMIM:274300 one_to_one MONDO:0010131 thyroid hormone resistance, generalized, autosomal recessive http http://identifiers.org/hgnc/11799 disease_has_basis_in_dysfunction_of @@ -61123,7 +61284,7 @@ MONDO:0010158 T-substance anomaly MONDO MONDO:0003847 subclass MONDO:0010158 T-substance anomaly OMIM OMIM:276200 one_to_one MONDO:0010159 constitutional mismatch repair deficiency syndrome GARD GARD:0000420 one_to_one MONDO:0010159 constitutional mismatch repair deficiency syndrome MESH MESH:C536928 one_to_one -MONDO:0010159 constitutional mismatch repair deficiency syndrome MONDO MONDO:0015356,MONDO:0016756,MONDO:0018040,MONDO:0019117 subclass +MONDO:0010159 constitutional mismatch repair deficiency syndrome MONDO MONDO:0002320,MONDO:0015356,MONDO:0016756,MONDO:0018040,MONDO:0019117 subclass MONDO:0010159 constitutional mismatch repair deficiency syndrome NCIT NCIT:C130202 one_to_one MONDO:0010159 constitutional mismatch repair deficiency syndrome OMIM OMIM:276300 one_to_one MONDO:0010159 constitutional mismatch repair deficiency syndrome Orphanet Orphanet:252202 one_to_one @@ -61134,7 +61295,7 @@ MONDO:0010160 tyrosinemia type II DOID DOID:0050725 one_to_one MONDO:0010160 tyrosinemia type II GARD GARD:0003105 one_to_one MONDO:0010160 tyrosinemia type II HP HP:0000491,HP:0000972,HP:0001249,HP:0003231 disease_has_feature MONDO:0010160 tyrosinemia type II ICD10 ICD10:E70.2 inexact -MONDO:0010160 tyrosinemia type II MONDO MONDO:0004741,MONDO:0020097,MONDO:0020269,MONDO:0020279 subclass +MONDO:0010160 tyrosinemia type II MONDO MONDO:0002320,MONDO:0004741,MONDO:0020097,MONDO:0020269,MONDO:0020279 subclass MONDO:0010160 tyrosinemia type II MedDRA MedDRA:10069463 one_to_one MONDO:0010160 tyrosinemia type II NCIT NCIT:C129032 one_to_one MONDO:0010160 tyrosinemia type II OMIM OMIM:276600 one_to_one @@ -61145,7 +61306,7 @@ MONDO:0010161 tyrosinemia type I DOID DOID:0050726 one_to_one MONDO:0010161 tyrosinemia type I GARD GARD:0002658 one_to_one MONDO:0010161 tyrosinemia type I HP HP:0003231 disease_has_feature MONDO:0010161 tyrosinemia type I ICD10 ICD10:E70.2 inexact -MONDO:0010161 tyrosinemia type I MONDO MONDO:0004741,MONDO:0015115,MONDO:0015945,MONDO:0016133,MONDO:0019743 subclass +MONDO:0010161 tyrosinemia type I MONDO MONDO:0002320,MONDO:0004741,MONDO:0015115,MONDO:0015945,MONDO:0016133,MONDO:0019743 subclass MONDO:0010161 tyrosinemia type I MedDRA MedDRA:10069462 one_to_one MONDO:0010161 tyrosinemia type I NCIT NCIT:C98641 one_to_one MONDO:0010161 tyrosinemia type I OMIM OMIM:276700 one_to_one @@ -61314,7 +61475,7 @@ MONDO:0010183 methylmalonic aciduria and homocystinuria type cblF http http://id MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC DOID DOID:0050715 one_to_one MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC GARD GARD:0012128 one_to_one MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC ICD10 ICD10:E72.1 inexact -MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO MONDO:0016133,MONDO:0016826,MONDO:0020281 subclass +MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC MONDO MONDO:0002320,MONDO:0016133,MONDO:0016826,MONDO:0020281 subclass MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC NCIT NCIT:C142174 one_to_one MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC OMIM OMIM:277400 one_to_one MONDO:0010184 methylmalonic aciduria and homocystinuria type cblC Orphanet Orphanet:79282 one_to_one @@ -61384,7 +61545,7 @@ MONDO:0010193 Weaver syndrome GTR GTR:AN0102079,GTR:AN0102080 inexact MONDO:0010193 Weaver syndrome ICD10 ICD10:Q87.3 inexact MONDO:0010193 Weaver syndrome ICD9 ICD9:759.89 inexact MONDO:0010193 Weaver syndrome MESH MESH:C536687 one_to_one -MONDO:0010193 Weaver syndrome MONDO MONDO:0000839,MONDO:0015159,MONDO:0015983,MONDO:0019716 subclass +MONDO:0010193 Weaver syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019716 subclass MONDO:0010193 Weaver syndrome NCIT NCIT:C125599 one_to_one MONDO:0010193 Weaver syndrome OMIM OMIM:277590 one_to_one MONDO:0010193 Weaver syndrome Orphanet Orphanet:3447 one_to_one @@ -61408,7 +61569,7 @@ MONDO:0010196 Werner syndrome GARD GARD:0007885 one_to_one MONDO:0010196 Werner syndrome ICD10 ICD10:E34.8 inexact MONDO:0010196 Werner syndrome ICD9 ICD9:259.8 inexact MONDO:0010196 Werner syndrome MESH MESH:D014898 one_to_one -MONDO:0010196 Werner syndrome MONDO MONDO:0006025,MONDO:0015331,MONDO:0015333,MONDO:0015945,MONDO:0016382,MONDO:0019303,MONDO:0020277 subclass +MONDO:0010196 Werner syndrome MONDO MONDO:0002320,MONDO:0006025,MONDO:0015331,MONDO:0015333,MONDO:0015945,MONDO:0016382,MONDO:0019303,MONDO:0020277 subclass MONDO:0010196 Werner syndrome MedDRA MedDRA:10049429 one_to_one MONDO:0010196 Werner syndrome NCIT NCIT:C3447 one_to_one MONDO:0010196 Werner syndrome OMIM OMIM:277700 one_to_one @@ -61457,7 +61618,7 @@ MONDO:0010201 Winchester syndrome SCTID SCTID:254151006 one_to_one MONDO:0010201 Winchester syndrome http http://identifiers.org/hgnc/7160 disease_has_basis_in_dysfunction_of MONDO:0010203 intellectual disability, Wolff type ICD10 ICD10:Q87.0 inexact MONDO:0010203 intellectual disability, Wolff type MESH MESH:C537448 one_to_one -MONDO:0010203 intellectual disability, Wolff type MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0010203 intellectual disability, Wolff type MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0010203 intellectual disability, Wolff type OMIM OMIM:277990 one_to_one MONDO:0010203 intellectual disability, Wolff type Orphanet Orphanet:3080 one_to_one MONDO:0010203 intellectual disability, Wolff type UMLS UMLS:C1848439 one_to_one @@ -61741,7 +61902,7 @@ MONDO:0010246 early infantile epileptic encephalopathy 9 UMLS UMLS:C1848137 one_ MONDO:0010246 early infantile epileptic encephalopathy 9 http http://identifiers.org/hgnc/14270 disease_has_basis_in_dysfunction_of MONDO:0010247 X-linked cerebral adrenoleukodystrophy GARD GARD:0009412 one_to_one MONDO:0010247 X-linked cerebral adrenoleukodystrophy ICD10 ICD10:E71.3 inexact -MONDO:0010247 X-linked cerebral adrenoleukodystrophy MONDO MONDO:0015905,MONDO:0015920,MONDO:0018544 subclass +MONDO:0010247 X-linked cerebral adrenoleukodystrophy MONDO MONDO:0015920,MONDO:0018544 subclass MONDO:0010247 X-linked cerebral adrenoleukodystrophy OMIM OMIM:300100 one_to_one MONDO:0010247 X-linked cerebral adrenoleukodystrophy Orphanet Orphanet:139396 one_to_one MONDO:0010247 X-linked cerebral adrenoleukodystrophy UMLS UMLS:CN036464,UMLS:CN199389 inexact @@ -61817,7 +61978,7 @@ MONDO:0010263 Alport syndrome-intellectual disability-midface hypoplasia-ellipto MONDO:0010264 X-linked adrenal hypoplasia congenita DOID DOID:0080156 one_to_one MONDO:0010264 X-linked adrenal hypoplasia congenita GARD GARD:0000555 one_to_one MONDO:0010264 X-linked adrenal hypoplasia congenita ICD10 ICD10:E27.1 inexact -MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO MONDO:0015129,MONDO:0015891,MONDO:0015971,MONDO:0016241 subclass +MONDO:0010264 X-linked adrenal hypoplasia congenita MONDO MONDO:0000004,MONDO:0002320,MONDO:0015129,MONDO:0015891,MONDO:0015971,MONDO:0016241 subclass MONDO:0010264 X-linked adrenal hypoplasia congenita NCIT NCIT:C123725 one_to_one MONDO:0010264 X-linked adrenal hypoplasia congenita OMIM OMIM:300200 one_to_one MONDO:0010264 X-linked adrenal hypoplasia congenita Orphanet Orphanet:95702 one_to_one @@ -61937,7 +62098,8 @@ MONDO:0010281 Danon disease GARD GARD:0009730 one_to_one MONDO:0010281 Danon disease ICD10 ICD10:E74.0 inexact MONDO:0010281 Danon disease ICD9 ICD9:759.89 inexact MONDO:0010281 Danon disease MESH MESH:D052120 one_to_one -MONDO:0010281 Danon disease MONDO MONDO:0009290,MONDO:0015920 subclass +MONDO:0010281 Danon disease MONDO MONDO:0009290 excluded_subClassOf +MONDO:0010281 Danon disease MONDO MONDO:0002412,MONDO:0015920,MONDO:0016118,MONDO:0016325,MONDO:0016326,MONDO:0017738 subclass MONDO:0010281 Danon disease NCIT NCIT:C84735 one_to_one MONDO:0010281 Danon disease OMIM OMIM:300257 one_to_one MONDO:0010281 Danon disease Orphanet Orphanet:34587 one_to_one @@ -62078,7 +62240,7 @@ MONDO:0010301 THCYTX OMIM OMIM:300331 one_to_one MONDO:0010301 THCYTX UMLS UMLS:C1845888 one_to_one MONDO:0010302 Ito hypomelanosis GARD GARD:0002992 one_to_one MONDO:0010302 Ito hypomelanosis ICD10 ICD10:Q87.8 inexact -MONDO:0010302 Ito hypomelanosis MONDO MONDO:0015651,MONDO:0019287,MONDO:0019290,MONDO:0020276 subclass +MONDO:0010302 Ito hypomelanosis MONDO MONDO:0002320,MONDO:0015651,MONDO:0019287,MONDO:0019290,MONDO:0020276 subclass MONDO:0010302 Ito hypomelanosis OMIM OMIM:300337 one_to_one MONDO:0010302 Ito hypomelanosis Orphanet Orphanet:435 one_to_one MONDO:0010303 colobomatous microphthalmia GARD GARD:0003644 one_to_one @@ -62312,7 +62474,7 @@ MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrom MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome Orphanet Orphanet:85294 one_to_one MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome UMLS UMLS:C1845343 one_to_one MONDO:0010339 X-linked epilepsy-learning disabilities-behavior disorders syndrome http http://identifiers.org/hgnc/11494 disease_has_basis_in_dysfunction_of -MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 MONDO MONDO:0003847,MONDO:0005259,MONDO:0015680 subclass +MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005259,MONDO:0015680 subclass MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 OMIM OMIM:300494 one_to_one MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 UMLS UMLS:C1845341 one_to_one MONDO:0010340 Asperger syndrome, X-linked, susceptibility to, 1 http http://identifiers.org/hgnc/14289 disease_has_basis_in_dysfunction_of @@ -62323,7 +62485,7 @@ MONDO:0010341 autism, susceptibility to, X-linked 2 http http://identifiers.org/ MONDO:0010342 autism, susceptibility to, X-linked 3 MONDO MONDO:0005260 subclass MONDO:0010342 autism, susceptibility to, X-linked 3 OMIM OMIM:300496 one_to_one MONDO:0010342 autism, susceptibility to, X-linked 3 http http://identifiers.org/hgnc/6990 disease_has_basis_in_dysfunction_of -MONDO:0010343 Asperger syndrome, X-linked, susceptibility to, 2 MONDO MONDO:0003847,MONDO:0005259,MONDO:0015680 subclass +MONDO:0010343 Asperger syndrome, X-linked, susceptibility to, 2 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005259,MONDO:0015680 subclass MONDO:0010343 Asperger syndrome, X-linked, susceptibility to, 2 OMIM OMIM:300497 one_to_one MONDO:0010343 Asperger syndrome, X-linked, susceptibility to, 2 http http://identifiers.org/hgnc/14287 disease_has_basis_in_dysfunction_of MONDO:0010344 intellectual disability, X-linked 45 MESH MESH:C564503 one_to_one @@ -62340,7 +62502,7 @@ MONDO:0010347 MRX84 MESH MESH:C564501 one_to_one MONDO:0010347 MRX84 MONDO MONDO:0019181 subclass MONDO:0010347 MRX84 OMIM OMIM:300505 one_to_one MONDO:0010347 MRX84 UMLS UMLS:C1845297 one_to_one -MONDO:0010348 DYX9 MONDO MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass +MONDO:0010348 DYX9 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass MONDO:0010348 DYX9 OMIM OMIM:300509 one_to_one MONDO:0010349 ovarian dysgenesis 2 MESH MESH:C564499 one_to_one MONDO:0010349 ovarian dysgenesis 2 MONDO MONDO:0005387,MONDO:0009299 subclass @@ -62423,7 +62585,7 @@ MONDO:0010362 glycogen storage disease IXd DOID DOID:0111040 one_to_one MONDO:0010362 glycogen storage disease IXd GARD GARD:0003858 one_to_one MONDO:0010362 glycogen storage disease IXd ICD10 ICD10:E74.0 inexact MONDO:0010362 glycogen storage disease IXd MESH MESH:C564485 one_to_one -MONDO:0010362 glycogen storage disease IXd MONDO MONDO:0000366,MONDO:0016118,MONDO:0018251 subclass +MONDO:0010362 glycogen storage disease IXd MONDO MONDO:0000366,MONDO:0002320,MONDO:0002412,MONDO:0016118,MONDO:0018251 subclass MONDO:0010362 glycogen storage disease IXd OMIM OMIM:300559 one_to_one MONDO:0010362 glycogen storage disease IXd Orphanet Orphanet:715 one_to_one MONDO:0010362 glycogen storage disease IXd http http://identifiers.org/hgnc/8925 disease_has_basis_in_dysfunction_of @@ -62511,7 +62673,7 @@ MONDO:0010376 Brooks-Wisniewski-brown syndrome OMIM OMIM:300612 one_to_one MONDO:0010376 Brooks-Wisniewski-brown syndrome Orphanet Orphanet:3056 one_to_one MONDO:0010376 Brooks-Wisniewski-brown syndrome UMLS UMLS:C0796272 one_to_one MONDO:0010377 MYP13 MESH MESH:C564473 one_to_one -MONDO:0010377 MYP13 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0010377 MYP13 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0010377 MYP13 OMIM OMIM:300613 one_to_one MONDO:0010377 MYP13 UMLS UMLS:C1845096 one_to_one MONDO:0010378 X-linked hereditary sensory and autonomic neuropathy with deafness GARD GARD:0012731 one_to_one @@ -62903,7 +63065,7 @@ MONDO:0010436 chromosome Xq28 duplication syndrome OMIM OMIM:300815 one_to_one MONDO:0010436 chromosome Xq28 duplication syndrome UMLS UMLS:C2749007 one_to_one MONDO:0010436 chromosome Xq28 duplication syndrome http http://identifiers.org/hgnc/16499,http://identifiers.org/hgnc/2063 disease_has_basis_in_dysfunction_of MONDO:0010437 severe X-linked mitochondrial encephalomyopathy ICD10 ICD10:G31.8 inexact -MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO MONDO:0000732,MONDO:0015960,MONDO:0018157,MONDO:0019058 subclass +MONDO:0010437 severe X-linked mitochondrial encephalomyopathy MONDO MONDO:0000732,MONDO:0002320,MONDO:0015960,MONDO:0018157,MONDO:0019058 subclass MONDO:0010437 severe X-linked mitochondrial encephalomyopathy OMIM OMIM:300816 one_to_one MONDO:0010437 severe X-linked mitochondrial encephalomyopathy Orphanet Orphanet:238329 one_to_one MONDO:0010437 severe X-linked mitochondrial encephalomyopathy SCTID SCTID:722212004 one_to_one @@ -62918,7 +63080,7 @@ MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification MONDO MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification OMIM OMIM:300829 one_to_one MONDO:0010439 cardiomyopathy, fatal fetal, due to myocardial calcification UMLS UMLS:C1853577 one_to_one MONDO:0010440 autism, susceptibility to, X-linked 4 GARD GARD:0003775 one_to_one -MONDO:0010440 autism, susceptibility to, X-linked 4 MONDO MONDO:0000761,MONDO:0005260,MONDO:0015680 subclass +MONDO:0010440 autism, susceptibility to, X-linked 4 MONDO MONDO:0000761,MONDO:0002320,MONDO:0005260,MONDO:0015680 subclass MONDO:0010440 autism, susceptibility to, X-linked 4 OMIM OMIM:300830 one_to_one MONDO:0010440 autism, susceptibility to, X-linked 4 http http://identifiers.org/hgnc/26392,http://identifiers.org/hgnc/29007 disease_has_basis_in_dysfunction_of MONDO:0010441 CK syndrome MONDO MONDO:0015960,MONDO:0015983,MONDO:0017120 subclass @@ -63210,7 +63372,7 @@ MONDO:0010497 intellectual disability, X-linked 102 OMIM OMIM:300958 one_to_one MONDO:0010497 intellectual disability, X-linked 102 UMLS UMLS:C4085582 one_to_one MONDO:0010497 intellectual disability, X-linked 102 http http://identifiers.org/hgnc/2745 disease_has_basis_in_dysfunction_of MONDO:0010498 MEND syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0010498 MEND syndrome MONDO MONDO:0015905,MONDO:0015960,MONDO:0015983,MONDO:0019240 subclass +MONDO:0010498 MEND syndrome MONDO MONDO:0002320,MONDO:0015905,MONDO:0015960,MONDO:0015983,MONDO:0019240 subclass MONDO:0010498 MEND syndrome OMIM OMIM:300960 one_to_one MONDO:0010498 MEND syndrome Orphanet Orphanet:401973 one_to_one MONDO:0010498 MEND syndrome UMLS UMLS:C4085243 one_to_one @@ -63245,7 +63407,7 @@ MONDO:0010504 immunodeficiency 47; IMD47 http http://identifiers.org/hgnc/868 di MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome GARD GARD:0000257 one_to_one MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome MESH MESH:C536638 one_to_one -MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019695 subclass +MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019695 subclass MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome OMIM OMIM:181515,OMIM:300977 inexact MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome Orphanet Orphanet:3041 one_to_one MONDO:0010505 intellectual disability-balding-patella luxation-acromicria syndrome SCTID SCTID:722002002 one_to_one @@ -63346,7 +63508,7 @@ MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 OMIM MONDO:0010522 X-linked amelogenesis imperfecta hypoplastic/hypomaturation 2 UMLS UMLS:C1845051 one_to_one MONDO:0010523 X-linked reticulate pigmentary disorder ICD10 ICD10:E85.0+,ICD10:L99.0* inexact MONDO:0010523 X-linked reticulate pigmentary disorder MESH MESH:C564461 one_to_one -MONDO:0010523 X-linked reticulate pigmentary disorder MONDO MONDO:0015710,MONDO:0015938,MONDO:0018782,MONDO:0019043,MONDO:0020215 subclass +MONDO:0010523 X-linked reticulate pigmentary disorder MONDO MONDO:0002320,MONDO:0015710,MONDO:0015938,MONDO:0018782,MONDO:0019043,MONDO:0020215 subclass MONDO:0010523 X-linked reticulate pigmentary disorder OMIM OMIM:301220 one_to_one MONDO:0010523 X-linked reticulate pigmentary disorder Orphanet Orphanet:85453 one_to_one MONDO:0010523 X-linked reticulate pigmentary disorder SCTID SCTID:717224002 one_to_one @@ -63402,14 +63564,14 @@ MONDO:0010530 anus, imperforate MONDO MONDO:0001046,MONDO:0015616,MONDO:0018916 MONDO:0010530 anus, imperforate OMIM OMIM:207500,OMIM:301800 inexact MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome GARD GARD:0001515 one_to_one MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO MONDO:0015335,MONDO:0015958,MONDO:0015983,MONDO:0019287 subclass +MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome MONDO MONDO:0002320,MONDO:0015335,MONDO:0015958,MONDO:0015983,MONDO:0019287 subclass MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome OMIM OMIM:301815 one_to_one MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome Orphanet Orphanet:1484 one_to_one MONDO:0010531 contractures-ectodermal dysplasia-cleft lip/palate syndrome SCTID SCTID:720746006 one_to_one MONDO:0010532 infantile-onset X-linked spinal muscular atrophy GARD GARD:0008521 one_to_one MONDO:0010532 infantile-onset X-linked spinal muscular atrophy ICD10 ICD10:G12.1 inexact MONDO:0010532 infantile-onset X-linked spinal muscular atrophy MESH MESH:C535380 one_to_one -MONDO:0010532 infantile-onset X-linked spinal muscular atrophy MONDO MONDO:0001516,MONDO:0015168,MONDO:0015952,MONDO:0024257 subclass +MONDO:0010532 infantile-onset X-linked spinal muscular atrophy MONDO MONDO:0001516,MONDO:0002320,MONDO:0015168,MONDO:0015952,MONDO:0024257 subclass MONDO:0010532 infantile-onset X-linked spinal muscular atrophy OMIM OMIM:301830 one_to_one MONDO:0010532 infantile-onset X-linked spinal muscular atrophy Orphanet Orphanet:1145 one_to_one MONDO:0010532 infantile-onset X-linked spinal muscular atrophy SCTID SCTID:719836007 one_to_one @@ -63586,7 +63748,7 @@ MONDO:0010556 X-linked chondrodysplasia punctata DOID DOID:0060292 one_to_one MONDO:0010556 X-linked chondrodysplasia punctata GARD GARD:0006189 one_to_one MONDO:0010556 X-linked chondrodysplasia punctata HP HP:0001417 has_modifier MONDO:0010556 X-linked chondrodysplasia punctata ICD10 ICD10:Q77.3 inexact -MONDO:0010556 X-linked chondrodysplasia punctata MONDO MONDO:0000425,MONDO:0015775,MONDO:0015905,MONDO:0015958,MONDO:0015960,MONDO:0017133,MONDO:0019240,MONDO:0019701,MONDO:0020232 subclass +MONDO:0010556 X-linked chondrodysplasia punctata MONDO MONDO:0000425,MONDO:0002320,MONDO:0015775,MONDO:0015905,MONDO:0015958,MONDO:0015960,MONDO:0017133,MONDO:0019240,MONDO:0019701,MONDO:0020232 subclass MONDO:0010556 X-linked chondrodysplasia punctata OMIM OMIM:302960 one_to_one MONDO:0010556 X-linked chondrodysplasia punctata Orphanet Orphanet:35173 one_to_one MONDO:0010556 X-linked chondrodysplasia punctata http http://identifiers.org/hgnc/3133 disease_has_basis_in_dysfunction_of @@ -63595,7 +63757,7 @@ MONDO:0010557 choroideremia GARD GARD:0006061 one_to_one MONDO:0010557 choroideremia ICD10 ICD10:H31.2,ICD10:H31.21 inexact MONDO:0010557 choroideremia ICD9 ICD9:363.55 one_to_one MONDO:0010557 choroideremia MESH MESH:D015794 one_to_one -MONDO:0010557 choroideremia MONDO MONDO:0000425,MONDO:0001898,MONDO:0004589,MONDO:0016517,MONDO:0020241 subclass +MONDO:0010557 choroideremia MONDO MONDO:0000425,MONDO:0001898,MONDO:0016517,MONDO:0020241 subclass MONDO:0010557 choroideremia MedDRA MedDRA:10008791 one_to_one MONDO:0010557 choroideremia NCIT NCIT:C34469 one_to_one MONDO:0010557 choroideremia OMIM OMIM:303100 one_to_one @@ -63662,7 +63824,7 @@ MONDO:0010564 red-green color blindness DOID DOID:13909 one_to_one MONDO:0010564 red-green color blindness EFO EFO:0005581 one_to_one MONDO:0010564 red-green color blindness ICD10 ICD10:H53.53 one_to_one MONDO:0010564 red-green color blindness ICD9 ICD9:368.52 one_to_one -MONDO:0010564 red-green color blindness MONDO MONDO:0000014,MONDO:0003847,MONDO:0019117 subclass +MONDO:0010564 red-green color blindness MONDO MONDO:0000014,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0010564 red-green color blindness OMIM OMIM:303800 one_to_one MONDO:0010564 red-green color blindness SCTID SCTID:77479002 one_to_one MONDO:0010564 red-green color blindness UMLS UMLS:C0155016 one_to_one @@ -63836,7 +63998,7 @@ MONDO:0010587 epidermodysplasia verruciformis, X-linked MONDO MONDO:0000425,MOND MONDO:0010587 epidermodysplasia verruciformis, X-linked OMIM OMIM:305350 one_to_one MONDO:0010587 epidermodysplasia verruciformis, X-linked UMLS UMLS:C1844589 one_to_one MONDO:0010588 exudative vitreoretinopathy 2, X-linked MESH MESH:C564428 one_to_one -MONDO:0010588 exudative vitreoretinopathy 2, X-linked MONDO MONDO:0000425,MONDO:0019516,MONDO:0024237 subclass +MONDO:0010588 exudative vitreoretinopathy 2, X-linked MONDO MONDO:0000425,MONDO:0019516 subclass MONDO:0010588 exudative vitreoretinopathy 2, X-linked OMIM OMIM:305390 one_to_one MONDO:0010588 exudative vitreoretinopathy 2, X-linked UMLS UMLS:C1844579 one_to_one MONDO:0010588 exudative vitreoretinopathy 2, X-linked http http://identifiers.org/hgnc/7678 disease_has_basis_in_dysfunction_of @@ -63898,7 +64060,7 @@ MONDO:0010597 glutamyl ribose-5-phosphate storage disease UMLS UMLS:C1844440 one MONDO:0010598 glycogen storage disease IXa DOID DOID:0111042 one_to_one MONDO:0010598 glycogen storage disease IXa ICD10 ICD10:E74.0 inexact MONDO:0010598 glycogen storage disease IXa MESH MESH:C564421 one_to_one -MONDO:0010598 glycogen storage disease IXa MONDO MONDO:0013091 subclass +MONDO:0010598 glycogen storage disease IXa MONDO MONDO:0002412,MONDO:0013091 subclass MONDO:0010598 glycogen storage disease IXa OMIM OMIM:306000 one_to_one MONDO:0010598 glycogen storage disease IXa http http://identifiers.org/hgnc/8926 disease_has_basis_in_dysfunction_of MONDO:0010599 granulomas, congenital cerebral GARD GARD:0008368 one_to_one @@ -64006,7 +64168,7 @@ MONDO:0010615 isolated growth hormone deficiency type III SCTID SCTID:234533006 MONDO:0010615 isolated growth hormone deficiency type III http http://identifiers.org/hgnc/1133 disease_has_basis_in_dysfunction_of MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome MESH MESH:C564406 one_to_one -MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome MONDO MONDO:0015159,MONDO:0015906,MONDO:0015983,MONDO:0043005 subclass +MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015906,MONDO:0015983,MONDO:0043005 subclass MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome OMIM OMIM:307500 one_to_one MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome Orphanet Orphanet:2234 one_to_one MONDO:0010617 male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome SCTID SCTID:722459008 one_to_one @@ -64106,7 +64268,7 @@ MONDO:0010631 Bloch-Sulzberger syndrome EFO EFO:1000672 one_to_one MONDO:0010631 Bloch-Sulzberger syndrome GARD GARD:0006778 one_to_one MONDO:0010631 Bloch-Sulzberger syndrome ICD10 ICD10:Q82.3 one_to_one MONDO:0010631 Bloch-Sulzberger syndrome MESH MESH:D007184 one_to_one -MONDO:0010631 Bloch-Sulzberger syndrome MONDO MONDO:0002297,MONDO:0015651,MONDO:0015653,MONDO:0017133,MONDO:0019287,MONDO:0019288,MONDO:0020014,MONDO:0020119,MONDO:0020174,MONDO:0020233,MONDO:0020247,MONDO:0020276,MONDO:0021211 subclass +MONDO:0010631 Bloch-Sulzberger syndrome MONDO MONDO:0002297,MONDO:0015651,MONDO:0015653,MONDO:0017133,MONDO:0019287,MONDO:0019288,MONDO:0020014,MONDO:0020119,MONDO:0020174,MONDO:0020233,MONDO:0020247,MONDO:0020276,MONDO:0021211,MONDO:0021231,MONDO:0021581 subclass MONDO:0010631 Bloch-Sulzberger syndrome OMIM OMIM:308300 one_to_one MONDO:0010631 Bloch-Sulzberger syndrome Orphanet Orphanet:464 one_to_one MONDO:0010631 Bloch-Sulzberger syndrome UMLS UMLS:C0021171 one_to_one @@ -64194,7 +64356,7 @@ MONDO:0010645 oculocerebrorenal syndrome SCTID SCTID:79385002 one_to_one MONDO:0010645 oculocerebrorenal syndrome UMLS UMLS:C0028860 one_to_one MONDO:0010645 oculocerebrorenal syndrome http http://identifiers.org/hgnc/8108 disease_has_basis_in_dysfunction_of MONDO:0010646 macular dystrophy, X-linked MESH MESH:C564110 one_to_one -MONDO:0010646 macular dystrophy, X-linked MONDO MONDO:0000425,MONDO:0004589,MONDO:0020242 subclass +MONDO:0010646 macular dystrophy, X-linked MONDO MONDO:0000425,MONDO:0020242 subclass MONDO:0010646 macular dystrophy, X-linked OMIM OMIM:309100 one_to_one MONDO:0010646 macular dystrophy, X-linked UMLS UMLS:C1839842 one_to_one MONDO:0010647 spermatogenic failure, X-linked, 2 MONDO MONDO:0004983,MONDO:0018393 subclass @@ -64203,7 +64365,7 @@ MONDO:0010647 spermatogenic failure, X-linked, 2 UMLS UMLS:C1839841 one_to_one MONDO:0010647 spermatogenic failure, X-linked, 2 http http://identifiers.org/hgnc/11733 disease_has_basis_in_dysfunction_of MONDO:0010648 MAFD2 DOID DOID:0080221 one_to_one MONDO:0010648 MAFD2 MESH MESH:C564108 one_to_one -MONDO:0010648 MAFD2 MONDO MONDO:0000693,MONDO:0003847,MONDO:0019117 subclass +MONDO:0010648 MAFD2 MONDO MONDO:0000693,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0010648 MAFD2 OMIM OMIM:309200 one_to_one MONDO:0010649 isolated congenital megalocornea GARD GARD:0012648 one_to_one MONDO:0010649 isolated congenital megalocornea ICD10 ICD10:Q15.8 inexact @@ -64469,7 +64631,7 @@ MONDO:0010684 X-linked myopathy with excessive autophagy SCTID SCTID:719815005 o MONDO:0010684 X-linked myopathy with excessive autophagy UMLS UMLS:C1839615,UMLS:C2931230 inexact MONDO:0010684 X-linked myopathy with excessive autophagy http http://identifiers.org/hgnc/22082 disease_has_basis_in_dysfunction_of MONDO:0010685 MYP1 MESH MESH:C564091 one_to_one -MONDO:0010685 MYP1 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0010685 MYP1 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0010685 MYP1 OMIM OMIM:310460 one_to_one MONDO:0010685 MYP1 UMLS UMLS:C1839612 one_to_one MONDO:0010686 N syndrome DOID DOID:0050769 one_to_one @@ -64523,7 +64685,7 @@ MONDO:0010693 nystagmus 1, congenital, X-linked UMLS UMLS:C1839580 one_to_one MONDO:0010693 nystagmus 1, congenital, X-linked http http://identifiers.org/hgnc/8079 disease_has_basis_in_dysfunction_of MONDO:0010694 nystagmus, myoclonic GARD GARD:0009605 one_to_one MONDO:0010694 nystagmus, myoclonic MESH MESH:C564088 one_to_one -MONDO:0010694 nystagmus, myoclonic MONDO MONDO:0003847,MONDO:0005712 subclass +MONDO:0010694 nystagmus, myoclonic MONDO MONDO:0002320,MONDO:0003847,MONDO:0005712 subclass MONDO:0010694 nystagmus, myoclonic OMIM OMIM:310800 one_to_one MONDO:0010694 nystagmus, myoclonic UMLS UMLS:C1839579 one_to_one MONDO:0010695 occipital hair, white lock of MONDO MONDO:0003847 subclass @@ -64718,7 +64880,7 @@ MONDO:0010725 X-linked retinoschisis DOID DOID:0060763 one_to_one MONDO:0010725 X-linked retinoschisis GARD GARD:0004690 one_to_one MONDO:0010725 X-linked retinoschisis HP HP:0001417 has_modifier MONDO:0010725 X-linked retinoschisis ICD10 ICD10:Q14.1 inexact -MONDO:0010725 X-linked retinoschisis MONDO MONDO:0000425,MONDO:0004579,MONDO:0004589,MONDO:0015217,MONDO:0020244,MONDO:0020248,MONDO:0024237 subclass +MONDO:0010725 X-linked retinoschisis MONDO MONDO:0000425,MONDO:0004579,MONDO:0015217,MONDO:0020244,MONDO:0020248 subclass MONDO:0010725 X-linked retinoschisis NCIT NCIT:C75483 one_to_one MONDO:0010725 X-linked retinoschisis OMIM OMIM:312700 one_to_one MONDO:0010725 X-linked retinoschisis Orphanet Orphanet:792 one_to_one @@ -64781,7 +64943,7 @@ MONDO:0010732 spastic paraparesis-deafness syndrome UMLS UMLS:C2931291 one_to_on MONDO:0010733 hereditary spastic paraplegia 2 DOID DOID:0110773 one_to_one MONDO:0010733 hereditary spastic paraplegia 2 GARD GARD:0004923 one_to_one MONDO:0010733 hereditary spastic paraplegia 2 ICD10 ICD10:G11.4 inexact -MONDO:0010733 hereditary spastic paraplegia 2 MONDO MONDO:0004884,MONDO:0015150,MONDO:0017916,MONDO:0018609,MONDO:0019046,MONDO:0019064 subclass +MONDO:0010733 hereditary spastic paraplegia 2 MONDO MONDO:0001835,MONDO:0004884,MONDO:0015150,MONDO:0017916,MONDO:0018609,MONDO:0019046,MONDO:0019064 subclass MONDO:0010733 hereditary spastic paraplegia 2 OMIM OMIM:312920 one_to_one MONDO:0010733 hereditary spastic paraplegia 2 Orphanet Orphanet:99015 one_to_one MONDO:0010733 hereditary spastic paraplegia 2 UMLS UMLS:C1839264 one_to_one @@ -64950,7 +65112,7 @@ MONDO:0010761 retinitis pigmentosa Y-linked DOID DOID:0110418 one_to_one MONDO:0010761 retinitis pigmentosa Y-linked HP HP:0001450 has_modifier MONDO:0010761 retinitis pigmentosa Y-linked ICD10 ICD10:H35.5 inexact MONDO:0010761 retinitis pigmentosa Y-linked MESH MESH:C564035 one_to_one -MONDO:0010761 retinitis pigmentosa Y-linked MONDO MONDO:0000428,MONDO:0004589,MONDO:0019200 subclass +MONDO:0010761 retinitis pigmentosa Y-linked MONDO MONDO:0000428,MONDO:0019200 subclass MONDO:0010761 retinitis pigmentosa Y-linked OMIM OMIM:400004 one_to_one MONDO:0010761 retinitis pigmentosa Y-linked UMLS UMLS:C1839079 one_to_one MONDO:0010762 lymphoma, Hodgkin, Y-linked pseudoautosomal MESH MESH:C564034 one_to_one @@ -64966,6 +65128,7 @@ MONDO:0010765 46,XY complete gonadal dysgenesis DOID DOID:14448 one_to_one MONDO:0010765 46,XY complete gonadal dysgenesis GARD GARD:0005068 one_to_one MONDO:0010765 46,XY complete gonadal dysgenesis ICD10 ICD10:Q99.1 inexact MONDO:0010765 46,XY complete gonadal dysgenesis MESH MESH:D006061 one_to_one +MONDO:0010765 46,XY complete gonadal dysgenesis MONDO MONDO:0019520 excluded_subClassOf MONDO:0010765 46,XY complete gonadal dysgenesis MONDO MONDO:0001967,MONDO:0016329,MONDO:0017966,MONDO:0020038 subclass MONDO:0010765 46,XY complete gonadal dysgenesis NCIT NCIT:C120198 one_to_one MONDO:0010765 46,XY complete gonadal dysgenesis OMIM OMIM:400044 one_to_one @@ -65020,7 +65183,7 @@ MONDO:0010772 Leber optic atrophy and dystonia UMLS UMLS:C1839040 one_to_one MONDO:0010773 myopathy and diabetes mellitus GARD GARD:0003881 one_to_one MONDO:0010773 myopathy and diabetes mellitus ICD10 ICD10:G71.3 inexact MONDO:0010773 myopathy and diabetes mellitus MESH MESH:C564026 one_to_one -MONDO:0010773 myopathy and diabetes mellitus MONDO MONDO:0015888,MONDO:0015960,MONDO:0015967,MONDO:0016117,MONDO:0016794 subclass +MONDO:0010773 myopathy and diabetes mellitus MONDO MONDO:0002320,MONDO:0015888,MONDO:0015960,MONDO:0015967,MONDO:0016117,MONDO:0016794 subclass MONDO:0010773 myopathy and diabetes mellitus OMIM OMIM:500002 one_to_one MONDO:0010773 myopathy and diabetes mellitus Orphanet Orphanet:2596 one_to_one MONDO:0010773 myopathy and diabetes mellitus UMLS UMLS:C1839028 one_to_one @@ -65089,7 +65252,7 @@ MONDO:0010787 Kearns-Sayre syndrome DOID DOID:12934 one_to_one MONDO:0010787 Kearns-Sayre syndrome GARD GARD:0006817 one_to_one MONDO:0010787 Kearns-Sayre syndrome ICD10 ICD10:H49.8,ICD10:H49.81 inexact MONDO:0010787 Kearns-Sayre syndrome MESH MESH:D007625 one_to_one -MONDO:0010787 Kearns-Sayre syndrome MONDO MONDO:0004589,MONDO:0005181,MONDO:0015895,MONDO:0016335,MONDO:0016402,MONDO:0016403,MONDO:0016792,MONDO:0019058,MONDO:0019589,MONDO:0020240,MONDO:0020253,MONDO:0020259,MONDO:0020265 subclass +MONDO:0010787 Kearns-Sayre syndrome MONDO MONDO:0005181,MONDO:0015895,MONDO:0016335,MONDO:0016402,MONDO:0016403,MONDO:0016792,MONDO:0019058,MONDO:0019589,MONDO:0020240,MONDO:0020253,MONDO:0020259,MONDO:0020265 subclass MONDO:0010787 Kearns-Sayre syndrome MedDRA MedDRA:10048804 one_to_one MONDO:0010787 Kearns-Sayre syndrome NCIT NCIT:C84798 one_to_one MONDO:0010787 Kearns-Sayre syndrome OMIM OMIM:530000 one_to_one @@ -65363,7 +65526,7 @@ MONDO:0010823 rhizomelic chondrodysplasia punctata type 3 http http://identifier MONDO:0010824 disorder of sex development-intellectual disability syndrome GARD GARD:0004550 one_to_one MONDO:0010824 disorder of sex development-intellectual disability syndrome ICD10 ICD10:Q56.3 inexact MONDO:0010824 disorder of sex development-intellectual disability syndrome MESH MESH:C535693 one_to_one -MONDO:0010824 disorder of sex development-intellectual disability syndrome MONDO MONDO:0015983,MONDO:0017978,MONDO:0020042 subclass +MONDO:0010824 disorder of sex development-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0017978,MONDO:0020042 subclass MONDO:0010824 disorder of sex development-intellectual disability syndrome OMIM OMIM:600122 one_to_one MONDO:0010824 disorder of sex development-intellectual disability syndrome Orphanet Orphanet:2983 one_to_one MONDO:0010824 disorder of sex development-intellectual disability syndrome SCTID SCTID:719450007 one_to_one @@ -65435,7 +65598,7 @@ MONDO:0010834 HSCR5 OMIM OMIM:600156 one_to_one MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome GARD GARD:0004568 one_to_one MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome ICD10 ICD10:Q87.0 inexact MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome MESH MESH:C535831 one_to_one -MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome OMIM OMIM:600159 one_to_one MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome Orphanet Orphanet:2988 one_to_one MONDO:0010835 pterygium colli-intellectual disability-digital anomalies syndrome SCTID SCTID:719256004 one_to_one @@ -65485,7 +65648,7 @@ MONDO:0010842 multiple cutaneous and mucosal venous malformations OMIM OMIM:6001 MONDO:0010842 multiple cutaneous and mucosal venous malformations Orphanet Orphanet:2451 one_to_one MONDO:0010842 multiple cutaneous and mucosal venous malformations SCTID SCTID:699301008 one_to_one MONDO:0010842 multiple cutaneous and mucosal venous malformations http http://identifiers.org/hgnc/11724 disease_has_basis_in_dysfunction_of -MONDO:0010843 DYX2 MONDO MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass +MONDO:0010843 DYX2 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass MONDO:0010843 DYX2 OMIM OMIM:600202 one_to_one MONDO:0010843 DYX2 http http://identifiers.org/hgnc/21580 disease_has_basis_in_dysfunction_of MONDO:0010844 epiphyseal dysplasia, multiple, 2 GARD GARD:0009791 one_to_one @@ -65575,7 +65738,7 @@ MONDO:0010857 semantic dementia Orphanet Orphanet:100069 one_to_one MONDO:0010857 semantic dementia http http://identifiers.org/hgnc/6893,http://identifiers.org/hgnc/9508 disease_has_basis_in_dysfunction_of MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome MESH MESH:C563963 one_to_one -MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome MONDO MONDO:0015150,MONDO:0015159,MONDO:0015983,MONDO:0017915 subclass +MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome MONDO MONDO:0002320,MONDO:0015150,MONDO:0015159,MONDO:0015983,MONDO:0017915 subclass MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome OMIM OMIM:600302 one_to_one MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome Orphanet Orphanet:2429 one_to_one MONDO:0010858 macrocephaly-spastic paraplegia-dysmorphism syndrome SCTID SCTID:716108004 one_to_one @@ -65619,7 +65782,7 @@ MONDO:0010864 type 1 diabetes mellitus 7 UMLS UMLS:C1838259 one_to_one MONDO:0010865 pseudoaminopterin syndrome GARD GARD:0004544 one_to_one MONDO:0010865 pseudoaminopterin syndrome ICD10 ICD10:Q82.0 inexact MONDO:0010865 pseudoaminopterin syndrome MESH MESH:C535823 one_to_one -MONDO:0010865 pseudoaminopterin syndrome MONDO MONDO:0015159,MONDO:0015338,MONDO:0015983,MONDO:0043005 subclass +MONDO:0010865 pseudoaminopterin syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015338,MONDO:0015983,MONDO:0043005 subclass MONDO:0010865 pseudoaminopterin syndrome OMIM OMIM:600325 one_to_one MONDO:0010865 pseudoaminopterin syndrome Orphanet Orphanet:221120 one_to_one MONDO:0010865 pseudoaminopterin syndrome SCTID SCTID:715867000 one_to_one @@ -65643,7 +65806,7 @@ MONDO:0010868 RMD1 MONDO MONDO:0011634 subclass MONDO:0010868 RMD1 OMIM OMIM:600332 one_to_one MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia MESH MESH:C563954 one_to_one MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia MONDO MONDO:0001627,MONDO:0003425 disease_has_feature -MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia MONDO MONDO:0003847,MONDO:0024257 subclass +MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia MONDO MONDO:0002320,MONDO:0003847,MONDO:0024257 subclass MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia OMIM OMIM:600333 one_to_one MONDO:0010869 motor neuron disease with dementia and ophthalmoplegia UMLS UMLS:C1838253 one_to_one MONDO:0010870 tibial muscular dystrophy DOID DOID:0111078 one_to_one @@ -65745,7 +65908,7 @@ MONDO:0010886 2q37 microdeletion syndrome GARD GARD:0010202 one_to_one MONDO:0010886 2q37 microdeletion syndrome ICD10 ICD10:Q93.5 inexact MONDO:0010886 2q37 microdeletion syndrome ICD9 ICD9:758.39 inexact MONDO:0010886 2q37 microdeletion syndrome MESH MESH:C538317 one_to_one -MONDO:0010886 2q37 microdeletion syndrome MONDO MONDO:0015983,MONDO:0016901,MONDO:0019066 subclass +MONDO:0010886 2q37 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0016901,MONDO:0019066 subclass MONDO:0010886 2q37 microdeletion syndrome NCIT NCIT:C129021 one_to_one MONDO:0010886 2q37 microdeletion syndrome OMIM OMIM:600430 one_to_one MONDO:0010886 2q37 microdeletion syndrome Orphanet Orphanet:1001 one_to_one @@ -65781,7 +65944,7 @@ MONDO:0010889 arterial dissection-lentiginosis syndrome UMLS UMLS:C1838122 one_t MONDO:0010890 acrocardiofacial syndrome GARD GARD:0001167 one_to_one MONDO:0010890 acrocardiofacial syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010890 acrocardiofacial syndrome MESH MESH:C563936 one_to_one -MONDO:0010890 acrocardiofacial syndrome MONDO MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass +MONDO:0010890 acrocardiofacial syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass MONDO:0010890 acrocardiofacial syndrome OMIM OMIM:600460 one_to_one MONDO:0010890 acrocardiofacial syndrome Orphanet Orphanet:2008 one_to_one MONDO:0010890 acrocardiofacial syndrome UMLS UMLS:C1838121 one_to_one @@ -65822,7 +65985,7 @@ MONDO:0010895 ABCD syndrome http http://identifiers.org/hgnc/3180 disease_has_ba MONDO:0010896 pigment dispersion syndrome DOID DOID:0060680 one_to_one MONDO:0010896 pigment dispersion syndrome GARD GARD:0004356 one_to_one MONDO:0010896 pigment dispersion syndrome MESH MESH:C563184 one_to_one -MONDO:0010896 pigment dispersion syndrome MONDO MONDO:0003847,MONDO:0015107 subclass +MONDO:0010896 pigment dispersion syndrome MONDO MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0010896 pigment dispersion syndrome OMIM OMIM:600510 one_to_one MONDO:0010896 pigment dispersion syndrome SCTID SCTID:392133001 one_to_one MONDO:0010896 pigment dispersion syndrome UMLS UMLS:C1271398 one_to_one @@ -65878,6 +66041,7 @@ MONDO:0010905 cone-rod dystrophy 1 MESH MESH:C563469 one_to_one MONDO:0010905 cone-rod dystrophy 1 MONDO MONDO:0015993 subclass MONDO:0010905 cone-rod dystrophy 1 OMIM OMIM:600624 one_to_one MONDO:0010905 cone-rod dystrophy 1 UMLS UMLS:C1833564 one_to_one +MONDO:0010906 orofacial cleft 11 MONDO MONDO:0021128 has_modifier MONDO:0010906 orofacial cleft 11 MONDO MONDO:0000358,MONDO:0016044 subclass MONDO:0010906 orofacial cleft 11 OMIM OMIM:600625 one_to_one MONDO:0010906 orofacial cleft 11 UMLS UMLS:C2677434 one_to_one @@ -65912,7 +66076,7 @@ MONDO:0010911 prolactin-producing pituitary gland adenoma GARD GARD:0004508 one_ MONDO:0010911 prolactin-producing pituitary gland adenoma ICD10 ICD10:D35.2,ICD10:E22.1 inexact MONDO:0010911 prolactin-producing pituitary gland adenoma ICDO ICDO:8271/0 one_to_one MONDO:0010911 prolactin-producing pituitary gland adenoma MESH MESH:D015175 one_to_one -MONDO:0010911 prolactin-producing pituitary gland adenoma MONDO MONDO:0003430,MONDO:0015513,MONDO:0015958,MONDO:0015981,MONDO:0017824,MONDO:0018405,MONDO:0018411,MONDO:0019117 subclass +MONDO:0010911 prolactin-producing pituitary gland adenoma MONDO MONDO:0002320,MONDO:0003430,MONDO:0015513,MONDO:0015958,MONDO:0015981,MONDO:0017824,MONDO:0018405,MONDO:0018411,MONDO:0019117 subclass MONDO:0010911 prolactin-producing pituitary gland adenoma MedDRA MedDRA:10036832 one_to_one MONDO:0010911 prolactin-producing pituitary gland adenoma NCIT NCIT:C3342 one_to_one MONDO:0010911 prolactin-producing pituitary gland adenoma OMIM OMIM:600634 one_to_one @@ -65961,7 +66125,7 @@ MONDO:0010917 CCAL1 MONDO MONDO:0007319 subclass MONDO:0010917 CCAL1 OMIM OMIM:600668 one_to_one MONDO:0010918 EIG ICD9 ICD9:345.10 inexact MONDO:0010918 EIG MESH MESH:C562694 one_to_one -MONDO:0010918 EIG MONDO MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass +MONDO:0010918 EIG MONDO MONDO:0002320,MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass MONDO:0010918 EIG OMIM OMIM:600669 one_to_one MONDO:0010918 EIG SCTID SCTID:36803009 one_to_one MONDO:0010919 varicella, severe recurrent MESH MESH:C563458 one_to_one @@ -65979,7 +66143,7 @@ MONDO:0010920 microtia Orphanet Orphanet:83463 one_to_one MONDO:0010920 microtia SCTID SCTID:35045004 one_to_one MONDO:0010921 nasal dermoid cyst ICD10 ICD10:Q18.8 inexact MONDO:0010921 nasal dermoid cyst MESH MESH:C563455 one_to_one -MONDO:0010921 nasal dermoid cyst MONDO MONDO:0002378,MONDO:0002436,MONDO:0015380,MONDO:0015510,MONDO:0015960,MONDO:0018751,MONDO:0019041,MONDO:0019117,MONDO:0020036 subclass +MONDO:0010921 nasal dermoid cyst MONDO MONDO:0002320,MONDO:0002378,MONDO:0002436,MONDO:0015380,MONDO:0015960,MONDO:0018751,MONDO:0019041,MONDO:0019117,MONDO:0020036 subclass MONDO:0010921 nasal dermoid cyst OMIM OMIM:600679 one_to_one MONDO:0010921 nasal dermoid cyst Orphanet Orphanet:141103 one_to_one MONDO:0010921 nasal dermoid cyst UBERON UBERON:0000004 disease_has_location @@ -66020,7 +66184,7 @@ MONDO:0010926 familial hypocalciuric hypercalcemia 3 Orphanet Orphanet:101050 on MONDO:0010926 familial hypocalciuric hypercalcemia 3 UMLS UMLS:C1833372 one_to_one MONDO:0010926 familial hypocalciuric hypercalcemia 3 http http://identifiers.org/hgnc/565 disease_has_basis_in_dysfunction_of MONDO:0010927 OFC3 MESH MESH:C563448 one_to_one -MONDO:0010927 OFC3 MONDO MONDO:0015420,MONDO:0016043,MONDO:0016044 subclass +MONDO:0010927 OFC3 MONDO MONDO:0007336,MONDO:0016043 subclass MONDO:0010927 OFC3 OMIM OMIM:600757 one_to_one MONDO:0010927 OFC3 UMLS UMLS:C1833369 one_to_one MONDO:0010928 dwarfism, familial, with muscle spasms GARD GARD:0010610 one_to_one @@ -66377,7 +66541,7 @@ MONDO:0010987 autosomal recessive nonsyndromic deafness 8 OMIM OMIM:601072 one_t MONDO:0010987 autosomal recessive nonsyndromic deafness 8 UMLS UMLS:C1832827 one_to_one MONDO:0010988 aplasia cutis-myopia syndrome ICD10 ICD10:Q84.8 inexact MONDO:0010988 aplasia cutis-myopia syndrome MESH MESH:C563394 one_to_one -MONDO:0010988 aplasia cutis-myopia syndrome MONDO MONDO:0015331,MONDO:0019294,MONDO:0020208 subclass +MONDO:0010988 aplasia cutis-myopia syndrome MONDO MONDO:0002320,MONDO:0015331,MONDO:0019294,MONDO:0020208 subclass MONDO:0010988 aplasia cutis-myopia syndrome OMIM OMIM:601075 one_to_one MONDO:0010988 aplasia cutis-myopia syndrome Orphanet Orphanet:1117 one_to_one MONDO:0010988 aplasia cutis-myopia syndrome SCTID SCTID:720499004 one_to_one @@ -66404,7 +66568,7 @@ MONDO:0010992 AymC)-Gripp syndrome http http://identifiers.org/hgnc/6776 disease MONDO:0010993 Harrod syndrome GARD GARD:0002601 one_to_one MONDO:0010993 Harrod syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010993 Harrod syndrome MESH MESH:C535635 one_to_one -MONDO:0010993 Harrod syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0010993 Harrod syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0010993 Harrod syndrome OMIM OMIM:601095 one_to_one MONDO:0010993 Harrod syndrome Orphanet Orphanet:2115 one_to_one MONDO:0010993 Harrod syndrome SCTID SCTID:716089008 one_to_one @@ -66449,7 +66613,7 @@ MONDO:0010998 ALG3-CDG http http://identifiers.org/hgnc/23056 disease_has_basis_ MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome GARD GARD:0000893 one_to_one MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome ICD10 ICD10:Q87.8 inexact MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome MESH MESH:C536608 one_to_one -MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome OMIM OMIM:601127 one_to_one MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome Orphanet Orphanet:3304 one_to_one MONDO:0010999 fallot complex-intellectual disability-growth delay syndrome UMLS UMLS:C1832735 one_to_one @@ -66485,7 +66649,7 @@ MONDO:0011005 trisomy 18-like syndrome UMLS UMLS:C1832677 one_to_one MONDO:0011006 hereditary spastic paraplegia 9A DOID DOID:0110824 one_to_one MONDO:0011006 hereditary spastic paraplegia 9A ICD10 ICD10:G11.4 inexact MONDO:0011006 hereditary spastic paraplegia 9A MESH MESH:C536868 one_to_one -MONDO:0011006 hereditary spastic paraplegia 9A MONDO MONDO:0004884,MONDO:0015091,MONDO:0020225 subclass +MONDO:0011006 hereditary spastic paraplegia 9A MONDO MONDO:0001835,MONDO:0004884,MONDO:0015091,MONDO:0020225 subclass MONDO:0011006 hereditary spastic paraplegia 9A OMIM OMIM:601162 one_to_one MONDO:0011006 hereditary spastic paraplegia 9A Orphanet Orphanet:447753 one_to_one MONDO:0011007 diaphragmatic defect-limb deficiency-skull defect syndrome GARD GARD:0002397 one_to_one @@ -66520,7 +66684,7 @@ MONDO:0011010 Matthew-wood syndrome http http://identifiers.org/hgnc/30650 disea MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome GARD GARD:0000350 one_to_one MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome ICD10 ICD10:Q87.5 inexact MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome MESH MESH:C537625 one_to_one -MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome MONDO MONDO:0015983,MONDO:0019066 subclass +MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0019066 subclass MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome OMIM OMIM:601187 one_to_one MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome Orphanet Orphanet:1858 one_to_one MONDO:0011011 skeletal dysplasia-epilepsy-short stature syndrome SCTID SCTID:715428003 one_to_one @@ -66756,13 +66920,13 @@ MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome SCTID SCTID:7 MONDO:0011047 deafness-epiphyseal dysplasia-short stature syndrome UMLS UMLS:C1832438 one_to_one MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome GARD GARD:0000836 one_to_one MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome OMIM OMIM:601352 one_to_one MONDO:0011048 epilepsy-microcephaly-skeletal dysplasia syndrome Orphanet Orphanet:1948 one_to_one MONDO:0011049 fine-Lubinsky syndrome GARD GARD:0000958 one_to_one MONDO:0011049 fine-Lubinsky syndrome ICD10 ICD10:Q87.8 inexact MONDO:0011049 fine-Lubinsky syndrome MESH MESH:C537933 one_to_one -MONDO:0011049 fine-Lubinsky syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0020225 subclass +MONDO:0011049 fine-Lubinsky syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0020225 subclass MONDO:0011049 fine-Lubinsky syndrome OMIM OMIM:601353 one_to_one MONDO:0011049 fine-Lubinsky syndrome Orphanet Orphanet:1272 one_to_one MONDO:0011049 fine-Lubinsky syndrome SCTID SCTID:720955004 one_to_one @@ -66786,7 +66950,7 @@ MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma OMIM OMIM:6013 MONDO:0011052 amelia cleft lip palate hydrocephalus iris coloboma UMLS UMLS:C1832434 one_to_one MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome GARD GARD:0000270 one_to_one MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome MESH MESH:C536116 one_to_one -MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome OMIM OMIM:601358 one_to_one MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome Orphanet Orphanet:3051 one_to_one MONDO:0011053 intellectual disability-sparse hair-brachydactyly syndrome SCTID SCTID:401046009 one_to_one @@ -66847,7 +67011,7 @@ MONDO:0011060 early-onset non-syndromic cataract Orphanet Orphanet:91492 one_to_ MONDO:0011060 early-onset non-syndromic cataract UMLS UMLS:C1832423 one_to_one MONDO:0011061 chorea, remitting, with nystagmus and cataract GARD GARD:0009606 one_to_one MONDO:0011061 chorea, remitting, with nystagmus and cataract MESH MESH:C535355 one_to_one -MONDO:0011061 chorea, remitting, with nystagmus and cataract MONDO MONDO:0001595,MONDO:0003847,MONDO:0015957 subclass +MONDO:0011061 chorea, remitting, with nystagmus and cataract MONDO MONDO:0001595,MONDO:0002320,MONDO:0003847,MONDO:0015957 subclass MONDO:0011061 chorea, remitting, with nystagmus and cataract OMIM OMIM:601372 one_to_one MONDO:0011061 chorea, remitting, with nystagmus and cataract UMLS UMLS:C1832422 one_to_one MONDO:0011062 aprosencephaly cerebellar dysgenesis ICD10 ICD10:Q04.3 inexact @@ -67148,7 +67312,7 @@ MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy DOID DOID MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy GARD GARD:0003066 one_to_one MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy ICD10 ICD10:Q84.0 inexact MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy MESH MESH:C537698 one_to_one -MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy MONDO MONDO:0003037,MONDO:0004589,MONDO:0015946,MONDO:0019268,MONDO:0019287,MONDO:0020244 subclass +MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy MONDO MONDO:0003037,MONDO:0015946,MONDO:0019268,MONDO:0019287,MONDO:0020244 subclass MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy OMIM OMIM:601553 one_to_one MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy Orphanet Orphanet:1573 one_to_one MONDO:0011107 congenital hypotrichosis with juvenile macular dystrophy UMLS UMLS:C1832162 one_to_one @@ -67280,7 +67444,7 @@ MONDO:0011128 Sheldon-hall syndrome Orphanet Orphanet:1147 one_to_one MONDO:0011128 Sheldon-hall syndrome UMLS UMLS:C1834523 one_to_one MONDO:0011128 Sheldon-hall syndrome http http://identifiers.org/hgnc/11946,http://identifiers.org/hgnc/11950,http://identifiers.org/hgnc/12011 disease_has_basis_in_dysfunction_of MONDO:0011129 glaucoma type 1C GARD GARD:0002484 one_to_one -MONDO:0011129 glaucoma type 1C MONDO MONDO:0005338,MONDO:0018174 subclass +MONDO:0011129 glaucoma type 1C MONDO MONDO:0005338,MONDO:0020366 subclass MONDO:0011129 glaucoma type 1C OMIM OMIM:601682 one_to_one MONDO:0011129 glaucoma type 1C UMLS UMLS:C1866483 one_to_one MONDO:0011130 sebaceous gland hyperplasia, familial presenile GARD GARD:0010031 one_to_one @@ -67615,7 +67779,7 @@ MONDO:0011183 Paget disease of bone 2, early-onset OMIM OMIM:602080 one_to_one MONDO:0011183 Paget disease of bone 2, early-onset UMLS UMLS:C4085251 one_to_one MONDO:0011183 Paget disease of bone 2, early-onset http http://identifiers.org/hgnc/11280,http://identifiers.org/hgnc/11908 disease_has_basis_in_dysfunction_of MONDO:0011184 childhood apraxia of speech GARD GARD:0012889 one_to_one -MONDO:0011184 childhood apraxia of speech ICD9 ICD9:315.39 one_to_one +MONDO:0011184 childhood apraxia of speech ICD9 ICD9:315.39 inexact MONDO:0011184 childhood apraxia of speech MONDO MONDO:0016226,MONDO:0019117 subclass MONDO:0011184 childhood apraxia of speech OMIM OMIM:602081 one_to_one MONDO:0011184 childhood apraxia of speech Orphanet Orphanet:209908 one_to_one @@ -67723,11 +67887,11 @@ MONDO:0011200 torsion dystonia 7 MONDO MONDO:0000477,MONDO:0044807 subclass MONDO:0011200 torsion dystonia 7 OMIM OMIM:602124 one_to_one MONDO:0011201 ETM2 GARD GARD:0009500 one_to_one MONDO:0011201 ETM2 MESH MESH:C536546 one_to_one -MONDO:0011201 ETM2 MONDO MONDO:0003233,MONDO:0003847,MONDO:0015957 subclass +MONDO:0011201 ETM2 MONDO MONDO:0002320,MONDO:0003233,MONDO:0003847,MONDO:0015957 subclass MONDO:0011201 ETM2 OMIM OMIM:602134 one_to_one MONDO:0011202 RHYNS syndrome GARD GARD:0009681 one_to_one MONDO:0011202 RHYNS syndrome MESH MESH:C537612 one_to_one -MONDO:0011202 RHYNS syndrome MONDO MONDO:0004589,MONDO:0015962,MONDO:0019744,MONDO:0020240 subclass +MONDO:0011202 RHYNS syndrome MONDO MONDO:0015962,MONDO:0019744,MONDO:0020240 subclass MONDO:0011202 RHYNS syndrome OMIM OMIM:602152 one_to_one MONDO:0011202 RHYNS syndrome Orphanet Orphanet:140976 one_to_one MONDO:0011202 RHYNS syndrome UMLS UMLS:C1865794 one_to_one @@ -67781,7 +67945,7 @@ MONDO:0011212 sensorineural hearing loss, retinal pigment epithelium lesions, di MONDO:0011212 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth OMIM OMIM:602340 one_to_one MONDO:0011212 sensorineural hearing loss, retinal pigment epithelium lesions, discolored teeth UMLS UMLS:C1865645 one_to_one MONDO:0011213 Pierpont syndrome MESH MESH:C566559 one_to_one -MONDO:0011213 Pierpont syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019296,MONDO:0043005 subclass +MONDO:0011213 Pierpont syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019296,MONDO:0043005 subclass MONDO:0011213 Pierpont syndrome OMIM OMIM:602342 one_to_one MONDO:0011213 Pierpont syndrome Orphanet Orphanet:487825 one_to_one MONDO:0011213 Pierpont syndrome UMLS UMLS:C1865644 one_to_one @@ -67841,7 +68005,7 @@ MONDO:0011221 Weyers ulnar ray/oligodactyly syndrome MONDO MONDO:0003847 subclas MONDO:0011221 Weyers ulnar ray/oligodactyly syndrome OMIM OMIM:602418 one_to_one MONDO:0011221 Weyers ulnar ray/oligodactyly syndrome UMLS UMLS:C1865566 one_to_one MONDO:0011222 GLC1D MESH MESH:C566551 one_to_one -MONDO:0011222 GLC1D MONDO MONDO:0005338,MONDO:0018174 subclass +MONDO:0011222 GLC1D MONDO MONDO:0005338,MONDO:0020366 subclass MONDO:0011222 GLC1D OMIM OMIM:602429 one_to_one MONDO:0011222 GLC1D UMLS UMLS:C1865427 one_to_one MONDO:0011223 amyotrophic lateral sclerosis type 4 DOID DOID:0060196 one_to_one @@ -68000,7 +68164,7 @@ MONDO:0011246 megaconial type congenital muscular dystrophy DOID DOID:0110632 on MONDO:0011246 megaconial type congenital muscular dystrophy GARD GARD:0010317 one_to_one MONDO:0011246 megaconial type congenital muscular dystrophy ICD10 ICD10:G71.2 inexact MONDO:0011246 megaconial type congenital muscular dystrophy MESH MESH:C566527 one_to_one -MONDO:0011246 megaconial type congenital muscular dystrophy MONDO MONDO:0015123,MONDO:0018120,MONDO:0019950 subclass +MONDO:0011246 megaconial type congenital muscular dystrophy MONDO MONDO:0002320,MONDO:0015123,MONDO:0018120,MONDO:0019950 subclass MONDO:0011246 megaconial type congenital muscular dystrophy OMIM OMIM:602541 one_to_one MONDO:0011246 megaconial type congenital muscular dystrophy Orphanet Orphanet:280671 one_to_one MONDO:0011246 megaconial type congenital muscular dystrophy UMLS UMLS:C1865233 one_to_one @@ -68085,7 +68249,7 @@ MONDO:0011260 pancreatic lymphoma, familial OMIM OMIM:602596 one_to_one MONDO:0011260 pancreatic lymphoma, familial UMLS UMLS:C1865139 one_to_one MONDO:0011261 spondyloepiphyseal dysplasia, Nishimura type ICD10 ICD10:Q77.7 inexact MONDO:0011261 spondyloepiphyseal dysplasia, Nishimura type MESH MESH:C566515 one_to_one -MONDO:0011261 spondyloepiphyseal dysplasia, Nishimura type MONDO MONDO:0015335,MONDO:0015983,MONDO:0016761 subclass +MONDO:0011261 spondyloepiphyseal dysplasia, Nishimura type MONDO MONDO:0002320,MONDO:0015335,MONDO:0015983,MONDO:0016761 subclass MONDO:0011261 spondyloepiphyseal dysplasia, Nishimura type OMIM OMIM:602611 one_to_one MONDO:0011261 spondyloepiphyseal dysplasia, Nishimura type Orphanet Orphanet:163649 one_to_one MONDO:0011261 spondyloepiphyseal dysplasia, Nishimura type SCTID SCTID:718766002 one_to_one @@ -68116,7 +68280,7 @@ MONDO:0011266 myotonic dystrophy type 2 DOID DOID:0050759 one_to_one MONDO:0011266 myotonic dystrophy type 2 GARD GARD:0009728 one_to_one MONDO:0011266 myotonic dystrophy type 2 ICD10 ICD10:G71.1,ICD10:G71.19 inexact MONDO:0011266 myotonic dystrophy type 2 ICD9 ICD9:359.2 inexact -MONDO:0011266 myotonic dystrophy type 2 MONDO MONDO:0015906,MONDO:0016107,MONDO:0020169,MONDO:0020259 subclass +MONDO:0011266 myotonic dystrophy type 2 MONDO MONDO:0002320,MONDO:0015906,MONDO:0016107,MONDO:0020169,MONDO:0020259 subclass MONDO:0011266 myotonic dystrophy type 2 NCIT NCIT:C84680 one_to_one MONDO:0011266 myotonic dystrophy type 2 OMIM OMIM:602668 one_to_one MONDO:0011266 myotonic dystrophy type 2 Orphanet Orphanet:606 one_to_one @@ -68184,11 +68348,9 @@ MONDO:0011275 acromesomelic dysplasia, Maroteaux type Orphanet Orphanet:40 one_t MONDO:0011275 acromesomelic dysplasia, Maroteaux type SCTID SCTID:718559000 one_to_one MONDO:0011275 acromesomelic dysplasia, Maroteaux type http http://identifiers.org/hgnc/7944 disease_has_basis_in_dysfunction_of MONDO:0011276 OFC2 MESH MESH:C566419 one_to_one -MONDO:0011276 OFC2 MONDO MONDO:0015420,MONDO:0016043,MONDO:0016044 subclass +MONDO:0011276 OFC2 MONDO MONDO:0000358 subclass MONDO:0011276 OFC2 OMIM OMIM:602966 one_to_one MONDO:0011276 OFC2 UMLS UMLS:C1864323 one_to_one -MONDO:0011277 Leukoregulin MONDO MONDO:0003847 subclass -MONDO:0011277 Leukoregulin OMIM OMIM:602994 one_to_one MONDO:0011278 bile duct cysts GARD GARD:0009229 one_to_one MONDO:0011278 bile duct cysts ICD9 ICD9:576.8 inexact MONDO:0011278 bile duct cysts MONDO MONDO:0003847 subclass @@ -68232,7 +68394,7 @@ MONDO:0011284 astigmatism (disease) SCTID SCTID:82649003 one_to_one MONDO:0011284 astigmatism (disease) UMLS UMLS:C0004106 one_to_one MONDO:0011285 age related macular degeneration 1 DOID DOID:0110014 one_to_one MONDO:0011285 age related macular degeneration 1 MESH MESH:C566411 one_to_one -MONDO:0011285 age related macular degeneration 1 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0011285 age related macular degeneration 1 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0011285 age related macular degeneration 1 OMIM OMIM:603075 one_to_one MONDO:0011285 age related macular degeneration 1 UMLS UMLS:C1864205 one_to_one MONDO:0011285 age related macular degeneration 1 http http://identifiers.org/hgnc/14335,http://identifiers.org/hgnc/16980,http://identifiers.org/hgnc/19194,http://identifiers.org/hgnc/4888,http://identifiers.org/hgnc/613 disease_has_basis_in_dysfunction_of @@ -68309,7 +68471,7 @@ MONDO:0011299 Huntington disease-like 1 Orphanet Orphanet:157941 one_to_one MONDO:0011299 Huntington disease-like 1 UMLS UMLS:C1864112 one_to_one MONDO:0011299 Huntington disease-like 1 http http://identifiers.org/hgnc/9449 disease_has_basis_in_dysfunction_of MONDO:0011300 MYP3 MESH MESH:C566397 one_to_one -MONDO:0011300 MYP3 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0011300 MYP3 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0011300 MYP3 OMIM OMIM:603221 one_to_one MONDO:0011300 MYP3 UMLS UMLS:C1864111 one_to_one MONDO:0011301 pseudohypoparathyroidism type 1B DOID DOID:0080222 one_to_one @@ -68378,7 +68540,7 @@ MONDO:0011309 familial gestational hyperthyroidism http http://identifiers.org/h MONDO:0011310 long chain fatty acids, defect 1N transport of MONDO MONDO:0003847 subclass MONDO:0011310 long chain fatty acids, defect 1N transport of OMIM OMIM:603376 one_to_one MONDO:0011311 glaucoma 1, open angle, f MESH MESH:C566383 one_to_one -MONDO:0011311 glaucoma 1, open angle, f MONDO MONDO:0005338,MONDO:0018174 subclass +MONDO:0011311 glaucoma 1, open angle, f MONDO MONDO:0005338,MONDO:0020366 subclass MONDO:0011311 glaucoma 1, open angle, f OMIM OMIM:603383 one_to_one MONDO:0011311 glaucoma 1, open angle, f http http://identifiers.org/hgnc/17185 disease_has_basis_in_dysfunction_of MONDO:0011312 thyroid carcinoma, nonmedullary, with or without cell oxyphilia GARD GARD:0008488 one_to_one @@ -68791,7 +68953,7 @@ MONDO:0011382 sickle cell anemia GARD GARD:0008614 one_to_one MONDO:0011382 sickle cell anemia ICD10 ICD10:D57,ICD10:D57.0,ICD10:D57.1,ICD10:D57.2,ICD10:D57.20 inexact MONDO:0011382 sickle cell anemia ICD9 ICD9:282.6,ICD9:282.60,ICD9:282.63 inexact MONDO:0011382 sickle cell anemia MESH MESH:D000755 one_to_one -MONDO:0011382 sickle cell anemia MONDO MONDO:0006025,MONDO:0015890,MONDO:0017146,MONDO:0018377,MONDO:0018792,MONDO:0019747 subclass +MONDO:0011382 sickle cell anemia MONDO MONDO:0002320,MONDO:0006025,MONDO:0015890,MONDO:0017146,MONDO:0018377,MONDO:0018792,MONDO:0019747 subclass MONDO:0011382 sickle cell anemia MedDRA MedDRA:10040641 one_to_one MONDO:0011382 sickle cell anemia NCIT NCIT:C34383 one_to_one MONDO:0011382 sickle cell anemia OMIM OMIM:603903 one_to_one @@ -68818,7 +68980,7 @@ MONDO:0011385 intervertebral disc degenerative disorder NCIT NCIT:C26983 one_to_ MONDO:0011385 intervertebral disc degenerative disorder SCTID SCTID:77547008 one_to_one MONDO:0011385 intervertebral disc degenerative disorder UBERON UBERON:0001066 disease_has_location MONDO:0011385 intervertebral disc degenerative disorder UMLS UMLS:C0158266 one_to_one -MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 MONDO MONDO:0000065,MONDO:0005266,MONDO:0015107,MONDO:0016517,MONDO:0019052 subclass +MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 MONDO MONDO:0000065,MONDO:0002320,MONDO:0005266,MONDO:0015107,MONDO:0016517,MONDO:0019052 subclass MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 OMIM OMIM:603933 one_to_one MONDO:0011386 microvascular complications of diabetes, susceptibility to, 1 http http://identifiers.org/hgnc/12680 disease_has_basis_in_dysfunction_of MONDO:0011387 PSORS4 MONDO MONDO:0005083,MONDO:0024255 subclass @@ -69019,7 +69181,7 @@ MONDO:0011417 hemochromatosis type 3 Orphanet Orphanet:225123 one_to_one MONDO:0011417 hemochromatosis type 3 SCTID SCTID:719974003 one_to_one MONDO:0011417 hemochromatosis type 3 UMLS UMLS:C1858664 one_to_one MONDO:0011417 hemochromatosis type 3 http http://identifiers.org/hgnc/11762 disease_has_basis_in_dysfunction_of -MONDO:0011418 DYX3 MONDO MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass +MONDO:0011418 DYX3 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass MONDO:0011418 DYX3 OMIM OMIM:604254 one_to_one MONDO:0011419 camera-Marugo-Cohen syndrome GARD GARD:0008413 one_to_one MONDO:0011419 camera-Marugo-Cohen syndrome MESH MESH:C537964 one_to_one @@ -69074,7 +69236,7 @@ MONDO:0011426 aceruloplasminemia GARD GARD:0009499 one_to_one MONDO:0011426 aceruloplasminemia HP HP:0002344 disease_has_feature MONDO:0011426 aceruloplasminemia ICD10 ICD10:G23.0 inexact MONDO:0011426 aceruloplasminemia ICD9 ICD9:277.6 inexact -MONDO:0011426 aceruloplasminemia MONDO MONDO:0004589,MONDO:0004884,MONDO:0017763,MONDO:0018307,MONDO:0020098,MONDO:0020281,MONDO:0024237 subclass +MONDO:0011426 aceruloplasminemia MONDO MONDO:0004884,MONDO:0017763,MONDO:0018307,MONDO:0019118,MONDO:0020098,MONDO:0020281,MONDO:0024237 subclass MONDO:0011426 aceruloplasminemia OMIM OMIM:604290 one_to_one MONDO:0011426 aceruloplasminemia Orphanet Orphanet:48818 one_to_one MONDO:0011426 aceruloplasminemia SCTID SCTID:124224004 one_to_one @@ -69290,7 +69452,7 @@ MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 MONDO MONDO:0016342 s MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 OMIM OMIM:604401 one_to_one MONDO:0011460 arrhythmogenic right ventricular dysplasia 6 UMLS UMLS:C1858378 one_to_one MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 MESH MESH:C565810 one_to_one -MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 MONDO MONDO:0000032,MONDO:0018214 subclass +MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 MONDO MONDO:0000032,MONDO:0002320,MONDO:0018214 subclass MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 OMIM OMIM:604403 one_to_one MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 UMLS UMLS:C1858673 one_to_one MONDO:0011461 generalized epilepsy with febrile seizures plus, type 2 http http://identifiers.org/hgnc/10585 disease_has_basis_in_dysfunction_of @@ -69365,7 +69527,7 @@ MONDO:0011471 inflammatory bowel disease 3 UMLS UMLS:C1858303 one_to_one MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency GARD GARD:0009705 one_to_one MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency ICD10 ICD10:Q81.0 inexact MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency MESH MESH:C536183 one_to_one -MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency MONDO MONDO:0015550,MONDO:0016997,MONDO:0019287 subclass +MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency MONDO MONDO:0002320,MONDO:0015550,MONDO:0016997,MONDO:0019287 subclass MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency OMIM OMIM:604536 one_to_one MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency Orphanet Orphanet:158668 one_to_one MONDO:0011472 epidermolysis bullosa simplex due to plakophilin deficiency SCTID SCTID:716699004 one_to_one @@ -69499,7 +69661,7 @@ MONDO:0011490 diffuse panbronchiolitis OMIM OMIM:604809 one_to_one MONDO:0011490 diffuse panbronchiolitis Orphanet Orphanet:171700 one_to_one MONDO:0011490 diffuse panbronchiolitis SCTID SCTID:430476004 one_to_one MONDO:0011490 diffuse panbronchiolitis UMLS UMLS:C0878555 one_to_one -MONDO:0011491 EIG7 MONDO MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass +MONDO:0011491 EIG7 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass MONDO:0011491 EIG7 OMIM OMIM:604827 one_to_one MONDO:0011492 mandibulofacial dysostosis syndrome, Bauru type MESH MESH:C565744 one_to_one MONDO:0011492 mandibulofacial dysostosis syndrome, Bauru type MONDO MONDO:0003847 subclass @@ -69542,7 +69704,7 @@ MONDO:0011498 schizophrenia 9 UMLS UMLS:C1858050 one_to_one MONDO:0011499 Okamoto syndrome GARD GARD:0004064 one_to_one MONDO:0011499 Okamoto syndrome ICD10 ICD10:Q87.8 inexact MONDO:0011499 Okamoto syndrome MESH MESH:C565736 one_to_one -MONDO:0011499 Okamoto syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0011499 Okamoto syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0011499 Okamoto syndrome OMIM OMIM:604916 one_to_one MONDO:0011499 Okamoto syndrome Orphanet Orphanet:2729 one_to_one MONDO:0011499 Okamoto syndrome SCTID SCTID:722065002 one_to_one @@ -69569,7 +69731,7 @@ MONDO:0011502 Wolfram syndrome 2 OMIM OMIM:604928 one_to_one MONDO:0011502 Wolfram syndrome 2 UMLS UMLS:C1858028 one_to_one MONDO:0011502 Wolfram syndrome 2 http http://identifiers.org/hgnc/24212 disease_has_basis_in_dysfunction_of MONDO:0011503 cortisone reductase deficiency 1 DOID DOID:0090141 one_to_one -MONDO:0011503 cortisone reductase deficiency 1 MONDO MONDO:0000193,MONDO:0015123,MONDO:0015676 subclass +MONDO:0011503 cortisone reductase deficiency 1 MONDO MONDO:0000193,MONDO:0015123 subclass MONDO:0011503 cortisone reductase deficiency 1 NCIT NCIT:C131849 one_to_one MONDO:0011503 cortisone reductase deficiency 1 OMIM OMIM:604931 one_to_one MONDO:0011503 cortisone reductase deficiency 1 UMLS UMLS:C3551716 one_to_one @@ -69607,7 +69769,7 @@ MONDO:0011509 low density lipoprotein cholesterol, mild elevation of OMIM OMIM:6 MONDO:0011510 Bohring-Opitz syndrome GARD GARD:0010140 one_to_one MONDO:0011510 Bohring-Opitz syndrome ICD10 ICD10:Q87.8 inexact MONDO:0011510 Bohring-Opitz syndrome MESH MESH:C537419 one_to_one -MONDO:0011510 Bohring-Opitz syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0011510 Bohring-Opitz syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0011510 Bohring-Opitz syndrome NCIT NCIT:C131533 one_to_one MONDO:0011510 Bohring-Opitz syndrome OMIM OMIM:605039 one_to_one MONDO:0011510 Bohring-Opitz syndrome Orphanet Orphanet:97297 one_to_one @@ -69655,7 +69817,7 @@ MONDO:0011517 Pseudohyperaldosteronism type 2 http http://identifiers.org/hgnc/7 MONDO:0011518 Wiedemann-Steiner syndrome GARD GARD:0005565 one_to_one MONDO:0011518 Wiedemann-Steiner syndrome ICD10 ICD10:Q87.1 inexact MONDO:0011518 Wiedemann-Steiner syndrome MESH MESH:C536704 one_to_one -MONDO:0011518 Wiedemann-Steiner syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0011518 Wiedemann-Steiner syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0011518 Wiedemann-Steiner syndrome OMIM OMIM:605130 one_to_one MONDO:0011518 Wiedemann-Steiner syndrome Orphanet Orphanet:319182 one_to_one MONDO:0011518 Wiedemann-Steiner syndrome http http://identifiers.org/hgnc/7132 disease_has_basis_in_dysfunction_of @@ -70024,15 +70186,15 @@ MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasi MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia Orphanet Orphanet:97290 one_to_one MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia SCTID SCTID:717734005 one_to_one MONDO:0011578 familial papillary thyroid carcinoma with renal papillary neoplasia UMLS UMLS:C1854104 one_to_one -MONDO:0011579 late-onset retinal degenration DOID DOID:0060869 one_to_one -MONDO:0011579 late-onset retinal degenration GARD GARD:0004357 one_to_one -MONDO:0011579 late-onset retinal degenration MESH MESH:C565309 one_to_one -MONDO:0011579 late-onset retinal degenration MONDO MONDO:0019118 subclass -MONDO:0011579 late-onset retinal degenration OMIM OMIM:605670 one_to_one -MONDO:0011579 late-onset retinal degenration Orphanet Orphanet:67042 one_to_one -MONDO:0011579 late-onset retinal degenration SCTID SCTID:719431007 one_to_one -MONDO:0011579 late-onset retinal degenration UMLS UMLS:C1854065 one_to_one -MONDO:0011579 late-onset retinal degenration http http://identifiers.org/hgnc/14344 disease_has_basis_in_dysfunction_of +MONDO:0011579 late-onset retinal degeneration DOID DOID:0060869 one_to_one +MONDO:0011579 late-onset retinal degeneration GARD GARD:0004357 one_to_one +MONDO:0011579 late-onset retinal degeneration MESH MESH:C565309 one_to_one +MONDO:0011579 late-onset retinal degeneration MONDO MONDO:0019118 subclass +MONDO:0011579 late-onset retinal degeneration OMIM OMIM:605670 one_to_one +MONDO:0011579 late-onset retinal degeneration Orphanet Orphanet:67042 one_to_one +MONDO:0011579 late-onset retinal degeneration SCTID SCTID:719431007 one_to_one +MONDO:0011579 late-onset retinal degeneration UMLS UMLS:C1854065 one_to_one +MONDO:0011579 late-onset retinal degeneration http http://identifiers.org/hgnc/14344 disease_has_basis_in_dysfunction_of MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism MESH MESH:C565308 one_to_one MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism MONDO MONDO:0008935 subclass MONDO:0011580 cerebellar ataxia and hypergonadotropic hypogonadism OMIM OMIM:605672 one_to_one @@ -70173,7 +70335,7 @@ MONDO:0011603 GNE myopathy OMIM OMIM:605820 one_to_one MONDO:0011603 GNE myopathy Orphanet Orphanet:602 one_to_one MONDO:0011603 GNE myopathy http http://identifiers.org/hgnc/23657 disease_has_basis_in_dysfunction_of MONDO:0011604 spondylo-ocular syndrome ICD10 ICD10:Q87.5 inexact -MONDO:0011604 spondylo-ocular syndrome MONDO MONDO:0015960,MONDO:0019704,MONDO:0020225,MONDO:0020247 subclass +MONDO:0011604 spondylo-ocular syndrome MONDO MONDO:0015958,MONDO:0015960,MONDO:0019704,MONDO:0020225,MONDO:0020247 subclass MONDO:0011604 spondylo-ocular syndrome OMIM OMIM:605822 one_to_one MONDO:0011604 spondylo-ocular syndrome Orphanet Orphanet:85194 one_to_one MONDO:0011604 spondylo-ocular syndrome SCTID SCTID:715653007 one_to_one @@ -70399,7 +70561,7 @@ MONDO:0011640 Genitopatellar syndrome GARD GARD:0010994 one_to_one MONDO:0011640 Genitopatellar syndrome ICD10 ICD10:Q87.8 inexact MONDO:0011640 Genitopatellar syndrome ICD9 ICD9:759.89 inexact MONDO:0011640 Genitopatellar syndrome MESH MESH:C565255 one_to_one -MONDO:0011640 Genitopatellar syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019712,MONDO:0043005 subclass +MONDO:0011640 Genitopatellar syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019712,MONDO:0043005 subclass MONDO:0011640 Genitopatellar syndrome OMIM OMIM:606170 one_to_one MONDO:0011640 Genitopatellar syndrome Orphanet Orphanet:85201 one_to_one MONDO:0011640 Genitopatellar syndrome SCTID SCTID:702367005 one_to_one @@ -70473,7 +70635,7 @@ MONDO:0011652 monosomy 22q13 GARD GARD:0010130 one_to_one MONDO:0011652 monosomy 22q13 ICD10 ICD10:Q93.5 inexact MONDO:0011652 monosomy 22q13 ICD9 ICD9:758.39 inexact MONDO:0011652 monosomy 22q13 MESH MESH:C536801 one_to_one -MONDO:0011652 monosomy 22q13 MONDO MONDO:0015983,MONDO:0016920 subclass +MONDO:0011652 monosomy 22q13 MONDO MONDO:0002320,MONDO:0015983,MONDO:0016920 subclass MONDO:0011652 monosomy 22q13 OMIM OMIM:606232 one_to_one MONDO:0011652 monosomy 22q13 Orphanet Orphanet:48652 one_to_one MONDO:0011652 monosomy 22q13 SCTID SCTID:699310000 one_to_one @@ -70720,7 +70882,7 @@ MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 MONDO MONDO:0000172 MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 OMIM OMIM:606612 one_to_one MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 UMLS UMLS:C1847759 one_to_one MONDO:0011688 muscular dystrophy-dystroglycanopathy type B5 http http://identifiers.org/hgnc/17997 disease_has_basis_in_dysfunction_of -MONDO:0011689 DYX6 MONDO MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass +MONDO:0011689 DYX6 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass MONDO:0011689 DYX6 OMIM OMIM:606616 one_to_one MONDO:0011690 Camurati-Engelmann disease, type 2 GARD GARD:0008748 one_to_one MONDO:0011690 Camurati-Engelmann disease, type 2 MESH MESH:C537978 one_to_one @@ -70761,7 +70923,7 @@ MONDO:0011697 Waardenburg syndrome type 2C UMLS UMLS:C1847722 one_to_one MONDO:0011698 glycine N-methyltransferase deficiency DOID DOID:0111037 one_to_one MONDO:0011698 glycine N-methyltransferase deficiency GARD GARD:0010764 one_to_one MONDO:0011698 glycine N-methyltransferase deficiency ICD10 ICD10:E72.1 inexact -MONDO:0011698 glycine N-methyltransferase deficiency MONDO MONDO:0000351,MONDO:0019222 subclass +MONDO:0011698 glycine N-methyltransferase deficiency MONDO MONDO:0000351 subclass MONDO:0011698 glycine N-methyltransferase deficiency OMIM OMIM:606664 one_to_one MONDO:0011698 glycine N-methyltransferase deficiency Orphanet Orphanet:289891 one_to_one MONDO:0011698 glycine N-methyltransferase deficiency UMLS UMLS:C1847720 one_to_one @@ -70793,7 +70955,7 @@ MONDO:0011703 spongiform encephalopathy with neuropsychiatric features MONDO MON MONDO:0011703 spongiform encephalopathy with neuropsychiatric features OMIM OMIM:606688 one_to_one MONDO:0011703 spongiform encephalopathy with neuropsychiatric features UMLS UMLS:C1847650 one_to_one MONDO:0011703 spongiform encephalopathy with neuropsychiatric features http http://identifiers.org/hgnc/9449 disease_has_basis_in_dysfunction_of -MONDO:0011704 GLC1B MONDO MONDO:0005338,MONDO:0018174 subclass +MONDO:0011704 GLC1B MONDO MONDO:0005338,MONDO:0020366 subclass MONDO:0011704 GLC1B OMIM OMIM:606689 one_to_one MONDO:0011705 lymphangioleiomyomatosis ICD10 ICD10:J84.81 one_to_one MONDO:0011705 lymphangioleiomyomatosis ICDO ICDO:9174/1 one_to_one @@ -70829,10 +70991,10 @@ MONDO:0011709 split hand-foot malformation 5 MONDO MONDO:0016576 subclass MONDO:0011709 split hand-foot malformation 5 NCIT NCIT:C75002 one_to_one MONDO:0011709 split hand-foot malformation 5 OMIM OMIM:606708 one_to_one MONDO:0011709 split hand-foot malformation 5 UMLS UMLS:C1847622 one_to_one -MONDO:0011710 SLI1 MONDO MONDO:0000724,MONDO:0003847,MONDO:0019117 subclass +MONDO:0011710 SLI1 MONDO MONDO:0000724,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0011710 SLI1 OMIM OMIM:606711 one_to_one MONDO:0011710 SLI1 UMLS UMLS:C1847614 one_to_one -MONDO:0011711 SLI2 MONDO MONDO:0000724,MONDO:0003847,MONDO:0019117 subclass +MONDO:0011711 SLI2 MONDO MONDO:0000724,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0011711 SLI2 OMIM OMIM:606712 one_to_one MONDO:0011711 SLI2 UMLS UMLS:C1847605 one_to_one MONDO:0011712 van der Woude syndrome 2 GARD GARD:0007846 one_to_one @@ -70908,7 +71070,7 @@ MONDO:0011721 distal myopathy with anterior tibial onset UMLS UMLS:C1847532 one_ MONDO:0011721 distal myopathy with anterior tibial onset http http://identifiers.org/hgnc/3097 disease_has_basis_in_dysfunction_of MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome ICD10 ICD10:Q87.8 inexact MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MESH MESH:C564660 one_to_one -MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016565 subclass +MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016565 subclass MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome OMIM OMIM:606772 one_to_one MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome Orphanet Orphanet:397973 one_to_one MONDO:0011722 intellectual disability-obesity-prognathism-eye and skin anomalies syndrome UMLS UMLS:C1847522 one_to_one @@ -71059,7 +71221,7 @@ MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and n MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch MONDO MONDO:0003847 subclass MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch OMIM OMIM:606895 one_to_one MONDO:0011746 symphalangism, distal, with microdontia, dental pulp stones, and narrowed zygomatic arch UMLS UMLS:C1847185 one_to_one -MONDO:0011747 DYX5 MONDO MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass +MONDO:0011747 DYX5 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass MONDO:0011747 DYX5 OMIM OMIM:606896 one_to_one MONDO:0011748 Usher syndrome type 1G DOID DOID:0110834 one_to_one MONDO:0011748 Usher syndrome type 1G ICD10 ICD10:H35.5 inexact @@ -71086,7 +71248,7 @@ MONDO:0011752 nephronophthisis 4 OMIM OMIM:606966 one_to_one MONDO:0011752 nephronophthisis 4 SCTID SCTID:446989009 one_to_one MONDO:0011752 nephronophthisis 4 UMLS UMLS:C1847013,UMLS:C2959367 inexact MONDO:0011752 nephronophthisis 4 http http://identifiers.org/hgnc/19104 disease_has_basis_in_dysfunction_of -MONDO:0011753 EIG2 MONDO MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass +MONDO:0011753 EIG2 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass MONDO:0011753 EIG2 OMIM OMIM:606972 one_to_one MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 ICD10 ICD10:E27.4 inexact MONDO:0011754 familial hyperreninemic hypoaldosteronism type 2 MESH MESH:C564638 one_to_one @@ -71256,7 +71418,7 @@ MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities MESH MESH:C MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities MONDO MONDO:0003847 subclass MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities OMIM OMIM:607132 one_to_one MONDO:0011779 laryngeal atresia, encephalocele, and limb deformities UMLS UMLS:C1846721 one_to_one -MONDO:0011780 SLI3 MONDO MONDO:0000724,MONDO:0003847,MONDO:0019117 subclass +MONDO:0011780 SLI3 MONDO MONDO:0000724,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0011780 SLI3 OMIM OMIM:607134 one_to_one MONDO:0011780 SLI3 UMLS UMLS:C1846719 one_to_one MONDO:0011781 spinocerebellar ataxia type 17 DOID DOID:0050967 one_to_one @@ -71272,7 +71434,7 @@ MONDO:0011781 spinocerebellar ataxia type 17 http http://identifiers.org/hgnc/11 MONDO:0011782 angioid streaks DOID DOID:13401 one_to_one MONDO:0011782 angioid streaks EFO EFO:1000805 one_to_one MONDO:0011782 angioid streaks MESH MESH:D000793 one_to_one -MONDO:0011782 angioid streaks MONDO MONDO:0003847,MONDO:0005283,MONDO:0015107 subclass +MONDO:0011782 angioid streaks MONDO MONDO:0002320,MONDO:0003847,MONDO:0005283,MONDO:0015107 subclass MONDO:0011782 angioid streaks MedDRA MedDRA:10066191 one_to_one MONDO:0011782 angioid streaks OMIM OMIM:607140 one_to_one MONDO:0011782 angioid streaks UMLS UMLS:C0002982 one_to_one @@ -71332,7 +71494,7 @@ MONDO:0011788 cloverleaf skull-multiple congenital anomalies syndrome UMLS UMLS: MONDO:0011789 familial meningioma DOID DOID:4586 one_to_one MONDO:0011789 familial meningioma MESH MESH:C537443 one_to_one MONDO:0011789 familial meningioma MONDO MONDO:0021152 has_modifier -MONDO:0011789 familial meningioma MONDO MONDO:0016642,MONDO:0016995,MONDO:0019041,MONDO:0019117 subclass +MONDO:0011789 familial meningioma MONDO MONDO:0002320,MONDO:0016642,MONDO:0016995,MONDO:0019041,MONDO:0019117 subclass MONDO:0011789 familial meningioma NCIT NCIT:C54062 has_finding MONDO:0011789 familial meningioma NCIT NCIT:C5301 one_to_one MONDO:0011789 familial meningioma OMIM OMIM:607174 one_to_one @@ -71417,7 +71579,7 @@ MONDO:0011802 hypercalciuria, absorptive, 1 UMLS UMLS:C1846573 one_to_one MONDO:0011803 hereditary spastic paraplegia 7 DOID DOID:0110816 one_to_one MONDO:0011803 hereditary spastic paraplegia 7 GARD GARD:0004927 one_to_one MONDO:0011803 hereditary spastic paraplegia 7 ICD10 ICD10:G11.4 inexact -MONDO:0011803 hereditary spastic paraplegia 7 MONDO MONDO:0000557,MONDO:0004884,MONDO:0015150,MONDO:0015957,MONDO:0015960,MONDO:0017915,MONDO:0018157,MONDO:0018609,MONDO:0019064,MONDO:0022687,MONDO:0024237 subclass +MONDO:0011803 hereditary spastic paraplegia 7 MONDO MONDO:0000557,MONDO:0001835,MONDO:0004884,MONDO:0015150,MONDO:0015957,MONDO:0015960,MONDO:0017915,MONDO:0018157,MONDO:0018609,MONDO:0019064,MONDO:0022687,MONDO:0024237 subclass MONDO:0011803 hereditary spastic paraplegia 7 OMIM OMIM:607259 one_to_one MONDO:0011803 hereditary spastic paraplegia 7 Orphanet Orphanet:99013 one_to_one MONDO:0011803 hereditary spastic paraplegia 7 SCTID SCTID:715776003 one_to_one @@ -71475,7 +71637,7 @@ MONDO:0011812 Duane-radial ray syndrome DOID DOID:0060747 one_to_one MONDO:0011812 Duane-radial ray syndrome GARD GARD:0009182 one_to_one MONDO:0011812 Duane-radial ray syndrome ICD10 ICD10:Q87.8 inexact MONDO:0011812 Duane-radial ray syndrome ICD9 ICD9:759.89 inexact -MONDO:0011812 Duane-radial ray syndrome MONDO MONDO:0000426,MONDO:0015246,MONDO:0017432,MONDO:0018455,MONDO:0020253 subclass +MONDO:0011812 Duane-radial ray syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015246,MONDO:0017432,MONDO:0018455,MONDO:0020253 subclass MONDO:0011812 Duane-radial ray syndrome OMIM OMIM:607323 one_to_one MONDO:0011812 Duane-radial ray syndrome Orphanet Orphanet:93293 one_to_one MONDO:0011812 Duane-radial ray syndrome SCTID SCTID:699867001 one_to_one @@ -71661,7 +71823,7 @@ MONDO:0011841 biotin-responsive basal ganglia disease GARD GARD:0010237 one_to_o MONDO:0011841 biotin-responsive basal ganglia disease ICD10 ICD10:G25.8 inexact MONDO:0011841 biotin-responsive basal ganglia disease ICD9 ICD9:333.99 inexact MONDO:0011841 biotin-responsive basal ganglia disease MESH MESH:C537658 one_to_one -MONDO:0011841 biotin-responsive basal ganglia disease MONDO MONDO:0000152,MONDO:0003996,MONDO:0019058 subclass +MONDO:0011841 biotin-responsive basal ganglia disease MONDO MONDO:0000152,MONDO:0002320,MONDO:0003996,MONDO:0019058 subclass MONDO:0011841 biotin-responsive basal ganglia disease OMIM OMIM:607483 one_to_one MONDO:0011841 biotin-responsive basal ganglia disease Orphanet Orphanet:65284 one_to_one MONDO:0011841 biotin-responsive basal ganglia disease SCTID SCTID:703522009 one_to_one @@ -71832,7 +71994,7 @@ MONDO:0011871 Niemann-Pick disease type B DOID DOID:0070112 one_to_one MONDO:0011871 Niemann-Pick disease type B GARD GARD:0010729 one_to_one MONDO:0011871 Niemann-Pick disease type B ICD10 ICD10:E75.2,ICD10:E75.241 inexact MONDO:0011871 Niemann-Pick disease type B MESH MESH:D052537 one_to_one -MONDO:0011871 Niemann-Pick disease type B MONDO MONDO:0001982,MONDO:0015123,MONDO:0015510,MONDO:0015984,MONDO:0016133,MONDO:0017024 subclass +MONDO:0011871 Niemann-Pick disease type B MONDO MONDO:0001982,MONDO:0002320,MONDO:0015123,MONDO:0015510,MONDO:0015984,MONDO:0016133,MONDO:0017024 subclass MONDO:0011871 Niemann-Pick disease type B NCIT NCIT:C126866 one_to_one MONDO:0011871 Niemann-Pick disease type B OMIM OMIM:607616 one_to_one MONDO:0011871 Niemann-Pick disease type B Orphanet Orphanet:77293 one_to_one @@ -72159,7 +72321,7 @@ MONDO:0011916 Charcot-Marie-tooth disease axonal type 2K http http://identifiers MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to MONDO MONDO:0005363 subclass MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to OMIM OMIM:607832 one_to_one MONDO:0011917 focal segmental glomerulosclerosis 3, susceptibility to http http://identifiers.org/hgnc/14258 disease_has_basis_in_dysfunction_of -MONDO:0011918 anxiety MONDO MONDO:0003847,MONDO:0005618,MONDO:0019117 subclass +MONDO:0011918 anxiety MONDO MONDO:0002320,MONDO:0003847,MONDO:0005618,MONDO:0019117 subclass MONDO:0011918 anxiety OMIM OMIM:607834 one_to_one MONDO:0011918 anxiety http http://identifiers.org/hgnc/11050 disease_has_basis_in_dysfunction_of MONDO:0011919 autoimmune disease, susceptibility to, 1 MONDO MONDO:0007179 subclass @@ -72187,7 +72349,7 @@ MONDO:0011922 adult idiopathic neutropenia http http://identifiers.org/hgnc/4237 MONDO:0011923 osteoarthritis susceptibility 3 MONDO MONDO:0005178 subclass MONDO:0011923 osteoarthritis susceptibility 3 OMIM OMIM:607850 one_to_one MONDO:0011923 osteoarthritis susceptibility 3 http http://identifiers.org/hgnc/14872 disease_has_basis_in_dysfunction_of -MONDO:0011924 panic disorder 2 MONDO MONDO:0003847,MONDO:0005383,MONDO:0019117 subclass +MONDO:0011924 panic disorder 2 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005383,MONDO:0019117 subclass MONDO:0011924 panic disorder 2 OMIM OMIM:607853 one_to_one MONDO:0011924 panic disorder 2 UMLS UMLS:C1842922 one_to_one MONDO:0011925 congenital merosin-deficient muscular dystrophy 1A DOID DOID:0110636 one_to_one @@ -72657,7 +72819,7 @@ MONDO:0011997 Hermansky-Pudlak syndrome 2 DOID DOID:0060540 one_to_one MONDO:0011997 Hermansky-Pudlak syndrome 2 GARD GARD:0009435 one_to_one MONDO:0011997 Hermansky-Pudlak syndrome 2 ICD10 ICD10:E70.3 inexact MONDO:0011997 Hermansky-Pudlak syndrome 2 MESH MESH:C537709 one_to_one -MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO MONDO:0004589,MONDO:0018032,MONDO:0018042,MONDO:0019312,MONDO:0020244 subclass +MONDO:0011997 Hermansky-Pudlak syndrome 2 MONDO MONDO:0018032,MONDO:0018042,MONDO:0019312,MONDO:0020244 subclass MONDO:0011997 Hermansky-Pudlak syndrome 2 NCIT NCIT:C150368 one_to_one MONDO:0011997 Hermansky-Pudlak syndrome 2 OMIM OMIM:608233 one_to_one MONDO:0011997 Hermansky-Pudlak syndrome 2 Orphanet Orphanet:183678 one_to_one @@ -72679,7 +72841,7 @@ MONDO:0012000 specific phobia EFO EFO:1001918 one_to_one MONDO:0012000 specific phobia ICD10 ICD10:F40.2 one_to_one MONDO:0012000 specific phobia ICD9 ICD9:300.29 one_to_one MONDO:0012000 specific phobia MESH MESH:C562465 one_to_one -MONDO:0012000 specific phobia MONDO MONDO:0003699,MONDO:0003847,MONDO:0019117 subclass +MONDO:0012000 specific phobia MONDO MONDO:0002320,MONDO:0003699,MONDO:0003847,MONDO:0019117 subclass MONDO:0012000 specific phobia NCIT NCIT:C35284 one_to_one MONDO:0012000 specific phobia OMIM OMIM:608251 one_to_one MONDO:0012000 specific phobia SCTID SCTID:54587008 one_to_one @@ -72817,11 +72979,12 @@ MONDO:0012020 chromosome 22q11.2 microduplication syndrome OMIM OMIM:608363 one_ MONDO:0012020 chromosome 22q11.2 microduplication syndrome Orphanet Orphanet:1727 one_to_one MONDO:0012020 chromosome 22q11.2 microduplication syndrome SCTID SCTID:699311001 one_to_one MONDO:0012020 chromosome 22q11.2 microduplication syndrome UMLS UMLS:C2675369 one_to_one -MONDO:0012021 MYP17 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0012021 MYP17 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0012021 MYP17 OMIM OMIM:608367 one_to_one MONDO:0012021 MYP17 UMLS UMLS:C3888211 one_to_one MONDO:0012022 OFC4 MESH MESH:C564251 one_to_one -MONDO:0012022 OFC4 MONDO MONDO:0015420,MONDO:0016043,MONDO:0016044 subclass +MONDO:0012022 OFC4 MONDO MONDO:0021128 has_modifier +MONDO:0012022 OFC4 MONDO MONDO:0000358 subclass MONDO:0012022 OFC4 OMIM OMIM:608371 one_to_one MONDO:0012022 OFC4 UMLS UMLS:C1842143 one_to_one MONDO:0012023 autosomal dominant nonsyndromic deafness 49 DOID DOID:0110572 one_to_one @@ -72879,7 +73042,7 @@ MONDO:0012033 bradyopsia GARD GARD:0012299 one_to_one MONDO:0012033 bradyopsia ICD10 ICD10:H53.8 inexact MONDO:0012033 bradyopsia ICD9 ICD9:368.8 one_to_one MONDO:0012033 bradyopsia MESH MESH:C564243 one_to_one -MONDO:0012033 bradyopsia MONDO MONDO:0005283,MONDO:0020238 subclass +MONDO:0012033 bradyopsia MONDO MONDO:0020238 subclass MONDO:0012033 bradyopsia OMIM OMIM:608415 one_to_one MONDO:0012033 bradyopsia Orphanet Orphanet:75374 one_to_one MONDO:0012033 bradyopsia SCTID SCTID:711163009 one_to_one @@ -72946,7 +73109,7 @@ MONDO:0012044 corneal dystrophy, lattice type 3A MONDO MONDO:0007380 subclass MONDO:0012044 corneal dystrophy, lattice type 3A OMIM OMIM:608471 one_to_one MONDO:0012044 corneal dystrophy, lattice type 3A UMLS UMLS:C1837974 one_to_one MONDO:0012045 MYP5 MESH MESH:C563922 one_to_one -MONDO:0012045 MYP5 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0012045 MYP5 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0012045 MYP5 OMIM OMIM:608474 one_to_one MONDO:0012045 MYP5 UMLS UMLS:C1837972 one_to_one MONDO:0012046 congenital corneal opacities, cornea guttata, and corectopia MESH MESH:C563921 one_to_one @@ -72958,7 +73121,7 @@ MONDO:0012047 alopecia universalis congenita, 10Y gonadal dysgenesis, and laryng MONDO:0012047 alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia OMIM OMIM:608509 one_to_one MONDO:0012047 alopecia universalis congenita, 10Y gonadal dysgenesis, and laryngomalacia UMLS UMLS:C1837946 one_to_one MONDO:0012048 endogenous depression DOID DOID:1595 one_to_one -MONDO:0012048 endogenous depression MONDO MONDO:0002009,MONDO:0003847,MONDO:0019117 subclass +MONDO:0012048 endogenous depression MONDO MONDO:0002009,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0012048 endogenous depression NCIT NCIT:C34532 one_to_one MONDO:0012048 endogenous depression OMIM OMIM:608516 one_to_one MONDO:0012048 endogenous depression SCTID SCTID:300706003 one_to_one @@ -72970,7 +73133,7 @@ MONDO:0012049 orofaciodigital syndrome VII OMIM OMIM:608518 one_to_one MONDO:0012049 orofaciodigital syndrome VII Orphanet Orphanet:90649 one_to_one MONDO:0012049 orofaciodigital syndrome VII UMLS UMLS:C0796100,UMLS:CN206429 inexact MONDO:0012050 major depressive disorder 1 MESH MESH:C563919 one_to_one -MONDO:0012050 major depressive disorder 1 MONDO MONDO:0002009,MONDO:0003847,MONDO:0019117 subclass +MONDO:0012050 major depressive disorder 1 MONDO MONDO:0002009,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0012050 major depressive disorder 1 OMIM OMIM:608520 one_to_one MONDO:0012050 major depressive disorder 1 UMLS UMLS:C1837929 one_to_one MONDO:0012051 periodontitis, aggressive, 2 MESH MESH:C566946 one_to_one @@ -73127,7 +73290,7 @@ MONDO:0012078 Joubert syndrome 3 NCIT NCIT:C148259 one_to_one MONDO:0012078 Joubert syndrome 3 OMIM OMIM:608629 one_to_one MONDO:0012078 Joubert syndrome 3 UMLS UMLS:C1837713 one_to_one MONDO:0012078 Joubert syndrome 3 http http://identifiers.org/hgnc/21575 disease_has_basis_in_dysfunction_of -MONDO:0012079 ASPG2 MONDO MONDO:0003847,MONDO:0005259,MONDO:0015680 subclass +MONDO:0012079 ASPG2 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005259,MONDO:0015680 subclass MONDO:0012079 ASPG2 OMIM OMIM:608631 one_to_one MONDO:0012079 ASPG2 UMLS UMLS:C1837697 one_to_one MONDO:0012080 neuronopathy, distal hereditary motor, type 2B MESH MESH:C567084 one_to_one @@ -73142,7 +73305,7 @@ MONDO:0012081 15q11q13 microduplication syndrome OMIM OMIM:608636 one_to_one MONDO:0012081 15q11q13 microduplication syndrome Orphanet Orphanet:238446 one_to_one MONDO:0012081 15q11q13 microduplication syndrome SCTID SCTID:719427001 one_to_one MONDO:0012081 15q11q13 microduplication syndrome UMLS UMLS:C2675336,UMLS:C4304726 inexact -MONDO:0012082 ASPG1 MONDO MONDO:0003847,MONDO:0005259,MONDO:0015680 subclass +MONDO:0012082 ASPG1 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005259,MONDO:0015680 subclass MONDO:0012082 ASPG1 OMIM OMIM:608638 one_to_one MONDO:0012082 ASPG1 UMLS UMLS:C1837646 one_to_one MONDO:0012083 autosomal dominant nonsyndromic deafness 28 DOID DOID:0110557 one_to_one @@ -73157,7 +73320,7 @@ MONDO:0012084 aromatic L-amino acid decarboxylase deficiency GARD GARD:0000770,G MONDO:0012084 aromatic L-amino acid decarboxylase deficiency ICD10 ICD10:G24.8 inexact MONDO:0012084 aromatic L-amino acid decarboxylase deficiency ICD9 ICD9:270.8 inexact MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MESH MESH:C537437 one_to_one -MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO MONDO:0017759,MONDO:0019058 subclass +MONDO:0012084 aromatic L-amino acid decarboxylase deficiency MONDO MONDO:0002320,MONDO:0017759,MONDO:0019058 subclass MONDO:0012084 aromatic L-amino acid decarboxylase deficiency NCIT NCIT:C142085 one_to_one MONDO:0012084 aromatic L-amino acid decarboxylase deficiency OMIM OMIM:608643 one_to_one MONDO:0012084 aromatic L-amino acid decarboxylase deficiency Orphanet Orphanet:35708 one_to_one @@ -73229,7 +73392,7 @@ MONDO:0012094 prostate cancer, hereditary, 4 OMIM OMIM:608658 one_to_one MONDO:0012094 prostate cancer, hereditary, 4 UMLS UMLS:C1837593 one_to_one MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome ICD10 ICD10:Q87.0 inexact MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MESH MESH:C563880 one_to_one -MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO MONDO:0015159,MONDO:0015319,MONDO:0015983,MONDO:0018187,MONDO:0019066,MONDO:0043005 subclass +MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015319,MONDO:0015983,MONDO:0018187,MONDO:0019066,MONDO:0043005 subclass MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome OMIM OMIM:608670 one_to_one MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome Orphanet Orphanet:364577 one_to_one MONDO:0012095 intellectual disability-brachydactyly-Pierre Robin syndrome UMLS UMLS:C1837564 one_to_one @@ -73257,13 +73420,13 @@ MONDO:0012098 spinocerebellar ataxia type 20 SCTID SCTID:718771009 one_to_one MONDO:0012098 spinocerebellar ataxia type 20 UMLS UMLS:C1837541 one_to_one MONDO:0012099 AICA-ribosiduria ICD10 ICD10:E79.8 inexact MONDO:0012099 AICA-ribosiduria MESH MESH:C563876 one_to_one -MONDO:0012099 AICA-ribosiduria MONDO MONDO:0004589,MONDO:0015159,MONDO:0015327,MONDO:0015919,MONDO:0019236,MONDO:0020242,MONDO:0043005 subclass +MONDO:0012099 AICA-ribosiduria MONDO MONDO:0015159,MONDO:0015327,MONDO:0015919,MONDO:0019236,MONDO:0020242,MONDO:0043005 subclass MONDO:0012099 AICA-ribosiduria OMIM OMIM:608688 one_to_one MONDO:0012099 AICA-ribosiduria Orphanet Orphanet:250977 one_to_one MONDO:0012099 AICA-ribosiduria UMLS UMLS:C1837530,UMLS:C4510943 inexact MONDO:0012099 AICA-ribosiduria http http://identifiers.org/hgnc/794 disease_has_basis_in_dysfunction_of MONDO:0012100 major depressive disorder 2 MESH MESH:C563875 one_to_one -MONDO:0012100 major depressive disorder 2 MONDO MONDO:0002009,MONDO:0003847,MONDO:0019117 subclass +MONDO:0012100 major depressive disorder 2 MONDO MONDO:0002009,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0012100 major depressive disorder 2 OMIM OMIM:608691 one_to_one MONDO:0012100 major depressive disorder 2 UMLS UMLS:C1837529 one_to_one MONDO:0012101 GLC1J MESH MESH:C563874 one_to_one @@ -73352,7 +73515,7 @@ MONDO:0012112 hypertrophic cardiomyopathy 10 OMIM OMIM:608758 one_to_one MONDO:0012112 hypertrophic cardiomyopathy 10 Orphanet Orphanet:123631 one_to_one MONDO:0012112 hypertrophic cardiomyopathy 10 UMLS UMLS:C1834460 one_to_one MONDO:0012112 hypertrophic cardiomyopathy 10 http http://identifiers.org/hgnc/7583 disease_has_basis_in_dysfunction_of -MONDO:0012113 EIG3 MONDO MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass +MONDO:0012113 EIG3 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass MONDO:0012113 EIG3 OMIM OMIM:608762 one_to_one MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type MESH MESH:C536199 one_to_one MONDO:0012114 Ehlers-Danlos syndrome, Beasley-Cohen type MONDO MONDO:0020066 subclass @@ -73386,7 +73549,7 @@ MONDO:0012118 COG7-CDG OMIM OMIM:608779 one_to_one MONDO:0012118 COG7-CDG Orphanet Orphanet:79333 one_to_one MONDO:0012118 COG7-CDG SCTID SCTID:717773005 one_to_one MONDO:0012118 COG7-CDG http http://identifiers.org/hgnc/18622 disease_has_basis_in_dysfunction_of -MONDO:0012119 ASPG3 MONDO MONDO:0003847,MONDO:0005259,MONDO:0015680 subclass +MONDO:0012119 ASPG3 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005259,MONDO:0015680 subclass MONDO:0012119 ASPG3 OMIM OMIM:608781 one_to_one MONDO:0012119 ASPG3 UMLS UMLS:C1837434 one_to_one MONDO:0012120 pyruvate dehydrogenase phosphatase deficiency GARD GARD:0009888 one_to_one @@ -73486,7 +73649,7 @@ MONDO:0012134 EJM3 MONDO MONDO:0009696 subclass MONDO:0012134 EJM3 OMIM OMIM:608816 one_to_one MONDO:0012134 EJM3 UMLS UMLS:C1837308 one_to_one MONDO:0012135 RLS2 GARD GARD:0009710 one_to_one -MONDO:0012135 RLS2 MONDO MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass +MONDO:0012135 RLS2 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass MONDO:0012135 RLS2 OMIM OMIM:608831 one_to_one MONDO:0012135 RLS2 UMLS UMLS:C1837285 one_to_one MONDO:0012136 carnitine palmitoyl transferase II deficiency, neonatal form ICD10 ICD10:E71.3 inexact @@ -73511,6 +73674,7 @@ MONDO:0012138 muscular dystrophy-dystroglycanopathy type B6 http http://identifi MONDO:0012139 macular dystrophy, retinal, 3 MONDO MONDO:0020242 subclass MONDO:0012139 macular dystrophy, retinal, 3 OMIM OMIM:608850 one_to_one MONDO:0012139 macular dystrophy, retinal, 3 UMLS UMLS:C3888009 one_to_one +MONDO:0012141 orofacial cleft 6, susceptibility to MONDO MONDO:0021128 has_modifier MONDO:0012141 orofacial cleft 6, susceptibility to MONDO MONDO:0000358,MONDO:0016044 subclass MONDO:0012141 orofacial cleft 6, susceptibility to OMIM OMIM:608864 one_to_one MONDO:0012141 orofacial cleft 6, susceptibility to http http://identifiers.org/hgnc/6121 disease_has_basis_in_dysfunction_of @@ -73521,7 +73685,7 @@ MONDO:0012142 orofacial cleft 5 UMLS UMLS:C1837210 one_to_one MONDO:0012142 orofacial cleft 5 http http://identifiers.org/hgnc/7391 disease_has_basis_in_dysfunction_of MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin ICD10 ICD10:D58.8 inexact MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin MESH MESH:C563840 one_to_one -MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin MONDO MONDO:0015983,MONDO:0020102 subclass +MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin MONDO MONDO:0002320,MONDO:0015983,MONDO:0020102 subclass MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin OMIM OMIM:608885 one_to_one MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin Orphanet Orphanet:168577 one_to_one MONDO:0012143 hereditary cryohydrocytosis with reduced stomatin UMLS UMLS:C1837206 one_to_one @@ -73533,7 +73697,7 @@ MONDO:0012144 Waardenburg syndrome type 2D OMIM OMIM:608890 one_to_one MONDO:0012144 Waardenburg syndrome type 2D UMLS UMLS:C1837203 one_to_one MONDO:0012144 Waardenburg syndrome type 2D http http://identifiers.org/hgnc/11094 disease_has_basis_in_dysfunction_of MONDO:0012145 macular degeneration, age-related, 3 MESH MESH:C563838 one_to_one -MONDO:0012145 macular degeneration, age-related, 3 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0012145 macular degeneration, age-related, 3 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0012145 macular degeneration, age-related, 3 OMIM OMIM:608895 one_to_one MONDO:0012145 macular degeneration, age-related, 3 UMLS UMLS:C1837187 one_to_one MONDO:0012145 macular degeneration, age-related, 3 http http://identifiers.org/hgnc/3602 disease_has_basis_in_dysfunction_of @@ -73551,13 +73715,13 @@ MONDO:0012148 drug metabolism, poor, Cyp2D6-related MONDO MONDO:0003847 subclass MONDO:0012148 drug metabolism, poor, Cyp2D6-related OMIM OMIM:608902 one_to_one MONDO:0012148 drug metabolism, poor, Cyp2D6-related UMLS UMLS:C1837154 one_to_one MONDO:0012148 drug metabolism, poor, Cyp2D6-related http http://identifiers.org/hgnc/2625 disease_has_basis_in_dysfunction_of -MONDO:0012149 attention deficit-hyperactivity disorder, susceptibility to, 1 MONDO MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass +MONDO:0012149 attention deficit-hyperactivity disorder, susceptibility to, 1 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass MONDO:0012149 attention deficit-hyperactivity disorder, susceptibility to, 1 OMIM OMIM:608903 one_to_one -MONDO:0012150 attention deficit-hyperactivity disorder, susceptibility to, 2 MONDO MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass +MONDO:0012150 attention deficit-hyperactivity disorder, susceptibility to, 2 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass MONDO:0012150 attention deficit-hyperactivity disorder, susceptibility to, 2 OMIM OMIM:608904 one_to_one -MONDO:0012151 attention deficit-hyperactivity disorder, susceptibility to, 3 MONDO MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass +MONDO:0012151 attention deficit-hyperactivity disorder, susceptibility to, 3 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass MONDO:0012151 attention deficit-hyperactivity disorder, susceptibility to, 3 OMIM OMIM:608905 one_to_one -MONDO:0012152 attention deficit-hyperactivity disorder, susceptibility to, 4 MONDO MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass +MONDO:0012152 attention deficit-hyperactivity disorder, susceptibility to, 4 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass MONDO:0012152 attention deficit-hyperactivity disorder, susceptibility to, 4 OMIM OMIM:608906 one_to_one MONDO:0012153 AD9 MESH MESH:C563834 one_to_one MONDO:0012153 AD9 MONDO MONDO:0015140 subclass @@ -73574,7 +73738,7 @@ MONDO:0012155 choanal atresia DOID DOID:9574 one_to_one MONDO:0012155 choanal atresia ICD10 ICD10:Q30.0 inexact MONDO:0012155 choanal atresia ICD9 ICD9:748.0 one_to_one MONDO:0012155 choanal atresia MESH MESH:D002754 one_to_one -MONDO:0012155 choanal atresia MONDO MONDO:0002232,MONDO:0003847,MONDO:0015503,MONDO:0015510,MONDO:0015960,MONDO:0018751,MONDO:0019117 subclass +MONDO:0012155 choanal atresia MONDO MONDO:0002232,MONDO:0002320,MONDO:0003847,MONDO:0015503,MONDO:0015510,MONDO:0015960,MONDO:0018751,MONDO:0019117 subclass MONDO:0012155 choanal atresia MedDRA MedDRA:10008587 one_to_one MONDO:0012155 choanal atresia OMIM OMIM:608911 one_to_one MONDO:0012155 choanal atresia Orphanet Orphanet:137914 one_to_one @@ -73648,7 +73812,7 @@ MONDO:0012167 ATFB2 MESH MESH:C563903 one_to_one MONDO:0012167 ATFB2 MONDO MONDO:0018054 subclass MONDO:0012167 ATFB2 OMIM OMIM:608988 one_to_one MONDO:0012167 ATFB2 UMLS UMLS:C1837812 one_to_one -MONDO:0012168 DYX8 MONDO MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass +MONDO:0012168 DYX8 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005489,MONDO:0019117 subclass MONDO:0012168 DYX8 OMIM OMIM:608995 one_to_one MONDO:0012169 premature ovarian failure 3 MESH MESH:C563816 one_to_one MONDO:0012169 premature ovarian failure 3 MONDO MONDO:0019852 subclass @@ -73676,7 +73840,7 @@ MONDO:0012172 mitochondrial trifunctional protein deficiency SCTID SCTID:2379990 MONDO:0012172 mitochondrial trifunctional protein deficiency http http://identifiers.org/hgnc/4803 disease_has_basis_in_dysfunction_of MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency GARD GARD:0006867 one_to_one MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency ICD10 ICD10:E71.3 inexact -MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO MONDO:0015895,MONDO:0015905,MONDO:0016133,MONDO:0016328,MONDO:0017715,MONDO:0020281 subclass +MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency MONDO MONDO:0002320,MONDO:0015895,MONDO:0015905,MONDO:0016133,MONDO:0016328,MONDO:0017715,MONDO:0020281 subclass MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency NCIT NCIT:C129929 one_to_one MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency OMIM OMIM:609016 one_to_one MONDO:0012173 long chain 3-hydroxyacyl-CoA dehydrogenase deficiency Orphanet Orphanet:5 one_to_one @@ -74010,19 +74174,19 @@ MONDO:0012226 FEB5 MONDO MONDO:0000032 subclass MONDO:0012226 FEB5 OMIM OMIM:609255 one_to_one MONDO:0012226 FEB5 UMLS UMLS:C1836507 one_to_one MONDO:0012227 MYP7 MESH MESH:C563761 one_to_one -MONDO:0012227 MYP7 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0012227 MYP7 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0012227 MYP7 OMIM OMIM:609256 one_to_one MONDO:0012227 MYP7 UMLS UMLS:C1836506 one_to_one MONDO:0012228 MYP8 MESH MESH:C563760 one_to_one -MONDO:0012228 MYP8 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0012228 MYP8 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0012228 MYP8 OMIM OMIM:609257 one_to_one MONDO:0012228 MYP8 UMLS UMLS:C1836505 one_to_one MONDO:0012229 MYP9 MESH MESH:C563759 one_to_one -MONDO:0012229 MYP9 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0012229 MYP9 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0012229 MYP9 OMIM OMIM:609258 one_to_one MONDO:0012229 MYP9 UMLS UMLS:C1836504 one_to_one MONDO:0012230 MYP10 MESH MESH:C563758 one_to_one -MONDO:0012230 MYP10 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0012230 MYP10 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0012230 MYP10 OMIM OMIM:609259 one_to_one MONDO:0012230 MYP10 UMLS UMLS:C1836503 one_to_one MONDO:0012231 Charcot-Marie-tooth disease type 2A2 DOID DOID:0110155 one_to_one @@ -74035,7 +74199,7 @@ MONDO:0012231 Charcot-Marie-tooth disease type 2A2 Orphanet Orphanet:99947 one_t MONDO:0012231 Charcot-Marie-tooth disease type 2A2 UMLS UMLS:C1836485 one_to_one MONDO:0012231 Charcot-Marie-tooth disease type 2A2 http http://identifiers.org/hgnc/16877 disease_has_basis_in_dysfunction_of MONDO:0012232 STUT2 MESH MESH:C563756 one_to_one -MONDO:0012232 STUT2 MONDO MONDO:0000723,MONDO:0003847,MONDO:0019117 subclass +MONDO:0012232 STUT2 MONDO MONDO:0000723,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0012232 STUT2 OMIM OMIM:609261 one_to_one MONDO:0012232 STUT2 UMLS UMLS:C1836484 one_to_one MONDO:0012233 Li-Fraumeni syndrome 2 MESH MESH:C563755 one_to_one @@ -74321,7 +74485,7 @@ MONDO:0012280 Goldberg-Shprintzen megacolon syndrome DOID DOID:0060481 one_to_on MONDO:0012280 Goldberg-Shprintzen megacolon syndrome GARD GARD:0009849 one_to_one MONDO:0012280 Goldberg-Shprintzen megacolon syndrome ICD10 ICD10:Q87.8 inexact MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MESH MESH:C537279 one_to_one -MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO MONDO:0015159,MONDO:0015184,MONDO:0015246,MONDO:0015335,MONDO:0015983,MONDO:0020169 subclass +MONDO:0012280 Goldberg-Shprintzen megacolon syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015184,MONDO:0015246,MONDO:0015335,MONDO:0015983,MONDO:0020169 subclass MONDO:0012280 Goldberg-Shprintzen megacolon syndrome OMIM OMIM:609460 one_to_one MONDO:0012280 Goldberg-Shprintzen megacolon syndrome Orphanet Orphanet:66629 one_to_one MONDO:0012280 Goldberg-Shprintzen megacolon syndrome SCTID SCTID:717822006 one_to_one @@ -74371,7 +74535,7 @@ MONDO:0012290 CEDNIK syndrome DOID DOID:0060337 one_to_one MONDO:0012290 CEDNIK syndrome GARD GARD:0009940 one_to_one MONDO:0012290 CEDNIK syndrome ICD10 ICD10:Q82.8 inexact MONDO:0012290 CEDNIK syndrome MESH MESH:C537943 one_to_one -MONDO:0012290 CEDNIK syndrome MONDO MONDO:0015983,MONDO:0017273,MONDO:0017666 subclass +MONDO:0012290 CEDNIK syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0017273,MONDO:0017666 subclass MONDO:0012290 CEDNIK syndrome OMIM OMIM:609528 one_to_one MONDO:0012290 CEDNIK syndrome Orphanet Orphanet:66631 one_to_one MONDO:0012290 CEDNIK syndrome SCTID SCTID:722385008 one_to_one @@ -74535,7 +74699,7 @@ MONDO:0012317 visceral neuropathy, familial, autosomal dominant UMLS UMLS:C18649 MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 MONDO MONDO:0004948 subclass MONDO:0012318 leukemia, chronic lymphocytic, susceptibility to, 1 OMIM OMIM:609630 one_to_one MONDO:0012319 MAFD3 MESH MESH:C566501 one_to_one -MONDO:0012319 MAFD3 MONDO MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass +MONDO:0012319 MAFD3 MONDO MONDO:0002320,MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass MONDO:0012319 MAFD3 OMIM OMIM:609633 one_to_one MONDO:0012319 MAFD3 UMLS UMLS:C1864994 one_to_one MONDO:0012320 migraine, familial hemiplegic, 3 MESH MESH:C566500 one_to_one @@ -74648,7 +74812,7 @@ MONDO:0012337 GLC1I MESH MESH:C565724 one_to_one MONDO:0012337 GLC1I MONDO MONDO:0005338,MONDO:0018174 subclass MONDO:0012337 GLC1I OMIM OMIM:609745 one_to_one MONDO:0012337 GLC1I UMLS UMLS:C1857852 one_to_one -MONDO:0012338 EIG4 MONDO MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass +MONDO:0012338 EIG4 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass MONDO:0012338 EIG4 OMIM OMIM:609750 one_to_one MONDO:0012339 celiac disease, susceptibility to, 4 MONDO MONDO:0005130 subclass MONDO:0012339 celiac disease, susceptibility to, 4 OMIM OMIM:609753 one_to_one @@ -74860,7 +75024,7 @@ MONDO:0012376 autosomal recessive nonsyndromic deafness 55 ICD10 ICD10:H90.3 ine MONDO:0012376 autosomal recessive nonsyndromic deafness 55 MESH MESH:C538203 one_to_one MONDO:0012376 autosomal recessive nonsyndromic deafness 55 MONDO MONDO:0019588 subclass MONDO:0012376 autosomal recessive nonsyndromic deafness 55 OMIM OMIM:609952 one_to_one -MONDO:0012377 ASPG4 MONDO MONDO:0003847,MONDO:0005259,MONDO:0015680 subclass +MONDO:0012377 ASPG4 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005259,MONDO:0015680 subclass MONDO:0012377 ASPG4 OMIM OMIM:609954 one_to_one MONDO:0012378 GINGF3 GARD GARD:0009911 one_to_one MONDO:0012378 GINGF3 MESH MESH:C537928 one_to_one @@ -74897,7 +75061,7 @@ MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and a MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency Orphanet Orphanet:75391 one_to_one MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency UMLS UMLS:C1864947 one_to_one MONDO:0012383 primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency http http://identifiers.org/hgnc/6947 disease_has_basis_in_dysfunction_of -MONDO:0012384 panic disorder 3 MONDO MONDO:0003847,MONDO:0005383,MONDO:0019117 subclass +MONDO:0012384 panic disorder 3 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005383,MONDO:0019117 subclass MONDO:0012384 panic disorder 3 OMIM OMIM:609985 one_to_one MONDO:0012384 panic disorder 3 UMLS UMLS:C1864946 one_to_one MONDO:0012385 metaphyseal chondrodysplasia with cone-shaped epiphyses, normal hair, and Normal hands GARD GARD:0009942 one_to_one @@ -74917,11 +75081,11 @@ MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome OMIM MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome Orphanet Orphanet:75325 one_to_one MONDO:0012387 osteosclerosis-ichthyosis-premature ovarian failure syndrome SCTID SCTID:722114007 one_to_one MONDO:0012388 MYP11 MESH MESH:C566490 one_to_one -MONDO:0012388 MYP11 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0012388 MYP11 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0012388 MYP11 OMIM OMIM:609994 one_to_one MONDO:0012388 MYP11 UMLS UMLS:C1864941 one_to_one MONDO:0012389 MYP12 MESH MESH:C566489 one_to_one -MONDO:0012389 MYP12 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0012389 MYP12 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0012389 MYP12 OMIM OMIM:609995 one_to_one MONDO:0012389 MYP12 UMLS UMLS:C1864940 one_to_one MONDO:0012390 arthrogryposis multiplex with deafness, inguinal hernias, and early death GARD GARD:0009946 one_to_one @@ -74947,7 +75111,7 @@ MONDO:0012392 2-methylbutyryl-CoA dehydrogenase deficiency http http://identifie MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency GARD GARD:0009848 one_to_one MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency ICD10 ICD10:E72.8 inexact MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency MESH MESH:C536832 one_to_one -MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency MONDO MONDO:0017352,MONDO:0019058 subclass +MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency MONDO MONDO:0002320,MONDO:0017352,MONDO:0019058 subclass MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency OMIM OMIM:610015 one_to_one MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency Orphanet Orphanet:71278 one_to_one MONDO:0012393 congenital brain dysgenesis due to glutamine synthetase deficiency UMLS UMLS:C1864910 one_to_one @@ -75030,7 +75194,7 @@ MONDO:0012407 pyridoxal phosphate-responsive seizures CHEBI CHEBI:18405 disease_ MONDO:0012407 pyridoxal phosphate-responsive seizures GARD GARD:0010730 one_to_one MONDO:0012407 pyridoxal phosphate-responsive seizures ICD10 ICD10:G40.8 inexact MONDO:0012407 pyridoxal phosphate-responsive seizures MESH MESH:C566449 one_to_one -MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO MONDO:0015955,MONDO:0016404,MONDO:0017760,MONDO:0019058,MONDO:0019237,MONDO:0100033 subclass +MONDO:0012407 pyridoxal phosphate-responsive seizures MONDO MONDO:0002320,MONDO:0015955,MONDO:0016404,MONDO:0017760,MONDO:0019058,MONDO:0019237,MONDO:0100033 subclass MONDO:0012407 pyridoxal phosphate-responsive seizures OMIM OMIM:610090 one_to_one MONDO:0012407 pyridoxal phosphate-responsive seizures Orphanet Orphanet:79096 one_to_one MONDO:0012407 pyridoxal phosphate-responsive seizures UMLS UMLS:C1864723 one_to_one @@ -75111,7 +75275,7 @@ MONDO:0012418 autosomal recessive nonsyndromic deafness 62 OMIM OMIM:610143 one_ MONDO:0012418 autosomal recessive nonsyndromic deafness 62 UMLS UMLS:C1857820 one_to_one MONDO:0012419 age related macular degeneration 7 DOID DOID:0110019 one_to_one MONDO:0012419 age related macular degeneration 7 MESH MESH:C565718 one_to_one -MONDO:0012419 age related macular degeneration 7 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0012419 age related macular degeneration 7 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0012419 age related macular degeneration 7 OMIM OMIM:610149 one_to_one MONDO:0012419 age related macular degeneration 7 Orphanet Orphanet:138706 one_to_one MONDO:0012419 age related macular degeneration 7 UMLS UMLS:C1857813 one_to_one @@ -75330,7 +75494,7 @@ MONDO:0012455 Kleefstra syndrome DOID DOID:0060352 one_to_one MONDO:0012455 Kleefstra syndrome GARD GARD:0008672 one_to_one MONDO:0012455 Kleefstra syndrome ICD10 ICD10:Q87.8 inexact MONDO:0012455 Kleefstra syndrome MESH MESH:C563043 one_to_one -MONDO:0012455 Kleefstra syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0012455 Kleefstra syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0012455 Kleefstra syndrome NCIT NCIT:C129976 one_to_one MONDO:0012455 Kleefstra syndrome OMIMPS OMIMPS:610253 one_to_one MONDO:0012455 Kleefstra syndrome Orphanet Orphanet:261494 one_to_one @@ -75411,7 +75575,7 @@ MONDO:0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa MONDO MO MONDO:0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa OMIM OMIM:610319 one_to_one MONDO:0012468 rhizomelic dysplasia, scoliosis, and retinitis pigmentosa UMLS UMLS:C1853197 one_to_one MONDO:0012469 MYP14 MESH MESH:C565202 one_to_one -MONDO:0012469 MYP14 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0012469 MYP14 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0012469 MYP14 OMIM OMIM:610320 one_to_one MONDO:0012469 MYP14 UMLS UMLS:C1853196 one_to_one MONDO:0012470 HPC7 MESH MESH:C565201 one_to_one @@ -75467,7 +75631,8 @@ MONDO:0012477 retinitis pigmentosa 33 OMIM OMIM:610359 one_to_one MONDO:0012477 retinitis pigmentosa 33 UMLS UMLS:C1835895 one_to_one MONDO:0012477 retinitis pigmentosa 33 http http://identifiers.org/hgnc/30859 disease_has_basis_in_dysfunction_of MONDO:0012478 OFC9 MESH MESH:C563675 one_to_one -MONDO:0012478 OFC9 MONDO MONDO:0015420,MONDO:0016043,MONDO:0016044 subclass +MONDO:0012478 OFC9 MONDO MONDO:0021128 has_modifier +MONDO:0012478 OFC9 MONDO MONDO:0000358 subclass MONDO:0012478 OFC9 OMIM OMIM:610361 one_to_one MONDO:0012478 OFC9 UMLS UMLS:C1835894 one_to_one MONDO:0012479 congenital malabsorptive diarrhea 4 DOID DOID:0060779 one_to_one @@ -75507,7 +75672,7 @@ MONDO:0012483 cone-rod dystrophy 11 UMLS UMLS:C1835865 one_to_one MONDO:0012483 cone-rod dystrophy 11 http http://identifiers.org/hgnc/18286 disease_has_basis_in_dysfunction_of MONDO:0012484 prosopagnosia, hereditary GARD GARD:0010035 one_to_one MONDO:0012484 prosopagnosia, hereditary MONDO MONDO:0021152 has_modifier -MONDO:0012484 prosopagnosia, hereditary MONDO MONDO:0003227,MONDO:0003847,MONDO:0019117 subclass +MONDO:0012484 prosopagnosia, hereditary MONDO MONDO:0002320,MONDO:0003227,MONDO:0003847,MONDO:0019117 subclass MONDO:0012484 prosopagnosia, hereditary OMIM OMIM:610382 one_to_one MONDO:0012484 prosopagnosia, hereditary UMLS UMLS:C2931455 one_to_one MONDO:0012485 autosomal recessive nonsyndromic deafness 68 DOID DOID:0110519 one_to_one @@ -75542,10 +75707,10 @@ MONDO:0012490 cone-rod synaptic disorder, congenital nonprogressive http http:// MONDO:0012491 WM2 MONDO MONDO:0007926 subclass MONDO:0012491 WM2 OMIM OMIM:610430 one_to_one MONDO:0012492 RLS3 GARD GARD:0010270 one_to_one -MONDO:0012492 RLS3 MONDO MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass +MONDO:0012492 RLS3 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass MONDO:0012492 RLS3 OMIM OMIM:610438 one_to_one MONDO:0012493 RLS4 GARD GARD:0010271 one_to_one -MONDO:0012493 RLS4 MONDO MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass +MONDO:0012493 RLS4 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass MONDO:0012493 RLS4 OMIM OMIM:610439 one_to_one MONDO:0012494 testicular microlithiasis (disease) HP HP:0012215 one_to_one MONDO:0012494 testicular microlithiasis (disease) MESH MESH:C566478 one_to_one @@ -75574,7 +75739,7 @@ MONDO:0012496 Koolen de Vries syndrome http http://identifiers.org/hgnc/24565 di MONDO:0012497 congenital stationary night blindness autosomal dominant 3 DOID DOID:0110715 one_to_one MONDO:0012497 congenital stationary night blindness autosomal dominant 3 HP HP:0000006 has_modifier MONDO:0012497 congenital stationary night blindness autosomal dominant 3 MESH MESH:C566475 one_to_one -MONDO:0012497 congenital stationary night blindness autosomal dominant 3 MONDO MONDO:0000426,MONDO:0004587,MONDO:0004589,MONDO:0016293 subclass +MONDO:0012497 congenital stationary night blindness autosomal dominant 3 MONDO MONDO:0000426,MONDO:0016293 subclass MONDO:0012497 congenital stationary night blindness autosomal dominant 3 OMIM OMIM:610444 one_to_one MONDO:0012497 congenital stationary night blindness autosomal dominant 3 UMLS UMLS:C1864870 one_to_one MONDO:0012497 congenital stationary night blindness autosomal dominant 3 http http://identifiers.org/hgnc/4393 disease_has_basis_in_dysfunction_of @@ -75604,8 +75769,9 @@ MONDO:0012502 normophosphatemic familial tumoral calcinosis Orphanet Orphanet:30 MONDO:0012502 normophosphatemic familial tumoral calcinosis http http://identifiers.org/hgnc/1348 disease_has_basis_in_dysfunction_of MONDO:0012503 thiopurine S-methyltransferase deficiency DOID DOID:0080172 one_to_one MONDO:0012503 thiopurine S-methyltransferase deficiency GARD GARD:0005173 one_to_one +MONDO:0012503 thiopurine S-methyltransferase deficiency GO GO:0008119 disease_has_basis_in_disruption_of MONDO:0012503 thiopurine S-methyltransferase deficiency MESH MESH:C536512 one_to_one -MONDO:0012503 thiopurine S-methyltransferase deficiency MONDO MONDO:0000210,MONDO:0019052 subclass +MONDO:0012503 thiopurine S-methyltransferase deficiency MONDO MONDO:0000210,MONDO:0019052,MONDO:0044976 subclass MONDO:0012503 thiopurine S-methyltransferase deficiency OMIM OMIM:610460 one_to_one MONDO:0012503 thiopurine S-methyltransferase deficiency Orphanet Orphanet:3315 one_to_one MONDO:0012503 thiopurine S-methyltransferase deficiency http http://identifiers.org/hgnc/12014 disease_has_basis_in_dysfunction_of @@ -75638,7 +75804,7 @@ MONDO:0012507 retinal cone dystrophy 4 http http://identifiers.org/hgnc/20202 di MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome GARD GARD:0010011 one_to_one MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome ICD10 ICD10:Q87.0 inexact MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MESH MESH:C538055 one_to_one -MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016463,MONDO:0019043,MONDO:0019305,MONDO:0043005 subclass +MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome MONDO MONDO:0001902,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016463,MONDO:0019043,MONDO:0019305,MONDO:0043005 subclass MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome OMIM OMIM:610483 one_to_one MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome Orphanet Orphanet:83617 one_to_one MONDO:0012508 agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome SCTID SCTID:722281001 one_to_one @@ -75694,7 +75860,7 @@ MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome DOID DOID:0080196 MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome GARD GARD:0010056 one_to_one MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome ICD10 ICD10:Q87.0 inexact MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MESH MESH:C537405 one_to_one -MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO MONDO:0000426,MONDO:0015159,MONDO:0015334,MONDO:0015335,MONDO:0015983,MONDO:0018237,MONDO:0043005 subclass +MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015334,MONDO:0015335,MONDO:0015983,MONDO:0018237,MONDO:0043005 subclass MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome OMIM OMIM:610536 one_to_one MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome Orphanet Orphanet:79113 one_to_one MONDO:0012516 mandibulofacial dysostosis-microcephaly syndrome SCTID SCTID:711543008 one_to_one @@ -75846,7 +76012,7 @@ MONDO:0012539 Joubert syndrome 6 UMLS UMLS:C1853153 one_to_one MONDO:0012539 Joubert syndrome 6 http http://identifiers.org/hgnc/28396 disease_has_basis_in_dysfunction_of MONDO:0012540 age related macular degeneration 4 DOID DOID:0110017 one_to_one MONDO:0012540 age related macular degeneration 4 MESH MESH:C565196 one_to_one -MONDO:0012540 age related macular degeneration 4 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0012540 age related macular degeneration 4 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0012540 age related macular degeneration 4 OMIM OMIM:610698 one_to_one MONDO:0012540 age related macular degeneration 4 UMLS UMLS:C1853147 one_to_one MONDO:0012540 age related macular degeneration 4 http http://identifiers.org/hgnc/4883 disease_has_basis_in_dysfunction_of @@ -76039,7 +76205,7 @@ MONDO:0012573 vesicoureteral reflux 2 http http://identifiers.org/hgnc/10250 dis MONDO:0012574 Potocki-Lupski syndrome DOID DOID:0060853 one_to_one MONDO:0012574 Potocki-Lupski syndrome GARD GARD:0010145 one_to_one MONDO:0012574 Potocki-Lupski syndrome ICD10 ICD10:Q92.3 inexact -MONDO:0012574 Potocki-Lupski syndrome MONDO MONDO:0000762,MONDO:0015983,MONDO:0016950 subclass +MONDO:0012574 Potocki-Lupski syndrome MONDO MONDO:0000762,MONDO:0002320,MONDO:0015983,MONDO:0016950 subclass MONDO:0012574 Potocki-Lupski syndrome NCIT NCIT:C124846 one_to_one MONDO:0012574 Potocki-Lupski syndrome OMIM OMIM:610883 one_to_one MONDO:0012574 Potocki-Lupski syndrome Orphanet Orphanet:1713 one_to_one @@ -76378,7 +76544,7 @@ MONDO:0012635 COG8-CDG SCTID SCTID:717774004 one_to_one MONDO:0012635 COG8-CDG UMLS UMLS:C1970021 one_to_one MONDO:0012635 COG8-CDG http http://identifiers.org/hgnc/18623 disease_has_basis_in_dysfunction_of MONDO:0012636 RLS6 GARD GARD:0010273 one_to_one -MONDO:0012636 RLS6 MONDO MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass +MONDO:0012636 RLS6 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass MONDO:0012636 RLS6 OMIM OMIM:611185 one_to_one MONDO:0012637 COG1-CDG GARD GARD:0010226 one_to_one MONDO:0012637 COG1-CDG ICD10 ICD10:E77.8 inexact @@ -76415,10 +76581,10 @@ MONDO:0012640 Charcot-Marie-tooth disease type 4J SCTID SCTID:720638000 one_to_o MONDO:0012640 Charcot-Marie-tooth disease type 4J UMLS UMLS:C1970011 one_to_one MONDO:0012640 Charcot-Marie-tooth disease type 4J http http://identifiers.org/hgnc/16873 disease_has_basis_in_dysfunction_of MONDO:0012641 RLS5 GARD GARD:0010272 one_to_one -MONDO:0012641 RLS5 MONDO MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass +MONDO:0012641 RLS5 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass MONDO:0012641 RLS5 OMIM OMIM:611242 one_to_one MONDO:0012642 MAFD4 MESH MESH:C567073 one_to_one -MONDO:0012642 MAFD4 MONDO MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass +MONDO:0012642 MAFD4 MONDO MONDO:0002320,MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass MONDO:0012642 MAFD4 OMIM OMIM:611247 one_to_one MONDO:0012643 hereditary spastic paraplegia 32 DOID DOID:0110783 one_to_one MONDO:0012643 hereditary spastic paraplegia 32 GARD GARD:0012749 one_to_one @@ -76444,7 +76610,7 @@ MONDO:0012646 GLC1H MONDO MONDO:0005338,MONDO:0018174 subclass MONDO:0012646 GLC1H OMIM OMIM:611276 one_to_one MONDO:0012646 GLC1H UMLS UMLS:C1969811 one_to_one MONDO:0012647 generalized epilepsy with febrile seizures plus, type 3 MESH MESH:C565811 one_to_one -MONDO:0012647 generalized epilepsy with febrile seizures plus, type 3 MONDO MONDO:0000032,MONDO:0018214 subclass +MONDO:0012647 generalized epilepsy with febrile seizures plus, type 3 MONDO MONDO:0000032,MONDO:0002320,MONDO:0018214 subclass MONDO:0012647 generalized epilepsy with febrile seizures plus, type 3 OMIM OMIM:611277 one_to_one MONDO:0012647 generalized epilepsy with febrile seizures plus, type 3 UMLS UMLS:C1858674 one_to_one MONDO:0012647 generalized epilepsy with febrile seizures plus, type 3 http http://identifiers.org/hgnc/4087 disease_has_basis_in_dysfunction_of @@ -76470,7 +76636,7 @@ MONDO:0012650 Cernunnos-XLF deficiency http http://identifiers.org/hgnc/25737 di MONDO:0012651 spastic ataxia 2 DOID DOID:0050941 one_to_one MONDO:0012651 spastic ataxia 2 ICD10 ICD10:G11.4 inexact MONDO:0012651 spastic ataxia 2 MESH MESH:C566969 one_to_one -MONDO:0012651 spastic ataxia 2 MONDO MONDO:0015089,MONDO:0017845,MONDO:0017847 subclass +MONDO:0012651 spastic ataxia 2 MONDO MONDO:0001835,MONDO:0015089,MONDO:0017845,MONDO:0017847 subclass MONDO:0012651 spastic ataxia 2 OMIM OMIM:611302 one_to_one MONDO:0012651 spastic ataxia 2 Orphanet Orphanet:397946 one_to_one MONDO:0012651 spastic ataxia 2 UMLS UMLS:C1969796 one_to_one @@ -76520,7 +76686,7 @@ MONDO:0012658 brachydactyly type B2 UMLS UMLS:C1969652 one_to_one MONDO:0012658 brachydactyly type B2 http http://identifiers.org/hgnc/7866 disease_has_basis_in_dysfunction_of MONDO:0012659 age related macular degeneration 9 DOID DOID:0110021 one_to_one MONDO:0012659 age related macular degeneration 9 MESH MESH:C566958 one_to_one -MONDO:0012659 age related macular degeneration 9 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0012659 age related macular degeneration 9 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0012659 age related macular degeneration 9 OMIM OMIM:611378 one_to_one MONDO:0012659 age related macular degeneration 9 Orphanet Orphanet:160064 one_to_one MONDO:0012659 age related macular degeneration 9 UMLS UMLS:C1969651 one_to_one @@ -76580,7 +76746,7 @@ MONDO:0012670 autosomal recessive nonsyndromic deafness 63 OMIM OMIM:611451 one_ MONDO:0012670 autosomal recessive nonsyndromic deafness 63 UMLS UMLS:C1969621 one_to_one MONDO:0012670 autosomal recessive nonsyndromic deafness 63 http http://identifiers.org/hgnc/25033 disease_has_basis_in_dysfunction_of MONDO:0012671 ETM3 MESH MESH:C566949 one_to_one -MONDO:0012671 ETM3 MONDO MONDO:0003233,MONDO:0003847,MONDO:0015957 subclass +MONDO:0012671 ETM3 MONDO MONDO:0002320,MONDO:0003233,MONDO:0003847,MONDO:0015957 subclass MONDO:0012671 ETM3 OMIM OMIM:611456 one_to_one MONDO:0012671 ETM3 UMLS UMLS:C1969617 one_to_one MONDO:0012672 cholelithiasis DOID DOID:10211 one_to_one @@ -76598,7 +76764,7 @@ MONDO:0012673 CRCS2 MONDO MONDO:0005575 subclass MONDO:0012673 CRCS2 OMIM OMIM:611469 one_to_one MONDO:0012674 age related macular degeneration 10 DOID DOID:0110022 one_to_one MONDO:0012674 age related macular degeneration 10 MESH MESH:C566935 one_to_one -MONDO:0012674 age related macular degeneration 10 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0012674 age related macular degeneration 10 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0012674 age related macular degeneration 10 OMIM OMIM:611488 one_to_one MONDO:0012674 age related macular degeneration 10 Orphanet Orphanet:353890 one_to_one MONDO:0012674 age related macular degeneration 10 UMLS UMLS:C1969108 one_to_one @@ -76670,10 +76836,10 @@ MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 OMIM OMIM:611528 one MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 UMLS UMLS:C1969081 one_to_one MONDO:0012684 arrhythmogenic right ventricular dysplasia 12 http http://identifiers.org/hgnc/6207 disease_has_basis_in_dysfunction_of MONDO:0012685 MAFD5 MESH MESH:C567074 one_to_one -MONDO:0012685 MAFD5 MONDO MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass +MONDO:0012685 MAFD5 MONDO MONDO:0002320,MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass MONDO:0012685 MAFD5 OMIM OMIM:611535 one_to_one MONDO:0012686 MAFD6 MESH MESH:C567075 one_to_one -MONDO:0012686 MAFD6 MONDO MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass +MONDO:0012686 MAFD6 MONDO MONDO:0002320,MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass MONDO:0012686 MAFD6 OMIM OMIM:611536 one_to_one MONDO:0012687 familial cavitary optic disc anomaly MESH MESH:C566924 one_to_one MONDO:0012687 familial cavitary optic disc anomaly MONDO MONDO:0020149 subclass @@ -76715,6 +76881,7 @@ MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency MONDO MONDO:0016325,MONDO:0017693,MONDO:0024573 subclass MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency OMIM OMIM:611556 one_to_one MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency Orphanet Orphanet:137625 one_to_one +MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency UBERON UBERON:0000948 disease_has_location MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency UMLS UMLS:C1969054 one_to_one MONDO:0012693 glycogen storage disease due to muscle and heart glycogen synthase deficiency http http://identifiers.org/hgnc/4706 disease_has_basis_in_dysfunction_of MONDO:0012694 Joubert syndrome 7 DOID DOID:0111002 one_to_one @@ -76972,7 +77139,7 @@ MONDO:0012735 Temple-Baraitser syndrome EFO EFO:0009062 one_to_one MONDO:0012735 Temple-Baraitser syndrome GARD GARD:0009441 one_to_one MONDO:0012735 Temple-Baraitser syndrome ICD10 ICD10:Q87.2 inexact MONDO:0012735 Temple-Baraitser syndrome MESH MESH:C567516 one_to_one -MONDO:0012735 Temple-Baraitser syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019285,MONDO:0043005 subclass +MONDO:0012735 Temple-Baraitser syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019285,MONDO:0043005 subclass MONDO:0012735 Temple-Baraitser syndrome OMIM OMIM:611816 one_to_one MONDO:0012735 Temple-Baraitser syndrome Orphanet Orphanet:420561 one_to_one MONDO:0012735 Temple-Baraitser syndrome UMLS UMLS:C2678486 one_to_one @@ -77113,7 +77280,7 @@ MONDO:0012756 proximal 16p11.2 microdeletion syndrome GARD GARD:0010740 one_to_o MONDO:0012756 proximal 16p11.2 microdeletion syndrome ICD10 ICD10:Q93.5 inexact MONDO:0012756 proximal 16p11.2 microdeletion syndrome ICD9 ICD9:758.39 inexact MONDO:0012756 proximal 16p11.2 microdeletion syndrome MESH MESH:C579850 one_to_one -MONDO:0012756 proximal 16p11.2 microdeletion syndrome MONDO MONDO:0000761,MONDO:0005260,MONDO:0015680,MONDO:0016894 subclass +MONDO:0012756 proximal 16p11.2 microdeletion syndrome MONDO MONDO:0000761,MONDO:0002320,MONDO:0005260,MONDO:0015680,MONDO:0016894 subclass MONDO:0012756 proximal 16p11.2 microdeletion syndrome NCIT NCIT:C120408 one_to_one MONDO:0012756 proximal 16p11.2 microdeletion syndrome OMIM OMIM:611913 one_to_one MONDO:0012756 proximal 16p11.2 microdeletion syndrome Orphanet Orphanet:261197 one_to_one @@ -77131,11 +77298,11 @@ MONDO:0012758 prostate cancer, hereditary, 13 UMLS UMLS:C2677821 one_to_one MONDO:0012758 prostate cancer, hereditary, 13 http http://identifiers.org/hgnc/7372 disease_has_basis_in_dysfunction_of MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 GARD GARD:0010573 one_to_one MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 MESH MESH:C567455 one_to_one -MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 MONDO MONDO:0000111,MONDO:0015159,MONDO:0015226,MONDO:0015983,MONDO:0018455,MONDO:0043005 subclass +MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 MONDO MONDO:0000111,MONDO:0002320,MONDO:0015159,MONDO:0015226,MONDO:0015983,MONDO:0018455,MONDO:0043005 subclass MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 OMIM OMIM:611929 one_to_one MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 Orphanet Orphanet:488434 one_to_one MONDO:0012759 camptodactyly syndrome, Guadalajara type 3 UMLS UMLS:C2677809 one_to_one -MONDO:0012760 EIG5 MONDO MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass +MONDO:0012760 EIG5 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass MONDO:0012760 EIG5 OMIM OMIM:611934 one_to_one MONDO:0012761 chromosome 3q29 microduplication syndrome DOID DOID:0060459 one_to_one MONDO:0012761 chromosome 3q29 microduplication syndrome GARD GARD:0010360 one_to_one @@ -77178,7 +77345,7 @@ MONDO:0012766 hereditary spastic paraplegia 37 Orphanet Orphanet:171612 one_to_o MONDO:0012766 hereditary spastic paraplegia 37 UMLS UMLS:C2936880 one_to_one MONDO:0012767 age related macular degeneration 11 DOID DOID:0110023 one_to_one MONDO:0012767 age related macular degeneration 11 MESH MESH:C567450 one_to_one -MONDO:0012767 age related macular degeneration 11 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0012767 age related macular degeneration 11 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0012767 age related macular degeneration 11 OMIM OMIM:611953 one_to_one MONDO:0012767 age related macular degeneration 11 UMLS UMLS:C2677774 one_to_one MONDO:0012767 age related macular degeneration 11 http http://identifiers.org/hgnc/2475 disease_has_basis_in_dysfunction_of @@ -77253,7 +77420,7 @@ MONDO:0012785 IHPS3 MONDO MONDO:0001560,MONDO:0003847 subclass MONDO:0012785 IHPS3 OMIM OMIM:612017 one_to_one MONDO:0012785 IHPS3 UMLS UMLS:C2677588 one_to_one MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MESH MESH:C567434 one_to_one -MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MONDO MONDO:0017706,MONDO:0019743,MONDO:0020225 subclass +MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome MONDO MONDO:0002320,MONDO:0017706,MONDO:0019743,MONDO:0020225 subclass MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome OMIM OMIM:612018 one_to_one MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome Orphanet Orphanet:247794 one_to_one MONDO:0012786 juvenile cataract-microcornea-renal glucosuria syndrome SCTID SCTID:722457005 one_to_one @@ -77309,7 +77476,7 @@ MONDO:0012793 hypouricemia, renal, 2 OMIM OMIM:612076 one_to_one MONDO:0012793 hypouricemia, renal, 2 UMLS UMLS:C2677549 one_to_one MONDO:0012793 hypouricemia, renal, 2 http http://identifiers.org/hgnc/13446 disease_has_basis_in_dysfunction_of MONDO:0012794 ANE syndrome MESH MESH:C567425 one_to_one -MONDO:0012794 ANE syndrome MONDO MONDO:0015890,MONDO:0015983,MONDO:0019827,MONDO:0021034 subclass +MONDO:0012794 ANE syndrome MONDO MONDO:0002320,MONDO:0015890,MONDO:0015983,MONDO:0019827,MONDO:0021034 subclass MONDO:0012794 ANE syndrome OMIM OMIM:612079 one_to_one MONDO:0012794 ANE syndrome Orphanet Orphanet:157954 one_to_one MONDO:0012794 ANE syndrome UMLS UMLS:C2677535 one_to_one @@ -77546,7 +77713,7 @@ MONDO:0012832 inflammatory bowel disease 14 http http://identifiers.org/hgnc/612 MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome DOID DOID:0111161 one_to_one MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome ICD10 ICD10:Q75.1 inexact MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MESH MESH:C567382 one_to_one -MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO MONDO:0000426,MONDO:0005363,MONDO:0015338,MONDO:0020030,MONDO:0020254 subclass +MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0005363,MONDO:0015338,MONDO:0020030,MONDO:0020254 subclass MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome NCIT NCIT:C38145 one_to_one MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome OMIM OMIM:612247 one_to_one MONDO:0012833 Crouzon syndrome-acanthosis nigricans syndrome Orphanet Orphanet:93262 one_to_one @@ -77674,7 +77841,7 @@ MONDO:0012856 Birk-Barel syndrome DOID DOID:0050675 one_to_one MONDO:0012856 Birk-Barel syndrome GARD GARD:0010358 one_to_one MONDO:0012856 Birk-Barel syndrome ICD10 ICD10:Q87.8 inexact MONDO:0012856 Birk-Barel syndrome MESH MESH:C567357 one_to_one -MONDO:0012856 Birk-Barel syndrome MONDO MONDO:0000426,MONDO:0015983 subclass +MONDO:0012856 Birk-Barel syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015983 subclass MONDO:0012856 Birk-Barel syndrome OMIM OMIM:612292 one_to_one MONDO:0012856 Birk-Barel syndrome Orphanet Orphanet:166108 one_to_one MONDO:0012856 Birk-Barel syndrome UMLS UMLS:C2676770 one_to_one @@ -77685,7 +77852,7 @@ MONDO:0012857 POROK5 OMIM OMIM:612293 one_to_one MONDO:0012857 POROK5 UMLS UMLS:C2676769 one_to_one MONDO:0012858 primary CD59 deficiency ICD10 ICD10:D84.1 inexact MONDO:0012858 primary CD59 deficiency MESH MESH:C567355 one_to_one -MONDO:0012858 primary CD59 deficiency MONDO MONDO:0018727,MONDO:0020101,MONDO:0020127 subclass +MONDO:0012858 primary CD59 deficiency MONDO MONDO:0002320,MONDO:0018727,MONDO:0020101,MONDO:0020127 subclass MONDO:0012858 primary CD59 deficiency OMIM OMIM:612300 one_to_one MONDO:0012858 primary CD59 deficiency Orphanet Orphanet:169464 one_to_one MONDO:0012858 primary CD59 deficiency UMLS UMLS:C2676767 one_to_one @@ -77710,9 +77877,9 @@ MONDO:0012861 premature ovarian failure 6 MONDO MONDO:0005387,MONDO:0019852 subc MONDO:0012861 premature ovarian failure 6 OMIM OMIM:612310 one_to_one MONDO:0012861 premature ovarian failure 6 UMLS UMLS:C2676742 one_to_one MONDO:0012861 premature ovarian failure 6 http http://identifiers.org/hgnc/24669 disease_has_basis_in_dysfunction_of -MONDO:0012862 attention deficit-hyperactivity disorder, susceptibility to, 5 MONDO MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass +MONDO:0012862 attention deficit-hyperactivity disorder, susceptibility to, 5 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass MONDO:0012862 attention deficit-hyperactivity disorder, susceptibility to, 5 OMIM OMIM:612311 one_to_one -MONDO:0012863 attention deficit-hyperactivity disorder, susceptibility to, 6 MONDO MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass +MONDO:0012863 attention deficit-hyperactivity disorder, susceptibility to, 6 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass MONDO:0012863 attention deficit-hyperactivity disorder, susceptibility to, 6 OMIM OMIM:612312 one_to_one MONDO:0012864 chromosome 2q32-q33 deletion syndrome DOID DOID:0060428 one_to_one MONDO:0012864 chromosome 2q32-q33 deletion syndrome GARD GARD:0013206 one_to_one @@ -77800,7 +77967,7 @@ MONDO:0012876 heparin cofactor 2 deficiency SCTID SCTID:234468009 one_to_one MONDO:0012876 heparin cofactor 2 deficiency UMLS UMLS:C0398626 one_to_one MONDO:0012876 heparin cofactor 2 deficiency http http://identifiers.org/hgnc/4838 disease_has_basis_in_dysfunction_of MONDO:0012877 MAFD8 MESH MESH:C567530 one_to_one -MONDO:0012877 MAFD8 MONDO MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass +MONDO:0012877 MAFD8 MONDO MONDO:0002320,MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass MONDO:0012877 MAFD8 OMIM OMIM:612357 one_to_one MONDO:0012878 Cowden syndrome 2 MESH MESH:C567337 one_to_one MONDO:0012878 Cowden syndrome 2 MONDO MONDO:0016063 subclass @@ -77820,11 +77987,11 @@ MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia OMIM OMIM: MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia UMLS UMLS:C3552553 one_to_one MONDO:0012880 hypogonadotropic hypogonadism 5 with or without anosmia http http://identifiers.org/hgnc/20626 disease_has_basis_in_dysfunction_of MONDO:0012881 major affective disorder 7 MESH MESH:C567529 one_to_one -MONDO:0012881 major affective disorder 7 MONDO MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass +MONDO:0012881 major affective disorder 7 MONDO MONDO:0002320,MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass MONDO:0012881 major affective disorder 7 OMIM OMIM:612371 one_to_one MONDO:0012881 major affective disorder 7 http http://identifiers.org/hgnc/12801 disease_has_basis_in_dysfunction_of MONDO:0012882 MAFD9 MESH MESH:C567531 one_to_one -MONDO:0012882 MAFD9 MONDO MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass +MONDO:0012882 MAFD9 MONDO MONDO:0002320,MONDO:0003847,MONDO:0004985,MONDO:0019117 subclass MONDO:0012882 MAFD9 OMIM OMIM:612372 one_to_one MONDO:0012883 acute promyelocytic leukemia DOID DOID:0060318 one_to_one MONDO:0012883 acute promyelocytic leukemia EFO EFO:0000224 one_to_one @@ -77967,7 +78134,7 @@ MONDO:0012906 primary ciliary dyskinesia 9 OMIM OMIM:612444 one_to_one MONDO:0012906 primary ciliary dyskinesia 9 UMLS UMLS:C2676235 one_to_one MONDO:0012906 primary ciliary dyskinesia 9 http http://identifiers.org/hgnc/18744 disease_has_basis_in_dysfunction_of MONDO:0012907 blindness-scoliosis-arachnodactyly syndrome MESH MESH:C567309 one_to_one -MONDO:0012907 blindness-scoliosis-arachnodactyly syndrome MONDO MONDO:0015107,MONDO:0015332 subclass +MONDO:0012907 blindness-scoliosis-arachnodactyly syndrome MONDO MONDO:0002320,MONDO:0015107,MONDO:0015332 subclass MONDO:0012907 blindness-scoliosis-arachnodactyly syndrome OMIM OMIM:612445 one_to_one MONDO:0012907 blindness-scoliosis-arachnodactyly syndrome Orphanet Orphanet:171844 one_to_one MONDO:0012907 blindness-scoliosis-arachnodactyly syndrome SCTID SCTID:717920004 one_to_one @@ -78040,7 +78207,7 @@ MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome Orphanet Orphanet:261349 o MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome SCTID SCTID:719651000 one_to_one MONDO:0012916 chromosome 2p16.1-p15 deletion syndrome UMLS UMLS:C2675875,UMLS:C4304538 inexact MONDO:0012917 SLI4 MESH MESH:C567288 one_to_one -MONDO:0012917 SLI4 MONDO MONDO:0000724,MONDO:0003847,MONDO:0019117 subclass +MONDO:0012917 SLI4 MONDO MONDO:0000724,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0012917 SLI4 OMIM OMIM:612514 one_to_one MONDO:0012917 SLI4 UMLS UMLS:C2675874 one_to_one MONDO:0012918 primary ciliary dyskinesia 10 DOID DOID:0110612 one_to_one @@ -78134,7 +78301,7 @@ MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to MONDO MOND MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to OMIM OMIM:612551 one_to_one MONDO:0012931 focal segmental glomerulosclerosis 4, susceptibility to http http://identifiers.org/hgnc/618 disease_has_basis_in_dysfunction_of MONDO:0012932 MYP16 MESH MESH:C567259 one_to_one -MONDO:0012932 MYP16 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0012932 MYP16 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0012932 MYP16 OMIM OMIM:612554 one_to_one MONDO:0012932 MYP16 UMLS UMLS:C2675523 one_to_one MONDO:0012933 breast-ovarian cancer, familial, susceptibility to, 2 MONDO MONDO:0003582 subclass @@ -78252,7 +78419,7 @@ MONDO:0012961 type 1 diabetes mellitus 23 MESH MESH:C567233 one_to_one MONDO:0012961 type 1 diabetes mellitus 23 MONDO MONDO:0005147 subclass MONDO:0012961 type 1 diabetes mellitus 23 OMIM OMIM:612622 one_to_one MONDO:0012961 type 1 diabetes mellitus 23 UMLS UMLS:C2675472 one_to_one -MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 MONDO MONDO:0000065,MONDO:0005266,MONDO:0015107,MONDO:0016517,MONDO:0019052 subclass +MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 MONDO MONDO:0000065,MONDO:0002320,MONDO:0005266,MONDO:0015107,MONDO:0016517,MONDO:0019052 subclass MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 OMIM OMIM:612623 one_to_one MONDO:0012962 microvascular complications of diabetes, susceptibility to, 2 http http://identifiers.org/hgnc/3415 disease_has_basis_in_dysfunction_of MONDO:0012963 microvascular complications of diabetes, susceptibility to, 3 MONDO MONDO:0000065,MONDO:0005016,MONDO:0019052 subclass @@ -78285,13 +78452,13 @@ MONDO:0012968 Usher syndrome type 1H MESH MESH:C567227 one_to_one MONDO:0012968 Usher syndrome type 1H MONDO MONDO:0010168 subclass MONDO:0012968 Usher syndrome type 1H OMIM OMIM:612632 one_to_one MONDO:0012968 Usher syndrome type 1H UMLS UMLS:C2675458 one_to_one -MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 MONDO MONDO:0000065,MONDO:0005266,MONDO:0015107,MONDO:0016517,MONDO:0019052 subclass +MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 MONDO MONDO:0000065,MONDO:0002320,MONDO:0005266,MONDO:0015107,MONDO:0016517,MONDO:0019052 subclass MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 OMIM OMIM:612633 one_to_one MONDO:0012969 microvascular complications of diabetes, susceptibility to, 5 http http://identifiers.org/hgnc/9204 disease_has_basis_in_dysfunction_of MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 MONDO MONDO:0000065,MONDO:0005016,MONDO:0019052 subclass MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 OMIM OMIM:612634 one_to_one MONDO:0012970 microvascular complications of diabetes, susceptibility to, 6 http http://identifiers.org/hgnc/11180 disease_has_basis_in_dysfunction_of -MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 MONDO MONDO:0000065,MONDO:0005266,MONDO:0015107,MONDO:0016517,MONDO:0019052 subclass +MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 MONDO MONDO:0000065,MONDO:0002320,MONDO:0005266,MONDO:0015107,MONDO:0016517,MONDO:0019052 subclass MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 OMIM OMIM:612635 one_to_one MONDO:0012971 microvascular complications of diabetes, susceptibility to, 7 http http://identifiers.org/hgnc/4886 disease_has_basis_in_dysfunction_of MONDO:0012972 FEB10 MESH MESH:C567218 one_to_one @@ -78376,7 +78543,7 @@ MONDO:0012983 cone-rod dystrophy 12 UMLS UMLS:C2675210 one_to_one MONDO:0012983 cone-rod dystrophy 12 http http://identifiers.org/hgnc/9454 disease_has_basis_in_dysfunction_of MONDO:0012984 PHARC syndrome DOID DOID:0080181 one_to_one MONDO:0012984 PHARC syndrome MESH MESH:C567203 one_to_one -MONDO:0012984 PHARC syndrome MONDO MONDO:0004589,MONDO:0006025,MONDO:0015327,MONDO:0015905,MONDO:0016132,MONDO:0018119,MONDO:0019589,MONDO:0020240 subclass +MONDO:0012984 PHARC syndrome MONDO MONDO:0006025,MONDO:0015327,MONDO:0015905,MONDO:0016132,MONDO:0018119,MONDO:0019589,MONDO:0020240 subclass MONDO:0012984 PHARC syndrome OMIM OMIM:612674 one_to_one MONDO:0012984 PHARC syndrome Orphanet Orphanet:171848 one_to_one MONDO:0012984 PHARC syndrome UMLS UMLS:C2675204 one_to_one @@ -78451,7 +78618,7 @@ MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency S MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency UMLS UMLS:C0268468 one_to_one MONDO:0012994 dopa-responsive dystonia due to sepiapterin reductase deficiency http http://identifiers.org/hgnc/11257 disease_has_basis_in_dysfunction_of MONDO:0012995 MYP15 MESH MESH:C567193 one_to_one -MONDO:0012995 MYP15 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0012995 MYP15 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0012995 MYP15 OMIM OMIM:612717 one_to_one MONDO:0012995 MYP15 UMLS UMLS:C2675180 one_to_one MONDO:0012996 AGAT deficiency DOID DOID:0050712 one_to_one @@ -78621,12 +78788,13 @@ MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis O MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis Orphanet Orphanet:210115 one_to_one MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis UMLS UMLS:C2748507 one_to_one MONDO:0013021 sterile multifocal osteomyelitis with periostitis and pustulosis http http://identifiers.org/hgnc/6000 disease_has_basis_in_dysfunction_of -MONDO:0013022 RLS7 MONDO MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass +MONDO:0013022 RLS7 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass MONDO:0013022 RLS7 OMIM OMIM:612853 one_to_one -MONDO:0013023 OFC12 MESH MESH:C567548 one_to_one -MONDO:0013023 OFC12 MONDO MONDO:0015420,MONDO:0016043,MONDO:0016044 subclass -MONDO:0013023 OFC12 OMIM OMIM:612858 one_to_one -MONDO:0013023 OFC12 UMLS UMLS:C2748505 one_to_one +MONDO:0013023 orofacial cleft 12 MESH MESH:C567548 one_to_one +MONDO:0013023 orofacial cleft 12 MONDO MONDO:0021128 has_modifier +MONDO:0013023 orofacial cleft 12 MONDO MONDO:0000358 subclass +MONDO:0013023 orofacial cleft 12 OMIM OMIM:612858 one_to_one +MONDO:0013023 orofacial cleft 12 UMLS UMLS:C2748505 one_to_one MONDO:0013024 chronic thromboembolic pulmonary hypertension GARD GARD:0013124 one_to_one MONDO:0013024 chronic thromboembolic pulmonary hypertension ICD9 ICD9:415.19,ICD9:416.8 inexact MONDO:0013024 chronic thromboembolic pulmonary hypertension MONDO MONDO:0019096 subclass @@ -78682,7 +78850,7 @@ MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal MESH MESH:C567876 one_ MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal MONDO MONDO:0020341 subclass MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal OMIM OMIM:612881 one_to_one MONDO:0013031 chromosome 5Q14.3 deletion syndrome, distal UMLS UMLS:C2752071 one_to_one -MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 MONDO MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass +MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 OMIM OMIM:612899 one_to_one MONDO:0013032 epilepsy, idiopathic generalized, susceptibility to, 8 http http://identifiers.org/hgnc/1514 disease_has_basis_in_dysfunction_of MONDO:0013033 cerebral palsy, spastic quadriplegic, 2 MESH MESH:C567867 one_to_one @@ -78706,7 +78874,7 @@ MONDO:0013035 orofaciodigital syndrome XI SCTID SCTID:718681002 one_to_one MONDO:0013036 Zechi-Ceide syndrome GARD GARD:0010582 one_to_one MONDO:0013036 Zechi-Ceide syndrome ICD10 ICD10:Q87.8 inexact MONDO:0013036 Zechi-Ceide syndrome MESH MESH:C567865 one_to_one -MONDO:0013036 Zechi-Ceide syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0013036 Zechi-Ceide syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0013036 Zechi-Ceide syndrome OMIM OMIM:612916 one_to_one MONDO:0013036 Zechi-Ceide syndrome Orphanet Orphanet:217017 one_to_one MONDO:0013036 Zechi-Ceide syndrome UMLS UMLS:C2752047 one_to_one @@ -78758,7 +78926,7 @@ MONDO:0013045 mycobacterium tuberculosis, susceptibility to, 3 OMIM OMIM:612929 MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency GARD GARD:0002125 one_to_one MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency ICD10 ICD10:E74.0 inexact MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MESH MESH:C567861 one_to_one -MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MONDO MONDO:0002412,MONDO:0016118 subclass +MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency MONDO MONDO:0002320,MONDO:0002412,MONDO:0016118 subclass MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency OMIM OMIM:612932 one_to_one MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency Orphanet Orphanet:99849 one_to_one MONDO:0013046 glycogen storage disease due to muscle beta-enolase deficiency UMLS UMLS:C2752027 one_to_one @@ -78767,7 +78935,7 @@ MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit de MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency ICD10 ICD10:E74.0 inexact MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency ICD9 ICD9:271.8 inexact MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MESH MESH:C538133 one_to_one -MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO MONDO:0016118,MONDO:0016527 subclass +MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency MONDO MONDO:0002320,MONDO:0002412,MONDO:0016118,MONDO:0016527 subclass MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency OMIM OMIM:612933 one_to_one MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency Orphanet Orphanet:284426 one_to_one MONDO:0013047 glycogen storage disease due to lactate dehydrogenase M-subunit deficiency SCTID SCTID:237982007 one_to_one @@ -78940,7 +79108,7 @@ MONDO:0013074 Encephalocraniocutaneous lipomatosis UMLS UMLS:C0406612 one_to_one MONDO:0013074 Encephalocraniocutaneous lipomatosis http http://identifiers.org/hgnc/3688 disease_has_basis_in_dysfunction_of MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 MONDO MONDO:0012521 subclass MONDO:0013075 herpes simplex encephalitis, susceptibility to, 2 OMIM OMIM:613002 one_to_one -MONDO:0013076 attention deficit-hyperactivity disorder, susceptibility to, 7 MONDO MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass +MONDO:0013076 attention deficit-hyperactivity disorder, susceptibility to, 7 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005302,MONDO:0019117 subclass MONDO:0013076 attention deficit-hyperactivity disorder, susceptibility to, 7 OMIM OMIM:613003 one_to_one MONDO:0013076 attention deficit-hyperactivity disorder, susceptibility to, 7 http http://identifiers.org/hgnc/20692 disease_has_basis_in_dysfunction_of MONDO:0013077 Santos syndrome MESH MESH:C567819 one_to_one @@ -78972,7 +79140,7 @@ MONDO:0013081 lymphoproliferative syndrome 1 http http://identifiers.org/hgnc/61 MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome GARD GARD:0002695 one_to_one MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome ICD10 ICD10:Q43.1 inexact MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome MESH MESH:C538119 one_to_one -MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome MONDO MONDO:0005072,MONDO:0005814,MONDO:0005872,MONDO:0006290,MONDO:0015184,MONDO:0015186,MONDO:0015246,MONDO:0019117 subclass +MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome MONDO MONDO:0002320,MONDO:0005072,MONDO:0005814,MONDO:0005872,MONDO:0006290,MONDO:0015184,MONDO:0015186,MONDO:0015246,MONDO:0019117 subclass MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome OMIM OMIM:613013 one_to_one MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome Orphanet Orphanet:2151 one_to_one MONDO:0013082 Hirschsprung disease-ganglioneuroblastoma syndrome UMLS UMLS:C2751683 one_to_one @@ -79001,7 +79169,7 @@ MONDO:0013090 chromosome 19q13.11 deletion syndrome DOID DOID:0060408 one_to_one MONDO:0013090 chromosome 19q13.11 deletion syndrome GARD GARD:0010592 one_to_one MONDO:0013090 chromosome 19q13.11 deletion syndrome ICD10 ICD10:Q93.5 inexact MONDO:0013090 chromosome 19q13.11 deletion syndrome MESH MESH:C567810 one_to_one -MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO MONDO:0000761,MONDO:0015159,MONDO:0015983,MONDO:0016917,MONDO:0043005 subclass +MONDO:0013090 chromosome 19q13.11 deletion syndrome MONDO MONDO:0000761,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016917,MONDO:0043005 subclass MONDO:0013090 chromosome 19q13.11 deletion syndrome OMIM OMIM:613026 one_to_one MONDO:0013090 chromosome 19q13.11 deletion syndrome Orphanet Orphanet:217346 one_to_one MONDO:0013090 chromosome 19q13.11 deletion syndrome SCTID SCTID:719599008 one_to_one @@ -79009,7 +79177,7 @@ MONDO:0013090 chromosome 19q13.11 deletion syndrome UMLS UMLS:C2751651,UMLS:C430 MONDO:0013091 glycogen storage disease IXc DOID DOID:0111043 one_to_one MONDO:0013091 glycogen storage disease IXc ICD10 ICD10:E74.0 inexact MONDO:0013091 glycogen storage disease IXc MESH MESH:C567809 one_to_one -MONDO:0013091 glycogen storage disease IXc MONDO MONDO:0000366,MONDO:0015115,MONDO:0018251 subclass +MONDO:0013091 glycogen storage disease IXc MONDO MONDO:0000366,MONDO:0002412,MONDO:0015115,MONDO:0018251 subclass MONDO:0013091 glycogen storage disease IXc OMIM OMIM:613027 one_to_one MONDO:0013091 glycogen storage disease IXc Orphanet Orphanet:264580 one_to_one MONDO:0013091 glycogen storage disease IXc UMLS UMLS:C2751643 one_to_one @@ -79041,7 +79209,7 @@ MONDO:0013098 noise induced hearing loss SCTID SCTID:73415002 one_to_one MONDO:0013099 combined pituitary hormone deficiencies, genetic form GARD GARD:0002252,GARD:0010602 inexact MONDO:0013099 combined pituitary hormone deficiencies, genetic form ICD10 ICD10:E23.0 inexact MONDO:0013099 combined pituitary hormone deficiencies, genetic form MONDO MONDO:0021150 has_modifier -MONDO:0013099 combined pituitary hormone deficiencies, genetic form MONDO MONDO:0005152,MONDO:0015789,MONDO:0015891,MONDO:0019117 subclass +MONDO:0013099 combined pituitary hormone deficiencies, genetic form MONDO MONDO:0002320,MONDO:0005152,MONDO:0015789,MONDO:0015891,MONDO:0019117 subclass MONDO:0013099 combined pituitary hormone deficiencies, genetic form OMIMPS OMIMPS:613038 one_to_one MONDO:0013099 combined pituitary hormone deficiencies, genetic form Orphanet Orphanet:95494 one_to_one MONDO:0013099 combined pituitary hormone deficiencies, genetic form SCTID SCTID:718182008 one_to_one @@ -79382,7 +79550,7 @@ MONDO:0013163 nephronophthisis-like nephropathy 1 http http://identifiers.org/hg MONDO:0013164 beta-ureidopropionase deficiency ICD10 ICD10:E79.8 inexact MONDO:0013164 beta-ureidopropionase deficiency ICD9 ICD9:277.6 inexact MONDO:0013164 beta-ureidopropionase deficiency MESH MESH:C563210 one_to_one -MONDO:0013164 beta-ureidopropionase deficiency MONDO MONDO:0015955,MONDO:0016404,MONDO:0019058,MONDO:0019238 subclass +MONDO:0013164 beta-ureidopropionase deficiency MONDO MONDO:0002320,MONDO:0015955,MONDO:0016404,MONDO:0019058,MONDO:0019238 subclass MONDO:0013164 beta-ureidopropionase deficiency OMIM OMIM:613161 one_to_one MONDO:0013164 beta-ureidopropionase deficiency Orphanet Orphanet:65287 one_to_one MONDO:0013164 beta-ureidopropionase deficiency SCTID SCTID:124511000 one_to_one @@ -79421,7 +79589,7 @@ MONDO:0013168 dilated cardiomyopathy 1DD http http://identifiers.org/hgnc/27424 MONDO:0013169 chromosome 5p13 duplication syndrome DOID DOID:0060460 one_to_one MONDO:0013169 chromosome 5p13 duplication syndrome ICD10 ICD10:Q92.3 inexact MONDO:0013169 chromosome 5p13 duplication syndrome MESH MESH:C567717 one_to_one -MONDO:0013169 chromosome 5p13 duplication syndrome MONDO MONDO:0000762,MONDO:0015159,MONDO:0015983,MONDO:0016942,MONDO:0043005 subclass +MONDO:0013169 chromosome 5p13 duplication syndrome MONDO MONDO:0000762,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016942,MONDO:0043005 subclass MONDO:0013169 chromosome 5p13 duplication syndrome OMIM OMIM:613174 one_to_one MONDO:0013169 chromosome 5p13 duplication syndrome Orphanet Orphanet:329802 one_to_one MONDO:0013169 chromosome 5p13 duplication syndrome UMLS UMLS:C2750805 one_to_one @@ -79519,7 +79687,7 @@ MONDO:0013181 amelogenesis imperfecta hypomaturation type 2A3 http http://identi MONDO:0013182 chromosome 17p13.3 duplication syndrome DOID DOID:0060432 one_to_one MONDO:0013182 chromosome 17p13.3 duplication syndrome ICD10 ICD10:Q92.3 inexact MONDO:0013182 chromosome 17p13.3 duplication syndrome MESH MESH:C567705 one_to_one -MONDO:0013182 chromosome 17p13.3 duplication syndrome MONDO MONDO:0000762,MONDO:0015159,MONDO:0015983,MONDO:0016950,MONDO:0043005 subclass +MONDO:0013182 chromosome 17p13.3 duplication syndrome MONDO MONDO:0000762,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016950,MONDO:0043005 subclass MONDO:0013182 chromosome 17p13.3 duplication syndrome OMIM OMIM:613215 one_to_one MONDO:0013182 chromosome 17p13.3 duplication syndrome Orphanet Orphanet:217385 one_to_one MONDO:0013182 chromosome 17p13.3 duplication syndrome SCTID SCTID:719582007 one_to_one @@ -79534,7 +79702,7 @@ MONDO:0013184 congenital diarrhea 5 with tufting enteropathy DOID DOID:0060776 o MONDO:0013184 congenital diarrhea 5 with tufting enteropathy GARD GARD:0010630 one_to_one MONDO:0013184 congenital diarrhea 5 with tufting enteropathy ICD10 ICD10:P78.3 inexact MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MESH MESH:C567703 one_to_one -MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO MONDO:0000824,MONDO:0015182,MONDO:0019126 subclass +MONDO:0013184 congenital diarrhea 5 with tufting enteropathy MONDO MONDO:0000249,MONDO:0015182,MONDO:0019126,MONDO:0045032 subclass MONDO:0013184 congenital diarrhea 5 with tufting enteropathy OMIM OMIM:613217 one_to_one MONDO:0013184 congenital diarrhea 5 with tufting enteropathy Orphanet Orphanet:92050 one_to_one MONDO:0013184 congenital diarrhea 5 with tufting enteropathy SCTID SCTID:715669000 one_to_one @@ -79658,7 +79826,7 @@ MONDO:0013207 FECD7 UMLS UMLS:C2750447 one_to_one MONDO:0013208 cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome GARD GARD:0010706 one_to_one MONDO:0013208 cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome ICD9 ICD9:277.89 inexact MONDO:0013208 cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome MESH MESH:C548016 one_to_one -MONDO:0013208 cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome MONDO MONDO:0000214,MONDO:0015115,MONDO:0017661,MONDO:0017766 subclass +MONDO:0013208 cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome MONDO MONDO:0000214,MONDO:0002320,MONDO:0015115,MONDO:0017661,MONDO:0017766 subclass MONDO:0013208 cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome OMIM OMIM:613280 one_to_one MONDO:0013208 cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome Orphanet Orphanet:309854 one_to_one MONDO:0013208 cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome SCTID SCTID:702377007 one_to_one @@ -79755,7 +79923,7 @@ MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, MC)garbanC) typ MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, MC)garbanC) type UMLS UMLS:C2750075 one_to_one MONDO:0013223 autosomal recessive spondylometaphyseal dysplasia, MC)garbanC) type http http://identifiers.org/hgnc/29679 disease_has_basis_in_dysfunction_of MONDO:0013224 rhabdoid tumor predisposition syndrome 2 MESH MESH:C567643 one_to_one -MONDO:0013224 rhabdoid tumor predisposition syndrome 2 MONDO MONDO:0016473,MONDO:0019117,MONDO:0020560 subclass +MONDO:0013224 rhabdoid tumor predisposition syndrome 2 MONDO MONDO:0002320,MONDO:0016473,MONDO:0019117,MONDO:0020560 subclass MONDO:0013224 rhabdoid tumor predisposition syndrome 2 OMIM OMIM:613325 one_to_one MONDO:0013224 rhabdoid tumor predisposition syndrome 2 UMLS UMLS:C2750074 one_to_one MONDO:0013224 rhabdoid tumor predisposition syndrome 2 http http://identifiers.org/hgnc/11100 disease_has_basis_in_dysfunction_of @@ -79763,7 +79931,7 @@ MONDO:0013225 congenital generalized lipodystrophy type 4 DOID DOID:0111138 one_ MONDO:0013225 congenital generalized lipodystrophy type 4 GARD GARD:0010937 one_to_one MONDO:0013225 congenital generalized lipodystrophy type 4 ICD10 ICD10:E88.1 inexact MONDO:0013225 congenital generalized lipodystrophy type 4 MESH MESH:C567642 one_to_one -MONDO:0013225 congenital generalized lipodystrophy type 4 MONDO MONDO:0006536,MONDO:0015110,MONDO:0015885,MONDO:0015967,MONDO:0016110 subclass +MONDO:0013225 congenital generalized lipodystrophy type 4 MONDO MONDO:0002320,MONDO:0006536,MONDO:0015110,MONDO:0015885,MONDO:0015967,MONDO:0016110 subclass MONDO:0013225 congenital generalized lipodystrophy type 4 OMIM OMIM:613327 one_to_one MONDO:0013225 congenital generalized lipodystrophy type 4 Orphanet Orphanet:228429 one_to_one MONDO:0013225 congenital generalized lipodystrophy type 4 UMLS UMLS:C2750069 one_to_one @@ -79880,7 +80048,7 @@ MONDO:0013244 brachydactyly type E2 OMIM OMIM:613382 one_to_one MONDO:0013244 brachydactyly type E2 UMLS UMLS:C3150644 one_to_one MONDO:0013244 brachydactyly type E2 http http://identifiers.org/hgnc/9607 disease_has_basis_in_dysfunction_of MONDO:0013245 syndromic multisystem autoimmune disease due to itch deficiency GARD GARD:0010775 one_to_one -MONDO:0013245 syndromic multisystem autoimmune disease due to itch deficiency MONDO MONDO:0000568,MONDO:0015118,MONDO:0015159,MONDO:0015510,MONDO:0015616,MONDO:0015709,MONDO:0015939,MONDO:0015983,MONDO:0019126,MONDO:0019787 subclass +MONDO:0013245 syndromic multisystem autoimmune disease due to itch deficiency MONDO MONDO:0000568,MONDO:0002320,MONDO:0015118,MONDO:0015159,MONDO:0015510,MONDO:0015616,MONDO:0015709,MONDO:0015939,MONDO:0015983,MONDO:0019126,MONDO:0019787 subclass MONDO:0013245 syndromic multisystem autoimmune disease due to itch deficiency OMIM OMIM:613385 one_to_one MONDO:0013245 syndromic multisystem autoimmune disease due to itch deficiency Orphanet Orphanet:228426 one_to_one MONDO:0013245 syndromic multisystem autoimmune disease due to itch deficiency UMLS UMLS:C3150649 one_to_one @@ -79935,7 +80103,7 @@ MONDO:0013256 chromosome 15q24 deletion syndrome DOID DOID:0060395 one_to_one MONDO:0013256 chromosome 15q24 deletion syndrome GARD GARD:0012219 one_to_one MONDO:0013256 chromosome 15q24 deletion syndrome ICD10 ICD10:Q93.5 inexact MONDO:0013256 chromosome 15q24 deletion syndrome MESH MESH:C579849 one_to_one -MONDO:0013256 chromosome 15q24 deletion syndrome MONDO MONDO:0000761,MONDO:0015159,MONDO:0015983,MONDO:0016913,MONDO:0043005 subclass +MONDO:0013256 chromosome 15q24 deletion syndrome MONDO MONDO:0000761,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016913,MONDO:0043005 subclass MONDO:0013256 chromosome 15q24 deletion syndrome OMIM OMIM:613406 one_to_one MONDO:0013256 chromosome 15q24 deletion syndrome Orphanet Orphanet:94065 one_to_one MONDO:0013256 chromosome 15q24 deletion syndrome SCTID SCTID:699308002 one_to_one @@ -79947,7 +80115,8 @@ MONDO:0013258 autism, susceptibility to, 16 MONDO MONDO:0005260 subclass MONDO:0013258 autism, susceptibility to, 16 OMIM OMIM:613410 one_to_one MONDO:0013258 autism, susceptibility to, 16 http http://identifiers.org/hgnc/20653 disease_has_basis_in_dysfunction_of MONDO:0013259 Oguchi disease-2 DOID DOID:0110713 one_to_one -MONDO:0013259 Oguchi disease-2 MONDO MONDO:0004587,MONDO:0004589,MONDO:0019152 subclass +MONDO:0013259 Oguchi disease-2 MONDO MONDO:0004587 excluded_subClassOf +MONDO:0013259 Oguchi disease-2 MONDO MONDO:0019152 subclass MONDO:0013259 Oguchi disease-2 OMIM OMIM:613411 one_to_one MONDO:0013259 Oguchi disease-2 UMLS UMLS:C3150678 one_to_one MONDO:0013259 Oguchi disease-2 http http://identifiers.org/hgnc/10013 disease_has_basis_in_dysfunction_of @@ -80129,7 +80298,7 @@ MONDO:0013290 agammaglobulinemia 5, autosomal dominant UMLS UMLS:C3150753 one_to MONDO:0013290 agammaglobulinemia 5, autosomal dominant http http://identifiers.org/hgnc/19027 disease_has_basis_in_dysfunction_of MONDO:0013291 glycogen storage disease XV DOID DOID:0050579 one_to_one MONDO:0013291 glycogen storage disease XV ICD10 ICD10:E74.0 inexact -MONDO:0013291 glycogen storage disease XV MONDO MONDO:0002412,MONDO:0016118 subclass +MONDO:0013291 glycogen storage disease XV MONDO MONDO:0002320,MONDO:0002412,MONDO:0016118 subclass MONDO:0013291 glycogen storage disease XV OMIM OMIM:613507 one_to_one MONDO:0013291 glycogen storage disease XV Orphanet Orphanet:263297 one_to_one MONDO:0013291 glycogen storage disease XV SCTID SCTID:717821004 one_to_one @@ -80172,7 +80341,7 @@ MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H Orphanet MONDO:0013297 autosomal dominant limb-girdle muscular dystrophy type 1H UMLS UMLS:C3150786 one_to_one MONDO:0013298 chromosome 17q21.31 duplication syndrome DOID DOID:0060434 one_to_one MONDO:0013298 chromosome 17q21.31 duplication syndrome ICD10 ICD10:Q92.3 inexact -MONDO:0013298 chromosome 17q21.31 duplication syndrome MONDO MONDO:0000762,MONDO:0015159,MONDO:0015983,MONDO:0016967,MONDO:0043005 subclass +MONDO:0013298 chromosome 17q21.31 duplication syndrome MONDO MONDO:0000762,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016967,MONDO:0043005 subclass MONDO:0013298 chromosome 17q21.31 duplication syndrome OMIM OMIM:613533 one_to_one MONDO:0013298 chromosome 17q21.31 duplication syndrome Orphanet Orphanet:217340 one_to_one MONDO:0013298 chromosome 17q21.31 duplication syndrome SCTID SCTID:716683005 one_to_one @@ -80246,9 +80415,8 @@ MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreducta MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency SCTID SCTID:715733000 one_to_one MONDO:0013310 congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency http http://identifiers.org/hgnc/9208 disease_has_basis_in_dysfunction_of MONDO:0013311 ectodermal dysplasia-syndactyly syndrome DC DC:0000645 one_to_one -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome HP HP:0001159 disease_has_major_feature MONDO:0013311 ectodermal dysplasia-syndactyly syndrome ICD10 ICD10:Q82.8 inexact -MONDO:0013311 ectodermal dysplasia-syndactyly syndrome MONDO MONDO:0017434,MONDO:0019287 subclass +MONDO:0013311 ectodermal dysplasia-syndactyly syndrome MONDO MONDO:0017434,MONDO:0019287,MONDO:0021002 subclass MONDO:0013311 ectodermal dysplasia-syndactyly syndrome OMIMPS OMIMPS:613573 one_to_one MONDO:0013311 ectodermal dysplasia-syndactyly syndrome Orphanet Orphanet:247820 one_to_one MONDO:0013311 ectodermal dysplasia-syndactyly syndrome UMLS UMLS:CN228599 one_to_one @@ -80374,7 +80542,7 @@ MONDO:0013335 tuberculin skin test reactivity, absence of MONDO MONDO:0003847 su MONDO:0013335 tuberculin skin test reactivity, absence of OMIM OMIM:613636 one_to_one MONDO:0013336 chromosome 19p13.13 deletion syndrome DOID DOID:0060426 one_to_one MONDO:0013336 chromosome 19p13.13 deletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0013336 chromosome 19p13.13 deletion syndrome MONDO MONDO:0000761,MONDO:0015159,MONDO:0015983,MONDO:0016897,MONDO:0043005 subclass +MONDO:0013336 chromosome 19p13.13 deletion syndrome MONDO MONDO:0000761,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016897,MONDO:0043005 subclass MONDO:0013336 chromosome 19p13.13 deletion syndrome OMIM OMIM:613638 one_to_one MONDO:0013336 chromosome 19p13.13 deletion syndrome Orphanet Orphanet:357001 one_to_one MONDO:0013336 chromosome 19p13.13 deletion syndrome UMLS UMLS:C3150894,UMLS:CN204595 inexact @@ -80525,7 +80693,7 @@ MONDO:0013361 congenital prothrombin deficiency SCTID SCTID:73975000 one_to_one MONDO:0013361 congenital prothrombin deficiency UMLS UMLS:C0020640 one_to_one MONDO:0013361 congenital prothrombin deficiency http http://identifiers.org/hgnc/3535 disease_has_basis_in_dysfunction_of MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome ICD10 ICD10:Q87.0 inexact -MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome OMIM OMIM:613680 one_to_one MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome Orphanet Orphanet:363444 one_to_one MONDO:0013362 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome UMLS UMLS:C3150939 one_to_one @@ -80620,6 +80788,7 @@ MONDO:0013377 isolated microphthalmia 7 OMIM OMIM:613704 one_to_one MONDO:0013377 isolated microphthalmia 7 UMLS UMLS:C3150969 one_to_one MONDO:0013377 isolated microphthalmia 7 http http://identifiers.org/hgnc/4218 disease_has_basis_in_dysfunction_of MONDO:0013378 orofacial cleft 10 MESH MESH:C566605 one_to_one +MONDO:0013378 orofacial cleft 10 MONDO MONDO:0021128 has_modifier MONDO:0013378 orofacial cleft 10 MONDO MONDO:0000358,MONDO:0016044 subclass MONDO:0013378 orofacial cleft 10 OMIM OMIM:613705 one_to_one MONDO:0013378 orofacial cleft 10 http http://identifiers.org/hgnc/12502 disease_has_basis_in_dysfunction_of @@ -80637,7 +80806,7 @@ MONDO:0013381 neuropathy, hereditary sensory, type 1D MONDO MONDO:0018213 subcla MONDO:0013381 neuropathy, hereditary sensory, type 1D OMIM OMIM:613708 one_to_one MONDO:0013381 neuropathy, hereditary sensory, type 1D UMLS UMLS:C3150972 one_to_one MONDO:0013381 neuropathy, hereditary sensory, type 1D http http://identifiers.org/hgnc/11231 disease_has_basis_in_dysfunction_of -MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis MONDO MONDO:0000152,MONDO:0020127 subclass +MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis MONDO MONDO:0000152,MONDO:0002320,MONDO:0020127 subclass MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis OMIM OMIM:613710 one_to_one MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis Orphanet Orphanet:217396 one_to_one MONDO:0013382 progressive demyelinating neuropathy with bilateral striatal necrosis UMLS UMLS:C3150973 one_to_one @@ -80761,7 +80930,7 @@ MONDO:0013403 heterotaxy, visceral, 4, autosomal http http://identifiers.org/hgn MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase DOID DOID:0111039 one_to_one MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase GARD GARD:0013177 one_to_one MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase ICD10 ICD10:E72.1 inexact -MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO MONDO:0000351,MONDO:0015983,MONDO:0019213,MONDO:0019222 subclass +MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO MONDO:0000351,MONDO:0015983,MONDO:0019213 subclass MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase OMIM OMIM:613752 one_to_one MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Orphanet Orphanet:88618 one_to_one MONDO:0013404 hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase UMLS UMLS:C3151058,UMLS:C4510276 inexact @@ -80774,7 +80943,7 @@ MONDO:0013405 retinitis pigmentosa 49 UMLS UMLS:C3151059 one_to_one MONDO:0013405 retinitis pigmentosa 49 http http://identifiers.org/hgnc/2148 disease_has_basis_in_dysfunction_of MONDO:0013406 age related macular degeneration 6 DOID DOID:0110018 one_to_one MONDO:0013406 age related macular degeneration 6 MESH MESH:C563674 one_to_one -MONDO:0013406 age related macular degeneration 6 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0013406 age related macular degeneration 6 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0013406 age related macular degeneration 6 OMIM OMIM:613757 one_to_one MONDO:0013406 age related macular degeneration 6 UMLS UMLS:C3151060 one_to_one MONDO:0013406 age related macular degeneration 6 http http://identifiers.org/hgnc/18286 disease_has_basis_in_dysfunction_of @@ -80790,7 +80959,7 @@ MONDO:0013408 FADD-related immunodeficiency Orphanet Orphanet:306550 one_to_one MONDO:0013408 FADD-related immunodeficiency UMLS UMLS:C3151062,UMLS:C4509831 inexact MONDO:0013408 FADD-related immunodeficiency http http://identifiers.org/hgnc/3573 disease_has_basis_in_dysfunction_of MONDO:0013409 age related macular degeneration 5 DOID DOID:0110028 one_to_one -MONDO:0013409 age related macular degeneration 5 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0013409 age related macular degeneration 5 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0013409 age related macular degeneration 5 OMIM OMIM:613761 one_to_one MONDO:0013409 age related macular degeneration 5 UMLS UMLS:C3151063 one_to_one MONDO:0013409 age related macular degeneration 5 http http://identifiers.org/hgnc/3438 disease_has_basis_in_dysfunction_of @@ -80828,7 +80997,7 @@ MONDO:0013415 chromosome 17p13.1 deletion syndrome MONDO MONDO:0000761 subclass MONDO:0013415 chromosome 17p13.1 deletion syndrome OMIM OMIM:613776 one_to_one MONDO:0013415 chromosome 17p13.1 deletion syndrome UMLS UMLS:C3151069 one_to_one MONDO:0013416 age related macular degeneration 8 DOID DOID:0110020 one_to_one -MONDO:0013416 age related macular degeneration 8 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0013416 age related macular degeneration 8 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0013416 age related macular degeneration 8 OMIM OMIM:613778 one_to_one MONDO:0013416 age related macular degeneration 8 UMLS UMLS:C3151070 one_to_one MONDO:0013416 age related macular degeneration 8 http http://identifiers.org/hgnc/32685 disease_has_basis_in_dysfunction_of @@ -80851,7 +81020,7 @@ MONDO:0013419 complement component C1s deficiency OMIM OMIM:613783 one_to_one MONDO:0013419 complement component C1s deficiency UMLS UMLS:C3151078 one_to_one MONDO:0013419 complement component C1s deficiency http http://identifiers.org/hgnc/1247 disease_has_basis_in_dysfunction_of MONDO:0013420 age related macular degeneration 12 DOID DOID:0110024 one_to_one -MONDO:0013420 age related macular degeneration 12 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0013420 age related macular degeneration 12 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0013420 age related macular degeneration 12 OMIM OMIM:613784 one_to_one MONDO:0013420 age related macular degeneration 12 UMLS UMLS:C3151079 one_to_one MONDO:0013420 age related macular degeneration 12 http http://identifiers.org/hgnc/2558 disease_has_basis_in_dysfunction_of @@ -81143,9 +81312,10 @@ MONDO:0013465 achromatopsia 4 MONDO MONDO:0018852 subclass MONDO:0013465 achromatopsia 4 OMIM OMIM:613856 one_to_one MONDO:0013465 achromatopsia 4 UMLS UMLS:C1841721 one_to_one MONDO:0013465 achromatopsia 4 http http://identifiers.org/hgnc/4394 disease_has_basis_in_dysfunction_of -MONDO:0013466 OFC13 MONDO MONDO:0000358,MONDO:0003847 subclass -MONDO:0013466 OFC13 OMIM OMIM:613857 one_to_one -MONDO:0013466 OFC13 UMLS UMLS:C3151222 one_to_one +MONDO:0013466 orofacial cleft 13 MONDO MONDO:0021128 has_modifier +MONDO:0013466 orofacial cleft 13 MONDO MONDO:0000358 subclass +MONDO:0013466 orofacial cleft 13 OMIM OMIM:613857 one_to_one +MONDO:0013466 orofacial cleft 13 UMLS UMLS:C3151222 one_to_one MONDO:0013467 immunodeficiency due to ficolin3 deficiency ICD10 ICD10:D84.1 inexact MONDO:0013467 immunodeficiency due to ficolin3 deficiency MONDO MONDO:0044209 subclass MONDO:0013467 immunodeficiency due to ficolin3 deficiency OMIM OMIM:613860 one_to_one @@ -81245,7 +81415,7 @@ MONDO:0013483 obesity, hyperphagia, and developmental delay OMIM OMIM:613886 one MONDO:0013483 obesity, hyperphagia, and developmental delay UMLS UMLS:C3151303 one_to_one MONDO:0013483 obesity, hyperphagia, and developmental delay http http://identifiers.org/hgnc/8032 disease_has_basis_in_dysfunction_of MONDO:0013484 cataract 36 DOID DOID:0110247 one_to_one -MONDO:0013484 cataract 36 MONDO MONDO:0003847,MONDO:0005129,MONDO:0020224 subclass +MONDO:0013484 cataract 36 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005129,MONDO:0020224 subclass MONDO:0013484 cataract 36 OMIM OMIM:613887 one_to_one MONDO:0013484 cataract 36 UMLS UMLS:C3151304 one_to_one MONDO:0013484 cataract 36 http http://identifiers.org/hgnc/30831 disease_has_basis_in_dysfunction_of @@ -81355,7 +81525,7 @@ MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b- MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 OMIM OMIM:613960 one_to_one MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 UMLS UMLS:C3151409 one_to_one MONDO:0013507 granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type 3 http http://identifiers.org/hgnc/7662 disease_has_basis_in_dysfunction_of -MONDO:0013508 MYP19 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0013508 MYP19 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0013508 MYP19 OMIM OMIM:613969 one_to_one MONDO:0013508 MYP19 UMLS UMLS:C3151410 one_to_one MONDO:0013509 intellectual disability, autosomal dominant 6 DOID DOID:0070036 one_to_one @@ -81499,11 +81669,11 @@ MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency Orpha MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency SCTID SCTID:720940008 one_to_one MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency UMLS UMLS:C3151466 one_to_one MONDO:0013533 hyperlipidemia due to hepatic triglyceride lipase deficiency http http://identifiers.org/hgnc/6619 disease_has_basis_in_dysfunction_of -MONDO:0013534 apolipoprotein c-Iii deficiency MESH MESH:C566270 one_to_one -MONDO:0013534 apolipoprotein c-Iii deficiency MONDO MONDO:0007744 subclass -MONDO:0013534 apolipoprotein c-Iii deficiency OMIM OMIM:614028 one_to_one -MONDO:0013534 apolipoprotein c-Iii deficiency UMLS UMLS:C3151467 one_to_one -MONDO:0013534 apolipoprotein c-Iii deficiency http http://identifiers.org/hgnc/610 disease_has_basis_in_dysfunction_of +MONDO:0013534 apolipoprotein c-III deficiency MESH MESH:C566270 one_to_one +MONDO:0013534 apolipoprotein c-III deficiency MONDO MONDO:0007744 subclass +MONDO:0013534 apolipoprotein c-III deficiency OMIM OMIM:614028 one_to_one +MONDO:0013534 apolipoprotein c-III deficiency UMLS UMLS:C3151467 one_to_one +MONDO:0013534 apolipoprotein c-III deficiency http http://identifiers.org/hgnc/610 disease_has_basis_in_dysfunction_of MONDO:0013535 hydroxyacyl glutathione hydrolase deficiency MESH MESH:C564215 one_to_one MONDO:0013535 hydroxyacyl glutathione hydrolase deficiency MONDO MONDO:0003847 subclass MONDO:0013535 hydroxyacyl glutathione hydrolase deficiency OMIM OMIM:614033 one_to_one @@ -81754,7 +81924,7 @@ MONDO:0013577 Lipedema (disease) Orphanet Orphanet:77243 one_to_one MONDO:0013577 Lipedema (disease) SCTID SCTID:234102003 one_to_one MONDO:0013578 DYRK1A-related intellectual disability syndrome DOID DOID:0070037 one_to_one MONDO:0013578 DYRK1A-related intellectual disability syndrome MONDO MONDO:0015802 excluded_subClassOf -MONDO:0013578 DYRK1A-related intellectual disability syndrome MONDO MONDO:0000426,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass +MONDO:0013578 DYRK1A-related intellectual disability syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass MONDO:0013578 DYRK1A-related intellectual disability syndrome OMIM OMIM:614104 one_to_one MONDO:0013578 DYRK1A-related intellectual disability syndrome Orphanet Orphanet:464306 one_to_one MONDO:0013578 DYRK1A-related intellectual disability syndrome UMLS UMLS:C3279839 one_to_one @@ -81912,10 +82082,10 @@ MONDO:0013602 paragangliomas 5 MONDO MONDO:0000448,MONDO:0002095,MONDO:0002367,M MONDO:0013602 paragangliomas 5 OMIM OMIM:614165 one_to_one MONDO:0013602 paragangliomas 5 UMLS UMLS:C3279992 one_to_one MONDO:0013602 paragangliomas 5 http http://identifiers.org/hgnc/10680 disease_has_basis_in_dysfunction_of -MONDO:0013603 MYP20 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0013603 MYP20 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0013603 MYP20 OMIM OMIM:614166 one_to_one MONDO:0013603 MYP20 UMLS UMLS:C3279996 one_to_one -MONDO:0013604 myopia 21, autosomal dominant MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0013604 myopia 21, autosomal dominant MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0013604 myopia 21, autosomal dominant OMIM OMIM:614167 one_to_one MONDO:0013604 myopia 21, autosomal dominant UMLS UMLS:C3279997 one_to_one MONDO:0013604 myopia 21, autosomal dominant http http://identifiers.org/hgnc/29222 disease_has_basis_in_dysfunction_of @@ -82123,7 +82293,7 @@ MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 UMLS UMLS:C3280226 o MONDO:0013645 autosomal recessive spinocerebellar ataxia 11 http http://identifiers.org/hgnc/23143 disease_has_basis_in_dysfunction_of MONDO:0013646 chromosome 8q21.11 deletion syndrome DOID DOID:0060425 one_to_one MONDO:0013646 chromosome 8q21.11 deletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0013646 chromosome 8q21.11 deletion syndrome MONDO MONDO:0000761,MONDO:0015159,MONDO:0015983,MONDO:0016907,MONDO:0043005 subclass +MONDO:0013646 chromosome 8q21.11 deletion syndrome MONDO MONDO:0000761,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016907,MONDO:0043005 subclass MONDO:0013646 chromosome 8q21.11 deletion syndrome OMIM OMIM:614230 one_to_one MONDO:0013646 chromosome 8q21.11 deletion syndrome Orphanet Orphanet:284160 one_to_one MONDO:0013646 chromosome 8q21.11 deletion syndrome SCTID SCTID:718615003 one_to_one @@ -82289,7 +82459,7 @@ MONDO:0013675 multiple mitochondrial dysfunctions syndrome 2 http http://identif MONDO:0013676 hypermethioninemia due to adenosine kinase deficiency DOID DOID:0111038 one_to_one MONDO:0013676 hypermethioninemia due to adenosine kinase deficiency ICD10 ICD10:E72.1 inexact MONDO:0013676 hypermethioninemia due to adenosine kinase deficiency MESH MESH:C567015 one_to_one -MONDO:0013676 hypermethioninemia due to adenosine kinase deficiency MONDO MONDO:0000351,MONDO:0019058,MONDO:0019213,MONDO:0019222 subclass +MONDO:0013676 hypermethioninemia due to adenosine kinase deficiency MONDO MONDO:0000351,MONDO:0019058,MONDO:0019213 subclass MONDO:0013676 hypermethioninemia due to adenosine kinase deficiency OMIM OMIM:614300 one_to_one MONDO:0013676 hypermethioninemia due to adenosine kinase deficiency Orphanet Orphanet:289290 one_to_one MONDO:0013676 hypermethioninemia due to adenosine kinase deficiency UMLS UMLS:C3280381 one_to_one @@ -82387,7 +82557,7 @@ MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 MONDO MONDO:000 MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 OMIM OMIM:614331 one_to_one MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 UMLS UMLS:C1860896 one_to_one MONDO:0013695 colorectal cancer, hereditary nonpolyposis, type 6 http http://identifiers.org/hgnc/11773 disease_has_basis_in_dysfunction_of -MONDO:0013696 chromosome 2P16.3 deletion syndrome MONDO MONDO:0000761,MONDO:0005090,MONDO:0019117 subclass +MONDO:0013696 chromosome 2P16.3 deletion syndrome MONDO MONDO:0000761,MONDO:0002320,MONDO:0005090,MONDO:0019117 subclass MONDO:0013696 chromosome 2P16.3 deletion syndrome OMIM OMIM:614332 one_to_one MONDO:0013696 chromosome 2P16.3 deletion syndrome UMLS UMLS:C3808494 one_to_one MONDO:0013696 chromosome 2P16.3 deletion syndrome http http://identifiers.org/hgnc/8008 disease_has_basis_in_dysfunction_of @@ -82501,7 +82671,7 @@ MONDO:0013721 complement component 4a deficiency UMLS UMLS:C3280642 one_to_one MONDO:0013721 complement component 4a deficiency http http://identifiers.org/hgnc/1323 disease_has_basis_in_dysfunction_of MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism DOID DOID:0060797 one_to_one MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism ICD10 ICD10:G11.1 inexact -MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO MONDO:0019046,MONDO:0019505 subclass +MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism MONDO MONDO:0002320,MONDO:0019046,MONDO:0019505 subclass MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism OMIM OMIM:614381 one_to_one MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism UMLS UMLS:C3280644 one_to_one MONDO:0013722 hypomyelinating leukodystrophy 8 with or without oligodontia and-or hypogonadotropic hypogonadism http http://identifiers.org/hgnc/30348 disease_has_basis_in_dysfunction_of @@ -82517,7 +82687,7 @@ MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 OMIM OMIM:61438 MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 UMLS UMLS:C1858380 one_to_one MONDO:0013725 colorectal cancer, hereditary nonpolyposis, type 7 http http://identifiers.org/hgnc/7128 disease_has_basis_in_dysfunction_of MONDO:0013726 lethal encephalopathy due to mitochondrial and peroxisomal fission defect ICD10 ICD10:G31.8 inexact -MONDO:0013726 lethal encephalopathy due to mitochondrial and peroxisomal fission defect MONDO MONDO:0015960,MONDO:0016799,MONDO:0019058 subclass +MONDO:0013726 lethal encephalopathy due to mitochondrial and peroxisomal fission defect MONDO MONDO:0002320,MONDO:0015960,MONDO:0016799,MONDO:0019058 subclass MONDO:0013726 lethal encephalopathy due to mitochondrial and peroxisomal fission defect OMIM OMIM:614388 one_to_one MONDO:0013726 lethal encephalopathy due to mitochondrial and peroxisomal fission defect Orphanet Orphanet:330050 one_to_one MONDO:0013726 lethal encephalopathy due to mitochondrial and peroxisomal fission defect UMLS UMLS:C3280660 one_to_one @@ -82690,7 +82860,7 @@ MONDO:0013759 MITF-related melanoma and renal cell carcinoma predisposition synd MONDO:0013759 MITF-related melanoma and renal cell carcinoma predisposition syndrome Orphanet Orphanet:293822 one_to_one MONDO:0013759 MITF-related melanoma and renal cell carcinoma predisposition syndrome http http://identifiers.org/hgnc/7105 disease_has_basis_in_dysfunction_of MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome ICD10 ICD10:Q80.8 inexact -MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO MONDO:0015905,MONDO:0017272,MONDO:0018118,MONDO:0019058 subclass +MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO MONDO:0002320,MONDO:0015905,MONDO:0017272,MONDO:0018118,MONDO:0019058 subclass MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome OMIM OMIM:614457 one_to_one MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome Orphanet Orphanet:352333 one_to_one MONDO:0013760 congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome UMLS UMLS:C3280856 one_to_one @@ -82911,7 +83081,7 @@ MONDO:0013801 epileptic encephalopathy, early infantile, 13 http http://identifi MONDO:0013802 infantile cerebellar-retinal degeneration DOID DOID:0050883 one_to_one MONDO:0013802 infantile cerebellar-retinal degeneration GARD GARD:0013264 one_to_one MONDO:0013802 infantile cerebellar-retinal degeneration ICD10 ICD10:E88.8 inexact -MONDO:0013802 infantile cerebellar-retinal degeneration MONDO MONDO:0004589,MONDO:0004884,MONDO:0016790,MONDO:0019058,MONDO:0019213,MONDO:0024237 subclass +MONDO:0013802 infantile cerebellar-retinal degeneration MONDO MONDO:0004884,MONDO:0016790,MONDO:0019058,MONDO:0019118,MONDO:0019213,MONDO:0024237 subclass MONDO:0013802 infantile cerebellar-retinal degeneration OMIM OMIM:614559 one_to_one MONDO:0013802 infantile cerebellar-retinal degeneration Orphanet Orphanet:313850 one_to_one MONDO:0013802 infantile cerebellar-retinal degeneration UMLS UMLS:C3281192 one_to_one @@ -83107,11 +83277,12 @@ MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease s MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome Orphanet Orphanet:319678 one_to_one MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome UMLS UMLS:C3553374 one_to_one MONDO:0013840 encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome http http://identifiers.org/hgnc/25302 disease_has_basis_in_dysfunction_of -MONDO:0013841 STUT3 MONDO MONDO:0000723,MONDO:0003847,MONDO:0019117 subclass +MONDO:0013841 STUT3 MONDO MONDO:0000723,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0013841 STUT3 OMIM OMIM:614655 one_to_one MONDO:0013841 STUT3 UMLS UMLS:C3553381 one_to_one MONDO:0013842 cortisone reductase deficiency 2 DOID DOID:0090140 one_to_one -MONDO:0013842 cortisone reductase deficiency 2 MONDO MONDO:0000193,MONDO:0015676 subclass +MONDO:0013842 cortisone reductase deficiency 2 GO GO:0003845 disease_has_basis_in_disruption_of +MONDO:0013842 cortisone reductase deficiency 2 MONDO MONDO:0000193 subclass MONDO:0013842 cortisone reductase deficiency 2 NCIT NCIT:C131084 one_to_one MONDO:0013842 cortisone reductase deficiency 2 OMIM OMIM:614662 one_to_one MONDO:0013842 cortisone reductase deficiency 2 UMLS UMLS:C3553382 one_to_one @@ -83124,7 +83295,7 @@ MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency Orphanet Orphanet:314376 one_to_one MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency SCTID SCTID:206523001 one_to_one MONDO:0013843 intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency http http://identifiers.org/hgnc/4688 disease_has_basis_in_dysfunction_of -MONDO:0013844 STUT4 MONDO MONDO:0000723,MONDO:0003847,MONDO:0019117 subclass +MONDO:0013844 STUT4 MONDO MONDO:0000723,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0013844 STUT4 OMIM OMIM:614668 one_to_one MONDO:0013844 STUT4 UMLS UMLS:C3553403 one_to_one MONDO:0013845 auriculocondylar syndrome 2 MONDO MONDO:0000107 subclass @@ -83136,7 +83307,7 @@ MONDO:0013846 peripartum cardiomyopathy, susceptibility to OMIM OMIM:614670 one_ MONDO:0013847 chromosome 16p11.2 duplication syndrome DOID DOID:0060430 one_to_one MONDO:0013847 chromosome 16p11.2 duplication syndrome GARD GARD:0012388 one_to_one MONDO:0013847 chromosome 16p11.2 duplication syndrome ICD10 ICD10:Q92.3 inexact -MONDO:0013847 chromosome 16p11.2 duplication syndrome MONDO MONDO:0000762,MONDO:0015983,MONDO:0016949 subclass +MONDO:0013847 chromosome 16p11.2 duplication syndrome MONDO MONDO:0000762,MONDO:0002320,MONDO:0015983,MONDO:0016949 subclass MONDO:0013847 chromosome 16p11.2 duplication syndrome OMIM OMIM:614671 one_to_one MONDO:0013847 chromosome 16p11.2 duplication syndrome Orphanet Orphanet:370079 one_to_one MONDO:0013847 chromosome 16p11.2 duplication syndrome UMLS UMLS:C3553407 one_to_one @@ -83355,13 +83526,13 @@ MONDO:0013887 heterotaxy, visceral, 6, autosomal MONDO MONDO:0003847,MONDO:00159 MONDO:0013887 heterotaxy, visceral, 6, autosomal OMIM OMIM:614779 one_to_one MONDO:0013887 heterotaxy, visceral, 6, autosomal UMLS UMLS:C3553676 one_to_one MONDO:0013887 heterotaxy, visceral, 6, autosomal http http://identifiers.org/hgnc/26530 disease_has_basis_in_dysfunction_of -MONDO:0013888 tremor, hereditary essential, 4 MONDO MONDO:0003233,MONDO:0003847,MONDO:0015957 subclass +MONDO:0013888 tremor, hereditary essential, 4 MONDO MONDO:0002320,MONDO:0003233,MONDO:0003847,MONDO:0015957 subclass MONDO:0013888 tremor, hereditary essential, 4 OMIM OMIM:614782 one_to_one MONDO:0013888 tremor, hereditary essential, 4 UMLS UMLS:C3539195 one_to_one MONDO:0013888 tremor, hereditary essential, 4 http http://identifiers.org/hgnc/4010 disease_has_basis_in_dysfunction_of MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome GARD GARD:0010945 one_to_one MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome ICD10 ICD10:Q87.1 inexact -MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome MONDO MONDO:0015329,MONDO:0015960,MONDO:0018609 subclass +MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome MONDO MONDO:0002320,MONDO:0015329,MONDO:0015960,MONDO:0018609 subclass MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome OMIM OMIM:614800 one_to_one MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome Orphanet Orphanet:391677 one_to_one MONDO:0013889 short stature-optic atrophy-Pelger-HuC+t anomaly syndrome UMLS UMLS:C3541319 one_to_one @@ -83514,7 +83685,7 @@ MONDO:0013918 distal tetrasomy 15q MONDO MONDO:0017806 subclass MONDO:0013918 distal tetrasomy 15q OMIM OMIM:614846 one_to_one MONDO:0013918 distal tetrasomy 15q Orphanet Orphanet:314588 one_to_one MONDO:0013918 distal tetrasomy 15q UMLS UMLS:C3553858,UMLS:CN203770 inexact -MONDO:0013919 epilepsy, idiopathic generalized, susceptibility to, 12 MONDO MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass +MONDO:0013919 epilepsy, idiopathic generalized, susceptibility to, 12 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass MONDO:0013919 epilepsy, idiopathic generalized, susceptibility to, 12 OMIM OMIM:614847 one_to_one MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 MONDO MONDO:0012521 subclass MONDO:0013920 herpes simplex encephalitis, susceptibility to, 3 OMIM OMIM:614849 one_to_one @@ -83768,7 +83939,7 @@ MONDO:0013968 PGM1-CDG OMIM OMIM:614921 one_to_one MONDO:0013968 PGM1-CDG Orphanet Orphanet:319646 one_to_one MONDO:0013968 PGM1-CDG UMLS UMLS:C2752015 one_to_one MONDO:0013969 combined oxidative phosphorylation defect type 11 ICD10 ICD10:G31.8 inexact -MONDO:0013969 combined oxidative phosphorylation defect type 11 MONDO MONDO:0000732,MONDO:0015960,MONDO:0018157,MONDO:0019058 subclass +MONDO:0013969 combined oxidative phosphorylation defect type 11 MONDO MONDO:0000732,MONDO:0002320,MONDO:0015960,MONDO:0018157,MONDO:0019058 subclass MONDO:0013969 combined oxidative phosphorylation defect type 11 OMIM OMIM:614922 one_to_one MONDO:0013969 combined oxidative phosphorylation defect type 11 Orphanet Orphanet:324535 one_to_one MONDO:0013969 combined oxidative phosphorylation defect type 11 UMLS UMLS:C3554067 one_to_one @@ -83958,7 +84129,7 @@ MONDO:0014005 immunoglobulin-mediated membranoproliferative glomerulonephritis h MONDO:0014006 intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome DOID DOID:0070047 one_to_one MONDO:0014006 intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome GARD GARD:0013043 one_to_one MONDO:0014006 intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome MONDO MONDO:0015802 excluded_subClassOf -MONDO:0014006 intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome MONDO MONDO:0000426,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass +MONDO:0014006 intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass MONDO:0014006 intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome NCIT NCIT:C150555 one_to_one MONDO:0014006 intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome OMIM OMIM:615009 one_to_one MONDO:0014006 intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Orphanet Orphanet:329224 one_to_one @@ -84127,7 +84298,7 @@ MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome GARD GARD:0012815 one_to_one MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome ICD10 ICD10:Q87.8 inexact MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome MONDO MONDO:0015802 excluded_subClassOf -MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome MONDO MONDO:0000426,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass +MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome OMIM OMIM:615074 one_to_one MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome Orphanet Orphanet:363686 one_to_one MONDO:0014034 severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome UMLS UMLS:C3554448 one_to_one @@ -84136,7 +84307,7 @@ MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndro MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome GARD GARD:0003505 one_to_one MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome ICD10 ICD10:G11.4 inexact MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome MONDO MONDO:0015802 excluded_subClassOf -MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome MONDO MONDO:0000426,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass +MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome OMIM OMIM:615075 one_to_one MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome Orphanet Orphanet:404473 one_to_one MONDO:0014035 severe intellectual disability-progressive spastic diplegia syndrome UMLS UMLS:C3554449 one_to_one @@ -84247,7 +84418,7 @@ MONDO:0014059 microphthalmia, isolated, with coloboma 9 OMIM OMIM:615145 one_to_ MONDO:0014059 microphthalmia, isolated, with coloboma 9 UMLS UMLS:C3554592 one_to_one MONDO:0014059 microphthalmia, isolated, with coloboma 9 http http://identifiers.org/hgnc/29944 disease_has_basis_in_dysfunction_of MONDO:0014060 progressive retinal dystrophy due to retinol transport defect ICD10 ICD10:H35.5 inexact -MONDO:0014060 progressive retinal dystrophy due to retinol transport defect MONDO MONDO:0004589,MONDO:0017760 subclass +MONDO:0014060 progressive retinal dystrophy due to retinol transport defect MONDO MONDO:0017760,MONDO:0019118 subclass MONDO:0014060 progressive retinal dystrophy due to retinol transport defect OMIM OMIM:615147 one_to_one MONDO:0014060 progressive retinal dystrophy due to retinol transport defect Orphanet Orphanet:352718 one_to_one MONDO:0014060 progressive retinal dystrophy due to retinol transport defect UMLS UMLS:C3554593 one_to_one @@ -84285,7 +84456,7 @@ MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 OMIM OMIM:6151 MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 UMLS UMLS:C3554608 one_to_one MONDO:0014066 mitochondrial complex III deficiency nuclear type 5 http http://identifiers.org/hgnc/12586 disease_has_basis_in_dysfunction_of MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome OMIM OMIM:615162 one_to_one MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome Orphanet Orphanet:357175 one_to_one MONDO:0014067 short ulna-dysmorphism-hypotonia-intellectual disability syndrome UMLS UMLS:C3554609 one_to_one @@ -84355,7 +84526,7 @@ MONDO:0014078 platelet-type bleeding disorder 15 MONDO MONDO:0000009,MONDO:00153 MONDO:0014078 platelet-type bleeding disorder 15 OMIM OMIM:615193 one_to_one MONDO:0014078 platelet-type bleeding disorder 15 UMLS UMLS:C3554663 one_to_one MONDO:0014078 platelet-type bleeding disorder 15 http http://identifiers.org/hgnc/163 disease_has_basis_in_dysfunction_of -MONDO:0014079 RLS8 MONDO MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass +MONDO:0014079 RLS8 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005391,MONDO:0019117 subclass MONDO:0014079 RLS8 OMIM OMIM:615197 one_to_one MONDO:0014080 osteosclerotic metaphyseal dysplasia MONDO MONDO:0015958,MONDO:0015960,MONDO:0017198,MONDO:0042973 subclass MONDO:0014080 osteosclerotic metaphyseal dysplasia OMIM OMIM:615198 one_to_one @@ -84403,7 +84574,7 @@ MONDO:0014088 advanced sleep phase syndrome 2 OMIM OMIM:615224 one_to_one MONDO:0014088 advanced sleep phase syndrome 2 UMLS UMLS:C3808874 one_to_one MONDO:0014088 advanced sleep phase syndrome 2 http http://identifiers.org/hgnc/2452 disease_has_basis_in_dysfunction_of MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome ICD10 ICD10:Q82.8 inexact -MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome MONDO MONDO:0020094,MONDO:0020212 subclass +MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome MONDO MONDO:0002320,MONDO:0020094,MONDO:0020212 subclass MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome OMIM OMIM:615225 one_to_one MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome Orphanet Orphanet:352662 one_to_one MONDO:0014089 corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome UMLS UMLS:CN204511 one_to_one @@ -84517,7 +84688,7 @@ MONDO:0014109 NGLY1-deficiency DOID DOID:0060728 one_to_one MONDO:0014109 NGLY1-deficiency GARD GARD:0012315 one_to_one MONDO:0014109 NGLY1-deficiency GO GO:0006517 disease_has_basis_in_disruption_of MONDO:0014109 NGLY1-deficiency ICD10 ICD10:E77.8 inexact -MONDO:0014109 NGLY1-deficiency MONDO MONDO:0015983,MONDO:0019214,MONDO:0019602,MONDO:0045010 subclass +MONDO:0014109 NGLY1-deficiency MONDO MONDO:0002320,MONDO:0015983,MONDO:0019214,MONDO:0019602,MONDO:0045010 subclass MONDO:0014109 NGLY1-deficiency NCIT NCIT:C126746 one_to_one MONDO:0014109 NGLY1-deficiency OMIM OMIM:615273 one_to_one MONDO:0014109 NGLY1-deficiency Orphanet Orphanet:404454 one_to_one @@ -84554,7 +84725,7 @@ MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and le MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity UMLS UMLS:C3809008 one_to_one MONDO:0014115 hypomyelination with brain stem and spinal cord involvement and leg spasticity http http://identifiers.org/hgnc/2678 disease_has_basis_in_dysfunction_of MONDO:0014116 complex cortical dysplasia with other brain malformations 2 DOID DOID:0090133 one_to_one -MONDO:0014116 complex cortical dysplasia with other brain malformations 2 MONDO MONDO:0000904,MONDO:0003847,MONDO:0019117 subclass +MONDO:0014116 complex cortical dysplasia with other brain malformations 2 MONDO MONDO:0000904,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0014116 complex cortical dysplasia with other brain malformations 2 OMIM OMIM:615282 one_to_one MONDO:0014116 complex cortical dysplasia with other brain malformations 2 UMLS UMLS:C3809013 one_to_one MONDO:0014116 complex cortical dysplasia with other brain malformations 2 http http://identifiers.org/hgnc/6325 disease_has_basis_in_dysfunction_of @@ -84633,7 +84804,7 @@ MONDO:0014130 Dowling-Degos disease 2 OMIM OMIM:615327 one_to_one MONDO:0014130 Dowling-Degos disease 2 UMLS UMLS:C3809147 one_to_one MONDO:0014130 Dowling-Degos disease 2 http http://identifiers.org/hgnc/14988 disease_has_basis_in_dysfunction_of MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome ICD10 ICD10:Q82.8 inexact -MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO MONDO:0015983,MONDO:0017671,MONDO:0020014 subclass +MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0017671,MONDO:0020014 subclass MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome OMIM OMIM:615328 one_to_one MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome Orphanet Orphanet:363523 one_to_one MONDO:0014131 hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome UMLS UMLS:C3809160 one_to_one @@ -84727,7 +84898,7 @@ MONDO:0014148 estrogen resistance syndrome Orphanet Orphanet:785 one_to_one MONDO:0014148 estrogen resistance syndrome UMLS UMLS:C3809250 one_to_one MONDO:0014148 estrogen resistance syndrome http http://identifiers.org/hgnc/3467 disease_has_basis_in_dysfunction_of MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome ICD10 ICD10:G71.2 inexact -MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome MONDO MONDO:0017436,MONDO:0019952 subclass +MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome MONDO MONDO:0002320,MONDO:0017436,MONDO:0019952 subclass MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome OMIM OMIM:615368 one_to_one MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome Orphanet Orphanet:363409 one_to_one MONDO:0014149 fetal akinesia-cerebral and retinal hemorrhage syndrome UMLS UMLS:C3809272 one_to_one @@ -84813,7 +84984,7 @@ MONDO:0014164 Meckel syndrome, type 11 UMLS UMLS:C3809352 one_to_one MONDO:0014164 Meckel syndrome, type 11 http http://identifiers.org/hgnc/37234 disease_has_basis_in_dysfunction_of MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 DOID DOID:0080140 one_to_one MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 ICD10 ICD10:Q87.8 inexact -MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO MONDO:0015159,MONDO:0015905,MONDO:0015983,MONDO:0017748,MONDO:0018292,MONDO:0019699,MONDO:0043005 subclass +MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 MONDO MONDO:0002320,MONDO:0015159,MONDO:0015905,MONDO:0015983,MONDO:0017748,MONDO:0018292,MONDO:0019699,MONDO:0043005 subclass MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 OMIM OMIM:615398 one_to_one MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 Orphanet Orphanet:369837 one_to_one MONDO:0014165 multiple congenital anomalies-hypotonia-seizures syndrome 3 UMLS UMLS:C3809356 one_to_one @@ -84838,12 +85009,12 @@ MONDO:0014169 dyschromatosis universalis hereditaria 3 OMIM OMIM:615402 one_to_o MONDO:0014169 dyschromatosis universalis hereditaria 3 UMLS UMLS:C3809394 one_to_one MONDO:0014169 dyschromatosis universalis hereditaria 3 http http://identifiers.org/hgnc/47 disease_has_basis_in_dysfunction_of MONDO:0014170 complex cortical dysplasia with other brain malformations 3 DOID DOID:0090134 one_to_one -MONDO:0014170 complex cortical dysplasia with other brain malformations 3 MONDO MONDO:0000904,MONDO:0003847,MONDO:0019117 subclass +MONDO:0014170 complex cortical dysplasia with other brain malformations 3 MONDO MONDO:0000904,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0014170 complex cortical dysplasia with other brain malformations 3 OMIM OMIM:615411 one_to_one MONDO:0014170 complex cortical dysplasia with other brain malformations 3 UMLS UMLS:C3809414 one_to_one MONDO:0014170 complex cortical dysplasia with other brain malformations 3 http http://identifiers.org/hgnc/6318 disease_has_basis_in_dysfunction_of MONDO:0014171 complex cortical dysplasia with other brain malformations 4 DOID DOID:0090138 one_to_one -MONDO:0014171 complex cortical dysplasia with other brain malformations 4 MONDO MONDO:0000904,MONDO:0003847,MONDO:0019117 subclass +MONDO:0014171 complex cortical dysplasia with other brain malformations 4 MONDO MONDO:0000904,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0014171 complex cortical dysplasia with other brain malformations 4 OMIM OMIM:615412 one_to_one MONDO:0014171 complex cortical dysplasia with other brain malformations 4 UMLS UMLS:C3809420 one_to_one MONDO:0014171 complex cortical dysplasia with other brain malformations 4 http http://identifiers.org/hgnc/12417 disease_has_basis_in_dysfunction_of @@ -84868,7 +85039,7 @@ MONDO:0014175 mitochondrial DNA depletion syndrome 12 http http://identifiers.or MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies DC DC:0000718 one_to_one MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies MONDO MONDO:0018297 subclass MONDO:0014176 hypotonia, infantile, with psychomotor retardation and characteristic facies OMIMPS OMIMPS:615419 one_to_one -MONDO:0014177 myopia 22, autosomal dominant MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0014177 myopia 22, autosomal dominant MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0014177 myopia 22, autosomal dominant OMIM OMIM:615420 one_to_one MONDO:0014177 myopia 22, autosomal dominant UMLS UMLS:C3809464 one_to_one MONDO:0014177 myopia 22, autosomal dominant http http://identifiers.org/hgnc/26575 disease_has_basis_in_dysfunction_of @@ -84903,7 +85074,7 @@ MONDO:0014183 myopia 23, autosomal recessive UMLS UMLS:C3809482 one_to_one MONDO:0014183 myopia 23, autosomal recessive http http://identifiers.org/hgnc/6701 disease_has_basis_in_dysfunction_of MONDO:0014184 language impairment (disease) EFO EFO:0005425 one_to_one MONDO:0014184 language impairment (disease) HP HP:0002463 one_to_one -MONDO:0014184 language impairment (disease) MONDO MONDO:0000724,MONDO:0003847,MONDO:0019117 subclass +MONDO:0014184 language impairment (disease) MONDO MONDO:0000724,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0014184 language impairment (disease) OMIM OMIM:615432 one_to_one MONDO:0014184 language impairment (disease) UMLS UMLS:C3809483 one_to_one MONDO:0014184 language impairment (disease) http http://identifiers.org/hgnc/26230 disease_has_basis_in_dysfunction_of @@ -84925,7 +85096,7 @@ MONDO:0014187 aortic aneurysm, familial thoracic 8 OMIM OMIM:615436 one_to_one MONDO:0014187 aortic aneurysm, familial thoracic 8 UMLS UMLS:C3809513 one_to_one MONDO:0014187 aortic aneurysm, familial thoracic 8 http http://identifiers.org/hgnc/9414 disease_has_basis_in_dysfunction_of MONDO:0014189 age related macular degeneration 13 DOID DOID:0110025 one_to_one -MONDO:0014189 age related macular degeneration 13 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0014189 age related macular degeneration 13 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0014189 age related macular degeneration 13 OMIM OMIM:615439 one_to_one MONDO:0014189 age related macular degeneration 13 UMLS UMLS:C3809523 one_to_one MONDO:0014189 age related macular degeneration 13 http http://identifiers.org/hgnc/5394 disease_has_basis_in_dysfunction_of @@ -85019,7 +85190,7 @@ MONDO:0014204 basal ganglia calcification, idiopathic, 5 OMIM OMIM:615483 one_to MONDO:0014204 basal ganglia calcification, idiopathic, 5 UMLS UMLS:C3809645 one_to_one MONDO:0014204 basal ganglia calcification, idiopathic, 5 http http://identifiers.org/hgnc/8800 disease_has_basis_in_dysfunction_of MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome ICD10 ICD10:Q87.0 inexact -MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome OMIM OMIM:615485 one_to_one MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome Orphanet Orphanet:352577 one_to_one MONDO:0014205 severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome UMLS UMLS:C3809650 one_to_one @@ -85031,7 +85202,7 @@ MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS defi MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency UMLS UMLS:C3809651 one_to_one MONDO:0014206 severe early-onset pulmonary alveolar proteinosis due to MARS deficiency http http://identifiers.org/hgnc/6898 disease_has_basis_in_dysfunction_of MONDO:0014207 age related macular degeneration 14 DOID DOID:0110026 one_to_one -MONDO:0014207 age related macular degeneration 14 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0014207 age related macular degeneration 14 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0014207 age related macular degeneration 14 OMIM OMIM:615489 one_to_one MONDO:0014207 age related macular degeneration 14 http http://identifiers.org/hgnc/1037,http://identifiers.org/hgnc/1248 disease_has_basis_in_dysfunction_of MONDO:0014208 Charcot-Marie-tooth disease type 2R DOID DOID:0110161 one_to_one @@ -85043,7 +85214,7 @@ MONDO:0014208 Charcot-Marie-tooth disease type 2R Orphanet Orphanet:397968 one_t MONDO:0014208 Charcot-Marie-tooth disease type 2R UMLS UMLS:C3809655 one_to_one MONDO:0014208 Charcot-Marie-tooth disease type 2R http http://identifiers.org/hgnc/15974 disease_has_basis_in_dysfunction_of MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome ICD10 ICD10:G31.8 inexact -MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO MONDO:0004884,MONDO:0015150,MONDO:0018609 subclass +MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome MONDO MONDO:0001835,MONDO:0004884,MONDO:0015150,MONDO:0018609 subclass MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome OMIM OMIM:615491 one_to_one MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome Orphanet Orphanet:352654 one_to_one MONDO:0014209 early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome UMLS UMLS:C3809665 one_to_one @@ -85072,7 +85243,7 @@ MONDO:0014212 sulfite oxidase deficiency due to molybdenum cofactor deficiency t MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome DOID DOID:0070051 one_to_one MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome ICD10 ICD10:Q87.8 inexact MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome MONDO MONDO:0015802 excluded_subClassOf -MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome MONDO MONDO:0000426,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass +MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome OMIM OMIM:615502 one_to_one MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome Orphanet Orphanet:363611 one_to_one MONDO:0014213 intellectual disability-feeding difficulties-developmental delay-microcephaly syndrome UMLS UMLS:C3809686 one_to_one @@ -85213,7 +85384,7 @@ MONDO:0014237 autosomal recessive nonsyndromic deafness 76 OMIM OMIM:615540 one_ MONDO:0014237 autosomal recessive nonsyndromic deafness 76 UMLS UMLS:C3147083 one_to_one MONDO:0014237 autosomal recessive nonsyndromic deafness 76 http http://identifiers.org/hgnc/26703 disease_has_basis_in_dysfunction_of MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome OMIM OMIM:615541 one_to_one MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome Orphanet Orphanet:391307 one_to_one MONDO:0014238 severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome UMLS UMLS:C3809853 one_to_one @@ -85279,7 +85450,7 @@ MONDO:0014249 multiple fibroadenoma of the breast UMLS UMLS:C3809918 one_to_one MONDO:0014249 multiple fibroadenoma of the breast http http://identifiers.org/hgnc/9446 disease_has_basis_in_dysfunction_of MONDO:0014250 familial hyperprolactinemia ICD10 ICD10:E22.1 inexact MONDO:0014250 familial hyperprolactinemia MONDO MONDO:0021152 has_modifier -MONDO:0014250 familial hyperprolactinemia MONDO MONDO:0005804,MONDO:0015889,MONDO:0015968,MONDO:0018405,MONDO:0018411,MONDO:0019052,MONDO:0019117 subclass +MONDO:0014250 familial hyperprolactinemia MONDO MONDO:0002320,MONDO:0005804,MONDO:0015889,MONDO:0015968,MONDO:0018405,MONDO:0018411,MONDO:0019052,MONDO:0019117 subclass MONDO:0014250 familial hyperprolactinemia OMIM OMIM:615555 one_to_one MONDO:0014250 familial hyperprolactinemia Orphanet Orphanet:397685 one_to_one MONDO:0014250 familial hyperprolactinemia http http://identifiers.org/hgnc/9446 disease_has_basis_in_dysfunction_of @@ -85320,7 +85491,7 @@ MONDO:0014257 nephrotic syndrome, type 9 OMIM OMIM:615573 one_to_one MONDO:0014257 nephrotic syndrome, type 9 UMLS UMLS:C3809965 one_to_one MONDO:0014257 nephrotic syndrome, type 9 http http://identifiers.org/hgnc/19041 disease_has_basis_in_dysfunction_of MONDO:0014258 congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome ICD10 ICD10:E72.8 inexact -MONDO:0014258 congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome MONDO MONDO:0018318,MONDO:0019058 subclass +MONDO:0014258 congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome MONDO MONDO:0002320,MONDO:0018318,MONDO:0019058 subclass MONDO:0014258 congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome OMIM OMIM:615574 one_to_one MONDO:0014258 congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome Orphanet Orphanet:391376 one_to_one MONDO:0014258 congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome UMLS UMLS:C3809971 one_to_one @@ -85333,7 +85504,7 @@ MONDO:0014260 immunodeficiency, common variable, 10 OMIM OMIM:615577 one_to_one MONDO:0014260 immunodeficiency, common variable, 10 UMLS UMLS:C3809991 one_to_one MONDO:0014260 immunodeficiency, common variable, 10 http http://identifiers.org/hgnc/7795 disease_has_basis_in_dysfunction_of MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome ICD10 ICD10:E88.8 inexact -MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MONDO MONDO:0000732,MONDO:0015960,MONDO:0016799,MONDO:0019058 subclass +MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome MONDO MONDO:0000732,MONDO:0002320,MONDO:0015960,MONDO:0016799,MONDO:0019058 subclass MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome OMIM OMIM:615578 one_to_one MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome Orphanet Orphanet:391348 one_to_one MONDO:0014261 growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome UMLS UMLS:C3810001 one_to_one @@ -85357,7 +85528,7 @@ MONDO:0014265 Alzheimer disease 18 OMIM OMIM:615590 one_to_one MONDO:0014265 Alzheimer disease 18 UMLS UMLS:C3810041 one_to_one MONDO:0014265 Alzheimer disease 18 http http://identifiers.org/hgnc/188 disease_has_basis_in_dysfunction_of MONDO:0014266 age related macular degeneration 15 DOID DOID:0110027 one_to_one -MONDO:0014266 age related macular degeneration 15 MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0014266 age related macular degeneration 15 MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0014266 age related macular degeneration 15 OMIM OMIM:615591 one_to_one MONDO:0014266 age related macular degeneration 15 UMLS UMLS:C3810042 one_to_one MONDO:0014266 age related macular degeneration 15 http http://identifiers.org/hgnc/1358 disease_has_basis_in_dysfunction_of @@ -85399,7 +85570,7 @@ MONDO:0014272 palmoplantar keratoderma, Nagashima type SCTID SCTID:722205008 one MONDO:0014272 palmoplantar keratoderma, Nagashima type UMLS UMLS:C3810072 one_to_one MONDO:0014272 palmoplantar keratoderma, Nagashima type http http://identifiers.org/hgnc/13902 disease_has_basis_in_dysfunction_of MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome OMIM OMIM:615599 one_to_one MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome Orphanet Orphanet:397951 one_to_one MONDO:0014273 microcephaly-thin corpus callosum-intellectual disability syndrome UMLS UMLS:C3810080 one_to_one @@ -85478,7 +85649,7 @@ MONDO:0014288 Joubert syndrome 21 OMIM OMIM:615636 one_to_one MONDO:0014288 Joubert syndrome 21 UMLS UMLS:C3810212 one_to_one MONDO:0014288 Joubert syndrome 21 http http://identifiers.org/hgnc/26193 disease_has_basis_in_dysfunction_of MONDO:0014289 macrocephaly-developmental delay syndrome ICD10 ICD10:Q75.3 one_to_one -MONDO:0014289 macrocephaly-developmental delay syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0014289 macrocephaly-developmental delay syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0014289 macrocephaly-developmental delay syndrome OMIM OMIM:615637 one_to_one MONDO:0014289 macrocephaly-developmental delay syndrome Orphanet Orphanet:397612 one_to_one MONDO:0014289 macrocephaly-developmental delay syndrome UMLS UMLS:C3810225 one_to_one @@ -85532,7 +85703,7 @@ MONDO:0014297 Joubert syndrome 22 OMIM OMIM:615665 one_to_one MONDO:0014297 Joubert syndrome 22 UMLS UMLS:C3810278 one_to_one MONDO:0014297 Joubert syndrome 22 http http://identifiers.org/hgnc/8788 disease_has_basis_in_dysfunction_of MONDO:0014298 chromosome 5q12 deletion syndrome DOID DOID:0060421 one_to_one -MONDO:0014298 chromosome 5q12 deletion syndrome MONDO MONDO:0000761,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass +MONDO:0014298 chromosome 5q12 deletion syndrome MONDO MONDO:0000761,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass MONDO:0014298 chromosome 5q12 deletion syndrome OMIM OMIM:615668 one_to_one MONDO:0014298 chromosome 5q12 deletion syndrome Orphanet Orphanet:439822 one_to_one MONDO:0014298 chromosome 5q12 deletion syndrome UMLS UMLS:C3810282 one_to_one @@ -85735,13 +85906,13 @@ MONDO:0014335 diffuse cerebral and cerebellar atrophy-intractable seizures-progr MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency DOID DOID:0070053 one_to_one MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency ICD10 ICD10:Q87.0 inexact MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO MONDO:0015802 excluded_subClassOf -MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO MONDO:0000426,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass +MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency OMIM OMIM:615761 one_to_one MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency Orphanet Orphanet:404440 one_to_one MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency UMLS UMLS:C3810406 one_to_one MONDO:0014336 intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency http http://identifiers.org/hgnc/25566 disease_has_basis_in_dysfunction_of MONDO:0014337 complex cortical dysplasia with other brain malformations 5 DOID DOID:0090135 one_to_one -MONDO:0014337 complex cortical dysplasia with other brain malformations 5 MONDO MONDO:0000904,MONDO:0003847,MONDO:0019117 subclass +MONDO:0014337 complex cortical dysplasia with other brain malformations 5 MONDO MONDO:0000904,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0014337 complex cortical dysplasia with other brain malformations 5 OMIM OMIM:615763 one_to_one MONDO:0014337 complex cortical dysplasia with other brain malformations 5 UMLS UMLS:C3810407 one_to_one MONDO:0014337 complex cortical dysplasia with other brain malformations 5 http http://identifiers.org/hgnc/12412 disease_has_basis_in_dysfunction_of @@ -85762,7 +85933,7 @@ MONDO:0014340 atrial fibrillation, familial, 15 OMIM OMIM:615770 one_to_one MONDO:0014340 atrial fibrillation, familial, 15 UMLS UMLS:C4014269 one_to_one MONDO:0014340 atrial fibrillation, familial, 15 http http://identifiers.org/hgnc/8063 disease_has_basis_in_dysfunction_of MONDO:0014341 complex cortical dysplasia with other brain malformations 6 DOID DOID:0090136 one_to_one -MONDO:0014341 complex cortical dysplasia with other brain malformations 6 MONDO MONDO:0000904,MONDO:0003847,MONDO:0019117 subclass +MONDO:0014341 complex cortical dysplasia with other brain malformations 6 MONDO MONDO:0000904,MONDO:0002320,MONDO:0003847,MONDO:0019117 subclass MONDO:0014341 complex cortical dysplasia with other brain malformations 6 OMIM OMIM:615771 one_to_one MONDO:0014341 complex cortical dysplasia with other brain malformations 6 UMLS UMLS:C4014283 one_to_one MONDO:0014341 complex cortical dysplasia with other brain malformations 6 http http://identifiers.org/hgnc/20778 disease_has_basis_in_dysfunction_of @@ -85824,7 +85995,7 @@ MONDO:0014352 abdominal obesity-metabolic syndrome 3 UMLS UMLS:C4014361 one_to_o MONDO:0014352 abdominal obesity-metabolic syndrome 3 http http://identifiers.org/hgnc/3092 disease_has_basis_in_dysfunction_of MONDO:0014353 PGM3-CDG GARD GARD:0004331 one_to_one MONDO:0014353 PGM3-CDG ICD10 ICD10:E77.8 inexact -MONDO:0014353 PGM3-CDG MONDO MONDO:0007818,MONDO:0015919,MONDO:0017749 subclass +MONDO:0014353 PGM3-CDG MONDO MONDO:0002320,MONDO:0007818,MONDO:0015919,MONDO:0017749 subclass MONDO:0014353 PGM3-CDG OMIM OMIM:615816 one_to_one MONDO:0014353 PGM3-CDG Orphanet Orphanet:443811 one_to_one MONDO:0014353 PGM3-CDG UMLS UMLS:C4014371 one_to_one @@ -85849,7 +86020,7 @@ MONDO:0014357 intellectual disability, autosomal dominant 24 http http://identif MONDO:0014358 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome DOID DOID:0070055 one_to_one MONDO:0014358 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome ICD10 ICD10:Q87.8 inexact MONDO:0014358 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome MONDO MONDO:0015802 excluded_subClassOf -MONDO:0014358 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome MONDO MONDO:0000426,MONDO:0015983 subclass +MONDO:0014358 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015983 subclass MONDO:0014358 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome OMIM OMIM:615829 one_to_one MONDO:0014358 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome Orphanet Orphanet:412069 one_to_one MONDO:0014358 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome UMLS UMLS:C4014419 one_to_one @@ -85865,7 +86036,7 @@ MONDO:0014360 epileptic encephalopathy, early infantile, 21 http http://identifi MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency DOID DOID:0070056 one_to_one MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency ICD10 ICD10:F84.1 inexact MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO MONDO:0015802 excluded_subClassOf -MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO MONDO:0000426,MONDO:0015159,MONDO:0015878,MONDO:0015983,MONDO:0043005 subclass +MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015878,MONDO:0015983,MONDO:0043005 subclass MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency OMIM OMIM:615834 one_to_one MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency Orphanet Orphanet:352490 one_to_one MONDO:0014361 autism spectrum disorder due to AUTS2 deficiency UMLS UMLS:C4014435 one_to_one @@ -85955,7 +86126,7 @@ MONDO:0014378 primary ciliary dyskinesia 29 http http://identifiers.org/hgnc/185 MONDO:0014379 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder DOID DOID:0070058 one_to_one MONDO:0014379 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder GARD GARD:0012931 one_to_one MONDO:0014379 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder ICD10 ICD10:Q87.0 inexact -MONDO:0014379 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder MONDO MONDO:0000426,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass +MONDO:0014379 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass MONDO:0014379 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder OMIM OMIM:615873 one_to_one MONDO:0014379 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder Orphanet Orphanet:404448 one_to_one MONDO:0014379 ADNP-related multiple congenital anomalies-intellectual disability-autism spectrum disorder UMLS UMLS:C4014538 one_to_one @@ -85972,7 +86143,7 @@ MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 OMIM OMIM:615878 MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 UMLS UMLS:C2931067 one_to_one MONDO:0014381 cholestasis, progressive familial intrahepatic, 4 http http://identifiers.org/hgnc/11828 disease_has_basis_in_dysfunction_of MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome ICD10 ICD10:Q87.3 inexact -MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome OMIM OMIM:615879 one_to_one MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome Orphanet Orphanet:404443 one_to_one MONDO:0014382 tall stature-intellectual disability-facial dysmorphism syndrome UMLS UMLS:C4014545 one_to_one @@ -86047,14 +86218,14 @@ MONDO:0014396 dilated cardiomyopathy 1NN OMIM OMIM:615916 one_to_one MONDO:0014396 dilated cardiomyopathy 1NN UMLS UMLS:C4014656 one_to_one MONDO:0014396 dilated cardiomyopathy 1NN http http://identifiers.org/hgnc/9829 disease_has_basis_in_dysfunction_of MONDO:0014397 combined oxidative phosphorylation defect type 20 ICD10 ICD10:G31.8 inexact -MONDO:0014397 combined oxidative phosphorylation defect type 20 MONDO MONDO:0000732,MONDO:0015960,MONDO:0018157,MONDO:0019058 subclass +MONDO:0014397 combined oxidative phosphorylation defect type 20 MONDO MONDO:0000732,MONDO:0002320,MONDO:0015960,MONDO:0018157,MONDO:0019058 subclass MONDO:0014397 combined oxidative phosphorylation defect type 20 OMIM OMIM:615917 one_to_one MONDO:0014397 combined oxidative phosphorylation defect type 20 Orphanet Orphanet:420728 one_to_one MONDO:0014397 combined oxidative phosphorylation defect type 20 UMLS UMLS:C4014660 one_to_one MONDO:0014397 combined oxidative phosphorylation defect type 20 http http://identifiers.org/hgnc/21642 disease_has_basis_in_dysfunction_of MONDO:0014398 combined oxidative phosphorylation defect type 21 EFO EFO:0009032 one_to_one MONDO:0014398 combined oxidative phosphorylation defect type 21 ICD10 ICD10:E88.8 inexact -MONDO:0014398 combined oxidative phosphorylation defect type 21 MONDO MONDO:0000732,MONDO:0015960,MONDO:0018157,MONDO:0019058 subclass +MONDO:0014398 combined oxidative phosphorylation defect type 21 MONDO MONDO:0000732,MONDO:0002320,MONDO:0015960,MONDO:0018157,MONDO:0019058 subclass MONDO:0014398 combined oxidative phosphorylation defect type 21 OMIM OMIM:615918 one_to_one MONDO:0014398 combined oxidative phosphorylation defect type 21 Orphanet Orphanet:420733 one_to_one MONDO:0014398 combined oxidative phosphorylation defect type 21 UMLS UMLS:C4014668 one_to_one @@ -86125,7 +86296,7 @@ MONDO:0014410 spinocerebellar ataxia type 37 Orphanet Orphanet:363710 one_to_one MONDO:0014410 spinocerebellar ataxia type 37 SCTID SCTID:719301002 one_to_one MONDO:0014410 spinocerebellar ataxia type 37 UMLS UMLS:C3889636,UMLS:C4304821 inexact MONDO:0014410 spinocerebellar ataxia type 37 http http://identifiers.org/hgnc/2661 disease_has_basis_in_dysfunction_of -MONDO:0014411 myopia 24, autosomal dominant MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0014411 myopia 24, autosomal dominant MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0014411 myopia 24, autosomal dominant OMIM OMIM:615946 one_to_one MONDO:0014411 myopia 24, autosomal dominant UMLS UMLS:C4014762 one_to_one MONDO:0014411 myopia 24, autosomal dominant http http://identifiers.org/hgnc/20502 disease_has_basis_in_dysfunction_of @@ -86552,7 +86723,7 @@ MONDO:0014481 inflammatory skin and bowel disease, neonatal, 2 http http://ident MONDO:0014482 intellectual disability, autosomal dominant 29 DOID DOID:0070059 one_to_one MONDO:0014482 intellectual disability, autosomal dominant 29 GARD GARD:0013379 one_to_one MONDO:0014482 intellectual disability, autosomal dominant 29 MONDO MONDO:0015802 excluded_subClassOf -MONDO:0014482 intellectual disability, autosomal dominant 29 MONDO MONDO:0000426,MONDO:0018574 subclass +MONDO:0014482 intellectual disability, autosomal dominant 29 MONDO MONDO:0000426,MONDO:0002320,MONDO:0018574 subclass MONDO:0014482 intellectual disability, autosomal dominant 29 OMIM OMIM:616078 one_to_one MONDO:0014482 intellectual disability, autosomal dominant 29 UMLS UMLS:C4015141 one_to_one MONDO:0014482 intellectual disability, autosomal dominant 29 http http://identifiers.org/hgnc/15573 disease_has_basis_in_dysfunction_of @@ -86573,7 +86744,7 @@ MONDO:0014485 pontocerebellar hypoplasia, type 1C http http://identifiers.org/hg MONDO:0014486 intellectual disability, autosomal dominant 30 DOID DOID:0070060 one_to_one MONDO:0014486 intellectual disability, autosomal dominant 30 GARD GARD:0013136 one_to_one MONDO:0014486 intellectual disability, autosomal dominant 30 MONDO MONDO:0014482,MONDO:0015802 excluded_subClassOf -MONDO:0014486 intellectual disability, autosomal dominant 30 MONDO MONDO:0000426,MONDO:0018574 subclass +MONDO:0014486 intellectual disability, autosomal dominant 30 MONDO MONDO:0000426,MONDO:0002320,MONDO:0018574 subclass MONDO:0014486 intellectual disability, autosomal dominant 30 OMIM OMIM:616083 one_to_one MONDO:0014486 intellectual disability, autosomal dominant 30 UMLS UMLS:C4015167 one_to_one MONDO:0014486 intellectual disability, autosomal dominant 30 http http://identifiers.org/hgnc/16966 disease_has_basis_in_dysfunction_of @@ -86632,7 +86803,7 @@ MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 MONDO MONDO:00 MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 OMIM OMIM:616111 one_to_one MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 UMLS UMLS:C4015253 one_to_one MONDO:0014496 mitochondrial complex III deficiency nuclear type 9 http http://identifiers.org/hgnc/34399 disease_has_basis_in_dysfunction_of -MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO MONDO:0015361,MONDO:0015778,MONDO:0015888,MONDO:0015890,MONDO:0015967,MONDO:0015983 subclass +MONDO:0014497 polyendocrine-polyneuropathy syndrome MONDO MONDO:0002320,MONDO:0015361,MONDO:0015778,MONDO:0015888,MONDO:0015890,MONDO:0015967,MONDO:0015983 subclass MONDO:0014497 polyendocrine-polyneuropathy syndrome OMIM OMIM:616113 one_to_one MONDO:0014497 polyendocrine-polyneuropathy syndrome Orphanet Orphanet:453533 one_to_one MONDO:0014497 polyendocrine-polyneuropathy syndrome UMLS UMLS:C4015261 one_to_one @@ -86654,7 +86825,7 @@ MONDO:0014500 atrial conduction disease OMIM OMIM:616117 one_to_one MONDO:0014500 atrial conduction disease Orphanet Orphanet:436242 one_to_one MONDO:0014500 atrial conduction disease UMLS UMLS:C4015285 one_to_one MONDO:0014500 atrial conduction disease http http://identifiers.org/hgnc/19661 disease_has_basis_in_dysfunction_of -MONDO:0014501 macular degeneration, early-onset MONDO MONDO:0004589,MONDO:0005150 subclass +MONDO:0014501 macular degeneration, early-onset MONDO MONDO:0005150,MONDO:0019118 subclass MONDO:0014501 macular degeneration, early-onset OMIM OMIM:616118 one_to_one MONDO:0014501 macular degeneration, early-onset UMLS UMLS:C4015286 one_to_one MONDO:0014501 macular degeneration, early-onset http http://identifiers.org/hgnc/3604 disease_has_basis_in_dysfunction_of @@ -86689,7 +86860,7 @@ MONDO:0014506 hypomyelinating leukodystrophy 9 http http://identifiers.org/hgnc/ MONDO:0014507 Catel-Manzke syndrome GARD GARD:0000028 one_to_one MONDO:0014507 Catel-Manzke syndrome ICD10 ICD10:Q87.8 inexact MONDO:0014507 Catel-Manzke syndrome MESH MESH:C535347 one_to_one -MONDO:0014507 Catel-Manzke syndrome MONDO MONDO:0015159,MONDO:0015335,MONDO:0015983,MONDO:0017434,MONDO:0043005 subclass +MONDO:0014507 Catel-Manzke syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015335,MONDO:0015983,MONDO:0017434,MONDO:0043005 subclass MONDO:0014507 Catel-Manzke syndrome OMIM OMIM:616145 one_to_one MONDO:0014507 Catel-Manzke syndrome Orphanet Orphanet:1388 one_to_one MONDO:0014507 Catel-Manzke syndrome SCTID SCTID:722383001 one_to_one @@ -86786,13 +86957,13 @@ MONDO:0014524 intellectual disability, autosomal recessive 47 UMLS UMLS:C4015444 MONDO:0014524 intellectual disability, autosomal recessive 47 http http://identifiers.org/hgnc/14074 disease_has_basis_in_dysfunction_of MONDO:0014525 combined oxidative phosphorylation defect type 23 EFO EFO:0009033 one_to_one MONDO:0014525 combined oxidative phosphorylation defect type 23 ICD10 ICD10:I42.2 inexact -MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO MONDO:0000732,MONDO:0015983,MONDO:0016327,MONDO:0018157,MONDO:0019058 subclass +MONDO:0014525 combined oxidative phosphorylation defect type 23 MONDO MONDO:0000732,MONDO:0002320,MONDO:0015983,MONDO:0016327,MONDO:0018157,MONDO:0019058 subclass MONDO:0014525 combined oxidative phosphorylation defect type 23 OMIM OMIM:616198 one_to_one MONDO:0014525 combined oxidative phosphorylation defect type 23 Orphanet Orphanet:444013 one_to_one MONDO:0014525 combined oxidative phosphorylation defect type 23 UMLS UMLS:C4015447 one_to_one MONDO:0014525 combined oxidative phosphorylation defect type 23 http http://identifiers.org/hgnc/14880 disease_has_basis_in_dysfunction_of MONDO:0014526 polyglucosan body myopathy type 2 ICD10 ICD10:E74.0 inexact -MONDO:0014526 polyglucosan body myopathy type 2 MONDO MONDO:0000192,MONDO:0002412,MONDO:0016118,MONDO:0019058 subclass +MONDO:0014526 polyglucosan body myopathy type 2 MONDO MONDO:0000192,MONDO:0002320,MONDO:0002412,MONDO:0016118,MONDO:0019058 subclass MONDO:0014526 polyglucosan body myopathy type 2 OMIM OMIM:616199 one_to_one MONDO:0014526 polyglucosan body myopathy type 2 Orphanet Orphanet:456369 one_to_one MONDO:0014526 polyglucosan body myopathy type 2 UMLS UMLS:C4015452 one_to_one @@ -86831,7 +87002,7 @@ MONDO:0014531 amyotrohpic lateral sclerosis type 22 OMIM OMIM:616208 one_to_one MONDO:0014531 amyotrohpic lateral sclerosis type 22 UMLS UMLS:C4015512 one_to_one MONDO:0014531 amyotrohpic lateral sclerosis type 22 http http://identifiers.org/hgnc/12407 disease_has_basis_in_dysfunction_of MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance ICD10 ICD10:G71.3 inexact -MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance MONDO MONDO:0015960,MONDO:0016799,MONDO:0019058,MONDO:0020123 subclass +MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance MONDO MONDO:0002320,MONDO:0015960,MONDO:0016799,MONDO:0019058,MONDO:0020123 subclass MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance OMIM OMIM:616209 one_to_one MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance Orphanet Orphanet:457050 one_to_one MONDO:0014532 autosomal dominant mitochondrial myopathy with exercise intolerance UMLS UMLS:C4015513 one_to_one @@ -86875,7 +87046,7 @@ MONDO:0014540 amelogenesis imperfecta type 1H MONDO MONDO:0007538,MONDO:0015047, MONDO:0014540 amelogenesis imperfecta type 1H OMIM OMIM:616221 one_to_one MONDO:0014540 amelogenesis imperfecta type 1H UMLS UMLS:C4015557 one_to_one MONDO:0014540 amelogenesis imperfecta type 1H http http://identifiers.org/hgnc/6161 disease_has_basis_in_dysfunction_of -MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO MONDO:0015983,MONDO:0016565 subclass +MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect MONDO MONDO:0002320,MONDO:0015983,MONDO:0016565 subclass MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect NCIT NCIT:C120409 one_to_one MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect OMIM OMIM:616222 one_to_one MONDO:0014541 motor developmental delay due to 14q32.2 paternally expressed gene defect Orphanet Orphanet:254516 one_to_one @@ -86896,7 +87067,7 @@ MONDO:0014544 osteogenesis imperfecta type 16 MONDO MONDO:0019019 subclass MONDO:0014544 osteogenesis imperfecta type 16 OMIM OMIM:616229 one_to_one MONDO:0014544 osteogenesis imperfecta type 16 UMLS UMLS:C4015610 one_to_one MONDO:0014545 progressive myoclonic epilepsy type 8 ICD10 ICD10:G40.3 inexact -MONDO:0014545 progressive myoclonic epilepsy type 8 MONDO MONDO:0015123,MONDO:0018118,MONDO:0020074 subclass +MONDO:0014545 progressive myoclonic epilepsy type 8 MONDO MONDO:0002320,MONDO:0015123,MONDO:0018118,MONDO:0020074 subclass MONDO:0014545 progressive myoclonic epilepsy type 8 OMIM OMIM:616230 one_to_one MONDO:0014545 progressive myoclonic epilepsy type 8 Orphanet Orphanet:424027 one_to_one MONDO:0014545 progressive myoclonic epilepsy type 8 UMLS UMLS:C4015619 one_to_one @@ -86968,7 +87139,7 @@ MONDO:0014557 ataxia-oculomotor apraxia type 4 UMLS UMLS:C4225397 one_to_one MONDO:0014557 ataxia-oculomotor apraxia type 4 http http://identifiers.org/hgnc/9154 disease_has_basis_in_dysfunction_of MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome DOID DOID:0070062 one_to_one MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO MONDO:0015802 excluded_subClassOf -MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO MONDO:0000426,MONDO:0015159,MONDO:0015338,MONDO:0015506,MONDO:0015983,MONDO:0043005 subclass +MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015338,MONDO:0015506,MONDO:0015983,MONDO:0043005 subclass MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome OMIM OMIM:616268 one_to_one MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome Orphanet Orphanet:457193 one_to_one MONDO:0014558 autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome http http://identifiers.org/hgnc/13013 disease_has_basis_in_dysfunction_of @@ -87193,7 +87364,7 @@ MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 UMLS UMLS:C4225355 o MONDO:0014601 autosomal recessive spinocerebellar ataxia 20 http http://identifiers.org/hgnc/14977 disease_has_basis_in_dysfunction_of MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome DOID DOID:0070065 one_to_one MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO MONDO:0015802 excluded_subClassOf -MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO MONDO:0000426,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass +MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome OMIM OMIM:616355 one_to_one MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome Orphanet Orphanet:457279 one_to_one MONDO:0014602 intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome UMLS UMLS:C4225354 one_to_one @@ -87217,7 +87388,7 @@ MONDO:0014605 microcephaly-corpus callosum hypoplasia-intellectual disability-fa MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome DOID DOID:0070067 one_to_one MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome EFO EFO:0009079 one_to_one MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO MONDO:0015802 excluded_subClassOf -MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO MONDO:0000426,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass +MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome OMIM OMIM:616364 one_to_one MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome Orphanet Orphanet:468678 one_to_one MONDO:0014606 intellectual disability-microcephaly-strabismus-behavioral abnormalities syndrome http http://identifiers.org/hgnc/18801 disease_has_basis_in_dysfunction_of @@ -87235,7 +87406,7 @@ MONDO:0014608 mandibulofacial dysostosis with alopecia http http://identifiers.o MONDO:0014609 cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome EFO EFO:0009031 one_to_one MONDO:0014609 cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome GARD GARD:0012845 one_to_one MONDO:0014609 cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0014609 cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome MONDO MONDO:0015159,MONDO:0015329,MONDO:0015506,MONDO:0015983,MONDO:0016565,MONDO:0019052,MONDO:0019066,MONDO:0043005 subclass +MONDO:0014609 cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015329,MONDO:0015506,MONDO:0015983,MONDO:0016565,MONDO:0019052,MONDO:0019066,MONDO:0043005 subclass MONDO:0014609 cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome OMIM OMIM:616368 one_to_one MONDO:0014609 cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome Orphanet Orphanet:444077 one_to_one MONDO:0014609 cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome UMLS UMLS:C4085597 one_to_one @@ -87261,7 +87432,7 @@ MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 MONDO:0014613 pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3 http http://identifiers.org/hgnc/15888 disease_has_basis_in_dysfunction_of MONDO:0014614 congenital stationary night blindness 1G DOID DOID:0110714 one_to_one MONDO:0014614 congenital stationary night blindness 1G HP HP:0000007 has_modifier -MONDO:0014614 congenital stationary night blindness 1G MONDO MONDO:0004587,MONDO:0004589,MONDO:0006025,MONDO:0016293 subclass +MONDO:0014614 congenital stationary night blindness 1G MONDO MONDO:0006025,MONDO:0016293 subclass MONDO:0014614 congenital stationary night blindness 1G OMIM OMIM:616389 one_to_one MONDO:0014614 congenital stationary night blindness 1G UMLS UMLS:C4225345 one_to_one MONDO:0014614 congenital stationary night blindness 1G http http://identifiers.org/hgnc/4393 disease_has_basis_in_dysfunction_of @@ -87400,7 +87571,7 @@ MONDO:0014642 candidiasis, familial, 9 MONDO MONDO:0015279,MONDO:0024486 subclas MONDO:0014642 candidiasis, familial, 9 OMIM OMIM:616445 one_to_one MONDO:0014642 candidiasis, familial, 9 UMLS UMLS:C4225324 one_to_one MONDO:0014642 candidiasis, familial, 9 http http://identifiers.org/hgnc/18358 disease_has_basis_in_dysfunction_of -MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0020225 subclass +MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0020225 subclass MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome OMIM OMIM:616449 one_to_one MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome Orphanet Orphanet:464738 one_to_one MONDO:0014643 congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome UMLS UMLS:C4225323 one_to_one @@ -87518,7 +87689,7 @@ MONDO:0014665 Charcot-Marie-tooth disease axonal type 2V UMLS UMLS:C4225306 one_ MONDO:0014665 Charcot-Marie-tooth disease axonal type 2V http http://identifiers.org/hgnc/7632 disease_has_basis_in_dysfunction_of MONDO:0014666 hypomyelinating leukodystrophy 11 DOID DOID:0060792 one_to_one MONDO:0014666 hypomyelinating leukodystrophy 11 ICD10 ICD10:G11.1 inexact -MONDO:0014666 hypomyelinating leukodystrophy 11 MONDO MONDO:0019046,MONDO:0019505 subclass +MONDO:0014666 hypomyelinating leukodystrophy 11 MONDO MONDO:0002320,MONDO:0019046,MONDO:0019505 subclass MONDO:0014666 hypomyelinating leukodystrophy 11 OMIM OMIM:616494 one_to_one MONDO:0014666 hypomyelinating leukodystrophy 11 UMLS UMLS:C4225305 one_to_one MONDO:0014666 hypomyelinating leukodystrophy 11 http http://identifiers.org/hgnc/20194 disease_has_basis_in_dysfunction_of @@ -87629,7 +87800,7 @@ MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly UMLS UMLS:C422528 MONDO:0014688 short-rib thoracic dysplasia 14 with polydactyly http http://identifiers.org/hgnc/19960 disease_has_basis_in_dysfunction_of MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome ICD10 ICD10:Q76.1 inexact MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO MONDO:0001029 disease_has_feature -MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO MONDO:0001029,MONDO:0019952 subclass +MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome MONDO MONDO:0001029,MONDO:0002320,MONDO:0019952 subclass MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome OMIM OMIM:616549 one_to_one MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome Orphanet Orphanet:447974 one_to_one MONDO:0014689 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome UMLS UMLS:C4225285 one_to_one @@ -87769,7 +87940,7 @@ MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine v MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection UMLS UMLS:C4225260 one_to_one MONDO:0014715 primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection http http://identifiers.org/hgnc/11363 disease_has_basis_in_dysfunction_of MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome EFO EFO:0009050 one_to_one -MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome OMIM OMIM:616638 one_to_one MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome Orphanet Orphanet:457485 one_to_one MONDO:0014716 macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome UMLS UMLS:C4225259 one_to_one @@ -87804,7 +87975,7 @@ MONDO:0014722 Roifman syndrome OMIM OMIM:616651 one_to_one MONDO:0014722 Roifman syndrome Orphanet Orphanet:353298 one_to_one MONDO:0014722 Roifman syndrome UMLS UMLS:C1846059 one_to_one MONDO:0014722 Roifman syndrome http http://identifiers.org/hgnc/34016 disease_has_basis_in_dysfunction_of -MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome MONDO MONDO:0015359,MONDO:0015983,MONDO:0016967 subclass +MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome MONDO MONDO:0002320,MONDO:0015359,MONDO:0015983,MONDO:0016967 subclass MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome OMIM OMIM:616652 one_to_one MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome Orphanet Orphanet:477817 one_to_one MONDO:0014723 PMP22-RAI1 contiguous gene duplication syndrome UMLS UMLS:C4225255 one_to_one @@ -87831,7 +88002,7 @@ MONDO:0014727 immunodeficiency 45; IMD45 OMIM OMIM:616669 one_to_one MONDO:0014727 immunodeficiency 45; IMD45 UMLS UMLS:C4225252 one_to_one MONDO:0014727 immunodeficiency 45; IMD45 http http://identifiers.org/hgnc/5433 disease_has_basis_in_dysfunction_of MONDO:0014728 combined oxidative phosphorylation defect type 27 EFO EFO:0009037 one_to_one -MONDO:0014728 combined oxidative phosphorylation defect type 27 MONDO MONDO:0000732,MONDO:0015919,MONDO:0015960,MONDO:0018157 subclass +MONDO:0014728 combined oxidative phosphorylation defect type 27 MONDO MONDO:0000732,MONDO:0002320,MONDO:0015919,MONDO:0015960,MONDO:0018157 subclass MONDO:0014728 combined oxidative phosphorylation defect type 27 OMIM OMIM:616672 one_to_one MONDO:0014728 combined oxidative phosphorylation defect type 27 Orphanet Orphanet:477774 one_to_one MONDO:0014728 combined oxidative phosphorylation defect type 27 UMLS UMLS:C4225251 one_to_one @@ -87862,12 +88033,12 @@ MONDO:0014732 hypomyelinating leukodystrophy 12 UMLS UMLS:C4225247 one_to_one MONDO:0014732 hypomyelinating leukodystrophy 12 http http://identifiers.org/hgnc/14583 disease_has_basis_in_dysfunction_of MONDO:0014733 Charcot-Marie-tooth disease type 4K DOID DOID:0110187 one_to_one MONDO:0014733 Charcot-Marie-tooth disease type 4K ICD10 ICD10:G60.0 inexact -MONDO:0014733 Charcot-Marie-tooth disease type 4K MONDO MONDO:0015960,MONDO:0016578,MONDO:0018995 subclass +MONDO:0014733 Charcot-Marie-tooth disease type 4K MONDO MONDO:0002320,MONDO:0015960,MONDO:0016578,MONDO:0018995 subclass MONDO:0014733 Charcot-Marie-tooth disease type 4K OMIM OMIM:616684 one_to_one MONDO:0014733 Charcot-Marie-tooth disease type 4K Orphanet Orphanet:391351 one_to_one MONDO:0014733 Charcot-Marie-tooth disease type 4K UMLS UMLS:C4225246 one_to_one MONDO:0014733 Charcot-Marie-tooth disease type 4K http http://identifiers.org/hgnc/11474 disease_has_basis_in_dysfunction_of -MONDO:0014734 epilepsy, idiopathic generalized, susceptibility to, 14; EIG14 MONDO MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass +MONDO:0014734 epilepsy, idiopathic generalized, susceptibility to, 14; EIG14 MONDO MONDO:0002320,MONDO:0003847,MONDO:0005579,MONDO:0015955 subclass MONDO:0014734 epilepsy, idiopathic generalized, susceptibility to, 14; EIG14 OMIM OMIM:616685 one_to_one MONDO:0014734 epilepsy, idiopathic generalized, susceptibility to, 14; EIG14 http http://identifiers.org/hgnc/13818 disease_has_basis_in_dysfunction_of MONDO:0014735 Charcot-Marie-tooth disease type 2Y DOID DOID:0110168 one_to_one @@ -87937,12 +88108,12 @@ MONDO:0014746 SLC39A8-CDG OMIM OMIM:616721 one_to_one MONDO:0014746 SLC39A8-CDG Orphanet Orphanet:468699 one_to_one MONDO:0014746 SLC39A8-CDG UMLS UMLS:C4225234,UMLS:CN234734 inexact MONDO:0014746 SLC39A8-CDG http http://identifiers.org/hgnc/20862 disease_has_basis_in_dysfunction_of -MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome MONDO MONDO:0004589,MONDO:0015218,MONDO:0020149,MONDO:0020225,MONDO:0020240 subclass +MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome MONDO MONDO:0015218,MONDO:0020149,MONDO:0020225,MONDO:0020240 subclass MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome OMIM OMIM:616722 one_to_one MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome Orphanet Orphanet:488197 one_to_one MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome UMLS UMLS:C4225233 one_to_one MONDO:0014747 familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome http http://identifiers.org/hgnc/31582 disease_has_basis_in_dysfunction_of -MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015329,MONDO:0015983,MONDO:0016761 subclass +MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015329,MONDO:0015983,MONDO:0016761 subclass MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome OMIM OMIM:616723 one_to_one MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome Orphanet Orphanet:457395 one_to_one MONDO:0014748 progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome UMLS UMLS:C4225232 one_to_one @@ -87957,7 +88128,7 @@ MONDO:0014750 primary ciliary dyskinesia 33 MONDO MONDO:0016575 subclass MONDO:0014750 primary ciliary dyskinesia 33 OMIM OMIM:616726 one_to_one MONDO:0014750 primary ciliary dyskinesia 33 UMLS UMLS:C4225230 one_to_one MONDO:0014750 primary ciliary dyskinesia 33 http http://identifiers.org/hgnc/4166 disease_has_basis_in_dysfunction_of -MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass +MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome OMIM OMIM:616728 one_to_one MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome Orphanet Orphanet:477993 one_to_one MONDO:0014751 palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome UMLS UMLS:C4225229 one_to_one @@ -87979,7 +88150,7 @@ MONDO:0014754 coenzyme Q10 deficiency, primary, 8; COQ10D8 http http://identifie MONDO:0014755 skin creases, congenital symmetric circumferential, 2; CSCSC2 MONDO MONDO:0007990 subclass MONDO:0014755 skin creases, congenital symmetric circumferential, 2; CSCSC2 OMIM OMIM:616734 one_to_one MONDO:0014755 skin creases, congenital symmetric circumferential, 2; CSCSC2 http http://identifiers.org/hgnc/6891 disease_has_basis_in_dysfunction_of -MONDO:0014756 tremor, hereditary essential, 5; ETM5 MONDO MONDO:0003233,MONDO:0003847,MONDO:0015957 subclass +MONDO:0014756 tremor, hereditary essential, 5; ETM5 MONDO MONDO:0002320,MONDO:0003233,MONDO:0003847,MONDO:0015957 subclass MONDO:0014756 tremor, hereditary essential, 5; ETM5 OMIM OMIM:616736 one_to_one MONDO:0014756 tremor, hereditary essential, 5; ETM5 UMLS UMLS:C4225223 one_to_one MONDO:0014756 tremor, hereditary essential, 5; ETM5 http http://identifiers.org/hgnc/29945 disease_has_basis_in_dysfunction_of @@ -88050,12 +88221,13 @@ MONDO:0014771 Joubert syndrome 26 MONDO MONDO:0018772 subclass MONDO:0014771 Joubert syndrome 26 OMIM OMIM:616784 one_to_one MONDO:0014771 Joubert syndrome 26 UMLS UMLS:C4084843 one_to_one MONDO:0014771 Joubert syndrome 26 http http://identifiers.org/hgnc/29068 disease_has_basis_in_dysfunction_of -MONDO:0014772 orofacial cleft 15; OFC15 MONDO MONDO:0016044 subclass -MONDO:0014772 orofacial cleft 15; OFC15 OMIM OMIM:616788 one_to_one -MONDO:0014772 orofacial cleft 15; OFC15 http http://identifiers.org/hgnc/2917 disease_has_basis_in_dysfunction_of +MONDO:0014772 orofacial cleft 15 MONDO MONDO:0021128 has_modifier +MONDO:0014772 orofacial cleft 15 MONDO MONDO:0016044 subclass +MONDO:0014772 orofacial cleft 15 OMIM OMIM:616788 one_to_one +MONDO:0014772 orofacial cleft 15 http http://identifiers.org/hgnc/2917 disease_has_basis_in_dysfunction_of MONDO:0014773 cardiac anomalies-developmental delay-facial dysmorphism syndrome GARD GARD:0012999 one_to_one MONDO:0014773 cardiac anomalies-developmental delay-facial dysmorphism syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0014773 cardiac anomalies-developmental delay-facial dysmorphism syndrome MONDO MONDO:0015159,MONDO:0015506,MONDO:0015983,MONDO:0017131 subclass +MONDO:0014773 cardiac anomalies-developmental delay-facial dysmorphism syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015506,MONDO:0015983,MONDO:0017131 subclass MONDO:0014773 cardiac anomalies-developmental delay-facial dysmorphism syndrome OMIM OMIM:616789 one_to_one MONDO:0014773 cardiac anomalies-developmental delay-facial dysmorphism syndrome Orphanet Orphanet:369891 one_to_one MONDO:0014773 cardiac anomalies-developmental delay-facial dysmorphism syndrome UMLS UMLS:C4225208 one_to_one @@ -88104,7 +88276,7 @@ MONDO:0014783 preimplantation embryonic lethality 1; PREMBL1 MONDO MONDO:0000218 MONDO:0014783 preimplantation embryonic lethality 1; PREMBL1 OMIM OMIM:616814 one_to_one MONDO:0014783 preimplantation embryonic lethality 1; PREMBL1 UMLS UMLS:C4225197 one_to_one MONDO:0014783 preimplantation embryonic lethality 1; PREMBL1 http http://identifiers.org/hgnc/30788 disease_has_basis_in_dysfunction_of -MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome MONDO MONDO:0015506,MONDO:0019952,MONDO:0020253,MONDO:0020259 subclass +MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome MONDO MONDO:0002320,MONDO:0015506,MONDO:0019952,MONDO:0020253,MONDO:0020259 subclass MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome OMIM OMIM:616816 one_to_one MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome Orphanet Orphanet:467176 one_to_one MONDO:0014784 severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome UMLS UMLS:C4225196 one_to_one @@ -88144,7 +88316,7 @@ MONDO:0014792 Paget disease of bone 6; PDB6 MONDO MONDO:0003847,MONDO:0005382 su MONDO:0014792 Paget disease of bone 6; PDB6 OMIM OMIM:616833 one_to_one MONDO:0014792 Paget disease of bone 6; PDB6 UMLS UMLS:C4085250 one_to_one MONDO:0014792 Paget disease of bone 6; PDB6 http http://identifiers.org/hgnc/29277 disease_has_basis_in_dysfunction_of -MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO MONDO:0015905,MONDO:0015946,MONDO:0015960,MONDO:0019240,MONDO:0019274,MONDO:0020225 subclass +MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome MONDO MONDO:0002320,MONDO:0015905,MONDO:0015946,MONDO:0015960,MONDO:0019240,MONDO:0019274,MONDO:0020225 subclass MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome OMIM OMIM:616834 one_to_one MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome Orphanet Orphanet:488168 one_to_one MONDO:0014793 microcephaly-congenital cataract-psoriasiform dermatitis syndrome UMLS UMLS:C4225189 one_to_one @@ -88206,7 +88378,7 @@ MONDO:0014804 adult-onset autosomal recessive sideroblastic anemia MONDO MONDO:0 MONDO:0014804 adult-onset autosomal recessive sideroblastic anemia OMIM OMIM:616860 one_to_one MONDO:0014804 adult-onset autosomal recessive sideroblastic anemia Orphanet Orphanet:255132 one_to_one MONDO:0014804 adult-onset autosomal recessive sideroblastic anemia SCTID SCTID:720465002 one_to_one -MONDO:0014805 16p13.2 microdeletion syndrome MONDO MONDO:0000761,MONDO:0015983,MONDO:0016894 subclass +MONDO:0014805 16p13.2 microdeletion syndrome MONDO MONDO:0000761,MONDO:0002320,MONDO:0015983,MONDO:0016894 subclass MONDO:0014805 16p13.2 microdeletion syndrome OMIM OMIM:616863 one_to_one MONDO:0014805 16p13.2 microdeletion syndrome Orphanet Orphanet:500055 one_to_one MONDO:0014805 16p13.2 microdeletion syndrome UMLS UMLS:C4225667 one_to_one @@ -88220,7 +88392,7 @@ MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 UMLS UMLS MONDO:0014807 spinal muscular atrophy with congenital bone fractures 2 http http://identifiers.org/hgnc/24268 disease_has_basis_in_dysfunction_of MONDO:0014808 congenital secretory sodium diarrhea 8 DOID DOID:0060777 one_to_one MONDO:0014808 congenital secretory sodium diarrhea 8 ICD10 ICD10:P78.3 inexact -MONDO:0014808 congenital secretory sodium diarrhea 8 MONDO MONDO:0000249,MONDO:0015170 subclass +MONDO:0014808 congenital secretory sodium diarrhea 8 MONDO MONDO:0000249,MONDO:0015170,MONDO:0045032 subclass MONDO:0014808 congenital secretory sodium diarrhea 8 OMIM OMIM:616868 one_to_one MONDO:0014808 congenital secretory sodium diarrhea 8 UMLS UMLS:CN515063 one_to_one MONDO:0014808 congenital secretory sodium diarrhea 8 http http://identifiers.org/hgnc/11073 disease_has_basis_in_dysfunction_of @@ -88296,7 +88468,7 @@ MONDO:0014823 TBCK-related intellectual disability syndrome OMIM OMIM:616900 one MONDO:0014823 TBCK-related intellectual disability syndrome Orphanet Orphanet:488632 one_to_one MONDO:0014823 TBCK-related intellectual disability syndrome UMLS UMLS:C4225161 one_to_one MONDO:0014823 TBCK-related intellectual disability syndrome http http://identifiers.org/hgnc/28261 disease_has_basis_in_dysfunction_of -MONDO:0014824 craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015329,MONDO:0015983,MONDO:0019710,MONDO:0043005 subclass +MONDO:0014824 craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015329,MONDO:0015983,MONDO:0019710,MONDO:0043005 subclass MONDO:0014824 craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome OMIM OMIM:616901 one_to_one MONDO:0014824 craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome Orphanet Orphanet:459061 one_to_one MONDO:0014824 craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome UMLS UMLS:C4310801 one_to_one @@ -88410,7 +88582,7 @@ MONDO:0014847 spermatogenic failure 15; SPGF15 MONDO MONDO:0004983,MONDO:0018393 MONDO:0014847 spermatogenic failure 15; SPGF15 OMIM OMIM:616950 one_to_one MONDO:0014847 spermatogenic failure 15; SPGF15 UMLS UMLS:C4310779 one_to_one MONDO:0014847 spermatogenic failure 15; SPGF15 http http://identifiers.org/hgnc/28852 disease_has_basis_in_dysfunction_of -MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder MONDO MONDO:0004589,MONDO:0015159,MONDO:0015329,MONDO:0015368,MONDO:0015620,MONDO:0015652,MONDO:0016908,MONDO:0017118,MONDO:0019066,MONDO:0019285,MONDO:0019589,MONDO:0019712,MONDO:0020215,MONDO:0020240,MONDO:0020274,MONDO:0043007 subclass +MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder MONDO MONDO:0015159,MONDO:0015329,MONDO:0015368,MONDO:0015620,MONDO:0015652,MONDO:0016908,MONDO:0017118,MONDO:0019066,MONDO:0019285,MONDO:0019589,MONDO:0019712,MONDO:0020215,MONDO:0020240,MONDO:0020274,MONDO:0043007 subclass MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder OMIM OMIM:616954 one_to_one MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder Orphanet Orphanet:488642 one_to_one MONDO:0014848 TELO2-related intellectual disability-neurodevelopmental disorder UMLS UMLS:C4310778 one_to_one @@ -88452,7 +88624,7 @@ MONDO:0014855 intellectual disability, autosomal dominant 42 OMIM OMIM:616973 on MONDO:0014855 intellectual disability, autosomal dominant 42 UMLS UMLS:C4310774 one_to_one MONDO:0014855 intellectual disability, autosomal dominant 42 http http://identifiers.org/hgnc/4396 disease_has_basis_in_dysfunction_of MONDO:0014856 combined oxidative phosphorylation defect type 30 EFO EFO:0009038 one_to_one -MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO MONDO:0000732,MONDO:0015960,MONDO:0018157,MONDO:0019058 subclass +MONDO:0014856 combined oxidative phosphorylation defect type 30 MONDO MONDO:0000732,MONDO:0002320,MONDO:0015960,MONDO:0018157,MONDO:0019058 subclass MONDO:0014856 combined oxidative phosphorylation defect type 30 OMIM OMIM:616974 one_to_one MONDO:0014856 combined oxidative phosphorylation defect type 30 Orphanet Orphanet:478042 one_to_one MONDO:0014856 combined oxidative phosphorylation defect type 30 UMLS UMLS:C4310773 one_to_one @@ -88568,7 +88740,7 @@ MONDO:0014880 Duane retraction syndrome 3 with or without deafness MONDO MONDO:0 MONDO:0014880 Duane retraction syndrome 3 with or without deafness OMIM OMIM:617041 one_to_one MONDO:0014880 Duane retraction syndrome 3 with or without deafness UMLS UMLS:C4310752 one_to_one MONDO:0014880 Duane retraction syndrome 3 with or without deafness http http://identifiers.org/hgnc/6408 disease_has_basis_in_dysfunction_of -MONDO:0014881 transketolase deficiency MONDO MONDO:0015159,MONDO:0015327,MONDO:0015329,MONDO:0015506,MONDO:0015983,MONDO:0019231,MONDO:0043005 subclass +MONDO:0014881 transketolase deficiency MONDO MONDO:0002320,MONDO:0015159,MONDO:0015327,MONDO:0015329,MONDO:0015506,MONDO:0015983,MONDO:0019231,MONDO:0043005 subclass MONDO:0014881 transketolase deficiency OMIM OMIM:617044 one_to_one MONDO:0014881 transketolase deficiency Orphanet Orphanet:488618 one_to_one MONDO:0014881 transketolase deficiency UMLS UMLS:C4310751 one_to_one @@ -88594,7 +88766,7 @@ MONDO:0014885 Hermansky-Pudlak syndrome 10; HPS10 OMIM OMIM:617050 one_to_one MONDO:0014885 Hermansky-Pudlak syndrome 10; HPS10 UMLS UMLS:C4310746 one_to_one MONDO:0014885 Hermansky-Pudlak syndrome 10; HPS10 http http://identifiers.org/hgnc/568 disease_has_basis_in_dysfunction_of MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MONDO MONDO:0019502 excluded_subClassOf -MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019043,MONDO:0019289,MONDO:0043005 subclass +MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019043,MONDO:0019289,MONDO:0043005 subclass MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome OMIM OMIM:617051 one_to_one MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome Orphanet Orphanet:488627 one_to_one MONDO:0014886 severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome UMLS UMLS:C4310745 one_to_one @@ -88625,7 +88797,7 @@ MONDO:0014891 hyperuricemic nephropathy, familial juvenile type 4 UMLS UMLS:C431 MONDO:0014891 hyperuricemic nephropathy, familial juvenile type 4 http http://identifiers.org/hgnc/18276 disease_has_basis_in_dysfunction_of MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome DOID DOID:0070074 one_to_one MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MONDO MONDO:0015802 excluded_subClassOf -MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MONDO MONDO:0000426,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass +MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0043005 subclass MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome OMIM OMIM:617061 one_to_one MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome Orphanet Orphanet:476126 one_to_one MONDO:0014892 micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome UMLS UMLS:C4310740 one_to_one @@ -88683,7 +88855,7 @@ MONDO:0014904 congenital disorder of glycosylation, type IAA; CDG1AA MONDO MONDO MONDO:0014904 congenital disorder of glycosylation, type IAA; CDG1AA OMIM OMIM:617082 one_to_one MONDO:0014904 congenital disorder of glycosylation, type IAA; CDG1AA UMLS UMLS:C4310727 one_to_one MONDO:0014904 congenital disorder of glycosylation, type IAA; CDG1AA http http://identifiers.org/hgnc/21042 disease_has_basis_in_dysfunction_of -MONDO:0014905 Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome MONDO MONDO:0015960,MONDO:0015983,MONDO:0016133,MONDO:0016799,MONDO:0018609,MONDO:0019058 subclass +MONDO:0014905 Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome MONDO MONDO:0002320,MONDO:0015960,MONDO:0015983,MONDO:0016133,MONDO:0016799,MONDO:0018609,MONDO:0019058 subclass MONDO:0014905 Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome OMIM OMIM:617086 one_to_one MONDO:0014905 Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome Orphanet Orphanet:485421 one_to_one MONDO:0014905 Leigh-like basal ganglia disease-optic atrophy-peripheral neuropathy syndrome UMLS UMLS:C4310726 one_to_one @@ -88740,7 +88912,7 @@ MONDO:0014917 epileptic encephalopathy, early infantile, 42; EIEE42 MONDO MONDO: MONDO:0014917 epileptic encephalopathy, early infantile, 42; EIEE42 OMIM OMIM:617106 one_to_one MONDO:0014917 epileptic encephalopathy, early infantile, 42; EIEE42 UMLS UMLS:C4310716 one_to_one MONDO:0014917 epileptic encephalopathy, early infantile, 42; EIEE42 http http://identifiers.org/hgnc/1388 disease_has_basis_in_dysfunction_of -MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019721,MONDO:0043005 subclass +MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019721,MONDO:0043005 subclass MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome OMIM OMIM:617107 one_to_one MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome Orphanet Orphanet:500095 one_to_one MONDO:0014918 tall stature-intellectual disability-renal anomalies syndrome UMLS UMLS:C4310715 one_to_one @@ -88852,7 +89024,7 @@ MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type); MON MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type); OMIM OMIM:617156 one_to_one MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type); UMLS UMLS:C4310690 one_to_one MONDO:0014943 mitochondrial DNA depletion syndrome 15 (hepatocerebral type); http http://identifiers.org/hgnc/11741 disease_has_basis_in_dysfunction_of -MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016565,MONDO:0019695 subclass +MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016565,MONDO:0019695 subclass MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome OMIM OMIM:617157 one_to_one MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome Orphanet Orphanet:464288 one_to_one MONDO:0014944 short stature-brachydactyly-obesity-global developmental delay syndrome UMLS UMLS:C4310689 one_to_one @@ -88966,10 +89138,10 @@ MONDO:0014970 spermatogenic failure 17; SPGF17 MONDO MONDO:0004983,MONDO:0017143 MONDO:0014970 spermatogenic failure 17; SPGF17 OMIM OMIM:617214 one_to_one MONDO:0014970 spermatogenic failure 17; SPGF17 UMLS UMLS:C4310666 one_to_one MONDO:0014970 spermatogenic failure 17; SPGF17 http http://identifiers.org/hgnc/19218 disease_has_basis_in_dysfunction_of -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, Iia6; AI2A6 MONDO MONDO:0003847,MONDO:0015048 subclass -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, Iia6; AI2A6 OMIM OMIM:617217 one_to_one -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, Iia6; AI2A6 UMLS UMLS:C4310665 one_to_one -MONDO:0014971 amelogenesis imperfecta, hypomaturation type, Iia6; AI2A6 http http://identifiers.org/hgnc/4519 disease_has_basis_in_dysfunction_of +MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6 MONDO MONDO:0003847,MONDO:0015048 subclass +MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6 OMIM OMIM:617217 one_to_one +MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6 UMLS UMLS:C4310665 one_to_one +MONDO:0014971 amelogenesis imperfecta, hypomaturation type, IIa6; AI2A6 http http://identifiers.org/hgnc/4519 disease_has_basis_in_dysfunction_of MONDO:0014972 chromosome 19q13.11 deletion syndrome, proximal MONDO MONDO:0000761 subclass MONDO:0014972 chromosome 19q13.11 deletion syndrome, proximal OMIM OMIM:617219 one_to_one MONDO:0014972 chromosome 19q13.11 deletion syndrome, proximal UMLS UMLS:C4311046 one_to_one @@ -88985,7 +89157,7 @@ MONDO:0014975 spastic paraplegia 78, autosomal recessive; SPG78 MONDO MONDO:0019 MONDO:0014975 spastic paraplegia 78, autosomal recessive; SPG78 OMIM OMIM:617225 one_to_one MONDO:0014975 spastic paraplegia 78, autosomal recessive; SPG78 UMLS UMLS:C4310662 one_to_one MONDO:0014975 spastic paraplegia 78, autosomal recessive; SPG78 http http://identifiers.org/hgnc/30213 disease_has_basis_in_dysfunction_of -MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO MONDO:0000732,MONDO:0005217,MONDO:0015960,MONDO:0016343,MONDO:0016578,MONDO:0019058,MONDO:0020225 subclass +MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome MONDO MONDO:0000732,MONDO:0002320,MONDO:0005217,MONDO:0015960,MONDO:0016343,MONDO:0016578,MONDO:0019058,MONDO:0020225 subclass MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome OMIM OMIM:617228 one_to_one MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome Orphanet Orphanet:478049 one_to_one MONDO:0014976 lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome UMLS UMLS:C4310661 one_to_one @@ -89013,7 +89185,7 @@ MONDO:0014981 immunodeficiency 49; IMD49 MONDO MONDO:0003778,MONDO:0003847 subcl MONDO:0014981 immunodeficiency 49; IMD49 OMIM OMIM:617237 one_to_one MONDO:0014981 immunodeficiency 49; IMD49 UMLS UMLS:C4310656 one_to_one MONDO:0014981 immunodeficiency 49; IMD49 http http://identifiers.org/hgnc/13222 disease_has_basis_in_dysfunction_of -MONDO:0014982 myopia 25, autosomal dominant; MYP25 MONDO MONDO:0001384,MONDO:0003847,MONDO:0015107 subclass +MONDO:0014982 myopia 25, autosomal dominant; MYP25 MONDO MONDO:0001384,MONDO:0002320,MONDO:0003847,MONDO:0015107 subclass MONDO:0014982 myopia 25, autosomal dominant; MYP25 OMIM OMIM:617238 one_to_one MONDO:0014982 myopia 25, autosomal dominant; MYP25 UMLS UMLS:C4310655 one_to_one MONDO:0014982 myopia 25, autosomal dominant; MYP25 http http://identifiers.org/hgnc/8547 disease_has_basis_in_dysfunction_of @@ -89212,7 +89384,7 @@ MONDO:0015027 familial isolated hyperparathyroidism UMLS UMLS:CN207422 one_to_on MONDO:0015028 48,XXYY syndrome GARD GARD:0005677 one_to_one MONDO:0015028 48,XXYY syndrome ICD10 ICD10:Q98.8 inexact MONDO:0015028 48,XXYY syndrome ICD9 ICD9:758.81 inexact -MONDO:0015028 48,XXYY syndrome MONDO MONDO:0015620,MONDO:0015983,MONDO:0017006,MONDO:0017975 subclass +MONDO:0015028 48,XXYY syndrome MONDO MONDO:0002320,MONDO:0015620,MONDO:0015983,MONDO:0017006,MONDO:0017975 subclass MONDO:0015028 48,XXYY syndrome MedDRA MedDRA:10048230 one_to_one MONDO:0015028 48,XXYY syndrome NCIT NCIT:C89801 one_to_one MONDO:0015028 48,XXYY syndrome Orphanet Orphanet:10 one_to_one @@ -89224,8 +89396,8 @@ MONDO:0015029 reticular perineurioma UMLS UMLS:CN197319 one_to_one MONDO:0015030 sclerosing perineurioma MONDO MONDO:0015031 subclass MONDO:0015030 sclerosing perineurioma Orphanet Orphanet:100001 one_to_one MONDO:0015030 sclerosing perineurioma UMLS UMLS:CN197320 one_to_one -MONDO:0015031 Extraneural perineurioma MONDO MONDO:0019404 subclass -MONDO:0015031 Extraneural perineurioma Orphanet Orphanet:100002 one_to_one +MONDO:0015031 extraneural perineurioma MONDO MONDO:0019404 subclass +MONDO:0015031 extraneural perineurioma Orphanet Orphanet:100002 one_to_one MONDO:0015032 intraneural perineurioma DOID DOID:4696 one_to_one MONDO:0015032 intraneural perineurioma GARD GARD:0010921 one_to_one MONDO:0015032 intraneural perineurioma MONDO MONDO:0019404 subclass @@ -89677,7 +89849,8 @@ MONDO:0015127 pituitary deficiency ICD10 ICD10:E23.0 inexact MONDO:0015127 pituitary deficiency MONDO MONDO:0015968 excluded_subClassOf MONDO:0015127 pituitary deficiency MONDO MONDO:0015889 subclass MONDO:0015127 pituitary deficiency Orphanet Orphanet:101957 one_to_one -MONDO:0015128 primary adrenal insufficiency MONDO MONDO:0000004,MONDO:0015124 subclass +MONDO:0015128 primary adrenal insufficiency MONDO MONDO:0000004 excluded_subClassOf +MONDO:0015128 primary adrenal insufficiency MONDO MONDO:0015124 subclass MONDO:0015128 primary adrenal insufficiency MedDRA MedDRA:10052381 one_to_one MONDO:0015128 primary adrenal insufficiency NCIT NCIT:C113172 one_to_one MONDO:0015128 primary adrenal insufficiency Orphanet Orphanet:101958 one_to_one @@ -89773,7 +89946,7 @@ MONDO:0015150 complex hereditary spastic paraplegia UMLS UMLS:C0393556,UMLS:CN19 MONDO:0015151 autosomal dominant limb-girdle muscular dystrophy DOID DOID:0110273 one_to_one MONDO:0015151 autosomal dominant limb-girdle muscular dystrophy HP HP:0000006 has_modifier MONDO:0015151 autosomal dominant limb-girdle muscular dystrophy ICD10 ICD10:G71.0 inexact -MONDO:0015151 autosomal dominant limb-girdle muscular dystrophy MONDO MONDO:0000426,MONDO:0016971 subclass +MONDO:0015151 autosomal dominant limb-girdle muscular dystrophy MONDO MONDO:0000426,MONDO:0002320,MONDO:0016971 subclass MONDO:0015151 autosomal dominant limb-girdle muscular dystrophy OMIMPS OMIMPS:159000 one_to_one MONDO:0015151 autosomal dominant limb-girdle muscular dystrophy Orphanet Orphanet:102014 one_to_one MONDO:0015151 autosomal dominant limb-girdle muscular dystrophy UMLS UMLS:CN043626,UMLS:CN228919 inexact @@ -89781,7 +89954,7 @@ MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy DOID DOID:01102 MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy HP HP:0000007 has_modifier MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy ICD10 ICD10:G71.0 inexact MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy MESH MESH:C538640 one_to_one -MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy MONDO MONDO:0006025,MONDO:0016971 subclass +MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy MONDO MONDO:0002320,MONDO:0006025,MONDO:0016971 subclass MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy OMIMPS OMIMPS:253600 one_to_one MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy Orphanet Orphanet:102015 one_to_one MONDO:0015152 autosomal recessive limb-girdle muscular dystrophy UMLS UMLS:C2931907 one_to_one @@ -90108,7 +90281,7 @@ MONDO:0015229 Bardet-Biedl syndrome DOID DOID:1935 one_to_one MONDO:0015229 Bardet-Biedl syndrome ICD10 ICD10:Q87.8,ICD10:Q87.89 inexact MONDO:0015229 Bardet-Biedl syndrome ICD9 ICD9:759.89 inexact MONDO:0015229 Bardet-Biedl syndrome MESH MESH:D020788 one_to_one -MONDO:0015229 Bardet-Biedl syndrome MONDO MONDO:0004589,MONDO:0005308,MONDO:0006025,MONDO:0015184,MONDO:0015188,MONDO:0015218,MONDO:0015890,MONDO:0016565,MONDO:0018399,MONDO:0019052,MONDO:0019741,MONDO:0020240,MONDO:0020244,MONDO:0043007 subclass +MONDO:0015229 Bardet-Biedl syndrome MONDO MONDO:0005308,MONDO:0006025,MONDO:0015184,MONDO:0015188,MONDO:0015218,MONDO:0015890,MONDO:0016565,MONDO:0018399,MONDO:0019052,MONDO:0019741,MONDO:0020240,MONDO:0020244,MONDO:0043007 subclass MONDO:0015229 Bardet-Biedl syndrome MedDRA MedDRA:10056715 one_to_one MONDO:0015229 Bardet-Biedl syndrome NCIT NCIT:C118632 one_to_one MONDO:0015229 Bardet-Biedl syndrome OMIMPS OMIMPS:209900 one_to_one @@ -90144,7 +90317,7 @@ MONDO:0015233 caudal appendage-deafness syndrome UMLS UMLS:C2931593 one_to_one MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome GARD GARD:0000381 one_to_one MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome ICD10 ICD10:Q87.8 inexact MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome MESH MESH:C537024 one_to_one -MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome Orphanet Orphanet:1129 one_to_one MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome SCTID SCTID:720501007 one_to_one MONDO:0015234 arachnodactyly-abnormal ossification-intellectual disability syndrome UMLS UMLS:C2931398 one_to_one @@ -90278,7 +90451,7 @@ MONDO:0015257 Sino-auricular heart block Orphanet Orphanet:1260 one_to_one MONDO:0015257 Sino-auricular heart block UMLS UMLS:CN199152 one_to_one MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome GARD GARD:0005036 one_to_one MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome Orphanet Orphanet:1277 one_to_one MONDO:0015259 brachydactyly-mesomelia-intellectual disability-heart defects syndrome UMLS UMLS:CN199165 one_to_one MONDO:0015260 diphyllobothriasis DOID DOID:10075 one_to_one @@ -90450,7 +90623,7 @@ MONDO:0015280 cardiofaciocutaneous syndrome DOID DOID:0060233 one_to_one MONDO:0015280 cardiofaciocutaneous syndrome GARD GARD:0009146 one_to_one MONDO:0015280 cardiofaciocutaneous syndrome ICD10 ICD10:Q87.8 inexact MONDO:0015280 cardiofaciocutaneous syndrome MESH MESH:C535579 one_to_one -MONDO:0015280 cardiofaciocutaneous syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019287,MONDO:0020297,MONDO:0021060,MONDO:0043005 subclass +MONDO:0015280 cardiofaciocutaneous syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019287,MONDO:0020297,MONDO:0021060,MONDO:0043005 subclass MONDO:0015280 cardiofaciocutaneous syndrome NCIT NCIT:C84617 one_to_one MONDO:0015280 cardiofaciocutaneous syndrome OMIMPS OMIMPS:115150 one_to_one MONDO:0015280 cardiofaciocutaneous syndrome Orphanet Orphanet:1340 one_to_one @@ -90648,7 +90821,7 @@ MONDO:0015315 neonatal brainstem dysfunction Orphanet Orphanet:137929 one_to_one MONDO:0015315 neonatal brainstem dysfunction UMLS UMLS:CN199283 one_to_one MONDO:0015316 congenital laryngeal palsy GARD GARD:0012713 one_to_one MONDO:0015316 congenital laryngeal palsy ICD10 ICD10:J38.0 inexact -MONDO:0015316 congenital laryngeal palsy MONDO MONDO:0015504,MONDO:0020009 subclass +MONDO:0015316 congenital laryngeal palsy MONDO MONDO:0002320,MONDO:0015504,MONDO:0020009 subclass MONDO:0015316 congenital laryngeal palsy Orphanet Orphanet:137932 one_to_one MONDO:0015316 congenital laryngeal palsy UMLS UMLS:C0396058 one_to_one MONDO:0015317 laryngotracheal angioma ICD10 ICD10:D18.0 inexact @@ -90791,7 +90964,7 @@ MONDO:0015349 progressive cavitating leukoencephalopathy Orphanet Orphanet:13944 MONDO:0015349 progressive cavitating leukoencephalopathy SCTID SCTID:719267003 one_to_one MONDO:0015349 progressive cavitating leukoencephalopathy UMLS UMLS:C4304840 one_to_one MONDO:0015350 17q11.2 microduplication syndrome ICD10 ICD10:Q92.3 inexact -MONDO:0015350 17q11.2 microduplication syndrome MONDO MONDO:0015983,MONDO:0016967 subclass +MONDO:0015350 17q11.2 microduplication syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0016967 subclass MONDO:0015350 17q11.2 microduplication syndrome Orphanet Orphanet:139474 one_to_one MONDO:0015350 17q11.2 microduplication syndrome SCTID SCTID:719583002 one_to_one MONDO:0015350 17q11.2 microduplication syndrome UMLS UMLS:C4304642,UMLS:CN199408 inexact @@ -90848,12 +91021,12 @@ MONDO:0015361 autosomal recessive hereditary demyelinating motor and sensory neu MONDO:0015361 autosomal recessive hereditary demyelinating motor and sensory neuropathy UMLS UMLS:CN228928 one_to_one MONDO:0015362 autosomal dominant distal hereditary motor neuropathy HP HP:0000006 has_modifier MONDO:0015362 autosomal dominant distal hereditary motor neuropathy ICD10 ICD10:G12.1 inexact -MONDO:0015362 autosomal dominant distal hereditary motor neuropathy MONDO MONDO:0000426,MONDO:0018894 subclass +MONDO:0015362 autosomal dominant distal hereditary motor neuropathy MONDO MONDO:0000426,MONDO:0002320,MONDO:0018894 subclass MONDO:0015362 autosomal dominant distal hereditary motor neuropathy Orphanet Orphanet:140465 one_to_one MONDO:0015362 autosomal dominant distal hereditary motor neuropathy UMLS UMLS:CN228930 one_to_one MONDO:0015363 autosomal recessive distal hereditary motor neuropathy HP HP:0000007 has_modifier MONDO:0015363 autosomal recessive distal hereditary motor neuropathy ICD10 ICD10:G12.2 inexact -MONDO:0015363 autosomal recessive distal hereditary motor neuropathy MONDO MONDO:0006025,MONDO:0018894 subclass +MONDO:0015363 autosomal recessive distal hereditary motor neuropathy MONDO MONDO:0002320,MONDO:0006025,MONDO:0018894 subclass MONDO:0015363 autosomal recessive distal hereditary motor neuropathy Orphanet Orphanet:140468 one_to_one MONDO:0015363 autosomal recessive distal hereditary motor neuropathy UMLS UMLS:CN228931 one_to_one MONDO:0015364 hereditary sensory and autonomic neuropathy COHD COHD:380398 one_to_one @@ -90864,7 +91037,7 @@ MONDO:0015364 hereditary sensory and autonomic neuropathy ICD10 ICD10:G60.8 inex MONDO:0015364 hereditary sensory and autonomic neuropathy ICD9 ICD9:356.2 inexact MONDO:0015364 hereditary sensory and autonomic neuropathy MESH MESH:D009477 one_to_one MONDO:0015364 hereditary sensory and autonomic neuropathy MONDO MONDO:0021152 has_modifier -MONDO:0015364 hereditary sensory and autonomic neuropathy MONDO MONDO:0002321,MONDO:0003847,MONDO:0020127 subclass +MONDO:0015364 hereditary sensory and autonomic neuropathy MONDO MONDO:0002320,MONDO:0002321,MONDO:0003847,MONDO:0020127 subclass MONDO:0015364 hereditary sensory and autonomic neuropathy NCIT NCIT:C125386 one_to_one MONDO:0015364 hereditary sensory and autonomic neuropathy OMIMPS OMIMPS:162400 one_to_one MONDO:0015364 hereditary sensory and autonomic neuropathy Orphanet Orphanet:140471 one_to_one @@ -90907,7 +91080,7 @@ MONDO:0015372 autosomal dominant macrothrombocytopenia SCTID SCTID:720521008 one MONDO:0015372 autosomal dominant macrothrombocytopenia UMLS UMLS:C4304021,UMLS:CN199474 inexact MONDO:0015373 Saldino-Mainzer syndrome GARD GARD:0008600 one_to_one MONDO:0015373 Saldino-Mainzer syndrome ICD10 ICD10:Q87.5 inexact -MONDO:0015373 Saldino-Mainzer syndrome MONDO MONDO:0004589,MONDO:0014284,MONDO:0014618,MONDO:0019695,MONDO:0019741,MONDO:0020240 subclass +MONDO:0015373 Saldino-Mainzer syndrome MONDO MONDO:0014284,MONDO:0014618,MONDO:0019695,MONDO:0019741,MONDO:0020240 subclass MONDO:0015373 Saldino-Mainzer syndrome Orphanet Orphanet:140969 one_to_one MONDO:0015374 primary central nervous system vasculitis GARD GARD:0008703 one_to_one MONDO:0015374 primary central nervous system vasculitis ICD10 ICD10:I67.7 inexact @@ -90954,7 +91127,7 @@ MONDO:0015382 lower lip fistula UBERON UBERON:0001835 disease_has_location MONDO:0015383 cervicofacial fibrochondroma MONDO MONDO:0015476 subclass MONDO:0015383 cervicofacial fibrochondroma Orphanet Orphanet:141067 one_to_one MONDO:0015384 digestive duplication cyst of the tongue ICD10 ICD10:Q38.3 inexact -MONDO:0015384 digestive duplication cyst of the tongue MONDO MONDO:0001165,MONDO:0015476,MONDO:0020009 subclass +MONDO:0015384 digestive duplication cyst of the tongue MONDO MONDO:0001165,MONDO:0002320,MONDO:0015476,MONDO:0020009 subclass MONDO:0015384 digestive duplication cyst of the tongue Orphanet Orphanet:141071 one_to_one MONDO:0015384 digestive duplication cyst of the tongue UBERON UBERON:0001723 disease_has_location MONDO:0015385 external auditory canal aplasia/hypoplasia ICD10 ICD10:Q16.1 inexact @@ -90967,7 +91140,7 @@ MONDO:0015386 epignathus (disease) Orphanet Orphanet:141077 one_to_one MONDO:0015386 epignathus (disease) SCTID SCTID:31248004 one_to_one MONDO:0015386 epignathus (disease) UMLS UMLS:C0266725 one_to_one MONDO:0015387 nasolacrimal duct cyst ICD10 ICD10:H04.6 one_to_one -MONDO:0015387 nasolacrimal duct cyst MONDO MONDO:0015503,MONDO:0015960,MONDO:0018751,MONDO:0020195,MONDO:0044984 subclass +MONDO:0015387 nasolacrimal duct cyst MONDO MONDO:0002320,MONDO:0015503,MONDO:0015960,MONDO:0018751,MONDO:0020195,MONDO:0044984 subclass MONDO:0015387 nasolacrimal duct cyst Orphanet Orphanet:141083 one_to_one MONDO:0015388 polyrrhinia ICD10 ICD10:Q30.8 inexact MONDO:0015388 polyrrhinia MONDO MONDO:0015503 subclass @@ -91168,7 +91341,7 @@ MONDO:0015430 ring chromosome 1 UMLS UMLS:CN036412 one_to_one MONDO:0015431 ring chromosome 10 GARD GARD:0001322 one_to_one MONDO:0015431 ring chromosome 10 ICD10 ICD10:Q93.2 inexact MONDO:0015431 ring chromosome 10 MESH MESH:C538086 one_to_one -MONDO:0015431 ring chromosome 10 MONDO MONDO:0015983,MONDO:0018186 subclass +MONDO:0015431 ring chromosome 10 MONDO MONDO:0002320,MONDO:0015983,MONDO:0018186 subclass MONDO:0015431 ring chromosome 10 Orphanet Orphanet:1438 one_to_one MONDO:0015431 ring chromosome 10 SCTID SCTID:86997002 one_to_one MONDO:0015431 ring chromosome 10 UMLS UMLS:C0265438,UMLS:CN037257 inexact @@ -91294,7 +91467,7 @@ MONDO:0015452 Coffin-Siris syndrome HP HP:0008398 disease_has_feature MONDO:0015452 Coffin-Siris syndrome ICD10 ICD10:Q87.1 inexact MONDO:0015452 Coffin-Siris syndrome ICD9 ICD9:759.89 inexact MONDO:0015452 Coffin-Siris syndrome MESH MESH:C536436 one_to_one -MONDO:0015452 Coffin-Siris syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019066,MONDO:0043005 subclass +MONDO:0015452 Coffin-Siris syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019066,MONDO:0043005 subclass MONDO:0015452 Coffin-Siris syndrome NCIT NCIT:C35321 one_to_one MONDO:0015452 Coffin-Siris syndrome OMIMPS OMIMPS:135900 one_to_one MONDO:0015452 Coffin-Siris syndrome Orphanet Orphanet:1465 one_to_one @@ -91364,7 +91537,7 @@ MONDO:0015462 thin ribs-tubular bones-dysmorphism syndrome UMLS UMLS:C2931543 on MONDO:0015463 craniodigital syndrome-intellectual disability syndrome GARD GARD:0004776 one_to_one MONDO:0015463 craniodigital syndrome-intellectual disability syndrome ICD10 ICD10:Q87.0 inexact MONDO:0015463 craniodigital syndrome-intellectual disability syndrome MESH MESH:C537528 one_to_one -MONDO:0015463 craniodigital syndrome-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0015463 craniodigital syndrome-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0015463 craniodigital syndrome-intellectual disability syndrome Orphanet Orphanet:1514 one_to_one MONDO:0015463 craniodigital syndrome-intellectual disability syndrome UMLS UMLS:C1839311 one_to_one MONDO:0015464 craniofrontonasal dysplasia-Poland anomaly syndrome ICD10 ICD10:Q87.8 inexact @@ -91402,7 +91575,7 @@ MONDO:0015469 craniosynostosis OMIMPS OMIMPS:123100 one_to_one MONDO:0015469 craniosynostosis Orphanet Orphanet:1531 one_to_one MONDO:0015469 craniosynostosis UMLS UMLS:C0010278 one_to_one MONDO:0015470 familial isolated dilated cardiomyopathy ICD10 ICD10:I42.0 inexact -MONDO:0015470 familial isolated dilated cardiomyopathy MONDO MONDO:0016147,MONDO:0016333 subclass +MONDO:0015470 familial isolated dilated cardiomyopathy MONDO MONDO:0002320,MONDO:0016147,MONDO:0016333 subclass MONDO:0015470 familial isolated dilated cardiomyopathy Orphanet Orphanet:154 one_to_one MONDO:0015470 familial isolated dilated cardiomyopathy UMLS UMLS:CN199609 one_to_one MONDO:0015471 benign focal seizures of adolescence ICD10 ICD10:G40.8 inexact @@ -91412,7 +91585,7 @@ MONDO:0015471 benign focal seizures of adolescence SCTID SCTID:715425000 one_to_ MONDO:0015471 benign focal seizures of adolescence UMLS UMLS:C4275141 one_to_one MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome GARD GARD:0000860 one_to_one MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome Orphanet Orphanet:1548 one_to_one MONDO:0015473 cryptorchidism-arachnodactyly-intellectual disability syndrome UMLS UMLS:CN199616 one_to_one MONDO:0015474 cryptosporidiosis COHD COHD:194265 one_to_one @@ -91589,7 +91762,7 @@ MONDO:0015515 carnitine palmitoyltransferase II deficiency GARD GARD:0001121 one MONDO:0015515 carnitine palmitoyltransferase II deficiency ICD10 ICD10:E71.3 inexact MONDO:0015515 carnitine palmitoyltransferase II deficiency ICD9 ICD9:277.85 inexact MONDO:0015515 carnitine palmitoyltransferase II deficiency MESH MESH:C535589 one_to_one -MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO MONDO:0016117,MONDO:0017716 subclass +MONDO:0015515 carnitine palmitoyltransferase II deficiency MONDO MONDO:0002320,MONDO:0016117,MONDO:0017716 subclass MONDO:0015515 carnitine palmitoyltransferase II deficiency NCIT NCIT:C114766 one_to_one MONDO:0015515 carnitine palmitoyltransferase II deficiency Orphanet Orphanet:157 one_to_one MONDO:0015515 carnitine palmitoyltransferase II deficiency SCTID SCTID:238002005 one_to_one @@ -91605,7 +91778,7 @@ MONDO:0015517 common variable immunodeficiency HP HP:0004313 disease_has_feature MONDO:0015517 common variable immunodeficiency ICD10 ICD10:D83,ICD10:D83.0,ICD10:D83.1,ICD10:D83.2,ICD10:D83.8,ICD10:D83.9 inexact MONDO:0015517 common variable immunodeficiency ICD9 ICD9:279.06 one_to_one MONDO:0015517 common variable immunodeficiency MESH MESH:D017074 one_to_one -MONDO:0015517 common variable immunodeficiency MONDO MONDO:0002334,MONDO:0015356,MONDO:0016463,MONDO:0019041 subclass +MONDO:0015517 common variable immunodeficiency MONDO MONDO:0001902,MONDO:0002334,MONDO:0015356,MONDO:0016463,MONDO:0019041 subclass MONDO:0015517 common variable immunodeficiency MedDRA MedDRA:10021449 one_to_one MONDO:0015517 common variable immunodeficiency NCIT NCIT:C26725 one_to_one MONDO:0015517 common variable immunodeficiency OMIMPS OMIMPS:607594 one_to_one @@ -92065,7 +92238,7 @@ MONDO:0015610 acquired aplastic anemia UMLS UMLS:C0271907 one_to_one MONDO:0015611 neutral lipid storage disease DOID DOID:0050729 one_to_one MONDO:0015611 neutral lipid storage disease GARD GARD:0003262 one_to_one MONDO:0015611 neutral lipid storage disease ICD10 ICD10:E75.5 inexact -MONDO:0015611 neutral lipid storage disease MONDO MONDO:0015123,MONDO:0016117,MONDO:0018120,MONDO:0019245 subclass +MONDO:0015611 neutral lipid storage disease MONDO MONDO:0002320,MONDO:0015123,MONDO:0016117,MONDO:0018120,MONDO:0019245 subclass MONDO:0015611 neutral lipid storage disease Orphanet Orphanet:165 one_to_one MONDO:0015611 neutral lipid storage disease UMLS UMLS:CN199983 one_to_one MONDO:0015612 Dent disease DOID DOID:0050699 one_to_one @@ -92182,7 +92355,7 @@ MONDO:0015631 von willebrand disease type 2N Orphanet Orphanet:166093 one_to_one MONDO:0015631 von willebrand disease type 2N SCTID SCTID:359732009 one_to_one MONDO:0015631 von willebrand disease type 2N UMLS UMLS:C1282975 one_to_one MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy ICD10 ICD10:G71.3 inexact -MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO MONDO:0015960,MONDO:0016799,MONDO:0019058 subclass +MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy MONDO MONDO:0002320,MONDO:0015960,MONDO:0016799,MONDO:0019058 subclass MONDO:0015632 FASTKD2-related infantile mitochondrial encephalomyopathy Orphanet Orphanet:166105 one_to_one MONDO:0015633 Bazex syndrome ICD9 ICD9:757.39 inexact MONDO:0015633 Bazex syndrome MONDO MONDO:0015945,MONDO:0019043,MONDO:0019546 subclass @@ -92278,10 +92451,10 @@ MONDO:0015651 neurocutaneous syndrome with epilepsy MONDO MONDO:0042983 subclass MONDO:0015651 neurocutaneous syndrome with epilepsy Orphanet Orphanet:166466 one_to_one MONDO:0015651 neurocutaneous syndrome with epilepsy UMLS UMLS:CN200062 one_to_one MONDO:0015652 chromosomal anomaly with epilepsy as a major feature MONDO MONDO:0005027 disease_has_major_feature -MONDO:0015652 chromosomal anomaly with epilepsy as a major feature MONDO MONDO:0015955,MONDO:0019040 subclass +MONDO:0015652 chromosomal anomaly with epilepsy as a major feature MONDO MONDO:0002320,MONDO:0015955,MONDO:0019040 subclass MONDO:0015652 chromosomal anomaly with epilepsy as a major feature Orphanet Orphanet:166469 one_to_one MONDO:0015653 monogenic disease with epilepsy MONDO MONDO:0005027 disease_has_major_feature -MONDO:0015653 monogenic disease with epilepsy MONDO MONDO:0000275,MONDO:0015955,MONDO:0017656 subclass +MONDO:0015653 monogenic disease with epilepsy MONDO MONDO:0000275,MONDO:0002320,MONDO:0015955,MONDO:0017656 subclass MONDO:0015653 monogenic disease with epilepsy Orphanet Orphanet:166472 one_to_one MONDO:0015653 monogenic disease with epilepsy UMLS UMLS:CN200063 one_to_one MONDO:0015654 idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes MONDO MONDO:0015955 subclass @@ -92370,10 +92543,6 @@ MONDO:0015675 distomatosis ICD9 ICD9:121.8,ICD9:121.9 inexact MONDO:0015675 distomatosis MONDO MONDO:0015577 subclass MONDO:0015675 distomatosis Orphanet Orphanet:1685 one_to_one MONDO:0015675 distomatosis SCTID SCTID:26089000 one_to_one -MONDO:0015676 hyperandrogenism due to cortisone reductase deficiency ICD10 ICD10:E25.8 inexact -MONDO:0015676 hyperandrogenism due to cortisone reductase deficiency MONDO MONDO:0015898,MONDO:0016072 subclass -MONDO:0015676 hyperandrogenism due to cortisone reductase deficiency Orphanet Orphanet:168588 one_to_one -MONDO:0015676 hyperandrogenism due to cortisone reductase deficiency UMLS UMLS:CN200166 one_to_one MONDO:0015677 cardiac diverticulum (disease) GARD GARD:0001094 one_to_one MONDO:0015677 cardiac diverticulum (disease) HP HP:0100571 one_to_one MONDO:0015677 cardiac diverticulum (disease) ICD10 ICD10:Q24.8 inexact @@ -92511,7 +92680,7 @@ MONDO:0015704 familial scaphocephaly syndrome Orphanet Orphanet:169163 one_to_on MONDO:0015705 autosomal recessive centronuclear myopathy GARD GARD:0012718 one_to_one MONDO:0015705 autosomal recessive centronuclear myopathy HP HP:0000007 has_modifier MONDO:0015705 autosomal recessive centronuclear myopathy ICD10 ICD10:G71.2 inexact -MONDO:0015705 autosomal recessive centronuclear myopathy MONDO MONDO:0006025,MONDO:0016191,MONDO:0018947 subclass +MONDO:0015705 autosomal recessive centronuclear myopathy MONDO MONDO:0002320,MONDO:0006025,MONDO:0016191,MONDO:0018947 subclass MONDO:0015705 autosomal recessive centronuclear myopathy Orphanet Orphanet:169186 one_to_one MONDO:0015705 autosomal recessive centronuclear myopathy SCTID SCTID:240081004 one_to_one MONDO:0015705 autosomal recessive centronuclear myopathy UMLS UMLS:C3645536 one_to_one @@ -92873,7 +93042,7 @@ MONDO:0015780 dyskeratosis congenita UMLS UMLS:C0265965 one_to_one MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome GARD GARD:0004778 one_to_one MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome ICD10 ICD10:Q87.8 inexact MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome MESH MESH:C537529 one_to_one -MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome Orphanet Orphanet:1778 one_to_one MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome SCTID SCTID:716337006 one_to_one MONDO:0015781 facial dysmorphism-shawl scrotum-joint laxity syndrome UMLS UMLS:C2931522 one_to_one @@ -92977,7 +93146,7 @@ MONDO:0015801 hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation MONDO:0015802 autosomal dominant non-syndromic intellectual disability DOID DOID:0060307 one_to_one MONDO:0015802 autosomal dominant non-syndromic intellectual disability GARD GARD:0012107 one_to_one MONDO:0015802 autosomal dominant non-syndromic intellectual disability HP HP:0000006 has_modifier -MONDO:0015802 autosomal dominant non-syndromic intellectual disability MONDO MONDO:0000426,MONDO:0000509,MONDO:0015108 subclass +MONDO:0015802 autosomal dominant non-syndromic intellectual disability MONDO MONDO:0000426,MONDO:0000509,MONDO:0002320,MONDO:0015108 subclass MONDO:0015802 autosomal dominant non-syndromic intellectual disability OMIMPS OMIMPS:156200 one_to_one MONDO:0015802 autosomal dominant non-syndromic intellectual disability Orphanet Orphanet:178469 one_to_one MONDO:0015802 autosomal dominant non-syndromic intellectual disability UMLS UMLS:CN200399 one_to_one @@ -93552,9 +93721,11 @@ MONDO:0015937 rare inflammatory eye disease MONDO MONDO:0015120 excluded_subClas MONDO:0015937 rare inflammatory eye disease MONDO MONDO:0005328 subclass MONDO:0015937 rare inflammatory eye disease Orphanet Orphanet:182214 one_to_one MONDO:0015937 rare inflammatory eye disease UMLS UMLS:CN200527 one_to_one +MONDO:0015938 systemic disease ICD9 ICD9:799.89 inexact MONDO:0015938 systemic disease MONDO MONDO:0020012 subclass MONDO:0015938 systemic disease NCIT NCIT:C9229 one_to_one MONDO:0015938 systemic disease Orphanet Orphanet:182222 one_to_one +MONDO:0015938 systemic disease SCTID SCTID:281867008 one_to_one MONDO:0015938 systemic disease UMLS UMLS:C0442893 one_to_one MONDO:0015939 systemic autoimmune disease HP HP:0002960 disease_arises_from_feature MONDO:0015939 systemic autoimmune disease MONDO MONDO:0007179,MONDO:0015938 subclass @@ -93566,7 +93737,7 @@ MONDO:0015940 rare rheumatologic disease Orphanet Orphanet:182231 one_to_one MONDO:0015940 rare rheumatologic disease UMLS UMLS:CN200530 one_to_one MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome GARD GARD:0002178 one_to_one MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome ICD10 ICD10:Q87.0 inexact -MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome Orphanet Orphanet:1825 one_to_one MONDO:0015941 epiphyseal dysplasia-hearing loss-dysmorphism syndrome UMLS UMLS:CN200532 one_to_one MONDO:0015942 frontometaphyseal dysplasia DC DC:0000731 one_to_one @@ -93680,7 +93851,7 @@ MONDO:0015965 rare genetic refraction anomaly MONDO MONDO:0015107 subclass MONDO:0015965 rare genetic refraction anomaly Orphanet Orphanet:183601 one_to_one MONDO:0015965 rare genetic refraction anomaly UMLS UMLS:CN226813 one_to_one MONDO:0015966 hereditary eye tumor MONDO MONDO:0021152 has_modifier -MONDO:0015966 hereditary eye tumor MONDO MONDO:0005070,MONDO:0015107,MONDO:0015121,MONDO:0019041 subclass +MONDO:0015966 hereditary eye tumor MONDO MONDO:0002320,MONDO:0005070,MONDO:0015107,MONDO:0015121,MONDO:0019041 subclass MONDO:0015966 hereditary eye tumor Orphanet Orphanet:183619 one_to_one MONDO:0015966 hereditary eye tumor UBERON UBERON:0010230 disease_has_location MONDO:0015966 hereditary eye tumor UMLS UMLS:CN200566 one_to_one @@ -93832,7 +94003,7 @@ MONDO:0015998 isolated ectopia lentis DOID DOID:0111148 one_to_one MONDO:0015998 isolated ectopia lentis GARD GARD:0012251 one_to_one MONDO:0015998 isolated ectopia lentis ICD10 ICD10:Q12.1 inexact MONDO:0015998 isolated ectopia lentis MESH MESH:C536184 one_to_one -MONDO:0015998 isolated ectopia lentis MONDO MONDO:0001176,MONDO:0017310,MONDO:0020236 subclass +MONDO:0015998 isolated ectopia lentis MONDO MONDO:0001176,MONDO:0002320,MONDO:0017310,MONDO:0020236 subclass MONDO:0015998 isolated ectopia lentis MedDRA MedDRA:10014145 one_to_one MONDO:0015998 isolated ectopia lentis NCIT NCIT:C34566 one_to_one MONDO:0015998 isolated ectopia lentis Orphanet Orphanet:1885 one_to_one @@ -93842,7 +94013,7 @@ MONDO:0015999 primary pigmented nodular adrenocortical disease DC DC:0000357 one MONDO:0015999 primary pigmented nodular adrenocortical disease DOID DOID:0060280 one_to_one MONDO:0015999 primary pigmented nodular adrenocortical disease GARD GARD:0010906 one_to_one MONDO:0015999 primary pigmented nodular adrenocortical disease ICD10 ICD10:E24.8 inexact -MONDO:0015999 primary pigmented nodular adrenocortical disease MONDO MONDO:0015971,MONDO:0018406,MONDO:0018412,MONDO:0020529 subclass +MONDO:0015999 primary pigmented nodular adrenocortical disease MONDO MONDO:0015971,MONDO:0020529 subclass MONDO:0015999 primary pigmented nodular adrenocortical disease NCIT NCIT:C131196 one_to_one MONDO:0015999 primary pigmented nodular adrenocortical disease OMIMPS OMIMPS:610489 one_to_one MONDO:0015999 primary pigmented nodular adrenocortical disease Orphanet Orphanet:189439 one_to_one @@ -93866,7 +94037,7 @@ MONDO:0016001 2-hydroxyglutaric aciduria UMLS UMLS:C2746066 one_to_one MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type GARD GARD:0002083 one_to_one MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type ICD10 ICD10:Q79.6 inexact MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type MESH MESH:C536198 one_to_one -MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO MONDO:0006025,MONDO:0020066,MONDO:0020272 subclass +MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type MONDO MONDO:0002320,MONDO:0006025,MONDO:0020066,MONDO:0020272 subclass MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type NCIT NCIT:C125700 one_to_one MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type OMIM OMIM:225400 one_to_one MONDO:0016002 Ehlers-Danlos syndrome, kyphoscoliotic type Orphanet Orphanet:1900 one_to_one @@ -93905,7 +94076,7 @@ MONDO:0016006 Cockayne syndrome HP HP:0000992,HP:0001510 disease_has_feature MONDO:0016006 Cockayne syndrome ICD10 ICD10:Q87.1 inexact MONDO:0016006 Cockayne syndrome ICD9 ICD9:759.89 inexact MONDO:0016006 Cockayne syndrome MESH MESH:D003057 one_to_one -MONDO:0016006 Cockayne syndrome MONDO MONDO:0004589,MONDO:0004884,MONDO:0006025,MONDO:0015327,MONDO:0015331,MONDO:0015333,MONDO:0015945,MONDO:0015983,MONDO:0019052,MONDO:0019303,MONDO:0019589,MONDO:0020240,MONDO:0021190,MONDO:0024237 subclass +MONDO:0016006 Cockayne syndrome MONDO MONDO:0004884,MONDO:0006025,MONDO:0015327,MONDO:0015331,MONDO:0015333,MONDO:0015945,MONDO:0015983,MONDO:0019052,MONDO:0019303,MONDO:0019589,MONDO:0020240,MONDO:0021190,MONDO:0024237 subclass MONDO:0016006 Cockayne syndrome MedDRA MedDRA:10009835 one_to_one MONDO:0016006 Cockayne syndrome NCIT NCIT:C9460 one_to_one MONDO:0016006 Cockayne syndrome Orphanet Orphanet:191 one_to_one @@ -93948,7 +94119,7 @@ MONDO:0016010 vitamin K-antagonist embryofetopathy SCTID SCTID:38323006 one_to_o MONDO:0016010 vitamin K-antagonist embryofetopathy UMLS UMLS:C0265374 one_to_one MONDO:0016011 fetal alcohol syndrome DOID DOID:0050665,DOID:0050667 inexact MONDO:0016011 fetal alcohol syndrome ICD10 ICD10:Q86.0 one_to_one -MONDO:0016011 fetal alcohol syndrome MONDO MONDO:0000408,MONDO:0002254,MONDO:0015323,MONDO:0016677,MONDO:0019117 subclass +MONDO:0016011 fetal alcohol syndrome MONDO MONDO:0000408,MONDO:0002254,MONDO:0002320,MONDO:0015323,MONDO:0016677,MONDO:0019117 subclass MONDO:0016011 fetal alcohol syndrome MedDRA MedDRA:10016845 one_to_one MONDO:0016011 fetal alcohol syndrome NCIT NCIT:C84713 one_to_one MONDO:0016011 fetal alcohol syndrome Orphanet Orphanet:1915 one_to_one @@ -94027,7 +94198,7 @@ MONDO:0016022 early myoclonic encephalopathy DOID DOID:308 one_to_one MONDO:0016022 early myoclonic encephalopathy EFO EFO:1001900 one_to_one MONDO:0016022 early myoclonic encephalopathy GARD GARD:0007142 one_to_one MONDO:0016022 early myoclonic encephalopathy ICD10 ICD10:G40.4 inexact -MONDO:0016022 early myoclonic encephalopathy MONDO MONDO:0000412,MONDO:0015960,MONDO:0016801,MONDO:0100022 subclass +MONDO:0016022 early myoclonic encephalopathy MONDO MONDO:0000412,MONDO:0002320,MONDO:0015960,MONDO:0016801,MONDO:0100022 subclass MONDO:0016022 early myoclonic encephalopathy NCIT NCIT:C116593 one_to_one MONDO:0016022 early myoclonic encephalopathy Orphanet Orphanet:1935 one_to_one MONDO:0016022 early myoclonic encephalopathy SCTID SCTID:44423001 one_to_one @@ -94100,7 +94271,7 @@ MONDO:0016032 femoral agenesis/hypoplasia SCTID SCTID:93255008 one_to_one MONDO:0016033 Cornelia de Lange syndrome DOID DOID:11725 one_to_one MONDO:0016033 Cornelia de Lange syndrome GARD GARD:0010109 one_to_one MONDO:0016033 Cornelia de Lange syndrome ICD10 ICD10:Q87.1 inexact -MONDO:0016033 Cornelia de Lange syndrome MONDO MONDO:0015159,MONDO:0015216,MONDO:0015322,MONDO:0015329,MONDO:0015880,MONDO:0015983,MONDO:0017432,MONDO:0018455,MONDO:0020169,MONDO:0020186,MONDO:0020253,MONDO:0043005 subclass +MONDO:0016033 Cornelia de Lange syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015216,MONDO:0015322,MONDO:0015329,MONDO:0015880,MONDO:0015983,MONDO:0017432,MONDO:0018455,MONDO:0020169,MONDO:0020186,MONDO:0020253,MONDO:0043005 subclass MONDO:0016033 Cornelia de Lange syndrome MedDRA MedDRA:10056354 one_to_one MONDO:0016033 Cornelia de Lange syndrome NCIT NCIT:C75016 one_to_one MONDO:0016033 Cornelia de Lange syndrome OMIMPS OMIMPS:122470 one_to_one @@ -94207,7 +94378,7 @@ MONDO:0016050 thiamine-responsive encephalopathy Orphanet Orphanet:199348 one_to MONDO:0016051 cleft lip-retinopathy syndrome GARD GARD:0000435 one_to_one MONDO:0016051 cleft lip-retinopathy syndrome ICD10 ICD10:Q87.8 inexact MONDO:0016051 cleft lip-retinopathy syndrome MESH MESH:C538272 one_to_one -MONDO:0016051 cleft lip-retinopathy syndrome MONDO MONDO:0004589,MONDO:0015335,MONDO:0015958,MONDO:0020240,MONDO:0043008 subclass +MONDO:0016051 cleft lip-retinopathy syndrome MONDO MONDO:0015335,MONDO:0015958,MONDO:0020240,MONDO:0043008 subclass MONDO:0016051 cleft lip-retinopathy syndrome Orphanet Orphanet:1995 one_to_one MONDO:0016051 cleft lip-retinopathy syndrome UMLS UMLS:C2931789 one_to_one MONDO:0016052 atypical autism ICD10 ICD10:F84.1 inexact @@ -94278,7 +94449,7 @@ MONDO:0016064 cleft palate SCTID SCTID:63567004 one_to_one MONDO:0016064 cleft palate UMLS UMLS:C0008925 one_to_one MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome GARD GARD:0001392 one_to_one MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome ICD10 ICD10:Q87.0 inexact -MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome MONDO MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass +MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome Orphanet Orphanet:2015 one_to_one MONDO:0016065 cleft palate-short stature-vertebral anomalies syndrome SCTID SCTID:719466009 one_to_one MONDO:0016066 sternal cleft GARD GARD:0005012 one_to_one @@ -94386,10 +94557,16 @@ MONDO:0016085 Cole-Carpenter syndrome NCIT NCIT:C130985 one_to_one MONDO:0016085 Cole-Carpenter syndrome OMIMPS OMIMPS:112240 one_to_one MONDO:0016085 Cole-Carpenter syndrome Orphanet Orphanet:2050 one_to_one MONDO:0016085 Cole-Carpenter syndrome UMLS UMLS:C1862178 one_to_one +MONDO:0016086 osteochondritis of tarsal/metatarsal bone COHD COHD:435903 one_to_one +MONDO:0016086 osteochondritis of tarsal/metatarsal bone DOID DOID:11760 one_to_one +MONDO:0016086 osteochondritis of tarsal/metatarsal bone GARD GARD:0006842 one_to_one +MONDO:0016086 osteochondritis of tarsal/metatarsal bone HP HP:0010885 disease_has_feature MONDO:0016086 osteochondritis of tarsal/metatarsal bone ICD10 ICD10:M93.2 inexact +MONDO:0016086 osteochondritis of tarsal/metatarsal bone ICD9 ICD9:732.5 one_to_one MONDO:0016086 osteochondritis of tarsal/metatarsal bone MONDO MONDO:0018381 subclass MONDO:0016086 osteochondritis of tarsal/metatarsal bone Orphanet Orphanet:2054 one_to_one -MONDO:0016086 osteochondritis of tarsal/metatarsal bone UMLS UMLS:CN200840 one_to_one +MONDO:0016086 osteochondritis of tarsal/metatarsal bone SCTID SCTID:203392007 one_to_one +MONDO:0016086 osteochondritis of tarsal/metatarsal bone UMLS UMLS:C0158444,UMLS:CN200840 inexact MONDO:0016087 progressive non-infectious anterior vertebral fusion ICD10 ICD10:Q87.8 inexact MONDO:0016087 progressive non-infectious anterior vertebral fusion MONDO MONDO:0019711,MONDO:0043008 subclass MONDO:0016087 progressive non-infectious anterior vertebral fusion Orphanet Orphanet:2062 one_to_one @@ -94501,12 +94678,12 @@ MONDO:0016107 myotonic dystrophy SCTID SCTID:240104008 one_to_one MONDO:0016107 myotonic dystrophy UMLS UMLS:C0027126 one_to_one MONDO:0016108 autosomal dominant distal myopathy HP HP:0000006 has_modifier MONDO:0016108 autosomal dominant distal myopathy ICD10 ICD10:G71.0 inexact -MONDO:0016108 autosomal dominant distal myopathy MONDO MONDO:0000426,MONDO:0018949 subclass +MONDO:0016108 autosomal dominant distal myopathy MONDO MONDO:0000426,MONDO:0002320,MONDO:0018949 subclass MONDO:0016108 autosomal dominant distal myopathy Orphanet Orphanet:206650 one_to_one MONDO:0016108 autosomal dominant distal myopathy UMLS UMLS:CN229018 one_to_one MONDO:0016109 autosomal recessive distal myopathy HP HP:0000007 has_modifier MONDO:0016109 autosomal recessive distal myopathy ICD10 ICD10:G71.0 inexact -MONDO:0016109 autosomal recessive distal myopathy MONDO MONDO:0006025,MONDO:0018949 subclass +MONDO:0016109 autosomal recessive distal myopathy MONDO MONDO:0002320,MONDO:0006025,MONDO:0018949 subclass MONDO:0016109 autosomal recessive distal myopathy Orphanet Orphanet:206653 one_to_one MONDO:0016109 autosomal recessive distal myopathy UMLS UMLS:CN229019 one_to_one MONDO:0016110 non-dystrophic myopathy MONDO MONDO:0005336,MONDO:0020120,MONDO:0020127 subclass @@ -94670,7 +94847,7 @@ MONDO:0016153 qualitative or quantitative defects of TRIM32 PR PR:000016654 dise MONDO:0016154 qualitative or quantitative defects of myotubularin MONDO MONDO:0000001,MONDO:0016139 subclass MONDO:0016154 qualitative or quantitative defects of myotubularin Orphanet Orphanet:207110 one_to_one MONDO:0016154 qualitative or quantitative defects of myotubularin PR PR:000010730 disease_has_basis_in_dysfunction_of -MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan MONDO MONDO:0017741,MONDO:0018282 subclass +MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan MONDO MONDO:0002320,MONDO:0017741,MONDO:0018282 subclass MONDO:0016155 qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan Orphanet Orphanet:207113 one_to_one MONDO:0016156 qualitative or quantitative defects of FKRP MONDO MONDO:0016155 subclass MONDO:0016156 qualitative or quantitative defects of FKRP Orphanet Orphanet:207119 one_to_one @@ -94753,7 +94930,7 @@ MONDO:0016175 cutis laxa DOID DOID:3144 one_to_one MONDO:0016175 cutis laxa GARD GARD:0006227 one_to_one MONDO:0016175 cutis laxa ICD10 ICD10:Q82.8 inexact MONDO:0016175 cutis laxa MESH MESH:D003483 one_to_one -MONDO:0016175 cutis laxa MONDO MONDO:0015216,MONDO:0015331,MONDO:0015332,MONDO:0015880,MONDO:0019292,MONDO:0020159 subclass +MONDO:0016175 cutis laxa MONDO MONDO:0002320,MONDO:0015216,MONDO:0015331,MONDO:0015332,MONDO:0015880,MONDO:0019292,MONDO:0020159 subclass MONDO:0016175 cutis laxa MedDRA MedDRA:10011692 one_to_one MONDO:0016175 cutis laxa NCIT NCIT:C84663 one_to_one MONDO:0016175 cutis laxa OMIMPS OMIMPS:123700 one_to_one @@ -94934,7 +95111,7 @@ MONDO:0016223 infantile hemangioma of rare localization SCTID SCTID:703270004 on MONDO:0016223 infantile hemangioma of rare localization UMLS UMLS:C3839613,UMLS:CN226884 inexact MONDO:0016224 autosomal dominant proximal spinal muscular atrophy HP HP:0000006 has_modifier MONDO:0016224 autosomal dominant proximal spinal muscular atrophy ICD10 ICD10:G12.1 inexact -MONDO:0016224 autosomal dominant proximal spinal muscular atrophy MONDO MONDO:0000426,MONDO:0019079 subclass +MONDO:0016224 autosomal dominant proximal spinal muscular atrophy MONDO MONDO:0000426,MONDO:0002320,MONDO:0019079 subclass MONDO:0016224 autosomal dominant proximal spinal muscular atrophy Orphanet Orphanet:211037 one_to_one MONDO:0016224 autosomal dominant proximal spinal muscular atrophy UMLS UMLS:CN229044 one_to_one MONDO:0016225 specific learning disability MESH MESH:D000067559 one_to_one @@ -95108,7 +95285,7 @@ MONDO:0016256 Hennekam syndrome DOID DOID:0060366 one_to_one MONDO:0016256 Hennekam syndrome GARD GARD:0003318 one_to_one MONDO:0016256 Hennekam syndrome ICD10 ICD10:Q87.8 inexact MONDO:0016256 Hennekam syndrome ICD9 ICD9:457.1 inexact -MONDO:0016256 Hennekam syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016229,MONDO:0018035,MONDO:0018722,MONDO:0019520,MONDO:0043218 subclass +MONDO:0016256 Hennekam syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016229,MONDO:0018035,MONDO:0018722,MONDO:0019520,MONDO:0043218 subclass MONDO:0016256 Hennekam syndrome Orphanet Orphanet:2136 one_to_one MONDO:0016256 Hennekam syndrome SCTID SCTID:234146006 one_to_one MONDO:0016256 Hennekam syndrome UMLS UMLS:C0340834 one_to_one @@ -95262,7 +95439,7 @@ MONDO:0016289 malignant germ cell tumor of cervix uteri UBERON UBERON:0000002 di MONDO:0016289 malignant germ cell tumor of cervix uteri UMLS UMLS:CN201079 one_to_one MONDO:0016290 Hern GARD GARD:0003491 one_to_one MONDO:0016290 Hern ICD10 ICD10:Q87.8 inexact -MONDO:0016290 Hern MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0016290 Hern MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0016290 Hern Orphanet Orphanet:2139 one_to_one MONDO:0016290 Hern SCTID SCTID:721146009 one_to_one MONDO:0016291 craniosynostosis, Herrmann-Opitz type GARD GARD:0002671 one_to_one @@ -95279,7 +95456,7 @@ MONDO:0016293 congenital stationary night blindness DOID DOID:0050534 one_to_one MONDO:0016293 congenital stationary night blindness ICD10 ICD10:H53.6,ICD10:H53.63 inexact MONDO:0016293 congenital stationary night blindness ICD9 ICD9:368.61 inexact MONDO:0016293 congenital stationary night blindness MESH MESH:C536122 one_to_one -MONDO:0016293 congenital stationary night blindness MONDO MONDO:0004588,MONDO:0020241 subclass +MONDO:0016293 congenital stationary night blindness MONDO MONDO:0004587,MONDO:0020241 subclass MONDO:0016293 congenital stationary night blindness OMIMPS OMIMPS:310500 one_to_one MONDO:0016293 congenital stationary night blindness Orphanet Orphanet:215 one_to_one MONDO:0016293 congenital stationary night blindness SCTID SCTID:232061009 one_to_one @@ -95293,7 +95470,7 @@ MONDO:0016294 Hirschsprung disease-type D brachydactyly syndrome UMLS UMLS:C1844 MONDO:0016295 neuronal ceroid lipofuscinosis DOID DOID:14503 one_to_one MONDO:0016295 neuronal ceroid lipofuscinosis GARD GARD:0010739 one_to_one MONDO:0016295 neuronal ceroid lipofuscinosis ICD10 ICD10:E75.4 inexact -MONDO:0016295 neuronal ceroid lipofuscinosis MONDO MONDO:0004589,MONDO:0004884,MONDO:0015123,MONDO:0016397,MONDO:0019058,MONDO:0019245,MONDO:0020244,MONDO:0024237 subclass +MONDO:0016295 neuronal ceroid lipofuscinosis MONDO MONDO:0004884,MONDO:0015123,MONDO:0016397,MONDO:0019058,MONDO:0019245,MONDO:0020244,MONDO:0024237 subclass MONDO:0016295 neuronal ceroid lipofuscinosis NCIT NCIT:C61257 one_to_one MONDO:0016295 neuronal ceroid lipofuscinosis OMIMPS OMIMPS:256730 one_to_one MONDO:0016295 neuronal ceroid lipofuscinosis Orphanet Orphanet:216 one_to_one @@ -95303,7 +95480,7 @@ MONDO:0016296 holoprosencephaly DOID DOID:4621 one_to_one MONDO:0016296 holoprosencephaly GARD GARD:0006665 one_to_one MONDO:0016296 holoprosencephaly ICD10 ICD10:Q04.2 inexact MONDO:0016296 holoprosencephaly MESH MESH:D016142 one_to_one -MONDO:0016296 holoprosencephaly MONDO MONDO:0002320,MONDO:0015159,MONDO:0015655,MONDO:0015983,MONDO:0017090,MONDO:0019827 subclass +MONDO:0016296 holoprosencephaly MONDO MONDO:0015159,MONDO:0015655,MONDO:0015983,MONDO:0017090,MONDO:0019827 subclass MONDO:0016296 holoprosencephaly MedDRA MedDRA:10056304 one_to_one MONDO:0016296 holoprosencephaly NCIT NCIT:C74988 one_to_one MONDO:0016296 holoprosencephaly OMIMPS OMIMPS:236100 one_to_one @@ -95463,7 +95640,7 @@ MONDO:0016333 familial dilated cardiomyopathy MONDO MONDO:0005021,MONDO:0005217 MONDO:0016333 familial dilated cardiomyopathy OMIMPS OMIMPS:115200 one_to_one MONDO:0016333 familial dilated cardiomyopathy Orphanet Orphanet:217607 one_to_one MONDO:0016333 familial dilated cardiomyopathy UMLS UMLS:C0340427 one_to_one -MONDO:0016334 neuromuscular disease with dilated cardiomyopathy MONDO MONDO:0016333,MONDO:0019056,MONDO:0020127 subclass +MONDO:0016334 neuromuscular disease with dilated cardiomyopathy MONDO MONDO:0002320,MONDO:0016333,MONDO:0019056,MONDO:0020127 subclass MONDO:0016334 neuromuscular disease with dilated cardiomyopathy Orphanet Orphanet:217610 one_to_one MONDO:0016334 neuromuscular disease with dilated cardiomyopathy UMLS UMLS:CN201165 one_to_one MONDO:0016335 mitochondrial disease with dilated cardiomyopathy MONDO MONDO:0004069,MONDO:0015960,MONDO:0016333 subclass @@ -95521,7 +95698,7 @@ MONDO:0016348 non-genetic cardiac rhythm disease Orphanet Orphanet:218439 one_to MONDO:0016348 non-genetic cardiac rhythm disease UMLS UMLS:CN201186 one_to_one MONDO:0016349 congenital hydrocephalus COHD COHD:438244 one_to_one MONDO:0016349 congenital hydrocephalus ICD10 ICD10:Q03,ICD10:Q03.0,ICD10:Q03.1,ICD10:Q03.8,ICD10:Q03.9 inexact -MONDO:0016349 congenital hydrocephalus MONDO MONDO:0001150,MONDO:0002320,MONDO:0015219,MONDO:0015952,MONDO:0015960 subclass +MONDO:0016349 congenital hydrocephalus MONDO MONDO:0001150,MONDO:0015219,MONDO:0015952,MONDO:0015960 subclass MONDO:0016349 congenital hydrocephalus MedDRA MedDRA:10010506 one_to_one MONDO:0016349 congenital hydrocephalus NCIT NCIT:C98876 one_to_one MONDO:0016349 congenital hydrocephalus Orphanet Orphanet:2185 one_to_one @@ -95543,7 +95720,7 @@ MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome MESH MESH:C538 MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome MONDO MONDO:0007853,MONDO:0017679 subclass MONDO:0016353 palmoplantar keratoderma-spastic paralysis syndrome Orphanet Orphanet:2201 one_to_one MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex ICD10 ICD10:Q82.1,ICD10:Q87.1 inexact -MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO MONDO:0004589,MONDO:0015331,MONDO:0015333,MONDO:0015945,MONDO:0015951,MONDO:0015983,MONDO:0019303,MONDO:0019304,MONDO:0019589,MONDO:0020045,MONDO:0020240 subclass +MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex MONDO MONDO:0015331,MONDO:0015333,MONDO:0015945,MONDO:0015951,MONDO:0015983,MONDO:0019303,MONDO:0019304,MONDO:0019589,MONDO:0020045,MONDO:0020240 subclass MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex Orphanet Orphanet:220295 one_to_one MONDO:0016354 xeroderma pigmentosum-Cockayne syndrome complex UMLS UMLS:CN201205 one_to_one MONDO:0016355 Semilobar holoprosencephaly ICD10 ICD10:Q04.2 inexact @@ -95595,7 +95772,7 @@ MONDO:0016363 rare hereditary hemochromatosis Orphanet Orphanet:220489 one_to_on MONDO:0016363 rare hereditary hemochromatosis SCTID SCTID:35400008 one_to_one MONDO:0016364 Joubert syndrome with ocular defect GARD GARD:0010168 one_to_one MONDO:0016364 Joubert syndrome with ocular defect ICD10 ICD10:H35.5,ICD10:Q04.3 inexact -MONDO:0016364 Joubert syndrome with ocular defect MONDO MONDO:0004589,MONDO:0015369,MONDO:0020240,MONDO:0020253,MONDO:0020258 subclass +MONDO:0016364 Joubert syndrome with ocular defect MONDO MONDO:0015369,MONDO:0020240,MONDO:0020253,MONDO:0020258 subclass MONDO:0016364 Joubert syndrome with ocular defect Orphanet Orphanet:220493 one_to_one MONDO:0016364 Joubert syndrome with ocular defect SCTID SCTID:716998009 one_to_one MONDO:0016364 Joubert syndrome with ocular defect UMLS UMLS:C4274118,UMLS:CN201217 inexact @@ -95722,7 +95899,7 @@ MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrom MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome SCTID SCTID:721841001 one_to_one MONDO:0016385 hypogonadism-mitral valve prolapse-intellectual disability syndrome UMLS UMLS:C2931685 one_to_one MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome MESH MESH:C538075 one_to_one -MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome MONDO MONDO:0004589,MONDO:0015890,MONDO:0020240 subclass +MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome MONDO MONDO:0015890,MONDO:0020240 subclass MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome Orphanet Orphanet:2235 one_to_one MONDO:0016386 hypogonadotropic hypogonadism-retinitis pigmentosa syndrome UMLS UMLS:C2931722 one_to_one MONDO:0016387 mitochondrial oxidative phosphorylation disorder GO GO:0006119 disease_disrupts @@ -95758,7 +95935,7 @@ MONDO:0016394 sporadic infantile bilateral striatal necrosis MONDO MONDO:0015518 MONDO:0016394 sporadic infantile bilateral striatal necrosis Orphanet Orphanet:225147 one_to_one MONDO:0016395 foveal hypoplasia-presenile cataract syndrome ICD10 ICD10:H26.0 inexact MONDO:0016395 foveal hypoplasia-presenile cataract syndrome MESH MESH:C537858 one_to_one -MONDO:0016395 foveal hypoplasia-presenile cataract syndrome MONDO MONDO:0004589,MONDO:0020244 subclass +MONDO:0016395 foveal hypoplasia-presenile cataract syndrome MONDO MONDO:0020244 subclass MONDO:0016395 foveal hypoplasia-presenile cataract syndrome Orphanet Orphanet:2253 one_to_one MONDO:0016395 foveal hypoplasia-presenile cataract syndrome UMLS UMLS:C2931644 one_to_one MONDO:0016396 pontocerebellar hypoplasia type 1 GARD GARD:0010704 one_to_one @@ -95769,7 +95946,7 @@ MONDO:0016396 pontocerebellar hypoplasia type 1 Orphanet Orphanet:2254 one_to_on MONDO:0016396 pontocerebellar hypoplasia type 1 SCTID SCTID:718610008 one_to_one MONDO:0016396 pontocerebellar hypoplasia type 1 UMLS UMLS:C1843504 one_to_one MONDO:0016397 lysosomal disease with epilepsy GO GO:0005764 disease_has_basis_in_dysfunction_of -MONDO:0016397 lysosomal disease with epilepsy MONDO MONDO:0002561,MONDO:0015656,MONDO:0015955 subclass +MONDO:0016397 lysosomal disease with epilepsy MONDO MONDO:0002320,MONDO:0002561,MONDO:0015656,MONDO:0015955 subclass MONDO:0016397 lysosomal disease with epilepsy Orphanet Orphanet:225681 one_to_one MONDO:0016397 lysosomal disease with epilepsy UMLS UMLS:CN201328 one_to_one MONDO:0016398 peroxisomal disease with epilepsy MONDO MONDO:0015656 subclass @@ -95782,18 +95959,18 @@ MONDO:0016400 metal transport or utilization disorder with epilepsy MONDO MONDO: MONDO:0016400 metal transport or utilization disorder with epilepsy Orphanet Orphanet:225692 one_to_one MONDO:0016400 metal transport or utilization disorder with epilepsy UMLS UMLS:CN226914 one_to_one MONDO:0016401 energy metabolism disorder with epilepsy GO GO:0006091 disease_has_basis_in_disruption_of -MONDO:0016401 energy metabolism disorder with epilepsy MONDO MONDO:0015656,MONDO:0015955,MONDO:0019243 subclass +MONDO:0016401 energy metabolism disorder with epilepsy MONDO MONDO:0002320,MONDO:0015656,MONDO:0015955,MONDO:0019243 subclass MONDO:0016401 energy metabolism disorder with epilepsy Orphanet Orphanet:225696 one_to_one MONDO:0016401 energy metabolism disorder with epilepsy UMLS UMLS:CN226915 one_to_one MONDO:0016402 mitochondrial disease with epilepsy MONDO MONDO:0004069,MONDO:0015960,MONDO:0016401,MONDO:0100033 subclass MONDO:0016402 mitochondrial disease with epilepsy Orphanet Orphanet:225700 one_to_one MONDO:0016402 mitochondrial disease with epilepsy UMLS UMLS:CN201331 one_to_one -MONDO:0016403 mitochondrial disease with peripheral neuropathy MONDO MONDO:0004069,MONDO:0015960,MONDO:0016133 subclass +MONDO:0016403 mitochondrial disease with peripheral neuropathy MONDO MONDO:0002320,MONDO:0004069,MONDO:0015960,MONDO:0016133 subclass MONDO:0016403 mitochondrial disease with peripheral neuropathy Orphanet Orphanet:225703 one_to_one MONDO:0016403 mitochondrial disease with peripheral neuropathy UMLS UMLS:CN201332 one_to_one MONDO:0016404 metabolic neurotransmission anomaly with epilepsy MONDO MONDO:0015656 subclass MONDO:0016404 metabolic neurotransmission anomaly with epilepsy Orphanet Orphanet:225707 one_to_one -MONDO:0016405 sterol metabolism disorder with epilepsy MONDO MONDO:0015123,MONDO:0015656,MONDO:0015955,MONDO:0019256 subclass +MONDO:0016405 sterol metabolism disorder with epilepsy MONDO MONDO:0002320,MONDO:0015123,MONDO:0015656,MONDO:0015955,MONDO:0019256 subclass MONDO:0016405 sterol metabolism disorder with epilepsy Orphanet Orphanet:225710 one_to_one MONDO:0016405 sterol metabolism disorder with epilepsy UMLS UMLS:CN226918 one_to_one MONDO:0016406 other metabolic disease with epilepsy MONDO MONDO:0015656 subclass @@ -95913,7 +96090,7 @@ MONDO:0016432 heart-hand syndrome ICD10 ICD10:Q87.2 inexact MONDO:0016432 heart-hand syndrome MONDO MONDO:0015226,MONDO:0018455 subclass MONDO:0016432 heart-hand syndrome Orphanet Orphanet:228184 one_to_one MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0017978,MONDO:0020042 subclass +MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0017978,MONDO:0020042 subclass MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome Orphanet Orphanet:2282 one_to_one MONDO:0016433 dysmorphism-short stature-deafness-disorder of sex development syndrome UMLS UMLS:CN201392 one_to_one MONDO:0016434 acquired dermis elastic tissue disorder MONDO MONDO:0021141 has_modifier @@ -96291,7 +96468,7 @@ MONDO:0016512 Kabuki syndrome DOID DOID:0060473 one_to_one MONDO:0016512 Kabuki syndrome GARD GARD:0006810 one_to_one MONDO:0016512 Kabuki syndrome ICD10 ICD10:Q87.0 inexact MONDO:0016512 Kabuki syndrome MESH MESH:C537705 one_to_one -MONDO:0016512 Kabuki syndrome MONDO MONDO:0015159,MONDO:0015216,MONDO:0015246,MONDO:0015329,MONDO:0015880,MONDO:0015983,MONDO:0020159,MONDO:0020161 subclass +MONDO:0016512 Kabuki syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015216,MONDO:0015246,MONDO:0015329,MONDO:0015880,MONDO:0015983,MONDO:0020159,MONDO:0020161 subclass MONDO:0016512 Kabuki syndrome MedDRA MedDRA:10063935 one_to_one MONDO:0016512 Kabuki syndrome NCIT NCIT:C124837 one_to_one MONDO:0016512 Kabuki syndrome OMIMPS OMIMPS:147920 one_to_one @@ -96418,7 +96595,7 @@ MONDO:0016535 hypohidrotic ectodermal dysplasia GO GO:0007499,GO:0071696 disease MONDO:0016535 hypohidrotic ectodermal dysplasia HP HP:0000966 disease_has_feature MONDO:0016535 hypohidrotic ectodermal dysplasia HP HP:0007607 one_to_one MONDO:0016535 hypohidrotic ectodermal dysplasia ICD10 ICD10:Q82.4 inexact -MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO MONDO:0019287,MONDO:0020014,MONDO:0020194 subclass +MONDO:0016535 hypohidrotic ectodermal dysplasia MONDO MONDO:0002320,MONDO:0019287,MONDO:0020014,MONDO:0020194 subclass MONDO:0016535 hypohidrotic ectodermal dysplasia NCIT NCIT:C84562 one_to_one MONDO:0016535 hypohidrotic ectodermal dysplasia Orphanet Orphanet:238468 one_to_one MONDO:0016535 hypohidrotic ectodermal dysplasia SCTID SCTID:239007005 one_to_one @@ -96524,7 +96701,7 @@ MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea MONDO MONDO:0009633,MONDO:0018174 subclass MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea Orphanet Orphanet:238763 one_to_one MONDO:0016559 glaucoma secondary to spherophakia/ectopia lentis and megalocornea UMLS UMLS:CN201642 one_to_one -MONDO:0016560 ptosis-syndactyly-learning difficulties syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0016560 ptosis-syndactyly-learning difficulties syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0016560 ptosis-syndactyly-learning difficulties syndrome Orphanet Orphanet:238766 one_to_one MONDO:0016560 ptosis-syndactyly-learning difficulties syndrome UMLS UMLS:CN201643 one_to_one MONDO:0016561 1q44 microdeletion syndrome GARD GARD:0010943 one_to_one @@ -96721,7 +96898,7 @@ MONDO:0016595 inhalational anthrax MedDRA MedDRA:10035667 one_to_one MONDO:0016595 inhalational anthrax Orphanet Orphanet:247257 one_to_one MONDO:0016595 inhalational anthrax SCTID SCTID:11389007 one_to_one MONDO:0016595 inhalational anthrax UMLS UMLS:C0155866 one_to_one -MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO MONDO:0015905,MONDO:0015983,MONDO:0017748,MONDO:0018292,MONDO:0019066 subclass +MONDO:0016596 hyperphosphatasia-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015905,MONDO:0015983,MONDO:0017748,MONDO:0018292,MONDO:0019066 subclass MONDO:0016596 hyperphosphatasia-intellectual disability syndrome OMIMPS OMIMPS:239300 one_to_one MONDO:0016596 hyperphosphatasia-intellectual disability syndrome Orphanet Orphanet:247262 one_to_one MONDO:0016596 hyperphosphatasia-intellectual disability syndrome SCTID SCTID:33982008 one_to_one @@ -97333,7 +97510,8 @@ MONDO:0016703 anaplastic oligoastrocytoma NCIT NCIT:C6959 one_to_one MONDO:0016703 anaplastic oligoastrocytoma ONCOTREE ONCOTREE:AOAST one_to_one MONDO:0016703 anaplastic oligoastrocytoma Orphanet Orphanet:251663 one_to_one MONDO:0016703 anaplastic oligoastrocytoma UMLS UMLS:C0431108 one_to_one -MONDO:0016704 glial tumor of neuroepithelial tissue with unknown origin MONDO MONDO:0015917 subclass +MONDO:0016704 glial tumor of neuroepithelial tissue with unknown origin MONDO MONDO:0015917 excluded_subClassOf +MONDO:0016704 glial tumor of neuroepithelial tissue with unknown origin MONDO MONDO:0021042 subclass MONDO:0016704 glial tumor of neuroepithelial tissue with unknown origin Orphanet Orphanet:251668 one_to_one MONDO:0016704 glial tumor of neuroepithelial tissue with unknown origin UMLS UMLS:CN201948 one_to_one MONDO:0016705 angiocentric glioma ICD10 ICD10:C71.9 inexact @@ -97344,16 +97522,23 @@ MONDO:0016705 angiocentric glioma NCIT NCIT:C92552 one_to_one MONDO:0016705 angiocentric glioma ONCOTREE ONCOTREE:ANGL one_to_one MONDO:0016705 angiocentric glioma Orphanet Orphanet:251671 one_to_one MONDO:0016705 angiocentric glioma UMLS UMLS:C2363903 one_to_one -MONDO:0016706 chordoid glioma DOID DOID:3774 one_to_one -MONDO:0016706 chordoid glioma ICD10 ICD10:C71.9 inexact -MONDO:0016706 chordoid glioma MONDO MONDO:0016704 subclass -MONDO:0016706 chordoid glioma Orphanet Orphanet:251674 one_to_one -MONDO:0016706 chordoid glioma SCTID SCTID:715900001 one_to_one +MONDO:0016706 chordoid glioma of the third ventricle DOID DOID:3773,DOID:3774 inexact +MONDO:0016706 chordoid glioma of the third ventricle GARD GARD:0010636 one_to_one +MONDO:0016706 chordoid glioma of the third ventricle ICD10 ICD10:C71.9 inexact +MONDO:0016706 chordoid glioma of the third ventricle ICDO ICDO:9444/1 one_to_one +MONDO:0016706 chordoid glioma of the third ventricle MONDO MONDO:0016706 excluded_subClassOf +MONDO:0016706 chordoid glioma of the third ventricle MONDO MONDO:0002682,MONDO:0002786,MONDO:0005499,MONDO:0016704,MONDO:0021639 subclass +MONDO:0016706 chordoid glioma of the third ventricle NCIT NCIT:C5592 one_to_one +MONDO:0016706 chordoid glioma of the third ventricle ONCOTREE ONCOTREE:CHGL one_to_one +MONDO:0016706 chordoid glioma of the third ventricle Orphanet Orphanet:251674 one_to_one +MONDO:0016706 chordoid glioma of the third ventricle SCTID SCTID:715900001 one_to_one +MONDO:0016706 chordoid glioma of the third ventricle UBERON UBERON:0002286 disease_has_location MONDO:0016707 astroblastoma DOID DOID:7305 one_to_one MONDO:0016707 astroblastoma GARD GARD:0010635 one_to_one MONDO:0016707 astroblastoma ICD10 ICD10:C71.9 inexact MONDO:0016707 astroblastoma ICDO ICDO:9430/3 one_to_one -MONDO:0016707 astroblastoma MONDO MONDO:0016704,MONDO:0019781 subclass +MONDO:0016707 astroblastoma MONDO MONDO:0019781 excluded_subClassOf +MONDO:0016707 astroblastoma MONDO MONDO:0016704 subclass MONDO:0016707 astroblastoma NCIT NCIT:C36184,NCIT:C41457,NCIT:C41626 has_finding MONDO:0016707 astroblastoma NCIT NCIT:C4324 one_to_one MONDO:0016707 astroblastoma ONCOTREE ONCOTREE:ASTB one_to_one @@ -97434,7 +97619,7 @@ MONDO:0016718 choroid plexus carcinoma UBERON UBERON:0001886 disease_has_locatio MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome GARD GARD:0003632 one_to_one MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome ICD10 ICD10:Q87.8 inexact MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome MESH MESH:C537544 one_to_one -MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome Orphanet Orphanet:2519 one_to_one MONDO:0016719 microcephaly-seizures-intellectual disability-heart disease syndrome UMLS UMLS:C2931529 one_to_one MONDO:0016721 pineal tumor of neuroepithelial tissue MONDO MONDO:0015936,MONDO:0016679,MONDO:0021232 subclass @@ -97604,7 +97789,7 @@ MONDO:0016749 tumor of cranial and spinal nerves UMLS UMLS:CN201996 one_to_one MONDO:0016750 microcephaly-cleft palate syndrome GARD GARD:0008623 one_to_one MONDO:0016750 microcephaly-cleft palate syndrome ICD10 ICD10:Q87.8 inexact MONDO:0016750 microcephaly-cleft palate syndrome MESH MESH:C535622 one_to_one -MONDO:0016750 microcephaly-cleft palate syndrome MONDO MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass +MONDO:0016750 microcephaly-cleft palate syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass MONDO:0016750 microcephaly-cleft palate syndrome Orphanet Orphanet:2521 one_to_one MONDO:0016750 microcephaly-cleft palate syndrome SCTID SCTID:719394002 one_to_one MONDO:0016750 microcephaly-cleft palate syndrome UMLS UMLS:C2930954 one_to_one @@ -97768,7 +97953,7 @@ MONDO:0016778 iatrogenic botulism MONDO MONDO:0005498 subclass MONDO:0016778 iatrogenic botulism NCIT NCIT:C128345 one_to_one MONDO:0016778 iatrogenic botulism Orphanet Orphanet:254509 one_to_one MONDO:0016778 iatrogenic botulism UMLS UMLS:C4288922 one_to_one -MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0016779 multiple congenital anomalies due to 14q32.2 maternally expressed gene defect Orphanet Orphanet:254519 one_to_one MONDO:0016780 paternal 14q32.2 microdeletion syndrome ICD10 ICD10:Q93.5 inexact MONDO:0016780 paternal 14q32.2 microdeletion syndrome MONDO MONDO:0014541,MONDO:0016912,MONDO:0019052 subclass @@ -97842,7 +98027,7 @@ MONDO:0016794 maternally-inherited mitochondrial myopathy Orphanet Orphanet:2547 MONDO:0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA MONDO MONDO:0016791 subclass MONDO:0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA Orphanet Orphanet:254793 one_to_one MONDO:0016795 mitochondrial oxidative phosphorylation disorder due to a duplication of mitochondrial DNA UMLS UMLS:CN202051 one_to_one -MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form MONDO MONDO:0018158,MONDO:0019058 subclass +MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form MONDO MONDO:0002320,MONDO:0018158,MONDO:0019058 subclass MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form Orphanet Orphanet:254803 one_to_one MONDO:0016796 mitochondrial DNA depletion syndrome, encephalomyopathic form UMLS UMLS:CN202052,UMLS:CN230130 inexact MONDO:0016797 multiple mitochondrial DNA deletion syndrome MONDO MONDO:0018121 subclass @@ -97961,7 +98146,7 @@ MONDO:0016822 myalgia-eosinophilia syndrome associated with tryptophan Orphanet MONDO:0016823 mycetoma GARD GARD:0003862 one_to_one MONDO:0016823 mycetoma ICD10 ICD10:B47,ICD10:B47.0,ICD10:B47.1,ICD10:B47.9 inexact MONDO:0016823 mycetoma MESH MESH:D008271 one_to_one -MONDO:0016823 mycetoma MONDO MONDO:0015575,MONDO:0015578 subclass +MONDO:0016823 mycetoma MONDO MONDO:0000255,MONDO:0015575,MONDO:0015578 subclass MONDO:0016823 mycetoma MedDRA MedDRA:10028427 one_to_one MONDO:0016823 mycetoma NCIT NCIT:C85505 one_to_one MONDO:0016823 mycetoma Orphanet Orphanet:2583 one_to_one @@ -97972,7 +98157,7 @@ MONDO:0016824 myofibromatosis GARD GARD:0002998 one_to_one MONDO:0016824 myofibromatosis ICD10 ICD10:D48.1 inexact MONDO:0016824 myofibromatosis ICDO ICDO:8824/1 one_to_one MONDO:0016824 myofibromatosis MESH MESH:D018224 one_to_one -MONDO:0016824 myofibromatosis MONDO MONDO:0000648,MONDO:0003342,MONDO:0016123,MONDO:0017127,MONDO:0019099,MONDO:0019300,MONDO:0020015,MONDO:0020036,MONDO:0020127,MONDO:0021440,MONDO:0044335 subclass +MONDO:0016824 myofibromatosis MONDO MONDO:0000648,MONDO:0002320,MONDO:0003342,MONDO:0016123,MONDO:0017127,MONDO:0019099,MONDO:0019300,MONDO:0020036,MONDO:0020127,MONDO:0021440,MONDO:0044335 subclass MONDO:0016824 myofibromatosis NCIT NCIT:C35907,NCIT:C36000,NCIT:C36180,NCIT:C36184 has_finding MONDO:0016824 myofibromatosis NCIT NCIT:C3742 one_to_one MONDO:0016824 myofibromatosis OMIMPS OMIMPS:228550 one_to_one @@ -97990,7 +98175,7 @@ MONDO:0016826 methylmalonic acidemia with homocystinuria MESH MESH:C537359 one_t MONDO:0016826 methylmalonic acidemia with homocystinuria MONDO MONDO:0000424,MONDO:0002012,MONDO:0004737,MONDO:0019215,MONDO:0019220,MONDO:0020109 subclass MONDO:0016826 methylmalonic acidemia with homocystinuria Orphanet Orphanet:26 one_to_one MONDO:0016827 myopathy-growth delay-intellectual disability-hypospadias syndrome ICD10 ICD10:G71.8 inexact -MONDO:0016827 myopathy-growth delay-intellectual disability-hypospadias syndrome MONDO MONDO:0015620,MONDO:0015983 subclass +MONDO:0016827 myopathy-growth delay-intellectual disability-hypospadias syndrome MONDO MONDO:0002320,MONDO:0015620,MONDO:0015983 subclass MONDO:0016827 myopathy-growth delay-intellectual disability-hypospadias syndrome Orphanet Orphanet:2601 one_to_one MONDO:0016827 myopathy-growth delay-intellectual disability-hypospadias syndrome UMLS UMLS:CN230273 one_to_one MONDO:0016828 autosomal recessive sideroblastic anemia HP HP:0000007 has_modifier @@ -98574,12 +98759,12 @@ MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma ICD10 ICD10: MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma MONDO MONDO:0020516 subclass MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma Orphanet Orphanet:263339 one_to_one MONDO:0016978 poorly differentiated thymic neuroendocrine carcinoma SCTID SCTID:717921000 one_to_one -MONDO:0016979 MRCS syndrome MONDO MONDO:0008662,MONDO:0019118,MONDO:0020225 subclass +MONDO:0016979 MRCS syndrome MONDO MONDO:0019118,MONDO:0020225 subclass MONDO:0016979 MRCS syndrome Orphanet Orphanet:263347 one_to_one MONDO:0016980 ATR-X-related syndrome MONDO MONDO:0015159,MONDO:0020119,MONDO:0043005 subclass MONDO:0016980 ATR-X-related syndrome Orphanet Orphanet:263355 one_to_one MONDO:0016980 ATR-X-related syndrome UMLS UMLS:CN202282 one_to_one -MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome MONDO MONDO:0015983,MONDO:0017578 subclass +MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0017578 subclass MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome Orphanet Orphanet:263410 one_to_one MONDO:0016981 infantile spams-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome UMLS UMLS:CN202284 one_to_one MONDO:0016982 angiosarcoma (disease) DOID DOID:0001816 one_to_one @@ -98807,7 +98992,7 @@ MONDO:0017039 drug or radiation exposure-related interstitial lung disease UMLS MONDO:0017040 exposure-related interstitial lung disease MONDO MONDO:0017034 subclass MONDO:0017040 exposure-related interstitial lung disease Orphanet Orphanet:264984 one_to_one MONDO:0017040 exposure-related interstitial lung disease UMLS UMLS:CN202351 one_to_one -MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO MONDO:0004589,MONDO:0019589,MONDO:0020240 subclass +MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome MONDO MONDO:0019589,MONDO:0020240 subclass MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome Orphanet Orphanet:2653 one_to_one MONDO:0017041 osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome SCTID SCTID:722108000 one_to_one MONDO:0017042 thanatophoric dysplasia DOID DOID:13481 one_to_one @@ -98836,7 +99021,7 @@ MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome Orp MONDO:0017044 adult familial nephronophthisis-spastic quadriparesia syndrome UMLS UMLS:CN202376 one_to_one MONDO:0017045 neuroectodermal-endocrine syndrome GARD GARD:0003959 one_to_one MONDO:0017045 neuroectodermal-endocrine syndrome ICD10 ICD10:E31.8 inexact -MONDO:0017045 neuroectodermal-endocrine syndrome MONDO MONDO:0015126,MONDO:0015159,MONDO:0015513,MONDO:0015983 subclass +MONDO:0017045 neuroectodermal-endocrine syndrome MONDO MONDO:0002320,MONDO:0015126,MONDO:0015159,MONDO:0015513,MONDO:0015983 subclass MONDO:0017045 neuroectodermal-endocrine syndrome Orphanet Orphanet:2676 one_to_one MONDO:0017045 neuroectodermal-endocrine syndrome UMLS UMLS:CN202391 one_to_one MONDO:0017046 neuroepithelioma GARD GARD:0003963 one_to_one @@ -98897,7 +99082,7 @@ MONDO:0017057 hereditary thrombocytopenia with normal platelets UMLS UMLS:CN2270 MONDO:0017058 autosomal recessive intermediate Charcot-Marie-tooth disease GARD GARD:0012452 one_to_one MONDO:0017058 autosomal recessive intermediate Charcot-Marie-tooth disease HP HP:0000007 has_modifier MONDO:0017058 autosomal recessive intermediate Charcot-Marie-tooth disease ICD10 ICD10:G60.0 inexact -MONDO:0017058 autosomal recessive intermediate Charcot-Marie-tooth disease MONDO MONDO:0006025,MONDO:0018778 subclass +MONDO:0017058 autosomal recessive intermediate Charcot-Marie-tooth disease MONDO MONDO:0002320,MONDO:0006025,MONDO:0018778 subclass MONDO:0017058 autosomal recessive intermediate Charcot-Marie-tooth disease Orphanet Orphanet:268337 one_to_one MONDO:0017058 autosomal recessive intermediate Charcot-Marie-tooth disease UMLS UMLS:CN202416 one_to_one MONDO:0017059 neural tube closure defect GO GO:0001843 disease_has_basis_in_disruption_of @@ -98965,7 +99150,7 @@ MONDO:0017077 myelocystocele SCTID SCTID:203994003 one_to_one MONDO:0017078 cephalocele (disease) HP HP:0011815 one_to_one MONDO:0017078 cephalocele (disease) ICD10 ICD10:Q01.0,ICD10:Q01.1,ICD10:Q01.2,ICD10:Q01.8,ICD10:Q01.9 inexact MONDO:0017078 cephalocele (disease) ICD9 ICD9:742.0 one_to_one -MONDO:0017078 cephalocele (disease) MONDO MONDO:0002320,MONDO:0017059 subclass +MONDO:0017078 cephalocele (disease) MONDO MONDO:0017059 subclass MONDO:0017078 cephalocele (disease) NCIT NCIT:C84687 one_to_one MONDO:0017078 cephalocele (disease) Orphanet Orphanet:268817 one_to_one MONDO:0017078 cephalocele (disease) SCTID SCTID:55999004 one_to_one @@ -99176,7 +99361,8 @@ MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome Orphanet Orphanet:2 MONDO:0017135 olivopontocerebellar atrophy-deafness syndrome UMLS UMLS:CN202542 one_to_one MONDO:0017136 omodysplasia DOID DOID:0060288 one_to_one MONDO:0017136 omodysplasia ICD10 ICD10:Q78.8 inexact -MONDO:0017136 omodysplasia MONDO MONDO:0005516,MONDO:0019697 subclass +MONDO:0017136 omodysplasia MONDO MONDO:0005516 excluded_subClassOf +MONDO:0017136 omodysplasia MONDO MONDO:0019697 subclass MONDO:0017136 omodysplasia Orphanet Orphanet:2733 one_to_one MONDO:0017136 omodysplasia UMLS UMLS:C4510897 one_to_one MONDO:0017137 onchocerciasis DOID DOID:11678 one_to_one @@ -99200,7 +99386,7 @@ MONDO:0017138 Opitz G/BBB syndrome ICD10 ICD10:Q87.8 inexact MONDO:0017138 Opitz G/BBB syndrome ICD9 ICD9:758.89 inexact MONDO:0017138 Opitz G/BBB syndrome KEGG KEGG:H00583 one_to_one MONDO:0017138 Opitz G/BBB syndrome MONDO MONDO:0020119 excluded_subClassOf -MONDO:0017138 Opitz G/BBB syndrome MONDO MONDO:0000275,MONDO:0008537,MONDO:0015159,MONDO:0015222,MONDO:0015246,MONDO:0015620,MONDO:0043005 subclass +MONDO:0017138 Opitz G/BBB syndrome MONDO MONDO:0000275,MONDO:0002320,MONDO:0008537,MONDO:0015159,MONDO:0015222,MONDO:0015246,MONDO:0015620,MONDO:0043005 subclass MONDO:0017138 Opitz G/BBB syndrome NCIT NCIT:C125487 one_to_one MONDO:0017138 Opitz G/BBB syndrome OMIMPS OMIMPS:300000 one_to_one MONDO:0017138 Opitz G/BBB syndrome Orphanet Orphanet:2745 one_to_one @@ -99494,7 +99680,7 @@ MONDO:0017195 Bruck syndrome UMLS UMLS:C0432253 one_to_one MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome GARD GARD:0000587 one_to_one MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome ICD10 ICD10:Q87.8 inexact MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MESH MESH:C535617 one_to_one -MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MONDO MONDO:0003608,MONDO:0004884,MONDO:0005283,MONDO:0005287,MONDO:0015918,MONDO:0019019,MONDO:0020004 subclass +MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0003608,MONDO:0004884,MONDO:0005283,MONDO:0005287,MONDO:0015918,MONDO:0019019,MONDO:0020004 subclass MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome Orphanet Orphanet:2773 one_to_one MONDO:0017196 osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome SCTID SCTID:722110003 one_to_one MONDO:0017197 osteopathia striata-pigmentary dermopathy-white forelock syndrome GARD GARD:0005562 one_to_one @@ -99767,14 +99953,17 @@ MONDO:0017258 idiopathic panuveitis ICD10 ICD10:H44.1 inexact MONDO:0017258 idiopathic panuveitis MONDO MONDO:0017255 subclass MONDO:0017258 idiopathic panuveitis Orphanet Orphanet:280921 one_to_one MONDO:0017259 systemic diseases with anterior uveitis MONDO MONDO:0006651 disease_has_feature +MONDO:0017259 systemic diseases with anterior uveitis MONDO MONDO:0006651 excluded_subClassOf MONDO:0017259 systemic diseases with anterior uveitis MONDO MONDO:0015938 subclass MONDO:0017259 systemic diseases with anterior uveitis Orphanet Orphanet:280926 one_to_one MONDO:0017259 systemic diseases with anterior uveitis UMLS UMLS:CN202777 one_to_one MONDO:0017260 systemic diseases with posterior uveitis MONDO MONDO:0001280 disease_has_feature +MONDO:0017260 systemic diseases with posterior uveitis MONDO MONDO:0001280 excluded_subClassOf MONDO:0017260 systemic diseases with posterior uveitis MONDO MONDO:0015938 subclass MONDO:0017260 systemic diseases with posterior uveitis Orphanet Orphanet:280930 one_to_one MONDO:0017260 systemic diseases with posterior uveitis UMLS UMLS:CN202778 one_to_one MONDO:0017261 systemic diseases with panuveitis MONDO MONDO:0006885 disease_has_feature +MONDO:0017261 systemic diseases with panuveitis MONDO MONDO:0017255 excluded_subClassOf MONDO:0017261 systemic diseases with panuveitis MONDO MONDO:0015938 subclass MONDO:0017261 systemic diseases with panuveitis Orphanet Orphanet:280933 one_to_one MONDO:0017261 systemic diseases with panuveitis UMLS UMLS:CN202779 one_to_one @@ -99786,12 +99975,13 @@ MONDO:0017263 inherited ichthyosis syndromic form MONDO MONDO:0002254,MONDO:0015 MONDO:0017263 inherited ichthyosis syndromic form Orphanet Orphanet:281085 one_to_one MONDO:0017264 syndromic recessive X-linked ichthyosis ICD10 ICD10:Q80.1 inexact MONDO:0017264 syndromic recessive X-linked ichthyosis MONDO MONDO:0021127 has_modifier -MONDO:0017264 syndromic recessive X-linked ichthyosis MONDO MONDO:0010622,MONDO:0015905,MONDO:0017269,MONDO:0020215,MONDO:0020279 subclass +MONDO:0017264 syndromic recessive X-linked ichthyosis MONDO MONDO:0002320,MONDO:0010622,MONDO:0015905,MONDO:0017269,MONDO:0020215,MONDO:0020279 subclass MONDO:0017264 syndromic recessive X-linked ichthyosis Orphanet Orphanet:281090 one_to_one MONDO:0017264 syndromic recessive X-linked ichthyosis SCTID SCTID:717041008 one_to_one MONDO:0017264 syndromic recessive X-linked ichthyosis UMLS UMLS:C4274085,UMLS:CN202782 inexact MONDO:0017265 autosomal recessive congenital ichthyosis DOID DOID:0060655 one_to_one MONDO:0017265 autosomal recessive congenital ichthyosis HP HP:0000007 has_modifier +MONDO:0017265 autosomal recessive congenital ichthyosis MONDO MONDO:0017262 excluded_subClassOf MONDO:0017265 autosomal recessive congenital ichthyosis MONDO MONDO:0006025,MONDO:0015947 subclass MONDO:0017265 autosomal recessive congenital ichthyosis OMIMPS OMIMPS:242300 one_to_one MONDO:0017265 autosomal recessive congenital ichthyosis Orphanet Orphanet:281097 one_to_one @@ -99861,7 +100051,7 @@ MONDO:0017279 young-onset Parkinson disease Orphanet Orphanet:2828 one_to_one MONDO:0017279 young-onset Parkinson disease SCTID SCTID:715345007 one_to_one MONDO:0017280 demodicidosis GARD GARD:0001802 one_to_one MONDO:0017280 demodicidosis ICD10 ICD10:B88.0 inexact -MONDO:0017280 demodicidosis MONDO MONDO:0000001,MONDO:0002051,MONDO:0015577,MONDO:0045027 subclass +MONDO:0017280 demodicidosis MONDO MONDO:0000001,MONDO:0002051,MONDO:0015577 subclass MONDO:0017280 demodicidosis NCBITaxon NCBITaxon:188544 realized_in_response_to_stimulus MONDO:0017280 demodicidosis Orphanet Orphanet:283 one_to_one MONDO:0017280 demodicidosis UBERON UBERON:0002199 disease_has_location @@ -99885,7 +100075,7 @@ MONDO:0017283 facial dysmorphism-developmental delay-behavioral abnormalities sy MONDO:0017283 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion Orphanet Orphanet:284169 one_to_one MONDO:0017283 facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion UMLS UMLS:CN202845 one_to_one MONDO:0017284 Xp22.13p22.2 duplication syndrome ICD10 ICD10:Q99.8 inexact -MONDO:0017284 Xp22.13p22.2 duplication syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0017009,MONDO:0043005 subclass +MONDO:0017284 Xp22.13p22.2 duplication syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0017009,MONDO:0043005 subclass MONDO:0017284 Xp22.13p22.2 duplication syndrome Orphanet Orphanet:284180 one_to_one MONDO:0017284 Xp22.13p22.2 duplication syndrome UMLS UMLS:CN202846 one_to_one MONDO:0017285 penoscrotal transposition (disease) GARD GARD:0004273 one_to_one @@ -100040,7 +100230,7 @@ MONDO:0017314 Ehlers-Danlos syndrome, vascular type SCTID SCTID:17025000 one_to_ MONDO:0017315 short stature-webbed neck-heart disease syndrome GARD GARD:0000583 one_to_one MONDO:0017315 short stature-webbed neck-heart disease syndrome ICD10 ICD10:Q87.8 inexact MONDO:0017315 short stature-webbed neck-heart disease syndrome MESH MESH:C535613 one_to_one -MONDO:0017315 short stature-webbed neck-heart disease syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0017315 short stature-webbed neck-heart disease syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0017315 short stature-webbed neck-heart disease syndrome Orphanet Orphanet:2865 one_to_one MONDO:0017315 short stature-webbed neck-heart disease syndrome SCTID SCTID:721073008 one_to_one MONDO:0017315 short stature-webbed neck-heart disease syndrome UMLS UMLS:C2930950 one_to_one @@ -100052,7 +100242,7 @@ MONDO:0017316 short stature-deafness-neutrophil dysfunction-dysmorphism syndrome MONDO:0017317 phakomatosis pigmentokeratotica GARD GARD:0004311 one_to_one MONDO:0017317 phakomatosis pigmentokeratotica ICD10 ICD10:Q85.8 inexact MONDO:0017317 phakomatosis pigmentokeratotica MESH MESH:C537893 one_to_one -MONDO:0017317 phakomatosis pigmentokeratotica MONDO MONDO:0000648,MONDO:0017414,MONDO:0019117,MONDO:0020036,MONDO:0020063,MONDO:0042983 subclass +MONDO:0017317 phakomatosis pigmentokeratotica MONDO MONDO:0000648,MONDO:0002320,MONDO:0017414,MONDO:0019117,MONDO:0020036,MONDO:0020063,MONDO:0042983 subclass MONDO:0017317 phakomatosis pigmentokeratotica Orphanet Orphanet:2874 one_to_one MONDO:0017317 phakomatosis pigmentokeratotica UMLS UMLS:C2931658 one_to_one MONDO:0017318 phakomatosis pigmentovascularis GARD GARD:0004312 one_to_one @@ -100271,7 +100461,7 @@ MONDO:0017361 congenital rubella syndrome GARD GARD:0004744 one_to_one MONDO:0017361 congenital rubella syndrome ICD10 ICD10:P35.0 one_to_one MONDO:0017361 congenital rubella syndrome ICD9 ICD9:771.0 one_to_one MONDO:0017361 congenital rubella syndrome MESH MESH:D012410 one_to_one -MONDO:0017361 congenital rubella syndrome MONDO MONDO:0015659,MONDO:0016511 subclass +MONDO:0017361 congenital rubella syndrome MONDO MONDO:0002320,MONDO:0015659,MONDO:0016511 subclass MONDO:0017361 congenital rubella syndrome MedDRA MedDRA:10010618 one_to_one MONDO:0017361 congenital rubella syndrome Orphanet Orphanet:290 one_to_one MONDO:0017361 congenital rubella syndrome SCTID SCTID:1857005 one_to_one @@ -100306,6 +100496,7 @@ MONDO:0017366 hereditary pheochromocytoma-paraganglioma MONDO MONDO:0015971,MOND MONDO:0017366 hereditary pheochromocytoma-paraganglioma Orphanet Orphanet:29072 one_to_one MONDO:0017366 hereditary pheochromocytoma-paraganglioma UMLS UMLS:C1708353 one_to_one MONDO:0017368 systemic disease with skin involvement MONDO MONDO:0005093 disease_has_feature +MONDO:0017368 systemic disease with skin involvement MONDO MONDO:0019519 excluded_subClassOf MONDO:0017368 systemic disease with skin involvement MONDO MONDO:0015938 subclass MONDO:0017368 systemic disease with skin involvement Orphanet Orphanet:290836 one_to_one MONDO:0017368 systemic disease with skin involvement UMLS UMLS:CN203041 one_to_one @@ -100345,7 +100536,7 @@ MONDO:0017373 poliomyelitis SCTID SCTID:398102009 one_to_one MONDO:0017373 poliomyelitis UMLS UMLS:C0032371 one_to_one MONDO:0017375 congenital enterovirus infection ICD10 ICD10:P35.8 inexact MONDO:0017375 congenital enterovirus infection MONDO MONDO:0021140 has_modifier -MONDO:0017375 congenital enterovirus infection MONDO MONDO:0005747,MONDO:0023143 subclass +MONDO:0017375 congenital enterovirus infection MONDO MONDO:0005747,MONDO:0015576,MONDO:0016511 subclass MONDO:0017375 congenital enterovirus infection Orphanet Orphanet:292 one_to_one MONDO:0017375 congenital enterovirus infection SCTID SCTID:716865000 one_to_one MONDO:0017375 congenital enterovirus infection UMLS UMLS:C4274223 one_to_one @@ -100365,7 +100556,7 @@ MONDO:0017376 reactive arthritis UMLS UMLS:C0035012,UMLS:C0085435,UMLS:CN203069 MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome GARD GARD:0004304 one_to_one MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome ICD10 ICD10:Q87.2 inexact MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome MESH MESH:C537888 one_to_one -MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome Orphanet Orphanet:2921 one_to_one MONDO:0017377 preaxial polydactyly-colobomata-intellectual disability syndrome UMLS UMLS:C2931655 one_to_one MONDO:0017378 polymicrogyria-turricephaly-hypogenitalism syndrome ICD10 ICD10:Q87.8 inexact @@ -100452,7 +100643,7 @@ MONDO:0017392 pre-Descemet corneal dystrophy MONDO MONDO:0020213 subclass MONDO:0017392 pre-Descemet corneal dystrophy Orphanet Orphanet:293462 one_to_one MONDO:0017392 pre-Descemet corneal dystrophy SCTID SCTID:231934009 one_to_one MONDO:0017393 blepharophimosis-intellectual disability syndrome GARD GARD:0010892 one_to_one -MONDO:0017393 blepharophimosis-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0017393 blepharophimosis-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0017393 blepharophimosis-intellectual disability syndrome Orphanet Orphanet:293642 one_to_one MONDO:0017393 blepharophimosis-intellectual disability syndrome UMLS UMLS:CN203134 one_to_one MONDO:0017394 ketamine-induced biliary dilatation CHEBI CHEBI:6121 realized_in_response_to_stimulus @@ -100471,7 +100662,7 @@ MONDO:0017397 constitutional dyserythropoietic anemia Orphanet Orphanet:293830 o MONDO:0017398 3MC syndrome DOID DOID:0060225 one_to_one MONDO:0017398 3MC syndrome GARD GARD:0001118 one_to_one MONDO:0017398 3MC syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0017398 3MC syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0017398 3MC syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0017398 3MC syndrome OMIMPS OMIMPS:257920 one_to_one MONDO:0017398 3MC syndrome Orphanet Orphanet:293843 one_to_one MONDO:0017398 3MC syndrome SCTID SCTID:720756005 one_to_one @@ -100496,11 +100687,11 @@ MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right domi MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form Orphanet Orphanet:293910 one_to_one MONDO:0017403 familial isolated arrhythmogenic ventricular dysplasia, right dominant form UMLS UMLS:CN203147 one_to_one MONDO:0017404 distal Xq28 microduplication syndrome ICD10 ICD10:Q99.8 inexact -MONDO:0017404 distal Xq28 microduplication syndrome MONDO MONDO:0015983,MONDO:0017010 subclass +MONDO:0017404 distal Xq28 microduplication syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0017010 subclass MONDO:0017404 distal Xq28 microduplication syndrome Orphanet Orphanet:293939 one_to_one MONDO:0017404 distal Xq28 microduplication syndrome UMLS UMLS:CN203151 one_to_one MONDO:0017405 1p21.3 microdeletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0017405 1p21.3 microdeletion syndrome MONDO MONDO:0015878,MONDO:0015983,MONDO:0016883 subclass +MONDO:0017405 1p21.3 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015878,MONDO:0015983,MONDO:0016883 subclass MONDO:0017405 1p21.3 microdeletion syndrome Orphanet Orphanet:293948 one_to_one MONDO:0017405 1p21.3 microdeletion syndrome SCTID SCTID:719600006 one_to_one MONDO:0017405 1p21.3 microdeletion syndrome UMLS UMLS:C4304578,UMLS:CN203152 inexact @@ -100516,7 +100707,7 @@ MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventila MONDO:0017408 rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome UMLS UMLS:C4053506,UMLS:CN203158 inexact MONDO:0017409 fetal cytomegalovirus syndrome GARD GARD:0001409,GARD:0001480 inexact MONDO:0017409 fetal cytomegalovirus syndrome ICD10 ICD10:P35.1 one_to_one -MONDO:0017409 fetal cytomegalovirus syndrome MONDO MONDO:0002254,MONDO:0005132,MONDO:0015659,MONDO:0024318,MONDO:0042971 subclass +MONDO:0017409 fetal cytomegalovirus syndrome MONDO MONDO:0002254,MONDO:0002320,MONDO:0005132,MONDO:0015659,MONDO:0024318,MONDO:0042971 subclass MONDO:0017409 fetal cytomegalovirus syndrome NCIT NCIT:C122427 one_to_one MONDO:0017409 fetal cytomegalovirus syndrome Orphanet Orphanet:294 one_to_one MONDO:0017409 fetal cytomegalovirus syndrome SCTID SCTID:276701009 one_to_one @@ -100568,7 +100759,7 @@ MONDO:0017416 postpoliomyelitis syndrome Orphanet Orphanet:2942 one_to_one MONDO:0017416 postpoliomyelitis syndrome SCTID SCTID:31097004 one_to_one MONDO:0017416 postpoliomyelitis syndrome UMLS UMLS:C0080040 one_to_one MONDO:0017417 renal-hepatic-pancreatic dysplasia DOID DOID:0060259 one_to_one -MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO MONDO:0000839,MONDO:0015214,MONDO:0019741 subclass +MONDO:0017417 renal-hepatic-pancreatic dysplasia MONDO MONDO:0015214,MONDO:0019741 subclass MONDO:0017417 renal-hepatic-pancreatic dysplasia OMIMPS OMIMPS:208540 one_to_one MONDO:0017417 renal-hepatic-pancreatic dysplasia Orphanet Orphanet:294415 one_to_one MONDO:0017417 renal-hepatic-pancreatic dysplasia UMLS UMLS:C2673883 one_to_one @@ -101201,7 +101392,7 @@ MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome OMIMPS OMIMPS:243310 MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome Orphanet Orphanet:2995 one_to_one MONDO:0017579 Baraitser-Winter cerebrofrontofacial syndrome SCTID SCTID:702410002 one_to_one MONDO:0017580 11p15.4 microduplication syndrome ICD10 ICD10:Q92.3 inexact -MONDO:0017580 11p15.4 microduplication syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016948,MONDO:0019717,MONDO:0043005 subclass +MONDO:0017580 11p15.4 microduplication syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016948,MONDO:0019717,MONDO:0043005 subclass MONDO:0017580 11p15.4 microduplication syndrome Orphanet Orphanet:300305 one_to_one MONDO:0017580 11p15.4 microduplication syndrome UMLS UMLS:CN203376 one_to_one MONDO:0017581 familial infantile gigantism ICD10 ICD10:E22.0 inexact @@ -101588,7 +101779,7 @@ MONDO:0017667 isolated diffuse palmoplantar keratoderma MONDO MONDO:0017666 subc MONDO:0017667 isolated diffuse palmoplantar keratoderma Orphanet Orphanet:307148 one_to_one MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome GARD GARD:0003514 one_to_one MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome Orphanet Orphanet:3074 one_to_one MONDO:0017668 intellectual disability-short stature-hypertelorism syndrome UMLS UMLS:CN203552 one_to_one MONDO:0017669 disease with diffuse palmoplantar keratoderma as a major feature HP HP:0007435 disease_has_major_feature @@ -101650,7 +101841,7 @@ MONDO:0017681 erythrokeratoderma variabilis progressiva Orphanet Orphanet:308166 MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome GARD GARD:0003141 one_to_one MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome ICD10 ICD10:Q87.2 inexact MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome MESH MESH:C537615 one_to_one -MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome Orphanet Orphanet:3082 one_to_one MONDO:0017682 intellectual disability-polydactyly-uncombable hair syndrome UMLS UMLS:C2931547 one_to_one MONDO:0017683 methylcobalamin deficiency type cblDv1 ICD10 ICD10:E72.1 inexact @@ -101700,8 +101891,9 @@ MONDO:0017692 generalized galactose epimerase deficiency MONDO MONDO:0009257 sub MONDO:0017692 generalized galactose epimerase deficiency Orphanet Orphanet:308487 one_to_one MONDO:0017692 generalized galactose epimerase deficiency SCTID SCTID:297237003 one_to_one MONDO:0017692 generalized galactose epimerase deficiency UMLS UMLS:C0574089 one_to_one +MONDO:0017693 glycogen storage disease due to glycogen synthase deficiency GO GO:0061547 disease_has_basis_in_disruption_of MONDO:0017693 glycogen storage disease due to glycogen synthase deficiency ICD10 ICD10:E74.0 inexact -MONDO:0017693 glycogen storage disease due to glycogen synthase deficiency MONDO MONDO:0002412 subclass +MONDO:0017693 glycogen storage disease due to glycogen synthase deficiency MONDO MONDO:0002412,MONDO:0044976 subclass MONDO:0017693 glycogen storage disease due to glycogen synthase deficiency Orphanet Orphanet:308520 one_to_one MONDO:0017693 glycogen storage disease due to glycogen synthase deficiency UMLS UMLS:CN203589 one_to_one MONDO:0017694 glycogen storage disease due to acid maltase deficiency, infantile onset ICD10 ICD10:E74.0 inexact @@ -102084,7 +102276,7 @@ MONDO:0017776 nocardiosis Orphanet Orphanet:31204 one_to_one MONDO:0017776 nocardiosis SCTID SCTID:29227009 one_to_one MONDO:0017778 lamellar ichthyosis ICD10 ICD10:Q80.2 inexact MONDO:0017778 lamellar ichthyosis MESH MESH:D017490 one_to_one -MONDO:0017778 lamellar ichthyosis MONDO MONDO:0015947,MONDO:0020162,MONDO:0020268 subclass +MONDO:0017778 lamellar ichthyosis MONDO MONDO:0002320,MONDO:0015947,MONDO:0020162,MONDO:0020268 subclass MONDO:0017778 lamellar ichthyosis MedDRA MedDRA:10023686 one_to_one MONDO:0017778 lamellar ichthyosis NCIT NCIT:C84805 one_to_one MONDO:0017778 lamellar ichthyosis Orphanet Orphanet:313 one_to_one @@ -102095,14 +102287,14 @@ MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency MONDO MONDO:0000001,MON MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency Orphanet Orphanet:3137 one_to_one MONDO:0017779 alpha-N-acetylgalactosaminidase deficiency SCTID SCTID:238048001 one_to_one MONDO:0017780 20p13 microdeletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0017780 20p13 microdeletion syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016898,MONDO:0043005 subclass +MONDO:0017780 20p13 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016898,MONDO:0043005 subclass MONDO:0017780 20p13 microdeletion syndrome Orphanet Orphanet:313781 one_to_one MONDO:0017780 20p13 microdeletion syndrome UMLS UMLS:CN203720 one_to_one MONDO:0017781 12p12.1 microdeletion syndrome ICD10 ICD10:Q93.5 inexact MONDO:0017781 12p12.1 microdeletion syndrome MONDO MONDO:0014778,MONDO:0017848 subclass MONDO:0017781 12p12.1 microdeletion syndrome Orphanet Orphanet:313884 one_to_one MONDO:0017781 12p12.1 microdeletion syndrome UMLS UMLS:CN203731 one_to_one -MONDO:0017782 developmental and speech delay due to SOX5 deficiency MONDO MONDO:0014778,MONDO:0015983 subclass +MONDO:0017782 developmental and speech delay due to SOX5 deficiency MONDO MONDO:0002320,MONDO:0014778,MONDO:0015983 subclass MONDO:0017782 developmental and speech delay due to SOX5 deficiency Orphanet Orphanet:313892 one_to_one MONDO:0017783 congenital pancreatic cyst ICD10 ICD10:Q45.2 one_to_one MONDO:0017783 congenital pancreatic cyst MONDO MONDO:0015112 subclass @@ -102116,7 +102308,7 @@ MONDO:0017785 PENS syndrome MONDO MONDO:0017414 subclass MONDO:0017785 PENS syndrome Orphanet Orphanet:313936 one_to_one MONDO:0017785 PENS syndrome UMLS UMLS:CN203735 one_to_one MONDO:0017786 2q23.1 microduplication syndrome ICD10 ICD10:Q92.3 inexact -MONDO:0017786 2q23.1 microduplication syndrome MONDO MONDO:0015983,MONDO:0016953 subclass +MONDO:0017786 2q23.1 microduplication syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0016953 subclass MONDO:0017786 2q23.1 microduplication syndrome Orphanet Orphanet:313947 one_to_one MONDO:0017786 2q23.1 microduplication syndrome UMLS UMLS:CN203736 one_to_one MONDO:0017787 erythroderma desquamativum GARD GARD:0002191 one_to_one @@ -102139,14 +102331,14 @@ MONDO:0017791 high bone mass osteogenesis imperfecta MONDO MONDO:0019703 subclas MONDO:0017791 high bone mass osteogenesis imperfecta Orphanet Orphanet:314029 one_to_one MONDO:0017791 high bone mass osteogenesis imperfecta UMLS UMLS:CN203741 one_to_one MONDO:0017792 7p22.1 microduplication syndrome ICD10 ICD10:Q92.3 inexact -MONDO:0017792 7p22.1 microduplication syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016944,MONDO:0043005 subclass +MONDO:0017792 7p22.1 microduplication syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016944,MONDO:0043005 subclass MONDO:0017792 7p22.1 microduplication syndrome Orphanet Orphanet:314034 one_to_one MONDO:0017792 7p22.1 microduplication syndrome UMLS UMLS:CN203742 one_to_one MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome MONDO MONDO:0015332 subclass MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome Orphanet Orphanet:314041 one_to_one MONDO:0017793 marfanoid habitus-inguinal hernia-advanced bone age syndrome UMLS UMLS:CN203743 one_to_one MONDO:0017794 Xq12-q13.3 duplication syndrome ICD10 ICD10:Q99.8 inexact -MONDO:0017794 Xq12-q13.3 duplication syndrome MONDO MONDO:0015878,MONDO:0017010 subclass +MONDO:0017794 Xq12-q13.3 duplication syndrome MONDO MONDO:0002320,MONDO:0015878,MONDO:0017010 subclass MONDO:0017794 Xq12-q13.3 duplication syndrome Orphanet Orphanet:314389 one_to_one MONDO:0017794 Xq12-q13.3 duplication syndrome UMLS UMLS:CN203749 one_to_one MONDO:0017795 ameloblastoma CL CL:0000059 disease_arises_from_structure @@ -102197,7 +102389,7 @@ MONDO:0017803 primary progressive apraxia of speech UMLS UMLS:CN203766 one_to_on MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome MONDO MONDO:0018787,MONDO:0020240 subclass MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome Orphanet Orphanet:314572 one_to_one MONDO:0017804 autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome UMLS UMLS:CN203767 one_to_one -MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome MONDO MONDO:0001560,MONDO:0015159,MONDO:0015616,MONDO:0015983 subclass +MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome MONDO MONDO:0001560,MONDO:0002320,MONDO:0015159,MONDO:0015616,MONDO:0015983 subclass MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome Orphanet Orphanet:314575 one_to_one MONDO:0017805 intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome UMLS UMLS:CN203768 one_to_one MONDO:0017806 15q overgrowth syndrome ICD10 ICD10:Q87.3 inexact @@ -102231,7 +102423,7 @@ MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperp MONDO:0017812 segmental progressive overgrowth syndrome with fibroadipose hyperplasia UMLS UMLS:CN203781 one_to_one MONDO:0017813 van Maldergem syndrome DOID DOID:0060238 one_to_one MONDO:0017813 van Maldergem syndrome GARD GARD:0005456 one_to_one -MONDO:0017813 van Maldergem syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0017813 van Maldergem syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0017813 van Maldergem syndrome OMIMPS OMIMPS:601390 one_to_one MONDO:0017813 van Maldergem syndrome Orphanet Orphanet:314679 one_to_one MONDO:0017813 van Maldergem syndrome UMLS UMLS:CN203783 one_to_one @@ -102273,10 +102465,10 @@ MONDO:0017822 mixed functioning pituitary adenoma MONDO MONDO:0003429 subclass MONDO:0017822 mixed functioning pituitary adenoma Orphanet Orphanet:314759 one_to_one MONDO:0017822 mixed functioning pituitary adenoma SCTID SCTID:254961003 one_to_one MONDO:0017822 mixed functioning pituitary adenoma UMLS UMLS:C0346305 one_to_one -MONDO:0017823 Somatomammotropinoma ICD10 ICD10:D35.2 inexact -MONDO:0017823 Somatomammotropinoma MONDO MONDO:0017822 subclass -MONDO:0017823 Somatomammotropinoma Orphanet Orphanet:314769 one_to_one -MONDO:0017823 Somatomammotropinoma UMLS UMLS:CN203793 one_to_one +MONDO:0017823 somatomammotropinoma ICD10 ICD10:D35.2 inexact +MONDO:0017823 somatomammotropinoma MONDO MONDO:0017822 subclass +MONDO:0017823 somatomammotropinoma Orphanet Orphanet:314769 one_to_one +MONDO:0017823 somatomammotropinoma UMLS UMLS:CN203793 one_to_one MONDO:0017824 familial isolated pituitary adenoma ICD10 ICD10:D35.2 inexact MONDO:0017824 familial isolated pituitary adenoma MONDO MONDO:0007052 subclass MONDO:0017824 familial isolated pituitary adenoma Orphanet Orphanet:314777 one_to_one @@ -102526,14 +102718,14 @@ MONDO:0017866 subpulmonary stenosis Orphanet Orphanet:3190 one_to_one MONDO:0017866 subpulmonary stenosis SCTID SCTID:448476001 one_to_one MONDO:0017866 subpulmonary stenosis UMLS UMLS:C3165028 one_to_one MONDO:0017867 distal 17p13.1 microdeletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0017867 distal 17p13.1 microdeletion syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016895,MONDO:0043005 subclass +MONDO:0017867 distal 17p13.1 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016895,MONDO:0043005 subclass MONDO:0017867 distal 17p13.1 microdeletion syndrome Orphanet Orphanet:319171 one_to_one MONDO:0017867 distal 17p13.1 microdeletion syndrome UMLS UMLS:CN203914 one_to_one MONDO:0017868 diencephalic-mesencephalic junction dysplasia ICD10 ICD10:Q04.8 inexact MONDO:0017868 diencephalic-mesencephalic junction dysplasia MONDO MONDO:0015960,MONDO:0016054,MONDO:0019117 subclass MONDO:0017868 diencephalic-mesencephalic junction dysplasia Orphanet Orphanet:319192 one_to_one MONDO:0017869 chondroectodermal dysplasia with night blindness ICD10 ICD10:Q77.6 inexact -MONDO:0017869 chondroectodermal dysplasia with night blindness MONDO MONDO:0015107,MONDO:0015958,MONDO:0019287,MONDO:0019704 subclass +MONDO:0017869 chondroectodermal dysplasia with night blindness MONDO MONDO:0002320,MONDO:0015107,MONDO:0015958,MONDO:0019287,MONDO:0019704 subclass MONDO:0017869 chondroectodermal dysplasia with night blindness Orphanet Orphanet:319195 one_to_one MONDO:0017870 supravalvular pulmonary stenosis GARD GARD:0004594 one_to_one MONDO:0017870 supravalvular pulmonary stenosis ICD10 ICD10:Q25.6 inexact @@ -102684,7 +102876,7 @@ MONDO:0017891 inherited renal cancer-predisposing syndrome MONDO MONDO:0015356,M MONDO:0017891 inherited renal cancer-predisposing syndrome Orphanet Orphanet:319328 one_to_one MONDO:0017891 inherited renal cancer-predisposing syndrome UMLS UMLS:CN203941 one_to_one MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita ICD10 ICD10:Q74.3 inexact -MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita MONDO MONDO:0015168,MONDO:0019950 subclass +MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita MONDO MONDO:0002320,MONDO:0015168,MONDO:0019950 subclass MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita Orphanet Orphanet:319332 one_to_one MONDO:0017892 autosomal recessive myogenic arthrogryposis multiplex congenita UMLS UMLS:CN203942 one_to_one MONDO:0017893 inherited acute myeloid leukemia ICD10 ICD10:C92.0 inexact @@ -102799,7 +102991,7 @@ MONDO:0017919 bladder exstrophy-epispadias-cloacal exstrophy complex DOID DOID:0 MONDO:0017919 bladder exstrophy-epispadias-cloacal exstrophy complex GARD GARD:0002207 one_to_one MONDO:0017919 bladder exstrophy-epispadias-cloacal exstrophy complex ICD10 ICD10:Q64.1 inexact MONDO:0017919 bladder exstrophy-epispadias-cloacal exstrophy complex MONDO MONDO:0015215,MONDO:0015934,MONDO:0019720 excluded_subClassOf -MONDO:0017919 bladder exstrophy-epispadias-cloacal exstrophy complex MONDO MONDO:0000839,MONDO:0015511,MONDO:0015960,MONDO:0019356,MONDO:0019719,MONDO:0020021,MONDO:0020030 subclass +MONDO:0017919 bladder exstrophy-epispadias-cloacal exstrophy complex MONDO MONDO:0015511,MONDO:0015960,MONDO:0019356,MONDO:0019719,MONDO:0020021,MONDO:0020030 subclass MONDO:0017919 bladder exstrophy-epispadias-cloacal exstrophy complex Orphanet Orphanet:322 one_to_one MONDO:0017919 bladder exstrophy-epispadias-cloacal exstrophy complex UMLS UMLS:C1838703 one_to_one MONDO:0017920 deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome GARD GARD:0004303 one_to_one @@ -102838,7 +103030,7 @@ MONDO:0017927 severe lateral tibial bowing with short stature MONDO MONDO:001969 MONDO:0017927 severe lateral tibial bowing with short stature Orphanet Orphanet:324307 one_to_one MONDO:0017927 severe lateral tibial bowing with short stature UMLS UMLS:CN204066 one_to_one MONDO:0017928 9p13 microdeletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0017928 9p13 microdeletion syndrome MONDO MONDO:0015983,MONDO:0016891 subclass +MONDO:0017928 9p13 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0016891 subclass MONDO:0017928 9p13 microdeletion syndrome Orphanet Orphanet:324313 one_to_one MONDO:0017928 9p13 microdeletion syndrome UMLS UMLS:CN204067 one_to_one MONDO:0017929 congenital achiasma ICD10 ICD10:H47.4 inexact @@ -102859,7 +103051,7 @@ MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitoc MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation Orphanet Orphanet:324525 one_to_one MONDO:0017933 hypertrophic cardiomyopathy and renal tubular disease due to mitochondrial DNA mutation UMLS UMLS:CN204073 one_to_one MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome ICD10 ICD10:Q87.0 inexact -MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome Orphanet Orphanet:324540 one_to_one MONDO:0017934 aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome UMLS UMLS:CN204076 one_to_one MONDO:0017935 hyperinsulinism due to HNF1A deficiency ICD10 ICD10:E16.1 inexact @@ -103061,7 +103253,7 @@ MONDO:0017985 congenital radioulnar synostosis HP HP:0002974 one_to_one MONDO:0017985 congenital radioulnar synostosis ICD10 ICD10:Q74.0 inexact MONDO:0017985 congenital radioulnar synostosis ICD9 ICD9:755.53 one_to_one MONDO:0017985 congenital radioulnar synostosis MESH MESH:C562408 one_to_one -MONDO:0017985 congenital radioulnar synostosis MONDO MONDO:0000839,MONDO:0017429 subclass +MONDO:0017985 congenital radioulnar synostosis MONDO MONDO:0017429 subclass MONDO:0017985 congenital radioulnar synostosis OMIM OMIM:179300 one_to_one MONDO:0017985 congenital radioulnar synostosis Orphanet Orphanet:3269 one_to_one MONDO:0017985 congenital radioulnar synostosis SCTID SCTID:33313004 one_to_one @@ -103129,7 +103321,7 @@ MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency MONDO MONDO:0020075 subclass MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency Orphanet Orphanet:329249 one_to_one MONDO:0017994 severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency UMLS UMLS:CN204200 one_to_one -MONDO:0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019711,MONDO:0043005 subclass +MONDO:0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019711,MONDO:0043005 subclass MONDO:0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome Orphanet Orphanet:329252 one_to_one MONDO:0017995 spondylocostal dysostosis-hypospadias-intellectual disability syndrome UMLS UMLS:CN204201 one_to_one MONDO:0017996 blepharophimosis-intellectual disability syndrome due to UBE3B deficiency MONDO MONDO:0017393 subclass @@ -103145,7 +103337,7 @@ MONDO:0017998 PLA2G6-associated neurodegeneration MONDO MONDO:0018307 subclass MONDO:0017998 PLA2G6-associated neurodegeneration Orphanet Orphanet:329303 one_to_one MONDO:0017998 PLA2G6-associated neurodegeneration http http://identifiers.org/hgnc/9039 disease_has_basis_in_dysfunction_of MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration ICD10 ICD10:G23.0 inexact -MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO MONDO:0004884,MONDO:0015089,MONDO:0015905,MONDO:0018118,MONDO:0018307,MONDO:0018609 subclass +MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration MONDO MONDO:0001835,MONDO:0004884,MONDO:0015089,MONDO:0015905,MONDO:0018118,MONDO:0018307,MONDO:0018609 subclass MONDO:0017999 fatty acid hydroxylase-associated neurodegeneration Orphanet Orphanet:329308 one_to_one MONDO:0018000 hereditary thrombocytosis with transverse limb defect ICD10 ICD10:Q87.2 inexact MONDO:0018000 hereditary thrombocytosis with transverse limb defect MONDO MONDO:0016636,MONDO:0017432,MONDO:0018455,MONDO:0021181 subclass @@ -103476,7 +103668,7 @@ MONDO:0018064 trigonocephaly-broad thumbs syndrome Orphanet Orphanet:3365 one_to MONDO:0018064 trigonocephaly-broad thumbs syndrome SCTID SCTID:719949001 one_to_one MONDO:0018065 isolated trigonocephaly ICD10 ICD10:Q75.0 inexact MONDO:0018065 isolated trigonocephaly MONDO MONDO:0021128 has_modifier -MONDO:0018065 isolated trigonocephaly MONDO MONDO:0000156,MONDO:0015337,MONDO:0020254 subclass +MONDO:0018065 isolated trigonocephaly MONDO MONDO:0000156,MONDO:0002320,MONDO:0015337,MONDO:0020254 subclass MONDO:0018065 isolated trigonocephaly Orphanet Orphanet:3366 one_to_one MONDO:0018065 isolated trigonocephaly UMLS UMLS:CN239481 one_to_one MONDO:0018066 trisomy X GARD GARD:0005672 one_to_one @@ -103536,7 +103728,7 @@ MONDO:0018075 neural tube defect DOID DOID:0080074 one_to_one MONDO:0018075 neural tube defect ICD9 ICD9:742.8 inexact MONDO:0018075 neural tube defect MESH MESH:D009436 one_to_one MONDO:0018075 neural tube defect MONDO MONDO:0015219 excluded_subClassOf -MONDO:0018075 neural tube defect MONDO MONDO:0000839,MONDO:0015960,MONDO:0019117,MONDO:0020022 subclass +MONDO:0018075 neural tube defect MONDO MONDO:0015960,MONDO:0019117,MONDO:0020022 subclass MONDO:0018075 neural tube defect NCIT NCIT:C84923 one_to_one MONDO:0018075 neural tube defect Orphanet Orphanet:3388 one_to_one MONDO:0018075 neural tube defect SCTID SCTID:253098009 one_to_one @@ -103658,7 +103850,7 @@ MONDO:0018090 double outlet left ventricle (disease) SCTID SCTID:7368005 one_to_ MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome GARD GARD:0005490 one_to_one MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome ICD10 ICD10:Q87.8 inexact MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MESH MESH:C536349 one_to_one -MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019066,MONDO:0043005 subclass +MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019066,MONDO:0043005 subclass MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome Orphanet Orphanet:3433 one_to_one MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome SCTID SCTID:719378009 one_to_one MONDO:0018091 microcephaly-brachydactyly-kyphoscoliosis syndrome UMLS UMLS:C2931177 one_to_one @@ -103689,7 +103881,7 @@ MONDO:0018094 Waardenburg syndrome OMIMPS OMIMPS:193500 one_to_one MONDO:0018094 Waardenburg syndrome Orphanet Orphanet:3440 one_to_one MONDO:0018094 Waardenburg syndrome SCTID SCTID:715952000 one_to_one MONDO:0018095 Weaver-Williams syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0018095 Weaver-Williams syndrome MONDO MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass +MONDO:0018095 Weaver-Williams syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015335,MONDO:0015983 subclass MONDO:0018095 Weaver-Williams syndrome Orphanet Orphanet:3448 one_to_one MONDO:0018096 Weill-Marchesani syndrome DOID DOID:0050475 one_to_one MONDO:0018096 Weill-Marchesani syndrome GARD GARD:0004936 one_to_one @@ -103788,13 +103980,13 @@ MONDO:0018111 idiopathic severe pneumococcemia ICD10 ICD10:A40.3 one_to_one MONDO:0018111 idiopathic severe pneumococcemia MONDO MONDO:0015575 subclass MONDO:0018111 idiopathic severe pneumococcemia Orphanet Orphanet:35065 one_to_one MONDO:0018112 isolated scaphocephaly ICD10 ICD10:Q75.0 inexact -MONDO:0018112 isolated scaphocephaly MONDO MONDO:0015337,MONDO:0020254 subclass +MONDO:0018112 isolated scaphocephaly MONDO MONDO:0002320,MONDO:0015337,MONDO:0020254 subclass MONDO:0018112 isolated scaphocephaly Orphanet Orphanet:35093 one_to_one MONDO:0018113 isolated plagiocephaly ICD10 ICD10:Q67.3 one_to_one -MONDO:0018113 isolated plagiocephaly MONDO MONDO:0015337,MONDO:0020254 subclass +MONDO:0018113 isolated plagiocephaly MONDO MONDO:0002320,MONDO:0015337,MONDO:0020254 subclass MONDO:0018113 isolated plagiocephaly Orphanet Orphanet:35098 one_to_one MONDO:0018114 isolated brachycephaly ICD10 ICD10:Q75.0 inexact -MONDO:0018114 isolated brachycephaly MONDO MONDO:0015337,MONDO:0020254 subclass +MONDO:0018114 isolated brachycephaly MONDO MONDO:0002320,MONDO:0015337,MONDO:0020254 subclass MONDO:0018114 isolated brachycephaly Orphanet Orphanet:35099 one_to_one MONDO:0018115 epidermal nevus syndrome ICD10 ICD10:Q85.8 inexact MONDO:0018115 epidermal nevus syndrome MONDO MONDO:0015966,MONDO:0017414,MONDO:0020269,MONDO:0021454 subclass @@ -103807,7 +103999,7 @@ MONDO:0018116 galactosemia GARD GARD:0002424 one_to_one MONDO:0018116 galactosemia ICD10 ICD10:E74.2,ICD10:E74.21 inexact MONDO:0018116 galactosemia ICD9 ICD9:271.1 one_to_one MONDO:0018116 galactosemia MESH MESH:D005693 one_to_one -MONDO:0018116 galactosemia MONDO MONDO:0017133,MONDO:0017690,MONDO:0019743,MONDO:0020228,MONDO:0020280 subclass +MONDO:0018116 galactosemia MONDO MONDO:0002320,MONDO:0017133,MONDO:0017690,MONDO:0019743,MONDO:0020228,MONDO:0020280 subclass MONDO:0018116 galactosemia MedDRA MedDRA:10017604 one_to_one MONDO:0018116 galactosemia NCIT NCIT:C84723 one_to_one MONDO:0018116 galactosemia Orphanet Orphanet:352 one_to_one @@ -103834,7 +104026,7 @@ MONDO:0018122 digital anomalies-intellectual disability-short stature syndrome M MONDO:0018122 digital anomalies-intellectual disability-short stature syndrome Orphanet Orphanet:352487 one_to_one MONDO:0018122 digital anomalies-intellectual disability-short stature syndrome UMLS UMLS:CN204494 one_to_one MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome ICD10 ICD10:Q04.8 inexact -MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome MONDO MONDO:0015983,MONDO:0016565 subclass +MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0016565 subclass MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome Orphanet Orphanet:352530 one_to_one MONDO:0018123 intellectual disability-obesity-brain malformations-facial dysmorphism syndrome UMLS UMLS:CN204496 one_to_one MONDO:0018124 Oncogenic osteomalacia GARD GARD:0009652 one_to_one @@ -103944,7 +104136,7 @@ MONDO:0018149 GM1 gangliosidosis GO GO:0004565 disease_has_basis_in_disruption_o MONDO:0018149 GM1 gangliosidosis ICD10 ICD10:E75.1,ICD10:E75.19 inexact MONDO:0018149 GM1 gangliosidosis ICD9 ICD9:277.6 inexact MONDO:0018149 GM1 gangliosidosis MESH MESH:D016537 one_to_one -MONDO:0018149 GM1 gangliosidosis MONDO MONDO:0004589,MONDO:0017719,MONDO:0019058,MONDO:0019706,MONDO:0020244,MONDO:0020262,MONDO:0020282,MONDO:0044976 subclass +MONDO:0018149 GM1 gangliosidosis MONDO MONDO:0017719,MONDO:0019058,MONDO:0019706,MONDO:0020244,MONDO:0020262,MONDO:0020282,MONDO:0044976 subclass MONDO:0018149 GM1 gangliosidosis NCIT NCIT:C84739 one_to_one MONDO:0018149 GM1 gangliosidosis Orphanet Orphanet:354 one_to_one MONDO:0018149 GM1 gangliosidosis SCTID SCTID:124465002 one_to_one @@ -103954,7 +104146,7 @@ MONDO:0018150 Gaucher disease DOID DOID:1926 one_to_one MONDO:0018150 Gaucher disease GARD GARD:0008233 one_to_one MONDO:0018150 Gaucher disease ICD10 ICD10:E75.2,ICD10:E75.22 inexact MONDO:0018150 Gaucher disease MESH MESH:D005776 one_to_one -MONDO:0018150 Gaucher disease MONDO MONDO:0015123,MONDO:0019255,MONDO:0020258,MONDO:0020279 subclass +MONDO:0018150 Gaucher disease MONDO MONDO:0002320,MONDO:0015123,MONDO:0019255,MONDO:0020258,MONDO:0020279 subclass MONDO:0018150 Gaucher disease MedDRA MedDRA:10018048 one_to_one MONDO:0018150 Gaucher disease NCIT NCIT:C61268 one_to_one MONDO:0018150 Gaucher disease Orphanet Orphanet:355 one_to_one @@ -104012,8 +104204,9 @@ MONDO:0018156 3q26q27 microdeletion syndrome ICD10 ICD10:Q93.5 inexact MONDO:0018156 3q26q27 microdeletion syndrome MONDO MONDO:0016902 subclass MONDO:0018156 3q26q27 microdeletion syndrome Orphanet Orphanet:356947 one_to_one MONDO:0018156 3q26q27 microdeletion syndrome UMLS UMLS:CN204590 one_to_one +MONDO:0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis GO GO:0032543 disease_has_basis_in_disruption_of MONDO:0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis ICD10 ICD10:E88.8 inexact -MONDO:0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis MONDO MONDO:0016578 subclass +MONDO:0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis MONDO MONDO:0016578,MONDO:0044970 subclass MONDO:0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis Orphanet Orphanet:35696 one_to_one MONDO:0018157 mitochondrial disorder due to a defect in mitochondrial protein synthesis UMLS UMLS:CN227273 one_to_one MONDO:0018158 mitochondrial DNA depletion syndrome DC DC:0000284 one_to_one @@ -104071,7 +104264,7 @@ MONDO:0018167 primary essential cutis verticis gyrata MONDO MONDO:0019033 subcla MONDO:0018167 primary essential cutis verticis gyrata Orphanet Orphanet:357220 one_to_one MONDO:0018167 primary essential cutis verticis gyrata UMLS UMLS:CN204615 one_to_one MONDO:0018168 primary non-essential cutis verticis gyrata ICD10 ICD10:Q82.8 inexact -MONDO:0018168 primary non-essential cutis verticis gyrata MONDO MONDO:0015983,MONDO:0018798,MONDO:0019033 subclass +MONDO:0018168 primary non-essential cutis verticis gyrata MONDO MONDO:0002320,MONDO:0015983,MONDO:0018798,MONDO:0019033 subclass MONDO:0018168 primary non-essential cutis verticis gyrata Orphanet Orphanet:357225 one_to_one MONDO:0018168 primary non-essential cutis verticis gyrata UMLS UMLS:CN204616 one_to_one MONDO:0018169 morning glory syndrome GARD GARD:0013354 one_to_one @@ -104106,7 +104299,7 @@ MONDO:0018174 hereditary glaucoma GARD GARD:0002486 one_to_one MONDO:0018174 hereditary glaucoma MESH MESH:C580055 one_to_one MONDO:0018174 hereditary glaucoma MONDO MONDO:0015217 excluded_subClassOf MONDO:0018174 hereditary glaucoma MONDO MONDO:0021152 has_modifier -MONDO:0018174 hereditary glaucoma MONDO MONDO:0003847,MONDO:0005041,MONDO:0015107 subclass +MONDO:0018174 hereditary glaucoma MONDO MONDO:0002320,MONDO:0003847,MONDO:0005041,MONDO:0015107 subclass MONDO:0018174 hereditary glaucoma Orphanet Orphanet:359 one_to_one MONDO:0018175 combined deficiency of factor V and factor VIII DC DC:0000517 one_to_one MONDO:0018175 combined deficiency of factor V and factor VIII ICD10 ICD10:D68.8 inexact @@ -104160,7 +104353,7 @@ MONDO:0018183 staphylococcal necrotizing pneumonia ICD10 ICD10:J15.2 one_to_one MONDO:0018183 staphylococcal necrotizing pneumonia MONDO MONDO:0015118,MONDO:0017592 subclass MONDO:0018183 staphylococcal necrotizing pneumonia Orphanet Orphanet:36238 one_to_one MONDO:0018184 gastric linitis plastica ICD10 ICD10:C16.9 inexact -MONDO:0018184 gastric linitis plastica MONDO MONDO:0018501 subclass +MONDO:0018184 gastric linitis plastica MONDO MONDO:0005017,MONDO:0018501 subclass MONDO:0018184 gastric linitis plastica Orphanet Orphanet:36273 one_to_one MONDO:0018184 gastric linitis plastica SCTID SCTID:721629005 one_to_one MONDO:0018185 congenital anomaly of the great veins MONDO MONDO:0018723,MONDO:0019048,MONDO:0019512 subclass @@ -104201,7 +104394,7 @@ MONDO:0018194 sex cord-stromal tumor of testis ICD10 ICD10:C62.1 inexact MONDO:0018194 sex cord-stromal tumor of testis MONDO MONDO:0018191 subclass MONDO:0018194 sex cord-stromal tumor of testis Orphanet Orphanet:363489 one_to_one MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form ICD10 ICD10:E88.8 inexact -MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form MONDO MONDO:0015962,MONDO:0016808,MONDO:0019058,MONDO:0019744 subclass +MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form MONDO MONDO:0002320,MONDO:0015962,MONDO:0016808,MONDO:0019058,MONDO:0019744 subclass MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form Orphanet Orphanet:363534 one_to_one MONDO:0018197 mitochondrial DNA depletion syndrome, hepatocerebrorenal form UMLS UMLS:CN204706 one_to_one MONDO:0018198 acute encephalopathy with biphasic seizures and late reduced diffusion ICD10 ICD10:G40.4 inexact @@ -104226,11 +104419,11 @@ MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome MONDO MONDO:0019303 MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome Orphanet Orphanet:363618 one_to_one MONDO:0018203 LMNA-related cardiocutaneous progeria syndrome UMLS UMLS:CN204714 one_to_one MONDO:0018204 20q11.2 microduplication syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0018204 20q11.2 microduplication syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016970,MONDO:0043005 subclass +MONDO:0018204 20q11.2 microduplication syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016970,MONDO:0043005 subclass MONDO:0018204 20q11.2 microduplication syndrome Orphanet Orphanet:363659 one_to_one MONDO:0018204 20q11.2 microduplication syndrome UMLS UMLS:CN204718 one_to_one MONDO:0018205 distal monosomy 1q ICD10 ICD10:Q93.5 inexact -MONDO:0018205 distal monosomy 1q MONDO MONDO:0015983,MONDO:0016900 subclass +MONDO:0018205 distal monosomy 1q MONDO MONDO:0002320,MONDO:0015983,MONDO:0016900 subclass MONDO:0018205 distal monosomy 1q Orphanet Orphanet:36367 one_to_one MONDO:0018205 distal monosomy 1q SCTID SCTID:717633007 one_to_one MONDO:0018205 distal monosomy 1q UMLS UMLS:C4273897 one_to_one @@ -104238,7 +104431,7 @@ MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthal MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia MONDO MONDO:0011577,MONDO:0016112,MONDO:0020259 subclass MONDO:0018206 childhood-onset autosomal recessive myopathy with external ophthalmoplegia Orphanet Orphanet:363677 one_to_one MONDO:0018207 2p13.2 microdeletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0018207 2p13.2 microdeletion syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016884,MONDO:0043005 subclass +MONDO:0018207 2p13.2 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016884,MONDO:0043005 subclass MONDO:0018207 2p13.2 microdeletion syndrome Orphanet Orphanet:363680 one_to_one MONDO:0018207 2p13.2 microdeletion syndrome UMLS UMLS:CN204723 one_to_one MONDO:0018208 neurofibromatosis type 1 due to NF1 mutation or intragenic deletion ICD10 ICD10:Q85.0 inexact @@ -104261,7 +104454,7 @@ MONDO:0018211 Balint syndrome Orphanet Orphanet:363746 one_to_one MONDO:0018211 Balint syndrome UMLS UMLS:C0270706 one_to_one MONDO:0018212 familial cervical artery dissection ICD10 ICD10:I72.0,ICD10:I72.5 inexact MONDO:0018212 familial cervical artery dissection MONDO MONDO:0021152 has_modifier -MONDO:0018212 familial cervical artery dissection MONDO MONDO:0003847,MONDO:0006061,MONDO:0015953,MONDO:0016517,MONDO:0019110,MONDO:0043218 subclass +MONDO:0018212 familial cervical artery dissection MONDO MONDO:0002320,MONDO:0003847,MONDO:0006061,MONDO:0015953,MONDO:0016517,MONDO:0019110,MONDO:0043218 subclass MONDO:0018212 familial cervical artery dissection Orphanet Orphanet:36382 one_to_one MONDO:0018212 familial cervical artery dissection UMLS UMLS:CN204734 one_to_one MONDO:0018213 hereditary sensory and autonomic neuropathy type 1 DOID DOID:0070162 one_to_one @@ -104302,11 +104495,6 @@ MONDO:0018218 autosomal recessive cerebral atrophy ICD10 ICD10:G31.8 inexact MONDO:0018218 autosomal recessive cerebral atrophy MONDO MONDO:0006025,MONDO:0024237 subclass MONDO:0018218 autosomal recessive cerebral atrophy Orphanet Orphanet:363969 one_to_one MONDO:0018218 autosomal recessive cerebral atrophy UMLS UMLS:CN204742 one_to_one -MONDO:0018220 glycogen storage disease due to glucose-6-phosphatase deficiency ICD10 ICD10:E74.0 inexact -MONDO:0018220 glycogen storage disease due to glucose-6-phosphatase deficiency MESH MESH:D005953 one_to_one -MONDO:0018220 glycogen storage disease due to glucose-6-phosphatase deficiency MONDO MONDO:0002412,MONDO:0015115,MONDO:0019743 subclass -MONDO:0018220 glycogen storage disease due to glucose-6-phosphatase deficiency MedDRA MedDRA:10018464 one_to_one -MONDO:0018220 glycogen storage disease due to glucose-6-phosphatase deficiency Orphanet Orphanet:364 one_to_one MONDO:0018221 immune hydrops fetalis ICD10 ICD10:P56.0 inexact MONDO:0018221 immune hydrops fetalis ICD9 ICD9:773.3 one_to_one MONDO:0018221 immune hydrops fetalis MONDO MONDO:0015193 subclass @@ -104436,7 +104624,7 @@ MONDO:0018247 CADDS ICD10 ICD10:Q87.8 inexact MONDO:0018247 CADDS MONDO MONDO:0010334,MONDO:0015115,MONDO:0015327,MONDO:0019046,MONDO:0019053,MONDO:0019058,MONDO:0024237 subclass MONDO:0018247 CADDS Orphanet Orphanet:369942 one_to_one MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016565,MONDO:0016998,MONDO:0019052,MONDO:0043005 subclass +MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016565,MONDO:0016998,MONDO:0019052,MONDO:0043005 subclass MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome Orphanet Orphanet:369950 one_to_one MONDO:0018248 intellectual disability-seizures-macrocephaly-obesity syndrome UMLS UMLS:CN204818 one_to_one MONDO:0018249 finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome ICD10 ICD10:Q87.2 inexact @@ -104456,7 +104644,7 @@ MONDO:0018252 focal palmoplantar keratoderma with joint keratoses MONDO MONDO:00 MONDO:0018252 focal palmoplantar keratoderma with joint keratoses Orphanet Orphanet:370002 one_to_one MONDO:0018252 focal palmoplantar keratoderma with joint keratoses UMLS UMLS:CN204827 one_to_one MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome ICD10 ICD10:Q87.0 inexact -MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome Orphanet Orphanet:370010 one_to_one MONDO:0018253 intellectual disability-facial dysmorphism-hand anomalies syndrome UMLS UMLS:CN204829 one_to_one MONDO:0018254 spondyloepimetaphyseal dysplasia, Isidor type ICD10 ICD10:Q77.8 inexact @@ -104583,7 +104771,7 @@ MONDO:0018283 primary qualitative or quantitative defects of alpha-dystroglycan MONDO:0018283 primary qualitative or quantitative defects of alpha-dystroglycan MONDO MONDO:0018282 subclass MONDO:0018283 primary qualitative or quantitative defects of alpha-dystroglycan Orphanet Orphanet:371040 one_to_one MONDO:0018284 congenital disorder of glycosylation with neurological involvement ICD10 ICD10:E77.8 inexact -MONDO:0018284 congenital disorder of glycosylation with neurological involvement MONDO MONDO:0015286,MONDO:0019058 subclass +MONDO:0018284 congenital disorder of glycosylation with neurological involvement MONDO MONDO:0002320,MONDO:0015286,MONDO:0019058 subclass MONDO:0018284 congenital disorder of glycosylation with neurological involvement Orphanet Orphanet:371047 one_to_one MONDO:0018285 X-linked congenital disorder of glycosylation with intellectual disability as a major feature ICD10 ICD10:E77.8 inexact MONDO:0018285 X-linked congenital disorder of glycosylation with intellectual disability as a major feature MONDO MONDO:0015920,MONDO:0018284 subclass @@ -104632,7 +104820,7 @@ MONDO:0018296 congenital disorder of glycosylation with developmental anomaly IC MONDO:0018296 congenital disorder of glycosylation with developmental anomaly MONDO MONDO:0015286,MONDO:0015327 subclass MONDO:0018296 congenital disorder of glycosylation with developmental anomaly Orphanet Orphanet:371235 one_to_one MONDO:0018297 hypotonia-speech impairment-severe cognitive delay syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0018297 hypotonia-speech impairment-severe cognitive delay syndrome MONDO MONDO:0015159,MONDO:0015952,MONDO:0015983 subclass +MONDO:0018297 hypotonia-speech impairment-severe cognitive delay syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015952,MONDO:0015983 subclass MONDO:0018297 hypotonia-speech impairment-severe cognitive delay syndrome Orphanet Orphanet:371364 one_to_one MONDO:0018297 hypotonia-speech impairment-severe cognitive delay syndrome UMLS UMLS:CN204877 one_to_one MONDO:0018298 multicentric osteolysis-nodulosis-arthropathy spectrum ICD10 ICD10:Q85.9 one_to_one @@ -104821,7 +105009,8 @@ MONDO:0018327 glomus tumor ICD10 ICD10:D18.0 inexact MONDO:0018327 glomus tumor ICD9 ICD9:239.7 inexact MONDO:0018327 glomus tumor ICDO ICDO:8711/0 one_to_one MONDO:0018327 glomus tumor MESH MESH:D005918 one_to_one -MONDO:0018327 glomus tumor MONDO MONDO:0002789,MONDO:0019099 subclass +MONDO:0018327 glomus tumor MONDO MONDO:0002789 excluded_subClassOf +MONDO:0018327 glomus tumor MONDO MONDO:0002604,MONDO:0019099 subclass MONDO:0018327 glomus tumor NCIT NCIT:C3060 one_to_one MONDO:0018327 glomus tumor Orphanet Orphanet:391651 one_to_one MONDO:0018327 glomus tumor SCTID SCTID:403969002 one_to_one @@ -104885,7 +105074,7 @@ MONDO:0018340 hereditary isolated aplastic anemia ICD10 ICD10:D61.0 inexact MONDO:0018340 hereditary isolated aplastic anemia MONDO MONDO:0001713 subclass MONDO:0018340 hereditary isolated aplastic anemia Orphanet Orphanet:397692 one_to_one MONDO:0018341 3q27.3 microdeletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0018341 3q27.3 microdeletion syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016902,MONDO:0043005 subclass +MONDO:0018341 3q27.3 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016902,MONDO:0043005 subclass MONDO:0018341 3q27.3 microdeletion syndrome Orphanet Orphanet:397695 one_to_one MONDO:0018341 3q27.3 microdeletion syndrome UMLS UMLS:CN225942 one_to_one MONDO:0018342 Joubert syndrome with Jeune asphyxiating thoracic dystrophy ICD10 ICD10:Q04.3 inexact @@ -105238,11 +105427,11 @@ MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis MONDO MOND MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis Orphanet Orphanet:401911 one_to_one MONDO:0018426 AXIN2-related attenuated familial adenomatous polyposis UMLS UMLS:CN226139 one_to_one MONDO:0018428 9q31.1q31.3 microdeletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0018428 9q31.1q31.3 microdeletion syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016908,MONDO:0043005 subclass +MONDO:0018428 9q31.1q31.3 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016908,MONDO:0043005 subclass MONDO:0018428 9q31.1q31.3 microdeletion syndrome Orphanet Orphanet:401923 one_to_one MONDO:0018428 9q31.1q31.3 microdeletion syndrome UMLS UMLS:CN226140 one_to_one MONDO:0018429 14q24.1q24.3 microdeletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0018429 14q24.1q24.3 microdeletion syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016912,MONDO:0043005 subclass +MONDO:0018429 14q24.1q24.3 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016912,MONDO:0043005 subclass MONDO:0018429 14q24.1q24.3 microdeletion syndrome Orphanet Orphanet:401935 one_to_one MONDO:0018429 14q24.1q24.3 microdeletion syndrome UMLS UMLS:CN226142 one_to_one MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome ICD10 ICD10:Q04.3 inexact @@ -105250,6 +105439,7 @@ MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome Orphanet Orphanet:401959 one_to_one MONDO:0018430 partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome UMLS UMLS:CN226145 one_to_one MONDO:0018431 cold-induced sweating syndrome-hyperthermia spectrum ICD10 ICD10:G90.8 inexact +MONDO:0018431 cold-induced sweating syndrome-hyperthermia spectrum MONDO MONDO:0015366 excluded_subClassOf MONDO:0018431 cold-induced sweating syndrome-hyperthermia spectrum MONDO MONDO:0015364 subclass MONDO:0018431 cold-induced sweating syndrome-hyperthermia spectrum Orphanet Orphanet:401993 one_to_one MONDO:0018431 cold-induced sweating syndrome-hyperthermia spectrum UMLS UMLS:CN226150 one_to_one @@ -105297,7 +105487,7 @@ MONDO:0018442 acitretin/etretinate embryopathy MESH MESH:C538169 one_to_one MONDO:0018442 acitretin/etretinate embryopathy MONDO MONDO:0016677 subclass MONDO:0018442 acitretin/etretinate embryopathy Orphanet Orphanet:40366 one_to_one MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome Orphanet Orphanet:404451 one_to_one MONDO:0018443 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome UMLS UMLS:CN226185 one_to_one MONDO:0018444 female infertility due to fertilization defect GO GO:0009566 disease_has_basis_in_disruption_of @@ -105334,7 +105524,7 @@ MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 Orphanet MONDO:0018450 spinal muscular atrophy with respiratory distress type 2 UMLS UMLS:CN226195 one_to_one MONDO:0018451 X-linked distal hereditary motor neuropathy HP HP:0001417 has_modifier MONDO:0018451 X-linked distal hereditary motor neuropathy ICD10 ICD10:G12.2 inexact -MONDO:0018451 X-linked distal hereditary motor neuropathy MONDO MONDO:0000425,MONDO:0018894 subclass +MONDO:0018451 X-linked distal hereditary motor neuropathy MONDO MONDO:0000425,MONDO:0002320,MONDO:0018894 subclass MONDO:0018451 X-linked distal hereditary motor neuropathy Orphanet Orphanet:404538 one_to_one MONDO:0018452 deficiency of the interleukin-36 receptor antagonist ICD10 ICD10:L40.1 inexact MONDO:0018452 deficiency of the interleukin-36 receptor antagonist MONDO MONDO:0017133,MONDO:0017369,MONDO:0017370,MONDO:0017954 subclass @@ -105447,7 +105637,7 @@ MONDO:0018473 hyperlipoproteinemia type 3 Orphanet Orphanet:412 one_to_one MONDO:0018473 hyperlipoproteinemia type 3 SCTID SCTID:398796005 one_to_one MONDO:0018473 hyperlipoproteinemia type 3 UMLS UMLS:C0020479,UMLS:C1862561 inexact MONDO:0018474 13q12.3 microdeletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0018474 13q12.3 microdeletion syndrome MONDO MONDO:0015159,MONDO:0015946,MONDO:0015983,MONDO:0016911,MONDO:0019274,MONDO:0043005 subclass +MONDO:0018474 13q12.3 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015946,MONDO:0015983,MONDO:0016911,MONDO:0019274,MONDO:0043005 subclass MONDO:0018474 13q12.3 microdeletion syndrome Orphanet Orphanet:412035 one_to_one MONDO:0018474 13q12.3 microdeletion syndrome UMLS UMLS:CN237459 one_to_one MONDO:0018475 PRKAR1B-related neurodegenerative dementia with intermediate filaments ICD10 ICD10:G31.8 inexact @@ -105460,7 +105650,7 @@ MONDO:0018476 dystonia-aphonia syndrome Orphanet Orphanet:412217 one_to_one MONDO:0018476 dystonia-aphonia syndrome UMLS UMLS:CN237465 one_to_one MONDO:0018477 bilirubin encephalopathy GARD GARD:0006830 one_to_one MONDO:0018477 bilirubin encephalopathy ICD10 ICD10:P57.9 inexact -MONDO:0018477 bilirubin encephalopathy MONDO MONDO:0017755,MONDO:0019058 subclass +MONDO:0018477 bilirubin encephalopathy MONDO MONDO:0002320,MONDO:0017755,MONDO:0019058 subclass MONDO:0018477 bilirubin encephalopathy Orphanet Orphanet:415286 one_to_one MONDO:0018477 bilirubin encephalopathy SCTID SCTID:50143004 one_to_one MONDO:0018479 congenital adrenal hyperplasia DOID DOID:0050811 one_to_one @@ -105516,7 +105706,7 @@ MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep ap MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea Orphanet Orphanet:420789 one_to_one MONDO:0018489 autoimmune encephalopathy with parasomnia and obstructive sleep apnea UMLS UMLS:CN237490 one_to_one MONDO:0018490 cono-spondylar dysplasia ICD10 ICD10:Q77.7 inexact -MONDO:0018490 cono-spondylar dysplasia MONDO MONDO:0015159,MONDO:0015329,MONDO:0015983,MONDO:0016761 subclass +MONDO:0018490 cono-spondylar dysplasia MONDO MONDO:0002320,MONDO:0015159,MONDO:0015329,MONDO:0015983,MONDO:0016761 subclass MONDO:0018490 cono-spondylar dysplasia Orphanet Orphanet:420794 one_to_one MONDO:0018490 cono-spondylar dysplasia UMLS UMLS:CN237491 one_to_one MONDO:0018491 3-phosphoglycerate dehydrogenase deficiency ICD9 ICD9:270.7 inexact @@ -105547,7 +105737,7 @@ MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorph MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome Orphanet Orphanet:423306 one_to_one MONDO:0018494 microcephaly-short stature-intellectual disability-facial dysmorphism syndrome UMLS UMLS:CN237496 one_to_one MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome ICD10 ICD10:E79.8 inexact -MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO MONDO:0004589,MONDO:0015920,MONDO:0019236 subclass +MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome MONDO MONDO:0015920,MONDO:0019118,MONDO:0019236 subclass MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome Orphanet Orphanet:423479 one_to_one MONDO:0018495 X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome UMLS UMLS:CN237501 one_to_one MONDO:0018496 arx-related encephalopathy-brain malformation spectrum MONDO MONDO:0015620,MONDO:0015921,MONDO:0017122,MONDO:0020119 subclass @@ -105740,7 +105930,7 @@ MONDO:0018542 severe congenital neutropenia SCTID SCTID:89655007 one_to_one MONDO:0018543 autosomal dominant hypocalcemia DOID DOID:0090109 one_to_one MONDO:0018543 autosomal dominant hypocalcemia GARD GARD:0002877,GARD:2877 inexact MONDO:0018543 autosomal dominant hypocalcemia ICD10 ICD10:E20.8 inexact -MONDO:0018543 autosomal dominant hypocalcemia MONDO MONDO:0005557,MONDO:0016390,MONDO:0019052 subclass +MONDO:0018543 autosomal dominant hypocalcemia MONDO MONDO:0002320,MONDO:0005557,MONDO:0016390,MONDO:0019052 subclass MONDO:0018543 autosomal dominant hypocalcemia OMIMPS OMIMPS:601198 one_to_one MONDO:0018543 autosomal dominant hypocalcemia Orphanet Orphanet:428 one_to_one MONDO:0018543 autosomal dominant hypocalcemia SCTID SCTID:711152006 one_to_one @@ -105749,7 +105939,7 @@ MONDO:0018544 X-linked adrenoleukodystrophy GARD GARD:0005758 one_to_one MONDO:0018544 X-linked adrenoleukodystrophy ICD10 ICD10:E71.3,ICD10:E71.52,ICD10:E71.529,ICD10:G37.0 inexact MONDO:0018544 X-linked adrenoleukodystrophy ICD9 ICD9:341.1 inexact MONDO:0018544 X-linked adrenoleukodystrophy MESH MESH:D000326 one_to_one -MONDO:0018544 X-linked adrenoleukodystrophy MONDO MONDO:0000425,MONDO:0015123,MONDO:0015129,MONDO:0015653,MONDO:0015906,MONDO:0015971,MONDO:0016398,MONDO:0019046,MONDO:0019058,MONDO:0019233,MONDO:0020142,MONDO:0024237 subclass +MONDO:0018544 X-linked adrenoleukodystrophy MONDO MONDO:0000425,MONDO:0015129,MONDO:0015653,MONDO:0015906,MONDO:0015971,MONDO:0016398,MONDO:0019046,MONDO:0019058,MONDO:0019233,MONDO:0020142,MONDO:0024237 subclass MONDO:0018544 X-linked adrenoleukodystrophy MedDRA MedDRA:10051260 one_to_one MONDO:0018544 X-linked adrenoleukodystrophy NCIT NCIT:C61252 one_to_one MONDO:0018544 X-linked adrenoleukodystrophy Orphanet Orphanet:43 one_to_one @@ -105773,7 +105963,7 @@ MONDO:0018549 late-onset scapuloperoneal muscular dystrophy with hyaline bodies MONDO:0018549 late-onset scapuloperoneal muscular dystrophy with hyaline bodies MONDO MONDO:0016106 subclass MONDO:0018549 late-onset scapuloperoneal muscular dystrophy with hyaline bodies Orphanet Orphanet:431263 one_to_one MONDO:0018549 late-onset scapuloperoneal muscular dystrophy with hyaline bodies UMLS UMLS:CN237548 one_to_one -MONDO:0018550 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder MONDO MONDO:0004884,MONDO:0015089,MONDO:0015358,MONDO:0018609 subclass +MONDO:0018550 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder MONDO MONDO:0001835,MONDO:0004884,MONDO:0015089,MONDO:0015358,MONDO:0018609 subclass MONDO:0018550 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder Orphanet Orphanet:431320 one_to_one MONDO:0018550 spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder UMLS UMLS:CN237550 one_to_one MONDO:0018551 patent urachus (disease) HP HP:0010479 one_to_one @@ -105847,7 +106037,7 @@ MONDO:0018563 adactyly of foot MONDO MONDO:0017421 subclass MONDO:0018563 adactyly of foot Orphanet Orphanet:435623 one_to_one MONDO:0018563 adactyly of foot SCTID SCTID:66345008 one_to_one MONDO:0018564 3p25.3 microdeletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0018564 3p25.3 microdeletion syndrome MONDO MONDO:0015983,MONDO:0016885 subclass +MONDO:0018564 3p25.3 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0016885 subclass MONDO:0018564 3p25.3 microdeletion syndrome Orphanet Orphanet:435638 one_to_one MONDO:0018564 3p25.3 microdeletion syndrome UMLS UMLS:CN237571 one_to_one MONDO:0018565 congenital urachal anomaly MONDO MONDO:0015934,MONDO:0019720 subclass @@ -105884,7 +106074,7 @@ MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome MONDO MONDO MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome Orphanet Orphanet:436003 one_to_one MONDO:0018571 contractures-developmental delay-Pierre Robin syndrome UMLS UMLS:CN237584 one_to_one MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0020253 subclass +MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0020253 subclass MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome Orphanet Orphanet:436141 one_to_one MONDO:0018572 severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome UMLS UMLS:CN237585 one_to_one MONDO:0018573 intrauterine growth restriction-short stature-early adult-onset diabetes syndrome ICD10 ICD10:Q87.1 inexact @@ -105910,7 +106100,7 @@ MONDO:0018579 disorder of ketone body transport MONDO MONDO:0019223 subclass MONDO:0018579 disorder of ketone body transport Orphanet Orphanet:438072 one_to_one MONDO:0018579 disorder of ketone body transport UMLS UMLS:CN237600 one_to_one MONDO:0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome ICD10 ICD10:G40.4 inexact -MONDO:0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome Orphanet Orphanet:438213 one_to_one MONDO:0018580 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome UMLS UMLS:CN237608 one_to_one MONDO:0018581 progressive encephalomyelitis with rigidity and myoclonus GARD GARD:0013110 one_to_one @@ -105982,7 +106172,7 @@ MONDO:0018597 Plastic bronchitis SCTID SCTID:53926002 one_to_one MONDO:0018597 Plastic bronchitis UMLS UMLS:C0264342 one_to_one MONDO:0018598 neonatal adrenoleukodystrophy GARD GARD:0000559 one_to_one MONDO:0018598 neonatal adrenoleukodystrophy ICD10 ICD10:E71.3,ICD10:E71.511 inexact -MONDO:0018598 neonatal adrenoleukodystrophy MONDO MONDO:0004884,MONDO:0015129,MONDO:0015905,MONDO:0015971,MONDO:0016398,MONDO:0019234,MONDO:0020281 subclass +MONDO:0018598 neonatal adrenoleukodystrophy MONDO MONDO:0004884,MONDO:0015129,MONDO:0015971,MONDO:0016398,MONDO:0019234,MONDO:0020281 subclass MONDO:0018598 neonatal adrenoleukodystrophy NCIT NCIT:C99251 one_to_one MONDO:0018598 neonatal adrenoleukodystrophy Orphanet Orphanet:44 one_to_one MONDO:0018598 neonatal adrenoleukodystrophy SCTID SCTID:238061001 one_to_one @@ -106115,7 +106305,7 @@ MONDO:0018626 paratyphoid fever NCIT NCIT:C34897 one_to_one MONDO:0018626 paratyphoid fever Orphanet Orphanet:443227 one_to_one MONDO:0018626 paratyphoid fever SCTID SCTID:51254007 one_to_one MONDO:0018626 paratyphoid fever UMLS UMLS:C0030528,UMLS:C0343375,UMLS:C0343376,UMLS:C0343377 inexact -MONDO:0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor MONDO MONDO:0021227 disease_arises_from_feature +MONDO:0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor MONDO MONDO:0006174 disease_arises_from_feature MONDO:0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor MONDO MONDO:0020529 subclass MONDO:0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor Orphanet Orphanet:443287 one_to_one MONDO:0018627 ACTH-independent Cushing syndrome due to rare cortisol-producing adrenal tumor UMLS UMLS:CN237670 one_to_one @@ -106138,11 +106328,11 @@ MONDO:0018631 Marie Unna hereditary hypotrichosis MONDO MONDO:0004907 subclass MONDO:0018631 Marie Unna hereditary hypotrichosis Orphanet Orphanet:444 one_to_one MONDO:0018631 Marie Unna hereditary hypotrichosis UMLS UMLS:C2931059 one_to_one MONDO:0018632 11q22.2q22.3 microdeletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0018632 11q22.2q22.3 microdeletion syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016910,MONDO:0043005 subclass +MONDO:0018632 11q22.2q22.3 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016910,MONDO:0043005 subclass MONDO:0018632 11q22.2q22.3 microdeletion syndrome Orphanet Orphanet:444002 one_to_one MONDO:0018632 11q22.2q22.3 microdeletion syndrome UMLS UMLS:CN237678 one_to_one MONDO:0018633 20q11.2 microdeletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0018633 20q11.2 microdeletion syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016918,MONDO:0043005 subclass +MONDO:0018633 20q11.2 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016918,MONDO:0043005 subclass MONDO:0018633 20q11.2 microdeletion syndrome Orphanet Orphanet:444051 one_to_one MONDO:0018633 20q11.2 microdeletion syndrome UMLS UMLS:CN237681 one_to_one MONDO:0018634 hereditary amyloidosis GARD GARD:0006611 one_to_one @@ -106355,7 +106545,7 @@ MONDO:0018676 eosinophilic angiocentric fibrosis Orphanet Orphanet:449566 one_to MONDO:0018677 visceral heterotaxy DOID DOID:0050545 one_to_one MONDO:0018677 visceral heterotaxy EFO EFO:0009081 one_to_one MONDO:0018677 visceral heterotaxy ICD10 ICD10:Q89.3 inexact -MONDO:0018677 visceral heterotaxy MONDO MONDO:0000839,MONDO:0002254,MONDO:0020284 subclass +MONDO:0018677 visceral heterotaxy MONDO MONDO:0002254,MONDO:0020284 subclass MONDO:0018677 visceral heterotaxy MedDRA MedDRA:10067265 one_to_one MONDO:0018677 visceral heterotaxy NCIT NCIT:C117273 one_to_one MONDO:0018677 visceral heterotaxy OMIMPS OMIMPS:306955 one_to_one @@ -106374,7 +106564,7 @@ MONDO:0018680 cutaneous pseudolymphoma NCIT NCIT:C62776 one_to_one MONDO:0018680 cutaneous pseudolymphoma Orphanet Orphanet:451607 one_to_one MONDO:0018680 cutaneous pseudolymphoma SCTID SCTID:128862000 one_to_one MONDO:0018680 cutaneous pseudolymphoma UMLS UMLS:C0311220 one_to_one -MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0019711,MONDO:0043005 subclass +MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0019711,MONDO:0043005 subclass MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome Orphanet Orphanet:453499 one_to_one MONDO:0018681 neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome UMLS UMLS:CN237747 one_to_one MONDO:0018682 congenital insensitivity to pain with severe intellectual disability MONDO MONDO:0015366,MONDO:0015983 subclass @@ -106474,7 +106664,7 @@ MONDO:0018698 hereditary neuroendocrine tumor of small intestine MONDO MONDO:002 MONDO:0018698 hereditary neuroendocrine tumor of small intestine MONDO MONDO:0015616,MONDO:0017128,MONDO:0018510,MONDO:0018538,MONDO:0025511 subclass MONDO:0018698 hereditary neuroendocrine tumor of small intestine Orphanet Orphanet:456333 one_to_one MONDO:0018698 hereditary neuroendocrine tumor of small intestine UMLS UMLS:CN237770,UMLS:CN847586 inexact -MONDO:0018699 pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO MONDO:0015958,MONDO:0016565,MONDO:0017133,MONDO:0018798,MONDO:0019295,MONDO:0019695,MONDO:0019992,MONDO:0020232 subclass +MONDO:0018699 pseudohypoparathyroidism with Albright hereditary osteodystrophy MONDO MONDO:0002320,MONDO:0015958,MONDO:0016565,MONDO:0017133,MONDO:0018798,MONDO:0019295,MONDO:0019695,MONDO:0019992,MONDO:0020232 subclass MONDO:0018699 pseudohypoparathyroidism with Albright hereditary osteodystrophy Orphanet Orphanet:457059 one_to_one MONDO:0018700 pseudohypoparathyroidism without Albright hereditary osteodystrophy MONDO MONDO:0019992 subclass MONDO:0018700 pseudohypoparathyroidism without Albright hereditary osteodystrophy Orphanet Orphanet:457062 one_to_one @@ -106501,9 +106691,9 @@ MONDO:0018708 squamous cell carcinoma of the oral tongue Orphanet Orphanet:45725 MONDO:0018708 squamous cell carcinoma of the oral tongue UMLS UMLS:CN242132 one_to_one MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome MONDO MONDO:0020119 subclass MONDO:0018709 X-linked intellectual disability-hypotonia-movement disorder syndrome Orphanet Orphanet:457260 one_to_one -MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome MONDO MONDO:0014863,MONDO:0015159,MONDO:0015983,MONDO:0019716,MONDO:0043005 subclass +MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome MONDO MONDO:0002320,MONDO:0014863,MONDO:0015159,MONDO:0015983,MONDO:0019716,MONDO:0043005 subclass MONDO:0018710 megalencephaly-severe kyphoscoliosis-overgrowth syndrome Orphanet Orphanet:457359 one_to_one -MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO MONDO:0015159,MONDO:0015329,MONDO:0015983 subclass +MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015329,MONDO:0015983 subclass MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome Orphanet Orphanet:457365 one_to_one MONDO:0018711 intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome UMLS UMLS:CN242088 one_to_one MONDO:0018712 composite hemangioendothelioma ICD10 ICD10:D18.0 inexact @@ -106718,7 +106908,7 @@ MONDO:0018758 familial patent arterial duct UMLS UMLS:CN242171 one_to_one MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome MONDO MONDO:0016106 subclass MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome Orphanet Orphanet:466921 one_to_one MONDO:0018759 childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome UMLS UMLS:CN776870 one_to_one -MONDO:0018760 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0018760 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0018760 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome Orphanet Orphanet:466943 one_to_one MONDO:0018760 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome UMLS UMLS:CN242159 one_to_one MONDO:0018761 SMARCA4-deficient sarcoma of thorax MONDO MONDO:0000376,MONDO:0018078,MONDO:0020034 subclass @@ -106804,7 +106994,7 @@ MONDO:0018778 intermediate Charcot-Marie-tooth disease UMLS UMLS:CN776860 one_to MONDO:0018779 hypercontractile muscle stiffness syndrome MONDO MONDO:0020343 subclass MONDO:0018779 hypercontractile muscle stiffness syndrome Orphanet Orphanet:476403 one_to_one MONDO:0018779 hypercontractile muscle stiffness syndrome UMLS UMLS:CN776841 one_to_one -MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome MONDO MONDO:0015329,MONDO:0015960,MONDO:0018779 subclass +MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome MONDO MONDO:0002320,MONDO:0015329,MONDO:0015960,MONDO:0018779 subclass MONDO:0018780 congenital generalized hypercontractile muscle stiffness syndrome Orphanet Orphanet:476406 one_to_one MONDO:0018781 KID syndrome GARD GARD:0003113 one_to_one MONDO:0018781 KID syndrome ICD10 ICD10:Q80.8 inexact @@ -106970,7 +107160,7 @@ MONDO:0018826 Lewis-Sumner syndrome MedDRA MedDRA:10065580 one_to_one MONDO:0018826 Lewis-Sumner syndrome Orphanet Orphanet:48162 one_to_one MONDO:0018826 Lewis-Sumner syndrome UMLS UMLS:C1695985 one_to_one MONDO:0018827 familial chilblain lupus MONDO MONDO:0021152 has_modifier -MONDO:0018827 familial chilblain lupus MONDO MONDO:0002977,MONDO:0015939,MONDO:0015948,MONDO:0015984,MONDO:0018782,MONDO:0018792,MONDO:0019557,MONDO:0043218 subclass +MONDO:0018827 familial chilblain lupus MONDO MONDO:0002320,MONDO:0002977,MONDO:0015939,MONDO:0015948,MONDO:0015984,MONDO:0018782,MONDO:0018792,MONDO:0019557,MONDO:0043218 subclass MONDO:0018827 familial chilblain lupus OMIMPS OMIMPS:610448 one_to_one MONDO:0018827 familial chilblain lupus Orphanet Orphanet:481662 one_to_one MONDO:0018827 familial chilblain lupus UMLS UMLS:CN776917 one_to_one @@ -107022,7 +107212,7 @@ MONDO:0018838 lissencephaly (disease) HP HP:0001339 disease_has_major_feature MONDO:0018838 lissencephaly (disease) HP HP:0001339 one_to_one MONDO:0018838 lissencephaly (disease) ICD10 ICD10:Q04.3,ICD10:Q04.8 inexact MONDO:0018838 lissencephaly (disease) MESH MESH:D054082 one_to_one -MONDO:0018838 lissencephaly (disease) MONDO MONDO:0002320,MONDO:0015220,MONDO:0015655,MONDO:0015960,MONDO:0015983 subclass +MONDO:0018838 lissencephaly (disease) MONDO MONDO:0015220,MONDO:0015655,MONDO:0015960,MONDO:0015983 subclass MONDO:0018838 lissencephaly (disease) MedDRA MedDRA:10048911 one_to_one MONDO:0018838 lissencephaly (disease) NCIT NCIT:C103921 one_to_one MONDO:0018838 lissencephaly (disease) OMIMPS OMIMPS:607432 one_to_one @@ -107176,7 +107366,7 @@ MONDO:0018859 Leigh disease DOID DOID:3652 one_to_one MONDO:0018859 Leigh disease GARD GARD:0006877 one_to_one MONDO:0018859 Leigh disease ICD10 ICD10:G31.8,ICD10:G31.82 inexact MONDO:0018859 Leigh disease MESH MESH:D007888 one_to_one -MONDO:0018859 Leigh disease MONDO MONDO:0004589,MONDO:0016403,MONDO:0016578,MONDO:0019058,MONDO:0020244,MONDO:0020253,MONDO:0020257,MONDO:0020265 subclass +MONDO:0018859 Leigh disease MONDO MONDO:0016403,MONDO:0016578,MONDO:0019058,MONDO:0020244,MONDO:0020253,MONDO:0020257,MONDO:0020265 subclass MONDO:0018859 Leigh disease MedDRA MedDRA:10062950 one_to_one MONDO:0018859 Leigh disease NCIT NCIT:C84814 one_to_one MONDO:0018859 Leigh disease Orphanet Orphanet:506 one_to_one @@ -107187,7 +107377,7 @@ MONDO:0018860 microlissencephaly-micromelia syndrome Orphanet Orphanet:50810 one MONDO:0018860 microlissencephaly-micromelia syndrome UMLS UMLS:CN205181 one_to_one MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies ICD10 ICD10:Q87.8 inexact MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies MONDO MONDO:0019609 disease_shares_features_of -MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies MONDO MONDO:0015919,MONDO:0015960,MONDO:0016799 subclass +MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies MONDO MONDO:0002320,MONDO:0015919,MONDO:0015960,MONDO:0016799 subclass MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies Orphanet Orphanet:50812 one_to_one MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies SCTID SCTID:718880003 one_to_one MONDO:0018861 Zellweger-like syndrome without peroxisomal anomalies UMLS UMLS:C4305104,UMLS:CN205183 inexact @@ -107208,14 +107398,14 @@ MONDO:0018866 Aicardi-Goutieres syndrome GARD GARD:0000575 one_to_one MONDO:0018866 Aicardi-Goutieres syndrome ICD10 ICD10:G31.8 inexact MONDO:0018866 Aicardi-Goutieres syndrome ICD9 ICD9:333.0 inexact MONDO:0018866 Aicardi-Goutieres syndrome MESH MESH:C535607 one_to_one -MONDO:0018866 Aicardi-Goutieres syndrome MONDO MONDO:0006025,MONDO:0015710,MONDO:0015983,MONDO:0018782,MONDO:0018792,MONDO:0019046 subclass +MONDO:0018866 Aicardi-Goutieres syndrome MONDO MONDO:0002320,MONDO:0006025,MONDO:0015710,MONDO:0015983,MONDO:0018782,MONDO:0018792,MONDO:0019046 subclass MONDO:0018866 Aicardi-Goutieres syndrome OMIMPS OMIMPS:225750 one_to_one MONDO:0018866 Aicardi-Goutieres syndrome Orphanet Orphanet:51 one_to_one MONDO:0018866 Aicardi-Goutieres syndrome SCTID SCTID:230312006 one_to_one MONDO:0018868 metachromatic leukodystrophy DOID DOID:10581 one_to_one MONDO:0018868 metachromatic leukodystrophy ICD10 ICD10:E75.2,ICD10:E75.25,ICD10:E75.29 inexact MONDO:0018868 metachromatic leukodystrophy MESH MESH:D007966 one_to_one -MONDO:0018868 metachromatic leukodystrophy MONDO MONDO:0004589,MONDO:0016133,MONDO:0018299,MONDO:0019046,MONDO:0019058,MONDO:0020142,MONDO:0020244 subclass +MONDO:0018868 metachromatic leukodystrophy MONDO MONDO:0016133,MONDO:0018299,MONDO:0019046,MONDO:0019058,MONDO:0020142,MONDO:0020244 subclass MONDO:0018868 metachromatic leukodystrophy MedDRA MedDRA:10067609 one_to_one MONDO:0018868 metachromatic leukodystrophy NCIT NCIT:C61251 one_to_one MONDO:0018868 metachromatic leukodystrophy Orphanet Orphanet:512 one_to_one @@ -107287,7 +107477,7 @@ MONDO:0018875 Li-Fraumeni syndrome GARD GARD:0006902 one_to_one MONDO:0018875 Li-Fraumeni syndrome ICD10 ICD10:D48.9 inexact MONDO:0018875 Li-Fraumeni syndrome ICD9 ICD9:V84.01 one_to_one MONDO:0018875 Li-Fraumeni syndrome MESH MESH:D016864 one_to_one -MONDO:0018875 Li-Fraumeni syndrome MONDO MONDO:0000426,MONDO:0015356,MONDO:0015513,MONDO:0016756,MONDO:0017820,MONDO:0019117 subclass +MONDO:0018875 Li-Fraumeni syndrome MONDO MONDO:0000426,MONDO:0002320,MONDO:0015356,MONDO:0015513,MONDO:0016756,MONDO:0017820,MONDO:0019117 subclass MONDO:0018875 Li-Fraumeni syndrome MedDRA MedDRA:10066795 one_to_one MONDO:0018875 Li-Fraumeni syndrome NCIT NCIT:C3476 one_to_one MONDO:0018875 Li-Fraumeni syndrome OMIMPS OMIMPS:151623 one_to_one @@ -107407,7 +107597,7 @@ MONDO:0018892 Wyburn-Mason syndrome UMLS UMLS:C0265321 one_to_one MONDO:0018893 Cobb syndrome GARD GARD:0011892 one_to_one MONDO:0018893 Cobb syndrome ICD10 ICD10:Q27.3 inexact MONDO:0018893 Cobb syndrome ICD9 ICD9:239.2 inexact -MONDO:0018893 Cobb syndrome MONDO MONDO:0000648,MONDO:0003110,MONDO:0015145,MONDO:0015356,MONDO:0015948,MONDO:0015950,MONDO:0016234,MONDO:0018729,MONDO:0019117,MONDO:0019293,MONDO:0020036,MONDO:0043218 subclass +MONDO:0018893 Cobb syndrome MONDO MONDO:0000648,MONDO:0002320,MONDO:0003110,MONDO:0015145,MONDO:0015356,MONDO:0015948,MONDO:0015950,MONDO:0016234,MONDO:0018729,MONDO:0019117,MONDO:0019293,MONDO:0020036,MONDO:0043218 subclass MONDO:0018893 Cobb syndrome MedDRA MedDRA:10068841 one_to_one MONDO:0018893 Cobb syndrome NCIT NCIT:C4485 one_to_one MONDO:0018893 Cobb syndrome Orphanet Orphanet:53721 one_to_one @@ -107748,6 +107938,7 @@ MONDO:0018940 congenital myasthenic syndrome HP HP:0003473 disease_has_feature MONDO:0018940 congenital myasthenic syndrome ICD10 ICD10:G70.2 inexact MONDO:0018940 congenital myasthenic syndrome ICD9 ICD9:358.00,ICD9:V17.89 inexact MONDO:0018940 congenital myasthenic syndrome MESH MESH:D020294 one_to_one +MONDO:0018940 congenital myasthenic syndrome MONDO MONDO:0020260 excluded_subClassOf MONDO:0018940 congenital myasthenic syndrome MONDO MONDO:0002254,MONDO:0020124,MONDO:0020127,MONDO:0020169 subclass MONDO:0018940 congenital myasthenic syndrome NCIT NCIT:C84647 one_to_one MONDO:0018940 congenital myasthenic syndrome OMIMPS OMIMPS:601462 one_to_one @@ -107946,7 +108137,7 @@ MONDO:0018965 Alport syndrome NCIT NCIT:C34842 one_to_one MONDO:0018965 Alport syndrome Orphanet Orphanet:63 one_to_one MONDO:0018965 Alport syndrome UMLS UMLS:C1567741 one_to_one MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia ICD10 ICD10:E23.0 inexact -MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia MONDO MONDO:0010615,MONDO:0016463 subclass +MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia MONDO MONDO:0001902,MONDO:0010615,MONDO:0016463 subclass MONDO:0018967 short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia Orphanet Orphanet:632 one_to_one MONDO:0018968 iniencephaly COHD COHD:378848 one_to_one MONDO:0018968 iniencephaly GARD GARD:0010506 one_to_one @@ -107963,14 +108154,14 @@ MONDO:0018969 craniorachischisis (disease) GARD GARD:0010504 one_to_one MONDO:0018969 craniorachischisis (disease) HP HP:0030770 one_to_one MONDO:0018969 craniorachischisis (disease) ICD10 ICD10:Q00.1 one_to_one MONDO:0018969 craniorachischisis (disease) ICD9 ICD9:740.1 one_to_one -MONDO:0018969 craniorachischisis (disease) MONDO MONDO:0002320,MONDO:0017059 subclass +MONDO:0018969 craniorachischisis (disease) MONDO MONDO:0017059 subclass MONDO:0018969 craniorachischisis (disease) MedDRA MedDRA:10011321 one_to_one MONDO:0018969 craniorachischisis (disease) NCIT NCIT:C98907 one_to_one MONDO:0018969 craniorachischisis (disease) Orphanet Orphanet:63260 one_to_one MONDO:0018969 craniorachischisis (disease) SCTID SCTID:32219008 one_to_one MONDO:0018969 craniorachischisis (disease) UMLS UMLS:C0152426 one_to_one MONDO:0018971 isolated oxycephaly ICD10 ICD10:Q75.0 inexact -MONDO:0018971 isolated oxycephaly MONDO MONDO:0015337,MONDO:0020254 subclass +MONDO:0018971 isolated oxycephaly MONDO MONDO:0002320,MONDO:0015337,MONDO:0020254 subclass MONDO:0018971 isolated oxycephaly Orphanet Orphanet:63440 one_to_one MONDO:0018971 isolated oxycephaly SCTID SCTID:48069004 one_to_one MONDO:0018972 rare epithelial tumor of stomach MONDO MONDO:0015881 subclass @@ -108036,7 +108227,7 @@ MONDO:0018981 benign idiopathic neonatal seizures Orphanet Orphanet:64545 one_to MONDO:0018981 benign idiopathic neonatal seizures UMLS UMLS:CN205419 one_to_one MONDO:0018982 Niemann-Pick disease type C ICD10 ICD10:E75.2 inexact MONDO:0018982 Niemann-Pick disease type C MESH MESH:D052556 one_to_one -MONDO:0018982 Niemann-Pick disease type C MONDO MONDO:0001982,MONDO:0004589,MONDO:0015510,MONDO:0015653,MONDO:0015984,MONDO:0017037,MONDO:0018299,MONDO:0019058,MONDO:0020143,MONDO:0020244,MONDO:0020257 subclass +MONDO:0018982 Niemann-Pick disease type C MONDO MONDO:0001982,MONDO:0015510,MONDO:0015653,MONDO:0015984,MONDO:0017037,MONDO:0018299,MONDO:0019058,MONDO:0020143,MONDO:0020244,MONDO:0020257 subclass MONDO:0018982 Niemann-Pick disease type C Orphanet Orphanet:646 one_to_one MONDO:0018982 Niemann-Pick disease type C SCTID SCTID:66751000 one_to_one MONDO:0018983 tolosa-Hunt syndrome DOID DOID:1278 one_to_one @@ -108142,7 +108333,7 @@ MONDO:0018998 Leber congenital amaurosis Orphanet Orphanet:65 one_to_one MONDO:0018998 Leber congenital amaurosis SCTID SCTID:193413001 one_to_one MONDO:0018998 Leber congenital amaurosis UMLS UMLS:C0339527 one_to_one MONDO:0018999 LCAT deficiency ICD10 ICD10:E78.6 inexact -MONDO:0018999 LCAT deficiency MONDO MONDO:0017773,MONDO:0019743,MONDO:0020279 subclass +MONDO:0018999 LCAT deficiency MONDO MONDO:0002320,MONDO:0017773,MONDO:0019743,MONDO:0020279 subclass MONDO:0018999 LCAT deficiency Orphanet Orphanet:650 one_to_one MONDO:0018999 LCAT deficiency SCTID SCTID:49227001 one_to_one MONDO:0019000 perineural cyst EFO EFO:1001858 one_to_one @@ -108246,7 +108437,7 @@ MONDO:0019015 omphalocele (disease) DOID DOID:0060327 one_to_one MONDO:0019015 omphalocele (disease) HP HP:0001539 one_to_one MONDO:0019015 omphalocele (disease) ICD10 ICD10:Q79.2 inexact MONDO:0019015 omphalocele (disease) ICD9 ICD9:756.72 inexact -MONDO:0019015 omphalocele (disease) MONDO MONDO:0000839,MONDO:0015215 subclass +MONDO:0019015 omphalocele (disease) MONDO MONDO:0015215 subclass MONDO:0019015 omphalocele (disease) MedDRA MedDRA:10030308 one_to_one MONDO:0019015 omphalocele (disease) NCIT NCIT:C98997 one_to_one MONDO:0019015 omphalocele (disease) Orphanet Orphanet:660 one_to_one @@ -108329,7 +108520,7 @@ MONDO:0019025 extracutaneous mastocytoma Orphanet Orphanet:66662 one_to_one MONDO:0019025 extracutaneous mastocytoma SCTID SCTID:63175003 one_to_one MONDO:0019025 extracutaneous mastocytoma UMLS UMLS:C0272202 one_to_one MONDO:0019026 autosomal recessive malignant osteopetrosis ICD10 ICD10:Q78.2 inexact -MONDO:0019026 autosomal recessive malignant osteopetrosis MONDO MONDO:0015960,MONDO:0017198,MONDO:0020249 subclass +MONDO:0019026 autosomal recessive malignant osteopetrosis MONDO MONDO:0002320,MONDO:0015960,MONDO:0017198,MONDO:0020249 subclass MONDO:0019026 autosomal recessive malignant osteopetrosis Orphanet Orphanet:667 one_to_one MONDO:0019026 autosomal recessive malignant osteopetrosis SCTID SCTID:367489004 one_to_one MONDO:0019027 otopalatodigital syndrome GARD GARD:0007293 one_to_one @@ -108478,7 +108669,7 @@ MONDO:0019053 peroxisomal disease DOID DOID:906 one_to_one MONDO:0019053 peroxisomal disease GO GO:0005777 disease_has_basis_in_disruption_of MONDO:0019053 peroxisomal disease ICD10 ICD10:E71.5,ICD10:E71.50 inexact MONDO:0019053 peroxisomal disease ICD9 ICD9:277.86,ICD9:277.89 inexact -MONDO:0019053 peroxisomal disease MONDO MONDO:0015955,MONDO:0019052,MONDO:0100033 subclass +MONDO:0019053 peroxisomal disease MONDO MONDO:0002320,MONDO:0015955,MONDO:0019052,MONDO:0100033 subclass MONDO:0019053 peroxisomal disease NCIT NCIT:C85005 one_to_one MONDO:0019053 peroxisomal disease Orphanet Orphanet:68373 one_to_one MONDO:0019053 peroxisomal disease SCTID SCTID:238059005 one_to_one @@ -108547,7 +108738,7 @@ MONDO:0019065 amyloidosis (disease) SCTID SCTID:17602002 one_to_one MONDO:0019065 amyloidosis (disease) UMLS UMLS:C0002726 one_to_one MONDO:0019066 syndrome with brachydactyly HP HP:0001156 disease_has_major_feature MONDO:0019066 syndrome with brachydactyly ICD10 ICD10:Q73.8 inexact -MONDO:0019066 syndrome with brachydactyly MONDO MONDO:0002254,MONDO:0015226,MONDO:0018455 subclass +MONDO:0019066 syndrome with brachydactyly MONDO MONDO:0002254,MONDO:0015226,MONDO:0021004 subclass MONDO:0019066 syndrome with brachydactyly Orphanet Orphanet:69028 one_to_one MONDO:0019066 syndrome with brachydactyly UMLS UMLS:CN205546 one_to_one MONDO:0019067 idiopathic steroid-sensitive nephrotic syndrome ICD10 ICD10:N04.0 inexact @@ -108743,7 +108934,7 @@ MONDO:0019100 neuromyelitis optica Orphanet Orphanet:71211 one_to_one MONDO:0019100 neuromyelitis optica SCTID SCTID:25044007 one_to_one MONDO:0019100 neuromyelitis optica UMLS UMLS:C0027873 one_to_one MONDO:0019101 retinal capillary malformation ICD10 ICD10:D18.0 inexact -MONDO:0019101 retinal capillary malformation MONDO MONDO:0015121,MONDO:0015145,MONDO:0015953,MONDO:0018729,MONDO:0020247,MONDO:0043218 subclass +MONDO:0019101 retinal capillary malformation MONDO MONDO:0015145,MONDO:0015953,MONDO:0015966,MONDO:0018729,MONDO:0020247,MONDO:0021231,MONDO:0021581,MONDO:0043218 subclass MONDO:0019101 retinal capillary malformation Orphanet Orphanet:71213 one_to_one MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome MONDO MONDO:0015877,MONDO:0019589 subclass MONDO:0019102 dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome Orphanet Orphanet:71267 one_to_one @@ -108825,20 +109016,22 @@ MONDO:0019117 genetic nervous system disorder MONDO MONDO:0021150 has_modifier MONDO:0019117 genetic nervous system disorder MONDO MONDO:0005071,MONDO:0020009,MONDO:0021198 subclass MONDO:0019117 genetic nervous system disorder Orphanet Orphanet:71859 one_to_one MONDO:0019117 genetic nervous system disorder UMLS UMLS:CN205639 one_to_one -MONDO:0019118 genetic retinal dystrophy COHD COHD:380395 one_to_one -MONDO:0019118 genetic retinal dystrophy DOID DOID:8501 one_to_one -MONDO:0019118 genetic retinal dystrophy HP HP:0000556 disease_has_feature -MONDO:0019118 genetic retinal dystrophy HP HP:0000556 one_to_one -MONDO:0019118 genetic retinal dystrophy ICD9 ICD9:362.72,ICD9:362.75 inexact -MONDO:0019118 genetic retinal dystrophy MESH MESH:D058499 one_to_one -MONDO:0019118 genetic retinal dystrophy MONDO MONDO:0021150 has_modifier -MONDO:0019118 genetic retinal dystrophy MONDO MONDO:0004580,MONDO:0020238 subclass -MONDO:0019118 genetic retinal dystrophy MedDRA MedDRA:10038857 one_to_one -MONDO:0019118 genetic retinal dystrophy NCIT NCIT:C35625 one_to_one -MONDO:0019118 genetic retinal dystrophy Orphanet Orphanet:71862 one_to_one -MONDO:0019118 genetic retinal dystrophy SCTID SCTID:314407005 one_to_one -MONDO:0019118 genetic retinal dystrophy UBERON UBERON:0000966 disease_causes_dysfunction_of -MONDO:0019118 genetic retinal dystrophy UMLS UMLS:C0854723 one_to_one +MONDO:0019118 inherited retinal dystrophy COHD COHD:377270,COHD:380395 inexact +MONDO:0019118 inherited retinal dystrophy DOID DOID:8500,DOID:8501 inexact +MONDO:0019118 inherited retinal dystrophy HP HP:0000556 disease_has_feature +MONDO:0019118 inherited retinal dystrophy HP HP:0000556 one_to_one +MONDO:0019118 inherited retinal dystrophy ICD10 ICD10:H35.5,ICD10:H35.50 inexact +MONDO:0019118 inherited retinal dystrophy ICD9 ICD9:362.7,ICD9:362.70,ICD9:362.72,ICD9:362.75 inexact +MONDO:0019118 inherited retinal dystrophy MESH MESH:D058499 one_to_one +MONDO:0019118 inherited retinal dystrophy MONDO MONDO:0019118 excluded_subClassOf +MONDO:0019118 inherited retinal dystrophy MONDO MONDO:0021152 has_modifier +MONDO:0019118 inherited retinal dystrophy MONDO MONDO:0004580,MONDO:0020238 subclass +MONDO:0019118 inherited retinal dystrophy MedDRA MedDRA:10038857 one_to_one +MONDO:0019118 inherited retinal dystrophy NCIT NCIT:C35194,NCIT:C35625 inexact +MONDO:0019118 inherited retinal dystrophy Orphanet Orphanet:71862 one_to_one +MONDO:0019118 inherited retinal dystrophy SCTID SCTID:314407005,SCTID:41799005 inexact +MONDO:0019118 inherited retinal dystrophy UBERON UBERON:0000966 disease_causes_dysfunction_of +MONDO:0019118 inherited retinal dystrophy UMLS UMLS:C0154860,UMLS:C0854723 inexact MONDO:0019119 muscular channelopathy EFO EFO:1001899 one_to_one MONDO:0019119 muscular channelopathy MONDO MONDO:0003939,MONDO:0019056,MONDO:0021016 subclass MONDO:0019119 muscular channelopathy Orphanet Orphanet:71864 one_to_one @@ -108923,7 +109116,7 @@ MONDO:0019130 tubular renal disease-cardiomyopathy syndrome MONDO MONDO:0016337 MONDO:0019130 tubular renal disease-cardiomyopathy syndrome Orphanet Orphanet:73224 one_to_one MONDO:0019130 tubular renal disease-cardiomyopathy syndrome UMLS UMLS:CN205654 one_to_one MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome ICD10 ICD10:Q79.8 inexact -MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome MONDO MONDO:0015510,MONDO:0015929,MONDO:0015960,MONDO:0015983,MONDO:0019705 subclass +MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome MONDO MONDO:0002320,MONDO:0015510,MONDO:0015929,MONDO:0015960,MONDO:0015983,MONDO:0019705 subclass MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome Orphanet Orphanet:73230 one_to_one MONDO:0019131 ossification anomalies-psychomotor developmental delay syndrome UMLS UMLS:CN227577 one_to_one MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome ICD10 ICD10:G12.8 inexact @@ -108931,7 +109124,7 @@ MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndro MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome Orphanet Orphanet:73245 one_to_one MONDO:0019132 spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome UMLS UMLS:CN205656 one_to_one MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome Orphanet Orphanet:73246 one_to_one MONDO:0019133 visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome UMLS UMLS:CN205657 one_to_one MONDO:0019134 central neurocytoma DOID DOID:14174 one_to_one @@ -108947,17 +109140,18 @@ MONDO:0019134 central neurocytoma NCIT NCIT:C3791 one_to_one MONDO:0019134 central neurocytoma ONCOTREE ONCOTREE:CNC one_to_one MONDO:0019134 central neurocytoma Orphanet Orphanet:73256 one_to_one MONDO:0019134 central neurocytoma UMLS UMLS:C0206719 one_to_one -MONDO:0019136 zygomycosis COHD COHD:432830 one_to_one -MONDO:0019136 zygomycosis GARD GARD:0010224 one_to_one -MONDO:0019136 zygomycosis ICD10 ICD10:B46,ICD10:B46.0,ICD10:B46.1,ICD10:B46.2,ICD10:B46.3,ICD10:B46.4,ICD10:B46.5,ICD10:B46.8,ICD10:B46.9 inexact -MONDO:0019136 zygomycosis ICD9 ICD9:117.7 one_to_one -MONDO:0019136 zygomycosis MESH MESH:D020096 one_to_one -MONDO:0019136 zygomycosis MONDO MONDO:0015578 subclass -MONDO:0019136 zygomycosis MedDRA MedDRA:10028098,MedDRA:10061418 inexact -MONDO:0019136 zygomycosis NCIT NCIT:C77212 one_to_one -MONDO:0019136 zygomycosis Orphanet Orphanet:73263 one_to_one -MONDO:0019136 zygomycosis SCTID SCTID:59277005 one_to_one -MONDO:0019136 zygomycosis UMLS UMLS:C0043541 one_to_one +MONDO:0019136 Zygomycosis COHD COHD:432830 one_to_one +MONDO:0019136 Zygomycosis GARD GARD:0010224 one_to_one +MONDO:0019136 Zygomycosis ICD10 ICD10:B46,ICD10:B46.0,ICD10:B46.1,ICD10:B46.2,ICD10:B46.3,ICD10:B46.4,ICD10:B46.5,ICD10:B46.8,ICD10:B46.9 inexact +MONDO:0019136 Zygomycosis ICD9 ICD9:117.7 one_to_one +MONDO:0019136 Zygomycosis MESH MESH:D020096 one_to_one +MONDO:0019136 Zygomycosis MONDO MONDO:0002312,MONDO:0005550,MONDO:0015578 subclass +MONDO:0019136 Zygomycosis MedDRA MedDRA:10028098,MedDRA:10061418 inexact +MONDO:0019136 Zygomycosis NCBITaxon NCBITaxon:451507 realized_in_response_to_stimulus +MONDO:0019136 Zygomycosis NCIT NCIT:C77212 one_to_one +MONDO:0019136 Zygomycosis Orphanet Orphanet:73263 one_to_one +MONDO:0019136 Zygomycosis SCTID SCTID:59277005 one_to_one +MONDO:0019136 Zygomycosis UMLS UMLS:C0043541 one_to_one MONDO:0019137 non-24-hour sleep-wake syndrome GARD GARD:0010949 one_to_one MONDO:0019137 non-24-hour sleep-wake syndrome ICD10 ICD10:G47.2,ICD10:G47.24 inexact MONDO:0019137 non-24-hour sleep-wake syndrome MONDO MONDO:0019045,MONDO:0024361 subclass @@ -109075,7 +109269,7 @@ MONDO:0019152 Oguchi disease MESH MESH:C537743 one_to_one MONDO:0019152 Oguchi disease MONDO MONDO:0016293 subclass MONDO:0019152 Oguchi disease Orphanet Orphanet:75382 one_to_one MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome ICD10 ICD10:Q87.8 inexact -MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome MONDO MONDO:0015159,MONDO:0015506,MONDO:0015983 subclass +MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015506,MONDO:0015983 subclass MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome Orphanet Orphanet:75389 one_to_one MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome SCTID SCTID:717943008 one_to_one MONDO:0019153 brain malformation-congenital heart disease-postaxial polydactyly syndrome UMLS UMLS:C4303545 one_to_one @@ -109231,7 +109425,7 @@ MONDO:0019174 infantile Refsum disease GARD GARD:0004648 one_to_one MONDO:0019174 infantile Refsum disease ICD10 ICD10:G60.1 inexact MONDO:0019174 infantile Refsum disease MESH MESH:D052919 one_to_one MONDO:0019174 infantile Refsum disease MONDO MONDO:0009958 excluded_subClassOf -MONDO:0019174 infantile Refsum disease MONDO MONDO:0004589,MONDO:0015327,MONDO:0015653,MONDO:0016398,MONDO:0019234,MONDO:0020044,MONDO:0020142,MONDO:0020244,MONDO:0020281 subclass +MONDO:0019174 infantile Refsum disease MONDO MONDO:0015327,MONDO:0015653,MONDO:0016398,MONDO:0019234,MONDO:0020044,MONDO:0020142,MONDO:0020244,MONDO:0020281 subclass MONDO:0019174 infantile Refsum disease NCIT NCIT:C84789 one_to_one MONDO:0019174 infantile Refsum disease Orphanet Orphanet:772 one_to_one MONDO:0019174 infantile Refsum disease UMLS UMLS:C0282527 one_to_one @@ -109261,7 +109455,7 @@ MONDO:0019180 hereditary hemorrhagic telangiectasia DOID DOID:1270 one_to_one MONDO:0019180 hereditary hemorrhagic telangiectasia ICD10 ICD10:I78.0 one_to_one MONDO:0019180 hereditary hemorrhagic telangiectasia ICD9 ICD9:448.0 one_to_one MONDO:0019180 hereditary hemorrhagic telangiectasia MESH MESH:D013683 one_to_one -MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO MONDO:0000426,MONDO:0001576,MONDO:0015113,MONDO:0015145,MONDO:0015331,MONDO:0015507,MONDO:0015938,MONDO:0015948,MONDO:0015953,MONDO:0017133,MONDO:0018728,MONDO:0019293,MONDO:0020063,MONDO:0020201 subclass +MONDO:0019180 hereditary hemorrhagic telangiectasia MONDO MONDO:0000426,MONDO:0001576,MONDO:0002320,MONDO:0015113,MONDO:0015145,MONDO:0015331,MONDO:0015507,MONDO:0015938,MONDO:0015948,MONDO:0015953,MONDO:0017133,MONDO:0018728,MONDO:0019293,MONDO:0020063,MONDO:0020201 subclass MONDO:0019180 hereditary hemorrhagic telangiectasia MedDRA MedDRA:10019883 one_to_one MONDO:0019180 hereditary hemorrhagic telangiectasia NCIT NCIT:C35064 one_to_one MONDO:0019180 hereditary hemorrhagic telangiectasia OMIMPS OMIMPS:187300 one_to_one @@ -109273,7 +109467,7 @@ MONDO:0019181 non-syndromic X-linked intellectual disability DOID DOID:0050776 o MONDO:0019181 non-syndromic X-linked intellectual disability GARD GARD:0003542 one_to_one MONDO:0019181 non-syndromic X-linked intellectual disability HP HP:0001417 has_modifier MONDO:0019181 non-syndromic X-linked intellectual disability MESH MESH:C564490 one_to_one -MONDO:0019181 non-syndromic X-linked intellectual disability MONDO MONDO:0000425,MONDO:0000509,MONDO:0015108 subclass +MONDO:0019181 non-syndromic X-linked intellectual disability MONDO MONDO:0000425,MONDO:0000509,MONDO:0002320,MONDO:0015108 subclass MONDO:0019181 non-syndromic X-linked intellectual disability OMIMPS OMIMPS:309530 one_to_one MONDO:0019181 non-syndromic X-linked intellectual disability Orphanet Orphanet:777 one_to_one MONDO:0019181 non-syndromic X-linked intellectual disability UMLS UMLS:C3501611 one_to_one @@ -109324,7 +109518,7 @@ MONDO:0019188 Rubinstein-Taybi syndrome GARD GARD:0007593 one_to_one MONDO:0019188 Rubinstein-Taybi syndrome ICD10 ICD10:Q87.2 inexact MONDO:0019188 Rubinstein-Taybi syndrome ICD9 ICD9:759.89 inexact MONDO:0019188 Rubinstein-Taybi syndrome MESH MESH:D012415 one_to_one -MONDO:0019188 Rubinstein-Taybi syndrome MONDO MONDO:0000426,MONDO:0004589,MONDO:0015159,MONDO:0015218,MONDO:0015329,MONDO:0015945,MONDO:0015983,MONDO:0016565,MONDO:0016756,MONDO:0019052,MONDO:0019066,MONDO:0019721,MONDO:0020222,MONDO:0020237,MONDO:0020244,MONDO:0043005 subclass +MONDO:0019188 Rubinstein-Taybi syndrome MONDO MONDO:0000426,MONDO:0015159,MONDO:0015218,MONDO:0015329,MONDO:0015945,MONDO:0015983,MONDO:0016565,MONDO:0016756,MONDO:0019052,MONDO:0019066,MONDO:0019721,MONDO:0020222,MONDO:0020237,MONDO:0020244,MONDO:0043005 subclass MONDO:0019188 Rubinstein-Taybi syndrome MedDRA MedDRA:10039281 one_to_one MONDO:0019188 Rubinstein-Taybi syndrome NCIT NCIT:C75466 one_to_one MONDO:0019188 Rubinstein-Taybi syndrome OMIMPS OMIMPS:180849 one_to_one @@ -109451,7 +109645,7 @@ MONDO:0019206 sparse hair-short stature-skin anomalies syndrome MONDO MONDO:0019 MONDO:0019206 sparse hair-short stature-skin anomalies syndrome Orphanet Orphanet:79132 one_to_one MONDO:0019206 sparse hair-short stature-skin anomalies syndrome UMLS UMLS:CN205797 one_to_one MONDO:0019207 DEND syndrome ICD10 ICD10:P70.2 inexact -MONDO:0019207 DEND syndrome MONDO MONDO:0011643,MONDO:0015650 subclass +MONDO:0019207 DEND syndrome MONDO MONDO:0002320,MONDO:0011643,MONDO:0015650 subclass MONDO:0019207 DEND syndrome NCIT NCIT:C131845 one_to_one MONDO:0019207 DEND syndrome Orphanet Orphanet:79134 one_to_one MONDO:0019207 DEND syndrome SCTID SCTID:721088003 one_to_one @@ -109485,7 +109679,7 @@ MONDO:0019210 cutaneous neuroendocrine carcinoma ICD10 ICD10:C44.3,ICD10:C44.6,I MONDO:0019210 cutaneous neuroendocrine carcinoma ICD9 ICD9:209.36 one_to_one MONDO:0019210 cutaneous neuroendocrine carcinoma ICDO ICDO:8247/3 one_to_one MONDO:0019210 cutaneous neuroendocrine carcinoma MESH MESH:D015266 one_to_one -MONDO:0019210 cutaneous neuroendocrine carcinoma MONDO MONDO:0002120,MONDO:0002656,MONDO:0003363,MONDO:0004993,MONDO:0005872,MONDO:0015081,MONDO:0015946,MONDO:0015960,MONDO:0017341,MONDO:0019117,MONDO:0019291,MONDO:0019300,MONDO:0020036,MONDO:0021635,MONDO:0025511 subclass +MONDO:0019210 cutaneous neuroendocrine carcinoma MONDO MONDO:0002120,MONDO:0002320,MONDO:0002656,MONDO:0003363,MONDO:0004993,MONDO:0005872,MONDO:0015081,MONDO:0015946,MONDO:0015960,MONDO:0017341,MONDO:0019117,MONDO:0019291,MONDO:0019300,MONDO:0020036,MONDO:0021635,MONDO:0025511 subclass MONDO:0019210 cutaneous neuroendocrine carcinoma NCIT NCIT:C35899,NCIT:C35903,NCIT:C35913,NCIT:C35960,NCIT:C43574,NCIT:C60880,NCIT:C60881 has_finding MONDO:0019210 cutaneous neuroendocrine carcinoma NCIT NCIT:C9231 one_to_one MONDO:0019210 cutaneous neuroendocrine carcinoma ONCOTREE ONCOTREE:MCC one_to_one @@ -109502,7 +109696,7 @@ MONDO:0019212 disseminated superficial actinic porokeratosis MONDO MONDO:0022202 MONDO:0019212 disseminated superficial actinic porokeratosis MONDO MONDO:0006602,MONDO:0015946,MONDO:0015960 subclass MONDO:0019212 disseminated superficial actinic porokeratosis Orphanet Orphanet:79152 one_to_one MONDO:0019212 disseminated superficial actinic porokeratosis SCTID SCTID:41495000 one_to_one -MONDO:0019213 cerebral organic aciduria MONDO MONDO:0000688,MONDO:0005560,MONDO:0019117 subclass +MONDO:0019213 cerebral organic aciduria MONDO MONDO:0000688,MONDO:0002320,MONDO:0005560,MONDO:0019117 subclass MONDO:0019213 cerebral organic aciduria Orphanet Orphanet:79158 one_to_one MONDO:0019213 cerebral organic aciduria UBERON UBERON:0000955 disease_has_location MONDO:0019214 inborn carbohydrate metabolic disorder DOID DOID:2978 one_to_one @@ -109664,7 +109858,7 @@ MONDO:0019249 mucopolysaccharidosis GO GO:1903510 disease_has_basis_in_disruptio MONDO:0019249 mucopolysaccharidosis ICD10 ICD10:E76.0,ICD10:E76.1,ICD10:E76.2,ICD10:E76.3 inexact MONDO:0019249 mucopolysaccharidosis ICD9 ICD9:277.5 one_to_one MONDO:0019249 mucopolysaccharidosis MESH MESH:D009083 one_to_one -MONDO:0019249 mucopolysaccharidosis MONDO MONDO:0002561,MONDO:0015327,MONDO:0015960,MONDO:0019214,MONDO:0020222 subclass +MONDO:0019249 mucopolysaccharidosis MONDO MONDO:0002320,MONDO:0002561,MONDO:0015327,MONDO:0015960,MONDO:0019214,MONDO:0020222 subclass MONDO:0019249 mucopolysaccharidosis MedDRA MedDRA:10028093 one_to_one MONDO:0019249 mucopolysaccharidosis NCIT NCIT:C61259 one_to_one MONDO:0019249 mucopolysaccharidosis OMIMPS OMIMPS:607014 one_to_one @@ -109681,7 +109875,7 @@ MONDO:0019251 oligosaccharidosis Orphanet Orphanet:79215 one_to_one MONDO:0019252 other metabolic disease with skin involvement MONDO MONDO:0019301 subclass MONDO:0019252 other metabolic disease with skin involvement Orphanet Orphanet:79217 one_to_one MONDO:0019252 other metabolic disease with skin involvement UMLS UMLS:CN205838 one_to_one -MONDO:0019253 metabolic disease involving other neurotransmitter deficiency MONDO MONDO:0015955,MONDO:0016404,MONDO:0019250 subclass +MONDO:0019253 metabolic disease involving other neurotransmitter deficiency MONDO MONDO:0002320,MONDO:0015955,MONDO:0016404,MONDO:0019250 subclass MONDO:0019253 metabolic disease involving other neurotransmitter deficiency Orphanet Orphanet:79219 one_to_one MONDO:0019253 metabolic disease involving other neurotransmitter deficiency UMLS UMLS:CN205839 one_to_one MONDO:0019254 inborn disorder of purine or pyrimidine metabolism DOID DOID:653 one_to_one @@ -109903,7 +110097,7 @@ MONDO:0019295 other dermis disorder MONDO MONDO:0019291 subclass MONDO:0019295 other dermis disorder Orphanet Orphanet:79381 one_to_one MONDO:0019295 other dermis disorder UMLS UMLS:CN227618 one_to_one MONDO:0019296 subcutaneous tissue disease MONDO MONDO:0019043 excluded_subClassOf -MONDO:0019296 subcutaneous tissue disease MONDO MONDO:0000001,MONDO:0002051,MONDO:0045027 subclass +MONDO:0019296 subcutaneous tissue disease MONDO MONDO:0000001,MONDO:0002051 subclass MONDO:0019296 subcutaneous tissue disease Orphanet Orphanet:79382 one_to_one MONDO:0019296 subcutaneous tissue disease UBERON UBERON:0011818 disease_has_location MONDO:0019296 subcutaneous tissue disease UMLS UMLS:C1290008 one_to_one @@ -109991,7 +110185,7 @@ MONDO:0019313 hereditary lymphedema GARD GARD:0007220 one_to_one MONDO:0019313 hereditary lymphedema ICD10 ICD10:Q82.0 inexact MONDO:0019313 hereditary lymphedema ICD9 ICD9:757.0 inexact MONDO:0019313 hereditary lymphedema MONDO MONDO:0021152 has_modifier -MONDO:0019313 hereditary lymphedema MONDO MONDO:0003847,MONDO:0015984,MONDO:0016229,MONDO:0019175,MONDO:0019297,MONDO:0020202 subclass +MONDO:0019313 hereditary lymphedema MONDO MONDO:0002320,MONDO:0003847,MONDO:0015984,MONDO:0016229,MONDO:0019175,MONDO:0019297,MONDO:0020202 subclass MONDO:0019313 hereditary lymphedema OMIMPS OMIMPS:153100 one_to_one MONDO:0019313 hereditary lymphedema Orphanet Orphanet:79452 one_to_one MONDO:0019314 cutaneous mastocytoma GARD GARD:0012687 one_to_one @@ -110146,11 +110340,12 @@ MONDO:0019338 sarcoidosis DOID DOID:11335 one_to_one MONDO:0019338 sarcoidosis ICD10 ICD10:D80-D89,ICD10:D86,ICD10:D86.0,ICD10:D86.1,ICD10:D86.2,ICD10:D86.3,ICD10:D86.8,ICD10:D86.9 inexact MONDO:0019338 sarcoidosis ICD9 ICD9:135 inexact MONDO:0019338 sarcoidosis MESH MESH:D012507 one_to_one -MONDO:0019338 sarcoidosis MONDO MONDO:0002459,MONDO:0007179,MONDO:0016345 excluded_subClassOf -MONDO:0019338 sarcoidosis MONDO MONDO:0015657,MONDO:0016177,MONDO:0017259,MONDO:0017260,MONDO:0017261,MONDO:0017955,MONDO:0019724,MONDO:0019843 subclass +MONDO:0019338 sarcoidosis MONDO MONDO:0002459,MONDO:0007179,MONDO:0015657,MONDO:0016177,MONDO:0016345,MONDO:0017259,MONDO:0017260,MONDO:0017261,MONDO:0019724,MONDO:0019843 excluded_subClassOf +MONDO:0019338 sarcoidosis MONDO MONDO:0015938,MONDO:0017955 subclass MONDO:0019338 sarcoidosis MedDRA MedDRA:10039486 one_to_one MONDO:0019338 sarcoidosis NCIT NCIT:C34995 one_to_one MONDO:0019338 sarcoidosis Orphanet Orphanet:797 one_to_one +MONDO:0019338 sarcoidosis SCTID SCTID:31541009 one_to_one MONDO:0019338 sarcoidosis UMLS UMLS:C0036202 one_to_one MONDO:0019339 47,XYY syndrome GARD GARD:0005674 one_to_one MONDO:0019339 47,XYY syndrome ICD10 ICD10:Q98.5 one_to_one @@ -110208,7 +110403,7 @@ MONDO:0019345 shigellosis Orphanet Orphanet:810 one_to_one MONDO:0019345 shigellosis SCTID SCTID:36188001 one_to_one MONDO:0019346 sialidosis type 1 GARD GARD:0007639 one_to_one MONDO:0019346 sialidosis type 1 ICD10 ICD10:E77.1 inexact -MONDO:0019346 sialidosis type 1 MONDO MONDO:0015960,MONDO:0017734,MONDO:0019058,MONDO:0020282 subclass +MONDO:0019346 sialidosis type 1 MONDO MONDO:0002320,MONDO:0015960,MONDO:0017734,MONDO:0019058,MONDO:0020282 subclass MONDO:0019346 sialidosis type 1 Orphanet Orphanet:812 one_to_one MONDO:0019346 sialidosis type 1 SCTID SCTID:34960006 one_to_one MONDO:0019346 sialidosis type 1 UMLS UMLS:C0023806,UMLS:CN206021 inexact @@ -110269,7 +110464,7 @@ MONDO:0019354 Stickler syndrome DOID DOID:0080046 one_to_one MONDO:0019354 Stickler syndrome GARD GARD:0010782 one_to_one MONDO:0019354 Stickler syndrome ICD10 ICD10:Q87.0 inexact MONDO:0019354 Stickler syndrome ICD9 ICD9:759.89 inexact -MONDO:0019354 Stickler syndrome MONDO MONDO:0015218,MONDO:0015318,MONDO:0015958,MONDO:0016761,MONDO:0017133,MONDO:0019589,MONDO:0020208,MONDO:0020222,MONDO:0020232,MONDO:0020248,MONDO:0024237 subclass +MONDO:0019354 Stickler syndrome MONDO MONDO:0015218,MONDO:0015318,MONDO:0015958,MONDO:0016761,MONDO:0017133,MONDO:0019589,MONDO:0020208,MONDO:0020222,MONDO:0020232,MONDO:0020248 subclass MONDO:0019354 Stickler syndrome MedDRA MedDRA:10063402 one_to_one MONDO:0019354 Stickler syndrome NCIT NCIT:C74984 one_to_one MONDO:0019354 Stickler syndrome OMIMPS OMIMPS:108300 one_to_one @@ -111013,7 +111208,8 @@ MONDO:0019469 T-cell large granular lymphocyte leukemia DOID DOID:0050751 one_to MONDO:0019469 T-cell large granular lymphocyte leukemia GARD GARD:0009812 one_to_one MONDO:0019469 T-cell large granular lymphocyte leukemia ICD9 ICD9:204.80 inexact MONDO:0019469 T-cell large granular lymphocyte leukemia ICDO ICDO:9768/1,ICDO:9831/1,ICDO:9831/3 inexact -MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO MONDO:0000430,MONDO:0004948,MONDO:0015822 subclass +MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO MONDO:0004948 excluded_subClassOf +MONDO:0019469 T-cell large granular lymphocyte leukemia MONDO MONDO:0000430,MONDO:0001014,MONDO:0005402,MONDO:0015822,MONDO:0019684 subclass MONDO:0019469 T-cell large granular lymphocyte leukemia MedDRA MedDRA:10065862 one_to_one MONDO:0019469 T-cell large granular lymphocyte leukemia NCIT NCIT:C2863,NCIT:C3384,NCIT:C34705,NCIT:C36105 has_finding MONDO:0019469 T-cell large granular lymphocyte leukemia NCIT NCIT:C4664 one_to_one @@ -111226,7 +111422,7 @@ MONDO:0019501 Usher syndrome DOID DOID:0050439 one_to_one MONDO:0019501 Usher syndrome GARD GARD:0007843 one_to_one MONDO:0019501 Usher syndrome ICD10 ICD10:H35.5 inexact MONDO:0019501 Usher syndrome MESH MESH:D052245 one_to_one -MONDO:0019501 Usher syndrome MONDO MONDO:0004589,MONDO:0006025,MONDO:0019589,MONDO:0020240 subclass +MONDO:0019501 Usher syndrome MONDO MONDO:0006025,MONDO:0019589,MONDO:0020240 subclass MONDO:0019501 Usher syndrome MedDRA MedDRA:10063396 one_to_one MONDO:0019501 Usher syndrome NCIT NCIT:C85217 one_to_one MONDO:0019501 Usher syndrome OMIMPS OMIMPS:276900 one_to_one @@ -111234,7 +111430,7 @@ MONDO:0019501 Usher syndrome Orphanet Orphanet:886 one_to_one MONDO:0019501 Usher syndrome UMLS UMLS:C0271097 one_to_one MONDO:0019502 autosomal recessive non-syndromic intellectual disability DOID DOID:0060308 one_to_one MONDO:0019502 autosomal recessive non-syndromic intellectual disability HP HP:0000007 has_modifier -MONDO:0019502 autosomal recessive non-syndromic intellectual disability MONDO MONDO:0000509,MONDO:0006025,MONDO:0015108 subclass +MONDO:0019502 autosomal recessive non-syndromic intellectual disability MONDO MONDO:0000509,MONDO:0002320,MONDO:0006025,MONDO:0015108 subclass MONDO:0019502 autosomal recessive non-syndromic intellectual disability OMIMPS OMIMPS:249500 one_to_one MONDO:0019502 autosomal recessive non-syndromic intellectual disability Orphanet Orphanet:88616 one_to_one MONDO:0019502 autosomal recessive non-syndromic intellectual disability UMLS UMLS:CN206293 one_to_one @@ -111358,7 +111554,7 @@ MONDO:0019521 centripetalis recessive dystrophic epidermolysis bullosa Orphanet MONDO:0019521 centripetalis recessive dystrophic epidermolysis bullosa UMLS UMLS:C4511056 one_to_one MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other GARD GARD:0012794 one_to_one MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other ICD10 ICD10:Q81.2 inexact -MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other MONDO MONDO:0016997,MONDO:0017608 subclass +MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other MONDO MONDO:0002320,MONDO:0016997,MONDO:0017608 subclass MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other Orphanet Orphanet:89842 one_to_one MONDO:0019522 recessive dystrophic epidermolysis bullosa-generalized other UMLS UMLS:CN206337 one_to_one MONDO:0019523 Walker-Warburg syndrome DOID DOID:0050560 one_to_one @@ -111505,7 +111701,7 @@ MONDO:0019547 Wells syndrome UMLS UMLS:C0343101 one_to_one MONDO:0019548 autosomal dominant intermediate Charcot-Marie-tooth disease GARD GARD:0012436 one_to_one MONDO:0019548 autosomal dominant intermediate Charcot-Marie-tooth disease HP HP:0000006 has_modifier MONDO:0019548 autosomal dominant intermediate Charcot-Marie-tooth disease ICD10 ICD10:G60.0 inexact -MONDO:0019548 autosomal dominant intermediate Charcot-Marie-tooth disease MONDO MONDO:0000426,MONDO:0018778 subclass +MONDO:0019548 autosomal dominant intermediate Charcot-Marie-tooth disease MONDO MONDO:0000426,MONDO:0002320,MONDO:0018778 subclass MONDO:0019548 autosomal dominant intermediate Charcot-Marie-tooth disease Orphanet Orphanet:90114 one_to_one MONDO:0019548 autosomal dominant intermediate Charcot-Marie-tooth disease UMLS UMLS:CN206376 one_to_one MONDO:0019549 severe early-onset axonal neuropathy due to MFN2 deficiency ICD10 ICD10:G60.0 inexact @@ -111797,14 +111993,14 @@ MONDO:0019600 xeroderma pigmentosum SCTID SCTID:44600005 one_to_one MONDO:0019600 xeroderma pigmentosum UMLS UMLS:C0043346 one_to_one MONDO:0019601 autosomal recessive axonal hereditary motor and sensory neuropathy HP HP:0000007 has_modifier MONDO:0019601 autosomal recessive axonal hereditary motor and sensory neuropathy ICD10 ICD10:G60.0 inexact -MONDO:0019601 autosomal recessive axonal hereditary motor and sensory neuropathy MONDO MONDO:0006025,MONDO:0018775 subclass +MONDO:0019601 autosomal recessive axonal hereditary motor and sensory neuropathy MONDO MONDO:0002320,MONDO:0006025,MONDO:0018775 subclass MONDO:0019601 autosomal recessive axonal hereditary motor and sensory neuropathy Orphanet Orphanet:91024 one_to_one MONDO:0019601 autosomal recessive axonal hereditary motor and sensory neuropathy UMLS UMLS:CN206449 one_to_one MONDO:0019602 other inborn metabolic disease MONDO MONDO:0019052 subclass MONDO:0019602 other inborn metabolic disease Orphanet Orphanet:91088 one_to_one MONDO:0019602 other inborn metabolic disease UMLS UMLS:CN206450 one_to_one MONDO:0019603 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome ICD10 ICD10:Q87.5 inexact -MONDO:0019603 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0019603 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0019603 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome Orphanet Orphanet:91133 one_to_one MONDO:0019603 osteopenia-myopia-hearing loss-intellectual disability-facial dysmorphism syndrome SCTID SCTID:722111004 one_to_one MONDO:0019604 acquired monoclonal Ig light chain-associated Fanconi syndrome ICD10 ICD10:E72.0 inexact @@ -111830,7 +112026,7 @@ MONDO:0019609 Zellweger syndrome DOID DOID:905 one_to_one MONDO:0019609 Zellweger syndrome GARD GARD:0007917 one_to_one MONDO:0019609 Zellweger syndrome ICD10 ICD10:E71.510,ICD10:Q87.8 inexact MONDO:0019609 Zellweger syndrome MESH MESH:D015211 one_to_one -MONDO:0019609 Zellweger syndrome MONDO MONDO:0004589,MONDO:0004884,MONDO:0015327,MONDO:0015960,MONDO:0016398,MONDO:0017133,MONDO:0019234,MONDO:0019743,MONDO:0020234,MONDO:0020244,MONDO:0020280,MONDO:0020281 subclass +MONDO:0019609 Zellweger syndrome MONDO MONDO:0004884,MONDO:0015327,MONDO:0015960,MONDO:0016398,MONDO:0017133,MONDO:0019234,MONDO:0019743,MONDO:0020234,MONDO:0020244,MONDO:0020280,MONDO:0020281 subclass MONDO:0019609 Zellweger syndrome NCIT NCIT:C85239 one_to_one MONDO:0019609 Zellweger syndrome Orphanet Orphanet:912 one_to_one MONDO:0019609 Zellweger syndrome SCTID SCTID:88469006 one_to_one @@ -111852,6 +112048,7 @@ MONDO:0019611 TSH-secreting pituitary adenoma MONDO MONDO:0003837 subclass MONDO:0019611 TSH-secreting pituitary adenoma NCIT NCIT:C8011 one_to_one MONDO:0019611 TSH-secreting pituitary adenoma Orphanet Orphanet:91347 one_to_one MONDO:0019611 TSH-secreting pituitary adenoma UMLS UMLS:C0346303 one_to_one +MONDO:0019612 functioning gonadotropic adenoma GO GO:0032274 realized_in MONDO:0019612 functioning gonadotropic adenoma ICD10 ICD10:D35.2 inexact MONDO:0019612 functioning gonadotropic adenoma MONDO MONDO:0003429 subclass MONDO:0019612 functioning gonadotropic adenoma Orphanet Orphanet:91348 one_to_one @@ -111860,7 +112057,8 @@ MONDO:0019612 functioning gonadotropic adenoma UMLS UMLS:C0346304 one_to_one MONDO:0019613 non-functioning pituitary adenoma DOID DOID:5715 one_to_one MONDO:0019613 non-functioning pituitary adenoma EFO EFO:0008516 one_to_one MONDO:0019613 non-functioning pituitary adenoma ICD10 ICD10:D35.2 inexact -MONDO:0019613 non-functioning pituitary adenoma MONDO MONDO:0003603,MONDO:0004972,MONDO:0006373,MONDO:0021119 subclass +MONDO:0019613 non-functioning pituitary adenoma MONDO MONDO:0003603,MONDO:0004972,MONDO:0006373 subclass +MONDO:0019613 non-functioning pituitary adenoma NCIT NCIT:C45980 has_modifier MONDO:0019613 non-functioning pituitary adenoma NCIT NCIT:C4348 one_to_one MONDO:0019613 non-functioning pituitary adenoma Orphanet Orphanet:91349 one_to_one MONDO:0019613 non-functioning pituitary adenoma SCTID SCTID:254962005 one_to_one @@ -112534,9 +112732,9 @@ MONDO:0019754 multicentric Castleman disease NCIT NCIT:C27855 one_to_one MONDO:0019754 multicentric Castleman disease Orphanet Orphanet:93686 one_to_one MONDO:0019754 multicentric Castleman disease UMLS UMLS:C1334815 one_to_one MONDO:0019754 multicentric Castleman disease url url:https://rarediseases.info.nih.gov/diseases/9644/multicentric-castleman-disease one_to_one -MONDO:0019755 developmental defect during embryogenesis GO GO:0048598 disease_disrupts +MONDO:0019755 developmental defect during embryogenesis GO GO:0048598 disease_has_basis_in_disruption_of MONDO:0019755 developmental defect during embryogenesis ICD9 ICD9:759.7 one_to_one -MONDO:0019755 developmental defect during embryogenesis MONDO MONDO:0000001,MONDO:0021147 subclass +MONDO:0019755 developmental defect during embryogenesis MONDO MONDO:0000001,MONDO:0000839,MONDO:0021147 subclass MONDO:0019755 developmental defect during embryogenesis NCIT NCIT:C99267 one_to_one MONDO:0019755 developmental defect during embryogenesis Orphanet Orphanet:93890 one_to_one MONDO:0019755 developmental defect during embryogenesis SCTID SCTID:400038003 one_to_one @@ -112672,12 +112870,12 @@ MONDO:0019783 neovascular glaucoma SCTID SCTID:232086000 one_to_one MONDO:0019783 neovascular glaucoma UMLS UMLS:C0017609 one_to_one MONDO:0019784 12q14 microdeletion syndrome GARD GARD:0013390 one_to_one MONDO:0019784 12q14 microdeletion syndrome ICD10 ICD10:Q93.5 inexact -MONDO:0019784 12q14 microdeletion syndrome MONDO MONDO:0015958,MONDO:0015983,MONDO:0016877,MONDO:0019703 subclass +MONDO:0019784 12q14 microdeletion syndrome MONDO MONDO:0002320,MONDO:0015958,MONDO:0015983,MONDO:0016877,MONDO:0019703 subclass MONDO:0019784 12q14 microdeletion syndrome Orphanet Orphanet:94063 one_to_one MONDO:0019784 12q14 microdeletion syndrome SCTID SCTID:719046005 one_to_one MONDO:0019784 12q14 microdeletion syndrome UMLS UMLS:C4305140,UMLS:CN206727 inexact MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia ICD10 ICD10:Q87.8 inexact -MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0019786 severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia Orphanet Orphanet:94066 one_to_one MONDO:0019787 autoimmune enteropathy GARD GARD:0008689 one_to_one MONDO:0019787 autoimmune enteropathy ICD9 ICD9:279.49 inexact @@ -113272,16 +113470,15 @@ MONDO:0019926 X small rings ICD10 ICD10:Q99.8 inexact MONDO:0019926 X small rings MONDO MONDO:0018413,MONDO:0019852,MONDO:0020062 subclass MONDO:0019926 X small rings Orphanet Orphanet:96201 one_to_one MONDO:0019927 growth hormone-producing pituitary gland neoplasm CL CL:0002312 disease_arises_from_structure -MONDO:0019927 growth hormone-producing pituitary gland neoplasm ICD10 ICD10:D35.2,ICD10:E22.0 inexact -MONDO:0019927 growth hormone-producing pituitary gland neoplasm MONDO MONDO:0003429 subclass +MONDO:0019927 growth hormone-producing pituitary gland neoplasm GO GO:0030252 realized_in +MONDO:0019927 growth hormone-producing pituitary gland neoplasm MONDO MONDO:0005070,MONDO:0005626,MONDO:0017611 subclass MONDO:0019927 growth hormone-producing pituitary gland neoplasm NCIT NCIT:C7911 one_to_one -MONDO:0019927 growth hormone-producing pituitary gland neoplasm Orphanet Orphanet:96256 one_to_one MONDO:0019927 growth hormone-producing pituitary gland neoplasm UBERON UBERON:0000007 disease_has_location MONDO:0019927 growth hormone-producing pituitary gland neoplasm UMLS UMLS:C0278864 one_to_one MONDO:0019928 48,XXXY syndrome GARD GARD:0005676 one_to_one MONDO:0019928 48,XXXY syndrome ICD10 ICD10:Q98.1 inexact MONDO:0019928 48,XXXY syndrome ICD9 ICD9:758.81 inexact -MONDO:0019928 48,XXXY syndrome MONDO MONDO:0015620,MONDO:0015983,MONDO:0017001,MONDO:0017975,MONDO:0020090 subclass +MONDO:0019928 48,XXXY syndrome MONDO MONDO:0002320,MONDO:0015620,MONDO:0015983,MONDO:0017001,MONDO:0017975,MONDO:0020090 subclass MONDO:0019928 48,XXXY syndrome MedDRA MedDRA:10048228 one_to_one MONDO:0019928 48,XXXY syndrome NCIT NCIT:C89799 one_to_one MONDO:0019928 48,XXXY syndrome Orphanet Orphanet:96263 one_to_one @@ -113290,7 +113487,7 @@ MONDO:0019928 48,XXXY syndrome UMLS UMLS:C0265498 one_to_one MONDO:0019929 49,XXXXY syndrome GARD GARD:0005679 one_to_one MONDO:0019929 49,XXXXY syndrome ICD10 ICD10:Q98.1 inexact MONDO:0019929 49,XXXXY syndrome ICD9 ICD9:758.81 inexact -MONDO:0019929 49,XXXXY syndrome MONDO MONDO:0015620,MONDO:0015983,MONDO:0017001,MONDO:0017975,MONDO:0020090 subclass +MONDO:0019929 49,XXXXY syndrome MONDO MONDO:0002320,MONDO:0015620,MONDO:0015983,MONDO:0017001,MONDO:0017975,MONDO:0020090 subclass MONDO:0019929 49,XXXXY syndrome Orphanet Orphanet:96264 one_to_one MONDO:0019929 49,XXXXY syndrome SCTID SCTID:38847009 one_to_one MONDO:0019929 49,XXXXY syndrome UMLS UMLS:C0265499 one_to_one @@ -113730,7 +113927,7 @@ MONDO:0020020 visceral malformation of the liver, biliary tract, pancreas or spl MONDO:0020021 diaphragmatic or abdominal wall malformation MONDO MONDO:0015621,MONDO:0019755 subclass MONDO:0020021 diaphragmatic or abdominal wall malformation Orphanet Orphanet:98043 one_to_one MONDO:0020022 central nervous system malformation MESH MESH:D009421 one_to_one -MONDO:0020022 central nervous system malformation MONDO MONDO:0019755,MONDO:0020009 subclass +MONDO:0020022 central nervous system malformation MONDO MONDO:0002320,MONDO:0019755,MONDO:0020009 subclass MONDO:0020022 central nervous system malformation Orphanet Orphanet:98044 one_to_one MONDO:0020023 respiratory or mediastinal malformation MONDO MONDO:0019755 subclass MONDO:0020023 respiratory or mediastinal malformation Orphanet Orphanet:98045 one_to_one @@ -114143,7 +114340,7 @@ MONDO:0020118 dense granule disease Orphanet Orphanet:98456 one_to_one MONDO:0020118 dense granule disease UMLS UMLS:CN207010 one_to_one MONDO:0020119 X-linked syndromic intellectual disability DOID DOID:0060309 one_to_one MONDO:0020119 X-linked syndromic intellectual disability HP HP:0001417 has_modifier -MONDO:0020119 X-linked syndromic intellectual disability MONDO MONDO:0000425,MONDO:0000508,MONDO:0015983 subclass +MONDO:0020119 X-linked syndromic intellectual disability MONDO MONDO:0000425,MONDO:0000508,MONDO:0002320,MONDO:0015983 subclass MONDO:0020119 X-linked syndromic intellectual disability OMIMPS OMIMPS:309510 one_to_one MONDO:0020119 X-linked syndromic intellectual disability Orphanet Orphanet:98464 one_to_one MONDO:0020120 skeletal muscle disease MONDO MONDO:0000001,MONDO:0003939,MONDO:0019056 subclass @@ -114259,7 +114456,7 @@ MONDO:0020142 metabolic disease with dementia UMLS UMLS:CN207023 one_to_one MONDO:0020143 cerebral lipidosis with dementia COHD COHD:374906 one_to_one MONDO:0020143 cerebral lipidosis with dementia DOID DOID:10742 one_to_one MONDO:0020143 cerebral lipidosis with dementia ICD9 ICD9:330.1 one_to_one -MONDO:0020143 cerebral lipidosis with dementia MONDO MONDO:0005560,MONDO:0015123,MONDO:0019245,MONDO:0020142 subclass +MONDO:0020143 cerebral lipidosis with dementia MONDO MONDO:0002320,MONDO:0005560,MONDO:0015123,MONDO:0019245,MONDO:0020142 subclass MONDO:0020143 cerebral lipidosis with dementia Orphanet Orphanet:98544 one_to_one MONDO:0020143 cerebral lipidosis with dementia SCTID SCTID:16517004 one_to_one MONDO:0020143 cerebral lipidosis with dementia UMLS UMLS:C0007788 one_to_one @@ -114267,7 +114464,7 @@ MONDO:0020144 cerebrovascular dementia MONDO MONDO:0019515 subclass MONDO:0020144 cerebrovascular dementia Orphanet Orphanet:98549 one_to_one MONDO:0020144 cerebrovascular dementia UBERON UBERON:0008998 disease_has_basis_in_dysfunction_of MONDO:0020145 developmental defect of the eye GO GO:0043010 disease_disrupts -MONDO:0020145 developmental defect of the eye MONDO MONDO:0015107,MONDO:0015960,MONDO:0019755 subclass +MONDO:0020145 developmental defect of the eye MONDO MONDO:0002320,MONDO:0015107,MONDO:0015960,MONDO:0019755 subclass MONDO:0020145 developmental defect of the eye Orphanet Orphanet:98553 one_to_one MONDO:0020146 major induction processes eye anomaly GO GO:0060235 disease_has_basis_in_disruption_of MONDO:0020146 major induction processes eye anomaly MONDO MONDO:0015960,MONDO:0020145 subclass @@ -114426,7 +114623,7 @@ MONDO:0020195 excretory apparatus of the lacrimal system anomaly MONDO MONDO:002 MONDO:0020195 excretory apparatus of the lacrimal system anomaly Orphanet Orphanet:98605 one_to_one MONDO:0020196 anomaly of the secretory and excretory apparatus of the lacrimal system MONDO MONDO:0020192 subclass MONDO:0020196 anomaly of the secretory and excretory apparatus of the lacrimal system Orphanet Orphanet:98608 one_to_one -MONDO:0020197 EEC syndrome and related syndrome MONDO MONDO:0019287,MONDO:0020196 subclass +MONDO:0020197 EEC syndrome and related syndrome MONDO MONDO:0002320,MONDO:0019287,MONDO:0020196 subclass MONDO:0020197 EEC syndrome and related syndrome Orphanet Orphanet:98609 one_to_one MONDO:0020197 EEC syndrome and related syndrome UMLS UMLS:CN207046 one_to_one MONDO:0020198 rare conjunctival disease MONDO MONDO:0021136 has_modifier @@ -114528,7 +114725,7 @@ MONDO:0020225 syndromic cataract MONDO MONDO:0002254,MONDO:0005129,MONDO:0020224 MONDO:0020225 syndromic cataract Orphanet Orphanet:98641 one_to_one MONDO:0020225 syndromic cataract UMLS UMLS:CN227829 one_to_one MONDO:0020226 chromosomal anomaly with cataract MONDO MONDO:0005129 disease_has_major_feature -MONDO:0020226 chromosomal anomaly with cataract MONDO MONDO:0019040,MONDO:0020225 subclass +MONDO:0020226 chromosomal anomaly with cataract MONDO MONDO:0002320,MONDO:0019040,MONDO:0020225 subclass MONDO:0020226 chromosomal anomaly with cataract Orphanet Orphanet:98642 one_to_one MONDO:0020227 systemic disease with cataract MONDO MONDO:0005129 disease_has_feature MONDO:0020227 systemic disease with cataract MONDO MONDO:0015938,MONDO:0020225 subclass @@ -114562,9 +114759,11 @@ MONDO:0020236 lens position anomaly MONDO MONDO:0020223 subclass MONDO:0020236 lens position anomaly Orphanet Orphanet:98653 one_to_one MONDO:0020237 lens shape anomaly MONDO MONDO:0020223 subclass MONDO:0020237 lens shape anomaly Orphanet Orphanet:98655 one_to_one -MONDO:0020238 genetic vitreous-retinal disease MONDO MONDO:0015107 subclass -MONDO:0020238 genetic vitreous-retinal disease Orphanet Orphanet:98657 one_to_one -MONDO:0020238 genetic vitreous-retinal disease UMLS UMLS:CN207063 one_to_one +MONDO:0020238 inherited vitreous-retinal disease MONDO MONDO:0021152 has_modifier +MONDO:0020238 inherited vitreous-retinal disease MONDO MONDO:0000001,MONDO:0002320,MONDO:0003847,MONDO:0005283,MONDO:0015107,MONDO:0044137 subclass +MONDO:0020238 inherited vitreous-retinal disease Orphanet Orphanet:98657 one_to_one +MONDO:0020238 inherited vitreous-retinal disease UBERON UBERON:0000966,UBERON:0001798 disease_has_location +MONDO:0020238 inherited vitreous-retinal disease UMLS UMLS:CN207063 one_to_one MONDO:0020240 syndromic retinitis pigmentosa MONDO MONDO:0021127 has_modifier MONDO:0020240 syndromic retinitis pigmentosa MONDO MONDO:0002254,MONDO:0019200 subclass MONDO:0020240 syndromic retinitis pigmentosa Orphanet Orphanet:98661 one_to_one @@ -114596,7 +114795,7 @@ MONDO:0020247 congenital vitreoretinal dysplasia Orphanet Orphanet:98669 one_to_ MONDO:0020247 congenital vitreoretinal dysplasia SCTID SCTID:449866003 one_to_one MONDO:0020248 vitreoretinal degeneration GARD GARD:0005506 one_to_one MONDO:0020248 vitreoretinal degeneration ICD10 ICD10:H35.5 inexact -MONDO:0020248 vitreoretinal degeneration MONDO MONDO:0001377,MONDO:0015952,MONDO:0020246 subclass +MONDO:0020248 vitreoretinal degeneration MONDO MONDO:0001377,MONDO:0020246,MONDO:0024237 subclass MONDO:0020248 vitreoretinal degeneration Orphanet Orphanet:98670 one_to_one MONDO:0020248 vitreoretinal degeneration SCTID SCTID:247182006 one_to_one MONDO:0020248 vitreoretinal degeneration UMLS UMLS:C0344290 one_to_one @@ -114674,7 +114873,7 @@ MONDO:0020274 onycho-patellar syndrome with eye involvement MONDO MONDO:0020266 MONDO:0020274 onycho-patellar syndrome with eye involvement Orphanet Orphanet:98704 one_to_one MONDO:0020274 onycho-patellar syndrome with eye involvement UMLS UMLS:CN207079 one_to_one MONDO:0020275 oculocutaneous or ocular albinism ICD10 ICD10:E70.3 inexact -MONDO:0020275 oculocutaneous or ocular albinism MONDO MONDO:0020270,MONDO:0043209 subclass +MONDO:0020275 oculocutaneous or ocular albinism MONDO MONDO:0002320,MONDO:0020270,MONDO:0043209 subclass MONDO:0020275 oculocutaneous or ocular albinism Orphanet Orphanet:98706 one_to_one MONDO:0020276 pigmentation disorder with eye involvement, excluding albinism MONDO MONDO:0020270 subclass MONDO:0020276 pigmentation disorder with eye involvement, excluding albinism Orphanet Orphanet:98708 one_to_one @@ -115007,7 +115206,7 @@ MONDO:0020340 bilateral perisylvian polymicrogyria Orphanet Orphanet:98889 one_t MONDO:0020341 periventricular nodular heterotopia DOID DOID:0050454 one_to_one MONDO:0020341 periventricular nodular heterotopia ICD10 ICD10:Q04.8 inexact MONDO:0020341 periventricular nodular heterotopia MESH MESH:D054091 one_to_one -MONDO:0020341 periventricular nodular heterotopia MONDO MONDO:0002320,MONDO:0016292 subclass +MONDO:0020341 periventricular nodular heterotopia MONDO MONDO:0016292 subclass MONDO:0020341 periventricular nodular heterotopia MedDRA MedDRA:10066854 one_to_one MONDO:0020341 periventricular nodular heterotopia Orphanet Orphanet:98892 one_to_one MONDO:0020341 periventricular nodular heterotopia UMLS UMLS:C1868720 one_to_one @@ -115561,7 +115760,7 @@ MONDO:0020468 paternal uniparental disomy of chromosome 13 MONDO MONDO:0020057 s MONDO:0020468 paternal uniparental disomy of chromosome 13 Orphanet Orphanet:99324 one_to_one MONDO:0020469 48,XYYY syndrome GARD GARD:0011985 one_to_one MONDO:0020469 48,XYYY syndrome ICD10 ICD10:Q98.8 inexact -MONDO:0020469 48,XYYY syndrome MONDO MONDO:0015620,MONDO:0015983,MONDO:0017005,MONDO:0020090 subclass +MONDO:0020469 48,XYYY syndrome MONDO MONDO:0002320,MONDO:0015620,MONDO:0015983,MONDO:0017005,MONDO:0020090 subclass MONDO:0020469 48,XYYY syndrome Orphanet Orphanet:99329 one_to_one MONDO:0020469 48,XYYY syndrome UMLS UMLS:C4518082,UMLS:CN207331 inexact MONDO:0020470 49,XYYYY syndrome ICD10 ICD10:Q98.8 inexact @@ -115590,7 +115789,7 @@ MONDO:0020477 progeria-associated arthropathy MONDO MONDO:0008310 disease_has_fe MONDO:0020477 progeria-associated arthropathy MONDO MONDO:0015940,MONDO:0017133,MONDO:0021198 subclass MONDO:0020477 progeria-associated arthropathy Orphanet Orphanet:99706 one_to_one MONDO:0020478 Leber plus disease ICD10 ICD10:H47.2 inexact -MONDO:0020478 Leber plus disease MONDO MONDO:0016327,MONDO:0016335,MONDO:0016793,MONDO:0020249,MONDO:0020265 subclass +MONDO:0020478 Leber plus disease MONDO MONDO:0002320,MONDO:0016327,MONDO:0016335,MONDO:0016793,MONDO:0020249,MONDO:0020265 subclass MONDO:0020478 Leber plus disease Orphanet Orphanet:99718 one_to_one MONDO:0020478 Leber plus disease SCTID SCTID:719430008 one_to_one MONDO:0020478 Leber plus disease UMLS UMLS:C4304725,UMLS:CN207347 inexact @@ -115658,7 +115857,7 @@ MONDO:0020490 mosaic trisomy 9 UMLS UMLS:CN035918 one_to_one MONDO:0020491 subcortical band heterotopia DOID DOID:0111169 one_to_one MONDO:0020491 subcortical band heterotopia GARD GARD:0001904,GARD:0002250 inexact MONDO:0020491 subcortical band heterotopia ICD10 ICD10:Q04.3 inexact -MONDO:0020491 subcortical band heterotopia MONDO MONDO:0002254,MONDO:0002320,MONDO:0015572 subclass +MONDO:0020491 subcortical band heterotopia MONDO MONDO:0002254,MONDO:0015572 subclass MONDO:0020491 subcortical band heterotopia NCIT NCIT:C116933 one_to_one MONDO:0020491 subcortical band heterotopia Orphanet Orphanet:99796 one_to_one MONDO:0020491 subcortical band heterotopia UMLS UMLS:C1848201,UMLS:C4284594 inexact @@ -115675,7 +115874,7 @@ MONDO:0020493 Haddad syndrome MONDO MONDO:0008852,MONDO:0015184 subclass MONDO:0020493 Haddad syndrome Orphanet Orphanet:99803 one_to_one MONDO:0020493 Haddad syndrome SCTID SCTID:719972004 one_to_one MONDO:0020494 oculootodental syndrome ICD10 ICD10:K00.2 inexact -MONDO:0020494 oculootodental syndrome MONDO MONDO:0008161 subclass +MONDO:0020494 oculootodental syndrome MONDO MONDO:0015336,MONDO:0016910 subclass MONDO:0020494 oculootodental syndrome Orphanet Orphanet:99806 one_to_one MONDO:0020494 oculootodental syndrome UMLS UMLS:C2750325 one_to_one MONDO:0020495 peho-like syndrome MONDO MONDO:0009841 subclass @@ -115686,7 +115885,7 @@ MONDO:0020496 familial porencephaly MONDO MONDO:0021152 has_modifier MONDO:0020496 familial porencephaly MONDO MONDO:0003847,MONDO:0017410,MONDO:0018790 subclass MONDO:0020496 familial porencephaly Orphanet Orphanet:99810 one_to_one MONDO:0020497 Turcot syndrome with polyposis ICD10 ICD10:D12.6 inexact -MONDO:0020497 Turcot syndrome with polyposis MONDO MONDO:0016756,MONDO:0019117,MONDO:0020036,MONDO:0021055 subclass +MONDO:0020497 Turcot syndrome with polyposis MONDO MONDO:0002320,MONDO:0016756,MONDO:0019117,MONDO:0020036,MONDO:0021055 subclass MONDO:0020497 Turcot syndrome with polyposis Orphanet Orphanet:99818 one_to_one MONDO:0020497 Turcot syndrome with polyposis UMLS UMLS:CN207386 one_to_one MONDO:0020499 Nipah virus disease ICD10 ICD10:A98.8 one_to_one @@ -115736,7 +115935,7 @@ MONDO:0020503 resistance to thyrotropin-releasing hormone syndrome MONDO MONDO:0 MONDO:0020503 resistance to thyrotropin-releasing hormone syndrome Orphanet Orphanet:99832 one_to_one MONDO:0020503 resistance to thyrotropin-releasing hormone syndrome UMLS UMLS:CN207394 one_to_one MONDO:0020504 genetic recurrent myoglobinuria ICD10 ICD10:R82.1 inexact -MONDO:0020504 genetic recurrent myoglobinuria MONDO MONDO:0015123,MONDO:0016117,MONDO:0018120,MONDO:0019602 subclass +MONDO:0020504 genetic recurrent myoglobinuria MONDO MONDO:0002320,MONDO:0015123,MONDO:0016117,MONDO:0018120,MONDO:0019602 subclass MONDO:0020504 genetic recurrent myoglobinuria Orphanet Orphanet:99845 one_to_one MONDO:0020504 genetic recurrent myoglobinuria SCTID SCTID:716721003 one_to_one MONDO:0020505 ravine syndrome ICD10 ICD10:E75.2 inexact @@ -115771,10 +115970,11 @@ MONDO:0020511 precursor B-cell acute lymphoblastic leukemia Orphanet Orphanet:99 MONDO:0020512 precursor T-cell acute lymphoblastic leukemia ICD10 ICD10:C91.0 inexact MONDO:0020512 precursor T-cell acute lymphoblastic leukemia MONDO MONDO:0004967 subclass MONDO:0020512 precursor T-cell acute lymphoblastic leukemia Orphanet Orphanet:99861 one_to_one -MONDO:0020513 spermatocytic seminoma DOID DOID:7891 one_to_one +MONDO:0020513 spermatocytic seminoma DOID DOID:5834,DOID:7891 inexact MONDO:0020513 spermatocytic seminoma ICD10 ICD10:C62.9 inexact MONDO:0020513 spermatocytic seminoma ICDO ICDO:9063/3 one_to_one -MONDO:0020513 spermatocytic seminoma MONDO MONDO:0003667,MONDO:0003669 subclass +MONDO:0020513 spermatocytic seminoma MONDO MONDO:0003667 excluded_subClassOf +MONDO:0020513 spermatocytic seminoma MONDO MONDO:0003669 subclass MONDO:0020513 spermatocytic seminoma NCIT NCIT:C39921 one_to_one MONDO:0020513 spermatocytic seminoma Orphanet Orphanet:99865 one_to_one MONDO:0020513 spermatocytic seminoma UMLS UMLS:C0334517 one_to_one @@ -115854,15 +116054,21 @@ MONDO:0020527 ectopic Cushing syndrome ICD10 ICD10:E24.3 inexact MONDO:0020527 ectopic Cushing syndrome MONDO MONDO:0020528 subclass MONDO:0020527 ectopic Cushing syndrome Orphanet Orphanet:99889 one_to_one MONDO:0020527 ectopic Cushing syndrome UMLS UMLS:CN207427 one_to_one +MONDO:0020528 ACTH-dependent Cushing syndrome DOID DOID:3946 one_to_one +MONDO:0020528 ACTH-dependent Cushing syndrome EFO EFO:1001110 one_to_one +MONDO:0020528 ACTH-dependent Cushing syndrome GO GO:0051458 disease_has_basis_in_disruption_of MONDO:0020528 ACTH-dependent Cushing syndrome HP HP:0011043 disease_has_feature MONDO:0020528 ACTH-dependent Cushing syndrome ICD10 ICD10:E24.0 inexact +MONDO:0020528 ACTH-dependent Cushing syndrome MESH MESH:D047748 one_to_one MONDO:0020528 ACTH-dependent Cushing syndrome MONDO MONDO:0018387,MONDO:0018400 excluded_subClassOf -MONDO:0020528 ACTH-dependent Cushing syndrome MONDO MONDO:0018912 subclass +MONDO:0020528 ACTH-dependent Cushing syndrome MONDO MONDO:0006793,MONDO:0018912,MONDO:0020009 subclass +MONDO:0020528 ACTH-dependent Cushing syndrome MedDRA MedDRA:10035109 inexact MONDO:0020528 ACTH-dependent Cushing syndrome Orphanet Orphanet:99892 one_to_one -MONDO:0020528 ACTH-dependent Cushing syndrome SCTID SCTID:237734007 one_to_one +MONDO:0020528 ACTH-dependent Cushing syndrome SCTID SCTID:190502001,SCTID:237734007 inexact MONDO:0020528 ACTH-dependent Cushing syndrome UMLS UMLS:C0342442 one_to_one MONDO:0020529 ACTH-independent Cushing syndrome ICD10 ICD10:E24.8 inexact -MONDO:0020529 ACTH-independent Cushing syndrome MONDO MONDO:0018387,MONDO:0018400,MONDO:0018912 subclass +MONDO:0020529 ACTH-independent Cushing syndrome MONDO MONDO:0018387,MONDO:0018400 excluded_subClassOf +MONDO:0020529 ACTH-independent Cushing syndrome MONDO MONDO:0018912 subclass MONDO:0020529 ACTH-independent Cushing syndrome Orphanet Orphanet:99893 one_to_one MONDO:0020529 ACTH-independent Cushing syndrome UMLS UMLS:CN207429 one_to_one MONDO:0020530 mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency GARD GARD:0003011 one_to_one @@ -116138,27 +116344,30 @@ MONDO:0021001 hemochromatosis type 1 Orphanet Orphanet:465508 one_to_one MONDO:0021001 hemochromatosis type 1 http http://identifiers.org/hgnc/1069,http://identifiers.org/hgnc/4886 disease_has_basis_in_dysfunction_of MONDO:0021002 syndactyly (disease) DOID DOID:11193 one_to_one MONDO:0021002 syndactyly (disease) HP HP:0001159 disease_has_feature +MONDO:0021002 syndactyly (disease) HP HP:0001159 disease_has_major_feature MONDO:0021002 syndactyly (disease) HP HP:0001159 one_to_one MONDO:0021002 syndactyly (disease) ICD10 ICD10:Q70,ICD10:Q70.0,ICD10:Q70.1,ICD10:Q70.2,ICD10:Q70.3,ICD10:Q70.4,ICD10:Q70.9 inexact MONDO:0021002 syndactyly (disease) ICD9 ICD9:755.1 one_to_one -MONDO:0021002 syndactyly (disease) MONDO MONDO:0005172 subclass +MONDO:0021002 syndactyly (disease) MONDO MONDO:0018454,MONDO:0018455 subclass MONDO:0021002 syndactyly (disease) MedDRA MedDRA:10042778 inexact MONDO:0021003 polydactyly (disease) COHD COHD:74740 one_to_one MONDO:0021003 polydactyly (disease) DOID DOID:1148 one_to_one MONDO:0021003 polydactyly (disease) HP HP:0010442 disease_has_feature +MONDO:0021003 polydactyly (disease) HP HP:0010442 disease_has_major_feature MONDO:0021003 polydactyly (disease) HP HP:0010442 one_to_one MONDO:0021003 polydactyly (disease) ICD10 ICD10:Q69,ICD10:Q69.0,ICD10:Q69.1,ICD10:Q69.2,ICD10:Q69.9 inexact MONDO:0021003 polydactyly (disease) ICD9 ICD9:755.0,ICD9:755.00 inexact -MONDO:0021003 polydactyly (disease) MONDO MONDO:0000839,MONDO:0005172 subclass +MONDO:0021003 polydactyly (disease) MONDO MONDO:0018454,MONDO:0018455 subclass MONDO:0021003 polydactyly (disease) MedDRA MedDRA:10036063 inexact MONDO:0021003 polydactyly (disease) NCIT NCIT:C87110 one_to_one MONDO:0021003 polydactyly (disease) OMIM OMIM:603596 one_to_one MONDO:0021003 polydactyly (disease) SCTID SCTID:367506006 one_to_one MONDO:0021004 brachydactyly (disease) DOID DOID:0050581 one_to_one MONDO:0021004 brachydactyly (disease) HP HP:0001156 disease_has_feature +MONDO:0021004 brachydactyly (disease) HP HP:0001156 disease_has_major_feature MONDO:0021004 brachydactyly (disease) HP HP:0001156 one_to_one MONDO:0021004 brachydactyly (disease) MESH MESH:D059327 one_to_one -MONDO:0021004 brachydactyly (disease) MONDO MONDO:0005172 subclass +MONDO:0021004 brachydactyly (disease) MONDO MONDO:0018454,MONDO:0018455 subclass MONDO:0021005 faciodigitogenital syndrome ICD10 ICD10:Q87.1 inexact MONDO:0021005 faciodigitogenital syndrome MONDO MONDO:0015329,MONDO:0015620 subclass MONDO:0021005 faciodigitogenital syndrome MedDRA MedDRA:10067148 inexact @@ -116392,7 +116601,7 @@ MONDO:0021061 neurofibromatosis ICD10 ICD10:Q85.00,ICD10:Q85.01,ICD10:Q85.02 ine MONDO:0021061 neurofibromatosis ICD9 ICD9:237.7,ICD9:237.70,ICD9:237.71,ICD9:237.72 inexact MONDO:0021061 neurofibromatosis ICDO ICDO:9540/1 one_to_one MONDO:0021061 neurofibromatosis MESH MESH:D017253 one_to_one -MONDO:0021061 neurofibromatosis MONDO MONDO:0000426,MONDO:0015356,MONDO:0016756,MONDO:0019117,MONDO:0042983 subclass +MONDO:0021061 neurofibromatosis MONDO MONDO:0000426,MONDO:0002320,MONDO:0015356,MONDO:0016756,MONDO:0019117,MONDO:0042983 subclass MONDO:0021061 neurofibromatosis NCIT NCIT:C6727 one_to_one MONDO:0021061 neurofibromatosis SCTID SCTID:19133005 one_to_one MONDO:0021061 neurofibromatosis UMLS UMLS:C0162678 one_to_one @@ -116542,7 +116751,7 @@ MONDO:0021090 lipid-rich breast carcinoma UBERON UBERON:0000310 disease_has_loca MONDO:0021090 lipid-rich breast carcinoma UMLS UMLS:C1517894 one_to_one MONDO:0021091 papillary cystadenoma ICDO ICDO:8450/0 one_to_one MONDO:0021091 papillary cystadenoma MESH MESH:D018292 one_to_one -MONDO:0021091 papillary cystadenoma MONDO MONDO:0002369,MONDO:0002533,MONDO:0006349,MONDO:0021078 subclass +MONDO:0021091 papillary cystadenoma MONDO MONDO:0002369,MONDO:0002533,MONDO:0006349 subclass MONDO:0021091 papillary cystadenoma NCIT NCIT:C2974 one_to_one MONDO:0021091 papillary cystadenoma UMLS UMLS:C0010636 one_to_one MONDO:0021092 fallopian tube neoplasm ICD9 ICD9:239.5 inexact @@ -116564,11 +116773,12 @@ MONDO:0021095 parkinsonian disorder MONDO MONDO:0003996 subclass MONDO:0021096 papillary epithelial neoplasm MONDO MONDO:0005626 subclass MONDO:0021096 papillary epithelial neoplasm NCIT NCIT:C8429 one_to_one MONDO:0021096 papillary epithelial neoplasm UMLS UMLS:C1335324 one_to_one +MONDO:0021097 intraductal breast papilloma DOID DOID:1626 one_to_one MONDO:0021097 intraductal breast papilloma EFO EFO:1000306 one_to_one MONDO:0021097 intraductal breast papilloma MONDO MONDO:0000620,MONDO:0000652,MONDO:0002060,MONDO:0002061,MONDO:0002363 subclass MONDO:0021097 intraductal breast papilloma NCIT NCIT:C35161 has_finding MONDO:0021097 intraductal breast papilloma NCIT NCIT:C3863 one_to_one -MONDO:0021097 intraductal breast papilloma SCTID SCTID:99571000119102 one_to_one +MONDO:0021097 intraductal breast papilloma SCTID SCTID:254848002,SCTID:99571000119102 inexact MONDO:0021097 intraductal breast papilloma UBERON UBERON:0001765 disease_has_location MONDO:0021098 papillomatosis MONDO MONDO:0021096 subclass MONDO:0021098 papillomatosis NCIT NCIT:C47826 has_finding @@ -116601,9 +116811,10 @@ MONDO:0021102 prostate phyllodes tumor Orphanet Orphanet:498228 one_to_one MONDO:0021102 prostate phyllodes tumor UBERON UBERON:0002367 disease_has_location MONDO:0021102 prostate phyllodes tumor UMLS UMLS:C1335409 one_to_one MONDO:0021104 alcoholic fatty liver disease COHD COHD:193256 one_to_one +MONDO:0021104 alcoholic fatty liver disease ECTO ECTO:0001082 realized_in_response_to MONDO:0021104 alcoholic fatty liver disease ICD9 ICD9:571.0 inexact MONDO:0021104 alcoholic fatty liver disease MESH MESH:D005235 one_to_one -MONDO:0021104 alcoholic fatty liver disease MONDO MONDO:0004790 subclass +MONDO:0021104 alcoholic fatty liver disease MONDO MONDO:0004790,MONDO:0043693 subclass MONDO:0021104 alcoholic fatty liver disease SCTID SCTID:50325005 one_to_one MONDO:0021104 alcoholic fatty liver disease UMLS UMLS:C0015696,UMLS:C2718067 inexact MONDO:0021105 NAFLD1 MONDO MONDO:0013209 subclass @@ -116657,7 +116868,7 @@ MONDO:0021113 respiratory failure MONDO MONDO:0005275 subclass MONDO:0021113 respiratory failure NCIT NCIT:C26872 one_to_one MONDO:0021113 respiratory failure SCTID SCTID:39871006 one_to_one MONDO:0021113 respiratory failure UMLS UMLS:C1145670 one_to_one -MONDO:0021114 Bartholin gland neoplasm MONDO MONDO:0002051,MONDO:0005070,MONDO:0021049,MONDO:0045027 subclass +MONDO:0021114 Bartholin gland neoplasm MONDO MONDO:0002051,MONDO:0005070,MONDO:0021049 subclass MONDO:0021114 Bartholin gland neoplasm NCIT NCIT:C6434 one_to_one MONDO:0021114 Bartholin gland neoplasm UBERON UBERON:0000460 disease_has_location MONDO:0021115 luminal B breast carcinoma MONDO MONDO:0004990 subclass @@ -116677,12 +116888,16 @@ MONDO:0021118 intestinal neoplasm NCIT NCIT:C3141 one_to_one MONDO:0021118 intestinal neoplasm ONCOTREE ONCOTREE:BOWEL one_to_one MONDO:0021118 intestinal neoplasm SCTID SCTID:126769007 one_to_one MONDO:0021118 intestinal neoplasm UBERON UBERON:0000160 disease_has_location +MONDO:0021119 non-functioning endocrine neoplasm GO GO:0046879 realized_in MONDO:0021119 non-functioning endocrine neoplasm MONDO MONDO:0002082 subclass +MONDO:0021119 non-functioning endocrine neoplasm NCIT NCIT:C45980 disease_has_feature MONDO:0021119 non-functioning endocrine neoplasm NCIT NCIT:C45980 has_finding MONDO:0021119 non-functioning endocrine neoplasm NCIT NCIT:C94760 one_to_one MONDO:0021119 non-functioning endocrine neoplasm UMLS UMLS:C2986656 one_to_one +MONDO:0021120 functioning endocrine neoplasm GO GO:0046879 realized_in MONDO:0021120 functioning endocrine neoplasm ICDO ICDO:8158/1 inexact MONDO:0021120 functioning endocrine neoplasm MONDO MONDO:0002082 subclass +MONDO:0021120 functioning endocrine neoplasm NCIT NCIT:C45981 disease_has_feature MONDO:0021120 functioning endocrine neoplasm NCIT NCIT:C45981 has_finding MONDO:0021120 functioning endocrine neoplasm NCIT NCIT:C94759 one_to_one MONDO:0021120 functioning endocrine neoplasm UMLS UMLS:C2986655 one_to_one @@ -116791,10 +117006,10 @@ MONDO:0021150 genetic MONDO MONDO:0021149 subclass MONDO:0021151 non-genetic MONDO MONDO:0021149 subclass MONDO:0021152 genetic and inherited MONDO MONDO:0021140,MONDO:0021150 subclass MONDO:0021153 genetic and acquired MONDO MONDO:0021141,MONDO:0021150 subclass -MONDO:0021154 dermis disease MONDO MONDO:0000001,MONDO:0002051,MONDO:0045027 subclass +MONDO:0021154 dermis disease MONDO MONDO:0000001,MONDO:0002051 subclass MONDO:0021154 dermis disease UBERON UBERON:0002067 disease_has_location MONDO:0021155 X-linked cone-rod dystrophy HP HP:0001417 has_modifier -MONDO:0021155 X-linked cone-rod dystrophy MONDO MONDO:0000425,MONDO:0004589,MONDO:0015993 subclass +MONDO:0021155 X-linked cone-rod dystrophy MONDO MONDO:0000425,MONDO:0015993 subclass MONDO:0021156 hypophysitis MESH MESH:D000072659 one_to_one MONDO:0021156 hypophysitis MONDO MONDO:0000001,MONDO:0003381,MONDO:0015144,MONDO:0020005 subclass MONDO:0021156 hypophysitis NCIT NCIT:C12399 one_to_one @@ -117542,7 +117757,7 @@ MONDO:0021388 neoplasm of chest wall UBERON UBERON:0016435 disease_has_location MONDO:0021388 neoplasm of chest wall UMLS UMLS:C1290309 one_to_one MONDO:0021389 neoplasm of aortic body ICD9 ICD9:239.7 inexact MONDO:0021389 neoplasm of aortic body ICDO ICDO:8691/1 one_to_one -MONDO:0021389 neoplasm of aortic body MONDO MONDO:0000473,MONDO:0002051,MONDO:0005042,MONDO:0005070,MONDO:0006239,MONDO:0015078,MONDO:0016228,MONDO:0020000,MONDO:0021052,MONDO:0021080,MONDO:0021246,MONDO:0043218,MONDO:0045027 subclass +MONDO:0021389 neoplasm of aortic body MONDO MONDO:0000473,MONDO:0002051,MONDO:0005042,MONDO:0005070,MONDO:0006239,MONDO:0015078,MONDO:0016228,MONDO:0020000,MONDO:0021052,MONDO:0021080,MONDO:0021246,MONDO:0043218 subclass MONDO:0021389 neoplasm of aortic body NCIT NCIT:C4218 one_to_one MONDO:0021389 neoplasm of aortic body SCTID SCTID:127029006 one_to_one MONDO:0021389 neoplasm of aortic body UBERON UBERON:0034971 disease_has_location @@ -118158,7 +118373,7 @@ MONDO:0021531 fibroma of lung SCTID SCTID:707387004 one_to_one MONDO:0021531 fibroma of lung UBERON UBERON:0002048 disease_has_location MONDO:0021531 fibroma of lung UMLS UMLS:C1334444 one_to_one MONDO:0021532 fibroma of prostate ICD9 ICD9:600.20 inexact -MONDO:0021532 fibroma of prostate MONDO MONDO:0000636,MONDO:0005167,MONDO:0021510 subclass +MONDO:0021532 fibroma of prostate MONDO MONDO:0005167,MONDO:0021510 subclass MONDO:0021532 fibroma of prostate NCIT NCIT:C3972 one_to_one MONDO:0021532 fibroma of prostate SCTID SCTID:47014000 one_to_one MONDO:0021532 fibroma of prostate UBERON UBERON:0002367 disease_has_location @@ -118304,7 +118519,7 @@ MONDO:0021605 benign eyelid neoplasm NCIT NCIT:C4354 one_to_one MONDO:0021605 benign eyelid neoplasm SCTID SCTID:231824001 one_to_one MONDO:0021605 benign eyelid neoplasm UBERON UBERON:0001711 disease_has_location MONDO:0021605 benign eyelid neoplasm UMLS UMLS:C0339107 one_to_one -MONDO:0021607 eyelid seborrheic keratosis MONDO MONDO:0008420,MONDO:0015960,MONDO:0019043,MONDO:0020151 subclass +MONDO:0021607 eyelid seborrheic keratosis MONDO MONDO:0002320,MONDO:0008420,MONDO:0015960,MONDO:0019043,MONDO:0020151 subclass MONDO:0021607 eyelid seborrheic keratosis NCIT NCIT:C4356 one_to_one MONDO:0021607 eyelid seborrheic keratosis SCTID SCTID:231826004 one_to_one MONDO:0021607 eyelid seborrheic keratosis UBERON UBERON:0001711 disease_has_location @@ -118314,7 +118529,7 @@ MONDO:0021627 eyelid capillary hemangioma NCIT NCIT:C4357 one_to_one MONDO:0021627 eyelid capillary hemangioma SCTID SCTID:231828003 one_to_one MONDO:0021627 eyelid capillary hemangioma UBERON UBERON:0001711 disease_has_location MONDO:0021627 eyelid capillary hemangioma UMLS UMLS:C0339110 one_to_one -MONDO:0021629 uterine ligament neoplasm MONDO MONDO:0005070,MONDO:0021230 subclass +MONDO:0021629 uterine ligament neoplasm MONDO MONDO:0005070,MONDO:0021230,MONDO:0045044 subclass MONDO:0021629 uterine ligament neoplasm NCIT NCIT:C40133 one_to_one MONDO:0021629 uterine ligament neoplasm UBERON UBERON:0036262 disease_has_location MONDO:0021629 uterine ligament neoplasm UMLS UMLS:C1519870 one_to_one @@ -118396,7 +118611,7 @@ MONDO:0021650 uterine corpus neuroendocrine neoplasm UMLS UMLS:C4288048 one_to_o MONDO:0021651 synpolydactyly HP HP:0001159,HP:0010442 disease_has_major_feature MONDO:0021651 synpolydactyly MESH MESH:C538153 one_to_one MONDO:0021651 synpolydactyly MONDO MONDO:0002254 excluded_subClassOf -MONDO:0021651 synpolydactyly MONDO MONDO:0018454,MONDO:0018455 subclass +MONDO:0021651 synpolydactyly MONDO MONDO:0018454,MONDO:0021002,MONDO:0021003 subclass MONDO:0021651 synpolydactyly NCIT NCIT:C75003 one_to_one MONDO:0021652 diffuse type adenocarcinoma ICDO ICDO:8145/3 one_to_one MONDO:0021652 diffuse type adenocarcinoma MONDO MONDO:0004970 subclass @@ -118449,7 +118664,7 @@ MONDO:0021663 sarcomatoid squamous cell carcinoma MONDO MONDO:0005096,MONDO:0006 MONDO:0021663 sarcomatoid squamous cell carcinoma NCIT NCIT:C27084 one_to_one MONDO:0021663 sarcomatoid squamous cell carcinoma SCTID SCTID:403900000 one_to_one MONDO:0021664 cervical aortic arch ICD10 ICD10:Q25.4 inexact -MONDO:0021664 cervical aortic arch MONDO MONDO:0000473,MONDO:0002051,MONDO:0004335,MONDO:0005042,MONDO:0015236,MONDO:0045027 subclass +MONDO:0021664 cervical aortic arch MONDO MONDO:0000473,MONDO:0002051,MONDO:0004335,MONDO:0005042,MONDO:0015236 subclass MONDO:0021664 cervical aortic arch Orphanet Orphanet:99079 one_to_one MONDO:0021664 cervical aortic arch UBERON UBERON:0004363 disease_has_location MONDO:0021666 ear infection MESH MESH:D010031 one_to_one @@ -118520,13 +118735,14 @@ MONDO:0021683 transmissible disease NCIT NCIT:C17214 realized_in MONDO:0021697 chlamydia infectious disease MESH MESH:D002690 one_to_one MONDO:0021697 chlamydia infectious disease MONDO MONDO:0000001,MONDO:0005323 subclass MONDO:0021697 chlamydia infectious disease NCBITaxon NCBITaxon:810 realized_in_response_to_stimulus +MONDO:0021698 alcohol-related disorders ECTO ECTO:0001082 realized_in_response_to MONDO:0021698 alcohol-related disorders MESH MESH:D019973 one_to_one MONDO:0021698 alcohol-related disorders MONDO MONDO:0002494 subclass -MONDO:0021698 alcohol-related disorders SCTID SCTID:29212009 one_to_one MONDO:0021699 alcohol-induced disorders MESH MESH:D020751 one_to_one MONDO:0021699 alcohol-induced disorders MONDO MONDO:0021698 subclass MONDO:0021699 alcohol-induced disorders SCTID SCTID:719848005 one_to_one MONDO:0021699 alcohol-induced disorders UMLS UMLS:C0236970 one_to_one +MONDO:0021702 alcohol amnestic disorder ECTO ECTO:0001082 realized_in_response_to MONDO:0021702 alcohol amnestic disorder EFO EFO:1001759 one_to_one MONDO:0021702 alcohol amnestic disorder MESH MESH:D000425 one_to_one MONDO:0021702 alcohol amnestic disorder MONDO MONDO:0001152,MONDO:0021698 subclass @@ -118750,7 +118966,7 @@ MONDO:0021969 Banti syndrome MONDO MONDO:0001529,MONDO:0005080,MONDO:0005155 dis MONDO:0021969 Banti syndrome MONDO MONDO:0002254 subclass MONDO:0021971 Baraitser Rodeck garner syndrome GARD GARD:0000817 one_to_one MONDO:0021971 Baraitser Rodeck garner syndrome MESH MESH:C537906 one_to_one -MONDO:0021971 Baraitser Rodeck garner syndrome MONDO MONDO:0001476,MONDO:0002473,MONDO:0004747,MONDO:0015621,MONDO:0016064,MONDO:0019491,MONDO:0019750,MONDO:0020004 subclass +MONDO:0021971 Baraitser Rodeck garner syndrome MONDO MONDO:0001476,MONDO:0002320,MONDO:0002473,MONDO:0004747,MONDO:0015621,MONDO:0016064,MONDO:0019491,MONDO:0019750,MONDO:0020004 subclass MONDO:0021971 Baraitser Rodeck garner syndrome UMLS UMLS:C2931663 one_to_one MONDO:0021977 basaloid follicular hamartoma GARD GARD:0002354 one_to_one MONDO:0021977 basaloid follicular hamartoma ICD9 ICD9:706.1 inexact @@ -118876,7 +119092,7 @@ MONDO:0022196 chronic erosive gastritis SCTID SCTID:63137003 one_to_one MONDO:0022196 chronic erosive gastritis UMLS UMLS:C0267145 one_to_one MONDO:0022200 treatment for disease MONDO MONDO:0021125 subclass MONDO:0022201 has treatment by surgery MONDO MONDO:0022200 subclass -MONDO:0022202 disseminated MONDO MONDO:0021125 subclass +MONDO:0022202 disseminated MONDO MONDO:0045040 subclass MONDO:0022236 colpocephaly GARD GARD:0010008 one_to_one MONDO:0022236 colpocephaly MESH MESH:C535973 one_to_one MONDO:0022236 colpocephaly MONDO MONDO:0005560 subclass @@ -119859,7 +120075,8 @@ MONDO:0023141 antihypertensive drugs antenatal exposure syndrome MONDO MONDO:000 MONDO:0023142 fetal brain disruption sequence GARD GARD:0002297 one_to_one MONDO:0023142 fetal brain disruption sequence MONDO MONDO:0002254 subclass MONDO:0023143 fetal enterovirus syndrome GARD GARD:0002302 one_to_one -MONDO:0023143 fetal enterovirus syndrome MONDO MONDO:0002254,MONDO:0005747,MONDO:0015576,MONDO:0016511 subclass +MONDO:0023143 fetal enterovirus syndrome MONDO MONDO:0021127 has_modifier +MONDO:0023143 fetal enterovirus syndrome MONDO MONDO:0002254,MONDO:0016511,MONDO:0017375 subclass MONDO:0023143 fetal enterovirus syndrome NCBITaxon NCBITaxon:12059 realized_in_response_to_stimulus MONDO:0023147 fetal parainfluenza virus type 3 syndrome GARD GARD:0002309 one_to_one MONDO:0023147 fetal parainfluenza virus type 3 syndrome MONDO MONDO:0002254,MONDO:0015576,MONDO:0016511,MONDO:0042974 subclass @@ -119922,7 +120139,7 @@ MONDO:0023186 Fraser Jequier Chen syndrome MONDO MONDO:0002254 subclass MONDO:0023186 Fraser Jequier Chen syndrome UMLS UMLS:C2930912 one_to_one MONDO:0023188 Freiberg disease GARD GARD:0002380 one_to_one MONDO:0023188 Freiberg disease MESH MESH:C535636 one_to_one -MONDO:0023188 Freiberg disease MONDO MONDO:0001359,MONDO:0002254,MONDO:0044989 subclass +MONDO:0023188 Freiberg disease MONDO MONDO:0001359,MONDO:0002254,MONDO:0016086,MONDO:0044989 subclass MONDO:0023188 Freiberg disease SCTID SCTID:28466007 one_to_one MONDO:0023188 Freiberg disease UBERON UBERON:0001448 disease_has_location MONDO:0023188 Freiberg disease UMLS UMLS:C0264099 one_to_one @@ -119974,7 +120191,7 @@ MONDO:0023221 Gaucher ichthyosis restrictive dermopathy GARD GARD:0002444 one_to MONDO:0023221 Gaucher ichthyosis restrictive dermopathy MONDO MONDO:0002254 subclass MONDO:0023224 inherited reflex epilepsy GARD GARD:0002455 one_to_one MONDO:0023224 inherited reflex epilepsy MONDO MONDO:0021152 has_modifier -MONDO:0023224 inherited reflex epilepsy MONDO MONDO:0003847,MONDO:0017768 subclass +MONDO:0023224 inherited reflex epilepsy MONDO MONDO:0002320,MONDO:0003847,MONDO:0017768 subclass MONDO:0023226 gershinibaruch Leibo syndrome GARD GARD:0002464 one_to_one MONDO:0023226 gershinibaruch Leibo syndrome MONDO MONDO:0002254 subclass MONDO:0023227 gestational diabetes insipidus GARD GARD:0010702 one_to_one @@ -120011,12 +120228,12 @@ MONDO:0023250 global disaccharide intolerance GARD GARD:0008386 one_to_one MONDO:0023250 global disaccharide intolerance MONDO MONDO:0009114 subclass MONDO:0023255 glossopalatine ankylosis micrognathia ear anomalies GARD GARD:0002495 one_to_one MONDO:0023255 glossopalatine ankylosis micrognathia ear anomalies MONDO MONDO:0002254 subclass -MONDO:0023258 glucose-6-phosphate translocase deficiency GARD GARD:0002501 one_to_one -MONDO:0023258 glucose-6-phosphate translocase deficiency MESH MESH:C536831 one_to_one -MONDO:0023258 glucose-6-phosphate translocase deficiency MONDO MONDO:0018220 subclass -MONDO:0023258 glucose-6-phosphate translocase deficiency UMLS UMLS:C2931345 one_to_one -MONDO:0023258 glucose-6-phosphate translocase deficiency http http://identifiers.org/hgnc/4061 disease_has_basis_in_dysfunction_of -MONDO:0023258 glucose-6-phosphate translocase deficiency http http://identifiers.org/hgnc/4061 one_to_one +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation GARD GARD:0002501 one_to_one +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation MESH MESH:C536831 one_to_one +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation MONDO MONDO:0002413 subclass +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation UMLS UMLS:C2931345 one_to_one +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation http http://identifiers.org/hgnc/4061 disease_has_basis_in_dysfunction_of +MONDO:0023258 glycogen storage disease type 1 due to SLC37A4 mutation http http://identifiers.org/hgnc/4061 one_to_one MONDO:0023263 glyceraldehyde-3-phosphate dehydrogenase deficiency GARD GARD:0002510 one_to_one MONDO:0023263 glyceraldehyde-3-phosphate dehydrogenase deficiency MESH MESH:C536837 one_to_one MONDO:0023263 glyceraldehyde-3-phosphate dehydrogenase deficiency MONDO MONDO:0002908 subclass @@ -120102,7 +120319,7 @@ MONDO:0023513 Jeune syndrome situs inversus MONDO MONDO:0009162 subclass MONDO:0023513 Jeune syndrome situs inversus UMLS UMLS:C2931535 one_to_one MONDO:0023521 Judge Misch wright syndrome GARD GARD:0003061 one_to_one MONDO:0023521 Judge Misch wright syndrome MESH MESH:C537692 one_to_one -MONDO:0023521 Judge Misch wright syndrome MONDO MONDO:0002884,MONDO:0006548,MONDO:0015946,MONDO:0020215 subclass +MONDO:0023521 Judge Misch wright syndrome MONDO MONDO:0002320,MONDO:0002884,MONDO:0006548,MONDO:0015946,MONDO:0020215 subclass MONDO:0023521 Judge Misch wright syndrome UMLS UMLS:C2931590 one_to_one MONDO:0023528 KSHV inflammatory cytokine syndrome GARD GARD:0010827 one_to_one MONDO:0023528 KSHV inflammatory cytokine syndrome MONDO MONDO:0005055 disease_has_feature @@ -120162,7 +120379,7 @@ MONDO:0023573 Kozlowski Warren Fisher syndrome MONDO MONDO:0002254,MONDO:0017042 MONDO:0023573 Kozlowski Warren Fisher syndrome UMLS UMLS:C2931546 one_to_one MONDO:0023575 Krauss Herman Holmes syndrome GARD GARD:0003143 one_to_one MONDO:0023575 Krauss Herman Holmes syndrome MESH MESH:C537618 one_to_one -MONDO:0023575 Krauss Herman Holmes syndrome MONDO MONDO:0001008,MONDO:0002254,MONDO:0007778,MONDO:0020151 subclass +MONDO:0023575 Krauss Herman Holmes syndrome MONDO MONDO:0001008,MONDO:0002254,MONDO:0002320,MONDO:0007778,MONDO:0020151 subclass MONDO:0023575 Krauss Herman Holmes syndrome UMLS UMLS:C2931549 one_to_one MONDO:0023577 Krieble Bixler syndrome GARD GARD:0003144 one_to_one MONDO:0023577 Krieble Bixler syndrome MESH MESH:C537619 one_to_one @@ -120224,7 +120441,7 @@ MONDO:0023644 lip and oral cavity carcinoma NCIT NCIT:C9315 one_to_one MONDO:0023644 lip and oral cavity carcinoma UMLS UMLS:C0220641 one_to_one MONDO:0023646 lipodermatosclerosis GARD GARD:0009671 one_to_one MONDO:0023646 lipodermatosclerosis MESH MESH:C537026 one_to_one -MONDO:0023646 lipodermatosclerosis MONDO MONDO:0005300,MONDO:0006591,MONDO:0015940,MONDO:0016169,MONDO:0016367,MONDO:0019562,MONDO:0021667 subclass +MONDO:0023646 lipodermatosclerosis MONDO MONDO:0002406,MONDO:0006591,MONDO:0015940,MONDO:0017841,MONDO:0019562 subclass MONDO:0023646 lipodermatosclerosis SCTID SCTID:410016009 one_to_one MONDO:0023646 lipodermatosclerosis UMLS UMLS:C0406500 one_to_one MONDO:0023650 littoral cell angioma of the spleen GARD GARD:0009714 one_to_one @@ -120329,6 +120546,7 @@ MONDO:0024246 syringofibroadenoma UMLS UMLS:C0473578,UMLS:C1266060 inexact MONDO:0024247 benign eccrine neoplasm MONDO MONDO:0002090,MONDO:0021489 subclass MONDO:0024247 benign eccrine neoplasm NCIT NCIT:C6797 one_to_one MONDO:0024247 benign eccrine neoplasm PATO PATO:0002096 has_modifier +MONDO:0024247 benign eccrine neoplasm SCTID SCTID:254715009 one_to_one MONDO:0024247 benign eccrine neoplasm UMLS UMLS:C1332493 one_to_one MONDO:0024249 pityriasis lichenoides GARD GARD:0010265 one_to_one MONDO:0024249 pityriasis lichenoides MESH MESH:D017514 one_to_one @@ -120798,12 +121016,16 @@ MONDO:0024430 allesthesia MONDO MONDO:0024417 subclass MONDO:0024431 bilirubin metabolism disease GO GO:0015723 disease_disrupts MONDO:0024431 bilirubin metabolism disease MONDO MONDO:0005066 subclass MONDO:0024431 bilirubin metabolism disease SCTID SCTID:80006005 one_to_one +MONDO:0024432 nerve plexus disease DOID DOID:3688 one_to_one +MONDO:0024432 nerve plexus disease MONDO MONDO:0005559,MONDO:0024236 excluded_subClassOf MONDO:0024432 nerve plexus disease MONDO MONDO:0000001,MONDO:0005244 subclass +MONDO:0024432 nerve plexus disease NCIT NCIT:C27744 one_to_one MONDO:0024432 nerve plexus disease SCTID SCTID:2231001 one_to_one MONDO:0024432 nerve plexus disease UBERON UBERON:0001810 disease_has_location +MONDO:0024432 nerve plexus disease UMLS UMLS:C1335437 one_to_one MONDO:0024454 sacral nerve plexus disease GARD GARD:0007597 one_to_one MONDO:0024454 sacral nerve plexus disease MESH MESH:C537224 one_to_one -MONDO:0024454 sacral nerve plexus disease MONDO MONDO:0000001,MONDO:0024432 subclass +MONDO:0024454 sacral nerve plexus disease MONDO MONDO:0000001,MONDO:0001829 subclass MONDO:0024454 sacral nerve plexus disease UBERON UBERON:0034986 disease_has_location MONDO:0024454 sacral nerve plexus disease UMLS UMLS:C2931445 one_to_one MONDO:0024455 autosomal dominant Robinow syndrome 1 DOID DOID:0060766 one_to_one @@ -120900,7 +121122,7 @@ MONDO:0024479 epithelial tumor of colon UBERON UBERON:0001155 disease_has_locati MONDO:0024480 dermatosis of eyelid MONDO MONDO:0003382 subclass MONDO:0024480 dermatosis of eyelid SCTID SCTID:402700001 one_to_one MONDO:0024480 dermatosis of eyelid UMLS UMLS:C1274150 one_to_one -MONDO:0024481 skin appendage disease MONDO MONDO:0000001,MONDO:0002051,MONDO:0045027 subclass +MONDO:0024481 skin appendage disease MONDO MONDO:0000001,MONDO:0002051 subclass MONDO:0024481 skin appendage disease SCTID SCTID:238714008 one_to_one MONDO:0024481 skin appendage disease UBERON UBERON:0000021 disease_has_location MONDO:0024481 skin appendage disease UMLS UMLS:C0037272 one_to_one @@ -121510,7 +121732,7 @@ MONDO:0024873 clitoral carcinoma MONDO MONDO:0002290,MONDO:0004993,MONDO:0005215 MONDO:0024873 clitoral carcinoma NCIT NCIT:C9362 one_to_one MONDO:0024873 clitoral carcinoma UBERON UBERON:0002411 disease_has_location MONDO:0024873 clitoral carcinoma UMLS UMLS:C1333070 one_to_one -MONDO:0024876 tendon sheath disorder ICD9 ICD9:727.9 one_to_one +MONDO:0024876 tendon sheath disorder ICD9 ICD9:727.9 inexact MONDO:0024876 tendon sheath disorder MONDO MONDO:0000001,MONDO:0100010 subclass MONDO:0024876 tendon sheath disorder SCTID SCTID:312381009 one_to_one MONDO:0024876 tendon sheath disorder UBERON UBERON:0000304 disease_has_location @@ -122487,7 +122709,7 @@ MONDO:0037938 inborn disorder of aspartate family metabolism MONDO MONDO:0004736 MONDO:0037939 porphyria MONDO MONDO:0037821 subclass MONDO:0037939 porphyria SCTID SCTID:418470004 one_to_one MONDO:0037940 inherited auditory system disease MONDO MONDO:0021152 has_modifier -MONDO:0037940 inherited auditory system disease MONDO MONDO:0002409,MONDO:0003847,MONDO:0019117 subclass +MONDO:0037940 inherited auditory system disease MONDO MONDO:0002320,MONDO:0002409,MONDO:0003847,MONDO:0019117 subclass MONDO:0037940 inherited auditory system disease SCTID SCTID:362991006 one_to_one MONDO:0037940 inherited auditory system disease UMLS UMLS:C1285174 one_to_one MONDO:0040566 inherited glutathione metabolism disease GO GO:0006749 disease_has_basis_in_disruption_of @@ -122696,7 +122918,7 @@ MONDO:0041996 thallium poisoning MONDO MONDO:0023305 subclass MONDO:0041996 thallium poisoning SCTID SCTID:51040009 one_to_one MONDO:0042233 disseminated candidiasis GARD GARD:0001076 one_to_one MONDO:0042233 disseminated candidiasis MONDO MONDO:0022202 has_modifier -MONDO:0042233 disseminated candidiasis MONDO MONDO:0002026 subclass +MONDO:0042233 disseminated candidiasis MONDO MONDO:0002026,MONDO:0045033 subclass MONDO:0042233 disseminated candidiasis NCIT NCIT:C116812 one_to_one MONDO:0042233 disseminated candidiasis SCTID SCTID:70572005 one_to_one MONDO:0042370 Yersinia enterocolitica infectious disease MONDO MONDO:0005550,MONDO:0007023 subclass @@ -122717,7 +122939,7 @@ MONDO:0042458 Trichinella spiralis infectious disease NCBITaxon NCBITaxon:6334 r MONDO:0042458 Trichinella spiralis infectious disease SCTID SCTID:88264003 one_to_one MONDO:0042458 Trichinella spiralis infectious disease UMLS UMLS:C3887668 one_to_one MONDO:0042484 disseminated sporotrichosis MONDO MONDO:0022202 has_modifier -MONDO:0042484 disseminated sporotrichosis MONDO MONDO:0005968 subclass +MONDO:0042484 disseminated sporotrichosis MONDO MONDO:0000256,MONDO:0005968 subclass MONDO:0042484 disseminated sporotrichosis SCTID SCTID:91051003 one_to_one MONDO:0042484 disseminated sporotrichosis UMLS UMLS:C0276725 one_to_one MONDO:0042485 infective arthritis MONDO MONDO:0005550 realized_in_response_to_stimulus @@ -122971,7 +123193,7 @@ MONDO:0043005 genetic multiple congenital anomalies/dysmorphic syndrome MONDO MO MONDO:0043005 genetic multiple congenital anomalies/dysmorphic syndrome MONDO MONDO:0003847,MONDO:0015960,MONDO:0019042 subclass MONDO:0043005 genetic multiple congenital anomalies/dysmorphic syndrome Orphanet Orphanet:183533 one_to_one MONDO:0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO MONDO:0021152 has_modifier -MONDO:0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO MONDO:0015160,MONDO:0015983,MONDO:0043005 subclass +MONDO:0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015160,MONDO:0015983,MONDO:0043005 subclass MONDO:0043007 genetic multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome Orphanet Orphanet:330197 one_to_one MONDO:0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO MONDO:0021152 has_modifier MONDO:0043008 genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability MONDO MONDO:0015161,MONDO:0043005 subclass @@ -123027,7 +123249,7 @@ MONDO:0043096 holoacardius amorphus Orphanet Orphanet:2161 one_to_one MONDO:0043096 holoacardius amorphus SCTID SCTID:41049003 one_to_one MONDO:0043099 hordnes engebretsen knudtson syndrome GARD GARD:0002736 one_to_one MONDO:0043099 hordnes engebretsen knudtson syndrome MESH MESH:C536067 one_to_one -MONDO:0043099 hordnes engebretsen knudtson syndrome MONDO MONDO:0006936,MONDO:0015469,MONDO:0015982,MONDO:0020029 subclass +MONDO:0043099 hordnes engebretsen knudtson syndrome MONDO MONDO:0002320,MONDO:0006936,MONDO:0015469,MONDO:0015982,MONDO:0020029 subclass MONDO:0043099 hordnes engebretsen knudtson syndrome UMLS UMLS:C2931100 one_to_one MONDO:0043101 hypothalamic dysfunction GARD GARD:0002932 one_to_one MONDO:0043101 hypothalamic dysfunction MONDO MONDO:0002150 subclass @@ -123074,7 +123296,7 @@ MONDO:0043125 mcpherson robertson cammarano syndrome MONDO MONDO:0000728 subclas MONDO:0043125 mcpherson robertson cammarano syndrome UMLS UMLS:C2931751 one_to_one MONDO:0043127 mehta lewis patton syndrome GARD GARD:0003450 one_to_one MONDO:0043127 mehta lewis patton syndrome MESH MESH:C536147 one_to_one -MONDO:0043127 mehta lewis patton syndrome MONDO MONDO:0000728,MONDO:0005453,MONDO:0008797,MONDO:0015107,MONDO:0015469,MONDO:0020029 subclass +MONDO:0043127 mehta lewis patton syndrome MONDO MONDO:0000728,MONDO:0002320,MONDO:0005453,MONDO:0008797,MONDO:0015107,MONDO:0015469,MONDO:0020029 subclass MONDO:0043127 mehta lewis patton syndrome UMLS UMLS:C2931120 one_to_one MONDO:0043129 merlob grunebaum reisner syndrome GARD GARD:0003545 one_to_one MONDO:0043129 merlob grunebaum reisner syndrome MESH MESH:C537461 one_to_one @@ -123546,7 +123768,7 @@ MONDO:0043549 crush syndrome MONDO MONDO:0005240 subclass MONDO:0043549 crush syndrome SCTID SCTID:23697004 one_to_one MONDO:0043555 infantile diarrhea HP HP:0003593 has_modifier MONDO:0043555 infantile diarrhea MESH MESH:D003968 one_to_one -MONDO:0043555 infantile diarrhea MONDO MONDO:0001673 subclass +MONDO:0043555 infantile diarrhea MONDO MONDO:0001673,MONDO:0045031 subclass MONDO:0043555 infantile diarrhea SCTID SCTID:39963006 one_to_one MONDO:0043555 infantile diarrhea UMLS UMLS:C0473132 one_to_one MONDO:0043576 endarteritis EFO EFO:0009084 one_to_one @@ -123586,6 +123808,7 @@ MONDO:0043683 Leriche syndrome MONDO MONDO:0002254,MONDO:0005561 subclass MONDO:0043683 Leriche syndrome NCIT NCIT:C34773 one_to_one MONDO:0043683 Leriche syndrome SCTID SCTID:307816004 one_to_one MONDO:0043683 Leriche syndrome UMLS UMLS:C0023370 one_to_one +MONDO:0043693 alcoholic liver diseases ECTO ECTO:0001082 realized_in_response_to MONDO:0043693 alcoholic liver diseases EFO EFO:0008573 one_to_one MONDO:0043693 alcoholic liver diseases MESH MESH:D008108 one_to_one MONDO:0043693 alcoholic liver diseases MONDO MONDO:0005154,MONDO:0021699 subclass @@ -124078,13 +124301,13 @@ MONDO:0044355 isolated sternocostoclavicular hyperostosis Orphanet Orphanet:1783 MONDO:0044355 isolated sternocostoclavicular hyperostosis UMLS UMLS:C0020499 one_to_one MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome MONDO MONDO:0019287,MONDO:0019942 subclass MONDO:0044406 arthrogryposis-ectodermal dysplasia-other anomalies syndrome Orphanet Orphanet:3200 one_to_one -MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome MONDO MONDO:0015226,MONDO:0018455,MONDO:0018609,MONDO:0019274,MONDO:0019275,MONDO:0019690 subclass +MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome MONDO MONDO:0002320,MONDO:0015226,MONDO:0018455,MONDO:0018609,MONDO:0019274,MONDO:0019275,MONDO:0019690 subclass MONDO:0044617 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome Orphanet Orphanet:482606 one_to_one MONDO:0044618 CLCN4-related X-linked intellectual disability syndrome MONDO MONDO:0020119 subclass MONDO:0044618 CLCN4-related X-linked intellectual disability syndrome Orphanet Orphanet:485350 one_to_one MONDO:0044619 propylthiouracil embryofetopathy MONDO MONDO:0015323,MONDO:0016677 subclass MONDO:0044619 propylthiouracil embryofetopathy Orphanet Orphanet:485358 one_to_one -MONDO:0044621 16p12.1p12.3 triplication syndrome MONDO MONDO:0015159,MONDO:0015983,MONDO:0016949,MONDO:0043005 subclass +MONDO:0044621 16p12.1p12.3 triplication syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983,MONDO:0016949,MONDO:0043005 subclass MONDO:0044621 16p12.1p12.3 triplication syndrome Orphanet Orphanet:485405 one_to_one MONDO:0044622 EMILIN-1-related connective tissue disease MONDO MONDO:0016134 subclass MONDO:0044622 EMILIN-1-related connective tissue disease Orphanet Orphanet:485418 one_to_one @@ -124101,7 +124324,7 @@ MONDO:0044628 six2-related frontonasal dysplasia MONDO MONDO:0016643 subclass MONDO:0044628 six2-related frontonasal dysplasia Orphanet Orphanet:488437 one_to_one MONDO:0044629 congenital amyoplasia MONDO MONDO:0015225 subclass MONDO:0044629 congenital amyoplasia Orphanet Orphanet:488586 one_to_one -MONDO:0044630 rere-related neurodevelopmental syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0044630 rere-related neurodevelopmental syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0044630 rere-related neurodevelopmental syndrome Orphanet Orphanet:494344 one_to_one MONDO:0044631 early-onset familial noncirrhotic portal hypertension MONDO MONDO:0015113,MONDO:0015507,MONDO:0016517 subclass MONDO:0044631 early-onset familial noncirrhotic portal hypertension Orphanet Orphanet:494348 one_to_one @@ -124109,7 +124332,7 @@ MONDO:0044632 extracranial carotid artery aneurysm MONDO MONDO:0018723 subclass MONDO:0044632 extracranial carotid artery aneurysm Orphanet Orphanet:494424 one_to_one MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis MONDO MONDO:0002429 subclass MONDO:0044633 idiopathic pleuroparenchymal fibroelastosis Orphanet Orphanet:494428 one_to_one -MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO MONDO:0004589,MONDO:0015329,MONDO:0019589,MONDO:0020240,MONDO:0043007 subclass +MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome MONDO MONDO:0015329,MONDO:0019589,MONDO:0020240,MONDO:0043007 subclass MONDO:0044634 retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome Orphanet Orphanet:494439 one_to_one MONDO:0044635 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome MONDO MONDO:0018795,MONDO:0019589 subclass MONDO:0044635 diaph1-related sensorineural hearing loss-thrombocytopenia syndrome Orphanet Orphanet:494444 one_to_one @@ -124144,15 +124367,15 @@ MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial r MONDO:0044649 omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome Orphanet Orphanet:496693 one_to_one MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome MONDO MONDO:0015327,MONDO:0015363,MONDO:0015983,MONDO:0018307,MONDO:0019052,MONDO:0020046 subclass MONDO:0044651 early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome Orphanet Orphanet:496756 one_to_one -MONDO:0044652 optic atrophy-peripheral neuropathy-developmental delay syndrome MONDO MONDO:0015983,MONDO:0016133,MONDO:0016327,MONDO:0016803,MONDO:0018609 subclass +MONDO:0044652 optic atrophy-peripheral neuropathy-developmental delay syndrome MONDO MONDO:0002320,MONDO:0015983,MONDO:0016133,MONDO:0016327,MONDO:0016803,MONDO:0018609 subclass MONDO:0044652 optic atrophy-peripheral neuropathy-developmental delay syndrome Orphanet Orphanet:496790 one_to_one -MONDO:0044655 c12orf65-related combined oxidative phosphorylation defect MONDO MONDO:0015960,MONDO:0015983,MONDO:0018157,MONDO:0018609,MONDO:0019058 subclass +MONDO:0044655 c12orf65-related combined oxidative phosphorylation defect MONDO MONDO:0002320,MONDO:0015960,MONDO:0015983,MONDO:0018157,MONDO:0018609,MONDO:0019058 subclass MONDO:0044655 c12orf65-related combined oxidative phosphorylation defect Orphanet Orphanet:497623 one_to_one MONDO:0044656 epidermolytic nevus MONDO MONDO:0017266 subclass MONDO:0044656 epidermolytic nevus Orphanet Orphanet:497737 one_to_one MONDO:0044656 epidermolytic nevus SCTID SCTID:400142003 one_to_one MONDO:0044656 epidermolytic nevus UMLS UMLS:C1302848 one_to_one -MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 MONDO MONDO:0000648,MONDO:0001406,MONDO:0017414,MONDO:0018993,MONDO:0020036 subclass +MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 MONDO MONDO:0000648,MONDO:0001406,MONDO:0002320,MONDO:0017414,MONDO:0018993,MONDO:0020036 subclass MONDO:0044657 MME-related autosomal dominant Charcot Marie Tooth disease type 2 Orphanet Orphanet:497757 one_to_one MONDO:0044660 menstrual cycle-dependent periodic fever MONDO MONDO:0015860 subclass MONDO:0044660 menstrual cycle-dependent periodic fever Orphanet Orphanet:498251 one_to_one @@ -124185,7 +124408,7 @@ MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasi MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome OMIM OMIM:617669 one_to_one MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome Orphanet Orphanet:500144 one_to_one MONDO:0044696 early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome UMLS UMLS:CN474476 one_to_one -MONDO:0044699 sin3a-related intellectual disability syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0044699 sin3a-related intellectual disability syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0044699 sin3a-related intellectual disability syndrome Orphanet Orphanet:500163 one_to_one MONDO:0044700 sin3a-related intellectual disability syndrome due to a point mutation MONDO MONDO:0044699 subclass MONDO:0044700 sin3a-related intellectual disability syndrome due to a point mutation Orphanet Orphanet:500166 one_to_one @@ -124217,7 +124440,7 @@ MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy sy MONDO:0044714 mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome UMLS UMLS:CN484737 one_to_one MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome MONDO MONDO:0015338,MONDO:0020169,MONDO:0043007 subclass MONDO:0044715 metopic ridging-ptosis-facial dysmorphism syndrome Orphanet Orphanet:502430 one_to_one -MONDO:0044716 stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0044716 stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0044716 stag1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome Orphanet Orphanet:502434 one_to_one MONDO:0044717 4q25 proximal deletion syndrome MONDO MONDO:0016903,MONDO:0043007 subclass MONDO:0044717 4q25 proximal deletion syndrome Orphanet Orphanet:502437 one_to_one @@ -124254,7 +124477,7 @@ MONDO:0044727 pancreatic carcinoma with mixed differentiation Orphanet Orphanet: MONDO:0044727 pancreatic carcinoma with mixed differentiation UMLS UMLS:C1709050 one_to_one MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction MONDO MONDO:0015089,MONDO:0015905,MONDO:0015983,MONDO:0018118 subclass MONDO:0044737 autosomal recessive complex spastic paraplegia due to kennedy pathway dysfunction Orphanet Orphanet:506353 one_to_one -MONDO:0044738 Gabriele de Vries syndrome MONDO MONDO:0015159,MONDO:0015983 subclass +MONDO:0044738 Gabriele de Vries syndrome MONDO MONDO:0002320,MONDO:0015159,MONDO:0015983 subclass MONDO:0044738 Gabriele de Vries syndrome OMIM OMIM:617557 one_to_one MONDO:0044738 Gabriele de Vries syndrome Orphanet Orphanet:506358 one_to_one MONDO:0044738 Gabriele de Vries syndrome UMLS UMLS:C4479652 one_to_one @@ -124292,7 +124515,7 @@ MONDO:0044748 anaplasmosis in cattle MESH MESH:D000712 one_to_one MONDO:0044748 anaplasmosis in cattle MONDO MONDO:0025303 subclass MONDO:0044749 X-linked congenital stationary night blindness GARD GARD:0003995 one_to_one MONDO:0044749 X-linked congenital stationary night blindness HP HP:0001417 has_modifier -MONDO:0044749 X-linked congenital stationary night blindness MONDO MONDO:0000425,MONDO:0004587,MONDO:0004589,MONDO:0016293 subclass +MONDO:0044749 X-linked congenital stationary night blindness MONDO MONDO:0000425,MONDO:0016293 subclass MONDO:0044749 X-linked congenital stationary night blindness UMLS UMLS:CN043584 one_to_one MONDO:0044750 lassa virus infectious disease MONDO MONDO:0005550,MONDO:0005650 subclass MONDO:0044750 lassa virus infectious disease NCBITaxon NCBITaxon:11620 realized_in_response_to_stimulus @@ -124407,7 +124630,7 @@ MONDO:0044800 desmoplastic spitz nevus MONDO MONDO:0044793,MONDO:0044797 subclas MONDO:0044800 desmoplastic spitz nevus NCIT NCIT:C82864 one_to_one MONDO:0044800 desmoplastic spitz nevus UMLS UMLS:C1275419 one_to_one MONDO:0044807 inherited dystonia MONDO MONDO:0021152 has_modifier -MONDO:0044807 inherited dystonia MONDO MONDO:0003441,MONDO:0003847,MONDO:0018331 subclass +MONDO:0044807 inherited dystonia MONDO MONDO:0002320,MONDO:0003441,MONDO:0003847,MONDO:0018331 subclass MONDO:0044807 inherited dystonia NCIT NCIT:C35527 one_to_one MONDO:0044808 early onset primary dystonia MONDO MONDO:0044807 subclass MONDO:0044808 early onset primary dystonia NCIT NCIT:C116718 one_to_one @@ -124630,8 +124853,7 @@ MONDO:0045002 vertebral disease UBERON UBERON:0002412 disease_has_location MONDO:0045003 scrotal disease MONDO MONDO:0000001,MONDO:0003150 subclass MONDO:0045003 scrotal disease SCTID SCTID:49701002 one_to_one MONDO:0045003 scrotal disease UBERON UBERON:0001300 disease_has_location -MONDO:0045004 skeletal ligament disease MONDO MONDO:0000001,MONDO:0005172 subclass -MONDO:0045004 skeletal ligament disease SCTID SCTID:60492000 one_to_one +MONDO:0045004 skeletal ligament disease MONDO MONDO:0000001,MONDO:0005172,MONDO:0045044 subclass MONDO:0045004 skeletal ligament disease UBERON UBERON:0008846 disease_has_location MONDO:0045008 cholesterol metabolism disease GO GO:0008203 disease_has_basis_in_disruption_of MONDO:0045008 cholesterol metabolism disease MONDO MONDO:0000001,MONDO:0019256 subclass @@ -124640,7 +124862,7 @@ MONDO:0045010 glycoprotein metabolism disease GO GO:0009100 disease_has_basis_in MONDO:0045010 glycoprotein metabolism disease MONDO MONDO:0000001,MONDO:0019052 subclass MONDO:0045010 glycoprotein metabolism disease SCTID SCTID:238045003 one_to_one MONDO:0045011 keratinization disease GO GO:0031424 disease_disrupts -MONDO:0045011 keratinization disease MONDO MONDO:0000001,MONDO:0002051,MONDO:0021147,MONDO:0045027 subclass +MONDO:0045011 keratinization disease MONDO MONDO:0000001,MONDO:0002051,MONDO:0021147 subclass MONDO:0045011 keratinization disease SCTID SCTID:277905003 one_to_one MONDO:0045012 steroid metabolism disease GO GO:0008202 disease_has_basis_in_disruption_of MONDO:0045012 steroid metabolism disease MONDO MONDO:0000001,MONDO:0005066 subclass @@ -124680,10 +124902,85 @@ MONDO:0045023 acquired adrenogenital syndrome MONDO MONDO:0006504,MONDO:0015898 MONDO:0045023 acquired adrenogenital syndrome SCTID SCTID:190512008 one_to_one MONDO:0045024 cell proliferation disorder GO GO:0008283 disease_disrupts MONDO:0045024 cell proliferation disorder MONDO MONDO:0000001 subclass -MONDO:0045027 disorder of integumental system MONDO MONDO:0000001,MONDO:0021199,MONDO:0024505 subclass -MONDO:0045027 disorder of integumental system SCTID SCTID:128598002 one_to_one -MONDO:0045027 disorder of integumental system UBERON UBERON:0002416 disease_has_location MONDO:0045028 radiation of chemically induced disorder MONDO MONDO:0000001 subclass +MONDO:0045030 non-infectious diarrheal disease MONDO MONDO:0001673 subclass +MONDO:0045030 non-infectious diarrheal disease SCTID SCTID:69980003 one_to_one +MONDO:0045031 infectious diarrheal disease MONDO MONDO:0001673,MONDO:0005550,MONDO:0043424 subclass +MONDO:0045031 infectious diarrheal disease SCTID SCTID:19213003 one_to_one +MONDO:0045032 congenital secretory diarrhea ICD9 ICD9:579.8 inexact +MONDO:0045032 congenital secretory diarrhea MONDO MONDO:0000249,MONDO:0000824 subclass +MONDO:0045032 congenital secretory diarrhea SCTID SCTID:25898005 one_to_one +MONDO:0045033 opportunistic systemic mycosis MONDO MONDO:0045035 has_modifier +MONDO:0045033 opportunistic systemic mycosis MONDO MONDO:0000256,MONDO:0002312 subclass +MONDO:0045034 infectious disease characteristic MONDO MONDO:0021125 subclass +MONDO:0045035 opportunistic infectious MONDO MONDO:0045034 subclass +MONDO:0045036 primary infectious MONDO MONDO:0045034 subclass +MONDO:0045037 hyalohyphomycosis MONDO MONDO:0002312 subclass +MONDO:0045037 hyalohyphomycosis SCTID SCTID:240773008 one_to_one +MONDO:0045038 cutaneous basidiobolomycosis MONDO MONDO:0000254,MONDO:0000302 subclass +MONDO:0045038 cutaneous basidiobolomycosis SCTID SCTID:240786004 one_to_one +MONDO:0045038 cutaneous basidiobolomycosis UBERON UBERON:0002416 disease_has_location +MONDO:0045039 systemic basidiobolomycosis MONDO MONDO:0000302 subclass +MONDO:0045039 systemic basidiobolomycosis SCTID SCTID:240787008 one_to_one +MONDO:0045040 locational disease characteristic MONDO MONDO:0021125 subclass +MONDO:0045042 localized MONDO MONDO:0045040 subclass +MONDO:0045043 disease of uterine broad ligament MONDO MONDO:0000001,MONDO:0045044 subclass +MONDO:0045043 disease of uterine broad ligament SCTID SCTID:237062006 one_to_one +MONDO:0045043 disease of uterine broad ligament UBERON UBERON:0012332 disease_has_location +MONDO:0045044 ligament disease MONDO MONDO:0000001 subclass +MONDO:0045044 ligament disease SCTID SCTID:60492000 one_to_one +MONDO:0045044 ligament disease UBERON UBERON:0000211 disease_has_location +MONDO:0045045 selective IgG immunodeficiency MONDO MONDO:0001342 subclass +MONDO:0045045 selective IgG immunodeficiency NCIT NCIT:C27142 one_to_one +MONDO:0045046 inherited thyroid metabolism disease GO GO:0042403 disease_has_basis_in_disruption_of +MONDO:0045046 inherited thyroid metabolism disease ICD9 ICD9:246.8 inexact +MONDO:0045046 inherited thyroid metabolism disease MONDO MONDO:0003240,MONDO:0019052 subclass +MONDO:0045046 inherited thyroid metabolism disease SCTID SCTID:36985004 one_to_one +MONDO:0045047 neurosarcoidosis MONDO MONDO:0019338,MONDO:0020009 subclass +MONDO:0045047 neurosarcoidosis SCTID SCTID:230193008 one_to_one +MONDO:0045047 neurosarcoidosis UBERON UBERON:0001016 disease_has_location +MONDO:0045048 toxemia of pregnancy MONDO MONDO:0024664 subclass +MONDO:0045048 toxemia of pregnancy NCIT NCIT:C34943 one_to_one +MONDO:0045049 hypermature cataract ICD9 ICD9:366.18 inexact +MONDO:0045049 hypermature cataract MONDO MONDO:0005129 subclass +MONDO:0045049 hypermature cataract SCTID SCTID:267626000 one_to_one +MONDO:0045050 nuclear cataract HP HP:0100018 one_to_one +MONDO:0045050 nuclear cataract ICD9 ICD9:366.04 one_to_one +MONDO:0045050 nuclear cataract MONDO MONDO:0005129 subclass +MONDO:0045050 nuclear cataract SCTID SCTID:53889007 one_to_one +MONDO:0045050 nuclear cataract UBERON UBERON:0000390 disease_has_location +MONDO:0045051 cortical cataract ICD9 ICD9:366.03 one_to_one +MONDO:0045051 cortical cataract MONDO MONDO:0005129 subclass +MONDO:0045051 cortical cataract SCTID SCTID:193576003 one_to_one +MONDO:0045051 cortical cataract UBERON UBERON:0000389 disease_has_location +MONDO:0045052 benign osteogenic neoplasm MONDO MONDO:0000654,MONDO:0045053 subclass +MONDO:0045052 benign osteogenic neoplasm NCIT NCIT:C6602 one_to_one +MONDO:0045052 benign osteogenic neoplasm PATO PATO:0002096 has_modifier +MONDO:0045053 osteogenic neoplasm CL CL:0000062 disease_arises_from_structure +MONDO:0045053 osteogenic neoplasm MONDO MONDO:0002616 subclass +MONDO:0045053 osteogenic neoplasm NCIT NCIT:C6603 one_to_one +MONDO:0045054 cancer-related condition MONDO MONDO:0045024 subclass +MONDO:0045054 cancer-related condition NCIT NCIT:C8278 one_to_one +MONDO:0045055 glycogen-rich carcinoma MONDO MONDO:0004993 subclass +MONDO:0045055 glycogen-rich carcinoma NCIT NCIT:C4153 one_to_one +MONDO:0045056 grade II meningioma MONDO MONDO:0024492 has_modifier +MONDO:0045056 grade II meningioma MONDO MONDO:0016642 subclass +MONDO:0045056 grade II meningioma NCIT NCIT:C38937 one_to_one +MONDO:0045057 delirium ICD9 ICD9:293.0 one_to_one +MONDO:0045057 delirium MESH MESH:D003693 one_to_one +MONDO:0045057 delirium MONDO MONDO:0002039 subclass +MONDO:0045057 delirium SCTID SCTID:2776000 one_to_one +MONDO:0045058 ACTH-producing pituitary gland neoplasm GO GO:0051458 realized_in +MONDO:0045058 ACTH-producing pituitary gland neoplasm MONDO MONDO:0005070,MONDO:0017611 subclass +MONDO:0045058 ACTH-producing pituitary gland neoplasm NCIT NCIT:C7909 one_to_one +MONDO:0045058 ACTH-producing pituitary gland neoplasm UBERON UBERON:0000007 disease_has_location +MONDO:0045059 cribriform carcinoma of breast DOID DOID:5675 one_to_one +MONDO:0045059 cribriform carcinoma of breast MONDO MONDO:0004989,MONDO:0006176 subclass +MONDO:0045059 cribriform carcinoma of breast NCIT NCIT:C35920 disease_has_feature +MONDO:0045060 intraductal cribriform breast adenocarcinoma ICDO ICDO:8201/2 one_to_one +MONDO:0045060 intraductal cribriform breast adenocarcinoma MONDO MONDO:0005023,MONDO:0045059 subclass +MONDO:0045060 intraductal cribriform breast adenocarcinoma NCIT NCIT:C35920 disease_has_feature +MONDO:0045060 intraductal cribriform breast adenocarcinoma NCIT NCIT:C5138 one_to_one MONDO:0100000 MED12-related intellectual disability syndrome MONDO MONDO:0020119 subclass MONDO:0100000 MED12-related intellectual disability syndrome http http://identifiers.org/hgnc/11957 disease_has_basis_in_dysfunction_of MONDO:0100001 alpha-gal syndrome MONDO MONDO:0005271 subclass @@ -124694,7 +124991,7 @@ MONDO:0100004 mast cell activation syndrome MONDO MONDO:0000001,MONDO:0004805,MO MONDO:0100005 primary mast cell activation syndrome MONDO MONDO:0100004 subclass MONDO:0100006 secondary mast cell activation syndrome MONDO MONDO:0100004 subclass MONDO:0100008 food protein-induced enterocolitis syndrome MONDO MONDO:0009172 subclass -MONDO:0100010 tendinopathy MONDO MONDO:0000001,MONDO:0003900 subclass +MONDO:0100010 tendinopathy MONDO MONDO:0000001,MONDO:0002081,MONDO:0003900 subclass MONDO:0100010 tendinopathy SCTID SCTID:68172002 one_to_one MONDO:0100010 tendinopathy UBERON UBERON:0000043 disease_has_location MONDO:0100011 tendinosis MONDO MONDO:0100010 subclass @@ -124724,7 +125021,7 @@ MONDO:0100030 adolescent/adult-onset epilepsy syndrome http http://orcid.org/000 MONDO:0100031 autosomal dominant epilepsy with auditory features MONDO MONDO:0100030 subclass MONDO:0100032 familial temporal lobe epilepsy syndrome MONDO MONDO:0100030 subclass MONDO:0100033 metabolic epilepsy MONDO MONDO:0005027 subclass -MONDO:0100034 cerebral folate deficiency MONDO MONDO:0005528,MONDO:0015955,MONDO:0100033 subclass +MONDO:0100034 cerebral folate deficiency MONDO MONDO:0002320,MONDO:0005528,MONDO:0015955,MONDO:0100033 subclass MONDO:0100035 structural epilepsy MONDO MONDO:0005027 subclass MONDO:0100036 variable age onset epilepsy MONDO MONDO:0005027 subclass MONDO:0100036 variable age onset epilepsy http http://orcid.org/0000-0001-8486-0558 inexact diff --git a/src/ontology/void.ttl b/src/ontology/void.ttl index 6d217a84d4..b2c6af1961 100644 --- a/src/ontology/void.ttl +++ b/src/ontology/void.ttl @@ -37,6 +37,12 @@ a lib:Virtual ; owl:imports , , , , , , , , . + + a lib:Ontology ; + a lib:Virtual ; + owl:imports , , , , . + + a lib:Ontology ; a lib:Virtual ; diff --git a/src/patterns/Makefile b/src/patterns/Makefile index 2e6fd2c418..3844a5d144 100644 --- a/src/patterns/Makefile +++ b/src/patterns/Makefile @@ -5,17 +5,22 @@ SRCM := ../ontology/mondo-edit.obo #PATTERNS = hereditary acquired location_top location rare genetic dependence PATTERNS = \ autosomal_dominant autosomal_recessive x_linked y_linked \ +infantile congenital childhood adult\ chronic acute \ location location_top \ disease_by_dysfunctional_structure \ -basis_in_disruption_of_process \ +disease_series_by_gene \ +basis_in_disruption_of_process disrupts_process \ inborn_metabolic \ environmental_stimulus \ -allergy allergic_form_of_disease autoimmune_inflammation inflammatory_disease_by_site\ -infectious_disease_by_agent specific_infectious_disease_by_agent\ -rare genetic acquired rare_genetic congenital hereditary \ +autoimmune allergy allergic_form_of_disease autoimmune_inflammation inflammatory_disease_by_site \ +infectious_disease_by_agent specific_infectious_disease_by_agent postinfectious_disease \ +rare genetic acquired rare_genetic hereditary \ syndromic isolated \ -malignant benign cancer carcinoma carcinoma_in_situ sarcoma neoplasm neoplasm_by_origin \ +malignant benign \ +neoplasm neoplasm_by_origin \ +cancer carcinoma carcinoma_in_situ sarcoma \ +adenoma adenocarcinoma leiomyosarcoma lipoma lymphoma melanoma rhabdomyosarcoma small_cell_carcinoma squamous_cell_carcinoma \ neuroendocrine_neoplasm neuroendocrine_neoplasm_grade1 all: all_mondo_ld merged-ld.owl all_disease all_ordo all_ncit all_icd all_snomed @@ -97,3 +102,7 @@ syns.json: fooz: lsaz ddddd echo hi + +# first mkdir tmp +patternize: + pl2sparql -e -c conf/main_conf.pl -A ../ontology/void.ttl -i mondo_edit -i imports doall diff --git a/src/patterns/adenocarcinoma.yaml b/src/patterns/adenocarcinoma.yaml new file mode 100644 index 0000000000..c1f6162cfd --- /dev/null +++ b/src/patterns/adenocarcinoma.yaml @@ -0,0 +1,52 @@ +pattern_name: adenocarcinoma disease has location X +pattern_iri: http://purl.obolibrary.org/obo/mondo/adenocarcinoma_disease_has_location_X + +description: >- + This is auto-generated. Add your description here + + Examples: [adenocarcinoma of cervix uteri](http://purl.obolibrary.org/obo/MONDO_0016275), [pituitary adenocarcinoma (disease)](http://purl.obolibrary.org/obo/MONDO_0017582), [ureter adenocarcinoma](http://purl.obolibrary.org/obo/MONDO_0003216) (56 total) + +classes: + adenocarcinoma: "MONDO:0004970" + + +relations: + disease has location: "RO:0004026" + + +vars: + v0: "owl:Thing" + +name: + # Induced, frequency=0.5714285714285714, p=http://www.w3.org/2000/01/rdf-schema#label + text: "%s adenocarcinoma" + vars: + - v0 + +def: + # Induced, frequency=0.35714285714285715, p=http://purl.obolibrary.org/obo/IAO_0000115 + text: "A carcinoma that arises from glandular epithelial cells of the %s" + vars: + - v0 + +annotationProperties: + exact_synonym: "oio:hasExactSynonym" + related_synonym: "oio:hasRelatedSynonym" + +annotations: + - annotationProperty: exact_synonym + # Induced p=exact_synonym + text: "%s adenocarcinoma" + vars: + - v0 + - annotationProperty: related_synonym + # Induced p=related_synonym + text: adenocarcinoma of %s + vars: + - v0 + + +equivalentTo: + text: "'adenocarcinoma' and ('disease has location' some %s)" + vars: + - v0 diff --git a/src/patterns/adenoma.yaml b/src/patterns/adenoma.yaml new file mode 100644 index 0000000000..01e4011045 --- /dev/null +++ b/src/patterns/adenoma.yaml @@ -0,0 +1,52 @@ +pattern_name: adenoma disease has location X +pattern_iri: http://purl.obolibrary.org/obo/mondo/adenoma_disease_has_location_X + +description: >- + This is auto-generated. Add your description here + + Examples: [pituitary gland adenoma](http://purl.obolibrary.org/obo/MONDO_0006373), [breast adenoma](http://purl.obolibrary.org/obo/MONDO_0002058), [Bartholin gland adenoma](http://purl.obolibrary.org/obo/MONDO_0003419) (31 total) + +classes: + adenoma: "MONDO:0004972" + + +relations: + disease has location: "RO:0004026" + + +vars: + v0: "owl:Thing" + +name: + # Induced, frequency=0.6129032258064516, p=http://www.w3.org/2000/01/rdf-schema#label + text: "%s adenoma" + vars: + - v0 + +def: + # Induced, frequency=0.16129032258064516, p=http://purl.obolibrary.org/obo/IAO_0000115 + text: "A adenoma that involves the %s." + vars: + - v0 + +annotationProperties: + exact_synonym: "oio:hasExactSynonym" + related_synonym: "oio:hasRelatedSynonym" + +annotations: + - annotationProperty: exact_synonym + # Induced p=exact_synonym + text: "%s adenoma" + vars: + - v0 + - annotationProperty: related_synonym + # Induced p=related_synonym + text: adenoma of %s + vars: + - v0 + + +equivalentTo: + text: "'adenoma' and ('disease has location' some %s)" + vars: + - v0 diff --git a/src/patterns/autoimmune.yaml b/src/patterns/autoimmune.yaml new file mode 100644 index 0000000000..8abaa6b756 --- /dev/null +++ b/src/patterns/autoimmune.yaml @@ -0,0 +1,28 @@ +pattern_name: autoimmune + +classes: + disease: MONDO:0000001 + autoimmunity: HP:0002960 + +relations: + disease arises from feature: RO:0004022 + +vars: + disease: "'disease'" + +name: + text: "autoimmune %s" + vars: + - disease + +def: + text: "An autoimmune form of %s." + vars: + - disease + +equivalentTo: + text: "%s and 'disease arises from feature' some 'autoimmunity'" + vars: + - disease + + diff --git a/src/patterns/disease_series_by_gene.yaml b/src/patterns/disease_series_by_gene.yaml new file mode 100644 index 0000000000..7caf422762 --- /dev/null +++ b/src/patterns/disease_series_by_gene.yaml @@ -0,0 +1,42 @@ +pattern_name: disease_series_by_gene + +description: >- + Examples: Bardet-Biedl type N is defined by gene involved + +classes: + disease: MONDO:0000001 + gene: SO:0001217 + +relations: + disease has basis in dysfunction of: RO:0004020 + +vars: + disease: "'disease'" + gene: "'gene'" + +name: + text: "%s caused by mutation in %s" + vars: + - disease + - gene + +annotations: + - annotationProperty: oio:hasExactSynonym + text: "%s %s" + vars: + - gene + - disease + +def: + text: "Any %s in which the cause of the disease is a mutation in the %s gene." + vars: + - disease + - gene + +equivalentTo: + text: "%s and 'disease has basis in dysfunction of' some %s" + vars: + - disease + - gene + + diff --git a/src/patterns/disrupts_process.yaml b/src/patterns/disrupts_process.yaml new file mode 100644 index 0000000000..a8ccaffdbc --- /dev/null +++ b/src/patterns/disrupts_process.yaml @@ -0,0 +1,47 @@ +pattern_name: disease or disorder disease caused by disruption of X +pattern_iri: http://purl.obolibrary.org/obo/mondo/disease_or_disorder_disease_caused_by_disruption_of_X + +description: >- + This is auto-generated. Add your description here + + Examples: [type III hypersensitivity disease](http://purl.obolibrary.org/obo/MONDO_0007004), [type IV hypersensitivity disease](http://purl.obolibrary.org/obo/MONDO_0002459), [neural tube closure defect](http://purl.obolibrary.org/obo/MONDO_0017059) (55 total) + +classes: + disease or disorder: "MONDO:0000001" + + +relations: + disease caused by disruption of: "RO:0004021" + + +vars: + v0: "owl:Thing" + +name: + # Induced, frequency=0.38181818181818183, p=http://www.w3.org/2000/01/rdf-schema#label + text: "%s disease" + vars: + - v0 + +def: + # Induced, frequency=0.38181818181818183, p=http://purl.obolibrary.org/obo/IAO_0000115 + text: "A disease that has its basis in the disruption of %s." + vars: + - v0 + +annotationProperties: + exact_synonym: "oio:hasExactSynonym" + related_synonym: "oio:hasRelatedSynonym" + +annotations: + - annotationProperty: exact_synonym + # Induced p=exact_synonym + text: disorder of %s + vars: + - v0 + + +equivalentTo: + text: "'disease or disorder' and ('disease caused by disruption of' some %s)" + vars: + - v0 diff --git a/src/patterns/infantile.yaml b/src/patterns/infantile.yaml new file mode 100644 index 0000000000..8335f9f265 --- /dev/null +++ b/src/patterns/infantile.yaml @@ -0,0 +1,36 @@ +pattern_name: infantile + +classes: + infantile: HP:0003593 + +relations: + has modifier: RO:0002573 + +vars: + disease: "owl:Thing" + +name: + text: "infantile %s" + vars: + - disease + +annotations: + - annotationProperty: oio:hasExactSynonym + text: "infantile onset %s" + vars: + - disease + - annotationProperty: oio:hasExactSynonym + text: "%s of infancy" + vars: + - disease + +def: + text: "A %s that occurs between 28 days to one year of life.." + vars: + - disease + +equivalentTo: + text: "%s and 'has modifier' some 'infantile'" + vars: + - disease + diff --git a/src/patterns/leiomyosarcoma.yaml b/src/patterns/leiomyosarcoma.yaml new file mode 100644 index 0000000000..4cd6d23c4a --- /dev/null +++ b/src/patterns/leiomyosarcoma.yaml @@ -0,0 +1,47 @@ +pattern_name: leiomyosarcoma disease has location X +pattern_iri: http://purl.obolibrary.org/obo/mondo/leiomyosarcoma_disease_has_location_X + +description: >- + This is auto-generated. Add your description here + + Examples: [leiomyosarcoma of the cervix uteri](http://purl.obolibrary.org/obo/MONDO_0016283), [cutaneous leiomyosarcoma (disease)](http://purl.obolibrary.org/obo/MONDO_0003362), [breast leiomyosarcoma](http://purl.obolibrary.org/obo/MONDO_0003371) (29 total) + +classes: + leiomyosarcoma: "MONDO:0005058" + + +relations: + disease has location: "RO:0004026" + + +vars: + v0: "owl:Thing" + +name: + # Induced, frequency=0.7586206896551724, p=http://www.w3.org/2000/01/rdf-schema#label + text: "%s leiomyosarcoma" + vars: + - v0 + +def: + # Induced, frequency=0.7931034482758621, p=http://purl.obolibrary.org/obo/IAO_0000115 + text: "An aggressive malignant smooth muscle neoplasm, arising from the %s. It is characterized by a proliferation of neoplastic spindle cells." + vars: + - v0 + +annotationProperties: + exact_synonym: "oio:hasExactSynonym" + related_synonym: "oio:hasRelatedSynonym" + +annotations: + - annotationProperty: exact_synonym + # Induced p=exact_synonym + text: "%s leiomyosarcoma" + vars: + - v0 + + +equivalentTo: + text: "'leiomyosarcoma' and ('disease has location' some %s)" + vars: + - v0 diff --git a/src/patterns/lipoma.yaml b/src/patterns/lipoma.yaml new file mode 100644 index 0000000000..31f4d7e45c --- /dev/null +++ b/src/patterns/lipoma.yaml @@ -0,0 +1,47 @@ +pattern_name: lipoma disease has location X +pattern_iri: http://purl.obolibrary.org/obo/mondo/lipoma_disease_has_location_X + +description: >- + This is auto-generated. Add your description here + + Examples: [skin lipoma](http://purl.obolibrary.org/obo/MONDO_0000964), [colorectal lipoma](http://purl.obolibrary.org/obo/MONDO_0003885), [tendon sheath lipoma](http://purl.obolibrary.org/obo/MONDO_0004076) (28 total) + +classes: + lipoma: "MONDO:0005106" + + +relations: + disease has location: "RO:0004026" + + +vars: + v0: "owl:Thing" + +name: + # Induced, frequency=0.6071428571428571, p=http://www.w3.org/2000/01/rdf-schema#label + text: "%s lipoma" + vars: + - v0 + +def: + # Induced, frequency=0.14285714285714285, p=http://purl.obolibrary.org/obo/IAO_0000115 + text: "A benign adipose tissue neoplasm of the %s." + vars: + - v0 + +annotationProperties: + exact_synonym: "oio:hasExactSynonym" + related_synonym: "oio:hasRelatedSynonym" + +annotations: + - annotationProperty: exact_synonym + # Induced p=exact_synonym + text: "%s lipoma" + vars: + - v0 + + +equivalentTo: + text: "'lipoma' and ('disease has location' some %s)" + vars: + - v0 diff --git a/src/patterns/lymphoma.yaml b/src/patterns/lymphoma.yaml new file mode 100644 index 0000000000..5b94dc8c2a --- /dev/null +++ b/src/patterns/lymphoma.yaml @@ -0,0 +1,47 @@ +pattern_name: lymphoma disease has location X +pattern_iri: http://purl.obolibrary.org/obo/mondo/lymphoma_disease_has_location_X + +description: >- + This is auto-generated. Add your description here + + Examples: [marginal zone lymphoma](http://purl.obolibrary.org/obo/MONDO_0017604), [ureteral lymphoma](http://purl.obolibrary.org/obo/MONDO_0001977), [colorectal lymphoma](http://purl.obolibrary.org/obo/MONDO_0024656) (37 total) + +classes: + lymphoma: "MONDO:0005062" + + +relations: + disease has location: "RO:0004026" + + +vars: + v0: "owl:Thing" + +name: + # Induced, frequency=0.7027027027027027, p=http://www.w3.org/2000/01/rdf-schema#label + text: "%s lymphoma" + vars: + - v0 + +def: + # Induced, frequency=0.13513513513513514, p=http://purl.obolibrary.org/obo/IAO_0000115 + text: "A lymphoma that involves the %s." + vars: + - v0 + +annotationProperties: + exact_synonym: "oio:hasExactSynonym" + related_synonym: "oio:hasRelatedSynonym" + +annotations: + - annotationProperty: exact_synonym + # Induced p=exact_synonym + text: "%s lymphoma" + vars: + - v0 + + +equivalentTo: + text: "'lymphoma' and ('disease has location' some %s)" + vars: + - v0 diff --git a/src/patterns/melanoma.yaml b/src/patterns/melanoma.yaml new file mode 100644 index 0000000000..3ff96595ac --- /dev/null +++ b/src/patterns/melanoma.yaml @@ -0,0 +1,47 @@ +pattern_name: melanoma (disease) disease has location X +pattern_iri: http://purl.obolibrary.org/obo/mondo/melanoma_(disease)_disease_has_location_X + +description: >- + This is auto-generated. Add your description here + + Examples: [cutaneous melanoma (disease)](http://purl.obolibrary.org/obo/MONDO_0005012), [malignant breast melanoma](http://purl.obolibrary.org/obo/MONDO_0002975), [malignant melanoma of the mucosa](http://purl.obolibrary.org/obo/MONDO_0015694) (22 total) + +classes: + melanoma (disease): "MONDO:0005105" + + +relations: + disease has location: "RO:0004026" + + +vars: + v0: "owl:Thing" + +name: + # Induced, frequency=0.22727272727272727, p=http://www.w3.org/2000/01/rdf-schema#label + text: "%s melanoma" + vars: + - v0 + +def: + # Induced, frequency=0.18181818181818182, p=http://purl.obolibrary.org/obo/IAO_0000115 + text: "A melanoma (disease) that involves the %s." + vars: + - v0 + +annotationProperties: + exact_synonym: "oio:hasExactSynonym" + related_synonym: "oio:hasRelatedSynonym" + +annotations: + - annotationProperty: exact_synonym + # Induced p=exact_synonym + text: "%s melanoma (disease)" + vars: + - v0 + + +equivalentTo: + text: "'melanoma (disease)' and ('disease has location' some %s)" + vars: + - v0 diff --git a/src/patterns/rhabdomyosarcoma.yaml b/src/patterns/rhabdomyosarcoma.yaml new file mode 100644 index 0000000000..edd426d3d1 --- /dev/null +++ b/src/patterns/rhabdomyosarcoma.yaml @@ -0,0 +1,52 @@ +pattern_name: rhabdomyosarcoma (disease) disease has location X +pattern_iri: http://purl.obolibrary.org/obo/mondo/rhabdomyosarcoma_(disease)_disease_has_location_X + +description: >- + This is auto-generated. Add your description here + + Examples: [rhabdomyosarcoma of the cervix uteri](http://purl.obolibrary.org/obo/MONDO_0016282), [breast rhabdomyosarcoma](http://purl.obolibrary.org/obo/MONDO_0002859), [testis rhabdomyosarcoma](http://purl.obolibrary.org/obo/MONDO_0002860) (15 total) + +classes: + rhabdomyosarcoma (disease): "MONDO:0005212" + + +relations: + disease has location: "RO:0004026" + + +vars: + v0: "owl:Thing" + +name: + # Induced, frequency=0.8, p=http://www.w3.org/2000/01/rdf-schema#label + text: "%s rhabdomyosarcoma" + vars: + - v0 + +def: + # Induced, frequency=0.4666666666666667, p=http://purl.obolibrary.org/obo/IAO_0000115 + text: "A malignant mesenchymal tumor with skeletal muscle differentiation affecting the %s." + vars: + - v0 + +annotationProperties: + exact_synonym: "oio:hasExactSynonym" + related_synonym: "oio:hasRelatedSynonym" + +annotations: + - annotationProperty: exact_synonym + # Induced p=exact_synonym + text: "%s rhabdomyosarcoma (disease)" + vars: + - v0 + - annotationProperty: related_synonym + # Induced p=related_synonym + text: rhabdomyosarcoma of the %s + vars: + - v0 + + +equivalentTo: + text: "'rhabdomyosarcoma (disease)' and ('disease has location' some %s)" + vars: + - v0 diff --git a/src/patterns/small_cell_carcinoma.yaml b/src/patterns/small_cell_carcinoma.yaml new file mode 100644 index 0000000000..ab2f06fdb7 --- /dev/null +++ b/src/patterns/small_cell_carcinoma.yaml @@ -0,0 +1,52 @@ +pattern_name: small cell carcinoma disease has location X +pattern_iri: http://purl.obolibrary.org/obo/mondo/small_cell_carcinoma_disease_has_location_X + +description: >- + This is auto-generated. Add your description here + + Examples: [cervical small cell carcinoma](http://purl.obolibrary.org/obo/MONDO_0006142), [pancreatic small cell neuroendocrine carcinoma](http://purl.obolibrary.org/obo/MONDO_0006348), [ureter small cell carcinoma](http://purl.obolibrary.org/obo/MONDO_0006482) (16 total) + +classes: + small cell carcinoma: "MONDO:0000402" + + +relations: + disease has location: "RO:0004026" + + +vars: + v0: "owl:Thing" + +name: + # Induced, frequency=0.3125, p=http://www.w3.org/2000/01/rdf-schema#label + text: "%s small cell carcinoma" + vars: + - v0 + +def: + # Induced, frequency=0.1875, p=http://purl.obolibrary.org/obo/IAO_0000115 + text: "An aggressive, high-grade and poorly differentiated carcinoma with neuroendocrine differentiation that arises from the %s. It is characterized by the presence of malignant small cells." + vars: + - v0 + +annotationProperties: + exact_synonym: "oio:hasExactSynonym" + related_synonym: "oio:hasRelatedSynonym" + +annotations: + - annotationProperty: exact_synonym + # Induced p=exact_synonym + text: "%s small cell carcinoma" + vars: + - v0 + - annotationProperty: related_synonym + # Induced p=related_synonym + text: small cell cancer of the %s + vars: + - v0 + + +equivalentTo: + text: "'small cell carcinoma' and ('disease has location' some %s)" + vars: + - v0 diff --git a/src/patterns/squamous_cell_carcinoma.yaml b/src/patterns/squamous_cell_carcinoma.yaml new file mode 100644 index 0000000000..761ebe6641 --- /dev/null +++ b/src/patterns/squamous_cell_carcinoma.yaml @@ -0,0 +1,47 @@ +pattern_name: squamous cell carcinoma disease has location X +pattern_iri: http://purl.obolibrary.org/obo/mondo/squamous_cell_carcinoma_disease_has_location_X + +description: >- + This is auto-generated. Add your description here + + Examples: [cervical squamous cell carcinoma](http://purl.obolibrary.org/obo/MONDO_0006143), [skin squamous cell carcinoma](http://purl.obolibrary.org/obo/MONDO_0002529), [ureter squamous cell carcinoma](http://purl.obolibrary.org/obo/MONDO_0003502) (63 total) + +classes: + squamous cell carcinoma: "MONDO:0005096" + + +relations: + disease has location: "RO:0004026" + + +vars: + v0: "owl:Thing" + +name: + # Induced, frequency=0.5714285714285714, p=http://www.w3.org/2000/01/rdf-schema#label + text: "%s squamous cell carcinoma" + vars: + - v0 + +def: + # Induced, frequency=0.19047619047619047, p=http://purl.obolibrary.org/obo/IAO_0000115 + text: "A squamous cell carcinoma that involves the %s." + vars: + - v0 + +annotationProperties: + exact_synonym: "oio:hasExactSynonym" + related_synonym: "oio:hasRelatedSynonym" + +annotations: + - annotationProperty: exact_synonym + # Induced p=exact_synonym + text: "%s squamous cell carcinoma" + vars: + - v0 + + +equivalentTo: + text: "'squamous cell carcinoma' and ('disease has location' some %s)" + vars: + - v0